#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
KCNH4	23415	broad.mit.edu	37	17	40327728	40327728	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr17:40327728A>G	ENST00000264661.3	-	6	1188	c.856T>C	c.(856-858)Tat>Cat	p.Y286H	KCNH4_ENST00000607371.1_Missense_Mutation_p.Y286H	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	286					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGGGACACATAGGTGGTGCGG	0.552																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(856-858)Tat>Cat		potassium voltage-gated channel, subfamily H (eag-related), member 4							184.0	157.0	166.0					17																	40327728		2203	4300	6503	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40327728A>G	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.856T>C	17.37:g.40327728A>G	ENSP00000264661:p.Tyr286His					KCNH4_ENST00000607371.1_Missense_Mutation_p.Y286H	p.Y286H	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	6	1188	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	286						Missense_Mutation	SNP	ENST00000264661.3	37	c.856T>C	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.800080	0.90538	.	.	ENSG00000089558	ENST00000264661	D	0.95069	-3.6	5.4	5.4	0.78164	Ion transport (1);	0.000000	0.37053	N	0.002279	D	0.97564	0.9202	M	0.88310	2.945	0.58432	D	0.999996	D	0.89917	1.0	D	0.85130	0.997	D	0.98435	1.0584	10	0.87932	D	0	.	15.5933	0.76558	1.0:0.0:0.0:0.0	.	286	Q9UQ05	KCNH4_HUMAN	H	286	ENSP00000264661:Y286H	ENSP00000264661:Y286H	Y	-	1	0	KCNH4	37581254	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.139000	0.94554	2.270000	0.75569	0.460000	0.39030	TAT		0.552	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		3	139	0	0	0	0.004672	0	3	139				
MAP4K3	8491	broad.mit.edu	37	2	39485697	39485697	+	Silent	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:39485697G>A	ENST00000263881.3	-	30	2664	c.2340C>T	c.(2338-2340)acC>acT	p.T780T	MAP4K3_ENST00000341681.5_Silent_p.T759T|MAP4K3_ENST00000437545.1_Silent_p.T696T|MAP4K3_ENST00000536018.1_Silent_p.T333T	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	780	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)				TCTCCAGTTGGGTTACATGAG	0.328																																						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.(2338-2340)acC>acT		mitogen-activated protein kinase kinase kinase kinase 3							111.0	109.0	110.0					2																	39485697		2203	4300	6503	SO:0001819	synonymous_variant	8491				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:39485697G>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.2340C>T	2.37:g.39485697G>A						MAP4K3_ENST00000536018.1_Silent_p.T333T|MAP4K3_ENST00000341681.5_Silent_p.T759T|MAP4K3_ENST00000437545.1_Silent_p.T696T	p.T780T	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN			30	2664	-		all_hematologic(82;0.211)	780			CNH.		Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Silent	SNP	ENST00000263881.3	37	c.2340C>T	CCDS1803.1																																																																																				0.328	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618		7	40	0	0	0	0.003080	0	7	40				
STAB2	55576	broad.mit.edu	37	12	104067821	104067821	+	Silent	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr12:104067821C>T	ENST00000388887.2	+	23	2712	c.2508C>T	c.(2506-2508)ttC>ttT	p.F836F		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ACGTGCAGTTCTGTCACATCC	0.562																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(2506-2508)ttC>ttT		stabilin 2							133.0	105.0	114.0					12																	104067821		2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104067821C>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.2508C>T	12.37:g.104067821C>T							p.F836F	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			23	2712	+			836			EGF-like 7.			Silent	SNP	ENST00000388887.2	37	c.2508C>T	CCDS31888.1																																																																																				0.562	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			23	53	0	0	0	0.024334	0	23	53				
TFDP2	7029	broad.mit.edu	37	3	141692899	141692899	+	Silent	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr3:141692899C>T	ENST00000489671.1	-	8	1084	c.654G>A	c.(652-654)caG>caA	p.Q218Q	TFDP2_ENST00000310282.6_Silent_p.Q158Q|TFDP2_ENST00000479040.1_Silent_p.Q157Q|TFDP2_ENST00000397991.4_Silent_p.Q190Q|TFDP2_ENST00000495310.1_Silent_p.Q121Q|TFDP2_ENST00000477292.1_Silent_p.Q82Q|TFDP2_ENST00000499676.2_Silent_p.Q158Q|TFDP2_ENST00000486111.1_Silent_p.Q158Q|TFDP2_ENST00000467072.1_Silent_p.Q158Q|TFDP2_ENST00000317104.7_Silent_p.Q142Q			Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	218					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						CCTCCAGATTCTGACATTCCT	0.303																																						ENST00000499676.2																			0				kidney(1)|upper_aerodigestive_tract(2)	3						c.(472-474)caG>caA		transcription factor Dp-2 (E2F dimerization partner 2)							90.0	83.0	85.0					3																	141692899		1847	4122	5969	SO:0001819	synonymous_variant	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.chr3:141692899C>T	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.654G>A	3.37:g.141692899C>T						TFDP2_ENST00000495310.1_Silent_p.Q121Q|TFDP2_ENST00000489671.1_Silent_p.Q218Q|TFDP2_ENST00000486111.1_Silent_p.Q158Q|TFDP2_ENST00000397991.4_Silent_p.Q190Q|TFDP2_ENST00000479040.1_Silent_p.Q157Q|TFDP2_ENST00000477292.1_Silent_p.Q82Q|TFDP2_ENST00000310282.6_Silent_p.Q158Q|TFDP2_ENST00000317104.7_Silent_p.Q142Q|TFDP2_ENST00000467072.1_Silent_p.Q158Q	p.Q158Q	NM_001178139.1	NP_001171610.1	Q14188	TFDP2_HUMAN			8	1145	-			218					B7Z8C8|B7Z8L5|D3DNG1|E9PFC3|F8WAI2|Q13331|Q14187|Q6R754|Q8WU88|Q9UG28	Silent	SNP	ENST00000489671.1	37	c.474G>A	CCDS54650.1																																																																																				0.303	TFDP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353294.4	NM_006286		31	82	0	0	0	0.019004	0	31	82				
AOX1	316	broad.mit.edu	37	2	201507512	201507512	+	Silent	SNP	A	A	G			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:201507512A>G	ENST00000374700.2	+	25	3076	c.2835A>G	c.(2833-2835)ctA>ctG	p.L945L	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	945					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)	AATGTGGACTATCCCCTGAGA	0.488																																						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.(2833-2835)ctA>ctG		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)						74.0	70.0	71.0					2																	201507512		2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:201507512A>G	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.2835A>G	2.37:g.201507512A>G						AOX1_ENST00000485106.1_3'UTR	p.L945L	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN			25	3076	+			945					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Silent	SNP	ENST00000374700.2	37	c.2835A>G	CCDS33360.1																																																																																				0.488	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		9	59	0	0	0	0.008291	0	9	59				
ECE1	1889	broad.mit.edu	37	1	21599368	21599368	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:21599368G>A	ENST00000374893.6	-	4	391	c.317C>T	c.(316-318)tCa>tTa	p.S106L	ECE1_ENST00000264205.6_Missense_Mutation_p.S103L|ECE1_ENST00000357071.4_Missense_Mutation_p.S94L|ECE1_ENST00000415912.2_Missense_Mutation_p.S90L|ECE1_ENST00000436918.2_Missense_Mutation_p.S106L	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	106					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)		GCTGGTCACTGAGACACAAGC	0.597																																						ENST00000415912.2																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25						c.(268-270)tCa>tTa		endothelin converting enzyme 1							81.0	77.0	79.0					1																	21599368		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.chr1:21599368G>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.317C>T	1.37:g.21599368G>A	ENSP00000364028:p.Ser106Leu					ECE1_ENST00000436918.2_Missense_Mutation_p.S106L|ECE1_ENST00000374893.6_Missense_Mutation_p.S106L|ECE1_ENST00000357071.4_Missense_Mutation_p.S94L|ECE1_ENST00000264205.6_Missense_Mutation_p.S103L	p.S90L	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)	4	394	-		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)	106					A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	ENST00000374893.6	37	c.269C>T	CCDS215.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.908474	0.33721	.	.	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205;ENST00000481130;ENST00000527991	D;D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55;-1.55	5.75	5.75	0.90469	.	0.356015	0.28327	N	0.015749	T	0.78805	0.4341	L	0.55834	1.745	0.44635	D	0.997615	B;B;B;P;B	0.38677	0.022;0.266;0.019;0.642;0.385	B;B;B;B;B	0.28305	0.008;0.023;0.006;0.088;0.052	T	0.79952	-0.1586	10	0.48119	T	0.1	-8.4323	18.5282	0.90981	0.0:0.0:1.0:0.0	.	106;90;106;94;103	B4DKB2;Q2Z2K8;P42892;P42892-2;P42892-4	.;.;ECE1_HUMAN;.;.	L	90;94;106;106;103;92;89	ENSP00000405088:S90L;ENSP00000349581:S94L;ENSP00000364028:S106L;ENSP00000388439:S106L;ENSP00000264205:S103L;ENSP00000436633:S92L	ENSP00000264205:S103L	S	-	2	0	ECE1	21471955	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	3.607000	0.54102	2.732000	0.93576	0.655000	0.94253	TCA		0.597	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2	NM_001397		10	80	0	0	0	0.008291	0	10	80				
STKLD1	169436	broad.mit.edu	37	9	136260872	136260872	+	Missense_Mutation	SNP	C	C	T	rs372995558		TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr9:136260872C>T	ENST00000371957.3	+	9	955	c.848C>T	c.(847-849)tCg>tTg	p.S283L	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		283	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		ATCGACCCCTCGGATCGAATA	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		18527	0.001		0.0	False		,,,				2504	0.0					ENST00000371957.3																			0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25						c.(847-849)tCg>tTg		chromosome 9 open reading frame 96							72.0	78.0	76.0					9																	136260872		2203	4300	6503	SO:0001583	missense	169436						ATP binding|protein kinase activity	g.chr9:136260872C>T																												ENST00000371957.3:c.848C>T	9.37:g.136260872C>T	ENSP00000361025:p.Ser283Leu					C9orf96_ENST00000371955.1_5'UTR	p.S283L	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	9	955	+			283			Protein kinase.		Q5T8U8|Q6ZMP6|Q6ZMQ5	Missense_Mutation	SNP	ENST00000371957.3	37	c.848C>T	CCDS35169.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.863096	0.51482	.	.	ENSG00000198870	ENST00000371957	T	0.66638	-0.22	4.86	1.51	0.23008	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.874470	0.02555	N	0.096135	T	0.66005	0.2746	M	0.62088	1.915	0.09310	N	0.999998	D	0.60575	0.988	P	0.45167	0.472	T	0.49163	-0.8968	10	0.34782	T	0.22	-2.5894	5.5229	0.16943	0.5651:0.3265:0.0:0.1085	.	283	Q8NE28	SGK71_HUMAN	L	283	ENSP00000361025:S283L	ENSP00000361025:S283L	S	+	2	0	C9orf96	135250693	0.000000	0.05858	0.001000	0.08648	0.069000	0.16628	-0.240000	0.08952	0.132000	0.18615	0.462000	0.41574	TCG		0.493	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1			12	87	0	0	0	0.020292	0	12	87				
MPP2	4355	broad.mit.edu	37	17	41956730	41956730	+	Silent	SNP	C	C	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr17:41956730C>A	ENST00000461854.1	-	13	1552	c.1467G>T	c.(1465-1467)gtG>gtT	p.V489V	MPP2_ENST00000520305.1_Silent_p.V326V|MPP2_ENST00000377184.3_Silent_p.V482V|MPP2_ENST00000536246.1_Silent_p.V454V|MPP2_ENST00000523501.1_Silent_p.V454V|MPP2_ENST00000518766.1_Silent_p.V510V|MPP2_ENST00000269095.4_Silent_p.V465V			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	489	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)		CGATGAACACCACGTAAGGGA	0.582																																						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.(1393-1395)gtG>gtT		membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)							111.0	99.0	103.0					17																	41956730		2203	4300	6503	SO:0001819	synonymous_variant	4355				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity	g.chr17:41956730C>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.1467G>T	17.37:g.41956730C>A						MPP2_ENST00000461854.1_Silent_p.V489V|MPP2_ENST00000518766.1_Silent_p.V510V|MPP2_ENST00000523501.1_Silent_p.V454V|MPP2_ENST00000377184.3_Silent_p.V482V|MPP2_ENST00000520305.1_Silent_p.V326V|MPP2_ENST00000536246.1_Silent_p.V454V	p.V465V	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)	12	1699	-		Breast(137;0.00314)	489			Guanylate kinase-like.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Silent	SNP	ENST00000461854.1	37	c.1395G>T																																																																																					0.582	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2	NM_005374		18	78	1	0	5.3912e-06	0.006122	5.71885e-06	18	78				
ATG4D	84971	broad.mit.edu	37	19	10663623	10663623	+	Silent	SNP	T	T	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr19:10663623T>A	ENST00000309469.4	+	10	1478	c.1305T>A	c.(1303-1305)gcT>gcA	p.A435A	RNU7-140P_ENST00000459546.1_RNA|ATG4D_ENST00000540862.1_Silent_p.A102A|MIR1238_ENST00000408483.1_RNA	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	435					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)			AGGGCCATGCTCAGGACCACA	0.672																																						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.(1303-1305)gcT>gcA		autophagy related 4D, cysteine peptidase							85.0	75.0	78.0					19																	10663623		2203	4300	6503	SO:0001819	synonymous_variant	84971				autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity	g.chr19:10663623T>A	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.1305T>A	19.37:g.10663623T>A						ATG4D_ENST00000540862.1_Silent_p.A102A	p.A435A	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		10	1478	+			435					Q969K0	Silent	SNP	ENST00000309469.4	37	c.1305T>A	CCDS12241.1																																																																																				0.672	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885		13	61	0	0	0	0.016723	0	13	61				
TP53I13	90313	broad.mit.edu	37	17	27896356	27896356	+	Silent	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr17:27896356C>T	ENST00000301057.7	+	3	277	c.162C>T	c.(160-162)taC>taT	p.Y54Y	RP11-68I3.4_ENST00000579050.1_RNA|ABHD15_ENST00000307201.4_5'Flank|RP11-68I3.2_ENST00000581474.1_RNA	NM_138349.2	NP_612358.3	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	54						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		GAGTGACCTACACACGAGTGA	0.622																																						ENST00000301057.7																			0				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4						c.(160-162)taC>taT		tumor protein p53 inducible protein 13							69.0	82.0	78.0					17																	27896356		2056	4192	6248	SO:0001819	synonymous_variant	90313					cytoplasm|integral to membrane|plasma membrane		g.chr17:27896356C>T	AK075341	CCDS42289.1	17q11.2	2006-01-16				ENSG00000167543			25102	protein-coding gene	gene with protein product						14767535	Standard	NM_138349		Approved	DSCP1	uc002hee.3	Q8NBR0		ENST00000301057.7:c.162C>T	17.37:g.27896356C>T						RP11-68I3.2_ENST00000581474.1_RNA	p.Y54Y	NM_138349.2	NP_612358.3	Q8NBR0	P5I13_HUMAN		READ - Rectum adenocarcinoma(3;0.236)	3	277	+			54					Q7L5U3	Silent	SNP	ENST00000301057.7	37	c.162C>T	CCDS42289.1																																																																																				0.622	TP53I13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447804.2	NM_138349		5	29	0	0	0	0.021553	0	5	29				
KLHL32	114792	broad.mit.edu	37	6	97414959	97414959	+	Splice_Site	SNP	G	G	C			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr6:97414959G>C	ENST00000369261.4	+	2	386	c.23G>C	c.(22-24)aGt>aCt	p.S8T	KLHL32_ENST00000539200.1_Splice_Site_p.S8T|KLHL32_ENST00000544166.1_5'UTR|KLHL32_ENST00000536676.1_Splice_Site_p.S8T	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	8										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		CGCTGCCTCAGGTATGCCCTG	0.483																																						ENST00000369261.4																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38						c.e2+1		kelch-like family member 32							105.0	75.0	85.0					6																	97414959		2203	4300	6503	SO:0001630	splice_region_variant	114792							g.chr6:97414959G>C	AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"""Kelch-like"", ""BTB/POZ domain containing"""	21221	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 5"", ""KIAA1900"", ""kelch-like 32 (Drosophila)"""	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.23+1G>C	6.37:g.97414959G>C						KLHL32_ENST00000539200.1_Splice_Site_p.S8_splice|KLHL32_ENST00000536676.1_Splice_Site_p.S8_splice|KLHL32_ENST00000544166.1_5'UTR	p.S8_splice	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0558)	2	386	+		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)	8					B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Splice_Site	SNP	ENST00000369261.4	37	c.23_splice	CCDS5038.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.824219	0.50739	.	.	ENSG00000186231	ENST00000369261;ENST00000536676;ENST00000539200;ENST00000369254	T;T;T;T	0.74632	-0.67;-0.69;-0.7;-0.86	4.84	4.84	0.62591	.	0.300120	0.39544	N	0.001337	T	0.49592	0.1566	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.29037	0.005;0.231;0.231;0.231	B;B;B;B	0.29785	0.005;0.074;0.107;0.107	T	0.55082	-0.8196	10	0.44086	T	0.13	.	18.1193	0.89566	0.0:0.0:1.0:0.0	.	8;8;8;8	B7Z4E2;B7Z346;Q96NJ5;Q6IQ08	.;.;KLH32_HUMAN;.	T	8	ENSP00000358265:S8T;ENSP00000440382:S8T;ENSP00000441527:S8T;ENSP00000358258:S8T	ENSP00000358258:S8T	S	+	2	0	KLHL32	97521680	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	5.766000	0.68843	2.521000	0.84997	0.655000	0.94253	AGT		0.483	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904	Missense_Mutation	5	12	0	0	0	0.001984	0	5	12				
SLC35F4	341880	broad.mit.edu	37	14	58056063	58056063	+	Missense_Mutation	SNP	T	T	C	rs374745886		TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr14:58056063T>C	ENST00000339762.6	-	3	565	c.566A>G	c.(565-567)tAt>tGt	p.Y189C	SLC35F4_ENST00000556826.1_Missense_Mutation_p.Y153C|SLC35F4_ENST00000554729.1_Missense_Mutation_p.Y30C			A4IF30	S35F4_HUMAN	solute carrier family 35, member F4	189					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						GAAGTTCTTATAAGTAATTTT	0.393																																						ENST00000556826.1																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(457-459)tAt>tGt		solute carrier family 35, member F4							81.0	84.0	83.0					14																	58056063		1879	4104	5983	SO:0001583	missense	341880							g.chr14:58056063T>C			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.566A>G	14.37:g.58056063T>C	ENSP00000342518:p.Tyr189Cys					SLC35F4_ENST00000339762.6_Missense_Mutation_p.Y189C|SLC35F4_ENST00000554729.1_Missense_Mutation_p.Y30C	p.Y153C	NM_001206920.1	NP_001193849.1					3	694	-								A6NDQ3	Missense_Mutation	SNP	ENST00000339762.6	37	c.458A>G		.	.	.	.	.	.	.	.	.	.	T	17.35	3.367551	0.61513	.	.	ENSG00000151812	ENST00000556826;ENST00000339762;ENST00000554729	T;T;T	0.51325	0.75;0.71;0.88	5.92	4.78	0.61160	.	0.100669	0.64402	N	0.000001	T	0.54078	0.1836	L	0.42245	1.32	0.47737	D	0.999509	D	0.64830	0.994	P	0.61800	0.894	T	0.55661	-0.8106	10	0.72032	D	0.01	-14.9871	8.0843	0.30762	0.1209:0.0663:0.0:0.8128	.	189	A4IF30	S35F4_HUMAN	C	153;189;30	ENSP00000452086:Y153C;ENSP00000342518:Y189C;ENSP00000451990:Y30C	ENSP00000342518:Y189C	Y	-	2	0	SLC35F4	57125816	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.960000	0.63673	1.076000	0.40961	0.455000	0.32223	TAT		0.393	SLC35F4-201	KNOWN	basic	protein_coding	protein_coding		XM_292260		18	32	0	0	0	0.006122	0	18	32				
HSD17B4	3295	broad.mit.edu	37	5	118865640	118865640	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr5:118865640C>T	ENST00000256216.6	+	21	1952	c.1819C>T	c.(1819-1821)Cca>Tca	p.P607S	HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000504811.1_Missense_Mutation_p.P632S|HSD17B4_ENST00000515320.1_Missense_Mutation_p.P589S|HSD17B4_ENST00000510025.1_Missense_Mutation_p.P583S|HSD17B4_ENST00000513628.1_Missense_Mutation_p.P470S|HSD17B4_ENST00000509514.1_Missense_Mutation_p.P345S|HSD17B4_ENST00000414835.2_Missense_Mutation_p.P467S	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	607	Enoyl-CoA hydratase 2.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		GGATCTTGCACCAACATCTGG	0.363																																					Colon(35;490 801 34689 41394 43344)	ENST00000504811.1																			0				breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25						c.(1894-1896)Cca>Tca		hydroxysteroid (17-beta) dehydrogenase 4	NADH(DB00157)						105.0	99.0	101.0					5																	118865640		2202	4300	6502	SO:0001583	missense	3295				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity	g.chr5:118865640C>T		CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5213	protein-coding gene	gene with protein product	"""17beta-estradiol dehydrogenase type IV"", ""peroxisomal multifunctional protein 2"", ""17-beta-HSD IV"", ""17-beta-hydroxysteroid dehydrogenase 4"", ""D-bifunctional protein, peroxisomal"", ""D-3-hydroxyacyl-CoA dehydratase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase"", ""beta-keto-reductase"", ""beta-hydroxyacyl dehydrogenase"", ""short chain dehydrogenase/reductase family 8C, member 1"""	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.1819C>T	5.37:g.118865640C>T	ENSP00000256216:p.Pro607Ser					HSD17B4_ENST00000414835.2_Missense_Mutation_p.P467S|HSD17B4_ENST00000510025.1_Missense_Mutation_p.P583S|HSD17B4_ENST00000509514.1_Missense_Mutation_p.P345S|HSD17B4_ENST00000513628.1_Missense_Mutation_p.P470S|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000515320.1_Missense_Mutation_p.P589S|HSD17B4_ENST00000256216.6_Missense_Mutation_p.P607S	p.P632S	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	22	2078	+		all_cancers(142;0.0206)|Prostate(80;0.0322)	607			SCP2.		B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	ENST00000256216.6	37	c.1894C>T	CCDS4126.1	.	.	.	.	.	.	.	.	.	.	C	5.143	0.211955	0.09757	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	D;T;T;T;T;T;T	0.81499	-1.5;-1.18;-1.14;-1.16;-1.46;-1.34;-0.82	5.82	4.02	0.46733	.	0.390236	0.29080	N	0.013205	T	0.60025	0.2237	N	0.21282	0.65	0.43014	D	0.994556	B;B;B;B;B	0.21753	0.06;0.006;0.001;0.002;0.001	B;B;B;B;B	0.18561	0.022;0.007;0.002;0.008;0.002	T	0.51220	-0.8733	10	0.02654	T	1	-3.8593	5.1655	0.15082	0.0:0.6143:0.1554:0.2303	.	632;589;583;345;607	F5HE57;E9PB82;E7EWE5;E7EPL9;P51659	.;.;.;.;DHB4_HUMAN	S	607;589;583;632;467;470;345	ENSP00000256216:P607S;ENSP00000424613:P589S;ENSP00000424940:P583S;ENSP00000420914:P632S;ENSP00000411960:P467S;ENSP00000425993:P470S;ENSP00000426272:P345S	ENSP00000256216:P607S	P	+	1	0	HSD17B4	118893539	0.002000	0.14202	0.222000	0.23844	0.067000	0.16453	0.107000	0.15375	0.791000	0.33826	-0.274000	0.10170	CCA		0.363	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3	NM_000414		7	70	0	0	0	0.004482	0	7	70				
HIST1H2AG	8969	broad.mit.edu	37	6	27101060	27101060	+	Silent	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr6:27101060G>A	ENST00000359193.2	+	1	229	c.210G>A	c.(208-210)gcG>gcA	p.A70A	HIST1H2BJ_ENST00000607124.1_5'Flank|HIST1H2BJ_ENST00000339812.2_5'Flank|HIST1H2BJ_ENST00000541790.1_5'Flank	NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	70						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						CGGGCAACGCGGCCCGCGACA	0.647																																						ENST00000359193.2																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						c.(208-210)gcG>gcA		histone cluster 1, H2ag							72.0	72.0	72.0					6																	27101060		2203	4300	6503	SO:0001819	synonymous_variant	8969				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27101060G>A	L19778	CCDS4619.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196787	ENSG00000196787		"""Histones / Replication-dependent"""	4737	protein-coding gene	gene with protein product		615012	"""H2A histone family, member P"", ""histone 1, H2ag"""	H2AFP		8179821, 12408966	Standard	NM_021064		Approved	pH2A/f, H2A/p, H2A.1b	uc003niw.3	P0C0S8	OTTHUMG00000014469	ENST00000359193.2:c.210G>A	6.37:g.27101060G>A							p.A70A	NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN			1	229	+			70					P02261|Q2M1R2|Q76PA6	Silent	SNP	ENST00000359193.2	37	c.210G>A	CCDS4619.1																																																																																				0.647	HIST1H2AG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040137.1	NM_021064		28	52	0	0	0	0.008361	0	28	52				
KIAA1683	80726	broad.mit.edu	37	19	18376204	18376204	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr19:18376204T>A	ENST00000600328.3	-	3	2339	c.2146A>T	c.(2146-2148)Atg>Ttg	p.M716L	KIAA1683_ENST00000392413.4_Missense_Mutation_p.M716L|KIAA1683_ENST00000600359.3_Missense_Mutation_p.M670L			Q9H0B3	K1683_HUMAN	KIAA1683	716						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						TGGGAATGCATCTTGCTCAGA	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.(2146-2148)Atg>Ttg		KIAA1683							69.0	68.0	68.0					19																	18376204		2203	4300	6503	SO:0001583	missense	80726					mitochondrion		g.chr19:18376204T>A	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.2146A>T	19.37:g.18376204T>A	ENSP00000470780:p.Met716Leu					KIAA1683_ENST00000600328.2_Missense_Mutation_p.M716L|KIAA1683_ENST00000600359.2_Missense_Mutation_p.M670L	p.M716L	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN			3	2361	-			716					B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	ENST00000600328.3	37	c.2146A>T	CCDS32958.1	.	.	.	.	.	.	.	.	.	.	T	8.577	0.881409	0.17467	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634;ENST00000411671	T;T;T	0.03242	4.08;4.09;4.0	4.63	-6.38	0.01957	.	1.213090	0.06264	N	0.694491	T	0.02304	0.0071	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	0.48833	-0.9000	10	0.28530	T	0.3	-1.2227	4.9934	0.14226	0.2059:0.289:0.0:0.5051	.	716;716	E9PDE0;Q9H0B3	.;K1683_HUMAN	L	716;716;670;330	ENSP00000376213:M716L;ENSP00000352774:M716L;ENSP00000404501:M670L	ENSP00000352774:M716L	M	-	1	0	KIAA1683	18237204	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.442000	0.06871	-0.407000	0.07576	-1.039000	0.02377	ATG		0.627	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			8	54	0	0	0	0.003080	0	8	54				
PCDHA4	56144	broad.mit.edu	37	5	140188443	140188443	+	Silent	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr5:140188443C>T	ENST00000530339.1	+	1	1671	c.1671C>T	c.(1669-1671)gaC>gaT	p.D557D	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000356878.4_Silent_p.D557D|PCDHA4_ENST00000512229.2_Silent_p.D557D|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	557	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(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTGCTGGACGAAAACGACA	0.667																																						ENST00000530339.1																			0				breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(1669-1671)gaC>gaT									75.0	76.0	76.0					5																	140188443		2203	4298	6501	SO:0001819	synonymous_variant	56144							g.chr5:140188443C>T	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1671C>T	5.37:g.140188443C>T						PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Silent_p.D557D|PCDHA4_ENST00000512229.2_Silent_p.D557D|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	p.D557D	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1671	+								O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	c.1671C>T	CCDS54916.1																																																																																				0.667	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		7	50	0	0	0	0.001984	0	7	50				
PPFIA2	8499	broad.mit.edu	37	12	81839428	81839428	+	Silent	SNP	C	C	T	rs377309697		TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr12:81839428C>T	ENST00000549396.1	-	6	637	c.477G>A	c.(475-477)cgG>cgA	p.R159R	PPFIA2_ENST00000548586.1_Silent_p.R159R|PPFIA2_ENST00000407050.4_Silent_p.R85R|PPFIA2_ENST00000333447.7_Silent_p.R141R|RP11-315E17.1_ENST00000550272.1_RNA|PPFIA2_ENST00000550359.2_Silent_p.R6R|PPFIA2_ENST00000443686.3_Silent_p.R85R|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000549325.1_Silent_p.R141R|PPFIA2_ENST00000550584.2_Silent_p.R159R|PPFIA2_ENST00000552948.1_Silent_p.R159R	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	159	Glu-rich.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.R159R(2)		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						ACTGGGCTTGCCGTTTTACCA	0.428																																						ENST00000550584.2																			2	Substitution - coding silent(2)	p.R159R(2)	lung(2)	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.(475-477)cgG>cgA		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							117.0	111.0	113.0					12																	81839428		1915	4126	6041	SO:0001819	synonymous_variant	8499							g.chr12:81839428C>T	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.477G>A	12.37:g.81839428C>T						PPFIA2_ENST00000549325.1_Silent_p.R141R|PPFIA2_ENST00000549396.1_Silent_p.R159R|PPFIA2_ENST00000443686.3_Silent_p.R85R|PPFIA2_ENST00000548586.1_Silent_p.R159R|PPFIA2_ENST00000550359.2_Silent_p.R6R|RP11-315E17.1_ENST00000550272.1_RNA|PPFIA2_ENST00000407050.4_Silent_p.R85R|PPFIA2_ENST00000333447.7_Silent_p.R141R|PPFIA2_ENST00000552948.1_Silent_p.R159R|PPFIA2_ENST00000545296.2_5'UTR	p.R159R	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN			5	772	-			85					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Silent	SNP	ENST00000549396.1	37	c.477G>A	CCDS55857.1																																																																																				0.428	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			3	48	0	0	0	0.004672	0	3	48				
ACTR1B	10120	broad.mit.edu	37	2	98275416	98275416	+	Silent	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:98275416C>T	ENST00000289228.5	-	5	582	c.366G>A	c.(364-366)gaG>gaA	p.E122E		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	122					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						CTGCCGCCTTCTCCCGGTTCT	0.607																																						ENST00000289228.5																			0				endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						c.(364-366)gaG>gaA		ARP1 actin-related protein 1 homolog B, centractin beta (yeast)							109.0	117.0	114.0					2																	98275416		2203	4300	6503	SO:0001819	synonymous_variant	10120					centrosome|dynactin complex	ATP binding|protein binding	g.chr2:98275416C>T	X82207	CCDS2033.1	2q11.1-q11.2	2008-05-20	2001-11-28		ENSG00000115073	ENSG00000115073			168	protein-coding gene	gene with protein product		605144	"""ARP1 (actin-related protein 1, yeast) homolog B (centractin beta)"""	CTRN2		7696711, 10343100	Standard	NM_005735		Approved		uc002syb.2	P42025	OTTHUMG00000130549	ENST00000289228.5:c.366G>A	2.37:g.98275416C>T							p.E122E	NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN			5	582	-			122					D3DVH2|Q53SK5|Q9BRB7	Silent	SNP	ENST00000289228.5	37	c.366G>A	CCDS2033.1																																																																																				0.607	ACTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252973.1	NM_005735		25	348	0	0	0	0.024334	0	25	348				
WDR11	55717	broad.mit.edu	37	10	122668114	122668114	+	Silent	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr10:122668114G>A	ENST00000263461.6	+	29	3810	c.3564G>A	c.(3562-3564)aaG>aaA	p.K1188K	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0	Bromo 1. {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)			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						GGAGTTTGAAGAACCTCGGTT	0.438																																						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.(3562-3564)aaG>aaA		WD repeat domain 11							100.0	104.0	103.0					10																	122668114		2203	4300	6503	SO:0001819	synonymous_variant	55717					integral to membrane		g.chr10:122668114G>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.3564G>A	10.37:g.122668114G>A						WDR11_ENST00000604509.1_3'UTR	p.K1188K	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN			29	3810	+			1188					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000263461.6	37	c.3564G>A	CCDS7619.1																																																																																				0.438	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			5	89	0	0	0	0.021553	0	5	89				
CT45A5	441521	broad.mit.edu	37	X	134947917	134947917	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chrX:134947917G>T	ENST00000463085.2	-	3	497	c.408C>A	c.(406-408)tgC>tgA	p.C136*	CT45A5_ENST00000491480.1_Nonsense_Mutation_p.C136*|CT45A4_ENST00000420087.2_Intron|CT45A5_ENST00000370724.3_Nonsense_Mutation_p.C136*			Q6NSH3	CT455_HUMAN	cancer/testis antigen family 45, member A5	136										endometrium(1)|large_intestine(2)|lung(6)	9						TTCGTCCAAGGCATCGGATTT	0.398																																						ENST00000370724.3																			0				endometrium(1)|large_intestine(2)|lung(6)	9						c.(406-408)tgC>tgA		cancer/testis antigen family 45, member A5							193.0	162.0	173.0					X																	134947917		2186	4264	6450	SO:0001587	stop_gained	441521							g.chrX:134947917G>T	AY743713	CCDS35406.1	Xq26.3	2009-03-12				ENSG00000269586			33270	protein-coding gene	gene with protein product	"""cancer/testis antigen CT45-5"""	300796				15905330	Standard	XM_006724759		Approved	CT45-5, CT45.5	uc022ces.1	Q6NSH3		ENST00000463085.2:c.408C>A	X.37:g.134947917G>T	ENSP00000424778:p.Cys136*					CT45A4_ENST00000420087.2_Intron|CT45A5_ENST00000491480.1_Nonsense_Mutation_p.C136*	p.C136*	NM_001007551.3|NM_001172288.1	NP_001007552.1|NP_001165759.1	Q6NSH3	CT455_HUMAN			3	652	-			136					A8K842|B7ZMC5	Nonsense_Mutation	SNP	ENST00000463085.2	37	c.408C>A	CCDS35406.1	.	.	.	.	.	.	.	.	.	.	G	9.466	1.094435	0.20471	.	.	ENSG00000242284	ENST00000370724;ENST00000491480	.	.	.	2.4	-4.8	0.03190	.	0.502966	0.21508	U	0.073419	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	4.7147	0.12889	0.0:0.4451:0.308:0.247	.	.	.	.	X	136	.	ENSP00000359759:C136X	C	-	3	2	CT45A5	134775583	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.811000	0.04500	-2.067000	0.00885	-0.819000	0.03115	TGC		0.398	CT45A5-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472589.1	NM_001007551		26	95	1	0	2.27525e-19	0.021523	2.51062e-19	26	95				
EBNA1BP2	10969	broad.mit.edu	37	1	43637162	43637162	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:43637162C>T	ENST00000236051.2	-	3	452	c.311G>A	c.(310-312)cGa>cAa	p.R104Q	WDR65_ENST00000372492.4_5'Flank|EBNA1BP2_ENST00000431635.2_Missense_Mutation_p.R159Q|EBNA1BP2_ENST00000472982.1_5'UTR|WDR65_ENST00000528956.1_5'Flank	NM_006824.2	NP_006815.2	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	104					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)				ACTCATCTCTCGCTGGAAGTC	0.493																																						ENST00000431635.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16						c.(475-477)cGa>cAa		EBNA1 binding protein 2							117.0	114.0	115.0					1																	43637162		2203	4300	6503	SO:0001583	missense	10969				ribosome biogenesis	membrane fraction|nucleolus	protein binding	g.chr1:43637162C>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.311G>A	1.37:g.43637162C>T	ENSP00000236051:p.Arg104Gln					EBNA1BP2_ENST00000472982.1_5'UTR|EBNA1BP2_ENST00000236051.2_Missense_Mutation_p.R104Q	p.R159Q	NM_001159936.1	NP_001153408.1	Q99848	EBP2_HUMAN			4	624	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	104					Q96A66	Missense_Mutation	SNP	ENST00000236051.2	37	c.476G>A	CCDS478.1	.	.	.	.	.	.	.	.	.	.	C	34	5.296540	0.95574	.	.	ENSG00000117395	ENST00000431635;ENST00000236051	T;T	0.75938	-0.98;-0.98	5.91	4.06	0.47325	.	0.000000	0.85682	D	0.000000	D	0.88647	0.6493	H	0.94462	3.54	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.978;0.99;0.99	D	0.89722	0.3920	10	0.87932	D	0	-20.048	10.8341	0.46677	0.0:0.8552:0.0:0.1448	.	104;104;104	B4DHA6;Q6IB29;Q99848	.;.;EBP2_HUMAN	Q	159;104	ENSP00000407323:R159Q;ENSP00000236051:R104Q	ENSP00000236051:R104Q	R	-	2	0	EBNA1BP2	43409749	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.236000	0.72339	0.851000	0.35264	0.650000	0.86243	CGA		0.493	EBNA1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019015.1			15	126	0	0	0	0.004990	0	15	126				
