#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
CCL21	6366	broad.mit.edu	37	9	34709503	34709503	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr9:34709503C>T	ENST00000259607.2	-	3	422	c.365G>A	c.(364-366)tGc>tAc	p.C122Y	CCL21_ENST00000378792.1_Missense_Mutation_p.C122Y	NM_002989.2	NP_002980.1	O00585	CCL21_HUMAN	chemokine (C-C motif) ligand 21	122	C-terminal basic extension.				activation of Rho GTPase activity (GO:0032862)|cell chemotaxis (GO:0060326)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|dendritic cell chemotaxis (GO:0002407)|dendritic cell dendrite assembly (GO:0097026)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|immunological synapse formation (GO:0001771)|inflammatory response (GO:0006954)|mesangial cell-matrix adhesion (GO:0035759)|negative regulation of dendritic cell dendrite assembly (GO:2000548)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of leukocyte tethering or rolling (GO:1903237)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of chemotaxis (GO:0050921)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process (GO:0010560)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myeloid dendritic cell chemotaxis (GO:2000529)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of T cell migration (GO:2000406)|release of sequestered calcium ion into cytosol (GO:0051209)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)|T cell costimulation (GO:0031295)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR7 chemokine receptor binding (GO:0031732)|chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)			large_intestine(4)	4	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		TCACCTCTTGCAGCCTTTGGA	0.597																																						ENST00000259607.2																			0				large_intestine(4)	4						c.(364-366)tGc>tAc		chemokine (C-C motif) ligand 21							88.0	86.0	87.0					9																	34709503		2203	4300	6503	SO:0001583	missense	6366				activation of Rho GTPase activity|cell maturation|cell-cell signaling|dendritic cell chemotaxis|dendritic cell dendrite assembly|establishment of T cell polarity|immune response|immunological synapse formation|inflammatory response|mesangial cell-matrix adhesion|negative regulation of leukocyte apoptosis|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of cell-matrix adhesion|positive regulation of dendritic cell antigen processing and presentation|positive regulation of ERK1 and ERK2 cascade|positive regulation of filopodium assembly|positive regulation of glycoprotein biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of myeloid dendritic cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of pseudopodium assembly|positive regulation of receptor-mediated endocytosis|release of sequestered calcium ion into cytosol|response to prostaglandin E stimulus|ruffle organization|T cell costimulation	extracellular space	CCR7 chemokine receptor binding|chemokine activity	g.chr9:34709503C>T	AB002409	CCDS6571.1	9p13	2014-05-16	2002-08-22	2002-08-23	ENSG00000137077	ENSG00000137077		"""Chemokine ligands"", ""Endogenous ligands"""	10620	protein-coding gene	gene with protein product	"""beta chemokine exodus-2"", ""secondary lymphoid tissue chemokine"", ""Efficient Chemoattractant for Lymphocytes"""	602737	"""small inducible cytokine subfamily A (Cys-Cys), member 21"""	SCYA21		9235955	Standard	NM_002989		Approved	SLC, exodus-2, TCA4, CKb9, 6Ckine, ECL	uc003zvo.4	O00585	OTTHUMG00000019838	ENST00000259607.2:c.365G>A	9.37:g.34709503C>T	ENSP00000259607:p.Cys122Tyr					CCL21_ENST00000378792.1_Missense_Mutation_p.C122Y	p.C122Y	NM_002989.2	NP_002980.1	O00585	CCL21_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)	3	422	-	all_epithelial(49;0.0899)		122			C-terminal basic extension.			Missense_Mutation	SNP	ENST00000259607.2	37	c.365G>A	CCDS6571.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.866414	0.32977	.	.	ENSG00000137077	ENST00000259607;ENST00000378792	T;T	0.03272	4.18;3.99	5.36	4.47	0.54385	.	0.284459	0.25197	N	0.032406	T	0.08891	0.0220	L	0.55990	1.75	0.41581	D	0.988742	D	0.58970	0.984	P	0.54372	0.75	T	0.18587	-1.0332	10	0.37606	T	0.19	-3.7808	10.2727	0.43491	0.0:0.9081:0.0:0.0919	.	122	O00585	CCL21_HUMAN	Y	122	ENSP00000259607:C122Y;ENSP00000368069:C122Y	ENSP00000259607:C122Y	C	-	2	0	CCL21	34699503	1.000000	0.71417	1.000000	0.80357	0.339000	0.28857	0.804000	0.27098	1.399000	0.46721	0.650000	0.86243	TGC		0.597	CCL21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052245.1	NM_002989		3	55	0	0	0	1	0	3	55				
CCR8	1237	broad.mit.edu	37	3	39374260	39374260	+	Silent	SNP	G	G	A			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr3:39374260G>A	ENST00000326306.4	+	2	576	c.438G>A	c.(436-438)acG>acA	p.T146T	CCR8_ENST00000545843.1_Silent_p.T63T|CCR8_ENST00000414803.1_Missense_Mutation_p.D89N	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	146					cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		AGGTGAGGACGATCAGGATGG	0.507																																						ENST00000414803.1																			0				NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21						c.(265-267)Gat>Aat		chemokine (C-C motif) receptor 8							233.0	208.0	216.0					3																	39374260		2203	4300	6503	SO:0001819	synonymous_variant	1237				cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity	g.chr3:39374260G>A	D49919	CCDS2684.1	3p22	2012-08-08			ENSG00000179934	ENSG00000179934		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1609	protein-coding gene	gene with protein product		601834		CMKBRL2, CMKBR8		8816377, 8886020	Standard	NM_005201		Approved	CY6, TER1, CKR-L1, GPR-CY6, CDw198	uc010hhr.2	P51685	OTTHUMG00000131290	ENST00000326306.4:c.438G>A	3.37:g.39374260G>A						CCR8_ENST00000326306.4_Silent_p.T146T|CCR8_ENST00000545843.1_Silent_p.T63T	p.D89N			P51685	CCR8_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)	3	336	+			0					B2RC64|Q3KNQ8|Q3KNR3|Q9BYX5	Missense_Mutation	SNP	ENST00000326306.4	37	c.265G>A	CCDS2684.1	.	.	.	.	.	.	.	.	.	.	G	2.700	-0.271103	0.05716	.	.	ENSG00000179934	ENST00000414803	T	0.15952	2.38	4.76	-9.53	0.00575	.	.	.	.	.	T	0.15912	0.0383	.	.	.	0.58432	D	0.999991	.	.	.	.	.	.	T	0.51718	-0.8670	6	0.87932	D	0	.	2.6068	0.04880	0.3376:0.0753:0.3613:0.2258	.	.	.	.	N	89	ENSP00000390104:D89N	ENSP00000390104:D89N	D	+	1	0	CCR8	39349264	0.000000	0.05858	0.000000	0.03702	0.125000	0.20455	-3.785000	0.00367	-2.694000	0.00402	-0.768000	0.03414	GAT		0.507	CCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254058.2	NM_005201		4	150	0	0	0	1	0	4	150				
SHROOM1	134549	broad.mit.edu	37	5	132160411	132160411	+	Silent	SNP	A	A	G			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr5:132160411A>G	ENST00000378679.3	-	6	1941	c.1137T>C	c.(1135-1137)ccT>ccC	p.P379P	SHROOM1_ENST00000378676.1_Intron|SHROOM1_ENST00000488072.1_5'Flank|SHROOM1_ENST00000319854.3_Silent_p.P379P	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	379					actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGAGCCAGGCAGGCACAATGC	0.592																																						ENST00000378679.3																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(1135-1137)ccT>ccC		shroom family member 1							77.0	84.0	82.0					5																	132160411		2203	4300	6503	SO:0001819	synonymous_variant	134549				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding	g.chr5:132160411A>G	AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.1137T>C	5.37:g.132160411A>G						SHROOM1_ENST00000319854.3_Silent_p.P379P|SHROOM1_ENST00000378676.1_Intron	p.P379P	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		6	1941	-			379					B7WP40|B7ZL01|Q8TDP0|Q8TF41	Silent	SNP	ENST00000378679.3	37	c.1137T>C	CCDS54902.1																																																																																				0.592	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1	NM_133456		21	37	0	0	0	1	0	21	37				
BDKRB2	624	broad.mit.edu	37	14	96707048	96707048	+	Missense_Mutation	SNP	C	C	T	rs183386880	byFrequency	TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr14:96707048C>T	ENST00000306005.3	+	3	579	c.383C>T	c.(382-384)aCg>aTg	p.T128M	BDKRB2_ENST00000542454.2_Missense_Mutation_p.T101M|BDKRB2_ENST00000539359.1_Missense_Mutation_p.T101M|BDKRB2_ENST00000554311.1_Missense_Mutation_p.T128M|RP11-404P21.8_ENST00000553811.1_Intron	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	128					arachidonic acid secretion (GO:0050482)|blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator (GO:1902239)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of vascular permeability (GO:0043114)|regulation of vasoconstriction (GO:0019229)|response to salt stress (GO:0009651)|smooth muscle contraction (GO:0006939)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|phosphatidylinositol phospholipase C activity (GO:0004435)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|type 1 angiotensin receptor binding (GO:0031702)	p.T128M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)	Icatibant(DB06196)	TTTGGGGAGACGCTCTGCCGC	0.587													C|||	5	0.000998403	0.0	0.0	5008	,	,		20523	0.003		0.0	False		,,,				2504	0.002					ENST00000542454.2																			1	Substitution - Missense(1)	p.T128M(1)	endometrium(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24						c.(301-303)aCg>aTg		bradykinin receptor B2							146.0	148.0	147.0					14																	96707048		2203	4300	6503	SO:0001583	missense	0				arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding	g.chr14:96707048C>T	S56772	CCDS9942.1	14q32.1-q32.2	2012-08-08				ENSG00000168398		"""GPCR / Class A : Bradykinin receptors"""	1030	protein-coding gene	gene with protein product		113503				7916737	Standard	NM_000623		Approved	BK-2	uc010avm.1	P30411		ENST00000306005.3:c.383C>T	14.37:g.96707048C>T	ENSP00000307713:p.Thr128Met					BDKRB2_ENST00000539359.1_Missense_Mutation_p.T101M|BDKRB2_ENST00000306005.3_Missense_Mutation_p.T128M|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000554311.1_Missense_Mutation_p.T128M	p.T101M			P30411	BKRB2_HUMAN		COAD - Colon adenocarcinoma(157;0.226)	3	3390	+		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)	128						Missense_Mutation	SNP	ENST00000306005.3	37	c.302C>T	CCDS9942.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	8.269	0.813012	0.16537	.	.	ENSG00000168398	ENST00000542454;ENST00000554311;ENST00000306005;ENST00000539359	T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61	4.68	-3.91	0.04168	GPCR, rhodopsin-like superfamily (1);	0.595996	0.17777	N	0.162372	T	0.54078	0.1836	L	0.28192	0.835	0.09310	N	1	P	0.44195	0.828	B	0.41917	0.37	T	0.54906	-0.8223	10	0.41790	T	0.15	-10.1353	12.669	0.56857	0.0:0.5206:0.0:0.4794	.	128	P30411	BKRB2_HUMAN	M	101;128;128;101	ENSP00000439459:T101M;ENSP00000450482:T128M;ENSP00000307713:T128M;ENSP00000438376:T101M	ENSP00000307713:T128M	T	+	2	0	BDKRB2	95776801	0.000000	0.05858	0.007000	0.13788	0.588000	0.36517	0.190000	0.17057	-0.992000	0.03472	-0.258000	0.10820	ACG		0.587	BDKRB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413294.1			9	107	0	0	0	1	0	9	107				
SNRPB2	6629	broad.mit.edu	37	20	16712917	16712917	+	Missense_Mutation	SNP	A	A	G			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr20:16712917A>G	ENST00000246071.6	+	3	389	c.173A>G	c.(172-174)gAa>gGa	p.E58G	RP4-705D16.3_ENST00000425939.1_RNA|SNRPB2_ENST00000377943.5_Missense_Mutation_p.E58G|SNRPB2_ENST00000478522.1_3'UTR	NM_003092.4	NP_003083.1	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B	58	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2 snRNP (GO:0005686)	nucleotide binding (GO:0000166)|snRNA binding (GO:0017069)			large_intestine(2)|lung(2)|urinary_tract(1)	5						ATATTTAAGGAACTGGGCTCA	0.408																																						ENST00000246071.6																			0				large_intestine(2)|lung(2)|urinary_tract(1)	5						c.(172-174)gAa>gGa		small nuclear ribonucleoprotein polypeptide B							135.0	129.0	131.0					20																	16712917		2203	4300	6503	SO:0001583	missense	6629					catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	nucleotide binding|protein binding|RNA binding	g.chr20:16712917A>G		CCDS13123.1	20p12.1	2013-02-12	2010-07-07		ENSG00000125870	ENSG00000125870		"""RNA binding motif (RRM) containing"""	11155	protein-coding gene	gene with protein product		603520	"""small nuclear ribonucleoprotein polypeptide B2"", ""small nuclear ribonucleoprotein polypeptide B''"""			2951739	Standard	NM_198220		Approved	Msl1	uc002wpi.2	P08579	OTTHUMG00000031933	ENST00000246071.6:c.173A>G	20.37:g.16712917A>G	ENSP00000246071:p.Glu58Gly					SNRPB2_ENST00000377943.5_Missense_Mutation_p.E58G|SNRPB2_ENST00000478522.1_3'UTR	p.E58G	NM_003092.4	NP_003083.1	P08579	RU2B_HUMAN			3	389	+			58			RRM 1.		B2R7J3|D3DW21|Q9UJD4	Missense_Mutation	SNP	ENST00000246071.6	37	c.173A>G	CCDS13123.1	.	.	.	.	.	.	.	.	.	.	A	30	5.049808	0.93740	.	.	ENSG00000125870	ENST00000377943;ENST00000246071	T;T	0.06142	3.34;3.34	5.75	5.75	0.90469	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.28566	0.0707	M	0.85373	2.75	0.80722	D	1	D	0.67145	0.996	D	0.74674	0.984	T	0.03202	-1.1061	10	0.66056	D	0.02	-24.1121	14.6186	0.68569	1.0:0.0:0.0:0.0	.	58	P08579	RU2B_HUMAN	G	58	ENSP00000367178:E58G;ENSP00000246071:E58G	ENSP00000246071:E58G	E	+	2	0	SNRPB2	16660917	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.268000	0.95675	2.193000	0.70182	0.528000	0.53228	GAA		0.408	SNRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078110.1	NM_003092		28	66	0	0	0	1	0	28	66				
TBC1D3P2	440452	broad.mit.edu	37	17	60345580	60345580	+	RNA	SNP	C	C	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr17:60345580C>T	ENST00000581291.1	-	0	771									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						TGGACGGTCCCGCCATTTGGG	0.567																																						ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																														0							g.chr17:60345580C>T			17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60345580C>T														0	771	-									RNA	SNP	ENST00000581291.1	37																																																																																						0.567	TBC1D3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445021.1	NR_027486		63	125	0	0	0	1	0	63	125				