OTOF	9381	broad.mit.edu	37	2	26750743	26750743	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:26750743G>C	ENST00000272371.2	-	3	310	c.184C>G	c.(184-186)Ctg>Gtg	p.L62V	OTOF_ENST00000403946.3_Missense_Mutation_p.L62V	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	62					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)					TGAATCTCCAGCATCTCATTT	0.577																																					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.(184-186)Ctg>Gtg		otoferlin							103.0	102.0	102.0					2																	26750743		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.chr2:26750743G>C	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.184C>G	2.37:g.26750743G>C	ENSP00000272371:p.Leu62Val					OTOF_ENST00000403946.3_Missense_Mutation_p.L62V	p.L62V	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			3	310	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		62					B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.184C>G	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.344153	0.41498	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	D;D	0.82433	-1.61;-1.61	5.4	2.48	0.30137	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.148196	0.46758	D	0.000273	T	0.78729	0.4329	M	0.72118	2.19	0.45284	D	0.998289	P	0.35575	0.51	B	0.34779	0.189	T	0.72918	-0.4146	10	0.54805	T	0.06	-17.7672	6.8768	0.24151	0.0852:0.0:0.6046:0.3102	.	62	Q9HC10	OTOF_HUMAN	V	62	ENSP00000272371:L62V;ENSP00000385255:L62V	ENSP00000272371:L62V	L	-	1	2	OTOF	26604247	1.000000	0.71417	0.371000	0.25978	0.902000	0.53008	2.350000	0.44063	0.203000	0.20529	-0.314000	0.08810	CTG		0.577	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			11	79	0	0	0	0.010729	0	11	79				
TET2	54790	broad.mit.edu	37	4	106156428	106156428	+	Silent	SNP	A	A	G			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr4:106156428A>G	ENST00000540549.1	+	3	2189	c.1329A>G	c.(1327-1329)acA>acG	p.T443T	TET2_ENST00000394764.1_Silent_p.T443T|TET2_ENST00000513237.1_Silent_p.T464T|TET2_ENST00000413648.2_Silent_p.T443T|TET2_ENST00000305737.2_Silent_p.T443T|TET2_ENST00000545826.1_Silent_p.T443T|TET2_ENST00000380013.4_Silent_p.T443T			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	443					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)		AAAGTAACACAACACTTTTAA	0.463			"""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.(1327-1329)acA>acG		tet methylcytosine dioxygenase 2							91.0	87.0	88.0					4																	106156428		2203	4300	6503	SO:0001819	synonymous_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.chr4:106156428A>G	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.1329A>G	4.37:g.106156428A>G						TET2_ENST00000545826.1_Silent_p.T443T|TET2_ENST00000413648.2_Silent_p.T443T|TET2_ENST00000513237.1_Silent_p.T464T|TET2_ENST00000394764.1_Silent_p.T443T|TET2_ENST00000380013.4_Silent_p.T443T|TET2_ENST00000305737.2_Silent_p.T443T	p.T443T			Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	2189	+		Myeloproliferative disorder(5;0.0393)	443					B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Silent	SNP	ENST00000540549.1	37	c.1329A>G	CCDS47120.1																																																																																				0.463	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		22	45	0	0	0	0.014323	0	22	45				
ZC3H12C	85463	broad.mit.edu	37	11	110036199	110036199	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr11:110036199G>A	ENST00000278590.3	+	6	2440	c.2389G>A	c.(2389-2391)Gat>Aat	p.D797N	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.D798N|ZC3H12C_ENST00000453089.2_Missense_Mutation_p.D766N	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	797							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)		TTCCTTGCCCGATAACTCCAC	0.572																																						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.(2296-2298)Gat>Aat		zinc finger CCCH-type containing 12C							57.0	60.0	59.0					11																	110036199		1959	4136	6095	SO:0001583	missense	85463						endonuclease activity|nucleic acid binding|zinc ion binding	g.chr11:110036199G>A		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.2389G>A	11.37:g.110036199G>A	ENSP00000278590:p.Asp797Asn					ZC3H12C_ENST00000528673.1_Missense_Mutation_p.D798N|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.D797N	p.D766N			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	3177	+		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)	797					B4DI65|B4DR47	Missense_Mutation	SNP	ENST00000278590.3	37	c.2296G>A	CCDS44727.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.716606	0.00706	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.28666	1.6;1.6;1.6	5.77	5.77	0.91146	.	0.419724	0.28659	N	0.014577	T	0.11879	0.0289	N	0.16790	0.44	0.09310	N	0.999998	P;P;P	0.42161	0.772;0.772;0.772	B;B;B	0.30943	0.122;0.122;0.122	T	0.26224	-1.0109	10	0.05959	T	0.93	-25.2232	7.5684	0.27894	0.195:0.0:0.805:0.0	.	798;797;797	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	N	797;798;766	ENSP00000278590:D797N;ENSP00000431821:D798N;ENSP00000413094:D766N	ENSP00000278590:D797N	D	+	1	0	ZC3H12C	109541409	0.925000	0.31364	0.081000	0.20488	0.015000	0.08874	3.662000	0.54510	2.729000	0.93468	0.655000	0.94253	GAT		0.572	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	NM_033390		3	40	0	0	0	0.004672	0	3	40				
TRIM56	81844	broad.mit.edu	37	7	100731849	100731849	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr7:100731849C>T	ENST00000306085.6	+	3	1553	c.1256C>T	c.(1255-1257)cCa>cTa	p.P419L		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	419					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GCCCAGACCCCAAAAGAGGAA	0.642																																					Ovarian(89;1092 1379 22756 38989 39611)	ENST00000306085.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1255-1257)cCa>cTa		tripartite motif containing 56							49.0	66.0	61.0					7																	100731849		1990	4166	6156	SO:0001583	missense	81844				defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr7:100731849C>T	BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19028	protein-coding gene	gene with protein product			"""tripartite motif-containing 56"""				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.1256C>T	7.37:g.100731849C>T	ENSP00000305161:p.Pro419Leu						p.P419L	NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN			3	1553	+	Lung NSC(181;0.136)|all_lung(186;0.182)		419					Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Missense_Mutation	SNP	ENST00000306085.6	37	c.1256C>T	CCDS43625.1	.	.	.	.	.	.	.	.	.	.	C	0.980	-0.697451	0.03279	.	.	ENSG00000169871	ENST00000306085	T	0.39592	1.07	3.61	-1.12	0.09808	.	.	.	.	.	T	0.18551	0.0445	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22312	-1.0220	9	0.17369	T	0.5	.	2.0727	0.03617	0.2499:0.4707:0.1576:0.1217	.	419	Q9BRZ2	TRI56_HUMAN	L	419	ENSP00000305161:P419L	ENSP00000305161:P419L	P	+	2	0	TRIM56	100518569	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.006000	0.12833	-0.217000	0.10033	0.455000	0.32223	CCA		0.642	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	NM_030961		10	75	0	0	0	0.016723	0	10	75				
TRPC4	7223	broad.mit.edu	37	13	38357421	38357421	+	Missense_Mutation	SNP	C	C	T	rs75129764	byFrequency	TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr13:38357421C>T	ENST00000379705.3	-	2	907	c.50G>A	c.(49-51)cGc>cAc	p.R17H	TRPC4_ENST00000358477.2_Missense_Mutation_p.R17H|TRPC4_ENST00000426868.2_Missense_Mutation_p.R17H|TRPC4_ENST00000379681.3_Missense_Mutation_p.R17H|TRPC4_ENST00000355779.2_Missense_Mutation_p.R17H|TRPC4_ENST00000338947.5_Missense_Mutation_p.R17H|TRPC4_ENST00000447043.1_Missense_Mutation_p.R17H|TRPC4_ENST00000379673.2_Missense_Mutation_p.R17H|TRPC4_ENST00000379679.1_Missense_Mutation_p.R17H			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	17					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)		TAGAGGGATGCGGTCTCTATA	0.398													C|||	3	0.000599042	0.0	0.0	5008	,	,		15058	0.003		0.0	False		,,,				2504	0.0					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.(49-51)cGc>cAc		transient receptor potential cation channel, subfamily C, member 4							128.0	119.0	122.0					13																	38357421		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.chr13:38357421C>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.50G>A	13.37:g.38357421C>T	ENSP00000369027:p.Arg17His					TRPC4_ENST00000447043.1_Missense_Mutation_p.R17H|TRPC4_ENST00000338947.5_Missense_Mutation_p.R17H|TRPC4_ENST00000379673.2_Missense_Mutation_p.R17H|TRPC4_ENST00000355779.2_Missense_Mutation_p.R17H|TRPC4_ENST00000358477.2_Missense_Mutation_p.R17H|TRPC4_ENST00000379681.3_Missense_Mutation_p.R17H|TRPC4_ENST00000379679.1_Missense_Mutation_p.R17H|TRPC4_ENST00000426868.2_Missense_Mutation_p.R17H	p.R17H			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)	2	907	-			17					B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.50G>A	CCDS9365.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	33	5.223557	0.95139	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T;T	0.78003	-0.57;-0.57;-0.18;-0.18;-1.14;0.05;-0.41;-0.68;0.05	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.84383	0.5460	L	0.34521	1.04	0.80722	D	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	1.0;0.999;0.994;0.996;1.0;0.999	D	0.84490	0.0610	10	0.72032	D	0.01	-16.3967	20.8598	0.99761	0.0:1.0:0.0:0.0	.	17;17;17;17;17;17	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	H	17	ENSP00000369027:R17H;ENSP00000369003:R17H;ENSP00000342580:R17H;ENSP00000369001:R17H;ENSP00000410133:R17H;ENSP00000348025:R17H;ENSP00000351264:R17H;ENSP00000368995:R17H;ENSP00000414316:R17H	ENSP00000342580:R17H	R	-	2	0	TRPC4	37255421	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	CGC		0.398	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		4	125	0	0	0	0.009096	0	4	125				
GSTA5	221357	broad.mit.edu	37	6	52701052	52701052	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr6:52701052T>C	ENST00000370989.2	-	3	283	c.254A>G	c.(253-255)gAc>gGc	p.D85G	GSTA5_ENST00000284562.2_Missense_Mutation_p.D85G|GSTA5_ENST00000475052.1_Intron			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	85	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)	CTCCTTCATGTCTTTCCCATA	0.453																																						ENST00000370989.1																			0				endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(253-255)gAc>gGc		glutathione S-transferase alpha 5	Glutathione(DB00143)						209.0	216.0	214.0					6																	52701052		2203	4300	6503	SO:0001583	missense	221357				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52701052T>C	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.254A>G	6.37:g.52701052T>C	ENSP00000360028:p.Asp85Gly					GSTA5_ENST00000284562.2_Missense_Mutation_p.D85G|GSTA5_ENST00000475052.1_Intron	p.D85G			Q7RTV2	GSTA5_HUMAN			4	412	-	Lung NSC(77;0.0912)		85			GST C-terminal.		Q5SZC2	Missense_Mutation	SNP	ENST00000370989.2	37	c.254A>G	CCDS4946.1	.	.	.	.	.	.	.	.	.	.	T	13.52	2.261332	0.39995	.	.	ENSG00000182793	ENST00000370989;ENST00000284562	T;T	0.02085	4.46;4.46	2.59	2.59	0.31030	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.05731	0.0150	H	0.95294	3.65	0.51482	D	0.999926	P	0.38535	0.635	P	0.46362	0.514	T	0.00130	-1.2014	10	0.87932	D	0	.	10.5214	0.44920	0.0:0.0:0.0:1.0	.	85	Q7RTV2	GSTA5_HUMAN	G	85	ENSP00000360028:D85G;ENSP00000284562:D85G	ENSP00000284562:D85G	D	-	2	0	GSTA5	52809011	1.000000	0.71417	0.980000	0.43619	0.208000	0.24298	5.448000	0.66612	1.189000	0.43028	0.163000	0.16589	GAC		0.453	GSTA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040917.1	NM_153699		53	122	0	0	0	0.014410	0	53	122				
ART1	417	broad.mit.edu	37	11	3681285	3681285	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr11:3681285G>T	ENST00000250693.1	+	3	637	c.536G>T	c.(535-537)cGa>cTa	p.R179L		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	179					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)		CAGGTGTTCCGAGGTGTGCAC	0.672																																						ENST00000250693.1																			0				endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8						c.(535-537)cGa>cTa		ADP-ribosyltransferase 1	Becaplermin(DB00102)						29.0	29.0	29.0					11																	3681285		2201	4296	6497	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.chr11:3681285G>T	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.536G>T	11.37:g.3681285G>T	ENSP00000250693:p.Arg179Leu						p.R179L	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	637	+		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	179					Q6NTD2|Q96KT9	Missense_Mutation	SNP	ENST00000250693.1	37	c.536G>T	CCDS7744.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483478	0.63962	.	.	ENSG00000129744	ENST00000250693	T	0.28454	1.61	5.53	3.66	0.41972	.	0.160799	0.56097	D	0.000035	T	0.55289	0.1911	M	0.86420	2.815	0.50632	D	0.999889	D	0.62365	0.991	D	0.64595	0.927	T	0.58457	-0.7633	9	.	.	.	.	10.1833	0.42982	0.1638:0.0:0.8362:0.0	.	179	P52961	NAR1_HUMAN	L	179	ENSP00000250693:R179L	.	R	+	2	0	ART1	3637861	1.000000	0.71417	0.879000	0.34478	0.578000	0.36192	7.742000	0.85008	0.696000	0.31696	0.467000	0.42956	CGA		0.672	ART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032765.1	NM_004314		14	18	1	0	4.3838e-07	0.016723	4.72859e-07	14	18				
BSN	8927	broad.mit.edu	37	3	49689519	49689519	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr3:49689519C>T	ENST00000296452.4	+	5	2644	c.2530C>T	c.(2530-2532)Cga>Tga	p.R844*		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	844					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)		GGATTTCATGCGACGGCAGAT	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.(2530-2532)Cga>Tga		bassoon presynaptic cytomatrix protein							52.0	56.0	54.0					3																	49689519		2203	4300	6503	SO:0001587	stop_gained	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49689519C>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.2530C>T	3.37:g.49689519C>T	ENSP00000296452:p.Arg844*						p.R844*	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	2644	+			844					O43161|Q7LGH3	Nonsense_Mutation	SNP	ENST00000296452.4	37	c.2530C>T	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	37	6.607756	0.97701	.	.	ENSG00000164061	ENST00000296452	.	.	.	5.02	1.63	0.23807	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.782	0.63087	0.5784:0.4216:0.0:0.0	.	.	.	.	X	844	.	ENSP00000296452:R844X	R	+	1	2	BSN	49664523	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	1.540000	0.36115	0.435000	0.26365	0.561000	0.74099	CGA		0.622	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		12	24	0	0	0	0.013537	0	12	24				
KRTAP5-10	387273	broad.mit.edu	37	11	71276860	71276860	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr11:71276860C>G	ENST00000398531.1	+	1	252	c.227C>G	c.(226-228)tCt>tGt	p.S76C	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	76	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GACTGTGGCTCTTGTGGGGGC	0.677																																						ENST00000398531.1																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(226-228)tCt>tGt		keratin associated protein 5-10							58.0	80.0	73.0					11																	71276860		2184	4283	6467	SO:0001583	missense	387273					keratin filament		g.chr11:71276860C>G	AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"""Keratin associated proteins"""	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.227C>G	11.37:g.71276860C>G	ENSP00000381542:p.Ser76Cys					KRTAP5-10_ENST00000376536.4_Intron	p.S76C	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN			1	252	+			76			7 X 4 AA repeats of C-C-X-P.		B9EHA4	Missense_Mutation	SNP	ENST00000398531.1	37	c.227C>G	CCDS41684.1	.	.	.	.	.	.	.	.	.	.	c	3.798	-0.042315	0.07452	.	.	ENSG00000204572	ENST00000398531	T	0.01265	5.08	1.84	1.84	0.25277	.	.	.	.	.	T	0.03263	0.0095	M	0.84156	2.68	0.25267	N	0.989543	B	0.24963	0.115	B	0.26202	0.067	T	0.14172	-1.0482	9	0.72032	D	0.01	.	9.7172	0.40281	0.0:1.0:0.0:0.0	.	76	Q6L8G5	KR510_HUMAN	C	76	ENSP00000381542:S76C	ENSP00000381542:S76C	S	+	2	0	KRTAP5-10	70954508	0.001000	0.12720	0.998000	0.56505	0.013000	0.08279	0.285000	0.18883	1.373000	0.46208	0.405000	0.27470	TCT		0.677	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			94	273	0	0	0	0.014410	0	94	273				
BRWD1	54014	broad.mit.edu	37	21	40604128	40604128	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr21:40604128T>A	ENST00000333229.2	-	25	3302	c.2975A>T	c.(2974-2976)gAg>gTg	p.E992V	BRWD1_ENST00000342449.3_Missense_Mutation_p.E992V|BRWD1_ENST00000380800.3_Missense_Mutation_p.E992V	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	992					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)				TCTCCATGGCTCCTTATTAGG	0.299																																					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.(2974-2976)gAg>gTg		bromodomain and WD repeat domain containing 1							76.0	77.0	77.0					21																	40604128		2203	4299	6502	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40604128T>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.2975A>T	21.37:g.40604128T>A	ENSP00000330753:p.Glu992Val					BRWD1_ENST00000333229.2_Missense_Mutation_p.E992V|BRWD1_ENST00000380800.3_Missense_Mutation_p.E992V	p.E992V	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			25	3053	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	992					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.2975A>T	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.588453	0.86851	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.57907	0.37;0.4;0.48	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.69387	0.3105	L	0.61218	1.895	0.80722	D	1	D;D	0.89917	0.988;1.0	P;D	0.69307	0.77;0.963	T	0.72887	-0.4156	10	0.87932	D	0	-10.0383	15.6973	0.77509	0.0:0.0:0.0:1.0	.	992;992	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	V	992	ENSP00000330753:E992V;ENSP00000344333:E992V;ENSP00000370178:E992V	ENSP00000330753:E992V	E	-	2	0	BRWD1	39525998	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.603000	0.82811	2.110000	0.64415	0.482000	0.46254	GAG		0.299	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		15	39	0	0	0	0.024245	0	15	39				
MBOAT2	129642	broad.mit.edu	37	2	9008678	9008678	+	Splice_Site	SNP	A	A	G			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:9008678A>G	ENST00000305997.3	-	9	1083	c.885T>C	c.(883-885)gcT>gcC	p.A295A	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	295					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)					TAATGGCATCAGCTATAGAAA	0.333																																					Ovarian(194;1699 3813 22401)	ENST00000305997.3																		MBOAT2/PRKCE(2)	0				endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15						c.e9-1		membrane bound O-acyltransferase domain containing 2							71.0	74.0	73.0					2																	9008678		2203	4300	6503	SO:0001630	splice_region_variant	129642				phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr2:9008678A>G	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.884-1T>C	2.37:g.9008678A>G						MBOAT2_ENST00000486484.1_5'UTR	p.A295_splice	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN			9	1083	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		295					A9EDR2|Q8NCE7|Q96KY4	Splice_Site	SNP	ENST00000305997.3	37	c.883_splice	CCDS1660.1																																																																																				0.333	MBOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206735.1	NM_138799	Silent	3	96	0	0	0	0.004672	0	3	96				
USP34	9736	broad.mit.edu	37	2	61492562	61492562	+	Silent	SNP	A	A	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:61492562A>T	ENST00000398571.2	-	43	5824	c.5748T>A	c.(5746-5748)ccT>ccA	p.P1916P		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1916	USP.				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)			GTCTTGCCTCAGGTATCATAT	0.338																																						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.(5746-5748)ccT>ccA		ubiquitin specific peptidase 34							108.0	99.0	102.0					2																	61492562		1850	4087	5937	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.chr2:61492562A>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.5748T>A	2.37:g.61492562A>T							p.P1916P	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		43	5824	-			1916					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	37	c.5748T>A	CCDS42686.1																																																																																				0.338	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			15	85	0	0	0	0.028581	0	15	85				
CLEC17A	388512	broad.mit.edu	37	19	14707912	14707912	+	Splice_Site	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr19:14707912C>T	ENST00000417570.1	+	10	623	c.585C>T	c.(583-585)taC>taT	p.Y195Y	CLEC17A_ENST00000397439.2_Splice_Site_p.Y178Y|CLEC17A_ENST00000547437.1_Splice_Site_p.Y195Y	NM_001204118.1	NP_001191047.1	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	195						cell surface (GO:0009986)|integral component of membrane (GO:0016021)	fucose binding (GO:0042806)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)										TCTTCATAGACCAGGAGTTGA	0.493																																						ENST00000547437.1																			0											c.e10-1		C-type lectin domain family 17, member A							155.0	157.0	156.0					19																	14707912		2057	4204	6261	SO:0001630	splice_region_variant	388512					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity	g.chr19:14707912C>T	AK127809	CCDS46002.1, CCDS46002.2, CCDS56087.1	19p13.12	2009-06-26			ENSG00000187912	ENSG00000187912		"""C-type lectin domain containing"""	34520	protein-coding gene	gene with protein product	"""prolectin"""					19419970	Standard	NM_207390		Approved	FLJ45910	uc010dzn.2	Q6ZS10		ENST00000417570.1:c.584-1C>T	19.37:g.14707912C>T						CLEC17A_ENST00000417570.1_Splice_Site_p.Y195_splice|CLEC17A_ENST00000397439.2_Splice_Site_p.Y178_splice	p.Y195_splice	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN			10	662	+			195					A8MX68|B2RTX0|B7ZMM4	Splice_Site	SNP	ENST00000417570.1	37	c.583_splice	CCDS56087.1																																																																																				0.493	CLEC17A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403400.1	NM_207390	Silent	3	18	0	0	0	0.004672	0	3	18				
SLC12A6	9990	broad.mit.edu	37	15	34526146	34526146	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr15:34526146T>A	ENST00000354181.3	-	26	3881	c.3389A>T	c.(3388-3390)gAg>gTg	p.E1130V	SLC12A6_ENST00000560164.1_Missense_Mutation_p.E942V|SLC12A6_ENST00000397702.2_Missense_Mutation_p.E1071V|SLC12A6_ENST00000558589.1_Missense_Mutation_p.E1121V|SLC12A6_ENST00000290209.5_Missense_Mutation_p.E1079V|SLC12A6_ENST00000397707.2_Missense_Mutation_p.E1115V|SLC12A6_ENST00000458406.2_Missense_Mutation_p.E1071V|SLC12A6_ENST00000558667.1_Missense_Mutation_p.E1130V|SLC12A6_ENST00000560611.1_Missense_Mutation_p.E1130V|SLC12A6_ENST00000451844.2_Missense_Mutation_p.E942V			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	1130					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)			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)	CTCTAGTCCCTCGGTAAGCAC	0.453																																						ENST00000354181.3																			0				central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45						c.(3388-3390)gAg>gTg		solute carrier family 12 (potassium/chloride transporter), member 6	Potassium Chloride(DB00761)						111.0	97.0	102.0					15																	34526146		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.chr15:34526146T>A	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.3389A>T	15.37:g.34526146T>A	ENSP00000346112:p.Glu1130Val					SLC12A6_ENST00000458406.2_Missense_Mutation_p.E1071V|SLC12A6_ENST00000397707.2_Missense_Mutation_p.E1115V|SLC12A6_ENST00000558589.1_Missense_Mutation_p.E1121V|SLC12A6_ENST00000560611.1_Missense_Mutation_p.E1130V|SLC12A6_ENST00000451844.2_Missense_Mutation_p.E942V|SLC12A6_ENST00000558667.1_Missense_Mutation_p.E1130V|SLC12A6_ENST00000290209.5_Missense_Mutation_p.E1079V|SLC12A6_ENST00000560164.1_Missense_Mutation_p.E942V|SLC12A6_ENST00000397702.2_Missense_Mutation_p.E1071V	p.E1130V			Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	26	3881	-		all_lung(180;2.78e-08)	1130					A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	37	c.3389A>T	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.039193	0.93630	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54	4.98	4.98	0.66077	.	0.110651	0.64402	D	0.000015	T	0.75788	0.3897	M	0.88105	2.93	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.978;0.981	D;D;P;D	0.80764	0.978;0.994;0.744;0.917	T	0.81236	-0.1024	10	0.87932	D	0	.	13.7931	0.63155	0.0:0.0:0.0:1.0	.	1115;1130;1079;942	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	V	1079;1115;1121;1071;1071;942	ENSP00000290209:E1079V;ENSP00000380819:E1115V;ENSP00000380814:E1071V;ENSP00000387725:E1071V;ENSP00000390199:E942V	ENSP00000290209:E1079V	E	-	2	0	SLC12A6	32313438	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.525000	0.81892	2.087000	0.62958	0.460000	0.39030	GAG		0.453	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		10	59	0	0	0	0.013537	0	10	59				
LRRK2	120892	broad.mit.edu	37	12	40651163	40651163	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr12:40651163C>T	ENST00000298910.7	+	12	1460	c.1402C>T	c.(1402-1404)Cat>Tat	p.H468Y	LRRK2_ENST00000343742.2_Missense_Mutation_p.H468Y	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	468					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)				AATGCTAAATCATCTTTTTGA	0.318																																						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.(1402-1404)Cat>Tat		leucine-rich repeat kinase 2							99.0	104.0	102.0					12																	40651163		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.chr12:40651163C>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.1402C>T	12.37:g.40651163C>T	ENSP00000298910:p.His468Tyr					LRRK2_ENST00000343742.2_Missense_Mutation_p.H468Y	p.H468Y	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			12	1460	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	468					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.1402C>T	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	C	3.685	-0.064689	0.07273	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.34667	1.35;1.35	6.17	6.17	0.99709	Armadillo-like helical (1);Armadillo-type fold (1);	0.242826	0.44285	D	0.000468	T	0.23727	0.0574	L	0.29908	0.895	0.29552	N	0.851289	B;B	0.15473	0.013;0.007	B;B	0.13407	0.009;0.003	T	0.18493	-1.0335	10	0.02654	T	1	.	12.9056	0.58149	0.0:0.9255:0.0:0.0745	.	468;468	E9PC85;Q5S007	.;LRRK2_HUMAN	Y	468	ENSP00000341930:H468Y;ENSP00000298910:H468Y	ENSP00000298910:H468Y	H	+	1	0	LRRK2	38937430	1.000000	0.71417	0.974000	0.42286	0.959000	0.62525	2.613000	0.46351	2.941000	0.99782	0.655000	0.94253	CAT		0.318	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		13	120	0	0	0	0.020292	0	13	120				
AHNAK	79026	broad.mit.edu	37	11	62294494	62294494	+	Silent	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr11:62294494G>A	ENST00000378024.4	-	5	7669	c.7395C>T	c.(7393-7395)ccC>ccT	p.P2465P	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2465					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)				CCTTGATTTTGGGTCCTTTGA	0.443																																						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.(7393-7395)ccC>ccT		AHNAK nucleoprotein							155.0	158.0	157.0					11																	62294494		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62294494G>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.7395C>T	11.37:g.62294494G>A						AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.P2465P	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	7669	-		Melanoma(852;0.155)	2465					A1A586	Silent	SNP	ENST00000378024.4	37	c.7395C>T	CCDS31584.1																																																																																				0.443	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		23	216	0	0	0	0.018920	0	23	216				
TEX2	55852	broad.mit.edu	37	17	62291153	62291153	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr17:62291153C>T	ENST00000583097.1	-	2	597	c.425G>A	c.(424-426)gGg>gAg	p.G142E	TEX2_ENST00000584379.1_Missense_Mutation_p.G142E|TEX2_ENST00000258991.3_Missense_Mutation_p.G142E			Q8IWB9	TEX2_HUMAN	testis expressed 2	142					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)		AGCTAAGGGCCCCGACGAAGA	0.527																																						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.(424-426)gGg>gAg		testis expressed 2							79.0	80.0	80.0					17																	62291153		2203	4300	6503	SO:0001583	missense	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62291153C>T	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.425G>A	17.37:g.62291153C>T	ENSP00000462665:p.Gly142Glu					TEX2_ENST00000583097.1_Missense_Mutation_p.G142E|TEX2_ENST00000584379.1_Missense_Mutation_p.G142E	p.G142E			Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	2	509	-			142					Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	ENST00000583097.1	37	c.425G>A		.	.	.	.	.	.	.	.	.	.	C	4.260	0.047384	0.08243	.	.	ENSG00000136478	ENST00000258991	T	0.47177	0.85	5.6	3.47	0.39725	.	0.419172	0.26369	N	0.024767	T	0.27559	0.0677	N	0.14661	0.345	0.29027	N	0.885918	P;P	0.41131	0.739;0.622	B;B	0.38954	0.286;0.149	T	0.16928	-1.0386	10	0.72032	D	0.01	-20.1359	5.8463	0.18667	0.1447:0.6438:0.1392:0.0723	.	142;142	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	E	142	ENSP00000258991:G142E	ENSP00000258991:G142E	G	-	2	0	TEX2	59644885	0.998000	0.40836	0.984000	0.44739	0.313000	0.28021	1.258000	0.32944	1.342000	0.45619	0.655000	0.94253	GGG		0.527	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		11	109	0	0	0	0.008291	0	11	109				
CCDC7	79741	broad.mit.edu	37	10	33094002	33094002	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr10:33094002A>G	ENST00000375028.3	+	9	884	c.814A>G	c.(814-816)Aag>Gag	p.K272E	C10orf68_ENST00000375025.4_Missense_Mutation_p.K332E|C10orf68_ENST00000375030.2_Intron			Q9H943	CJ068_HUMAN		296										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TGATGAATTCAAGACACAGTC	0.308																																						ENST00000375028.3																			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.(814-816)Aag>Gag		chromosome 10 open reading frame 68							88.0	101.0	97.0					10																	33094002		2201	4298	6499	SO:0001583	missense	79741							g.chr10:33094002A>G																												ENST00000375028.3:c.814A>G	10.37:g.33094002A>G	ENSP00000364168:p.Lys272Glu					C10orf68_ENST00000375030.2_Intron|C10orf68_ENST00000375025.4_Missense_Mutation_p.K332E	p.K272E			Q9H943	CJ068_HUMAN			9	884	+			296					B0QZ71|Q08AN7|Q8N7T7	Missense_Mutation	SNP	ENST00000375028.3	37	c.814A>G		.	.	.	.	.	.	.	.	.	.	.	12.36	1.914061	0.33815	.	.	ENSG00000150076	ENST00000302316;ENST00000375028;ENST00000375025;ENST00000375037	T;T;T	0.30714	1.54;1.53;1.52	2.1	0.906	0.19314	.	.	.	.	.	T	0.35913	0.0948	L	0.52573	1.65	0.09310	N	1	D;D;D	0.60160	0.974;0.974;0.987	P;P;P	0.55999	0.789;0.789;0.789	T	0.13737	-1.0498	9	0.40728	T	0.16	.	5.04	0.14454	0.6854:0.3146:0.0:0.0	.	249;296;272	B4DX58;Q9H943;A2A3B4	.;CJ068_HUMAN;.	E	296;272;332;244	ENSP00000303710:K296E;ENSP00000364168:K272E;ENSP00000364165:K332E	ENSP00000303710:K296E	K	+	1	0	C10orf68	33134008	0.004000	0.15560	0.004000	0.12327	0.197000	0.23852	0.074000	0.14662	0.254000	0.21573	0.383000	0.25322	AAG		0.308	C10orf68-002	PUTATIVE	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000314000.2			3	166	0	0	0	0.021553	0	3	166				
EPN3	55040	broad.mit.edu	37	17	48618855	48618855	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr17:48618855G>A	ENST00000268933.3	+	9	1964	c.1385G>A	c.(1384-1386)aGt>aAt	p.S462N	RP11-94C24.8_ENST00000513017.1_RNA|EPN3_ENST00000537145.1_Missense_Mutation_p.S490N|EPN3_ENST00000541226.1_3'UTR	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	462						clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CCCAGCCCCAGTTCCAAGCAA	0.577																																						ENST00000268933.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						c.(1384-1386)aGt>aAt		epsin 3							52.0	53.0	53.0					17																	48618855		2203	4300	6503	SO:0001583	missense	55040					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding	g.chr17:48618855G>A	AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.1385G>A	17.37:g.48618855G>A	ENSP00000268933:p.Ser462Asn					EPN3_ENST00000537145.1_Missense_Mutation_p.S490N|EPN3_ENST00000541226.1_3'UTR	p.S462N	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.88e-09)		9	1964	+	Breast(11;1.23e-18)		462					A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Missense_Mutation	SNP	ENST00000268933.3	37	c.1385G>A	CCDS11570.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.131659	0.37630	.	.	ENSG00000049283	ENST00000268933;ENST00000442715;ENST00000537145	T;T	0.26810	1.71;1.71	5.06	4.07	0.47477	.	0.558425	0.19233	N	0.119368	T	0.26991	0.0661	L	0.59436	1.845	0.41882	D	0.990326	B;B;B	0.19331	0.021;0.035;0.004	B;B;B	0.22753	0.007;0.041;0.003	T	0.04522	-1.0945	10	0.22706	T	0.39	-9.1668	13.9453	0.64080	0.0:0.2902:0.7098:0.0	.	490;490;462	B4DK18;F6QWW5;Q9H201	.;.;EPN3_HUMAN	N	462;490;490	ENSP00000268933:S462N;ENSP00000439512:S490N	ENSP00000268933:S462N	S	+	2	0	EPN3	45973854	0.760000	0.28428	0.977000	0.42913	0.901000	0.52897	1.889000	0.39718	1.116000	0.41820	0.561000	0.74099	AGT		0.577	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1	NM_017957		6	50	0	0	0	0.003080	0	6	50				
C6orf211	79624	broad.mit.edu	37	6	151785628	151785628	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr6:151785628G>A	ENST00000367294.3	+	4	692	c.433G>A	c.(433-435)Gag>Aag	p.E145K	C6orf211_ENST00000545879.1_Missense_Mutation_p.E26K|C6orf211_ENST00000483931.1_3'UTR	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	145										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)		AGAATCAAAAGAGCAAAATTT	0.328																																						ENST00000367294.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15						c.(433-435)Gag>Aag		chromosome 6 open reading frame 211							77.0	76.0	76.0					6																	151785628		2203	4296	6499	SO:0001583	missense	79624						protein binding	g.chr6:151785628G>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.433G>A	6.37:g.151785628G>A	ENSP00000356263:p.Glu145Lys					C6orf211_ENST00000483931.1_3'UTR|C6orf211_ENST00000545879.1_Missense_Mutation_p.E26K	p.E145K	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	692	+			145					Q96FC6|Q9UFY5	Missense_Mutation	SNP	ENST00000367294.3	37	c.433G>A	CCDS5233.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588722	0.28357	.	.	ENSG00000146476	ENST00000367294;ENST00000545879	T;T	0.06849	3.25;3.25	5.64	2.73	0.32206	Domain of unknown function DUF89 (2);	0.760330	0.12413	N	0.471138	T	0.01353	0.0044	L	0.31371	0.925	0.26910	N	0.966917	B	0.14438	0.01	B	0.19946	0.027	T	0.48246	-0.9052	10	0.07644	T	0.81	.	3.9635	0.09421	0.138:0.1299:0.5974:0.1347	.	145	Q9H993	CF211_HUMAN	K	145;26	ENSP00000356263:E145K;ENSP00000444121:E26K	ENSP00000356263:E145K	E	+	1	0	C6orf211	151827321	0.981000	0.34729	0.825000	0.32803	0.609000	0.37215	1.909000	0.39917	0.708000	0.31955	-0.145000	0.13849	GAG		0.328	C6orf211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042724.1	NM_024573		6	37	0	0	0	0.021553	0	6	37				
OR2T11	127077	broad.mit.edu	37	1	248790265	248790265	+	Silent	SNP	G	G	A	rs537122223		TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:248790265G>A	ENST00000330803.2	-	1	226	c.165C>T	c.(163-165)ccC>ccT	p.P55P		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	55						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)			GAAAGTACATGGGGGTGTGGA	0.468																																						ENST00000330803.2																			0				breast(1)|large_intestine(5)|lung(20)|skin(2)	28						c.(163-165)ccC>ccT		olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)							65.0	72.0	70.0					1																	248790265		2052	4235	6287	SO:0001819	synonymous_variant	127077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248790265G>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.165C>T	1.37:g.248790265G>A							p.P55P	NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	226	-	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)		55					Q6IEY6	Silent	SNP	ENST00000330803.2	37	c.165C>T	CCDS31122.1																																																																																				0.468	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964		6	69	0	0	0	0.001984	0	6	69				
ZNF597	146434	broad.mit.edu	37	16	3486915	3486915	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr16:3486915G>A	ENST00000301744.4	-	4	1019	c.784C>T	c.(784-786)Cac>Tac	p.H262Y		NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	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)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						TCAGCACTGTGGCTTTTCTGA	0.438																																						ENST00000301744.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						c.(784-786)Cac>Tac		zinc finger protein 597							118.0	118.0	118.0					16																	3486915		2197	4300	6497	SO:0001583	missense	146434				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:3486915G>A	AK057633	CCDS10505.1	16p13.3	2013-01-08			ENSG00000167981	ENSG00000167981		"""Zinc fingers, C2H2-type"", ""-"""	26573	protein-coding gene	gene with protein product		614685				12477932	Standard	NM_152457		Approved	FLJ33071	uc002cvd.3	Q96LX8	OTTHUMG00000129359	ENST00000301744.4:c.784C>T	16.37:g.3486915G>A	ENSP00000301744:p.His262Tyr					LA16c-306E5.2_ENST00000575785.1_RNA	p.H262Y	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN			4	1019	-			262						Missense_Mutation	SNP	ENST00000301744.4	37	c.784C>T	CCDS10505.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.182397	0.38511	.	.	ENSG00000167981	ENST00000301744	T	0.70749	-0.51	4.76	2.79	0.32731	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46145	D	0.000306	D	0.87410	0.6170	H	0.96691	3.865	0.36169	D	0.848642	D	0.89917	1.0	D	0.78314	0.991	D	0.90173	0.4237	10	0.87932	D	0	-4.1608	9.4038	0.38449	0.1737:0.0:0.8263:0.0	.	262	Q96LX8	ZN597_HUMAN	Y	262	ENSP00000301744:H262Y	ENSP00000301744:H262Y	H	-	1	0	ZNF597	3426916	1.000000	0.71417	0.424000	0.26647	0.111000	0.19643	9.411000	0.97342	0.722000	0.32252	0.650000	0.86243	CAC		0.438	ZNF597-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251511.2	NM_152457		14	120	0	0	0	0.004990	0	14	120				
KIAA1462	57608	broad.mit.edu	37	10	30316179	30316179	+	Silent	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr10:30316179G>A	ENST00000375377.1	-	3	2999	c.2898C>T	c.(2896-2898)gaC>gaT	p.D966D		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	966					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						CTGCCAGCTCGTCCATTCCGT	0.567																																						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.(2896-2898)gaC>gaT		KIAA1462							76.0	76.0	76.0					10																	30316179		2038	4198	6236	SO:0001819	synonymous_variant	57608							g.chr10:30316179G>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.2898C>T	10.37:g.30316179G>A							p.D966D	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	2999	-			966					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	ENST00000375377.1	37	c.2898C>T	CCDS41500.1																																																																																				0.567	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		20	59	0	0	0	0.010504	0	20	59				
SHANK2	22941	broad.mit.edu	37	11	70332040	70332040	+	Missense_Mutation	SNP	G	G	A	rs267603165		TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr11:70332040G>A	ENST00000423696.2	-	15	3257	c.3221C>T	c.(3220-3222)tCc>tTc	p.S1074F	SHANK2_ENST00000449833.2_Missense_Mutation_p.S858F|SHANK2_ENST00000338508.4_Missense_Mutation_p.S1454F|SHANK2_ENST00000409161.1_Missense_Mutation_p.S857F			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1074					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)			TGGTTGGCTGGAGTTCAACGA	0.547																																						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.(4360-4362)tCc>tTc		SH3 and multiple ankyrin repeat domains 2							75.0	77.0	76.0					11																	70332040		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.chr11:70332040G>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.3221C>T	11.37:g.70332040G>A	ENSP00000394536:p.Ser1074Phe					SHANK2_ENST00000449833.2_Missense_Mutation_p.S858F|SHANK2_ENST00000423696.2_Missense_Mutation_p.S1074F|SHANK2_ENST00000409161.1_Missense_Mutation_p.S857F	p.S1454F			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		32	4360	-			1074			SAM.		C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.4361C>T		.	.	.	.	.	.	.	.	.	.	G	16.66	3.184347	0.57800	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.43294	2.25;2.24;2.96;0.95;2.37;2.37	5.46	4.53	0.55603	.	0.549008	0.22408	N	0.060451	T	0.49558	0.1564	L	0.58101	1.795	0.80722	D	1	P;P;P	0.42123	0.523;0.771;0.654	B;B;P	0.46940	0.248;0.404;0.532	T	0.53781	-0.8390	10	0.72032	D	0.01	.	15.0013	0.71473	0.0:0.0:0.8562:0.1438	.	1074;1453;858	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	F	858;857;732;1454;1074;1092;1077	ENSP00000399423:S858F;ENSP00000386491:S857F;ENSP00000402944:S732F;ENSP00000345193:S1454F;ENSP00000394536:S1074F;ENSP00000294018:S1077F	ENSP00000294018:S1077F	S	-	2	0	SHANK2	70009688	1.000000	0.71417	0.636000	0.29352	0.984000	0.73092	8.686000	0.91250	1.257000	0.44085	0.655000	0.94253	TCC		0.547	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		8	297	0	0	0	0.003080	0	8	297				
KTI12	112970	broad.mit.edu	37	1	52499004	52499004	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:52499004C>T	ENST00000371614.1	-	1	484	c.430G>A	c.(430-432)Gcc>Acc	p.A144T	TXNDC12_ENST00000371626.4_Intron|RP11-91A18.4_ENST00000425802.1_RNA	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	144							ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						GCCGCCTGGGCTCTCCCGTCC	0.672																																						ENST00000371614.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						c.(430-432)Gcc>Acc		KTI12 homolog, chromatin associated (S. cerevisiae)							41.0	48.0	45.0					1																	52499004		2203	4300	6503	SO:0001583	missense	112970						ATP binding	g.chr1:52499004C>T		CCDS562.1	1p32.3	2008-02-05			ENSG00000198841	ENSG00000198841			25160	protein-coding gene	gene with protein product						11929532	Standard	NM_138417		Approved	TOT4, MGC20419, SBBI81	uc001ctj.1	Q96EK9	OTTHUMG00000008630	ENST00000371614.1:c.430G>A	1.37:g.52499004C>T	ENSP00000360676:p.Ala144Thr					TXNDC12_ENST00000472624.1_Intron|TXNDC12_ENST00000371626.4_Intron	p.A144T	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN			1	484	-			144						Missense_Mutation	SNP	ENST00000371614.1	37	c.430G>A	CCDS562.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.901141	0.33535	.	.	ENSG00000198841	ENST00000371614	T	0.44482	0.92	4.83	-3.94	0.04130	.	.	.	.	.	T	0.18923	0.0454	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24764	-1.0151	9	0.15499	T	0.54	.	2.3175	0.04202	0.4055:0.1174:0.3591:0.118	.	144	Q96EK9	KTI12_HUMAN	T	144	ENSP00000360676:A144T	ENSP00000360676:A144T	A	-	1	0	KTI12	52271592	0.001000	0.12720	0.001000	0.08648	0.126000	0.20510	-0.317000	0.08060	-0.730000	0.04869	-0.133000	0.14855	GCC		0.672	KTI12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023821.1	NM_138417		21	72	0	0	0	0.024334	0	21	72				
FHL5	9457	broad.mit.edu	37	6	97052644	97052644	+	Missense_Mutation	SNP	C	C	T	rs145856574	byFrequency	TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr6:97052644C>T	ENST00000326771.2	+	4	558	c.178C>T	c.(178-180)Cgg>Tgg	p.R60W	FHL5_ENST00000541107.1_Missense_Mutation_p.R60W	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	60	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		TTACAAAGACCGGCACTGGCA	0.433													C|||	8	0.00159744	0.0061	0.0	5008	,	,		20057	0.0		0.0	False		,,,				2504	0.0					ENST00000326771.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27						c.(178-180)Cgg>Tgg		four and a half LIM domains 5		C	TRP/ARG,TRP/ARG	31,4375	36.8+/-68.6	0,31,2172	87.0	81.0	83.0		178,178	2.5	0.9	6	dbSNP_134	83	0,8600		0,0,4300	yes	missense,missense	FHL5	NM_001170807.1,NM_020482.4	101,101	0,31,6472	TT,TC,CC		0.0,0.7036,0.2384	probably-damaging,probably-damaging	60/285,60/285	97052644	31,12975	2203	4300	6503	SO:0001583	missense	9457					nucleus	zinc ion binding	g.chr6:97052644C>T	AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.178C>T	6.37:g.97052644C>T	ENSP00000326022:p.Arg60Trp					FHL5_ENST00000541107.1_Missense_Mutation_p.R60W	p.R60W	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0948)	4	558	+		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)	60			LIM zinc-binding 1.		B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Missense_Mutation	SNP	ENST00000326771.2	37	c.178C>T	CCDS5035.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	C	14.68	2.608431	0.46527	0.007036	0.0	ENSG00000112214	ENST00000541107;ENST00000326771;ENST00000450218	D;D;D	0.88124	-2.34;-2.34;-2.34	5.36	2.55	0.30701	Zinc finger, LIM-type (5);	0.641528	0.13069	N	0.416233	D	0.83450	0.5257	H	0.95365	3.66	0.44337	D	0.99722	P	0.38223	0.623	B	0.33295	0.161	T	0.82123	-0.0613	10	0.87932	D	0	.	5.2407	0.15469	0.2644:0.5391:0.1277:0.0688	.	60	Q5TD97	FHL5_HUMAN	W	60	ENSP00000442357:R60W;ENSP00000326022:R60W;ENSP00000396390:R60W	ENSP00000326022:R60W	R	+	1	2	FHL5	97159365	1.000000	0.71417	0.875000	0.34327	0.998000	0.95712	2.539000	0.45718	0.309000	0.22966	0.655000	0.94253	CGG		0.433	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041559.1	NM_020482		10	56	0	0	0	0.008291	0	10	56				
EPB41L3	23136	broad.mit.edu	37	18	5397374	5397374	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr18:5397374G>C	ENST00000341928.2	-	18	2864	c.2524C>G	c.(2524-2526)Cac>Gac	p.H842D	EPB41L3_ENST00000400111.3_Missense_Mutation_p.H620D|EPB41L3_ENST00000542146.1_Missense_Mutation_p.H147D|EPB41L3_ENST00000427684.2_Missense_Mutation_p.H139D|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000540638.2_Missense_Mutation_p.H620D|EPB41L3_ENST00000342933.3_Missense_Mutation_p.H842D|EPB41L3_ENST00000544123.1_Missense_Mutation_p.H673D	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	842	Spectrin--actin-binding. {ECO:0000255}.				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						GGCAGGTGGTGCACGGTGGGT	0.567																																						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.(2524-2526)Cac>Gac		erythrocyte membrane protein band 4.1-like 3							54.0	59.0	57.0					18																	5397374		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.chr18:5397374G>C	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.2524C>G	18.37:g.5397374G>C	ENSP00000343158:p.His842Asp					EPB41L3_ENST00000544123.1_Missense_Mutation_p.H673D|EPB41L3_ENST00000540638.2_Missense_Mutation_p.H620D|EPB41L3_ENST00000400111.3_Missense_Mutation_p.H620D|EPB41L3_ENST00000342933.3_Missense_Mutation_p.H842D|EPB41L3_ENST00000542146.1_Missense_Mutation_p.H147D|EPB41L3_ENST00000427684.2_Missense_Mutation_p.H139D|EPB41L3_ENST00000542652.2_5'UTR	p.H842D	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			18	2864	-			842			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.2524C>G	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	4.655	0.121846	0.08931	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	T;D;T;T;T;D	0.82167	-1.42;-1.58;-0.0;-0.01;-1.42;-1.58	5.67	3.85	0.44370	.	1.672630	0.02437	N	0.084159	T	0.81064	0.4745	L	0.50333	1.59	0.09310	N	1	B;B;B;B;B;B;B;B	0.26195	0.082;0.087;0.137;0.02;0.012;0.006;0.02;0.144	B;B;B;B;B;B;B;B	0.29077	0.049;0.035;0.098;0.028;0.006;0.02;0.028;0.035	T	0.59375	-0.7466	10	0.13470	T	0.59	.	10.7883	0.46417	0.0679:0.0:0.8009:0.1311	.	673;139;147;234;511;620;842;77	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	D	842;511;673;511;139;147;842;620	ENSP00000343158:H842D;ENSP00000441174:H673D;ENSP00000392195:H139D;ENSP00000442233:H147D;ENSP00000341138:H842D;ENSP00000382981:H620D	ENSP00000343158:H842D	H	-	1	0	EPB41L3	5387374	0.010000	0.17322	0.001000	0.08648	0.011000	0.07611	1.717000	0.37991	0.708000	0.31955	0.591000	0.81541	CAC		0.567	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		14	52	0	0	0	0.020292	0	14	52				
RANBP10	57610	broad.mit.edu	37	16	67778207	67778207	+	Silent	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr16:67778207C>T	ENST00000317506.3	-	4	667	c.552G>A	c.(550-552)aaG>aaA	p.K184K	RANBP10_ENST00000602677.1_Silent_p.K184K|RANBP10_ENST00000448631.2_Intron|RANBP10_ENST00000536251.1_5'UTR|RANBP10_ENST00000425512.2_Silent_p.K52K|RANBP10_ENST00000411657.2_Silent_p.K67K|RANBP10_ENST00000602887.1_5'UTR	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	184	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)		TGTGGCCATTCTTGGTGTAGA	0.582																																						ENST00000317506.3																			0				endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23						c.(550-552)aaG>aaA		RAN binding protein 10							171.0	128.0	142.0					16																	67778207		2198	4300	6498	SO:0001819	synonymous_variant	57610							g.chr16:67778207C>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.552G>A	16.37:g.67778207C>T						RANBP10_ENST00000448631.2_Intron|RANBP10_ENST00000411657.2_Silent_p.K67K|RANBP10_ENST00000536251.1_5'UTR|RANBP10_ENST00000425512.2_Silent_p.K52K|RANBP10_ENST00000602887.1_5'UTR|RANBP10_ENST00000602677.1_Silent_p.K184K	p.K184K	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)	4	667	-		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)	184			B30.2/SPRY.		A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Silent	SNP	ENST00000317506.3	37	c.552G>A	CCDS32469.1																																																																																				0.582	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467896.1	NM_020850		6	70	0	0	0	0.003080	0	6	70				
MAP3K19	80122	broad.mit.edu	37	2	135744631	135744631	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:135744631T>A	ENST00000375845.3	-	7	1841	c.1811A>T	c.(1810-1812)cAc>cTc	p.H604L	MAP3K19_ENST00000392915.1_Missense_Mutation_p.H621L|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.H491L|MAP3K19_ENST00000392918.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	604							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										CTGAGTCCGGTGAGTTGATTG	0.453																																						ENST00000375845.3																			0											c.(1810-1812)cAc>cTc		mitogen-activated protein kinase kinase kinase 19							134.0	142.0	139.0					2																	135744631		2203	4300	6503	SO:0001583	missense	80122							g.chr2:135744631T>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.1811A>T	2.37:g.135744631T>A	ENSP00000365005:p.His604Leu					MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.H491L|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Missense_Mutation_p.H621L	p.H604L	NM_025052.3	NP_079328.3					7	1841	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.1811A>T	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	T	3.076	-0.190021	0.06299	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	T;T;T	0.68479	-0.33;-0.33;2.04	5.28	1.13	0.20643	.	1.024570	0.07790	N	0.954784	T	0.46190	0.1380	N	0.19112	0.55	0.09310	N	0.999999	B;B;B	0.16802	0.004;0.019;0.003	B;B;B	0.12156	0.004;0.007;0.002	T	0.27191	-1.0081	10	0.17832	T	0.49	.	5.0372	0.14440	0.1208:0.0693:0.1125:0.6973	.	491;621;604	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	L	604;491;621	ENSP00000365005:H604L;ENSP00000351140:H491L;ENSP00000376647:H621L	ENSP00000351140:H491L	H	-	2	0	YSK4	135461101	0.000000	0.05858	0.001000	0.08648	0.514000	0.34195	-0.028000	0.12350	0.404000	0.25506	0.533000	0.62120	CAC		0.453	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		28	132	0	0	0	0.027356	0	28	132				
MARCH7	64844	broad.mit.edu	37	2	160599714	160599714	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:160599714G>A	ENST00000259050.4	+	3	418	c.296G>A	c.(295-297)tGt>tAt	p.C99Y	MARCH7_ENST00000409591.1_Missense_Mutation_p.C61Y|MARCH7_ENST00000409175.1_Missense_Mutation_p.C99Y|MARCH7_ENST00000473749.1_3'UTR|MARCH7_ENST00000539065.1_Missense_Mutation_p.C99Y	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	99	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						TGTACAAACTGTACTACCTCA	0.403																																						ENST00000259050.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						c.(295-297)tGt>tAt		membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase							131.0	126.0	128.0					2																	160599714		2203	4300	6503	SO:0001583	missense	64844						ligase activity|zinc ion binding	g.chr2:160599714G>A	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.296G>A	2.37:g.160599714G>A	ENSP00000259050:p.Cys99Tyr					MARCH7_ENST00000539065.1_Missense_Mutation_p.C99Y|MARCH7_ENST00000473749.1_3'UTR|MARCH7_ENST00000409591.1_Missense_Mutation_p.C61Y|MARCH7_ENST00000409175.1_Missense_Mutation_p.C99Y	p.C99Y	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN			3	418	+			99			Ser-rich.		A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Missense_Mutation	SNP	ENST00000259050.4	37	c.296G>A	CCDS2210.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.902236	0.52227	.	.	ENSG00000136536	ENST00000409175;ENST00000539065;ENST00000259050;ENST00000421037;ENST00000409591	T;T;T;T;T	0.57595	2.55;2.62;2.55;0.39;2.55	5.54	5.54	0.83059	.	0.236379	0.43110	D	0.000613	T	0.65333	0.2681	L	0.48362	1.52	0.29470	N	0.857105	B;D;D	0.71674	0.023;0.998;0.998	B;D;D	0.78314	0.026;0.991;0.991	T	0.61491	-0.7052	10	0.38643	T	0.18	-32.0337	14.9924	0.71399	0.0:0.0:1.0:0.0	.	99;61;99	F5H6W4;B7Z7P5;Q9H992	.;.;MARH7_HUMAN	Y	99;99;99;99;61	ENSP00000386830:C99Y;ENSP00000442992:C99Y;ENSP00000259050:C99Y;ENSP00000392862:C99Y;ENSP00000387238:C61Y	ENSP00000259050:C99Y	C	+	2	0	MARCH7	160307960	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.334000	0.52097	2.607000	0.88179	0.650000	0.86243	TGT		0.403	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255040.3	NM_022826		10	56	0	0	0	0.010729	0	10	56				
ZNF501	115560	broad.mit.edu	37	3	44776296	44776296	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr3:44776296A>G	ENST00000396048.2	+	3	820	c.383A>G	c.(382-384)cAt>cGt	p.H128R	KIAA1143_ENST00000484437.1_5'Flank	NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN	zinc finger protein 501	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)|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)		CAGCGAATTCATACTGGAGAG	0.408																																						ENST00000396048.2																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11						c.(382-384)cAt>cGt		zinc finger protein 501							72.0	80.0	77.0					3																	44776296		2202	4299	6501	SO:0001583	missense	115560				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44776296A>G	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.383A>G	3.37:g.44776296A>G	ENSP00000379363:p.His128Arg						p.H128R	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	820	+			128					B4DLY7|Q96NU9	Missense_Mutation	SNP	ENST00000396048.2	37	c.383A>G	CCDS2720.2	.	.	.	.	.	.	.	.	.	.	A	17.49	3.402699	0.62288	.	.	ENSG00000186446	ENST00000396048;ENST00000332489	T	0.67523	-0.27	3.07	0.75	0.18387	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.67487	0.2898	M	0.93978	3.48	0.26098	N	0.980854	P;B	0.38129	0.619;0.006	B;B	0.28553	0.091;0.007	T	0.64214	-0.6460	9	0.87932	D	0	.	6.84	0.23957	0.77:0.0:0.23:0.0	.	128;128	Q96CX3-2;Q96CX3	.;ZN501_HUMAN	R	128	ENSP00000379363:H128R	ENSP00000330388:H128R	H	+	2	0	ZNF501	44751300	1.000000	0.71417	0.916000	0.36221	0.983000	0.72400	5.256000	0.65468	0.404000	0.25506	0.460000	0.39030	CAT		0.408	ZNF501-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256654.4	NM_145044		18	33	0	0	0	0.007413	0	18	33				
GOT1	2805	broad.mit.edu	37	10	101190305	101190305	+	Silent	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr10:101190305G>A	ENST00000370508.5	-	1	45	c.18C>T	c.(16-18)gtC>gtT	p.V6V	GOT1_ENST00000543866.1_5'Flank|GOT1_ENST00000471741.1_5'UTR|RP11-441O15.3_ENST00000416191.2_lincRNA	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	6					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)	CCTCGGCAAAGACTGACGGAG	0.617																																					Melanoma(173;770 3544 21601)	ENST00000370508.5																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16						c.(16-18)gtC>gtT		glutamic-oxaloacetic transaminase 1, soluble	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						99.0	101.0	100.0					10																	101190305		2203	4300	6503	SO:0001819	synonymous_variant	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.chr10:101190305G>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.18C>T	10.37:g.101190305G>A						GOT1_ENST00000471741.1_5'UTR	p.V6V	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	1	45	-		Ovarian(717;0.028)|Colorectal(252;0.234)	6					B2R6R7|B7Z7E9|Q5VW80	Silent	SNP	ENST00000370508.5	37	c.18C>T	CCDS7479.1																																																																																				0.617	GOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049794.1	NM_002079		13	93	0	0	0	0.013537	0	13	93				
HIST1H2BB	3018	broad.mit.edu	37	6	26043662	26043662	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr6:26043662G>A	ENST00000357905.2	-	1	223	c.224C>T	c.(223-225)gCg>gTg	p.A75V	HIST1H3C_ENST00000540144.1_5'Flank	NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	75					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						AGCCTCGCCCGCGATGCGCTC	0.597																																						ENST00000357905.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(223-225)gCg>gTg		histone cluster 1, H2bb							123.0	120.0	121.0					6																	26043662		2203	4300	6503	SO:0001583	missense	3018				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26043662G>A	AF531285	CCDS4575.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196226			"""Histones / Replication-dependent"""	4751	protein-coding gene	gene with protein product		602803	"""H2B histone family, member F"", ""histone 1, H2bb"""	H2BFF		8227173, 12408966	Standard	NM_021062		Approved	H2B/f	uc003nfu.3	P33778	OTTHUMG00000014421	ENST00000357905.2:c.224C>T	6.37:g.26043662G>A	ENSP00000350580:p.Ala75Val						p.A75V	NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN			1	223	-			75					Q4KN36	Missense_Mutation	SNP	ENST00000357905.2	37	c.224C>T	CCDS4575.1	.	.	.	.	.	.	.	.	.	.	g	16.21	3.057910	0.55325	.	.	ENSG00000196226	ENST00000357905	T	0.69435	-0.4	5.08	5.08	0.68730	Histone-fold (2);Histone core (1);	0.000000	0.56097	U	0.000025	T	0.57315	0.2045	M	0.67625	2.065	0.51767	D	0.999938	B	0.20052	0.041	B	0.17433	0.018	T	0.62124	-0.6920	10	0.87932	D	0	.	17.8155	0.88632	0.0:0.0:1.0:0.0	.	75	P33778	H2B1B_HUMAN	V	75	ENSP00000350580:A75V	ENSP00000350580:A75V	A	-	2	0	HIST1H2BB	26151641	1.000000	0.71417	0.992000	0.48379	0.724000	0.41520	9.818000	0.99354	2.498000	0.84270	0.467000	0.42956	GCG		0.597	HIST1H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040083.1	NM_021062		36	89	0	0	0	0.017118	0	36	89				
ANAPC1	64682	broad.mit.edu	37	2	112608479	112608479	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:112608479C>A	ENST00000341068.3	-	14	2296	c.1524G>T	c.(1522-1524)aaG>aaT	p.K508N		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	508					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)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GAATAAAAACCTTTCCCACCT	0.378																																						ENST00000341068.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(1522-1524)aaG>aaT		anaphase promoting complex subunit 1							26.0	27.0	27.0					2																	112608479		2200	4297	6497	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|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|cytosol|nucleoplasm		g.chr2:112608479C>A	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1524G>T	2.37:g.112608479C>A	ENSP00000339109:p.Lys508Asn						p.K508N	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN			14	2296	-			508					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.1524G>T	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.29|17.29	3.351167|3.351167	0.61183|0.61183	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000427997|ENST00000341068	.|.	.|.	.|.	4.57|4.57	0.0274|0.0274	0.14154|0.14154	.|.	.|0.316264	.|0.20758	.|U	.|0.086203	T|T	0.61751|0.61751	0.2372|0.2372	M|M	0.79693|0.79693	2.465|2.465	0.43021|0.43021	D|D	0.994573|0.994573	.|B	.|0.20780	.|0.048	.|B	.|0.26770	.|0.073	T|T	0.60444|0.60444	-0.7262|-0.7262	5|9	.|0.51188	.|T	.|0.08	-7.1986|-7.1986	10.8604|10.8604	0.46823|0.46823	0.0:0.5449:0.0:0.4551|0.0:0.5449:0.0:0.4551	.|.	.|508	.|Q9H1A4	.|APC1_HUMAN	C|N	43|508	.|.	.|ENSP00000339109:K508N	G|K	-|-	1|3	0|2	ANAPC1|ANAPC1	112324950|112324950	0.941000|0.941000	0.31946|0.31946	0.999000|0.999000	0.59377|0.59377	0.993000|0.993000	0.82548|0.82548	-0.032000|-0.032000	0.12266|0.12266	0.061000|0.061000	0.16311|0.16311	0.449000|0.449000	0.29647|0.29647	GGT|AAG		0.378	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		4	20	1	0	5.9392e-07	0.021553	6.37054e-07	4	20				
FAM13C	220965	broad.mit.edu	37	10	61022290	61022290	+	Silent	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr10:61022290G>A	ENST00000373868.2	-	10	1227	c.1140C>T	c.(1138-1140)ggC>ggT	p.G380G	FAM13C_ENST00000373867.3_Silent_p.G297G|FAM13C_ENST00000442566.3_Silent_p.G401G|FAM13C_ENST00000277705.6_Silent_p.G401G|FAM13C_ENST00000435852.2_Silent_p.G380G|FAM13C_ENST00000468840.2_Silent_p.G297G|FAM13C_ENST00000419214.2_Intron|FAM13C_ENST00000422313.2_Silent_p.G380G	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	380										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						TTGGCTCCGGGCCCGCAGCTT	0.547																																						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.(889-891)ggC>ggT		family with sequence similarity 13, member C							68.0	71.0	70.0					10																	61022290		2203	4300	6503	SO:0001819	synonymous_variant	220965							g.chr10:61022290G>A	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.1140C>T	10.37:g.61022290G>A						FAM13C_ENST00000442566.3_Silent_p.G401G|FAM13C_ENST00000277705.6_Silent_p.G401G|FAM13C_ENST00000468840.2_Silent_p.G297G|FAM13C_ENST00000422313.2_Silent_p.G380G|FAM13C_ENST00000419214.2_Intron|FAM13C_ENST00000373868.2_Silent_p.G380G|FAM13C_ENST00000435852.2_Silent_p.G380G	p.G297G	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN			11	1356	-			380					B7ZB77|Q5T631|Q6P2M3|Q99787	Silent	SNP	ENST00000373868.2	37	c.891C>T	CCDS7255.1																																																																																				0.547	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2			7	64	0	0	0	0.004482	0	7	64				
DENND2D	79961	broad.mit.edu	37	1	111731345	111731345	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:111731345G>A	ENST00000357640.4	-	10	1307	c.1078C>T	c.(1078-1080)Cag>Tag	p.Q360*	DENND2D_ENST00000369752.5_Nonsense_Mutation_p.Q357*	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	360					positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		TTGATCCCCTGACCAAGAGAG	0.468																																						ENST00000357640.4																			0				breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25						c.(1078-1080)Cag>Tag		DENN/MADD domain containing 2D							214.0	211.0	212.0					1																	111731345		2203	4300	6503	SO:0001587	stop_gained	79961							g.chr1:111731345G>A		CCDS831.1, CCDS60219.1	1p13.3	2014-02-12	2005-08-17		ENSG00000162777	ENSG00000162777		"""DENN/MADD domain containing"""	26192	protein-coding gene	gene with protein product		615111				12477932	Standard	NM_024901		Approved	FLJ22457, RP5-1180E21.2	uc001eal.2	Q9H6A0	OTTHUMG00000012356	ENST00000357640.4:c.1078C>T	1.37:g.111731345G>A	ENSP00000350266:p.Gln360*					DENND2D_ENST00000369752.5_Nonsense_Mutation_p.Q357*	p.Q360*	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)	10	1307	-		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)	360					Q5T5V6|Q9BSU0	Nonsense_Mutation	SNP	ENST00000357640.4	37	c.1078C>T	CCDS831.1	.	.	.	.	.	.	.	.	.	.	G	34	5.383627	0.95967	.	.	ENSG00000162777	ENST00000357640;ENST00000369752	.	.	.	5.2	5.2	0.72013	.	4.173570	0.00166	N	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-4.1186	14.5805	0.68284	0.0:0.0:1.0:0.0	.	.	.	.	X	360;357	.	ENSP00000350266:Q360X	Q	-	1	0	DENND2D	111532868	0.916000	0.31088	0.016000	0.15963	0.058000	0.15608	2.756000	0.47549	2.586000	0.87340	0.655000	0.94253	CAG		0.468	DENND2D-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000034456.1	NM_024901		8	207	0	0	0	0.008291	0	8	207				
MED12	9968	broad.mit.edu	37	X	70356763	70356763	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chrX:70356763A>G	ENST00000374080.3	+	38	5467	c.5435A>G	c.(5434-5436)tAt>tGt	p.Y1812C	MED12_ENST00000374102.1_Missense_Mutation_p.Y1812C|MED12_ENST00000333646.6_Missense_Mutation_p.Y1812C			Q93074	MED12_HUMAN	mediator complex subunit 12	1812	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)					AGCGGCCCTTATGGTGTGACA	0.592			"""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.(5434-5436)tAt>tGt		mediator complex subunit 12							46.0	49.0	48.0					X																	70356763		1979	4129	6108	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:70356763A>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.5435A>G	X.37:g.70356763A>G	ENSP00000363193:p.Tyr1812Cys					MED12_ENST00000374080.3_Missense_Mutation_p.Y1812C|MED12_ENST00000478889.1_3'UTR|MED12_ENST00000374102.1_Missense_Mutation_p.Y1812C	p.Y1812C	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			38	5634	+	Renal(35;0.156)		1812			Interaction with CTNNB1 and GLI3.		O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.5435A>G	CCDS43970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	13.13|13.13	2.144408|2.144408	0.37825|0.37825	.|.	.|.	ENSG00000184634|ENSG00000184634	ENST00000444034|ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750	.|T;T;T;T;T	.|0.57752	.|0.38;0.38;0.38;0.38;1.45	4.39|4.39	4.39|4.39	0.52855|0.52855	.|.	.|0.067807	.|0.64402	.|D	.|0.000009	T|T	0.57315|0.57315	0.2045|0.2045	N|N	0.24115|0.24115	0.695|0.695	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;D;D	.|0.76494	.|0.999;0.999;0.999;0.999	.|D;D;D;D	.|0.79784	.|0.993;0.984;0.993;0.984	T|T	0.58440|0.58440	-0.7636|-0.7636	5|10	.|0.41790	.|T	.|0.15	-10.7818|-10.7818	13.2197|13.2197	0.59881|0.59881	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1812;1659;1812;1812	.|F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.|.;.;.;MED12_HUMAN	V|C	33|1812;1812;1812;1812;1780;557	.|ENSP00000333125:Y1812C;ENSP00000363215:Y1812C;ENSP00000363193:Y1812C;ENSP00000414203:Y1780C;ENSP00000408388:Y557C	.|ENSP00000333125:Y1812C	M|Y	+|+	1|2	0|0	MED12|MED12	70273488|70273488	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.915000|0.915000	0.54546|0.54546	7.592000|7.592000	0.82676|0.82676	1.761000|1.761000	0.52028|0.52028	0.427000|0.427000	0.28365|0.28365	ATG|TAT		0.592	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		15	42	0	0	0	0.024245	0	15	42				
LRRC66	339977	broad.mit.edu	37	4	52861044	52861044	+	Missense_Mutation	SNP	G	G	A	rs532384573	byFrequency	TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr4:52861044G>A	ENST00000343457.3	-	4	2150	c.2144C>T	c.(2143-2145)tCc>tTc	p.S715F		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	715						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TGAACTTATGGAGCTCAGAGT	0.527													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20427	0.0		0.0	False		,,,				2504	0.0					ENST00000343457.3																			0				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						c.(2143-2145)tCc>tTc		leucine rich repeat containing 66							95.0	91.0	92.0					4																	52861044		2008	4187	6195	SO:0001583	missense	339977					integral to membrane		g.chr4:52861044G>A	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.2144C>T	4.37:g.52861044G>A	ENSP00000341944:p.Ser715Phe						p.S715F	NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN			4	2150	-			715						Missense_Mutation	SNP	ENST00000343457.3	37	c.2144C>T	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159998	0.38119	.	.	ENSG00000188993	ENST00000343457	T	0.38887	1.11	4.27	4.27	0.50696	.	0.000000	0.40818	N	0.001002	T	0.52661	0.1748	L	0.36672	1.1	0.35461	D	0.796512	D	0.89917	1.0	D	0.85130	0.997	T	0.64007	-0.6508	10	0.87932	D	0	-14.7285	12.3898	0.55352	0.0:0.0:1.0:0.0	.	715	Q68CR7	LRC66_HUMAN	F	715	ENSP00000341944:S715F	ENSP00000341944:S715F	S	-	2	0	LRRC66	52555801	0.993000	0.37304	0.716000	0.30569	0.024000	0.10985	2.902000	0.48703	2.375000	0.81037	0.655000	0.94253	TCC		0.527	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		4	87	0	0	0	0.009096	0	4	87				
KRR1	11103	broad.mit.edu	37	12	75905362	75905362	+	Silent	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr12:75905362G>A	ENST00000229214.4	-	1	39	c.16C>T	c.(16-18)Ctg>Ttg	p.L6L	KRR1_ENST00000438169.2_Silent_p.L6L	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	6					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						GGCCGCTCCAGCGAGGGAGAC	0.527																																						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.(16-18)Ctg>Ttg		KRR1, small subunit (SSU) processome component, homolog (yeast)							82.0	78.0	79.0					12																	75905362		2203	4300	6503	SO:0001819	synonymous_variant	11103				rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding	g.chr12:75905362G>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.16C>T	12.37:g.75905362G>A						KRR1_ENST00000438169.2_Silent_p.L6L	p.L6L	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN			1	39	-			6					A0FIK6|A0JLP0|B2R989|E7EUQ0|Q8NEA8|Q8TC37|Q96AT5	Silent	SNP	ENST00000229214.4	37	c.16C>T	CCDS9012.1																																																																																				0.527	KRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405727.1	NM_007043		6	69	0	0	0	0.006214	0	6	69				
ICE1	23379	broad.mit.edu	37	5	5461426	5461426	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr5:5461426C>A	ENST00000296564.7	+	13	2201	c.1979C>A	c.(1978-1980)aCt>aAt	p.T660N		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		660					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						ACAGATATTACTACTAAAGTA	0.393																																						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.(1978-1980)aCt>aAt		KIAA0947							71.0	69.0	70.0					5																	5461426		1855	4102	5957	SO:0001583	missense	23379							g.chr5:5461426C>A																												ENST00000296564.7:c.1979C>A	5.37:g.5461426C>A	ENSP00000296564:p.Thr660Asn						p.T660N	NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN			13	2201	+			660					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	c.1979C>A	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.381912	0.24944	.	.	ENSG00000164151	ENST00000296564	T	0.10763	2.84	4.59	2.46	0.29980	.	1.101940	0.07008	N	0.824683	T	0.05181	0.0138	N	0.08118	0	0.09310	N	1	B	0.33135	0.399	B	0.28709	0.093	T	0.35822	-0.9773	10	0.35671	T	0.21	-1.1564	4.4502	0.11617	0.0:0.6502:0.0:0.3498	.	660	Q9Y2F5	K0947_HUMAN	N	660	ENSP00000296564:T660N	ENSP00000296564:T660N	T	+	2	0	KIAA0947	5514426	0.001000	0.12720	0.001000	0.08648	0.227000	0.25037	0.716000	0.25836	0.918000	0.36919	0.305000	0.20034	ACT		0.393	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			16	62	1	0	4.7546e-09	0.028581	5.18684e-09	16	62				
DROSHA	29102	broad.mit.edu	37	5	31409214	31409214	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr5:31409214C>T	ENST00000511367.2	-	32	4047	c.3803G>A	c.(3802-3804)tGt>tAt	p.C1268Y	DROSHA_ENST00000344624.3_Missense_Mutation_p.C1268Y|DROSHA_ENST00000442743.1_Missense_Mutation_p.C1231Y|DROSHA_ENST00000513349.1_Missense_Mutation_p.C1231Y	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1268	DRBM.|Necessary for interaction with DGCR8 and pri-miRNA processing activity.				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						TGTCAAGCAACACTGCTGAAG	0.453																																						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.(3802-3804)tGt>tAt		drosha, ribonuclease type III							74.0	71.0	72.0					5																	31409214		1890	4124	6014	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.chr5:31409214C>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.3803G>A	5.37:g.31409214C>T	ENSP00000425979:p.Cys1268Tyr					DROSHA_ENST00000442743.1_Missense_Mutation_p.C1231Y|DROSHA_ENST00000344624.3_Missense_Mutation_p.C1268Y|DROSHA_ENST00000513349.1_Missense_Mutation_p.C1231Y	p.C1268Y	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN			32	4047	-			1268			DRBM.|Necessary for interaction with DGCR8 and pri-miRNA processing activity.		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	c.3803G>A	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.476425	0.84640	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075	T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7	5.34	5.34	0.76211	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	T	0.70771	0.3262	N	0.13327	0.33	0.80722	D	1	P;B	0.45283	0.855;0.43	P;B	0.55713	0.782;0.316	T	0.75488	-0.3300	10	0.62326	D	0.03	-13.0924	19.0541	0.93056	0.0:1.0:0.0:0.0	.	1231;1268	E7EMP9;Q9NRR4	.;RNC_HUMAN	Y	1268;1268;1231;1231;1193	ENSP00000425979:C1268Y;ENSP00000339845:C1268Y;ENSP00000409335:C1231Y;ENSP00000424161:C1231Y	ENSP00000265075:C1193Y	C	-	2	0	DROSHA	31444971	1.000000	0.71417	0.983000	0.44433	0.995000	0.86356	7.378000	0.79679	2.508000	0.84585	0.655000	0.94253	TGT		0.453	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		8	51	0	0	0	0.004482	0	8	51				
CLCA4	22802	broad.mit.edu	37	1	87012825	87012825	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:87012825T>C	ENST00000370563.3	+	1	65	c.23T>C	c.(22-24)gTt>gCt	p.V8A	CLCA4_ENST00000263723.5_5'Flank	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	8					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		AGAGGTTTTGTTTTCCTCTTA	0.363																																						ENST00000370563.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(22-24)gTt>gCt		chloride channel accessory 4							214.0	202.0	206.0					1																	87012825		1831	4082	5913	SO:0001583	missense	22802					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:87012825T>C	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.23T>C	1.37:g.87012825T>C	ENSP00000359594:p.Val8Ala						p.V8A	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN		all cancers(265;0.0202)|Epithelial(280;0.0404)	1	65	+		Lung NSC(277;0.238)	8					A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	ENST00000370563.3	37	c.23T>C	CCDS41355.1	.	.	.	.	.	.	.	.	.	.	T	10.24	1.296034	0.23650	.	.	ENSG00000016602	ENST00000370563	T	0.12672	2.66	5.51	1.96	0.26148	Chloride channel calcium-activated (1);	1.170360	0.06051	N	0.656542	T	0.04724	0.0128	L	0.52364	1.645	0.09310	N	1	B	0.15141	0.012	B	0.20767	0.031	T	0.42531	-0.9446	10	0.30078	T	0.28	-2.9999	6.621	0.22802	0.0:0.2743:0.0:0.7257	.	8	Q14CN2	CLCA4_HUMAN	A	8	ENSP00000359594:V8A	ENSP00000359594:V8A	V	+	2	0	CLCA4	86785413	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	0.059000	0.14322	0.478000	0.27488	0.533000	0.62120	GTT		0.363	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		11	98	0	0	0	0.016723	0	11	98				