CSN2	1447	broad.mit.edu	37	4	70823037	70823037	+	Silent	SNP	G	G	T	rs563592227		TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr4:70823037G>T	ENST00000353151.3	-	5	641	c.630C>A	c.(628-630)atC>atA	p.I210I		NM_001891.2	NP_001882.1	P61201	CSN2_HUMAN	casein beta	0					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						TCACAGGGTAGATCTGGTGGG	0.493																																						ENST00000353151.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						c.(628-630)atC>atA		casein beta							82.0	78.0	79.0					4																	70823037		2203	4300	6503	SO:0001819	synonymous_variant	1447				calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity	g.chr4:70823037G>T	X17070	CCDS3532.1	4q21.1	2008-02-05			ENSG00000135222	ENSG00000135222			2447	protein-coding gene	gene with protein product		115460		CASB		1577486	Standard	NM_001891		Approved		uc003hes.4	P05814	OTTHUMG00000129409	ENST00000353151.3:c.630C>A	4.37:g.70823037G>T							p.I210I	NM_001891.2	NP_001882.1	P05814	CASB_HUMAN			5	641	-			210					O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Silent	SNP	ENST00000353151.3	37	c.630C>A	CCDS3532.1																																																																																				0.493	CSN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251565.1			11	19	1	0	1.08611e-07	1	1.19609e-07	11	19				
BSN	8927	broad.mit.edu	37	3	49700781	49700781	+	Silent	SNP	C	C	T	rs367558667		TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr3:49700781C>T	ENST00000296452.4	+	7	11304	c.11190C>T	c.(11188-11190)tcC>tcT	p.S3730S		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3730					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)		AAGCCCACTCCGGGCCCGCTG	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.(11188-11190)tcC>tcT		bassoon presynaptic cytomatrix protein		C		1,4405	2.1+/-5.4	0,1,2202	62.0	65.0	64.0		11190	-10.0	0.0	3		64	0,8600		0,0,4300	no	coding-synonymous	BSN	NM_003458.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		3730/3927	49700781	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49700781C>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.11190C>T	3.37:g.49700781C>T							p.S3730S	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)	7	11304	+			3730					O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	37	c.11190C>T	CCDS2800.1																																																																																				0.622	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		6	54	0	0	0	1	0	6	54				
ZNF148	7707	broad.mit.edu	37	3	124953120	124953120	+	Missense_Mutation	SNP	G	G	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr3:124953120G>T	ENST00000360647.4	-	8	1206	c.721C>A	c.(721-723)Cat>Aat	p.H241N	ZNF148_ENST00000497929.1_5'UTR|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.H241N|ZNF148_ENST00000484491.1_Missense_Mutation_p.H241N|ZNF148_ENST00000492394.1_Missense_Mutation_p.H241N	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	241					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						CTTTCCATATGATATTTTTGT	0.313																																						ENST00000360647.4																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						c.(721-723)Cat>Aat		zinc finger protein 148							116.0	118.0	117.0					3																	124953120		2203	4297	6500	SO:0001583	missense	7707				cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chr3:124953120G>T	U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"""Zinc fingers, C2H2-type"""	12933	protein-coding gene	gene with protein product		601897	"""zinc finger protein 148 (pHZ-52)"""			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.721C>A	3.37:g.124953120G>T	ENSP00000353863:p.His241Asn					ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.H241N|ZNF148_ENST00000484491.1_Missense_Mutation_p.H241N|ZNF148_ENST00000497929.1_5'UTR|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.H241N	p.H241N	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN			8	1206	-			241					D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP	ENST00000360647.4	37	c.721C>A	CCDS3031.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468277	0.63625	.	.	ENSG00000163848	ENST00000360647;ENST00000484491;ENST00000492394;ENST00000485866;ENST00000543574	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	5.32	4.42	0.53409	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.48077	0.1480	N	0.15975	0.35	0.80722	D	1	P	0.42620	0.785	P	0.46585	0.521	T	0.53683	-0.8404	10	0.56958	D	0.05	-17.8645	14.5566	0.68103	0.0716:0.0:0.9284:0.0	.	241	Q9UQR1	ZN148_HUMAN	N	241	ENSP00000353863:H241N;ENSP00000420335:H241N;ENSP00000419322:H241N;ENSP00000420448:H241N	ENSP00000353863:H241N	H	-	1	0	ZNF148	126435810	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.810000	0.86072	2.764000	0.94973	0.650000	0.86243	CAT		0.313	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	NM_021964		25	112	1	0	1.66031e-10	1	1.90061e-10	25	112				
HELLS	3070	broad.mit.edu	37	10	96331150	96331150	+	Missense_Mutation	SNP	T	T	G			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr10:96331150T>G	ENST00000348459.5	+	7	546	c.441T>G	c.(439-441)atT>atG	p.I147M	HELLS_ENST00000394036.1_Missense_Mutation_p.F126V|HELLS_ENST00000371332.4_Missense_Mutation_p.I147M|HELLS_ENST00000394045.1_Missense_Mutation_p.I147M|HELLS_ENST00000394044.1_Missense_Mutation_p.I147M|HELLS_ENST00000239026.6_3'UTR	NM_018063.3	NP_060533.2			helicase, lymphoid-specific											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		ACTAGGAAATTTTGTCTGTGG	0.269																																						ENST00000348459.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(439-441)atT>atG		helicase, lymphoid-specific							35.0	40.0	38.0					10																	96331150		2145	4256	6401	SO:0001583	missense	3070				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity	g.chr10:96331150T>G	AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"""SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6"", ""proliferation-associated SNF2-like protein"""	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.441T>G	10.37:g.96331150T>G	ENSP00000239027:p.Ile147Met					HELLS_ENST00000371332.4_Missense_Mutation_p.I147M|HELLS_ENST00000394045.1_Missense_Mutation_p.I147M|HELLS_ENST00000394036.1_Missense_Mutation_p.F126V|HELLS_ENST00000394044.1_Missense_Mutation_p.I147M|HELLS_ENST00000239026.6_3'UTR	p.I147M	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN		all cancers(201;2.13e-05)	7	546	+		Colorectal(252;0.0429)	147						Missense_Mutation	SNP	ENST00000348459.5	37	c.441T>G	CCDS7434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.17|15.17	2.753620|2.753620	0.49362|0.49362	.|.	.|.	ENSG00000119969|ENSG00000119969	ENST00000394036|ENST00000419900;ENST00000348459;ENST00000394045;ENST00000394044;ENST00000371332	.|T;T;D;T	.|0.95788	.|0.52;0.52;-3.81;0.52	4.92|4.92	3.76|3.76	0.43208|0.43208	.|.	.|0.101249	.|0.64402	.|D	.|0.000003	D|D	0.93693|0.93693	0.7985|0.7985	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	.|P;P;P;D;P	.|0.58620	.|0.809;0.918;0.556;0.983;0.846	.|P;P;B;P;P	.|0.56823	.|0.672;0.472;0.195;0.807;0.472	D|D	0.91572|0.91572	0.5272|0.5272	6|10	0.09084|0.52906	T|T	0.74|0.07	-12.931|-12.931	5.7063|5.7063	0.17911|0.17911	0.1521:0.0843:0.0:0.7636|0.1521:0.0843:0.0:0.7636	.|.	.|131;147;147;147;147	.|Q9NRZ9-2;Q6I7N8;Q9NRZ9-6;Q9NRZ9-5;Q9NRZ9	.|.;.;.;.;HELLS_HUMAN	V|M	126|131;147;147;147;147	.|ENSP00000239027:I147M;ENSP00000377609:I147M;ENSP00000377608:I147M;ENSP00000360383:I147M	ENSP00000377601:F126V|ENSP00000239027:I147M	F|I	+|+	1|3	0|3	HELLS|HELLS	96321140|96321140	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.929000|0.929000	0.56500|0.56500	0.320000|0.320000	0.19540|0.19540	0.798000|0.798000	0.33994|0.33994	0.533000|0.533000	0.62120|0.62120	TTT|ATT		0.269	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049475.1	NM_018063		5	22	0	0	0	1	0	5	22				
ACTL10	170487	broad.mit.edu	37	20	32255490	32255490	+	Missense_Mutation	SNP	G	G	C			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr20:32255490G>C	ENST00000330271.4	+	1	1187	c.187G>C	c.(187-189)Gcg>Ccg	p.A63P	NECAB3_ENST00000375238.4_Intron|NECAB3_ENST00000246190.6_Intron	NM_001024675.1	NP_001019846.1	Q5JWF8	ACL10_HUMAN	actin-like 10	63																	GCTGGTGGCGGCGAACCCTGA	0.662																																						ENST00000330271.4																			0											c.(187-189)Gcg>Ccg		actin-like 10							34.0	27.0	29.0					20																	32255490		2199	4294	6493	SO:0001583	missense	170487							g.chr20:32255490G>C	AL121906	CCDS33463.1	20q11.22	2011-11-24	2011-11-24	2011-11-24	ENSG00000182584	ENSG00000182584			16127	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 134"""	C20orf134			Standard	NM_001024675		Approved		uc002wzt.3	Q5JWF8	OTTHUMG00000032262	ENST00000330271.4:c.187G>C	20.37:g.32255490G>C	ENSP00000329647:p.Ala63Pro					NECAB3_ENST00000246190.6_Intron|NECAB3_ENST00000375238.4_Intron	p.A63P	NM_001024675.1	NP_001019846.1	Q5JWF8	CT134_HUMAN			1	1187	+			63					B9EH76	Missense_Mutation	SNP	ENST00000330271.4	37	c.187G>C	CCDS33463.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357409	0.41801	.	.	ENSG00000182584	ENST00000330271	D	0.94376	-3.41	4.9	2.92	0.33932	.	0.504964	0.16515	N	0.211057	D	0.93808	0.8020	L	0.49455	1.56	0.18873	N	0.999986	P	0.51933	0.949	P	0.59424	0.857	D	0.86699	0.1928	10	0.87932	D	0	-8.2021	8.8975	0.35474	0.0798:0.0:0.7723:0.1479	.	63	Q5JWF8	CT134_HUMAN	P	63	ENSP00000329647:A63P	ENSP00000329647:A63P	A	+	1	0	C20orf134	31719151	0.876000	0.30132	0.051000	0.19133	0.008000	0.06430	2.189000	0.42621	0.642000	0.30620	0.561000	0.74099	GCG		0.662	ACTL10-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078713.1			6	15	0	0	0	1	0	6	15				
KIAA0368	23392	broad.mit.edu	37	9	114206739	114206739	+	Missense_Mutation	SNP	T	T	C			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr9:114206739T>C	ENST00000338205.5	-	3	408	c.189A>G	c.(187-189)atA>atG	p.I63M	KIAA0368_ENST00000259335.4_Missense_Mutation_p.I241M			Q5VYK3	ECM29_HUMAN	KIAA0368	69					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						GGCGGCTTTTTATACGTTTAT	0.388																																						ENST00000259335.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(721-723)atA>atG		KIAA0368							121.0	115.0	117.0					9																	114206739		1810	4072	5882	SO:0001583	missense	23392							g.chr9:114206739T>C	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.189A>G	9.37:g.114206739T>C	ENSP00000339889:p.Ile63Met					KIAA0368_ENST00000338205.5_Missense_Mutation_p.I63M	p.I241M	NM_001080398.1	NP_001073867.1					5	722	-								O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	37	c.723A>G		.	.	.	.	.	.	.	.	.	.	T	18.51	3.640681	0.67244	.	.	ENSG00000136813	ENST00000338205;ENST00000259335	T	0.54675	0.56	5.41	5.41	0.78517	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61211	0.2329	L	0.43152	1.355	0.80722	D	1	D	0.62365	0.991	D	0.73380	0.98	T	0.64236	-0.6455	10	0.72032	D	0.01	.	7.7943	0.29138	0.1213:0.0:0.2053:0.6735	.	69	Q5VYK3	ECM29_HUMAN	M	63;241	ENSP00000259335:I241M	ENSP00000259335:I241M	I	-	3	3	KIAA0368	113246560	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.686000	0.25392	2.056000	0.61249	0.377000	0.23210	ATA		0.388	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		9	17	0	0	0	1	0	9	17				
FGFR1	2260	broad.mit.edu	37	8	38271265	38271265	+	Missense_Mutation	SNP	G	G	A	rs377149398		TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr8:38271265G>A	ENST00000447712.2	-	18	3291	c.2350C>T	c.(2350-2352)Cgg>Tgg	p.R784W	FGFR1_ENST00000356207.5_Missense_Mutation_p.R695W|FGFR1_ENST00000397108.4_Missense_Mutation_p.R782W|FGFR1_ENST00000341462.5_Missense_Mutation_p.R784W|FGFR1_ENST00000326324.6_Missense_Mutation_p.R693W|FGFR1_ENST00000397113.2_Missense_Mutation_p.R782W|FGFR1_ENST00000397091.5_Missense_Mutation_p.R782W|FGFR1_ENST00000397103.1_Missense_Mutation_p.R695W|FGFR1_ENST00000532791.1_Missense_Mutation_p.R782W|FGFR1_ENST00000425967.3_Missense_Mutation_p.R815W|FGFR1_ENST00000335922.5_Missense_Mutation_p.R774W	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	784					angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GTAGAGCTCCGGGTGTCGGGA	0.662		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""																														Melanoma(146;1153 1840 21453 21841 43625)	ENST00000341462.5		1		Dom	yes		8	8p11.2-p11.1	2260	T	fibroblast growth factor receptor 1	yes	"""Pfeiffer syndrome, Kallman syndrome"""	L	"""BCR, FOP, ZNF198, CEP1"""		"""MPD, NHL"""	FGFR1/ZNF703(2)	0				breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50						c.(2350-2352)Cgg>Tgg		fibroblast growth factor receptor 1	Palifermin(DB00039)	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4012		0,0,2006	30.0	37.0	35.0		2344,2320,2344,2083,2443,2344,2083,2077,2350	5.5	1.0	8		35	1,8351		0,1,4175	no	missense,missense,missense,missense,missense,missense,missense,missense,missense	FGFR1	NM_001174063.1,NM_001174064.1,NM_001174065.1,NM_001174066.1,NM_001174067.1,NM_015850.3,NM_023105.2,NM_023106.2,NM_023110.2	101,101,101,101,101,101,101,101,101	0,1,6181	AA,AG,GG		0.012,0.0,0.0081	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	782/821,774/813,782/821,695/734,815/854,782/821,695/734,693/732,784/823	38271265	1,12363	2006	4176	6182	SO:0001583	missense	2260				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	g.chr8:38271265G>A	M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.2350C>T	8.37:g.38271265G>A	ENSP00000400162:p.Arg784Trp					FGFR1_ENST00000397103.1_Missense_Mutation_p.R695W|FGFR1_ENST00000397113.2_Missense_Mutation_p.R782W|FGFR1_ENST00000356207.5_Missense_Mutation_p.R695W|FGFR1_ENST00000397091.5_Missense_Mutation_p.R782W|FGFR1_ENST00000532791.1_Missense_Mutation_p.R782W|FGFR1_ENST00000326324.6_Missense_Mutation_p.R693W|FGFR1_ENST00000425967.3_Missense_Mutation_p.R815W|FGFR1_ENST00000335922.5_Missense_Mutation_p.R774W|FGFR1_ENST00000447712.2_Missense_Mutation_p.R784W|FGFR1_ENST00000397108.4_Missense_Mutation_p.R782W	p.R784W			P11362	FGFR1_HUMAN	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		18	3291	-	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	784					A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Missense_Mutation	SNP	ENST00000447712.2	37	c.2350C>T	CCDS6107.2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123349	0.77436	0.0	1.2E-4	ENSG00000077782	ENST00000397091;ENST00000425967;ENST00000447712;ENST00000341462;ENST00000532791;ENST00000397113;ENST00000356207;ENST00000335922;ENST00000326324;ENST00000397103;ENST00000397108	T;T;T;T;T;T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.88485	0.6449	M	0.74258	2.255	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.999;1.0;1.0	D	0.89111	0.3496	10	0.72032	D	0.01	.	