ZADH2	284273	broad.mit.edu	37	18	72914175	72914175	+	Silent	SNP	A	A	G			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr18:72914175A>G	ENST00000322342.3	-	2	619	c.330T>C	c.(328-330)tcT>tcC	p.S110S	ZADH2_ENST00000537114.2_5'UTR	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	110						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)		TGGCACTAGCAGAGAGGCCTA	0.537																																						ENST00000322342.3																			0				endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15						c.(328-330)tcT>tcC		zinc binding alcohol dehydrogenase domain containing 2							138.0	135.0	136.0					18																	72914175		2203	4300	6503	SO:0001819	synonymous_variant	284273					peroxisome	oxidoreductase activity|zinc ion binding	g.chr18:72914175A>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.330T>C	18.37:g.72914175A>G						ZADH2_ENST00000537114.2_5'UTR	p.S110S	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)	2	619	-		Esophageal squamous(42;0.131)|Prostate(75;0.155)	110					A8KA15|B4DZ91	Silent	SNP	ENST00000322342.3	37	c.330T>C	CCDS12008.1																																																																																				0.537	ZADH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256332.1	NM_175907		12	108	0	0	0	0.013537	0	12	108				
ANKRD2	26287	broad.mit.edu	37	10	99340627	99340627	+	Silent	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr10:99340627C>T	ENST00000307518.5	+	5	820	c.553C>T	c.(553-555)Ctg>Ttg	p.L185L	ANKRD2_ENST00000298808.5_Silent_p.L185L|ANKRD2_ENST00000455090.1_Silent_p.L158L|ANKRD2_ENST00000370655.1_Silent_p.L158L			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	185					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|euchromatin (GO:0000791)|I band (GO:0031674)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	protein kinase B binding (GO:0043422)|structural constituent of muscle (GO:0008307)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		TCGGACAGCACTGCACCGAGC	0.627																																						ENST00000307518.5																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7						c.(553-555)Ctg>Ttg		ankyrin repeat domain 2 (stretch responsive muscle)							30.0	28.0	29.0					10																	99340627		2203	4300	6503	SO:0001819	synonymous_variant	26287				muscle contraction|muscle organ development		structural constituent of muscle	g.chr10:99340627C>T	AJ304805	CCDS7466.1, CCDS44468.1	10q23	2013-01-10			ENSG00000165887	ENSG00000165887		"""Ankyrin repeat domain containing"""	495	protein-coding gene	gene with protein product		610734				10873377, 15136035, 15677738	Standard	NM_001129981		Approved	ARPP	uc001knw.3	Q9GZV1	OTTHUMG00000018860	ENST00000307518.5:c.553C>T	10.37:g.99340627C>T						ANKRD2_ENST00000298808.5_Silent_p.L185L|ANKRD2_ENST00000455090.1_Silent_p.L158L|ANKRD2_ENST00000370655.1_Silent_p.L158L	p.L185L			Q9GZV1	ANKR2_HUMAN		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)	5	820	+		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)	185					Q3B778|Q5T456|Q70EZ9|Q8WUD7|Q96MG0|Q9NQC9	Silent	SNP	ENST00000307518.5	37	c.553C>T	CCDS7466.1																																																																																				0.627	ANKRD2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				3	9	0	0	0	0.009096	0	3	9				
ZNF90	7643	broad.mit.edu	37	19	20229657	20229657	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr19:20229657A>G	ENST00000418063.2	+	4	1406	c.1294A>G	c.(1294-1296)Aaa>Gaa	p.K432E	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	432					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)|lung(2)|ovary(1)|skin(1)	5						AGAATGTGACAAAGTCTTCAA	0.413																																						ENST00000418063.2																			0				breast(1)|lung(2)|ovary(1)|skin(1)	5						c.(1294-1296)Aaa>Gaa		zinc finger protein 90							48.0	44.0	45.0					19																	20229657		692	1591	2283	SO:0001583	missense	7643					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20229657A>G	M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"""Zinc fingers, C2H2-type"", ""-"""	13165	protein-coding gene	gene with protein product		603973	"""zinc finger protein 90 (HTF9)"""			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.1294A>G	19.37:g.20229657A>G	ENSP00000410466:p.Lys432Glu					ZNF90_ENST00000474284.1_Intron	p.K432E	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN			4	1406	+			432					B9EH87	Missense_Mutation	SNP	ENST00000418063.2	37	c.1294A>G	CCDS46028.1	.	.	.	.	.	.	.	.	.	.	A	14.51	2.555499	0.45487	.	.	ENSG00000213988	ENST00000418063	T	0.27104	1.69	0.793	0.793	0.18632	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45538	0.1347	M	0.79011	2.435	0.25133	N	0.990552	D	0.76494	0.999	D	0.78314	0.991	T	0.19811	-1.0294	8	.	.	.	.	5.5344	0.17003	1.0:0.0:0.0:0.0	.	432	Q03938	ZNF90_HUMAN	E	432	ENSP00000410466:K432E	.	K	+	1	0	ZNF90	20090657	0.021000	0.18746	0.028000	0.17463	0.028000	0.11728	1.349000	0.33998	0.243000	0.21327	0.240000	0.17902	AAA		0.413	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350101.1	NM_007138		3	13	0	0	0	0.004672	0	3	13				
BMP10	27302	broad.mit.edu	37	2	69092867	69092867	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:69092867G>A	ENST00000295379.1	-	2	1329	c.1171C>T	c.(1171-1173)Ccc>Tcc	p.P391S		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	391					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						AGCTTTGTGGGCACACAGCAG	0.512																																						ENST00000295379.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						c.(1171-1173)Ccc>Tcc		bone morphogenetic protein 10							162.0	160.0	161.0					2																	69092867		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.chr2:69092867G>A	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.1171C>T	2.37:g.69092867G>A	ENSP00000295379:p.Pro391Ser						p.P391S	NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN			2	1329	-			391					Q53R17|Q6NTE0	Missense_Mutation	SNP	ENST00000295379.1	37	c.1171C>T	CCDS1890.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066785	0.76301	.	.	ENSG00000163217	ENST00000295379	D	0.96913	-4.17	6.17	6.17	0.99709	Transforming growth factor-beta, C-terminal (3);	0.046862	0.85682	D	0.000000	D	0.98735	0.9575	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.68943	0.961	D	0.99174	1.0865	10	0.72032	D	0.01	.	15.3567	0.74431	0.0:0.1387:0.8613:0.0	.	391	O95393	BMP10_HUMAN	S	391	ENSP00000295379:P391S	ENSP00000295379:P391S	P	-	1	0	BMP10	68946371	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.884000	0.87274	2.941000	0.99782	0.655000	0.94253	CCC		0.512	BMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251768.1	NM_014482		4	153	0	0	0	0.009096	0	4	153				
ARAP2	116984	broad.mit.edu	37	4	36162102	36162102	+	Silent	SNP	G	G	A	rs371532699		TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr4:36162102G>A	ENST00000303965.4	-	13	2910	c.2421C>T	c.(2419-2421)ctC>ctT	p.L807L		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	807	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				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						CTTCTTTGGTGAGAGATGCCA	0.289																																						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.(2419-2421)ctC>ctT		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2		G		0,4400		0,0,2200	35.0	36.0	35.0		2421	-1.4	1.0	4		35	3,8571	3.0+/-9.4	0,3,4284	no	coding-synonymous	ARAP2	NM_015230.3		0,3,6484	AA,AG,GG		0.035,0.0,0.0231		807/1705	36162102	3,12971	2200	4287	6487	SO:0001819	synonymous_variant	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.chr4:36162102G>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.2421C>T	4.37:g.36162102G>A							p.L807L	NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN			13	2910	-			807			Arf-GAP.		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Silent	SNP	ENST00000303965.4	37	c.2421C>T	CCDS3441.1																																																																																				0.289	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		3	36	0	0	0	0.009096	0	3	36				
SEC23B	10483	broad.mit.edu	37	20	18529385	18529385	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr20:18529385T>A	ENST00000336714.3	+	16	2308	c.1876T>A	c.(1876-1878)Tac>Aac	p.Y626N	SEC23B_ENST00000377465.1_Missense_Mutation_p.Y626N|SEC23B_ENST00000377475.3_Missense_Mutation_p.Y626N|SEC23B_ENST00000262544.2_Missense_Mutation_p.Y626N|AL121893.1_ENST00000578930.1_RNA	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	626					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						GCCCATTCTCTACTCTTACTC	0.438																																						ENST00000336714.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						c.(1876-1878)Tac>Aac		Sec23 homolog B (S. cerevisiae)							125.0	105.0	112.0					20																	18529385		2203	4300	6503	SO:0001583	missense	10483				ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding	g.chr20:18529385T>A	X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"""Sec23 (S. cerevisiae) homolog B"", ""congenital dyserythropoietic anemia, type II"""	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.1876T>A	20.37:g.18529385T>A	ENSP00000338844:p.Tyr626Asn					SEC23B_ENST00000262544.2_Missense_Mutation_p.Y626N|SEC23B_ENST00000377465.1_Missense_Mutation_p.Y626N|SEC23B_ENST00000377475.3_Missense_Mutation_p.Y626N	p.Y626N	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN			16	2308	+			626					D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	ENST00000336714.3	37	c.1876T>A	CCDS13137.1	.	.	.	.	.	.	.	.	.	.	T	18.82	3.704225	0.68615	.	.	ENSG00000101310	ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465;ENST00000422877	D;D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22;-3.22	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	D	0.93497	0.7925	M	0.79475	2.455	0.80722	D	1	P;P	0.39831	0.57;0.69	B;B	0.43867	0.223;0.434	D	0.92637	0.6121	10	0.33940	T	0.23	-15.5683	13.5779	0.61885	0.0:0.0:0.0:1.0	.	608;626	B4DJW8;Q15437	.;SC23B_HUMAN	N	626;626;626;626;134	ENSP00000338844:Y626N;ENSP00000262544:Y626N;ENSP00000366695:Y626N;ENSP00000366685:Y626N;ENSP00000409882:Y134N	ENSP00000262544:Y626N	Y	+	1	0	SEC23B	18477385	1.000000	0.71417	0.998000	0.56505	0.833000	0.47200	7.781000	0.85668	1.996000	0.58369	0.460000	0.39030	TAC		0.438	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5			14	52	0	0	0	0.028581	0	14	52				
DCP1A	55802	broad.mit.edu	37	3	53381537	53381537	+	Missense_Mutation	SNP	G	G	A	rs555794342		TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr3:53381537G>A	ENST00000607628.1	-	1	117	c.8C>T	c.(7-9)gCg>gTg	p.A3V	DCP1A_ENST00000480258.1_5'UTR|DCP1A_ENST00000606822.1_Missense_Mutation_p.A3V|DCP1A_ENST00000294241.6_Missense_Mutation_p.A3V	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	3					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)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		TCGACTCAGCGCCTCCATCTT	0.622																																						ENST00000607628.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(7-9)gCg>gTg		decapping mRNA 1A							66.0	78.0	74.0					3																	53381537		2120	4252	6372	SO:0001583	missense	55802				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding	g.chr3:53381537G>A	AJ275986	CCDS74946.1	3p21.1	2013-05-02	2013-05-02		ENSG00000162290	ENSG00000272886			18714	protein-coding gene	gene with protein product		607010	"""DCP1 decapping enzyme homolog A (S. cerevisiae)"""				Standard	XM_005278360		Approved	HSA275986, SMIF, SMAD4IP1	uc021wzi.1	Q9NPI6	OTTHUMG00000158193	ENST00000607628.1:c.8C>T	3.37:g.53381537G>A	ENSP00000475920:p.Ala3Val					DCP1A_ENST00000294241.6_Missense_Mutation_p.A3V|DCP1A_ENST00000606822.1_Missense_Mutation_p.A3V|DCP1A_ENST00000480258.1_5'UTR	p.A3V	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)	1	117	-			3					B4DHN9|U3KQM8	Missense_Mutation	SNP	ENST00000607628.1	37	c.8C>T																																																																																					0.622	DCP1A-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_018403		7	44	0	0	0	0.006214	0	7	44				
SEC31A	22872	broad.mit.edu	37	4	83774850	83774850	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr4:83774850A>G	ENST00000395310.2	-	18	2209	c.2027T>C	c.(2026-2028)cTt>cCt	p.L676P	SEC31A_ENST00000508502.1_Missense_Mutation_p.L676P|SEC31A_ENST00000443462.2_Missense_Mutation_p.L671P|SEC31A_ENST00000513858.1_Missense_Mutation_p.L637P|SEC31A_ENST00000326950.5_Missense_Mutation_p.L637P|SEC31A_ENST00000508479.1_Missense_Mutation_p.L676P|SEC31A_ENST00000509142.1_Missense_Mutation_p.L676P|SEC31A_ENST00000505984.1_Missense_Mutation_p.L637P|SEC31A_ENST00000348405.4_Missense_Mutation_p.L637P|SEC31A_ENST00000505472.1_Missense_Mutation_p.L676P|SEC31A_ENST00000311785.7_Missense_Mutation_p.L676P|SEC31A_ENST00000355196.2_Missense_Mutation_p.L676P|SEC31A_ENST00000500777.2_Missense_Mutation_p.L637P|SEC31A_ENST00000432794.1_Missense_Mutation_p.L676P|SEC31A_ENST00000448323.1_Missense_Mutation_p.L676P|SEC31A_ENST00000264405.5_Missense_Mutation_p.L409P	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	676					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|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)|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)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TTCATTTTCAAGCCTGGTTCC	0.378																																						ENST00000432794.1																		SEC31A/ALK(3)|SEC31A/JAK2(4)	0				breast(1)	1						c.(2026-2028)cTt>cCt		SEC31 homolog A (S. cerevisiae)							75.0	74.0	74.0					4																	83774850		2203	4300	6503	SO:0001583	missense	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83774850A>G	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.2027T>C	4.37:g.83774850A>G	ENSP00000378721:p.Leu676Pro					SEC31A_ENST00000311785.7_Missense_Mutation_p.L676P|SEC31A_ENST00000508479.1_Missense_Mutation_p.L676P|SEC31A_ENST00000264405.5_Missense_Mutation_p.L409P|SEC31A_ENST00000509142.1_Missense_Mutation_p.L676P|SEC31A_ENST00000508502.1_Missense_Mutation_p.L676P|SEC31A_ENST00000395310.2_Missense_Mutation_p.L676P|SEC31A_ENST00000505984.1_Missense_Mutation_p.L637P|SEC31A_ENST00000505472.1_Missense_Mutation_p.L676P|SEC31A_ENST00000500777.2_Missense_Mutation_p.L637P|SEC31A_ENST00000448323.1_Missense_Mutation_p.L676P|SEC31A_ENST00000443462.2_Missense_Mutation_p.L671P|SEC31A_ENST00000355196.2_Missense_Mutation_p.L676P|SEC31A_ENST00000348405.4_Missense_Mutation_p.L637P|SEC31A_ENST00000326950.5_Missense_Mutation_p.L637P|SEC31A_ENST00000513858.1_Missense_Mutation_p.L637P	p.L676P			O94979	SC31A_HUMAN			18	2190	-		Hepatocellular(203;0.114)	676					B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	ENST00000395310.2	37	c.2027T>C	CCDS3596.1	.	.	.	.	.	.	.	.	.	.	A	18.83	3.707974	0.68615	.	.	ENSG00000138674	ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984;ENST00000508479;ENST00000510167	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.73152	-0.72;-0.53;0.42;0.43;-0.55;0.42;0.42;-0.72;-0.55;-0.7;-0.53;0.45;0.42;1.27;0.34;0.35;0.97	6.05	6.05	0.98169	.	0.066207	0.64402	D	0.000006	D	0.88070	0.6338	M	0.92604	3.325	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	1.0;1.0;0.999;1.0;0.998;0.997;0.999;1.0;1.0	D	0.90729	0.4641	10	0.87932	D	0	-20.658	16.5932	0.84781	1.0:0.0:0.0:0.0	.	671;637;676;637;637;676;676;676;409	B4DIW6;B7ZL00;D6RHZ5;O94979-6;O94979-4;O94979-3;O94979-2;O94979;O94979-7	.;.;.;.;.;.;.;SC31A_HUMAN;.	P	637;637;676;671;676;676;676;637;676;676;637;676;676;409;637;676;264	ENSP00000337602:L637P;ENSP00000426886:L637P;ENSP00000378721:L676P;ENSP00000408027:L671P;ENSP00000426569:L676P;ENSP00000407944:L676P;ENSP00000400926:L676P;ENSP00000325087:L637P;ENSP00000309070:L676P;ENSP00000421633:L676P;ENSP00000421464:L637P;ENSP00000424635:L676P;ENSP00000347329:L676P;ENSP00000264405:L409P;ENSP00000424451:L637P;ENSP00000425999:L676P;ENSP00000422267:L264P	ENSP00000264405:L409P	L	-	2	0	SEC31A	83993874	1.000000	0.71417	0.998000	0.56505	0.279000	0.26890	8.829000	0.92055	2.320000	0.78422	0.528000	0.53228	CTT		0.378	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		14	40	0	0	0	0.024245	0	14	40				
CPAMD8	27151	broad.mit.edu	37	19	17057903	17057903	+	Silent	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr19:17057903C>T	ENST00000443236.1	-	21	2815	c.2784G>A	c.(2782-2784)ctG>ctA	p.L928L		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	881						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						TGTTGAGTCCCAGGTCGCTGA	0.592																																						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.(2782-2784)ctG>ctA		C3 and PZP-like, alpha-2-macroglobulin domain containing 8							96.0	96.0	96.0					19																	17057903		1952	4144	6096	SO:0001819	synonymous_variant	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17057903C>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.2784G>A	19.37:g.17057903C>T							p.L928L	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			21	2815	-			881					Q8NC09|Q9ULD7	Silent	SNP	ENST00000443236.1	37	c.2784G>A	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	C	2.945	-0.218117	0.06101	.	.	ENSG00000160111	ENST00000443236	.	.	.	3.5	-1.03	0.10102	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8983	0.41331	0.449:0.4503:0.1007:0.0	.	.	.	.	X	939	.	.	W	-	2	0	CPAMD8	16918903	0.999000	0.42202	0.264000	0.24511	0.533000	0.34776	0.525000	0.22956	0.018000	0.15052	0.491000	0.48974	TGG		0.592	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		11	78	0	0	0	0.013537	0	11	78				
WASH3P	374666	broad.mit.edu	37	15	102516424	102516424	+	RNA	SNP	G	G	T	rs201105823		TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr15:102516424G>T	ENST00000557932.1	+	0	1372				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.P449P(4)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGCCGCCACCGCAGCAGCCAC	0.647																																						ENST00000557932.1																			4	Substitution - coding silent(4)	p.P449P(4)	endometrium(3)|kidney(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														374666							g.chr15:102516424G>T			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102516424G>T														0	1372	+									RNA	SNP	ENST00000557932.1	37																																																																																						0.647	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		6	39	1	0	1.58986e-06	0.008291	1.69585e-06	6	39				
OR2L8	391190	broad.mit.edu	37	1	248112567	248112567	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:248112567C>A	ENST00000357191.3	+	1	408	c.408C>A	c.(406-408)agC>agA	p.S136R	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	136						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(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	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;0.0152)			TCCGCATGAGCAAAAGAGTGT	0.438																																						ENST00000357191.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42						c.(406-408)agC>agA		olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)							294.0	248.0	264.0					1																	248112567		2203	4300	6503	SO:0001583	missense	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112567C>A	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.408C>A	1.37:g.248112567C>A	ENSP00000349719:p.Ser136Arg					OR2L13_ENST00000366478.2_Intron	p.S136R	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	408	+	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)		136					Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	c.408C>A	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	11.46	1.645419	0.29246	.	.	ENSG00000196936	ENST00000357191	T	0.39592	1.07	1.64	-1.21	0.09524	GPCR, rhodopsin-like superfamily (1);	0.206506	0.24139	U	0.041197	T	0.24160	0.0585	L	0.33710	1.025	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.09357	-1.0678	10	0.46703	T	0.11	.	3.2743	0.06893	0.2001:0.5182:0.0:0.2816	.	136	Q8NGY9	OR2L8_HUMAN	R	136	ENSP00000349719:S136R	ENSP00000349719:S136R	S	+	3	2	OR2L8	246179190	0.000000	0.05858	0.190000	0.23270	0.760000	0.43138	-0.492000	0.06467	0.032000	0.15435	0.479000	0.44913	AGC		0.438	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			5	239	1	0	0.000602214	0.014758	0.000621641	5	239				
OR2T6	254879	broad.mit.edu	37	1	248551586	248551586	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:248551586A>C	ENST00000355728.2	+	1	677	c.677A>C	c.(676-678)cAt>cCt	p.H226P		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	226						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)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	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)			ATCACAGTGCATCAGATGACA	0.502																																						ENST00000355728.2																			0				endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(676-678)cAt>cCt		olfactory receptor, family 2, subfamily T, member 6							293.0	230.0	251.0					1																	248551586		2203	4300	6503	SO:0001583	missense	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248551586A>C	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.677A>C	1.37:g.248551586A>C	ENSP00000347965:p.His226Pro						p.H226P	NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	677	+	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)		226					A6NE36	Missense_Mutation	SNP	ENST00000355728.2	37	c.677A>C	CCDS31114.1	.	.	.	.	.	.	.	.	.	.	A	7.152	0.583953	0.13749	.	.	ENSG00000198104	ENST00000355728	T	0.00084	8.75	4.13	1.52	0.23074	GPCR, rhodopsin-like superfamily (1);	0.305751	0.23620	N	0.046245	T	0.00144	0.0004	L	0.43152	1.355	0.09310	N	1	B	0.23990	0.095	B	0.30105	0.111	T	0.32025	-0.9922	10	0.59425	D	0.04	.	3.9306	0.09283	0.5395:0.0:0.1078:0.3527	.	226	Q8NHC8	OR2T6_HUMAN	P	226	ENSP00000347965:H226P	ENSP00000347965:H226P	H	+	2	0	OR2T6	246618209	0.000000	0.05858	0.004000	0.12327	0.022000	0.10575	0.136000	0.15974	0.705000	0.31890	0.523000	0.50628	CAT		0.502	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		24	85	0	0	0	0.024334	0	24	85				
FOCAD	54914	broad.mit.edu	37	9	20881960	20881960	+	Missense_Mutation	SNP	G	G	A	rs150555461		TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr9:20881960G>A	ENST00000380249.1	+	22	2772	c.2408G>A	c.(2407-2409)cGc>cAc	p.R803H	FOCAD_ENST00000605086.1_Missense_Mutation_p.R239H|FOCAD_ENST00000338382.6_Missense_Mutation_p.R803H	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	803						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											GGAGGTGCCCGCTCAGACCAA	0.418																																						ENST00000380249.1																			0											c.(2407-2409)cGc>cAc		focadhesin		G	HIS/ARG	0,4406		0,0,2203	91.0	98.0	95.0		2408	5.8	1.0	9	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIAA1797	NM_017794.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	803/1802	20881960	1,13005	2203	4300	6503	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20881960G>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.2408G>A	9.37:g.20881960G>A	ENSP00000369599:p.Arg803His					FOCAD_ENST00000338382.6_Missense_Mutation_p.R803H|FOCAD_ENST00000605086.1_Missense_Mutation_p.R239H	p.R803H	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN			22	2772	+			803					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.2408G>A	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146517	0.77888	0.0	1.16E-4	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.08720	3.06;3.06	5.82	5.82	0.92795	Armadillo-type fold (1);	0.099890	0.64402	D	0.000002	T	0.16685	0.0401	L	0.58101	1.795	0.48571	D	0.999678	D	0.64830	0.994	P	0.50231	0.635	T	0.00050	-1.2197	10	0.59425	D	0.04	-5.9001	14.2749	0.66173	0.0707:0.0:0.9293:0.0	.	803	Q5VW36	K1797_HUMAN	H	803	ENSP00000369599:R803H;ENSP00000344307:R803H	ENSP00000344307:R803H	R	+	2	0	KIAA1797	20871960	1.000000	0.71417	0.996000	0.52242	0.763000	0.43281	4.633000	0.61318	2.759000	0.94783	0.555000	0.69702	CGC		0.418	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		5	162	0	0	0	0.021553	0	5	162				
HSP90AB1	3326	broad.mit.edu	37	6	44219502	44219502	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr6:44219502G>A	ENST00000371554.1	+	9	1557	c.1343G>A	c.(1342-1344)cGc>cAc	p.R448H	HSP90AB1_ENST00000371646.5_Missense_Mutation_p.R448H|MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000495706.1_5'Flank|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.R448H			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	448					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)	p.R448L(1)		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)			TCCACTAACCGCCGCCGCCTG	0.468																																						ENST00000371554.1																			1	Substitution - Missense(1)	p.R448L(1)	endometrium(1)	NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33						c.(1342-1344)cGc>cAc		heat shock protein 90kDa alpha (cytosolic), class B member 1							83.0	88.0	86.0					6																	44219502		2203	4300	6503	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.chr6:44219502G>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.1343G>A	6.37:g.44219502G>A	ENSP00000360609:p.Arg448His					HSP90AB1_ENST00000353801.3_Missense_Mutation_p.R448H|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.R448H	p.R448H			P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		9	1557	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		448					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP	ENST00000371554.1	37	c.1343G>A	CCDS4909.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.66|12.66	2.004676|2.004676	0.35320|0.35320	.|.	.|.	ENSG00000096384|ENSG00000096384	ENST00000435812;ENST00000415133;ENST00000428822|ENST00000371646;ENST00000353801;ENST00000371565;ENST00000371562;ENST00000371556;ENST00000371554	.|T;T;T	.|0.19669	.|2.13;2.13;2.13	4.84|4.84	3.97|3.97	0.46021|0.46021	.|Ribosomal protein S5 domain 2-type fold (1);	.|0.000000	.|0.64402	.|U	.|0.000002	T|T	0.35128|0.35128	0.0921|0.0921	M|M	0.90252|0.90252	3.1|3.1	0.80722|0.80722	D|D	1|1	.|P;P;D	.|0.60160	.|0.9;0.91;0.987	.|B;B;P	.|0.55391	.|0.257;0.362;0.775	T|T	0.49670|0.49670	-0.8915|-0.8915	5|10	.|0.87932	.|D	.|0	-9.516|-9.516	12.9045|12.9045	0.58143|0.58143	0.0806:0.0:0.9194:0.0|0.0806:0.0:0.9194:0.0	.|.	.|410;438;448	.|B4DMA2;B4DGL0;P08238	.|.;.;HS90B_HUMAN	T|H	74|448;448;86;86;86;448	.|ENSP00000360709:R448H;ENSP00000325875:R448H;ENSP00000360609:R448H	.|ENSP00000325875:R448H	A|R	+|+	1|2	0|0	HSP90AB1|HSP90AB1	44327480|44327480	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.049000|0.049000	0.14656|0.14656	8.002000|8.002000	0.88514|0.88514	1.050000|1.050000	0.40346|0.40346	-0.143000|-0.143000	0.13931|0.13931	GCC|CGC		0.468	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		10	103	0	0	0	0.008291	0	10	103				
OR7A17	26333	broad.mit.edu	37	19	14991892	14991892	+	Silent	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr19:14991892G>A	ENST00000327462.2	-	1	372	c.276C>T	c.(274-276)atC>atT	p.I92I		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	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)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					CTGCATAGGTGATGACTCTGC	0.468																																						ENST00000327462.2																			0				breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12						c.(274-276)atC>atT		olfactory receptor, family 7, subfamily A, member 17							149.0	130.0	136.0					19																	14991892		2203	4300	6503	SO:0001819	synonymous_variant	26333				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14991892G>A	X64993	CCDS12319.1	19p13.12	2012-08-09				ENSG00000185385		"""GPCR / Class A : Olfactory receptors"""	8363	protein-coding gene	gene with protein product						1370859	Standard	NM_030901		Approved	HTPCRX19	uc010xob.2	O14581		ENST00000327462.2:c.276C>T	19.37:g.14991892G>A							p.I92I	NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN			1	372	-	Ovarian(108;0.203)		92					Q6IFQ6|Q96R98	Silent	SNP	ENST00000327462.2	37	c.276C>T	CCDS12319.1																																																																																				0.468	OR7A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466523.1	NM_030901		15	77	0	0	0	0.028581	0	15	77				
UROD	7389	broad.mit.edu	37	1	45478996	45478996	+	Silent	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:45478996C>T	ENST00000246337.4	+	4	365	c.246C>T	c.(244-246)atC>atT	p.I82I	UROD_ENST00000494399.1_3'UTR|HECTD3_ENST00000372172.4_5'Flank	NM_000374.4	NP_000365.3	P06132	DCUP_HUMAN	uroporphyrinogen decarboxylase	82					heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	uroporphyrinogen decarboxylase activity (GO:0004853)			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					ATGCTGCCATCATTTTCTCCG	0.483									Porphyria Cutanea Tarda, Type II																													ENST00000246337.4																			0				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	GRCh37	HD030004	UROD	D		c.(244-246)atC>atT		uroporphyrinogen decarboxylase							157.0	151.0	153.0					1																	45478996		2203	4300	6503	SO:0001819	synonymous_variant	7389	Porphyria Cutanea Tarda, Type II	Familial Cancer Database	PCT-II		cytosol|microtubule cytoskeleton|nucleus	uroporphyrinogen decarboxylase activity	g.chr1:45478996C>T	BC001778	CCDS518.1	1p34	2012-10-02			ENSG00000126088	ENSG00000126088	4.1.1.37		12591	protein-coding gene	gene with protein product		613521				3015909, 3460962	Standard	NM_000374		Approved		uc001cna.2	P06132	OTTHUMG00000008949	ENST00000246337.4:c.246C>T	1.37:g.45478996C>T						UROD_ENST00000494399.1_3'UTR	p.I82I	NM_000374.4	NP_000365.3	P06132	DCUP_HUMAN			4	365	+	Acute lymphoblastic leukemia(166;0.155)		82					A8K762|Q16863|Q16883|Q53YB8|Q53ZP6|Q6IB28|Q9BUZ0	Silent	SNP	ENST00000246337.4	37	c.246C>T	CCDS518.1	.	.	.	.	.	.	.	.	.	.	C	9.105	1.005018	0.19199	.	.	ENSG00000126088	ENST00000428106	.	.	.	5.39	3.4	0.38934	.	.	.	.	.	T	0.41236	0.1150	.	.	.	0.80722	D	1	B	0.14012	0.009	B	0.15052	0.012	T	0.13335	-1.0513	6	.	.	.	0.6343	8.8501	0.35194	0.1523:0.7661:0.0:0.0816	.	108	B4DHV6	.	Y	76	.	.	H	+	1	0	UROD	45251583	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.841000	0.27613	0.729000	0.32403	0.655000	0.94253	CAT		0.483	UROD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024803.1	NM_000374		37	130	0	0	0	0.008740	0	37	130				
KMT2D	8085	broad.mit.edu	37	12	49434415	49434415	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr12:49434415G>A	ENST00000301067.7	-	31	7137	c.7138C>T	c.(7138-7140)Cag>Tag	p.Q2380*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2380	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)	p.Q2110*(1)|p.Q2380*(1)									AATGGGGGCTGAGCATATGGG	0.652																																						ENST00000301067.7																			2	Substitution - Nonsense(2)	p.Q2110*(1)|p.Q2380*(1)	urinary_tract(2)								c.(7138-7140)Cag>Tag		lysine (K)-specific methyltransferase 2D							26.0	31.0	29.0					12																	49434415		2037	4179	6216	SO:0001587	stop_gained	8085							g.chr12:49434415G>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.7138C>T	12.37:g.49434415G>A	ENSP00000301067:p.Gln2380*						p.Q2380*	NM_003482.3	NP_003473.3					31	7137	-								O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.7138C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	46	12.431137	0.99667	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.21	5.21	0.72293	.	0.000000	0.35466	N	0.003185	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.9117	0.88936	0.0:0.0:1.0:0.0	.	.	.	.	X	2380	.	ENSP00000301067:Q2380X	Q	-	1	0	MLL2	47720682	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	7.607000	0.82883	2.596000	0.87737	0.591000	0.81541	CAG		0.652	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			4	37	0	0	0	0.014758	0	4	37				
FUT10	84750	broad.mit.edu	37	8	33246581	33246581	+	Missense_Mutation	SNP	C	C	T	rs17855839		TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr8:33246581C>T	ENST00000327671.5	-	4	1743	c.1112G>A	c.(1111-1113)cGg>cAg	p.R371Q	FUT10_ENST00000518672.1_Missense_Mutation_p.R343Q|FUT10_ENST00000524021.1_Missense_Mutation_p.R343Q|FUT10_ENST00000335589.3_Missense_Mutation_p.R309Q|FUT10_ENST00000518076.1_5'UTR	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	371			R -> P (in dbSNP:rs17855839). {ECO:0000269|PubMed:15489334}.		embryo development (GO:0009790)|fertilization (GO:0009566)|fucosylation (GO:0036065)|hemopoiesis (GO:0030097)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein folding (GO:0006457)|protein glycosylation (GO:0006486)|protein targeting (GO:0006605)|wound healing (GO:0042060)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		TCCCCATTTCCGTTCCCTGAG	0.478																																						ENST00000327671.5																			0				cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29						c.(1111-1113)cGg>cAg		fucosyltransferase 10 (alpha (1,3) fucosyltransferase)							230.0	196.0	207.0					8																	33246581		2203	4300	6503	SO:0001583	missense	84750				embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr8:33246581C>T	AJ512465	CCDS6088.1	8p12	2013-02-26			ENSG00000172728	ENSG00000172728		"""Fucosyltransferases"""	19234	protein-coding gene	gene with protein product							Standard	NM_032664		Approved		uc003xje.3	Q6P4F1	OTTHUMG00000163954	ENST00000327671.5:c.1112G>A	8.37:g.33246581C>T	ENSP00000332757:p.Arg371Gln					FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000335589.3_Missense_Mutation_p.R309Q|FUT10_ENST00000518672.1_Missense_Mutation_p.R343Q|FUT10_ENST00000524021.1_Missense_Mutation_p.R343Q	p.R371Q	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)	4	1743	-			371		R -> P (in dbSNP:rs17855839).			A8KAC8|Q70GG3|Q8IVI6|Q8IVI7|Q8IVJ3|Q8TE43|Q9BSR3	Missense_Mutation	SNP	ENST00000327671.5	37	c.1112G>A	CCDS6088.1	.	.	.	.	.	.	.	.	.	.	C	31	5.059597	0.93846	.	.	ENSG00000172728	ENST00000327671;ENST00000380081;ENST00000518672;ENST00000524021;ENST00000335589	T;T;T;T	0.45668	0.89;0.91;0.91;1.8	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.62356	0.2421	M	0.74881	2.28	0.80722	D	1	D;D;D;D;D;P	0.69078	0.997;0.97;0.997;0.97;0.994;0.954	D;P;P;P;P;P	0.63283	0.913;0.637;0.897;0.687;0.876;0.88	T	0.64719	-0.6341	10	0.51188	T	0.08	-23.2476	16.2136	0.82186	0.0:1.0:0.0:0.0	.	421;371;343;309;371;413	B4E056;Q6P4F1-5;Q6P4F1-4;Q6P4F1-3;Q6P4F1;E7EU36	.;.;.;.;FUT10_HUMAN;.	Q	371;413;343;343;309	ENSP00000332757:R371Q;ENSP00000430428:R343Q;ENSP00000429870:R343Q;ENSP00000334997:R309Q	ENSP00000332757:R371Q	R	-	2	0	FUT10	33366123	1.000000	0.71417	0.810000	0.32431	0.968000	0.65278	7.776000	0.85560	2.493000	0.84123	0.557000	0.71058	CGG		0.478	FUT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376540.1	NM_032664		37	98	0	0	0	0.009718	0	37	98				
DNAH8	1769	broad.mit.edu	37	6	38939413	38939413	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr6:38939413G>A	ENST00000359357.3	+	81	12100	c.11846G>A	c.(11845-11847)cGa>cAa	p.R3949Q	DNAH8_ENST00000441566.1_Missense_Mutation_p.R3913Q|DNAH8_ENST00000449981.2_Missense_Mutation_p.R4166Q			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3949	AAA 6. {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						GTACATGCTCGAAAGCTGATT	0.413																																						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.(11845-11847)cGa>cAa		dynein, axonemal, heavy chain 8							159.0	130.0	140.0					6																	38939413		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38939413G>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.11846G>A	6.37:g.38939413G>A	ENSP00000352312:p.Arg3949Gln					DNAH8_ENST00000449981.2_Missense_Mutation_p.R4166Q|DNAH8_ENST00000441566.1_Missense_Mutation_p.R3913Q	p.R3949Q							81	12100	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.11846G>A		.	.	.	.	.	.	.	.	.	.	G	33	5.204383	0.95033	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.08370	3.1;3.1;3.1	5.04	5.04	0.67666	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.19087	0.0458	M	0.63208	1.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.01004	-1.1484	10	0.40728	T	0.16	.	18.407	0.90539	0.0:0.0:1.0:0.0	.	3913;3949	Q96JB1-2;Q96JB1	.;DYH8_HUMAN	Q	4154;4154;3949;3913	ENSP00000333363:R4154Q;ENSP00000352312:R3949Q;ENSP00000402294:R3913Q	ENSP00000333363:R4154Q	R	+	2	0	DNAH8	39047391	1.000000	0.71417	0.995000	0.50966	0.930000	0.56654	7.033000	0.76504	2.335000	0.79485	0.555000	0.69702	CGA		0.413	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		4	31	0	0	0	0.009096	0	4	31				