19.4585	0.94906	0.0:0.0:1.0:0.0	.	693;693;784;774;782	P11362-14;P11362-4;P11362;P11362-20;P11362-2	.;.;FGFR1_HUMAN;.;.	W	782;815;784;784;782;782;695;774;693;695;782	ENSP00000380280:R782W;ENSP00000393312:R815W;ENSP00000400162:R784W;ENSP00000340636:R784W;ENSP00000432972:R782W;ENSP00000380302:R782W;ENSP00000348537:R695W;ENSP00000337247:R774W;ENSP00000327229:R693W;ENSP00000380292:R695W;ENSP00000380297:R782W	ENSP00000327229:R693W	R	-	1	2	FGFR1	38390422	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	2.554000	0.45845	2.602000	0.87976	0.655000	0.94253	CGG		0.662	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				10	27	0	0	0	1	0	10	27				
FGR	2268	broad.mit.edu	37	1	27939804	27939804	+	Missense_Mutation	SNP	G	G	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr1:27939804G>T	ENST00000374005.3	-	12	1595	c.1307C>A	c.(1306-1308)aCc>aAc	p.T436N	FGR_ENST00000399173.1_Missense_Mutation_p.T436N|FGR_ENST00000545953.1_Missense_Mutation_p.T370N|FGR_ENST00000374004.1_Missense_Mutation_p.T436N	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	FGR proto-oncogene, Src family tyrosine kinase	436	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|defense response to Gram-positive bacterium (GO:0050830)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of innate immune response (GO:0045088)|regulation of phagocytosis (GO:0050764)|regulation of protein kinase activity (GO:0045859)|response to virus (GO:0009615)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|Fc-gamma receptor I complex binding (GO:0034988)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphotyrosine binding (GO:0001784)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TGACTTGATGGTGAATCTGCC	0.587																																						ENST00000374005.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16						c.(1306-1308)aCc>aAc		feline Gardner-Rasheed sarcoma viral oncogene homolog							93.0	94.0	93.0					1																	27939804		2203	4300	6503	SO:0001583	missense	2268				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:27939804G>T	BC064382	CCDS305.1	1p36.2-p36.1	2014-06-25	2014-06-25		ENSG00000000938	ENSG00000000938		"""SH2 domain containing"""	3697	protein-coding gene	gene with protein product		164940	"""Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog"", ""v-fgr feline Gardner-Rasheed sarcoma viral oncogene homolog"", ""feline Gardner-Rasheed sarcoma viral oncogene homolog"""	SRC2		3922831	Standard	NM_001042729		Approved	c-fgr, p55c-fgr	uc001bom.3	P09769	OTTHUMG00000003516	ENST00000374005.3:c.1307C>A	1.37:g.27939804G>T	ENSP00000363117:p.Thr436Asn					FGR_ENST00000399173.1_Missense_Mutation_p.T436N|FGR_ENST00000374004.1_Missense_Mutation_p.T436N|FGR_ENST00000545953.1_Missense_Mutation_p.T370N	p.T436N	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	12	1595	-		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	436			Protein kinase.		D3DPL7|Q9UIQ3	Missense_Mutation	SNP	ENST00000374005.3	37	c.1307C>A	CCDS305.1	.	.	.	.	.	.	.	.	.	.	g	21.4	4.137381	0.77775	.	.	ENSG00000000938	ENST00000374005;ENST00000545953;ENST00000399173;ENST00000374004;ENST00000374003	T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65	4.65	3.72	0.42706	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000042	T	0.29620	0.0739	L	0.54323	1.7	0.34908	D	0.747198	D	0.63046	0.992	D	0.63703	0.917	T	0.44406	-0.9330	10	0.87932	D	0	.	13.8042	0.63220	0.0:0.1551:0.8449:0.0	.	436	P09769	FGR_HUMAN	N	436;370;436;436;436	ENSP00000363117:T436N;ENSP00000445302:T370N;ENSP00000382126:T436N;ENSP00000363116:T436N;ENSP00000363115:T436N	ENSP00000363115:T436N	T	-	2	0	FGR	27812391	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	6.725000	0.74752	1.080000	0.41073	0.586000	0.80456	ACC		0.587	FGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009772.1	NM_005248		35	36	1	0	1.07637e-12	1	1.28279e-12	35	36				
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C	rs200164543		TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95								p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378																																						ENST00000278882.3																			4	Substitution - coding silent(4)	p.G95G(4)	urinary_tract(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(283-285)ggG>ggC																																						SO:0001819	synonymous_variant	0							g.chr20:29628283G>C			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.285G>C	20.37:g.29628283G>C						FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G	p.G95G							6	665	+								C4AME5	Silent	SNP	ENST00000278882.3	37	c.285G>C																																																																																					0.378	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	81	0	0	0	1	0	4	81				
FAM84A	151354	broad.mit.edu	37	2	14774426	14774426	+	Missense_Mutation	SNP	T	T	C			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr2:14774426T>C	ENST00000295092.2	+	2	611	c.323T>C	c.(322-324)cTa>cCa	p.L108P	AC011897.1_ENST00000581929.1_5'Flank|FAM84A_ENST00000331243.4_Missense_Mutation_p.L108P	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	108										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			GGCGCCGACCTAAGCGTCTAC	0.687																																						ENST00000295092.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(322-324)cTa>cCa		family with sequence similarity 84, member A							11.0	12.0	12.0					2																	14774426		2192	4273	6465	SO:0001583	missense	151354							g.chr2:14774426T>C	AJ417080, BC026346	CCDS1684.1	2p24.3	2005-08-09			ENSG00000162981	ENSG00000162981			20743	protein-coding gene	gene with protein product	"""neurological/sensory 1"""	611234				14702039	Standard	NM_145175		Approved	NSE1, FLJ35392	uc002rbz.2	Q96KN4	OTTHUMG00000119093	ENST00000295092.2:c.323T>C	2.37:g.14774426T>C	ENSP00000295092:p.Leu108Pro					FAM84A_ENST00000331243.4_Missense_Mutation_p.L108P	p.L108P	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	GBM - Glioblastoma multiforme(1;0.00969)		2	611	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		108					A6NP76|Q86UZ2|Q8NAH7|Q8TAM5	Missense_Mutation	SNP	ENST00000295092.2	37	c.323T>C	CCDS1684.1	.	.	.	.	.	.	.	.	.	.	T	19.34	3.809612	0.70797	.	.	ENSG00000162981	ENST00000295092;ENST00000331243;ENST00000359969	T;T	0.12672	2.66;2.66	4.96	3.77	0.43336	.	0.000000	0.64402	D	0.000001	T	0.18425	0.0442	L	0.38175	1.15	0.80722	D	1	P	0.52463	0.953	P	0.52109	0.69	T	0.00770	-1.1573	10	0.87932	D	0	-5.7575	11.2312	0.48914	0.0:0.0:0.1538:0.8462	.	108	Q96KN4	FA84A_HUMAN	P	108	ENSP00000295092:L108P;ENSP00000330681:L108P	ENSP00000295092:L108P	L	+	2	0	FAM84A	14691877	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.883000	0.63128	0.786000	0.33708	0.533000	0.62120	CTA		0.687	FAM84A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239308.2	NM_145175		6	5	0	0	0	1	0	6	5				