THAP9	79725	broad.mit.edu	37	4	83839313	83839313	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr4:83839313G>A	ENST00000302236.5	+	5	1999	c.1948G>A	c.(1948-1950)Gaa>Aaa	p.E650K	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	650					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)				ATTTCAAGATGAAGTTTTTCT	0.398																																						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.(1948-1950)Gaa>Aaa		THAP domain containing 9							60.0	62.0	61.0					4																	83839313		2202	4299	6501	SO:0001583	missense	79725						DNA binding|metal ion binding	g.chr4:83839313G>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.1948G>A	4.37:g.83839313G>A	ENSP00000305533:p.Glu650Lys					LIN54_ENST00000505905.1_Intron	p.E650K	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN			5	1999	+		Hepatocellular(203;0.114)	650					B3KRE2|Q59AC9	Missense_Mutation	SNP	ENST00000302236.5	37	c.1948G>A	CCDS3598.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.547459	0.00926	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	D	0.90004	-2.6	3.87	2.14	0.27477	.	0.584743	0.14852	N	0.294660	T	0.76601	0.4010	N	0.22421	0.69	0.24703	N	0.99325	B	0.06786	0.001	B	0.08055	0.003	T	0.57734	-0.7760	10	0.06757	T	0.87	-6.723	7.8515	0.29457	0.201:0.0:0.799:0.0	.	650	Q9H5L6	THAP9_HUMAN	K	650	ENSP00000305533:E650K	ENSP00000305533:E650K	E	+	1	0	THAP9	84058337	0.705000	0.27846	0.473000	0.27253	0.045000	0.14185	1.190000	0.32126	0.608000	0.30000	0.655000	0.94253	GAA		0.398	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672		6	50	0	0	0	0.021553	0	6	50				
HAUS6	54801	broad.mit.edu	37	9	19050493	19050493	+	IGR	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr9:19050493C>T	ENST00000380502.3	-	0	6536				RRAGA_ENST00000380527.1_Missense_Mutation_p.P279L	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						ATGTCAGATCCGTCGATCCCT	0.512																																						ENST00000380527.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(835-837)cCg>cTg		Ras-related GTP binding A							123.0	113.0	116.0					9																	19050493		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.chr9:19050493C>T	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.19050493C>T							p.P279L	NM_006570.4	NP_006561.1	Q7L523	RRAGA_HUMAN			1	1122	+			279					B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	c.836C>T	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.277188	0.40294	.	.	ENSG00000155876	ENST00000380527	T	0.64803	-0.12	4.89	3.97	0.46021	.	0.000000	0.85682	D	0.000000	T	0.64283	0.2584	M	0.82630	2.6	0.80722	D	1	B	0.10296	0.003	B	0.04013	0.001	T	0.65553	-0.6140	10	0.51188	T	0.08	-6.2797	12.4936	0.55914	0.1685:0.8315:0.0:0.0	.	279	Q7L523	RRAGA_HUMAN	L	279	ENSP00000369899:P279L	ENSP00000369899:P279L	P	+	2	0	RRAGA	19040493	1.000000	0.71417	0.960000	0.40013	0.859000	0.49053	7.107000	0.77047	1.403000	0.46800	0.591000	0.81541	CCG		0.512	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		8	134	0	0	0	0.004482	0	8	134				
FAT3	120114	broad.mit.edu	37	11	92624271	92624271	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr11:92624271C>T	ENST00000298047.6	+	27	13779	c.13762C>T	c.(13762-13764)Caa>Taa	p.Q4588*	FAT3_ENST00000409404.2_Nonsense_Mutation_p.Q4556*|FAT3_ENST00000533797.1_Nonsense_Mutation_p.Q891*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.Q4438*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4588					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)				GCATCAGACTCAAGTGTAGAC	0.507										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.(13762-13764)Caa>Taa		FAT atypical cadherin 3							44.0	46.0	45.0					11																	92624271		2080	4204	6284	SO:0001587	stop_gained	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92624271C>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.13762C>T	11.37:g.92624271C>T	ENSP00000298047:p.Gln4588*	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Nonsense_Mutation_p.Q4438*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.Q4556*|FAT3_ENST00000533797.1_Nonsense_Mutation_p.Q891*	p.Q4588*			Q8TDW7	FAT3_HUMAN			27	13779	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4588					B5MDB0|Q96AU6	Nonsense_Mutation	SNP	ENST00000298047.6	37	c.13762C>T		.	.	.	.	.	.	.	.	.	.	C	37	6.506146	0.97620	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.8991	0.96978	0.0:1.0:0.0:0.0	.	.	.	.	X	4588;4556;4438;891	.	ENSP00000298047:Q4588X	Q	+	1	0	FAT3	92263919	1.000000	0.71417	1.000000	0.80357	0.621000	0.37620	2.684000	0.46951	2.708000	0.92522	0.655000	0.94253	CAA		0.507	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		11	16	0	0	0	0.010729	0	11	16				
PSMC2	5701	broad.mit.edu	37	7	103007958	103007958	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr7:103007958A>G	ENST00000435765.1	+	11	1354	c.943A>G	c.(943-945)Att>Gtt	p.I315V	PSMC2_ENST00000544811.1_Missense_Mutation_p.I178V|SLC26A5_ENST00000339444.6_Intron|PSMC2_ENST00000292644.3_Missense_Mutation_p.I315V|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	315					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						TAGAGGCAATATTAAAGTGCT	0.443																																						ENST00000435765.1																			0				breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						c.(943-945)Att>Gtt		proteasome (prosome, macropain) 26S subunit, ATPase, 2							106.0	96.0	99.0					7																	103007958		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.chr7:103007958A>G	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.943A>G	7.37:g.103007958A>G	ENSP00000391211:p.Ile315Val					SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000544811.1_Missense_Mutation_p.I178V|SLC26A5_ENST00000339444.6_Intron|PSMC2_ENST00000292644.3_Missense_Mutation_p.I315V	p.I315V	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN			11	1354	+			315					A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Missense_Mutation	SNP	ENST00000435765.1	37	c.943A>G	CCDS5731.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.982920	0.74474	.	.	ENSG00000161057	ENST00000435765;ENST00000292644;ENST00000544811	D;D;D	0.91124	-2.79;-2.79;-2.79	5.24	5.24	0.73138	ATPase, AAA-type, conserved site (1);ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.89086	0.6615	N	0.04994	-0.135	0.80722	D	1	D	0.54397	0.966	D	0.73380	0.98	D	0.90094	0.4179	10	0.36615	T	0.2	-21.8559	15.1858	0.72999	1.0:0.0:0.0:0.0	.	315	P35998	PRS7_HUMAN	V	315;315;178	ENSP00000391211:I315V;ENSP00000292644:I315V;ENSP00000445546:I178V	ENSP00000292644:I315V	I	+	1	0	PSMC2	102795194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.420000	0.80191	1.992000	0.58205	0.529000	0.55759	ATT		0.443	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347922.1	NM_002803		59	39	0	0	0	0.014410	0	59	39				
PDE3A	5139	broad.mit.edu	37	12	20799470	20799470	+	Silent	SNP	T	T	C			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr12:20799470T>C	ENST00000359062.3	+	11	2338	c.2298T>C	c.(2296-2298)taT>taC	p.Y766Y	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	766	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)	CTGTTTGGTATCTTACTACAC	0.413																																						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.(2296-2298)taT>taC		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						198.0	166.0	177.0					12																	20799470		2203	4300	6503	SO:0001819	synonymous_variant	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.chr12:20799470T>C		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.2298T>C	12.37:g.20799470T>C						PDE3A_ENST00000544307.1_3'UTR	p.Y766Y	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			11	2338	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	766			Catalytic (By similarity).		O60865|Q13348|Q17RD1	Silent	SNP	ENST00000359062.3	37	c.2298T>C	CCDS31754.1																																																																																				0.413	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			12	51	0	0	0	0.016723	0	12	51				
LRPAP1	4043	broad.mit.edu	37	4	3520617	3520617	+	Silent	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr4:3520617C>T	ENST00000500728.2	-	4	719	c.573G>A	c.(571-573)gaG>gaA	p.E191E	LRPAP1_ENST00000296325.5_5'UTR	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	191					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)		TGCTCAGGGTCTCCAGCAGGA	0.637																																						ENST00000500728.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14						c.(571-573)gaG>gaA		low density lipoprotein receptor-related protein associated protein 1							34.0	34.0	34.0					4																	3520617		2203	4300	6503	SO:0001819	synonymous_variant	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.chr4:3520617C>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.573G>A	4.37:g.3520617C>T						LRPAP1_ENST00000296325.5_5'UTR	p.E191E	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.165)	4	719	-			191					D3DVR9|Q2M310|Q53HQ3|Q53HS6	Silent	SNP	ENST00000500728.2	37	c.573G>A	CCDS3371.1																																																																																				0.637	LRPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206659.4			3	9	0	0	0	0.004672	0	3	9				
ANKRD36	375248	broad.mit.edu	37	2	97866192	97866192	+	Silent	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:97866192C>T	ENST00000461153.2	+	46	3031	c.2787C>T	c.(2785-2787)gcC>gcT	p.A929A	ANKRD36_ENST00000420699.2_Silent_p.A929A			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	929										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CCATTCAGGCCACAAGTGATG	0.333																																						ENST00000420699.2																			0				endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(2785-2787)gcC>gcT		ankyrin repeat domain 36							147.0	143.0	144.0					2																	97866192		692	1591	2283	SO:0001819	synonymous_variant	375248							g.chr2:97866192C>T	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2787C>T	2.37:g.97866192C>T						ANKRD36_ENST00000461153.2_Silent_p.A929A	p.A929A	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			46	3031	+			929					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Silent	SNP	ENST00000461153.2	37	c.2787C>T	CCDS54379.1																																																																																				0.333	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			4	36	0	0	0	0.009096	0	4	36				
NTM	50863	broad.mit.edu	37	11	132081943	132081943	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr11:132081943C>G	ENST00000374786.1	+	3	907	c.428C>G	c.(427-429)tCa>tGa	p.S143*	NTM_ENST00000374784.1_Nonsense_Mutation_p.S143*|NTM_ENST00000425719.2_Nonsense_Mutation_p.S143*|NTM_ENST00000427481.2_Nonsense_Mutation_p.S134*|NTM_ENST00000539799.1_Nonsense_Mutation_p.S143*|NTM_ENST00000374791.3_Nonsense_Mutation_p.S143*|NTM_ENST00000474900.1_3'UTR	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	143	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GAGATTTCTTCAGATATCTCC	0.393																																						ENST00000374786.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						c.(427-429)tCa>tGa		neurotrimin							81.0	81.0	81.0					11																	132081943		2201	4297	6498	SO:0001587	stop_gained	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132081943C>G	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.428C>G	11.37:g.132081943C>G	ENSP00000363918:p.Ser143*					NTM_ENST00000474900.1_3'UTR|NTM_ENST00000427481.2_Nonsense_Mutation_p.S134*|NTM_ENST00000539799.1_Nonsense_Mutation_p.S143*|NTM_ENST00000425719.2_Nonsense_Mutation_p.S143*|NTM_ENST00000374784.1_Nonsense_Mutation_p.S143*|NTM_ENST00000374791.3_Nonsense_Mutation_p.S143*	p.S143*	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN			3	907	+			143			Ig-like C2-type 2.		A0MTT2|Q6UXJ3|Q86VJ9	Nonsense_Mutation	SNP	ENST00000374786.1	37	c.428C>G	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	C	38	6.987552	0.97983	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	.	.	.	5.87	4.96	0.65561	.	0.260506	0.37809	N	0.001934	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-9.2338	17.3884	0.87423	0.0:0.8752:0.1248:0.0	.	.	.	.	X	143;143;134;134;143;143;143	.	ENSP00000363916:S143X	S	+	2	0	NTM	131587153	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.177000	0.58276	1.612000	0.50221	0.655000	0.94253	TCA		0.393	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		7	59	0	0	0	0.001984	0	7	59				
CXCL10	3627	broad.mit.edu	37	4	76943923	76943923	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr4:76943923T>G	ENST00000306602.1	-	2	174	c.109A>C	c.(109-111)Aat>Cat	p.N37H	ART3_ENST00000341029.5_Intron	NM_001565.3	NP_001556.2	P02778	CXL10_HUMAN	chemokine (C-X-C motif) ligand 10	37					blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to heat (GO:0034605)|cellular response to lipopolysaccharide (GO:0071222)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|defense response to virus (GO:0051607)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|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 leukocyte chemotaxis (GO:0002690)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell migration (GO:2000406)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein secretion (GO:0009306)|regulation of cell proliferation (GO:0042127)|regulation of protein kinase activity (GO:0045859)|response to auditory stimulus (GO:0010996)|response to cold (GO:0009409)|response to gamma radiation (GO:0010332)|response to vitamin D (GO:0033280)|signal transduction (GO:0007165)|T cell chemotaxis (GO:0010818)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cAMP-dependent protein kinase regulator activity (GO:0008603)|chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			kidney(1)|large_intestine(1)|lung(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ACAGGTTGATTACTAATGCTG	0.408																																						ENST00000306602.1																			0				kidney(1)|large_intestine(1)|lung(1)	3						c.(109-111)Aat>Cat		chemokine (C-X-C motif) ligand 10							138.0	126.0	130.0					4																	76943923		1913	4125	6038	SO:0001583	missense	3627				blood circulation|cell surface receptor linked signaling pathway|cell-cell signaling|chemotaxis|inflammatory response|muscle organ development|positive regulation of cell proliferation	extracellular space	cAMP-dependent protein kinase regulator activity|chemokine activity	g.chr4:76943923T>G	X02530	CCDS43240.1	4q21	2013-02-25	2002-08-22	2002-08-23		ENSG00000169245		"""Endogenous ligands"""	10637	protein-coding gene	gene with protein product		147310	"""small inducible cytokine subfamily B (Cys-X-Cys), member 10"""	INP10, SCYB10		2437586, 3925348	Standard	NM_001565		Approved	IFI10, IP-10, crg-2, mob-1, C7, gIP-10	uc003hjl.4	P02778		ENST00000306602.1:c.109A>C	4.37:g.76943923T>G	ENSP00000305651:p.Asn37His					ART3_ENST00000341029.5_Intron	p.N37H	NM_001565.3	NP_001556.2	P02778	CXL10_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		2	174	-			37					Q96QJ5	Missense_Mutation	SNP	ENST00000306602.1	37	c.109A>C	CCDS43240.1	.	.	.	.	.	.	.	.	.	.	T	14.22	2.469374	0.43839	.	.	ENSG00000169245	ENST00000306602	T	0.04862	3.54	4.93	-1.81	0.07882	CXC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	1.241970	0.05296	N	0.521999	T	0.11537	0.0281	.	.	.	0.09310	N	1	P	0.42941	0.794	P	0.49140	0.601	T	0.39231	-0.9624	9	0.49607	T	0.09	-27.9384	9.3659	0.38223	0.0:0.37:0.0:0.63	.	37	P02778	CXL10_HUMAN	H	37	ENSP00000305651:N37H	ENSP00000305651:N37H	N	-	1	0	CXCL10	77162947	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.592000	0.05747	-0.649000	0.05430	0.383000	0.25322	AAT		0.408	CXCL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362817.1			4	81	0	0	0	0.014758	0	4	81				
COPS4	51138	broad.mit.edu	37	4	83989672	83989672	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr4:83989672G>A	ENST00000264389.2	+	9	1219	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	COPS4_ENST00000503682.1_Missense_Mutation_p.E394K|COPS4_ENST00000509093.1_Intron|COPS4_ENST00000511653.1_Missense_Mutation_p.E362K	NM_016129.2	NP_057213.2	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	362	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)				AGTTCATTTTGAAAGTAAGAG	0.333																																						ENST00000264389.2																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13						c.(1084-1086)Gaa>Aaa		COP9 signalosome subunit 4							116.0	115.0	116.0					4																	83989672		2203	4297	6500	SO:0001583	missense	51138				cullin deneddylation	cytoplasm|signalosome	protein binding	g.chr4:83989672G>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.1084G>A	4.37:g.83989672G>A	ENSP00000264389:p.Glu362Lys					COPS4_ENST00000511653.1_Missense_Mutation_p.E362K|COPS4_ENST00000503682.1_Missense_Mutation_p.E394K|COPS4_ENST00000509093.1_Intron	p.E362K	NM_016129.2	NP_057213.2	Q9BT78	CSN4_HUMAN			9	1219	+		Hepatocellular(203;0.114)	362			PCI.		B3KN88|B3KST5|Q561W7|Q9NW31|Q9Y677	Missense_Mutation	SNP	ENST00000264389.2	37	c.1084G>A	CCDS3600.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529085	0.85706	.	.	ENSG00000138663	ENST00000264389;ENST00000509317;ENST00000503682;ENST00000511653	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.83	5.83	0.93111	Winged helix-turn-helix transcription repressor DNA-binding (1);Proteasome component (PCI) domain (2);	0.000000	0.85682	D	0.000000	T	0.35941	0.0949	L	0.58354	1.805	0.80722	D	1	B;B;B	0.29552	0.178;0.248;0.09	B;B;B	0.31390	0.129;0.079;0.078	T	0.05835	-1.0861	10	0.35671	T	0.21	-18.763	19.0981	0.93263	0.0:0.0:1.0:0.0	.	394;362;362	D6RFN0;D6RAX7;Q9BT78	.;.;CSN4_HUMAN	K	362;250;394;362	ENSP00000264389:E362K;ENSP00000425486:E250K;ENSP00000424791:E394K;ENSP00000424655:E362K	ENSP00000264389:E362K	E	+	1	0	COPS4	84208696	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.353000	0.97080	2.753000	0.94483	0.585000	0.79938	GAA		0.333	COPS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252643.1			5	44	0	0	0	0.001984	0	5	44				
ZMYM4	9202	broad.mit.edu	37	1	35859302	35859302	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:35859302C>T	ENST00000314607.6	+	18	2953	c.2873C>T	c.(2872-2874)tCt>tTt	p.S958F	ZMYM4_ENST00000373297.2_Missense_Mutation_p.S869F	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	958					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)				AAAGCCACCTCTTGCAAACCA	0.398																																						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.(2872-2874)tCt>tTt		zinc finger, MYM-type 4							121.0	109.0	113.0					1																	35859302		2203	4300	6503	SO:0001583	missense	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35859302C>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.2873C>T	1.37:g.35859302C>T	ENSP00000322915:p.Ser958Phe					ZMYM4_ENST00000373297.2_Missense_Mutation_p.S869F	p.S958F	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN			18	2953	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	958					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	ENST00000314607.6	37	c.2873C>T	CCDS389.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.824380	0.71143	.	.	ENSG00000146463	ENST00000314607;ENST00000373297	T;T	0.28255	1.64;1.62	5.28	5.28	0.74379	.	0.057040	0.64402	D	0.000001	T	0.41003	0.1140	M	0.67397	2.05	0.51767	D	0.999933	B	0.28998	0.23	B	0.34590	0.186	T	0.36696	-0.9737	10	0.62326	D	0.03	-11.1525	19.2728	0.94018	0.0:1.0:0.0:0.0	.	958	Q5VZL5	ZMYM4_HUMAN	F	958;869	ENSP00000322915:S958F;ENSP00000362394:S869F	ENSP00000322915:S958F	S	+	2	0	ZMYM4	35631889	1.000000	0.71417	0.987000	0.45799	0.990000	0.78478	3.810000	0.55613	2.651000	0.90000	0.585000	0.79938	TCT		0.398	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		11	88	0	0	0	0.013537	0	11	88				
MS4A4A	51338	broad.mit.edu	37	11	60059779	60059779	+	Silent	SNP	A	A	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr11:60059779A>T	ENST00000337908.4	+	2	213	c.123A>T	c.(121-123)ggA>ggT	p.G41G	MS4A4A_ENST00000395016.3_Silent_p.G22G|MS4A4A_ENST00000532114.1_Silent_p.G41G|MS4A4A_ENST00000355131.3_Silent_p.G22G	NM_148975.2	NP_683876.1	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	41						integral component of membrane (GO:0016021)		p.G41G(1)|p.G22G(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						CCCAGCTGGGAAACATGGCTG	0.488																																						ENST00000355131.3																			2	Substitution - coding silent(2)	p.G41G(1)|p.G22G(1)	lung(2)	autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						c.(64-66)ggA>ggT		membrane-spanning 4-domains, subfamily A, member 4A							73.0	72.0	73.0					11																	60059779		2203	4300	6503	SO:0001819	synonymous_variant	51338					integral to membrane	receptor activity	g.chr11:60059779A>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.123A>T	11.37:g.60059779A>T						MS4A4A_ENST00000532114.1_Silent_p.G41G|MS4A4A_ENST00000337908.4_Silent_p.G41G|MS4A4A_ENST00000395016.3_Silent_p.G22G	p.G22G	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN			3	289	+			41					Q8TEZ6|Q96PG7|Q9BY18|Q9H3V3|Q9P1S3	Silent	SNP	ENST00000337908.4	37	c.66A>T	CCDS7982.1																																																																																				0.488	MS4A4A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337774.2			12	64	0	0	0	0.016723	0	12	64				
KRTAP5-10	387273	broad.mit.edu	37	11	71277239	71277239	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr11:71277239C>G	ENST00000398531.1	+	1	631	c.606C>G	c.(604-606)atC>atG	p.I202M	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	202						keratin filament (GO:0045095)				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						AGTGTAAGATCTGAGGCTCTG	0.542																																						ENST00000398531.1																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(604-606)atC>atG		keratin associated protein 5-10							93.0	95.0	94.0					11																	71277239		2200	4293	6493	SO:0001583	missense	387273					keratin filament		g.chr11:71277239C>G	AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"""Keratin associated proteins"""	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.606C>G	11.37:g.71277239C>G	ENSP00000381542:p.Ile202Met					KRTAP5-10_ENST00000376536.4_Intron	p.I202M	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN			1	631	+			202					B9EHA4	Missense_Mutation	SNP	ENST00000398531.1	37	c.606C>G	CCDS41684.1	.	.	.	.	.	.	.	.	.	.	.	10.07	1.248411	0.22880	.	.	ENSG00000204572	ENST00000398531	T	0.01159	5.25	1.69	1.69	0.24217	.	.	.	.	.	T	0.01800	0.0057	M	0.80982	2.52	0.18873	N	0.999984	P	0.34699	0.464	B	0.21546	0.035	T	0.36672	-0.9738	9	0.87932	D	0	.	6.8094	0.23796	0.0:1.0:0.0:0.0	.	202	Q6L8G5	KR510_HUMAN	M	202	ENSP00000381542:I202M	ENSP00000381542:I202M	I	+	3	3	KRTAP5-10	70954887	0.799000	0.28903	0.766000	0.31476	0.168000	0.22595	0.475000	0.22164	1.250000	0.43966	0.397000	0.26171	ATC		0.542	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			86	136	0	0	0	0.014410	0	86	136				
FAM98A	25940	broad.mit.edu	37	2	33810258	33810258	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:33810258C>T	ENST00000238823.8	-	8	1282	c.1142G>A	c.(1141-1143)gGa>gAa	p.G381E	FAM98A_ENST00000441530.2_Missense_Mutation_p.G186E|FAM98A_ENST00000498340.1_5'Flank|FAM98A_ENST00000403368.1_3'UTR			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	382	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)					TGTCCAGCCTCCTTGATGCTT	0.577																																						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.(1141-1143)gGa>gAa		family with sequence similarity 98, member A							256.0	212.0	227.0					2																	33810258		2203	4300	6503	SO:0001583	missense	25940							g.chr2:33810258C>T		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.1142G>A	2.37:g.33810258C>T	ENSP00000238823:p.Gly381Glu					FAM98A_ENST00000441530.2_Missense_Mutation_p.G186E|FAM98A_ENST00000403368.1_3'UTR	p.G381E			Q8NCA5	FA98A_HUMAN			8	1282	-	all_hematologic(175;0.115)		382			Gly-rich.		B2RNA2|Q9Y3Y6	Missense_Mutation	SNP	ENST00000238823.8	37	c.1142G>A	CCDS33179.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109165	0.56398	.	.	ENSG00000119812	ENST00000238823;ENST00000395190;ENST00000441530	T;D	0.91407	0.73;-2.84	5.56	5.56	0.83823	.	0.119767	0.56097	D	0.000035	D	0.90061	0.6896	N	0.08118	0	0.80722	D	1	D;D;D;D	0.71674	0.997;0.997;0.998;0.997	P;P;D;P	0.66351	0.878;0.878;0.943;0.878	D	0.92152	0.5729	10	0.56958	D	0.05	-10.0029	19.5324	0.95234	0.0:1.0:0.0:0.0	.	382;212;381;219	Q8NCA5;B4DY25;Q8NCA5-2;B3KTW4	FA98A_HUMAN;.;.;.	E	381;382;186	ENSP00000238823:G381E;ENSP00000408716:G186E	ENSP00000238823:G381E	G	-	2	0	FAM98A	33663762	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.212000	0.77941	2.617000	0.88574	0.491000	0.48974	GGA		0.577	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325457.2	NM_015475		6	97	0	0	0	0.021553	0	6	97				
LAMP5	24141	broad.mit.edu	37	20	9496129	9496129	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr20:9496129G>A	ENST00000246070.2	+	2	586	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K	RP5-1119D9.4_ENST00000443469.1_RNA|LAMP5_ENST00000427562.2_Missense_Mutation_p.E32K	NM_012261.3	NP_036393.1	Q9UJQ1	LAMP5_HUMAN	lysosomal-associated membrane protein family, member 5	32						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)											GGCAGAACAAGAAGTGGAAAA	0.498																																						ENST00000246070.2																			0											c.(94-96)Gaa>Aaa		lysosomal-associated membrane protein family, member 5							101.0	99.0	100.0					20																	9496129		2203	4300	6503	SO:0001583	missense	24141					integral to membrane		g.chr20:9496129G>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.94G>A	20.37:g.9496129G>A	ENSP00000246070:p.Glu32Lys					LAMP5_ENST00000427562.2_Missense_Mutation_p.E32K	p.E32K	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN			2	586	+			32					B4DHZ7|B7Z9Z9	Missense_Mutation	SNP	ENST00000246070.2	37	c.94G>A	CCDS13106.1	.	.	.	.	.	.	.	.	.	.	G	34	5.390371	0.95988	.	.	ENSG00000125869	ENST00000246070;ENST00000427562	T;T	0.63417	0.79;-0.04	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.71005	0.3289	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.83275	0.994;0.996	T	0.67593	-0.5631	9	.	.	.	-18.5024	19.7362	0.96205	0.0:0.0:1.0:0.0	.	32;32	Q9UJQ1-2;Q9UJQ1	.;CT103_HUMAN	K	32	ENSP00000246070:E32K;ENSP00000406360:E32K	.	E	+	1	0	C20orf103	9444129	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.392000	0.97252	2.678000	0.91216	0.655000	0.94253	GAA		0.498	LAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077946.2	NM_012261		8	44	0	0	0	0.008291	0	8	44				
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	89								p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I89V(4)	prostate(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(265-267)Att>Gtt																																						SO:0001583	missense	284802							g.chr20:29628263A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.265A>G	20.37:g.29628263A>G	ENSP00000278882:p.Ile89Val					FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V	p.I89V							6	645	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.265A>G		.	.	.	.	.	.	.	.	.	.	a	8.196	0.797144	0.16327	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.44482	0.92	2.08	2.08	0.27032	Actin cross-linking (1);	0.052017	0.85682	D	0.000000	T	0.22666	0.0547	.	.	.	0.33862	D	0.633895	B;B	0.06786	0.0;0.001	B;B	0.20767	0.018;0.031	T	0.12041	-1.0563	9	0.22706	T	0.39	.	3.8663	0.09018	0.8139:0.0:0.1861:0.0	.	94;89	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	V	89;94;89	ENSP00000408863:I94V	ENSP00000278882:I89V	I	+	1	0	FRG1B	28241924	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.345000	0.59360	1.208000	0.43306	0.347000	0.21830	ATT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	61	0	0	0	0.004482	0	7	61				
KIF21A	55605	broad.mit.edu	37	12	39726145	39726145	+	Silent	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr12:39726145C>T	ENST00000361418.5	-	21	2937	c.2922G>A	c.(2920-2922)gaG>gaA	p.E974E	KIF21A_ENST00000544797.2_Silent_p.E961E|KIF21A_ENST00000395670.3_Silent_p.E974E|KIF21A_ENST00000361961.3_Silent_p.E961E|KIF21A_ENST00000541463.2_Silent_p.E938E			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	974					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)				CCTCTCCATTCTCCTTGACTA	0.373																																						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.(2920-2922)gaG>gaA		kinesin family member 21A							222.0	205.0	211.0					12																	39726145		2203	4300	6503	SO:0001819	synonymous_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39726145C>T	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.2922G>A	12.37:g.39726145C>T						KIF21A_ENST00000361418.5_Silent_p.E974E|KIF21A_ENST00000541463.2_Silent_p.E938E|KIF21A_ENST00000544797.2_Silent_p.E961E|KIF21A_ENST00000361961.3_Silent_p.E961E	p.E974E			Q7Z4S6	KI21A_HUMAN			21	3341	-		Lung NSC(34;0.179)|all_lung(34;0.213)	974					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	c.2922G>A	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	C	7.153	0.584206	0.13749	.	.	ENSG00000139116	ENST00000552961	.	.	.	5.67	2.73	0.32206	.	.	.	.	.	T	0.53546	0.1803	.	.	.	0.58432	D	0.999994	.	.	.	.	.	.	T	0.49204	-0.8964	4	.	.	.	.	5.9708	0.19351	0.1318:0.608:0.0:0.2603	.	.	.	.	K	322	.	.	R	-	2	0	KIF21A	38012412	0.239000	0.23836	0.960000	0.40013	0.975000	0.68041	0.118000	0.15605	1.393000	0.46605	0.557000	0.71058	AGA		0.373	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		12	149	0	0	0	0.013537	0	12	149				
USP30	84749	broad.mit.edu	37	12	109522853	109522853	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr12:109522853C>T	ENST00000257548.5	+	12	1357	c.1264C>T	c.(1264-1266)Cct>Tct	p.P422S	USP30_ENST00000392784.2_Missense_Mutation_p.P391S	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	422	USP.				mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						GATGCCCTTCCCTCTCCCAGT	0.502																																						ENST00000257548.5																			0				endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						c.(1264-1266)Cct>Tct		ubiquitin specific peptidase 30							187.0	202.0	197.0					12																	109522853		2203	4300	6503	SO:0001583	missense	84749				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr12:109522853C>T	BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"""Ubiquitin-specific peptidases"""	20065	protein-coding gene	gene with protein product		612492	"""ubiquitin specific protease 30"""			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.1264C>T	12.37:g.109522853C>T	ENSP00000257548:p.Pro422Ser					USP30_ENST00000392784.2_Missense_Mutation_p.P391S	p.P422S	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN			12	1357	+			422					Q8WTU7|Q96JX4|Q9BSS3	Missense_Mutation	SNP	ENST00000257548.5	37	c.1264C>T	CCDS9123.2	.	.	.	.	.	.	.	.	.	.	C	1.977	-0.435103	0.04669	.	.	ENSG00000135093	ENST00000392784;ENST00000257548	T;T	0.73363	-0.74;-0.74	5.5	3.38	0.38709	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.278962	0.40469	N	0.001092	T	0.49592	0.1566	N	0.20845	0.615	0.36907	D	0.890722	B;B	0.16166	0.003;0.016	B;B	0.19946	0.008;0.027	T	0.44757	-0.9307	10	0.02654	T	1	-8.5464	4.3941	0.11355	0.0:0.6214:0.237:0.1417	.	422;391	Q70CQ3;B3KUS5	UBP30_HUMAN;.	S	391;422	ENSP00000376535:P391S;ENSP00000257548:P422S	ENSP00000257548:P422S	P	+	1	0	USP30	108007236	0.805000	0.28982	0.684000	0.30055	0.071000	0.16799	0.829000	0.27449	1.274000	0.44362	0.650000	0.86243	CCT		0.502	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257733.2	NM_032663		29	283	0	0	0	0.008361	0	29	283				
ADRBK1	156	broad.mit.edu	37	11	67052618	67052618	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr11:67052618C>T	ENST00000308595.5	+	20	2154	c.1864C>T	c.(1864-1866)Ctc>Ttc	p.L622F	ADRBK1_ENST00000526285.1_Intron	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	622	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)	GTGCCTGCTCCTCAAGATCCG	0.647																																						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.(1864-1866)Ctc>Ttc		adrenergic, beta, receptor kinase 1	Adenosine triphosphate(DB00171)						208.0	176.0	187.0					11																	67052618		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.chr11:67052618C>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.1864C>T	11.37:g.67052618C>T	ENSP00000312262:p.Leu622Phe					ADRBK1_ENST00000526285.1_Intron	p.L622F	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		20	2154	+			622			PH.		B0ZBE1|Q13837|Q6GTT3	Missense_Mutation	SNP	ENST00000308595.5	37	c.1864C>T	CCDS8156.1	.	.	.	.	.	.	.	.	.	.	C	9.394	1.076177	0.20227	.	.	ENSG00000173020	ENST00000308595	T	0.78924	-1.22	4.9	2.89	0.33648	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.41194	D	0.000937	T	0.79452	0.4448	L	0.53249	1.67	0.80722	D	1	D	0.54772	0.968	P	0.56088	0.791	T	0.77723	-0.2481	10	0.41790	T	0.15	-21.8691	9.7465	0.40451	0.0:0.7799:0.141:0.0791	.	622	P25098	ARBK1_HUMAN	F	622	ENSP00000312262:L622F	ENSP00000312262:L622F	L	+	1	0	ADRBK1	66809194	1.000000	0.71417	0.993000	0.49108	0.003000	0.03518	5.104000	0.64584	1.201000	0.43203	-0.229000	0.12294	CTC		0.647	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	NM_001619		21	303	0	0	0	0.012319	0	21	303				
PPP1R12B	4660	broad.mit.edu	37	1	202464747	202464747	+	Silent	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:202464747C>T	ENST00000608999.1	+	17	2538	c.2385C>T	c.(2383-2385)atC>atT	p.I795I	PPP1R12B_ENST00000391959.3_Silent_p.I21I|PPP1R12B_ENST00000290419.5_3'UTR|PPP1R12B_ENST00000367270.4_Silent_p.I21I|PPP1R12B_ENST00000336894.4_Silent_p.I795I	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	795					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			GGCTGTCCATCCGAGAGAGGA	0.463																																						ENST00000406302.3																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41						c.(2383-2385)atC>atT		protein phosphatase 1, regulatory subunit 12B							88.0	89.0	89.0					1																	202464747		2203	4300	6503	SO:0001819	synonymous_variant	4660				regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	g.chr1:202464747C>T	AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.2385C>T	1.37:g.202464747C>T						PPP1R12B_ENST00000391959.3_Silent_p.I21I|PPP1R12B_ENST00000336894.4_Silent_p.I795I|PPP1R12B_ENST00000367270.4_Silent_p.I21I|PPP1R12B_ENST00000290419.5_3'UTR	p.I795I	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		17	2538	+			795					A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Silent	SNP	ENST00000608999.1	37	c.2385C>T	CCDS1426.1																																																																																				0.463	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105		7	48	0	0	0	0.001984	0	7	48				
POLI	11201	broad.mit.edu	37	18	51820401	51820401	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr18:51820401C>T	ENST00000579534.1	+	10	1930	c.1787C>T	c.(1786-1788)tCt>tTt	p.S596F	POLI_ENST00000406285.3_Missense_Mutation_p.S517F|POLI_ENST00000217800.5_Missense_Mutation_p.S470F|POLI_ENST00000579434.1_Missense_Mutation_p.S493F	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	596	Ser-rich.				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)		CAGGTATCCTCTGTATCTCCT	0.338								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.(1786-1788)tCt>tTt	DNA polymerases (catalytic subunits)	polymerase (DNA directed) iota							75.0	77.0	76.0					18																	51820401		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.chr18:51820401C>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.1787C>T	18.37:g.51820401C>T	ENSP00000462664:p.Ser596Phe					POLI_ENST00000217800.5_Missense_Mutation_p.S470F|POLI_ENST00000406285.3_Missense_Mutation_p.S517F|POLI_ENST00000579434.1_Missense_Mutation_p.S493F	p.S596F	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN		Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)	10	1930	+			596			Ser-rich.		Q8N590|Q9H0S1|Q9NYH6	Missense_Mutation	SNP	ENST00000579534.1	37	c.1787C>T	CCDS11954.2	.	.	.	.	.	.	.	.	.	.	C	4.891	0.165554	0.09339	.	.	ENSG00000101751	ENST00000406285;ENST00000217800	T	0.53640	0.61	5.41	4.54	0.55810	.	0.974151	0.08466	N	0.941736	T	0.49745	0.1575	M	0.62723	1.935	0.09310	N	1	P;P	0.49961	0.93;0.93	P;P	0.44732	0.459;0.459	T	0.38415	-0.9662	10	0.46703	T	0.11	-6.4676	8.6298	0.33913	0.0:0.8245:0.0:0.1755	.	516;596	B7Z780;Q9UNA4	.;POLI_HUMAN	F	517;596	ENSP00000385196:S517F	ENSP00000217800:S596F	S	+	2	0	POLI	50074399	0.001000	0.12720	0.192000	0.23308	0.536000	0.34869	0.905000	0.28504	1.398000	0.46701	0.655000	0.94253	TCT		0.338	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195		20	56	0	0	0	0.016522	0	20	56				
TNS4	84951	broad.mit.edu	37	17	38638646	38638646	+	Silent	SNP	G	G	T	rs147623676	byFrequency	TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr17:38638646G>T	ENST00000254051.6	-	7	1682	c.1524C>A	c.(1522-1524)atC>atA	p.I508I		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	508	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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)			GGAAGTGTCGGATGAGGTCAT	0.572																																						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.(1522-1524)atC>atA		tensin 4							94.0	88.0	90.0					17																	38638646		2203	4300	6503	SO:0001819	synonymous_variant	84951				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr17:38638646G>T	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.1524C>A	17.37:g.38638646G>T							p.I508I	NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		7	1682	-		Breast(137;0.000496)	508			SH2.		A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Silent	SNP	ENST00000254051.6	37	c.1524C>A	CCDS11368.1																																																																																				0.572	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3	NM_032865		11	59	1	0	7.03913e-09	0.013537	7.63566e-09	11	59				
NRXN1	9378	broad.mit.edu	37	2	50280535	50280535	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:50280535C>T	ENST00000406316.2	-	20	5388	c.3912G>A	c.(3910-3912)atG>atA	p.M1304I	NRXN1_ENST00000401669.2_Missense_Mutation_p.M1334I|NRXN1_ENST00000402717.3_Missense_Mutation_p.M1326I|NRXN1_ENST00000405472.3_Missense_Mutation_p.M1326I|NRXN1_ENST00000401710.1_Missense_Mutation_p.M322I|NRXN1_ENST00000404971.1_Missense_Mutation_p.M1374I|NRXN1_ENST00000342183.5_Missense_Mutation_p.M269I|NRXN1_ENST00000406859.3_Missense_Mutation_p.M1304I	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1304					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)			ACTCAGTTGTCATAGAGGAAG	0.483																																						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.(4120-4122)atG>atA		neurexin 1							158.0	136.0	143.0					2																	50280535		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.chr2:50280535C>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.3912G>A	2.37:g.50280535C>T	ENSP00000384311:p.Met1304Ile					NRXN1_ENST00000402717.3_Missense_Mutation_p.M1326I|NRXN1_ENST00000401710.1_Missense_Mutation_p.M322I|NRXN1_ENST00000405472.3_Missense_Mutation_p.M1326I|NRXN1_ENST00000342183.5_Missense_Mutation_p.M269I|NRXN1_ENST00000401669.2_Missense_Mutation_p.M1334I|NRXN1_ENST00000406859.3_Missense_Mutation_p.M1304I|NRXN1_ENST00000406316.2_Missense_Mutation_p.M1304I	p.M1374I	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		22	5461	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	1304	Missing (in Ref. 2; BAA25504).				A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.4122G>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.279638	0.40294	.	.	ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T;T;T	0.69175	1.15;2.32;0.33;0.33;-0.38;-0.27;0.02;0.19	5.65	5.65	0.86999	.	0.627678	0.12932	U	0.427304	T	0.42607	0.1210	N	0.01048	-1.04	0.33261	D	0.559734	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.002;0.001;0.001	T	0.45131	-0.9282	10	0.27785	T	0.31	.	19.7195	0.96136	0.0:1.0:0.0:0.0	.	1374;269;1304;1326	Q9ULB1-3;P58400;F8WB18;A7E294	.;NRX1B_HUMAN;.;.	I	269;223;322;1374;1304;1326;1334;1375;1326;1304	ENSP00000341184:M269I;ENSP00000385580:M322I;ENSP00000385142:M1374I;ENSP00000384311:M1304I;ENSP00000434015:M1326I;ENSP00000385017:M1334I;ENSP00000385434:M1326I;ENSP00000385681:M1304I	ENSP00000341184:M269I	M	-	3	0	NRXN1	50134039	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.230000	0.65321	2.663000	0.90544	0.655000	0.94253	ATG		0.483	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			11	102	0	0	0	0.010729	0	11	102				
IGLV5-52	28779	broad.mit.edu	37	22	22673302	22673302	+	RNA	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr22:22673302C>T	ENST00000390289.2	+	0	100				BMS1P20_ENST00000426066.1_RNA					immunoglobulin lambda variable 5-52																		CATTCTGCATCTTCTGGAGCA	0.527																																						ENST00000390289.2																			0																				196.0	198.0	197.0					22																	22673302		2102	4225	6327			28779							g.chr22:22673302C>T	Z73669		22q11.2	2012-02-08			ENSG00000211643	ENSG00000211643		"""Immunoglobulins / IGL locus"""	5926	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151049		22.37:g.22673302C>T						LL22NC03-80A10.6_ENST00000426066.1_RNA								0	100	+									RNA	SNP	ENST00000390289.2	37																																																																																						0.527	IGLV5-52-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321109.1	NG_000002		27	198	0	0	0	0.010818	0	27	198				
RABEPK	10244	broad.mit.edu	37	9	127969967	127969967	+	Missense_Mutation	SNP	A	A	G	rs17855990		TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr9:127969967A>G	ENST00000373538.3	+	3	488	c.178A>G	c.(178-180)Aga>Gga	p.R60G	RABEPK_ENST00000373544.1_Missense_Mutation_p.R60G|RABEPK_ENST00000259460.8_Missense_Mutation_p.R60G|RABEPK_ENST00000394125.4_Missense_Mutation_p.R60G|RABEPK_ENST00000394124.4_Missense_Mutation_p.R60G	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	60			R -> G (in dbSNP:rs17855990). {ECO:0000269|PubMed:15489334}.		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						AAATCCAAACAGAAGCTTCTC	0.532													A|||	1	0.000199681	0.0008	0.0	5008	,	,		19613	0.0		0.0	False		,,,				2504	0.0					ENST00000373544.1																			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.(178-180)Aga>Gga		Rab9 effector protein with kelch motifs							147.0	130.0	136.0					9																	127969967		2203	4300	6503	SO:0001583	missense	10244				receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane		g.chr9:127969967A>G	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.178A>G	9.37:g.127969967A>G	ENSP00000362639:p.Arg60Gly					RABEPK_ENST00000394125.4_Missense_Mutation_p.R60G|RABEPK_ENST00000394124.4_Missense_Mutation_p.R60G|RABEPK_ENST00000373538.3_Missense_Mutation_p.R60G|RABEPK_ENST00000259460.8_Missense_Mutation_p.R60G	p.R60G			Q7Z6M1	RABEK_HUMAN			4	344	+			60		R -> G (in dbSNP:rs17855990).			A8K403|O00568|Q69YR2|Q6FHA4|Q6IBG7|Q6P092|Q86Y76|Q9BWB1	Missense_Mutation	SNP	ENST00000373538.3	37	c.178A>G	CCDS6862.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	11.17	1.560526	0.27827	.	.	ENSG00000136933	ENST00000394125;ENST00000259460;ENST00000373544;ENST00000394124;ENST00000373538;ENST00000416065	T;T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21;2.21	5.72	-0.127	0.13510	Galactose oxidase, beta-propeller (1);	0.162807	0.53938	N	0.000049	T	0.04137	0.0115	N	0.01464	-0.85	0.25239	N	0.989761	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.12156	0.002;0.001;0.002;0.007	T	0.40813	-0.9543	10	0.12430	T	0.62	-2.9899	4.9613	0.14068	0.3017:0.3025:0.3958:0.0	rs17855990	60;60;60;60	A8K403;Q7Z6M1-2;Q7Z6M1;Q5T1S4	.;.;RABEK_HUMAN;.	G	60;60;60;60;60;143	ENSP00000377683:R60G;ENSP00000259460:R60G;ENSP00000362645:R60G;ENSP00000377682:R60G;ENSP00000362639:R60G;ENSP00000402234:R143G	ENSP00000259460:R60G	R	+	1	2	RABEPK	127009788	1.000000	0.71417	0.985000	0.45067	0.994000	0.84299	2.036000	0.41165	0.006000	0.14734	0.533000	0.62120	AGA		0.532	RABEPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054064.1	NM_005833		8	141	0	0	0	0.004482	0	8	141				
RTN4RL1	146760	broad.mit.edu	37	17	1840605	1840605	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr17:1840605C>T	ENST00000331238.6	-	2	990	c.511G>A	c.(511-513)Gac>Aac	p.D171N		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						TTGACCAGGTCCACGAAGATG	0.627																																					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.(511-513)Gac>Aac		reticulon 4 receptor-like 1							41.0	46.0	45.0					17																	1840605		2097	4221	6318	SO:0001583	missense	146760				axon regeneration	anchored to plasma membrane	receptor activity	g.chr17:1840605C>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.511G>A	17.37:g.1840605C>T	ENSP00000330631:p.Asp171Asn						p.D171N	NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN			2	529	-			171						Missense_Mutation	SNP	ENST00000331238.6	37	c.511G>A	CCDS45569.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153955	0.78114	.	.	ENSG00000185924	ENST00000331238	T	0.02197	4.4	5.72	5.72	0.89469	.	0.000000	0.41605	D	0.000860	T	0.03959	0.0111	L	0.28344	0.845	0.51012	D	0.999906	P	0.44627	0.839	P	0.47075	0.536	T	0.64728	-0.6339	10	0.25751	T	0.34	.	19.5547	0.95338	0.0:1.0:0.0:0.0	.	171	Q86UN2	R4RL1_HUMAN	N	171	ENSP00000330631:D171N	ENSP00000330631:D171N	D	-	1	0	RTN4RL1	1787355	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.916000	0.69981	2.717000	0.92951	0.644000	0.83932	GAC		0.627	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450155.2	NM_178568		7	44	0	0	0	0.001984	0	7	44				
EPB41L3	23136	broad.mit.edu	37	18	5397375	5397375	+	Silent	SNP	C	C	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr18:5397375C>A	ENST00000341928.2	-	18	2863	c.2523G>T	c.(2521-2523)gtG>gtT	p.V841V	EPB41L3_ENST00000400111.3_Silent_p.V619V|EPB41L3_ENST00000542146.1_Silent_p.V146V|EPB41L3_ENST00000427684.2_Silent_p.V138V|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000540638.2_Silent_p.V619V|EPB41L3_ENST00000342933.3_Silent_p.V841V|EPB41L3_ENST00000544123.1_Silent_p.V672V	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	841	Spectrin--actin-binding. {ECO:0000255}.				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						GCAGGTGGTGCACGGTGGGTT	0.567																																						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.(2521-2523)gtG>gtT		erythrocyte membrane protein band 4.1-like 3							55.0	59.0	58.0					18																	5397375		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.chr18:5397375C>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.2523G>T	18.37:g.5397375C>A						EPB41L3_ENST00000544123.1_Silent_p.V672V|EPB41L3_ENST00000540638.2_Silent_p.V619V|EPB41L3_ENST00000400111.3_Silent_p.V619V|EPB41L3_ENST00000342933.3_Silent_p.V841V|EPB41L3_ENST00000542146.1_Silent_p.V146V|EPB41L3_ENST00000427684.2_Silent_p.V138V|EPB41L3_ENST00000542652.2_5'UTR	p.V841V	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			18	2863	-			841			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Silent	SNP	ENST00000341928.2	37	c.2523G>T	CCDS11838.1																																																																																				0.567	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		14	53	1	0	2.31682e-05	0.024245	2.43076e-05	14	53				
SCN9A	6335	broad.mit.edu	37	2	167133711	167133711	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:167133711G>T	ENST00000409435.1	-	15	2655	c.2656C>A	c.(2656-2658)Cag>Aag	p.Q886K	SCN9A_ENST00000303354.6_Missense_Mutation_p.Q887K|SCN9A_ENST00000409672.1_Missense_Mutation_p.Q875K|SCN9A_ENST00000375387.4_Missense_Mutation_p.Q887K|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	886					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)	CCAAAGAGCTGCATGCCGACC	0.468																																						ENST00000375387.4																			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.(2659-2661)Cag>Aag		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						164.0	158.0	160.0					2																	167133711		2203	4298	6501	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167133711G>T	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.2656C>A	2.37:g.167133711G>T	ENSP00000386330:p.Gln886Lys					SCN9A_ENST00000409435.1_Missense_Mutation_p.Q886K|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.Q875K|SCN9A_ENST00000303354.6_Missense_Mutation_p.Q887K	p.Q887K			Q15858	SCN9A_HUMAN			16	2999	-			886					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.2659C>A	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.017747	0.93404	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.98968	-5.28;-5.28;-5.28;-5.28	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000006	D	0.98604	0.9533	M	0.76433	2.335	0.80722	D	1	P	0.52061	0.95	P	0.50617	0.646	D	0.99782	1.1028	10	0.87932	D	0	.	20.096	0.97843	0.0:0.0:1.0:0.0	.	875	E7EUN6	.	K	875;887;887;886	ENSP00000386306:Q875K;ENSP00000364536:Q887K;ENSP00000304748:Q887K;ENSP00000386330:Q886K	ENSP00000304748:Q887K	Q	-	1	0	SCN9A	166841957	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.659000	0.98597	2.819000	0.97034	0.650000	0.86243	CAG		0.468	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		11	115	1	0	5.01169e-05	0.004990	5.22959e-05	11	115				
PTCHD1	139411	broad.mit.edu	37	X	23353314	23353314	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chrX:23353314G>A	ENST00000379361.4	+	1	1182	c.322G>A	c.(322-324)Gac>Aac	p.D108N		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	108					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						CAACATGCTGGACCAGCATCA	0.677																																						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.(322-324)Gac>Aac		patched domain containing 1							70.0	51.0	58.0					X																	23353314		2203	4300	6503	SO:0001583	missense	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23353314G>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.322G>A	X.37:g.23353314G>A	ENSP00000368666:p.Asp108Asn						p.D108N	NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN			1	1182	+			108					B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	c.322G>A	CCDS35215.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.7|23.7	4.442638|4.442638	0.83993|0.83993	.|.	.|.	ENSG00000165186|ENSG00000165186	ENST00000379361|ENST00000456522	D|.	0.85258|.	-1.96|.	4.56|4.56	4.56|4.56	0.56223|0.56223	.|.	0.105390|.	0.64402|.	D|.	0.000006|.	T|.	0.61776|.	0.2374|.	L|L	0.43152|0.43152	1.355|1.355	0.58432|0.58432	D|D	0.999996|0.999996	D;B|.	0.60160|.	0.987;0.071|.	P;B|.	0.54026|.	0.74;0.246|.	T|.	0.59500|.	-0.7443|.	10|.	0.13108|.	T|.	0.6|.	.|.	16.6209|16.6209	0.84930|0.84930	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3;108|.	Q96NR3-3;Q96NR3|.	.;PTHD1_HUMAN|.	N|X	108|43	ENSP00000368666:D108N|.	ENSP00000368666:D108N|.	D|W	+|+	1|3	0|0	PTCHD1|PTCHD1	23263235|23263235	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.734000|0.734000	0.41952|0.41952	8.646000|8.646000	0.91053|0.91053	2.094000|2.094000	0.63399|0.63399	0.506000|0.506000	0.49869|0.49869	GAC|TGG		0.677	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		7	26	0	0	0	0.001984	0	7	26				
AWAT1	158833	broad.mit.edu	37	X	69455943	69455943	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chrX:69455943G>A	ENST00000374521.3	+	3	250	c.209G>A	c.(208-210)aGg>aAg	p.R70K	AWAT1_ENST00000480702.1_3'UTR	NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	70					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						GCCTGGGTAAGGAACTGGTGT	0.517																																						ENST00000374521.3																			0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						c.(208-210)aGg>aAg		acyl-CoA wax alcohol acyltransferase 1							160.0	134.0	143.0					X																	69455943		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:69455943G>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.209G>A	X.37:g.69455943G>A	ENSP00000363645:p.Arg70Lys					AWAT1_ENST00000480702.1_3'UTR	p.R70K	NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN			3	250	+			70					Q5JT21|Q6IEE4	Missense_Mutation	SNP	ENST00000374521.3	37	c.209G>A	CCDS35321.1	.	.	.	.	.	.	.	.	.	.	g	24.3	4.519816	0.85495	.	.	ENSG00000204195	ENST00000374521	T	0.17691	2.26	5.25	4.37	0.52481	.	0.075482	0.53938	D	0.000056	T	0.28466	0.0704	M	0.77103	2.36	0.38678	D	0.952466	P	0.52692	0.955	P	0.49192	0.602	T	0.13150	-1.0520	10	0.56958	D	0.05	-19.1479	10.3314	0.43825	0.0966:0.0:0.9034:0.0	.	70	Q58HT5	AWAT1_HUMAN	K	70	ENSP00000363645:R70K	ENSP00000363645:R70K	R	+	2	0	AWAT1	69372668	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	4.834000	0.62774	2.430000	0.82344	0.591000	0.81541	AGG		0.517	AWAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057066.3	NM_001013579		11	91	0	0	0	0.010729	0	11	91				
XIST	7503	broad.mit.edu	37	X	73071033	73071033	+	lincRNA	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chrX:73071033G>A	ENST00000429829.1	-	0	1555					NR_001564.2				X inactive specific transcript (non-protein coding)																		GCACTAGGCGGCAAAACCCGC	0.522																																						ENST00000429829.1																			0																				168.0	158.0	161.0					X																	73071033		876	1991	2867			7503							g.chrX:73071033G>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.73071033G>A								NR_001564.2						0	1555	-									RNA	SNP	ENST00000429829.1	37																																																																																						0.522	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		4	169	0	0	0	0.009096	0	4	169				
FNDC3A	22862	broad.mit.edu	37	13	49742771	49742771	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr13:49742771A>G	ENST00000492622.2	+	10	1365	c.1060A>G	c.(1060-1062)Ata>Gta	p.I354V	FNDC3A_ENST00000398316.3_Missense_Mutation_p.I298V|FNDC3A_ENST00000541916.1_Missense_Mutation_p.I354V	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	354	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)		ATATAATTCTATAAAGGGAAC	0.368																																						ENST00000492622.2																			0				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41						c.(1060-1062)Ata>Gta		fibronectin type III domain containing 3A							101.0	105.0	104.0					13																	49742771		2203	4300	6503	SO:0001583	missense	22862					Golgi membrane|integral to membrane		g.chr13:49742771A>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.1060A>G	13.37:g.49742771A>G	ENSP00000417257:p.Ile354Val					FNDC3A_ENST00000398316.3_Missense_Mutation_p.I298V|FNDC3A_ENST00000541916.1_Missense_Mutation_p.I354V	p.I354V	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)	10	1365	+		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)	354			Fibronectin type-III 1.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	c.1060A>G	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	A	1.681	-0.506548	0.04231	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.56611	0.45;0.45;0.45	5.54	1.77	0.24775	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.314514	0.28360	N	0.015622	T	0.22166	0.0534	N	0.03967	-0.31	0.31818	N	0.626397	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.30031	-0.9992	10	0.07175	T	0.84	-2.1323	8.495	0.33123	0.5921:0.0:0.4079:0.0	.	298;354;354	Q9Y2H6-2;G5E9X3;Q9Y2H6	.;.;FND3A_HUMAN	V	354;290;354;298	ENSP00000417257:I354V;ENSP00000441831:I354V;ENSP00000381362:I298V	ENSP00000338579:I290V	I	+	1	0	FNDC3A	48640772	0.955000	0.32602	0.993000	0.49108	0.995000	0.86356	0.715000	0.25822	0.143000	0.18926	0.482000	0.46254	ATA		0.368	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		24	56	0	0	0	0.018920	0	24	56				
TRMT13	54482	broad.mit.edu	37	1	100606565	100606565	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:100606565C>T	ENST00000370141.2	+	7	665	c.659C>T	c.(658-660)aCa>aTa	p.T220I		NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	220					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										AAGGTGACCACAAGATTCAAG	0.348																																						ENST00000370141.2																			0											c.(658-660)aCa>aTa		tRNA methyltransferase 13 homolog (S. cerevisiae)							93.0	90.0	91.0					1																	100606565		2203	4300	6503	SO:0001583	missense	54482							g.chr1:100606565C>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.659C>T	1.37:g.100606565C>T	ENSP00000359160:p.Thr220Ile						p.T220I	NM_019083.2	NP_061956.2					7	665	+								Q5VVL0|Q9NW65	Missense_Mutation	SNP	ENST00000370141.2	37	c.659C>T	CCDS765.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.223722	0.79576	.	.	ENSG00000122435	ENST00000370141	T	0.42513	0.97	5.62	5.62	0.85841	Methyltransferase TRM13 (1);	0.093700	0.64402	D	0.000001	T	0.50905	0.1643	M	0.61703	1.905	0.80722	D	1	D;D	0.59767	0.975;0.986	P;P	0.62184	0.71;0.899	T	0.29610	-1.0006	10	0.22706	T	0.39	-11.2228	19.6541	0.95830	0.0:1.0:0.0:0.0	.	206;220	B4DQS9;Q9NUP7	.;TRM13_HUMAN	I	220	ENSP00000359160:T220I	ENSP00000359160:T220I	T	+	2	0	CCDC76	100379153	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.473000	0.73572	2.638000	0.89438	0.563000	0.77884	ACA		0.348	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029919.1	NM_019083		6	41	0	0	0	0.001984	0	6	41				
EPHA5	2044	broad.mit.edu	37	4	66197747	66197747	+	Silent	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr4:66197747C>T	ENST00000273854.3	-	17	3552	c.2952G>A	c.(2950-2952)gaG>gaA	p.E984E	EPHA5_ENST00000354839.4_Silent_p.E962E|EPHA5_ENST00000511294.1_Silent_p.E985E|EPHA5_ENST00000432638.2_Silent_p.E821E	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	984	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				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						CCATGAAAATCTCTGTATACC	0.433										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.(2950-2952)gaG>gaA		EPH receptor A5							95.0	91.0	92.0					4																	66197747		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.chr4:66197747C>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.2952G>A	4.37:g.66197747C>T		TSP Lung(17;0.13)				EPHA5_ENST00000354839.4_Silent_p.E962E|EPHA5_ENST00000432638.2_Silent_p.E821E|EPHA5_ENST00000511294.1_Silent_p.E985E	p.E984E	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			17	3552	-			984			SAM.		Q7Z3F2	Silent	SNP	ENST00000273854.3	37	c.2952G>A	CCDS3513.1																																																																																				0.433	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		11	43	0	0	0	0.013537	0	11	43				
SEMA6A	57556	broad.mit.edu	37	5	115782989	115782989	+	Silent	SNP	G	G	A	rs376028528		TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr5:115782989G>A	ENST00000343348.6	-	19	3200	c.2413C>T	c.(2413-2415)Ctg>Ttg	p.L805L	CTB-118N6.3_ENST00000508424.1_RNA|CTB-118N6.3_ENST00000512128.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000282394.6_Silent_p.L282L|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000513137.1_Silent_p.L232L|SEMA6A_ENST00000503865.1_Silent_p.L184L|SEMA6A_ENST00000257414.8_Silent_p.L822L|SEMA6A_ENST00000510263.1_Silent_p.L805L	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	805	Pro-rich.				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)		GAGGCCCGCAGGGGCAGGTCC	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		15871	0.001		0.0	False		,,,				2504	0.0					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.(2413-2415)Ctg>Ttg		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A							38.0	41.0	40.0					5																	115782989		1993	4164	6157	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.chr5:115782989G>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.2413C>T	5.37:g.115782989G>A						SEMA6A_ENST00000257414.8_Silent_p.L822L|SEMA6A_ENST00000510263.1_Silent_p.L805L|SEMA6A_ENST00000513137.1_Silent_p.L232L|SEMA6A_ENST00000503865.1_Silent_p.L184L|SEMA6A_ENST00000282394.6_Silent_p.L282L	p.L805L	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	3200	-		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)	805			Pro-rich.		Q9P2H9	Silent	SNP	ENST00000343348.6	37	c.2413C>T	CCDS47256.1																																																																																				0.652	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		7	50	0	0	0	0.001984	0	7	50				
SOX17	64321	broad.mit.edu	37	8	55372417	55372417	+	Silent	SNP	C	C	T	rs201582946		TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr8:55372417C>T	ENST00000297316.4	+	2	1311	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	369	Sox C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00849}.				angiogenesis (GO:0001525)|canonical Wnt signaling pathway (GO:0060070)|cardiac cell fate determination (GO:0060913)|cardiogenic plate morphogenesis (GO:0003142)|cell migration involved in gastrulation (GO:0042074)|common bile duct development (GO:0061009)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cell differentiation (GO:0060956)|endocardium formation (GO:0060214)|endoderm formation (GO:0001706)|endodermal cell fate determination (GO:0007493)|endodermal digestive tract morphogenesis (GO:0061031)|gall bladder development (GO:0061010)|heart formation (GO:0060914)|heart looping (GO:0001947)|inner cell mass cellular morphogenesis (GO:0001828)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth (GO:0030308)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell differentiation (GO:0045597)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein destabilization (GO:0031648)|protein stabilization (GO:0050821)|regulation of cardiac cell fate specification (GO:2000043)|regulation of embryonic development (GO:0045995)|regulation of stem cell division (GO:2000035)|regulation of stem cell proliferation (GO:0072091)|regulation of transcription from RNA polymerase II promoter involved in definitive endodermal cell fate specification (GO:0060807)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|rostrocaudal neural tube patterning (GO:0021903)|signal transduction involved in regulation of gene expression (GO:0023019)|spermatogenesis (GO:0007283)|stem cell fate specification (GO:0048866)|vasculogenesis (GO:0001570)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			ATCTGCACTTCGTGTGCAAGC	0.662													.|||	1	0.000199681	0.0	0.0014	5008	,	,		15243	0.0		0.0	False		,,,				2504	0.0					ENST00000297316.4																			0				endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18						c.(1105-1107)ttC>ttT		SRY (sex determining region Y)-box 17							40.0	46.0	44.0					8																	55372417		2203	4300	6503	SO:0001819	synonymous_variant	64321				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr8:55372417C>T	AB073988	CCDS6159.1	8q11.23	2014-09-04			ENSG00000164736	ENSG00000164736		"""SRY (sex determining region Y)-boxes"""	18122	protein-coding gene	gene with protein product		610928				11786926	Standard	NM_022454		Approved		uc003xsb.4	Q9H6I2	OTTHUMG00000164377	ENST00000297316.4:c.1107C>T	8.37:g.55372417C>T							p.F369F	NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)		2	1311	+		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	369			Sox C-terminal.			Silent	SNP	ENST00000297316.4	37	c.1107C>T	CCDS6159.1																																																																																				0.662	SOX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378526.2			4	22	0	0	0	0.014758	0	4	22				
RYR3	6263	broad.mit.edu	37	15	33916108	33916108	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr15:33916108A>G	ENST00000389232.4	+	20	2528	c.2458A>G	c.(2458-2460)Aga>Gga	p.R820G	RYR3_ENST00000415757.3_Missense_Mutation_p.R820G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	820					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)		AGAGAAGATGAGATTGGAGCC	0.488																																						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.(2458-2460)Aga>Gga		ryanodine receptor 3							149.0	146.0	147.0					15																	33916108		1901	4126	6027	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33916108A>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.2458A>G	15.37:g.33916108A>G	ENSP00000373884:p.Arg820Gly					RYR3_ENST00000415757.3_Missense_Mutation_p.R820G	p.R820G	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)	20	2528	+		all_lung(180;7.18e-09)	820					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.2458A>G	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	A	14.17	2.455349	0.43634	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96619	-4.07;-4.07	4.86	2.42	0.29668	.	0.720289	0.12777	N	0.440025	D	0.93536	0.7937	L	0.48642	1.525	0.40531	D	0.98093	B;B	0.19817	0.039;0.003	B;B	0.15870	0.014;0.004	D	0.88140	0.2844	10	0.44086	T	0.13	.	11.7532	0.51859	0.5661:0.4339:0.0:0.0	.	820;820	Q15413-2;Q15413	.;RYR3_HUMAN	G	820	ENSP00000373884:R820G;ENSP00000399610:R820G	ENSP00000354735:R820G	R	+	1	2	RYR3	31703400	0.996000	0.38824	1.000000	0.80357	0.995000	0.86356	1.032000	0.30178	0.304000	0.22809	0.460000	0.39030	AGA		0.488	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			24	95	0	0	0	0.021523	0	24	95				
SETD1A	9739	broad.mit.edu	37	16	30977192	30977192	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr16:30977192G>A	ENST00000262519.8	+	8	2676	c.1990G>A	c.(1990-1992)Gag>Aag	p.E664K		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	664					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						GAACTCCTTGGAGCTCATGGA	0.622																																						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.(1990-1992)Gag>Aag		SET domain containing 1A							69.0	66.0	67.0					16																	30977192		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.chr16:30977192G>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.1990G>A	16.37:g.30977192G>A	ENSP00000262519:p.Glu664Lys						p.E664K	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			8	2676	+			664					A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.1990G>A	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702206	0.48307	.	.	ENSG00000099381	ENST00000262519	D	0.96073	-3.9	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	D	0.96562	0.8878	L	0.46157	1.445	0.58432	D	0.999999	D	0.76494	0.999	D	0.80764	0.994	D	0.97130	0.9817	10	0.72032	D	0.01	.	16.5112	0.84286	0.0:0.0:1.0:0.0	.	664	O15047	SET1A_HUMAN	K	664	ENSP00000262519:E664K	ENSP00000262519:E664K	E	+	1	0	SETD1A	30884693	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.310000	0.96267	2.434000	0.82447	0.655000	0.94253	GAG		0.622	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		10	89	0	0	0	0.010729	0	10	89				
TADA2A	6871	broad.mit.edu	37	17	35825582	35825582	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr17:35825582A>G	ENST00000394395.2	+	11	933	c.760A>G	c.(760-762)Atg>Gtg	p.M254V	TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000225396.6_Missense_Mutation_p.M254V|TADA2A_ENST00000417170.1_Missense_Mutation_p.M254V|TADA2A_ENST00000586023.1_Missense_Mutation_p.M254V	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	254					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						GTATGAAACAATGAGGCGATT	0.433																																						ENST00000394395.2																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						c.(760-762)Atg>Gtg		transcriptional adaptor 2A							184.0	165.0	171.0					17																	35825582		2203	4300	6503	SO:0001583	missense	6871				histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding	g.chr17:35825582A>G	AK022767	CCDS11319.1, CCDS45656.1	17q12-q21	2014-04-10	2009-10-02	2009-10-02	ENSG00000108264	ENSG00000276234			11531	protein-coding gene	gene with protein product		602276	"""transcriptional adaptor 2 (ADA2 homolog, yeast)-like"""	TADA2L		8552087	Standard	XM_006722043		Approved	ADA2, hADA2, ADA2A	uc002hnt.3	O75478	OTTHUMG00000188469	ENST00000394395.2:c.760A>G	17.37:g.35825582A>G	ENSP00000377918:p.Met254Val					TADA2A_ENST00000225396.6_Missense_Mutation_p.M254V|TADA2A_ENST00000417170.1_Missense_Mutation_p.M254V|TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000586023.1_Missense_Mutation_p.M254V	p.M254V	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN			11	933	+			254					A8MVD0|B3KMU9|Q9BVJ0|Q9UCW2|Q9UP49	Missense_Mutation	SNP	ENST00000394395.2	37	c.760A>G	CCDS11319.1	.	.	.	.	.	.	.	.	.	.	A	18.94	3.729008	0.69074	.	.	ENSG00000108264	ENST00000394395;ENST00000428846;ENST00000225396;ENST00000417170	T;T;T	0.49139	0.79;0.79;0.79	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.50188	0.1601	L	0.46885	1.475	0.80722	D	1	P;P	0.43633	0.813;0.465	P;B	0.45753	0.492;0.168	T	0.53457	-0.8436	10	0.66056	D	0.02	-17.646	15.948	0.79809	1.0:0.0:0.0:0.0	.	254;254	O75478-2;O75478	.;TAD2A_HUMAN	V	254;153;254;254	ENSP00000377918:M254V;ENSP00000225396:M254V;ENSP00000406699:M254V	ENSP00000225396:M254V	M	+	1	0	TADA2A	32899695	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.887000	0.75616	2.171000	0.68590	0.379000	0.24179	ATG		0.433	TADA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256677.3	NM_001488		37	103	0	0	0	0.025465	0	37	103				
YARS2	51067	broad.mit.edu	37	12	32900172	32900172	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr12:32900172C>T	ENST00000324868.8	-	5	1427	c.1400G>A	c.(1399-1401)aGa>aAa	p.R467K	YARS2_ENST00000551673.1_5'UTR	NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	467					gene expression (GO:0010467)|mitochondrial tyrosyl-tRNA aminoacylation (GO:0070184)|translation (GO:0006412)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)|tyrosine binding (GO:0072545)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	GTAGAAATTTCTTTTTCCTAT	0.338																																						ENST00000324868.8																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(1399-1401)aGa>aAa		tyrosyl-tRNA synthetase 2, mitochondrial	L-Tyrosine(DB00135)						77.0	75.0	75.0					12																	32900172		2201	4300	6501	SO:0001583	missense	51067				tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity	g.chr12:32900172C>T	AF132939	CCDS31770.1	12p11.21	2014-03-19	2007-02-23		ENSG00000139131	ENSG00000139131	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	24249	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 2, mitochondrial"""	610957				15779907, 15840810	Standard	NM_001040436		Approved	FLJ13995, CGI-04, mt-TyrRS	uc001rli.3	Q9Y2Z4	OTTHUMG00000169454	ENST00000324868.8:c.1400G>A	12.37:g.32900172C>T	ENSP00000320658:p.Arg467Lys					YARS2_ENST00000551673.1_5'UTR	p.R467K	NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN			5	1427	-	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		467					D3DUW8|Q9H817	Missense_Mutation	SNP	ENST00000324868.8	37	c.1400G>A	CCDS31770.1	.	.	.	.	.	.	.	.	.	.	C	8.868	0.948519	0.18356	.	.	ENSG00000139131	ENST00000324868	T	0.69306	-0.39	5.85	4.0	0.46444	RNA-binding S4 (1);	0.250704	0.46145	D	0.000320	T	0.31263	0.0791	N	0.02247	-0.625	0.37504	D	0.916861	B	0.19200	0.034	B	0.13407	0.009	T	0.35549	-0.9784	10	0.02654	T	1	-23.2057	5.9198	0.19076	0.0:0.6445:0.1665:0.189	.	467	Q9Y2Z4	SYYM_HUMAN	K	467	ENSP00000320658:R467K	ENSP00000320658:R467K	R	-	2	0	YARS2	32791439	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	1.538000	0.36094	1.456000	0.47831	-0.291000	0.09656	AGA		0.338	YARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404153.1	NM_015936		19	30	0	0	0	0.007413	0	19	30				
PRSS1	5644	broad.mit.edu	37	7	142459743	142459743	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr7:142459743G>A	ENST00000311737.7	+	3	325	c.319G>A	c.(319-321)Gac>Aac	p.D107N	PRSS1_ENST00000486171.1_Missense_Mutation_p.D121N	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	107	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)	TCTGAACAATGACATCATGTT	0.552																																						ENST00000486171.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38						c.(361-363)Gac>Aac		protease, serine, 1 (trypsin 1)							243.0	224.0	231.0					7																	142459743		2203	4300	6503	SO:0001583	missense	5644				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142459743G>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.319G>A	7.37:g.142459743G>A	ENSP00000308720:p.Asp107Asn					PRSS1_ENST00000311737.7_Missense_Mutation_p.D107N	p.D121N			P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		4	378	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	107			Peptidase S1.		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	c.361G>A	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492379	0.64074	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243;ENST00000492062	D;D;D	0.98747	-5.11;-5.11;-3.36	3.28	3.28	0.37604	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.99199	0.9722	M	0.91872	3.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98886	1.0771	10	0.87932	D	0	.	14.0086	0.64481	0.0:0.0:1.0:0.0	.	121;107	E7EQ64;P07477	.;TRY1_HUMAN	N	121;107;97;57	ENSP00000417854:D121N;ENSP00000308720:D107N;ENSP00000419912:D57N	ENSP00000308720:D107N	D	+	1	0	PRSS1	142139317	1.000000	0.71417	0.999000	0.59377	0.175000	0.22909	9.680000	0.98651	1.789000	0.52484	0.398000	0.26397	GAC		0.552	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			17	86	0	0	0	0.004990	0	17	86				
POTEM	641455	broad.mit.edu	37	14	20010235	20010235	+	Missense_Mutation	SNP	A	A	G	rs113380635		TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr14:20010235A>G	ENST00000551509.1	-	5	974	c.923T>C	c.(922-924)gTt>gCt	p.V308A	RNU6-1268P_ENST00000391214.1_RNA|RP11-244H18.1_ENST00000547584.1_lincRNA	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	308										endometrium(4)|kidney(1)|lung(4)	9						AAGTATGAGAACAGTTCTAAA	0.368																																						ENST00000551509.1																			0				endometrium(4)|kidney(1)|lung(4)	9						c.(922-924)gTt>gCt		POTE ankyrin domain family, member M							42.0	37.0	39.0					14																	20010235		365	763	1128	SO:0001583	missense	641455							g.chr14:20010235A>G		CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37096	protein-coding gene	gene with protein product	"""prostate-specific P704P"""					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.923T>C	14.37:g.20010235A>G	ENSP00000452296:p.Val308Ala					RP11-244H18.1_ENST00000547584.1_lincRNA	p.V308A	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN			5	974	-			308						Missense_Mutation	SNP	ENST00000551509.1	37	c.923T>C	CCDS45076.1	.	.	.	.	.	.	.	.	.	.	g	5.617	0.298596	0.10622	.	.	ENSG00000187537	ENST00000551509;ENST00000439503;ENST00000344684	T	0.60040	0.22	0.906	0.906	0.19314	Ankyrin repeat-containing domain (4);	0.000000	0.32655	N	0.005811	T	0.10723	0.0262	N	0.00039	-2.51	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.25187	-1.0139	8	.	.	.	.	3.4158	0.07375	0.2955:0.0:0.7045:0.0	.	308	A6NI47	POTEM_HUMAN	A	308;393;308	ENSP00000452296:V308A	.	V	-	2	0	POTEM	19080235	0.621000	0.27077	0.813000	0.32504	0.042000	0.13812	0.922000	0.28734	-0.020000	0.14032	-1.160000	0.01791	GTT		0.368	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409490.3	NM_001145442		3	28	0	0	0	0.004672	0	3	28				