TNFRSF21	27242	broad.mit.edu	37	6	47200616	47200616	+	Missense_Mutation	SNP	A	A	G			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr6:47200616A>G	ENST00000296861.2	-	6	2246	c.1853T>C	c.(1852-1854)aTt>aCt	p.I618T		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	618					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			AGCCTGGGGAATCTCTTCAAT	0.517																																						ENST00000296861.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21						c.(1852-1854)aTt>aCt		tumor necrosis factor receptor superfamily, member 21							121.0	130.0	127.0					6																	47200616		2203	4300	6503	SO:0001583	missense	27242				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	g.chr6:47200616A>G	AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	13469	protein-coding gene	gene with protein product	"""death receptor 6"""	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.1853T>C	6.37:g.47200616A>G	ENSP00000296861:p.Ile618Thr						p.I618T	NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	Lung(136;0.189)		6	2246	-			618					B2RDI9|Q0D2P5|Q96D86	Missense_Mutation	SNP	ENST00000296861.2	37	c.1853T>C	CCDS4921.1	.	.	.	.	.	.	.	.	.	.	A	13.36	2.213716	0.39102	.	.	ENSG00000146072	ENST00000296861;ENST00000419206	T	0.72282	-0.64	5.95	4.8	0.61643	.	0.141501	0.64402	N	0.000005	T	0.42426	0.1202	L	0.27053	0.805	0.51767	D	0.999931	B	0.16802	0.019	B	0.19391	0.025	T	0.46005	-0.9222	10	0.59425	D	0.04	.	10.7009	0.45926	0.9283:0.0:0.0717:0.0	.	618	O75509	TNR21_HUMAN	T	618;307	ENSP00000296861:I618T	ENSP00000296861:I618T	I	-	2	0	TNFRSF21	47308575	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.184000	0.65070	1.082000	0.41137	0.533000	0.62120	ATT		0.517	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1	NM_014452		16	228	0	0	0	1	0	16	228				
B3GALT2	8707	broad.mit.edu	37	1	193150245	193150245	+	Missense_Mutation	SNP	T	T	C			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr1:193150245T>C	ENST00000367434.4	-	2	1203	c.448A>G	c.(448-450)Agt>Ggt	p.S150G	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	150					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						AAAAAAGGACTTTTCTCTTGG	0.363																																						ENST00000367434.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						c.(448-450)Agt>Ggt		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2							97.0	103.0	101.0					1																	193150245		2203	4299	6502	SO:0001583	missense	8707				protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr1:193150245T>C	Y15060	CCDS1383.1	1q31	2013-02-19			ENSG00000162630	ENSG00000162630		"""Beta 3-glycosyltransferases"""	917	protein-coding gene	gene with protein product		603018				9582303, 9417100	Standard	NM_003783		Approved	beta3Gal-T2	uc001gtc.4	O43825	OTTHUMG00000035687	ENST00000367434.4:c.448A>G	1.37:g.193150245T>C	ENSP00000356404:p.Ser150Gly					CDC73_ENST00000367435.3_Intron	p.S150G	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN			2	1203	-			150					B2RAB1|Q9BZQ9	Missense_Mutation	SNP	ENST00000367434.4	37	c.448A>G	CCDS1383.1	.	.	.	.	.	.	.	.	.	.	T	6.448	0.450731	0.12223	.	.	ENSG00000162630	ENST00000367434	T	0.39056	1.1	5.39	4.25	0.50352	.	0.751959	0.13235	N	0.403295	T	0.30634	0.0771	L	0.34521	1.04	0.25716	N	0.985428	B	0.02656	0.0	B	0.04013	0.001	T	0.18999	-1.0319	10	0.26408	T	0.33	.	8.7118	0.34389	0.0:0.0687:0.1291:0.8022	.	150	O43825	B3GT2_HUMAN	G	150	ENSP00000356404:S150G	ENSP00000356404:S150G	S	-	1	0	B3GALT2	191416868	0.982000	0.34865	0.788000	0.31933	0.888000	0.51559	2.649000	0.46656	0.967000	0.38186	0.533000	0.62120	AGT		0.363	B3GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086759.1	NM_003783		24	64	0	0	0	1	0	24	64				
MMRN1	22915	broad.mit.edu	37	4	90857770	90857770	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr4:90857770C>T	ENST00000394980.1	+	7	3258	c.2939C>T	c.(2938-2940)tCt>tTt	p.S980F	MMRN1_ENST00000508372.1_Missense_Mutation_p.S722F|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.S980F			Q13201	MMRN1_HUMAN	multimerin 1	980					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GCTGCCCTATCTAATTTAACT	0.358																																						ENST00000394980.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(2938-2940)tCt>tTt		multimerin 1							52.0	56.0	55.0					4																	90857770		2203	4298	6501	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90857770C>T	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.2939C>T	4.37:g.90857770C>T	ENSP00000378431:p.Ser980Phe					MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Missense_Mutation_p.S722F|MMRN1_ENST00000264790.2_Missense_Mutation_p.S980F	p.S980F			Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	7	3258	+		Hepatocellular(203;0.114)	980					Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.2939C>T	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.425627	0.43020	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.68903	-0.05;-0.05;-0.36	5.1	4.25	0.50352	.	0.177621	0.38778	N	0.001578	T	0.74298	0.3698	L	0.59436	1.845	0.80722	D	1	D	0.59767	0.986	P	0.56823	0.807	T	0.78102	-0.2335	10	0.87932	D	0	.	14.21	0.65759	0.0:0.9266:0.0:0.0734	.	980	Q13201	MMRN1_HUMAN	F	980;980;722	ENSP00000378431:S980F;ENSP00000264790:S980F;ENSP00000426461:S722F	ENSP00000264790:S980F	S	+	2	0	MMRN1	91076793	0.953000	0.32496	0.582000	0.28627	0.606000	0.37113	2.561000	0.45905	1.457000	0.47850	0.655000	0.94253	TCT		0.358	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		12	47	0	0	0	1	0	12	47				
PDSS1	23590	broad.mit.edu	37	10	26993670	26993670	+	Splice_Site	SNP	G	G	A			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr10:26993670G>A	ENST00000376215.5	+	3	280	c.227G>A	c.(226-228)cGg>cAg	p.R76Q	PDSS1_ENST00000376203.5_Splice_Site_p.R76Q	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	76				R -> Q (in Ref. 1; AAD28559). {ECO:0000305}.	isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)	p.R76L(1)		autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						CGTATATCACGGTAAGTTTAC	0.294																																						ENST00000376215.5																			1	Substitution - Missense(1)	p.R76L(1)	lung(1)	autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						c.e3+1		prenyl (decaprenyl) diphosphate synthase, subunit 1							84.0	88.0	87.0					10																	26993670		2202	4299	6501	SO:0001630	splice_region_variant	23590				isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity	g.chr10:26993670G>A	AF118395	CCDS31168.1	10p12.2	2006-04-12	2006-02-14	2006-02-14	ENSG00000148459	ENSG00000148459			17759	protein-coding gene	gene with protein product	"""coenzyme Q1 homolog (yeast)"""	607429	"""trans-prenyltransferase"""	TPRT		10972372	Standard	NM_014317		Approved	TPT, COQ1	uc001isv.3	Q5T2R2	OTTHUMG00000017844	ENST00000376215.5:c.227+1G>A	10.37:g.26993670G>A						PDSS1_ENST00000376203.5_Splice_Site_p.R76_splice	p.R76_splice	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN			3	280	+			76	R -> Q (in Ref. 1; AAD28559).				Q53F75|Q6P473|Q86WQ8|Q9Y2W5	Splice_Site	SNP	ENST00000376215.5	37	c.227_splice	CCDS31168.1	.	.	.	.	.	.	.	.	.	.	G	9.208	1.030084	0.19512	.	.	ENSG00000148459	ENST00000376215;ENST00000376203;ENST00000396343	D	0.82803	-1.65	4.25	2.13	0.27403	.	0.193910	0.39985	N	0.001205	T	0.70098	0.3185	L	0.35854	1.095	0.26485	N	0.975041	B;B	0.24132	0.098;0.014	B;B	0.18263	0.021;0.001	T	0.55231	-0.8173	10	0.28530	T	0.3	-18.0439	6.2913	0.21061	0.2594:0.0:0.7406:0.0	.	76;76	Q5T2R2-2;Q5T2R2	.;DPS1_HUMAN	Q	76;76;37	ENSP00000365388:R76Q	ENSP00000365376:R76Q	R	+	2	0	PDSS1	27033676	1.000000	0.71417	0.997000	0.53966	0.437000	0.31866	1.787000	0.38704	0.298000	0.22638	0.591000	0.81541	CGG		0.294	PDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047276.1		Missense_Mutation	27	44	0	0	0	1	0	27	44				
ATP6V1B1	525	broad.mit.edu	37	2	71190765	71190765	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr2:71190765G>A	ENST00000234396.4	+	11	1197	c.1124G>A	c.(1123-1125)aGa>aAa	p.R375K	AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.R358K|RN7SL160P_ENST00000468558.2_RNA	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	375					ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						TACGTGGACAGACAGCTTCAC	0.547																																						ENST00000234396.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						c.(1123-1125)aGa>aAa		ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1							169.0	123.0	138.0					2																	71190765		2203	4300	6503	SO:0001583	missense	525				ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr2:71190765G>A	AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"""ATPases / V-type"""	853	protein-coding gene	gene with protein product	"""Renal tubular acidosis with deafness"""	192132	"""vacuolar proton pump 3"""	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.1124G>A	2.37:g.71190765G>A	ENSP00000234396:p.Arg375Lys					AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.R358K	p.R375K	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN			11	1197	+			375					Q53FY0|Q6P4H6	Missense_Mutation	SNP	ENST00000234396.4	37	c.1124G>A	CCDS1912.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.853027	0.71719	.	.	ENSG00000116039	ENST00000234396;ENST00000483246;ENST00000412314	D;D	0.83673	-1.75;-1.75	4.73	4.73	0.59995	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.000000	0.64402	D	0.000002	D	0.83372	0.5240	M	0.71871	2.18	0.58432	D	0.999994	B;B;B	0.17038	0.006;0.005;0.02	B;B;B	0.27796	0.034;0.083;0.079	T	0.82466	-0.0443	10	0.72032	D	0.01	-34.684	15.2381	0.73447	0.0:0.0:1.0:0.0	.	350;358;375	B4DWH7;C9JL73;P15313	.;.;VATB1_HUMAN	K	375;350;358	ENSP00000234396:R375K;ENSP00000388353:R358K	ENSP00000234396:R375K	R	+	2	0	ATP6V1B1	71044273	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.603000	0.98315	2.470000	0.83445	0.655000	0.94253	AGA		0.547	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251920.2	NM_001692		7	31	0	0	0	1	0	7	31				
SACS	26278	broad.mit.edu	37	13	23909827	23909827	+	Missense_Mutation	SNP	G	G	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr13:23909827G>T	ENST00000382292.3	-	9	8461	c.8188C>A	c.(8188-8190)Ctg>Atg	p.L2730M	SACS_ENST00000402364.1_Missense_Mutation_p.L1980M|SACS_ENST00000382298.3_Missense_Mutation_p.L2730M			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2730					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCTGAGCGCAGTTTGTCCAAA	0.378																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(8188-8190)Ctg>Atg		spastic ataxia of Charlevoix-Saguenay (sacsin)							69.0	69.0	69.0					13																	23909827		2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23909827G>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.8188C>A	13.37:g.23909827G>T	ENSP00000371729:p.Leu2730Met					SACS_ENST00000402364.1_Missense_Mutation_p.L1980M|SACS_ENST00000382292.3_Missense_Mutation_p.L2730M	p.L2730M	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	8776	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	2730					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.8188C>A	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	16.61	3.169852	0.57584	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.94232	-3.38;-3.38;-3.38	5.56	-5.12	0.02893	ATPase-like, ATP-binding domain (1);	0.000000	0.64402	D	0.000002	D	0.89329	0.6684	L	0.39898	1.24	0.25581	N	0.986795	P	0.49961	0.93	P	0.45506	0.483	D	0.85247	0.1042	10	0.59425	D	0.04	.	16.0884	0.81073	0.3745:0.0:0.6255:0.0	.	2730	Q9NZJ4	SACS_HUMAN	M	2730;1980;2730	ENSP00000371729:L2730M;ENSP00000385844:L1980M;ENSP00000371735:L2730M	ENSP00000371729:L2730M	L	-	1	2	SACS	22807827	0.153000	0.22777	0.196000	0.23383	0.950000	0.60333	0.146000	0.16180	-0.866000	0.04068	-0.672000	0.03802	CTG		0.378	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		23	56	1	0	7.41945e-09	1	8.27554e-09	23	56				
PRPF18	8559	broad.mit.edu	37	10	13658529	13658529	+	Silent	SNP	C	C	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr10:13658529C>T	ENST00000378572.3	+	9	1084	c.924C>T	c.(922-924)gaC>gaT	p.D308D		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	308					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	potassium channel inhibitor activity (GO:0019870)			central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						TTTTAAATGACGAAACTCAGC	0.438																																						ENST00000378572.3																			0				central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						c.(922-924)gaC>gaT		pre-mRNA processing factor 18							100.0	97.0	98.0					10																	13658529		2203	4300	6503	SO:0001819	synonymous_variant	8559				mRNA processing|RNA splicing	nuclear speck|spliceosomal complex		g.chr10:13658529C>T	U51990	CCDS7100.1	10p12.33	2013-06-10	2013-06-10		ENSG00000165630	ENSG00000165630			17351	protein-coding gene	gene with protein product		604993	"""PRP18 pre-mRNA processing factor 18 homolog (yeast)"", ""PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae)"""			9000057	Standard	XM_005252634		Approved	hPrp18	uc001imp.3	Q99633	OTTHUMG00000017702	ENST00000378572.3:c.924C>T	10.37:g.13658529C>T							p.D308D	NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN			9	1084	+			308					Q5T9P9|Q9BUI9	Silent	SNP	ENST00000378572.3	37	c.924C>T	CCDS7100.1																																																																																				0.438	PRPF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046879.1			14	34	0	0	0	1	0	14	34				