SLC30A9	10463	broad.mit.edu	37	4	42069198	42069198	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr4:42069198C>T	ENST00000264451.7	+	14	1421	c.1241C>T	c.(1240-1242)aCt>aTt	p.T414I		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	414					nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATGGGCCTTACTTCTATAACA	0.333																																						ENST00000264451.6																			0				central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1240-1242)aCt>aTt		solute carrier family 30 (zinc transporter), member 9							130.0	132.0	131.0					4																	42069198		2203	4300	6503	SO:0001583	missense	10463				nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity	g.chr4:42069198C>T	AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"""Solute carriers"""	1329	protein-coding gene	gene with protein product	"""GRIP1-dependent nuclear receptor coactivator"""	604604	"""chromosome 4 open reading frame 1"""	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.1241C>T	4.37:g.42069198C>T	ENSP00000264451:p.Thr414Ile						p.T414I	NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN			14	1421	+			414					Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Missense_Mutation	SNP	ENST00000264451.7	37	c.1241C>T	CCDS3465.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766152	0.90020	.	.	ENSG00000014824	ENST00000264451;ENST00000536881	T	0.61040	0.14	6.17	6.17	0.99709	.	0.042699	0.85682	D	0.000000	T	0.80633	0.4660	M	0.86268	2.805	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.81280	-0.1004	10	0.72032	D	0.01	-15.2681	20.8794	0.99867	0.0:1.0:0.0:0.0	.	414	Q6PML9	ZNT9_HUMAN	I	414;242	ENSP00000264451:T414I	ENSP00000264451:T414I	T	+	2	0	SLC30A9	41763955	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	ACT		0.333	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216842.3			5	146	0	0	0	0.014758	0	5	146				
LANCL2	55915	broad.mit.edu	37	7	55466318	55466318	+	Silent	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr7:55466318C>T	ENST00000254770.2	+	3	1103	c.525C>T	c.(523-525)gtC>gtT	p.V175V	LANCL2_ENST00000486376.1_3'UTR	NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	175					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)			AGGAATGTGTCACAAAGTGAG	0.463																																						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.(523-525)gtC>gtT		LanC lantibiotic synthetase component C-like 2 (bacterial)							47.0	44.0	45.0					7																	55466318		2203	4300	6503	SO:0001819	synonymous_variant	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.chr7:55466318C>T	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.525C>T	7.37:g.55466318C>T						LANCL2_ENST00000486376.1_3'UTR	p.V175V	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	1103	+	Breast(14;0.0379)		175					B2R8D4|Q6NSL4|Q8TCQ3|Q9BSR1	Silent	SNP	ENST00000254770.2	37	c.525C>T	CCDS5517.1																																																																																				0.463	LANCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251459.1	NM_018697		8	40	0	0	0	0.003080	0	8	40				
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr17:7578394T>C	ENST00000269305.4	-	5	725	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000420246.2_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR	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	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; 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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCAGCGCTCATGGTGGGGGCA	0.642		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"""		217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|salivary_gland(1)|skin(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.(535-537)cAt>cGt	Other conserved DNA damage response genes	tumor protein p53							47.0	47.0	47.0					17																	7578394		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.chr17:7578394T>C	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.536A>G	17.37:g.7578394T>C	ENSP00000269305:p.His179Arg	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR	p.H179R	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	668	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	179		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; 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.536A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694391	0.88830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.985;1.0;0.995;1.0;0.996	D;D;D;D;D;D;D	0.97110	0.929;0.996;0.912;1.0;0.985;0.995;0.937	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R	ENSP00000269305:H179R	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		24	41	0	0	0	0.024334	0	24	41				
CREBBP	1387	broad.mit.edu	37	16	3786770	3786770	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr16:3786770C>T	ENST00000262367.5	-	27	5250	c.4441G>A	c.(4441-4443)Gat>Aat	p.D1481N	CREBBP_ENST00000382070.3_Missense_Mutation_p.D1443N	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1481	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.|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)		AAGATGTAATCATCTCCTTCA	0.527			"""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.(4441-4443)Gat>Aat		CREB binding protein							217.0	185.0	196.0					16																	3786770		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.chr16:3786770C>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.4441G>A	16.37:g.3786770C>T	ENSP00000262367:p.Asp1481Asn					CREBBP_ENST00000382070.3_Missense_Mutation_p.D1443N	p.D1481N	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	27	5250	-		Ovarian(90;0.0266)	1481			Cys/His-rich.|Interaction with TRERF1.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.4441G>A	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	c	25.1	4.605578	0.87157	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.94613	-3.47;-3.47	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.97679	0.9239	M	0.88640	2.97	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.85130	0.997;0.997	D	0.98137	1.0434	10	0.62326	D	0.03	-29.2892	18.1954	0.89819	0.0:1.0:0.0:0.0	.	1511;1481	Q4LE28;Q92793	.;CBP_HUMAN	N	1481;1511;1443;70	ENSP00000262367:D1481N;ENSP00000371502:D1443N	ENSP00000262367:D1481N	D	-	1	0	CREBBP	3726771	1.000000	0.71417	0.998000	0.56505	0.935000	0.57460	7.776000	0.85560	2.607000	0.88179	0.561000	0.74099	GAT		0.527	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		28	133	0	0	0	0.007291	0	28	133				
LRCH4	4034	broad.mit.edu	37	7	100179491	100179491	+	Silent	SNP	G	G	A	rs149222783	byFrequency	TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr7:100179491G>A	ENST00000310300.6	-	4	559	c.507C>T	c.(505-507)aaC>aaT	p.N169N	LRCH4_ENST00000497245.1_De_novo_Start_OutOfFrame	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	169					nervous system development (GO:0007399)	PML body (GO:0016605)				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATTGGAGCTCGTTGCTGCTCA	0.612																																						ENST00000497245.1																			0				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23								leucine-rich repeats and calponin homology (CH) domain containing 4		G		1,4405	2.1+/-5.4	0,1,2202	115.0	96.0	102.0		507	2.0	1.0	7	dbSNP_134	102	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	LRCH4	NM_002319.3		0,7,6496	AA,AG,GG		0.0698,0.0227,0.0538		169/684	100179491	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	4034				nervous system development	PML body	protein binding	g.chr7:100179491G>A	AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.507C>T	7.37:g.100179491G>A						LRCH4_ENST00000310300.6_Silent_p.N169N				O75427	LRCH4_HUMAN			0	424	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)							A4D2D5|Q8WV85|Q96ID0	Translation_Start_Site	SNP	ENST00000310300.6	37		CCDS34706.1																																																																																				0.612	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356110.1	NM_002319		5	81	0	0	0	0.014758	0	5	81				
ZNF705B	100132396	broad.mit.edu	37	8	7808253	7808253	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr8:7808253C>T	ENST00000400120.3	+	6	584	c.302C>T	c.(301-303)tCc>tTc	p.S101F	ZNF705B_ENST00000443676.1_Missense_Mutation_p.S101F	NM_001193630.1	NP_001180559.1	P0CI00	Z705B_HUMAN	zinc finger protein 705B	101					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(2)|lung(2)	4						AAAGACACATCCACCAGTATG	0.338																																						ENST00000443676.1																			0				kidney(2)|lung(2)	4						c.(301-303)tCc>tTc		zinc finger protein 705B																																				SO:0001583	missense	100132396				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr8:7808253C>T		CCDS55194.1	8p23.1	2013-01-08			ENSG00000215356	ENSG00000215356		"""Zinc fingers, C2H2-type"", ""-"""	32284	protein-coding gene	gene with protein product							Standard	NM_001193630		Approved		uc010lro.1	P0CI00	OTTHUMG00000165401	ENST00000400120.3:c.302C>T	8.37:g.7808253C>T	ENSP00000382987:p.Ser101Phe					ZNF705B_ENST00000400120.3_Missense_Mutation_p.S101F	p.S101F			P0CI00	Z705L_HUMAN			5	418	+			101					A8K971|A8MY01	Missense_Mutation	SNP	ENST00000400120.3	37	c.302C>T	CCDS55194.1	.	.	.	.	.	.	.	.	.	.	C	3.142	-0.176109	0.06380	.	.	ENSG00000215356	ENST00000400120;ENST00000443676	T;T	0.07567	3.18;3.18	1.03	1.03	0.20045	.	.	.	.	.	T	0.10723	0.0262	M	0.78637	2.42	0.09310	N	1	B	0.31790	0.34	B	0.30855	0.121	T	0.20638	-1.0269	9	0.46703	T	0.11	.	5.0393	0.14451	0.0:0.6147:0.3853:0.0	.	101	P0CI00	Z705L_HUMAN	F	101	ENSP00000382987:S101F;ENSP00000411618:S101F	ENSP00000382987:S101F	S	+	2	0	ZNF705B	7845663	0.000000	0.05858	0.012000	0.15200	0.081000	0.17604	-0.044000	0.12023	0.874000	0.35823	0.184000	0.17185	TCC		0.338	ZNF705B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383804.1	NM_001193630		34	96	0	0	0	0.021022	0	34	96				
RAB9BP1	9366	broad.mit.edu	37	5	104435661	104435661	+	lincRNA	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr5:104435661C>T	ENST00000522464.1	-	0	68				RP11-6N13.1_ENST00000503650.1_lincRNA																							GTGGCAGTAGCATTTGAAAAG	0.478																																						ENST00000522464.1																			0																																																			9366							g.chr5:104435661C>T																													5.37:g.104435661C>T						RP11-6N13.1_ENST00000503650.1_lincRNA								0	68	-									RNA	SNP	ENST00000522464.1	37																																																																																						0.478	CTD-2374C24.1-002	PUTATIVE	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000374820.1			5	27	0	0	0	0.021553	0	5	27				
PSMA8	143471	broad.mit.edu	37	18	23772346	23772346	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr18:23772346G>A	ENST00000308268.6	+	7	831	c.742G>A	c.(742-744)Gag>Aag	p.E248K	PSMA8_ENST00000343848.6_Missense_Mutation_p.E204K|PSMA8_ENST00000415576.2_Missense_Mutation_p.E242K	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8	248					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)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome core complex, alpha-subunit complex (GO:0019773)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			GGAAGAAGCAGAGAAGAAAAA	0.303																																						ENST00000308268.6																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16						c.(742-744)Gag>Aag		proteasome (prosome, macropain) subunit, alpha type, 8							64.0	70.0	68.0					18																	23772346		2202	4299	6501	SO:0001583	missense	143471				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, alpha-subunit complex	threonine-type endopeptidase activity	g.chr18:23772346G>A	BC047355	CCDS32808.1, CCDS45842.1, CCDS45843.1	18q11.2	2006-12-18				ENSG00000154611		"""Proteasome (prosome, macropain) subunits"""	22985	protein-coding gene	gene with protein product							Standard	XM_005258199		Approved	MGC26605, PSMA7L	uc002kvq.3	Q8TAA3		ENST00000308268.6:c.742G>A	18.37:g.23772346G>A	ENSP00000311121:p.Glu248Lys					PSMA8_ENST00000343848.6_Missense_Mutation_p.E204K|PSMA8_ENST00000415576.2_Missense_Mutation_p.E242K	p.E248K	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)		7	831	+	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		248					B0YJ75|Q8IVP4|Q8TA98|Q8TAA2	Missense_Mutation	SNP	ENST00000308268.6	37	c.742G>A	CCDS32808.1	.	.	.	.	.	.	.	.	.	.	G	9.256	1.041874	0.19748	.	.	ENSG00000154611	ENST00000308268;ENST00000415576;ENST00000343848;ENST00000536423	T;T;T	0.34859	1.38;1.8;1.34	4.49	3.61	0.41365	.	0.211286	0.39083	N	0.001467	T	0.18425	0.0442	N	0.17082	0.46	0.54753	D	0.999981	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.04013	0.0;0.0;0.001	T	0.05683	-1.0870	10	0.08599	T	0.76	-14.0226	8.8544	0.35219	0.103:0.0:0.897:0.0	.	248;242;204	Q8TAA3;Q8TAA3-5;Q8TAA3-2	PSA7L_HUMAN;.;.	K	248;242;204;204	ENSP00000311121:E248K;ENSP00000409284:E242K;ENSP00000345584:E204K	ENSP00000311121:E248K	E	+	1	0	PSMA8	22026344	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.481000	0.45215	1.270000	0.44297	0.650000	0.86243	GAG		0.303	PSMA8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446255.1	NM_144662		9	47	0	0	0	0.004482	0	9	47				
ACD	65057	broad.mit.edu	37	16	67692699	67692699	+	Silent	SNP	G	G	A	rs374438854		TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr16:67692699G>A	ENST00000393919.4	-	8	1188	c.924C>T	c.(922-924)gtC>gtT	p.V308V	PARD6A_ENST00000219255.3_5'Flank|PARD6A_ENST00000458121.2_5'Flank|ACD_ENST00000219251.8_Silent_p.V305V|PARD6A_ENST00000602551.1_5'Flank			Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	308	Interaction with POT1.				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)		TTGAGCTGGGGACAGTGTACA	0.552																																						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.(913-915)gtC>gtT		adrenocortical dysplasia homolog (mouse)		G	,,	0,4396		0,0,2198	90.0	83.0	85.0		924,915,915	2.6	1.0	16		85	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ACD	NM_001082486.1,NM_001082487.1,NM_022914.2	,,	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	,,	308/545,305/529,305/542	67692699	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	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.chr16:67692699G>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.924C>T	16.37:g.67692699G>A						ACD_ENST00000393919.4_Silent_p.V308V	p.V305V	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)	8	1246	-		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	308			Interaction with POT1.		Q562H5|Q9H8F9	Silent	SNP	ENST00000393919.4	37	c.915C>T	CCDS42181.1																																																																																				0.552	ACD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268880.1	NM_022914		9	51	0	0	0	0.006214	0	9	51				
MIA3	375056	broad.mit.edu	37	1	222801790	222801790	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:222801790G>A	ENST00000344922.5	+	4	1253	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K	MIA3_ENST00000344507.1_Missense_Mutation_p.E410K|MIA3_ENST00000344441.6_Missense_Mutation_p.E410K|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	410					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)		TAGTTCAGAGGAAGAAAAAGA	0.408																																						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.(1228-1230)Gaa>Aaa		melanoma inhibitory activity family, member 3							105.0	98.0	100.0					1																	222801790		1918	4135	6053	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.chr1:222801790G>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.1228G>A	1.37:g.222801790G>A	ENSP00000340900:p.Glu410Lys					MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.E410K|MIA3_ENST00000344507.1_Missense_Mutation_p.E410K	p.E410K	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	4	1253	+			410					A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	c.1228G>A	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.696935	0.88830	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000344507	T;T;T	0.38887	1.11;1.11;1.19	4.93	4.01	0.46588	.	.	.	.	.	T	0.58466	0.2124	M	0.65498	2.005	0.25514	N	0.987436	D;D	0.67145	0.996;0.976	D;P	0.64776	0.929;0.631	T	0.49579	-0.8925	9	0.72032	D	0.01	.	10.0772	0.42368	0.0797:0.148:0.7723:0.0	.	410;410	Q5JRA6-2;Q5JRA6	.;MIA3_HUMAN	K	410	ENSP00000340900:E410K;ENSP00000340587:E410K;ENSP00000341348:E410K	ENSP00000325973:E410K	E	+	1	0	MIA3	220868413	1.000000	0.71417	0.006000	0.13384	0.578000	0.36192	4.180000	0.58296	1.190000	0.43042	0.305000	0.20034	GAA		0.408	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		15	61	0	0	0	0.024245	0	15	61				
LYST	1130	broad.mit.edu	37	1	235904814	235904814	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:235904814G>A	ENST00000389794.3	-	31	8440	c.8266C>T	c.(8266-8268)Cac>Tac	p.H2756Y	LYST_ENST00000389793.2_Missense_Mutation_p.H2756Y			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2756					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.H2756N(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)			TGTGCAGCGTGGGCTGGCGAC	0.438																																						ENST00000389794.3																			1	Substitution - Missense(1)	p.H2756N(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.(8266-8268)Cac>Tac		lysosomal trafficking regulator							175.0	153.0	160.0					1																	235904814		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.chr1:235904814G>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.8266C>T	1.37:g.235904814G>A	ENSP00000374444:p.His2756Tyr					LYST_ENST00000389793.2_Missense_Mutation_p.H2756Y	p.H2756Y			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		31	8440	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	2756					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.8266C>T	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074271	0.36566	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.61627	0.09;0.09	5.63	5.63	0.86233	.	0.397790	0.29572	N	0.011761	T	0.42653	0.1212	L	0.36672	1.1	0.80722	D	1	P	0.42908	0.793	B	0.28553	0.091	T	0.50457	-0.8826	10	0.56958	D	0.05	.	13.7809	0.63081	0.0:0.0:0.8373:0.1627	.	2756	Q99698	LYST_HUMAN	Y	2756	ENSP00000374444:H2756Y;ENSP00000374443:H2756Y	ENSP00000374443:H2756Y	H	-	1	0	LYST	233971437	0.992000	0.36948	0.990000	0.47175	0.218000	0.24690	5.267000	0.65530	2.664000	0.90586	0.591000	0.81541	CAC		0.438	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			11	77	0	0	0	0.008291	0	11	77				
HCAR1	27198	broad.mit.edu	37	12	123214555	123214555	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr12:123214555G>A	ENST00000436083.2	-	1	835	c.332C>T	c.(331-333)gCg>gTg	p.A111V	HCAR1_ENST00000356987.2_Missense_Mutation_p.A111V|HCAR1_ENST00000432564.1_Missense_Mutation_p.A111V			Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	111					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						ATACCTGTCCGCAGCCACCAC	0.622																																						ENST00000432564.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						c.(331-333)gCg>gTg		hydroxycarboxylic acid receptor 1							52.0	48.0	50.0					12																	123214555		2203	4300	6503	SO:0001583	missense	27198				response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:123214555G>A	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.332C>T	12.37:g.123214555G>A	ENSP00000409980:p.Ala111Val					HCAR1_ENST00000436083.2_Missense_Mutation_p.A111V|HCAR1_ENST00000356987.2_Missense_Mutation_p.A111V	p.A111V	NM_032554.3	NP_115943.1	Q9BXC0	HCAR1_HUMAN			1	574	-			111					B2R9X4|Q3Y5J3|Q4VBN1|Q6NXU5	Missense_Mutation	SNP	ENST00000436083.2	37	c.332C>T	CCDS9236.1	.	.	.	.	.	.	.	.	.	.	G	4.312	0.057278	0.08339	.	.	ENSG00000196917	ENST00000356987;ENST00000432564;ENST00000436083	T;T;T	0.31510	1.49;1.49;1.49	5.19	4.04	0.47022	GPCR, rhodopsin-like superfamily (1);	0.341077	0.22466	N	0.059699	T	0.04679	0.0127	N	0.00063	-2.32	0.22412	N	0.999127	B	0.02656	0.0	B	0.04013	0.001	T	0.36939	-0.9727	10	0.02654	T	1	-11.6829	6.9823	0.24709	0.8186:0.0:0.1814:0.0	.	111	Q9BXC0	HCAR1_HUMAN	V	111	ENSP00000349478:A111V;ENSP00000389255:A111V;ENSP00000409980:A111V	ENSP00000349478:A111V	A	-	2	0	HCAR1	121780508	0.022000	0.18835	0.971000	0.41717	0.991000	0.79684	2.975000	0.49281	0.787000	0.33731	-0.294000	0.09567	GCG		0.622	HCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401415.1			6	41	0	0	0	0.021553	0	6	41				
NTN3	4917	broad.mit.edu	37	16	2522266	2522266	+	Silent	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr16:2522266C>T	ENST00000293973.1	+	1	767	c.564C>T	c.(562-564)agC>agT	p.S188S	TBC1D24_ENST00000293970.5_5'Flank|TBC1D24_ENST00000567020.1_5'Flank	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	188	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				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						CTGATGGCAGCGGCCTTCTGG	0.697																																						ENST00000293973.1																			0				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						c.(562-564)agC>agT		netrin 3							17.0	19.0	19.0					16																	2522266		2194	4294	6488	SO:0001819	synonymous_variant	4917				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix		g.chr16:2522266C>T	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.564C>T	16.37:g.2522266C>T							p.S188S	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN			1	767	+			188			Laminin N-terminal.			Silent	SNP	ENST00000293973.1	37	c.564C>T	CCDS10469.1																																																																																				0.697	NTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250812.1	NM_006181		5	16	0	0	0	0.021553	0	5	16				
CFAP46	54777	broad.mit.edu	37	10	134628403	134628403	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr10:134628403T>C	ENST00000368586.5	-	51	7233	c.7133A>G	c.(7132-7134)aAg>aGg	p.K2378R	TTC40_ENST00000263170.5_Missense_Mutation_p.K539R	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TCTTCCCTCCTTTTTCACGCC	0.567																																						ENST00000368586.5																			0				breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						c.(7132-7134)aAg>aGg		tetratricopeptide repeat domain 40							162.0	166.0	164.0					10																	134628403		2203	4300	6503	SO:0001583	missense	54777							g.chr10:134628403T>C																												ENST00000368586.5:c.7133A>G	10.37:g.134628403T>C	ENSP00000357575:p.Lys2378Arg					TTC40_ENST00000263170.5_Missense_Mutation_p.K539R	p.K2378R	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN			51	7233	-			539						Missense_Mutation	SNP	ENST00000368586.5	37	c.7133A>G	CCDS58101.1	.	.	.	.	.	.	.	.	.	.	T	3.288	-0.145674	0.06627	.	.	ENSG00000171811	ENST00000368586;ENST00000263170	T;T	0.32515	1.45;1.45	3.26	0.957	0.19613	.	0.504726	0.16086	N	0.230292	T	0.14614	0.0353	N	0.24115	0.695	0.09310	N	1	P	0.34639	0.461	B	0.28849	0.095	T	0.13335	-1.0513	10	0.28530	T	0.3	.	4.5113	0.11912	0.0:0.291:0.0:0.709	.	539	Q8IYW2	CJ092_HUMAN	R	2378;539	ENSP00000357575:K2378R;ENSP00000263170:K539R	ENSP00000263170:K539R	K	-	2	0	C10orf93	134478393	0.005000	0.15991	0.003000	0.11579	0.008000	0.06430	0.729000	0.26028	0.468000	0.27243	-0.353000	0.07706	AAG		0.567	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3			3	253	0	0	0	0.021553	0	3	253				
FER1L6	654463	broad.mit.edu	37	8	125113503	125113503	+	Silent	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr8:125113503G>A	ENST00000522917.1	+	38	5255	c.5049G>A	c.(5047-5049)aaG>aaA	p.K1683K	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.K1683K	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1683	C2 6. {ECO:0000255|PROSITE- ProRule:PRU00041}.					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)			CTTTAGAGAAGATGGAGTGTA	0.483																																						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.(5047-5049)aaG>aaA		fer-1-like 6 (C. elegans)							101.0	98.0	99.0					8																	125113503		2020	4225	6245	SO:0001819	synonymous_variant	654463					integral to membrane		g.chr8:125113503G>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.5049G>A	8.37:g.125113503G>A						FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.K1683K	p.K1683K	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		38	5255	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1683			C2 6.			Silent	SNP	ENST00000522917.1	37	c.5049G>A	CCDS43767.1																																																																																				0.483	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		5	64	0	0	0	0.014758	0	5	64				
LRRC66	339977	broad.mit.edu	37	4	52861043	52861043	+	Silent	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr4:52861043G>A	ENST00000343457.3	-	4	2151	c.2145C>T	c.(2143-2145)tcC>tcT	p.S715S		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	715						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CTGAACTTATGGAGCTCAGAG	0.527																																						ENST00000343457.3																			0				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						c.(2143-2145)tcC>tcT		leucine rich repeat containing 66							96.0	91.0	93.0					4																	52861043		2009	4189	6198	SO:0001819	synonymous_variant	339977					integral to membrane		g.chr4:52861043G>A	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.2145C>T	4.37:g.52861043G>A							p.S715S	NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN			4	2151	-			715						Silent	SNP	ENST00000343457.3	37	c.2145C>T	CCDS43229.1																																																																																				0.527	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		5	86	0	0	0	0.014758	0	5	86				
HRNR	388697	broad.mit.edu	37	1	152187050	152187050	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:152187050G>A	ENST00000368801.2	-	3	7130	c.7055C>T	c.(7054-7056)tCt>tTt	p.S2352F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2352					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)			AGTGTAACCAGAGGACTGCCA	0.567																																						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.(7054-7056)tCt>tTt		hornerin							460.0	722.0	634.0					1																	152187050		2184	4298	6482	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187050G>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.7055C>T	1.37:g.152187050G>A	ENSP00000357791:p.Ser2352Phe					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S2352F	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7130	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2352					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.7055C>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	8.393	0.840202	0.16891	.	.	ENSG00000197915	ENST00000368801	T	0.05382	3.45	3.62	3.62	0.41486	.	.	.	.	.	T	0.09555	0.0235	L	0.46157	1.445	0.09310	N	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.13229	-1.0517	9	0.39692	T	0.17	.	13.1877	0.59691	0.0:0.0:1.0:0.0	.	2352	Q86YZ3	HORN_HUMAN	F	2352	ENSP00000357791:S2352F	ENSP00000357791:S2352F	S	-	2	0	HRNR	150453674	.	.	0.019000	0.16419	0.007000	0.05969	.	.	2.017000	0.59298	0.650000	0.86243	TCT		0.567	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		19	301	0	0	0	0.006320	0	19	301				
HYDIN	54768	broad.mit.edu	37	16	71054178	71054178	+	Missense_Mutation	SNP	T	T	C	rs6416709	byFrequency	TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr16:71054178T>C	ENST00000393567.2	-	22	3379	c.3229A>G	c.(3229-3231)Ata>Gta	p.I1077V	HYDIN_ENST00000448089.2_Missense_Mutation_p.I1029V	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1077			I -> V (in dbSNP:rs6416709).		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.I1077V(3)|p.I1029V(3)		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)				ATGTTCTTTATGGCCAAGGGC	0.418													t|||	2	0.000399361	0.0	0.0029	5008	,	,		17320	0.0		0.0	False		,,,				2504	0.0					ENST00000393567.2																			6	Substitution - Missense(6)	p.I1077V(3)|p.I1029V(3)	lung(2)|prostate(2)|endometrium(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.(3229-3231)Ata>Gta		HYDIN, axonemal central pair apparatus protein							129.0	123.0	125.0					16																	71054178		1855	4094	5949	SO:0001583	missense	54768							g.chr16:71054178T>C	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.3229A>G	16.37:g.71054178T>C	ENSP00000377197:p.Ile1077Val					HYDIN_ENST00000448089.2_Missense_Mutation_p.I1029V	p.I1077V	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			22	3379	-		Ovarian(137;0.0654)	1077		I -> V (in dbSNP:rs6416709).			A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.3229A>G	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	t	6.789	0.514533	0.12944	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089	T;T	0.06371	3.31;3.31	4.61	0.358	0.16084	.	0.892413	0.09073	U	0.852581	T	0.06096	0.0158	L	0.58101	1.795	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.33059	-0.9883	10	0.18710	T	0.47	.	1.4303	0.02332	0.2901:0.0873:0.1652:0.4573	rs6416709;rs60865895	1077	F8WD23	.	V	1077;1077;1029	ENSP00000377197:I1077V;ENSP00000398544:I1029V	ENSP00000313052:I1077V	I	-	1	0	HYDIN	69611679	0.055000	0.20627	0.982000	0.44146	0.109000	0.19521	0.089000	0.15002	0.228000	0.21019	-0.676000	0.03789	ATA		0.418	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			3	37	0	0	0	0.004672	0	3	37				
MECR	51102	broad.mit.edu	37	1	29557401	29557401	+	Silent	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:29557401G>A	ENST00000263702.6	-	1	43	c.18C>T	c.(16-18)acC>acT	p.T6T	MECR_ENST00000373791.3_5'UTR|MECR_ENST00000489248.1_5'UTR			Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	6					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)		CCCGCCACAGGGTACTGCAGA	0.721																																						ENST00000263702.6																			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.(16-18)acC>acT		mitochondrial trans-2-enoyl-CoA reductase							12.0	18.0	16.0					1																	29557401		2165	4247	6412	SO:0001819	synonymous_variant	51102				fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding	g.chr1:29557401G>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.18C>T	1.37:g.29557401G>A						MECR_ENST00000373791.3_5'UTR|MECR_ENST00000489248.1_5'UTR	p.T6T			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)	1	43	-		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)	6					B3KT72|Q5SYU0|Q5SYU1|Q5SYU2|Q6IBU9|Q9Y373	Silent	SNP	ENST00000263702.6	37	c.18C>T	CCDS30659.1																																																																																				0.721	MECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130740.1	NM_016011		3	27	0	0	0	0.014758	0	3	27				
TTC7A	57217	broad.mit.edu	37	2	47300993	47300993	+	Silent	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:47300993C>T	ENST00000319190.5	+	20	2876	c.2508C>T	c.(2506-2508)ttC>ttT	p.F836F	AC073283.7_ENST00000421759.1_RNA|RP11-761B3.1_ENST00000422269.1_Intron|TTC7A_ENST00000394850.2_Silent_p.F860F|TTC7A_ENST00000263737.6_Silent_p.F482F|TTC7A_ENST00000409245.1_Silent_p.F802F|C2orf61_ENST00000464527.2_Intron	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	836					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)			TTGACTGCTTCCTCACCGCCC	0.677																																						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.(2506-2508)ttC>ttT		tetratricopeptide repeat domain 7A							52.0	46.0	48.0					2																	47300993		2203	4300	6503	SO:0001819	synonymous_variant	57217						binding	g.chr2:47300993C>T	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.2508C>T	2.37:g.47300993C>T						TTC7A_ENST00000409245.1_Silent_p.F802F|TTC7A_ENST00000394850.2_Silent_p.F860F|TTC7A_ENST00000263737.6_Silent_p.F482F|CALM2_ENST00000422269.1_Intron	p.F836F	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		20	2876	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	836					Q6PIX4|Q8ND67|Q9BUS3	Silent	SNP	ENST00000319190.5	37	c.2508C>T	CCDS33193.1																																																																																				0.677	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927		10	24	0	0	0	0.008291	0	10	24				
GOLGA2P5	55592	broad.mit.edu	37	12	100550734	100550734	+	RNA	SNP	C	C	T	rs34923288|rs557602651	byFrequency	TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr12:100550734C>T	ENST00000397112.4	-	0	2087				RN7SL176P_ENST00000580352.1_RNA|AC010203.1_ENST00000408843.1_RNA	NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						GGGGCGGGGGCCCCTGGAGTG	0.642																																						ENST00000397112.4																			0				large_intestine(1)|lung(3)	4															25.0	30.0	28.0					12																	100550734		2203	4300	6503			55592							g.chr12:100550734C>T																													12.37:g.100550734C>T								NR_036632.1						0	2087	-								Q9NSV2	RNA	SNP	ENST00000397112.4	37																																																																																						0.642	GOLGA2B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000396439.2			4	30	0	0	0	0.014758	0	4	30				
POLQ	10721	broad.mit.edu	37	3	121206399	121206399	+	Silent	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr3:121206399G>A	ENST00000264233.5	-	16	5507	c.5379C>T	c.(5377-5379)ttC>ttT	p.F1793F		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1793					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)		TGTTGTCTTTGAACCCATTTC	0.378								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.(5377-5379)ttC>ttT	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							110.0	108.0	109.0					3																	121206399		2203	4300	6503	SO:0001819	synonymous_variant	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.chr3:121206399G>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.5379C>T	3.37:g.121206399G>A							p.F1793F	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	5507	-			1793					O95160|Q6VMB5	Silent	SNP	ENST00000264233.5	37	c.5379C>T	CCDS33833.1																																																																																				0.378	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		9	107	0	0	0	0.006214	0	9	107				
EMR1	2015	broad.mit.edu	37	19	6919744	6919744	+	Silent	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr19:6919744C>T	ENST00000312053.4	+	13	1643	c.1606C>T	c.(1606-1608)Ctg>Ttg	p.L536L	EMR1_ENST00000250572.8_Silent_p.L536L|EMR1_ENST00000381404.4_Silent_p.L484L|EMR1_ENST00000381407.5_Silent_p.L395L|EMR1_ENST00000450315.3_Silent_p.L359L	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	536	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)					CATCTACACTCTGGAGAACAT	0.458																																						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.(1606-1608)Ctg>Ttg		egf-like module containing, mucin-like, hormone receptor-like 1							76.0	69.0	72.0					19																	6919744		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.chr19:6919744C>T	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.1606C>T	19.37:g.6919744C>T						EMR1_ENST00000450315.3_Silent_p.L359L|EMR1_ENST00000381407.5_Silent_p.L395L|EMR1_ENST00000381404.4_Silent_p.L484L|EMR1_ENST00000250572.8_Silent_p.L536L	p.L536L	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN			13	1643	+	all_hematologic(4;0.166)		536			Ser/Thr-rich.		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Silent	SNP	ENST00000312053.4	37	c.1606C>T	CCDS12175.1																																																																																				0.458	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			7	61	0	0	0	0.004482	0	7	61				
SORCS3	22986	broad.mit.edu	37	10	106899161	106899161	+	Missense_Mutation	SNP	A	A	C	rs562609185		TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr10:106899161A>C	ENST00000369701.3	+	8	1446	c.1219A>C	c.(1219-1221)Act>Cct	p.T407P		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	407					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)		CTAGGTAACAACTAGTGGAAG	0.458																																					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.(1219-1221)Act>Cct		sortilin-related VPS10 domain containing receptor 3							178.0	164.0	169.0					10																	106899161		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106899161A>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.1219A>C	10.37:g.106899161A>C	ENSP00000358715:p.Thr407Pro						p.T407P	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)	8	1446	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	407					Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.1219A>C	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	A	12.35	1.913016	0.33815	.	.	ENSG00000156395	ENST00000369701	T	0.32988	1.43	5.79	3.17	0.36434	VPS10 (1);	0.415792	0.26369	N	0.024773	T	0.23965	0.0580	L	0.53249	1.67	0.09310	N	1	B	0.29341	0.242	B	0.23716	0.048	T	0.16867	-1.0388	10	0.45353	T	0.12	.	5.4913	0.16777	0.55:0.0:0.1042:0.3458	.	407	Q9UPU3	SORC3_HUMAN	P	407	ENSP00000358715:T407P	ENSP00000358715:T407P	T	+	1	0	SORCS3	106889151	0.001000	0.12720	0.989000	0.46669	0.961000	0.63080	1.583000	0.36579	0.992000	0.38840	0.533000	0.62120	ACT		0.458	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		10	91	0	0	0	0.008291	0	10	91				
MTFP1	51537	broad.mit.edu	37	22	30824464	30824464	+	Silent	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr22:30824464C>T	ENST00000266263.5	+	4	794	c.444C>T	c.(442-444)ctC>ctT	p.L148L	MTFP1_ENST00000355143.4_Missense_Mutation_p.P71S|RP4-539M6.19_ENST00000439838.1_Silent_p.L320L|MTFP1_ENST00000407550.3_Silent_p.L125L	NM_016498.4	NP_057582.2	Q9UDX5	MTFP1_HUMAN	mitochondrial fission process 1	148					apoptotic process (GO:0006915)|mitochondrial fission (GO:0000266)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(1)|large_intestine(1)|lung(2)	4						TGGATTTCCTCCTGGACTCCA	0.587																																						ENST00000355143.4																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(211-213)Cct>Tct		mitochondrial fission process 1							78.0	71.0	73.0					22																	30824464		2203	4300	6503	SO:0001819	synonymous_variant	51537							g.chr22:30824464C>T	AF151076	CCDS33634.1, CCDS33635.1	22q	2010-09-02			ENSG00000242114	ENSG00000242114			26945	protein-coding gene	gene with protein product		610235				15155745, 15985469	Standard	NM_016498		Approved	MTP18, HSPC242		Q9UDX5	OTTHUMG00000151057	ENST00000266263.5:c.444C>T	22.37:g.30824464C>T						MTFP1_ENST00000266263.5_Silent_p.L148L|RP4-539M6.19_ENST00000439838.1_Silent_p.L320L|MTFP1_ENST00000407550.3_Silent_p.L125L	p.P71S	NM_001003704.2	NP_001003704.1					3	315	+								A6NFQ5|Q9H3K1|Q9P0N6	Missense_Mutation	SNP	ENST00000266263.5	37	c.211C>T	CCDS33635.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.800242	0.50208	.	.	ENSG00000249590;ENSG00000242114	ENST00000439023;ENST00000355143	.	.	.	5.21	-0.393	0.12438	.	.	.	.	.	T	0.57799	0.2078	.	.	.	0.80722	D	1	P	0.38078	0.617	B	0.37144	0.242	T	0.66666	-0.5866	7	0.59425	D	0.04	-18.704	18.8814	0.92357	0.0:0.222:0.778:0.0	.	71	Q9UDX5-2	.	S	55;71	.	ENSP00000347267:P71S	P	+	1	0	MTFP1;RP4-539M6.19	29154464	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	1.583000	0.36579	0.243000	0.21327	-0.175000	0.13238	CCT		0.587	MTFP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321126.3	NM_016498		10	35	0	0	0	0.008291	0	10	35				
ZNF536	9745	broad.mit.edu	37	19	31039805	31039805	+	Silent	SNP	C	C	T	rs147863190		TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr19:31039805C>T	ENST00000355537.3	+	4	3426	c.3279C>T	c.(3277-3279)agC>agT	p.S1093S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1093					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.S1093S(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)					AGCAGAAGAGCGGTGCATGGA	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		18334	0.001		0.0	False		,,,				2504	0.0					ENST00000355537.3																			1	Substitution - coding silent(1)	p.S1093S(1)	large_intestine(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.(3277-3279)agC>agT		zinc finger protein 536		C		0,4406		0,0,2203	75.0	85.0	81.0		3279	-4.1	0.0	19	dbSNP_134	81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF536	NM_014717.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1093/1301	31039805	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039805C>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.3279C>T	19.37:g.31039805C>T							p.S1093S	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			4	3426	+	Esophageal squamous(110;0.0834)		1093					A2RU18	Silent	SNP	ENST00000355537.3	37	c.3279C>T	CCDS32984.1																																																																																				0.537	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		11	39	0	0	0	0.013537	0	11	39				
VPS41	27072	broad.mit.edu	37	7	38796567	38796567	+	Silent	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr7:38796567C>T	ENST00000310301.4	-	19	1620	c.1566G>A	c.(1564-1566)aaG>aaA	p.K522K	VPS41_ENST00000395969.2_Silent_p.K497K	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	522					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)	p.K522N(1)		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						TGCCATAGTTCTTGTCATAGG	0.299																																						ENST00000310301.4																			1	Substitution - Missense(1)	p.K522N(1)	breast(1)	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.(1564-1566)aaG>aaA		vacuolar protein sorting 41 homolog (S. cerevisiae)							104.0	107.0	106.0					7																	38796567		2202	4296	6498	SO:0001819	synonymous_variant	27072				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	g.chr7:38796567C>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.1566G>A	7.37:g.38796567C>T						VPS41_ENST00000395969.2_Silent_p.K497K	p.K522K	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN			19	1620	-			522					E9PF36|Q86TP8|Q99851|Q99852	Silent	SNP	ENST00000310301.4	37	c.1566G>A	CCDS5457.1																																																																																				0.299	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3			7	48	0	0	0	0.004482	0	7	48				
TNNT1	7138	broad.mit.edu	37	19	55652591	55652591	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr19:55652591T>G	ENST00000588981.1	-	8	476	c.272A>C	c.(271-273)aAg>aCg	p.K91T	TNNT1_ENST00000587465.2_Missense_Mutation_p.K21T|TNNT1_ENST00000592920.1_5'UTR|TNNT1_ENST00000585321.2_Missense_Mutation_p.K21T|TNNT1_ENST00000587758.1_Missense_Mutation_p.K80T|TNNT1_ENST00000356783.5_Missense_Mutation_p.K80T|TNNT1_ENST00000588426.1_Intron|TNNT1_ENST00000536926.1_Missense_Mutation_p.K80T|TNNT1_ENST00000291901.8_Missense_Mutation_p.K91T	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	91					muscle filament sliding (GO:0030049)|negative regulation of muscle contraction (GO:0045932)|skeletal muscle contraction (GO:0003009)|slow-twitch skeletal muscle fiber contraction (GO:0031444)	cytosol (GO:0005829)|troponin complex (GO:0005861)	tropomyosin binding (GO:0005523)			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		CTCTTCCTCCTTCTTCCGCTG	0.592											OREG0025677	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000588981.1																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)	10						c.(271-273)aAg>aCg		troponin T type 1 (skeletal, slow)							127.0	95.0	106.0					19																	55652591		2203	4300	6503	SO:0001583	missense	7138				muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding	g.chr19:55652591T>G		CCDS12917.1, CCDS46185.1, CCDS59421.1	19q13.4	2014-09-17	2005-09-12			ENSG00000105048			11948	protein-coding gene	gene with protein product	"""slow skeletal muscle troponin T"", ""troponin T1, skeletal, slow"", ""nemaline myopathy type 5"""	191041	"""troponin T1, skeletal, slow"""			1505979	Standard	XM_006723343		Approved	ANM, STNT, TNT, TNTS, FLJ98147, MGC104241, NEM5	uc002qjb.4	P13805		ENST00000588981.1:c.272A>C	19.37:g.55652591T>G	ENSP00000467176:p.Lys91Thr		OREG0025677	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1009	TNNT1_ENST00000588426.1_Intron|TNNT1_ENST00000291901.8_Missense_Mutation_p.K91T|TNNT1_ENST00000536926.1_Missense_Mutation_p.K80T|TNNT1_ENST00000592920.1_5'UTR|TNNT1_ENST00000587758.1_Missense_Mutation_p.K80T|TNNT1_ENST00000356783.5_Missense_Mutation_p.K80T|TNNT1_ENST00000587465.2_Missense_Mutation_p.K21T|TNNT1_ENST00000585321.2_Missense_Mutation_p.K21T	p.K91T	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)	8	476	-			91					O95472|Q16061|Q5U0E1	Missense_Mutation	SNP	ENST00000588981.1	37	c.272A>C	CCDS12917.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.006330	0.74932	.	.	ENSG00000105048	ENST00000291901;ENST00000356783;ENST00000536926;ENST00000537693;ENST00000429737	D;D;D	0.93859	-3.3;-3.3;-3.3	4.12	3.1	0.35709	.	0.280955	0.37304	N	0.002145	D	0.96318	0.8799	M	0.92026	3.265	0.58432	D	0.999999	P;D;D;D;D	0.69078	0.951;0.996;0.976;0.997;0.996	P;P;P;D;P	0.64776	0.772;0.9;0.784;0.929;0.9	D	0.95075	0.8208	10	0.87932	D	0	-3.229	7.4935	0.27475	0.0:0.1073:0.0:0.8927	.	91;80;91;91;80	Q56R94;P13805-2;P13805-3;P13805;F5H1H4	.;.;.;TNNT1_HUMAN;.	T	91;80;80;21;106	ENSP00000291901:K91T;ENSP00000349233:K80T;ENSP00000439640:K80T	ENSP00000291901:K91T	K	-	2	0	TNNT1	60344403	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	4.584000	0.60971	0.586000	0.29626	0.418000	0.28097	AAG		0.592	TNNT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451825.2	NM_003283		9	50	0	0	0	0.004482	0	9	50				
AKNAD1	254268	broad.mit.edu	37	1	109366241	109366241	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:109366241C>T	ENST00000370001.3	-	12	2274	c.2006G>A	c.(2005-2007)tGt>tAt	p.C669Y	AKNAD1_ENST00000369995.3_Missense_Mutation_p.C669Y|AKNAD1_ENST00000369994.1_Missense_Mutation_p.C639Y|AKNAD1_ENST00000357393.4_Missense_Mutation_p.C376Y	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	669						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						CTTAGTGCCACAGTCCTGACA	0.488																																						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.(2005-2007)tGt>tAt		AKNA domain containing 1							137.0	117.0	124.0					1																	109366241		2203	4300	6503	SO:0001583	missense	254268							g.chr1:109366241C>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.2006G>A	1.37:g.109366241C>T	ENSP00000359018:p.Cys669Tyr					AKNAD1_ENST00000369994.1_Missense_Mutation_p.C639Y|AKNAD1_ENST00000357393.4_Missense_Mutation_p.C376Y|AKNAD1_ENST00000369995.3_Missense_Mutation_p.C669Y	p.C669Y	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN			12	2274	-			669					B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	c.2006G>A	CCDS791.2	.	.	.	.	.	.	.	.	.	.	C	8.556	0.876572	0.17395	.	.	ENSG00000162641	ENST00000370001;ENST00000357393;ENST00000369994;ENST00000369995	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	5.2	3.32	0.38043	.	0.603799	0.15186	N	0.275811	T	0.04543	0.0124	N	0.14661	0.345	0.09310	N	1	B;B	0.28636	0.218;0.031	B;B	0.25884	0.064;0.021	T	0.35226	-0.9797	10	0.31617	T	0.26	-0.3939	7.1984	0.25866	0.0:0.7984:0.0:0.2016	.	376;669	B4DET8;Q5T1N1	.;AKND1_HUMAN	Y	669;376;639;669	ENSP00000359018:C669Y;ENSP00000349968:C376Y;ENSP00000359011:C639Y;ENSP00000359012:C669Y	ENSP00000349968:C376Y	C	-	2	0	AKNAD1	109167764	0.000000	0.05858	0.001000	0.08648	0.044000	0.14063	0.796000	0.26986	0.756000	0.33013	0.561000	0.74099	TGT		0.488	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		10	55	0	0	0	0.013537	0	10	55				
C7orf25	79020	broad.mit.edu	37	7	42950074	42950074	+	Silent	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr7:42950074G>A	ENST00000350427.4	-	2	701	c.426C>T	c.(424-426)atC>atT	p.I142I	PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000438029.1_Silent_p.I142I|C7orf25_ENST00000447342.1_Silent_p.I142I|C7orf25_ENST00000431882.2_Silent_p.I200I			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	142										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						CCTGCTCAATGATGCTTTTGT	0.507																																						ENST00000350427.4																			0				endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						c.(424-426)atC>atT		chromosome 7 open reading frame 25							103.0	95.0	97.0					7																	42950074		2203	4300	6503	SO:0001819	synonymous_variant	79020							g.chr7:42950074G>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.426C>T	7.37:g.42950074G>A						C7orf25_ENST00000447342.1_Silent_p.I142I|C7orf25_ENST00000431882.2_Silent_p.I200I|C7orf25_ENST00000438029.1_Silent_p.I142I|PSMA2_ENST00000442788.1_3'UTR	p.I142I			Q9BPX7	CG025_HUMAN			2	701	-			142					A4D1V2|J3KR36|Q9H779	Silent	SNP	ENST00000350427.4	37	c.426C>T	CCDS5466.1																																																																																				0.507	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250814.2	NM_024054		7	101	0	0	0	0.001984	0	7	101				
DBI	1622	broad.mit.edu	37	2	120125495	120125495	+	Intron	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:120125495G>A	ENST00000355857.3	+	2	140				C2orf76_ENST00000409523.1_5'Flank|C2orf76_ENST00000498049.1_5'Flank|DBI_ENST00000542275.1_Intron|C2orf76_ENST00000334816.7_5'Flank|DBI_ENST00000535617.1_Intron|C2orf76_ENST00000409877.1_5'Flank|DBI_ENST00000311521.4_Intron|DBI_ENST00000409094.1_Intron|DBI_ENST00000460901.1_Intron|DBI_ENST00000393103.2_De_novo_Start_InFrame|DBI_ENST00000535757.1_Intron|C2orf76_ENST00000409466.2_5'Flank	NM_001079862.1|NM_001178043.1	NP_001073331.1|NP_001171514.1	P07108	ACBP_HUMAN	diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)						hair follicle development (GO:0001942)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|transport (GO:0006810)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear endoplasmic reticulum (GO:0097038)	benzodiazepine receptor binding (GO:0030156)|lipid binding (GO:0008289)|long-chain fatty acyl-CoA binding (GO:0036042)|protein dimerization activity (GO:0046983)			kidney(1)|lung(4)|skin(1)	6						ttccagacctgatgcctgcgt	0.572																																						ENST00000393103.2																			0				kidney(1)|lung(4)|skin(1)	6								diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)							156.0	151.0	153.0					2																	120125495		1985	4184	6169	SO:0001627	intron_variant	1622				transport		benzodiazepine receptor binding|fatty-acyl-CoA binding	g.chr2:120125495G>A	L76366	CCDS2126.1, CCDS42740.1, CCDS42741.1, CCDS74568.1	2q12-q21	2010-10-20	2010-04-30		ENSG00000155368	ENSG00000155368			2690	protein-coding gene	gene with protein product	"""endozepine"""	125950	"""diazepam binding inhibitor (GABA receptor modulator, acyl-Coenzyme A binding protein)"""			1440058	Standard	NM_001079863		Approved	ACBP, ACBD1	uc021vnj.1	P07108	OTTHUMG00000131403	ENST00000355857.3:c.10-269G>A	2.37:g.120125495G>A						DBI_ENST00000311521.4_Intron|DBI_ENST00000535757.1_Intron|DBI_ENST00000460901.1_Intron|DBI_ENST00000542275.1_Intron|DBI_ENST00000409094.1_Intron|DBI_ENST00000535617.1_Intron|DBI_ENST00000355857.3_Intron		NM_001079863.1	NP_001073332.1	P07108	ACBP_HUMAN			0	243	+								B8ZWD2|B8ZWD6|B8ZWD7|P08869|Q4VWZ6|Q53SQ7|Q6IB48|Q9UCI8	Translation_Start_Site	SNP	ENST00000355857.3	37		CCDS42740.1																																																																																				0.572	DBI-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330590.1	NM_020548		12	107	0	0	0	0.020292	0	12	107				
OR2J2	26707	broad.mit.edu	37	6	29141562	29141562	+	Silent	SNP	A	A	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr6:29141562A>T	ENST00000377167.2	+	1	252	c.150A>T	c.(148-150)tcA>tcT	p.S50S		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	50						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)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TCATCCTGTCATACGTGGACT	0.453																																						ENST00000377167.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						c.(148-150)tcA>tcT		olfactory receptor, family 2, subfamily J, member 2							172.0	163.0	166.0					6																	29141562		2032	4224	6256	SO:0001819	synonymous_variant	26707				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29141562A>T		CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"""GPCR / Class A : Olfactory receptors"""	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.150A>T	6.37:g.29141562A>T							p.S50S	NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN			1	252	+			50					A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Silent	SNP	ENST00000377167.2	37	c.150A>T	CCDS43434.1																																																																																				0.453	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2			6	288	0	0	0	0.001984	0	6	288				
GOLGB1	2804	broad.mit.edu	37	3	121410866	121410866	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr3:121410866T>C	ENST00000340645.5	-	14	7455	c.7330A>G	c.(7330-7332)Aca>Gca	p.T2444A	GOLGB1_ENST00000393667.3_Missense_Mutation_p.T2449A	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2444					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)		GTTTTCAGTGTTTCCATAAGC	0.393																																						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.(7345-7347)Aca>Gca		golgin B1							166.0	164.0	165.0					3																	121410866		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121410866T>C	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.7330A>G	3.37:g.121410866T>C	ENSP00000341848:p.Thr2444Ala					GOLGB1_ENST00000340645.5_Missense_Mutation_p.T2444A	p.T2449A	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	14	7455	-			2444					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.7345A>G	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	T	2.432	-0.330685	0.05314	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.13657	2.57;2.57	5.79	-2.68	0.06041	.	0.829749	0.10833	N	0.629070	T	0.03053	0.0090	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.13407	0.004;0.004;0.009	T	0.43718	-0.9374	10	0.07813	T	0.8	.	2.0574	0.03584	0.1241:0.312:0.1276:0.4364	.	2449;2449;2444	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	A	2444;2449	ENSP00000341848:T2444A;ENSP00000377275:T2449A	ENSP00000341848:T2444A	T	-	1	0	GOLGB1	122893556	0.460000	0.25776	0.796000	0.32109	0.534000	0.34807	0.473000	0.22132	-0.095000	0.12351	0.460000	0.39030	ACA		0.393	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		21	128	0	0	0	0.012319	0	21	128				
USH2A	7399	broad.mit.edu	37	1	216017746	216017746	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:216017746C>T	ENST00000307340.3	-	46	9534	c.9148G>A	c.(9148-9150)Gtc>Atc	p.V3050I	USH2A_ENST00000366943.2_Missense_Mutation_p.V3050I	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3050	Fibronectin type-III 17. {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)		TACTCAGTGACAACACCATTT	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.(9148-9150)Gtc>Atc		Usher syndrome 2A (autosomal recessive, mild)							94.0	96.0	96.0					1																	216017746		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.chr1:216017746C>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.9148G>A	1.37:g.216017746C>T	ENSP00000305941:p.Val3050Ile	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.V3050I	p.V3050I			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	46	9534	-			3050			Fibronectin type-III 17.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.9148G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068297	0.36470	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.46819	0.86;0.86	6.04	5.12	0.69794	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.187104	0.25416	N	0.030822	T	0.24084	0.0583	N	0.11927	0.2	0.50039	D	0.999849	P	0.41475	0.751	B	0.32677	0.15	T	0.21965	-1.0230	10	0.02654	T	1	.	15.7629	0.78101	0.0:0.9342:0.0:0.0658	.	3050	O75445	USH2A_HUMAN	I	3050	ENSP00000305941:V3050I;ENSP00000355910:V3050I	ENSP00000305941:V3050I	V	-	1	0	USH2A	214084369	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	4.272000	0.58908	1.546000	0.49388	0.650000	0.86243	GTC		0.433	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		7	61	0	0	0	0.006214	0	7	61				
WBP11	51729	broad.mit.edu	37	12	14949890	14949890	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr12:14949890C>G	ENST00000261167.2	-	5	471	c.238G>C	c.(238-240)Gac>Cac	p.D80H		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	80					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						TTACGCTTGTCTTTCAGTACT	0.343																																						ENST00000261167.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						c.(238-240)Gac>Cac		WW domain binding protein 11							108.0	101.0	104.0					12																	14949890		2203	4299	6502	SO:0001583	missense	51729				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	g.chr12:14949890C>G	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.238G>C	12.37:g.14949890C>G	ENSP00000261167:p.Asp80His					WBP11_ENST00000537574.1_Missense_Mutation_p.D80H	p.D80H	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN			5	471	-			80					Q96AY8	Missense_Mutation	SNP	ENST00000261167.2	37	c.238G>C	CCDS8666.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413245	0.83449	.	.	ENSG00000084463	ENST00000261167;ENST00000537574	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.74268	0.3694	L	0.47190	1.495	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73842	-0.3855	9	0.49607	T	0.09	-7.7118	17.0292	0.86456	0.0:1.0:0.0:0.0	.	80	Q9Y2W2	WBP11_HUMAN	H	80	.	ENSP00000261167:D80H	D	-	1	0	WBP11	14841157	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.579000	0.82511	2.635000	0.89317	0.650000	0.86243	GAC		0.343	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312		27	37	0	0	0	0.010818	0	27	37				
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs2684618	byFrequency	TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr17:43587576A>G	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		tctgaaaagaaaagaaaaaaa	0.428													A|||	308	0.0615016	0.0204	0.0548	5008	,	,		16882	0.0685		0.1113	False		,,,				2504	0.0634					ENST00000253803.2																			0																																																			100294341							g.chr17:43587576A>G	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587576A>G						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.428	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	53	0	0	0	0.009096	0	4	53				
DUOX1	53905	broad.mit.edu	37	15	45445673	45445673	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr15:45445673G>A	ENST00000321429.4	+	27	3927	c.3520G>A	c.(3520-3522)Gat>Aat	p.D1174N	DUOX1_ENST00000561166.1_Missense_Mutation_p.D820N|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000559221.1_3'UTR|DUOX1_ENST00000389037.3_Missense_Mutation_p.D1174N	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1174	Ferric oxidoreductase.|Interaction with TXNDC11. {ECO:0000250}.				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)		CTTCCATGATGATGGGTGAGT	0.507																																						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.(3520-3522)Gat>Aat		dual oxidase 1							237.0	175.0	196.0					15																	45445673		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.chr15:45445673G>A	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.3520G>A	15.37:g.45445673G>A	ENSP00000317997:p.Asp1174Asn					CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Missense_Mutation_p.D820N|DUOX1_ENST00000389037.3_Missense_Mutation_p.D1174N|DUOX1_ENST00000559221.1_3'UTR	p.D1174N	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)	27	3927	+		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)	1174			Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	c.3520G>A	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.609277	0.28623	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.85702	-2.02;-2.02	4.88	-1.51	0.08664	Flavoprotein transmembrane component (1);	0.352984	0.35124	N	0.003424	T	0.70928	0.3280	N	0.25094	0.71	0.21861	N	0.999502	B	0.14012	0.009	B	0.20384	0.029	T	0.56038	-0.8045	10	0.27082	T	0.32	-1.2152	9.3648	0.38217	0.5053:0.0:0.4947:0.0	.	1174	Q9NRD9	DUOX1_HUMAN	N	1174	ENSP00000317997:D1174N;ENSP00000373689:D1174N	ENSP00000317997:D1174N	D	+	1	0	DUOX1	43232965	0.992000	0.36948	0.000000	0.03702	0.120000	0.20174	2.324000	0.43831	-0.357000	0.08175	-0.142000	0.14014	GAT		0.507	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		18	106	0	0	0	0.006122	0	18	106				
TMEM131	23505	broad.mit.edu	37	2	98427639	98427639	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:98427639delT	ENST00000186436.5	-	18	2148	c.1920delA	c.(1918-1920)aaafs	p.K640fs		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	640						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						TCCCCTCTAATTTTTTTGCAG	0.393																																						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.(1918-1920)aafs		transmembrane protein 131							277.0	265.0	269.0					2																	98427639		1831	4095	5926	SO:0001589	frameshift_variant	23505					integral to membrane		g.chr2:98427639delT	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.1920delA	2.37:g.98427639delT	ENSP00000186436:p.Lys640fs						p.K640fs	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			18	2148	-			640						Frame_Shift_Del	DEL	ENST00000186436.5	37	c.1920delA	CCDS46368.1																																																																																				0.393	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		11	1146						11	1146	---	---	---	---
ZFR	51663	broad.mit.edu	37	5	32407005	32407025	+	In_Frame_Del	DEL	GGCAGCTGTTGCAGCAGCAGC	GGCAGCTGTTGCAGCAGCAGC	-			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr5:32407005_32407025delGGCAGCTGTTGCAGCAGCAGC	ENST00000265069.8	-	6	988_1008	c.886_906delGCTGCTGCTGCAACAGCTGCC	c.(886-906)gctgctgctgcaacagctgccdel	p.AAAATAA296del		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	296	Ala-rich.				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)		TCCCTGTCCAGGCAgctgttgcagcagcagcagcagctgct	0.466																																						ENST00000265069.8																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(886-906)del		zinc finger RNA binding protein																																				SO:0001651	inframe_deletion	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32407005_32407025delGGCAGCTGTTGCAGCAGCAGC	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.886_906delGCTGCTGCTGCAACAGCTGCC	5.37:g.32407005_32407025delGGCAGCTGTTGCAGCAGCAGC	ENSP00000265069:p.Ala296_Ala302del						p.AAAATAA296del	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	6	988_1008	-			296			Ala-rich.		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	In_Frame_Del	DEL	ENST00000265069.8	37	c.886_906delGCTGCTGCTGCAACAGCTGCC	CCDS34139.1																																																																																				0.466	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			8	51						8	51	---	---	---	---
E2F5	1875	broad.mit.edu	37	8	86129664	86129664	+	IGR	DEL	T	T	-			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr8:86129664delT	ENST00000416274.2	+	0	1728				C8orf59_ENST00000421308.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518091.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000417663.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000524353.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000545322.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518562.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000431163.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000321777.5_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000458398.2_Frame_Shift_Del_p.N22fs	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						AGCCTTAAAGTTTTTTTGGCT	0.343																																						ENST00000417663.2																			0											c.(64-66)acfs		chromosome 8 open reading frame 59							196.0	178.0	184.0					8																	86129664		1818	4077	5895	SO:0001628	intergenic_variant	401466							g.chr8:86129664delT	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.86129664delT						C8orf59_ENST00000518562.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000458398.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518091.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000545322.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000431163.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000421308.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000321777.5_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000524353.1_Frame_Shift_Del_p.N22fs	p.N22fs	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	136	-			22					E9PBN9|Q16601|Q92756	Frame_Shift_Del	DEL	ENST00000416274.2	37	c.65delA	CCDS47885.1																																																																																				0.343	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380274.1	NM_001951		7	207						7	207	---	---	---	---
MAMDC4	158056	broad.mit.edu	37	9	139753544	139753545	+	Frame_Shift_Ins	INS	-	-	G	rs142983311		TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr9:139753544_139753545insG	ENST00000317446.2	+	24	3094_3095	c.3044_3045insG	c.(3043-3048)ctggagfs	p.E1016fs	MAMDC4_ENST00000445819.1_Frame_Shift_Ins_p.E1095fs|MAMDC4_ENST00000485732.1_3'UTR	NM_206920.2	NP_996803.2			MAM domain containing 4											breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CACCAGTGGCTGGAGGCCCAGG	0.668																																						ENST00000445819.1																			0				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19						c.(3280-3282)cgafs		MAM domain containing 4																																				SO:0001589	frameshift_variant	158056				protein transport	integral to membrane		g.chr9:139753544_139753545insG	AL834531	CCDS7010.1	9q34.3	2013-10-21			ENSG00000177943	ENSG00000177943			24083	protein-coding gene	gene with protein product	"""apical early endosomal glycoprotein precursor"", ""endotubin"""					7829488	Standard	NM_206920		Approved	AEGP, DKFZp434M1411	uc004cjs.3	Q6UXC1	OTTHUMG00000020951	ENST00000317446.2:c.3046dupG	9.37:g.139753546_139753546dupG	ENSP00000319388:p.Glu1016fs					MAMDC4_ENST00000317446.2_Frame_Shift_Ins_p.R1015fs|MAMDC4_ENST00000485732.1_3'UTR	p.R1094fs			Q6UXC1	AEGP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	26	3331_3332	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	1094			MAM 6.			Frame_Shift_Ins	INS	ENST00000317446.2	37	c.3281_3282insG	CCDS7010.1																																																																																				0.668	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254642.3	NM_206920		2	4						2	4	---	---	---	---
TAF10	6881	broad.mit.edu	37	11	6633269	6633269	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr11:6633269delC	ENST00000299424.4	-	1	629	c.152delG	c.(151-153)ggafs	p.G51fs	TAF10_ENST00000531760.1_Intron|RP11-732A19.2_ENST00000527398.1_RNA	NM_006284.3	NP_006275.1	Q12962	TAF10_HUMAN	TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa	51					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|protein homooligomerization (GO:0051260)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|perinuclear region of cytoplasm (GO:0048471)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|RNA polymerase binding (GO:0070063)|transcription coactivator activity (GO:0003713)						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGCCCCAGGTCCCCCCGCTGT	0.816																																						ENST00000299424.4																			0											c.(151-153)gafs		TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa							2.0	2.0	2.0					11																	6633269		1139	2768	3907	SO:0001589	frameshift_variant	6881				histone deubiquitination|histone H3 acetylation|protein homooligomerization|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	PCAF complex|perinuclear region of cytoplasm|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	estrogen receptor binding|RNA polymerase binding|transcription coactivator activity	g.chr11:6633269delC	U13991, U25816	CCDS7769.1	11p15.5-p15.2	2006-11-14	2002-08-29	2001-12-07	ENSG00000166337	ENSG00000166337			11543	protein-coding gene	gene with protein product		600475	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, H, 30kD"""	TAF2H, TAF2A		7923369	Standard	NM_006284		Approved	TAFII30	uc001mej.2	Q12962	OTTHUMG00000133402	ENST00000299424.4:c.152delG	11.37:g.6633269delC	ENSP00000299424:p.Gly51fs					TAF10_ENST00000531760.1_Intron	p.G51fs	NM_006284.3	NP_006275.1	Q12962	TAF10_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	629	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)	51					O00703|Q13175|Q6FH13	Frame_Shift_Del	DEL	ENST00000299424.4	37	c.152delG	CCDS7769.1																																																																																				0.816	TAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257259.2	NM_006284		2	4						2	4	---	---	---	---
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG	rs375560921|rs201773491	byFrequency	TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282							Q5T6R2	TPT2L_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1																		AGGAAGGTTCTAAAAAAAATTT	0.252														9	0.00179712	0.0008	0.0014	5008	,	,		20326	0.004		0.003	False		,,,				2504	0.0					ENST00000429698.1																			0																																																			646405							g.chr13:25527490_25527491insAAAAAG			13q12.12-q12.13	2012-10-03			ENSG00000253771	ENSG00000253771			35196	pseudogene	pseudogene							Standard	NR_026730		Approved		uc010tdh.2	Q5T6R2	OTTHUMG00000016596		13.37:g.25527490_25527491insAAAAAG														0	282	-								B3KST4|B4DMH9	RNA	INS	ENST00000429698.1	37																																																																																						0.252	TPTE2P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044206.1			4	6						4	6	---	---	---	---
EMC4	51234	broad.mit.edu	37	15	34522006	34522007	+	3'UTR	INS	-	-	CGG	rs570454252		TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr15:34522006_34522007insCGG	ENST00000267750.4	+	0	685_686				EMC4_ENST00000559421.1_3'UTR|EMC4_ENST00000249209.4_In_Frame_Ins_p.136_137insR	NM_016454.2	NP_057538.1	Q5J8M3	EMC4_HUMAN	ER membrane protein complex subunit 4						apoptotic process (GO:0006915)	ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											GAAAGCAGCGCCTGGTCCCTAT	0.396																																						ENST00000249209.4																			0											c.(406-411)cgtggt>cgCGGtggt		ER membrane protein complex subunit 4																																				SO:0001624	3_prime_UTR_variant	51234							g.chr15:34522006_34522007insCGG	BC016348	CCDS10035.1, CCDS66732.1	15q14	2012-05-23	2012-05-23	2012-05-23	ENSG00000128463	ENSG00000128463			28032	protein-coding gene	gene with protein product			"""transmembrane protein 85"""	TMEM85		18586032, 22119785	Standard	NM_001286420		Approved	FLJ90746, MGC24415, PIG17	uc001zhq.3	Q5J8M3	OTTHUMG00000129411	ENST00000267750.4:c.*18->CGG	15.37:g.34522006_34522007insCGG						EMC4_ENST00000559421.1_3'UTR|EMC4_ENST00000267750.4_3'UTR	p.137_138insG							4	510_511	+								A8K3A9|B4DJQ4|Q96KX9|Q9BUI5|Q9P0T9	In_Frame_Ins	INS	ENST00000267750.4	37	c.408_409insCGG	CCDS10035.1																																																																																				0.396	EMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251568.1	NM_016454		7	63						7	63	---	---	---	---
KCNG2	26251	broad.mit.edu	37	18	77623691	77623692	+	In_Frame_Ins	INS	-	-	GGC	rs71338073	byFrequency	TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr18:77623691_77623692insGGC	ENST00000316249.3	+	1	24_25	c.24_25insGGC	c.(25-27)ggc>GGCggc	p.9_9G>GG		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	9	Poly-Gly.				energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.P8_G9insG(2)		breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCTGCTccccgggcggcggcgg	0.772														1448	0.289137	0.0772	0.3199	5008	,	,		6733	0.3968		0.4165	False		,,,				2504	0.3119					ENST00000316249.3																			2	Insertion - In frame(2)	p.P8_G9insG(2)	upper_aerodigestive_tract(2)	breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18						c.(22-27)ccgcgg>ccGGCgcgg		potassium voltage-gated channel, subfamily G, member 2																																				SO:0001652	inframe_insertion	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77623691_77623692insGGC	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.34_36dupGGC	18.37:g.77623698_77623700dupGGC	ENSP00000315654:p.Gly13dup						p.8_9PR>PAR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	1	24_25	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	8						In_Frame_Ins	INS	ENST00000316249.3	37	c.24_25insGGC	CCDS12019.1																																																																																				0.772	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		4	5						4	5	---	---	---	---
DPM1	8813	broad.mit.edu	37	20	49575960	49575962	+	5'Flank	DEL	TGC	TGC	-			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr20:49575960_49575962delTGC	ENST00000371588.5	-	0	0				DPM1_ENST00000371582.4_5'Flank|DPM1_ENST00000371583.5_5'Flank|DPM1_ENST00000466152.1_5'Flank|MOCS3_ENST00000244051.1_In_Frame_Del_p.L195del	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit						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						GACGCATGTGTGCTGGCGGGTCG	0.596																																						ENST00000244051.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						c.(580-585)gtg>g		molybdenum cofactor synthesis 3																																				SO:0001631	upstream_gene_variant	27304				enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity	g.chr20:49575960_49575962delTGC	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		20.37:g.49575960_49575962delTGC	Exception_encountered						p.VL194del	NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN			1	598_600	+			194					O15157|Q6IB78|Q96HK0	In_Frame_Del	DEL	ENST00000371588.5	37	c.581_583delTGC	CCDS13434.1																																																																																				0.596	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859		15	55						15	55	---	---	---	---