UBQLN3	50613	broad.mit.edu	37	11	5530165	5530165	+	Silent	SNP	C	C	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr11:5530165C>T	ENST00000311659.4	-	2	771	c.624G>A	c.(622-624)ggG>ggA	p.G208G	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	208										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAAGAATATGCCCAATCTCAG	0.532																																					Ovarian(72;684 1260 12332 41642 52180)	ENST00000311659.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(622-624)ggG>ggA		ubiquilin 3							106.0	105.0	105.0					11																	5530165		2201	4297	6498	SO:0001819	synonymous_variant	50613							g.chr11:5530165C>T	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.624G>A	11.37:g.5530165C>T						HBG2_ENST00000380259.2_Intron	p.G208G	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	771	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	208					Q9NRE0	Silent	SNP	ENST00000311659.4	37	c.624G>A	CCDS7758.1																																																																																				0.532	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		4	103	0	0	0	1	0	4	103				
SIPA1L3	23094	broad.mit.edu	37	19	38643562	38643562	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr19:38643562G>A	ENST00000222345.6	+	13	4125	c.3616G>A	c.(3616-3618)Ggc>Agc	p.G1206S		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1206					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CTCCTCTTCCGGCGGCCTGAC	0.667																																						ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(3616-3618)Ggc>Agc		signal-induced proliferation-associated 1 like 3							78.0	75.0	76.0					19																	38643562		2203	4300	6503	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38643562G>A	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.3616G>A	19.37:g.38643562G>A	ENSP00000222345:p.Gly1206Ser						p.G1206S	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		13	4125	+			1206					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.3616G>A	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	G	2.691	-0.273106	0.05716	.	.	ENSG00000105738	ENST00000222345	T	0.42513	0.97	5.03	5.03	0.67393	.	0.544905	0.16262	N	0.222172	T	0.27697	0.0681	L	0.33485	1.01	0.33533	D	0.593832	B	0.18166	0.026	B	0.11329	0.006	T	0.20240	-1.0281	10	0.02654	T	1	-23.628	11.0499	0.47880	0.0:0.0:0.8145:0.1855	.	1206	O60292	SI1L3_HUMAN	S	1206	ENSP00000222345:G1206S	ENSP00000222345:G1206S	G	+	1	0	SIPA1L3	43335402	0.992000	0.36948	0.974000	0.42286	0.412000	0.31113	3.418000	0.52721	2.342000	0.79632	0.460000	0.39030	GGC		0.667	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		29	65	0	0	0	1	0	29	65				
SORCS3	22986	broad.mit.edu	37	10	106974307	106974307	+	Missense_Mutation	SNP	C	C	T	rs201415126		TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr10:106974307C>T	ENST00000369701.3	+	18	2710	c.2483C>T	c.(2482-2484)aCg>aTg	p.T828M	SORCS3_ENST00000369699.4_Missense_Mutation_p.T114M	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	828	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.T828M(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CATGTGGTGACGACCGATGGG	0.587																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			1	Substitution - Missense(1)	p.T828M(1)	large_intestine(1)	autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(2482-2484)aCg>aTg		sortilin-related VPS10 domain containing receptor 3			MET/THR	0,4406		0,0,2203	58.0	53.0	55.0		2483	5.0	0.9	10		55	1,8599	1.2+/-3.3	0,1,4299	no	missense	SORCS3	NM_014978.1	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	828/1223	106974307	1,13005	2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106974307C>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2483C>T	10.37:g.106974307C>T	ENSP00000358715:p.Thr828Met					SORCS3_ENST00000369699.4_Missense_Mutation_p.T114M	p.T828M	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)	18	2710	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	828			PKD.		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.2483C>T	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	c	19.42	3.823419	0.71143	0.0	1.16E-4	ENSG00000156395	ENST00000369701;ENST00000369699	T;T	0.69561	-0.41;-0.41	5.89	4.99	0.66335	PKD domain (1);	0.000000	0.85682	D	0.000000	T	0.79179	0.4402	M	0.62723	1.935	0.49915	D	0.999836	D	0.89917	1.0	D	0.87578	0.998	T	0.79179	-0.1910	9	.	.	.	.	15.1529	0.72717	0.0:0.9324:0.0:0.0676	.	828	Q9UPU3	SORC3_HUMAN	M	828;114	ENSP00000358715:T828M;ENSP00000358713:T114M	.	T	+	2	0	SORCS3	106964297	1.000000	0.71417	0.900000	0.35374	0.992000	0.81027	5.768000	0.68858	1.500000	0.48636	0.558000	0.71614	ACG		0.587	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		3	26	0	0	0	1	0	3	26				
LHX8	431707	broad.mit.edu	37	1	75609544	75609544	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr1:75609544G>A	ENST00000294638.5	+	7	1289	c.625G>A	c.(625-627)Gtg>Atg	p.V209M	LHX8_ENST00000356261.3_Missense_Mutation_p.V199M	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	209					female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						TGGGATTAGTGTGGAAGGTGC	0.413																																						ENST00000294638.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						c.(625-627)Gtg>Atg		LIM homeobox 8							105.0	103.0	104.0					1																	75609544		2203	4300	6503	SO:0001583	missense	431707					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:75609544G>A	AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"""Homeoboxes / LIM class"""	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.625G>A	1.37:g.75609544G>A	ENSP00000294638:p.Val209Met					LHX8_ENST00000356261.3_Missense_Mutation_p.V199M	p.V209M	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN			7	1289	+			209					E9PGE3	Missense_Mutation	SNP	ENST00000294638.5	37	c.625G>A	CCDS30756.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.887659	0.33348	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.86562	-2.14;-2.12	5.63	5.63	0.86233	.	0.110872	0.64402	D	0.000002	T	0.68293	0.2985	N	0.14661	0.345	0.42623	D	0.993358	B	0.27351	0.176	B	0.19391	0.025	T	0.68918	-0.5282	10	0.42905	T	0.14	.	15.2324	0.73401	0.0694:0.0:0.9306:0.0	.	209	Q68G74	LHX8_HUMAN	M	209;199	ENSP00000294638:V209M;ENSP00000348597:V199M	ENSP00000294638:V209M	V	+	1	0	LHX8	75382132	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.867000	0.63013	2.805000	0.96524	0.655000	0.94253	GTG		0.413	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933		20	12	0	0	0	1	0	20	12				
PCDHB17	54661	broad.mit.edu	37	5	140536940	140536940	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr5:140536940C>T	ENST00000539533.1	+	1	1364	c.1364C>T	c.(1363-1365)aCc>aTc	p.T455I						protocadherin beta 17 pseudogene																		TTCACCCAAACCTCCTACACC	0.592																																						ENST00000539533.1																			0											c.(1363-1365)aCc>aTc																																						SO:0001583	missense	0							g.chr5:140536940C>T	AF152527		5q31	2010-01-26				ENSG00000255622		"""Cadherins / Protocadherins : Clustered"""	14547	pseudogene	pseudogene						10380929	Standard	NR_001280		Approved	PCDH-psi1	uc003lis.3			ENST00000539533.1:c.1364C>T	5.37:g.140536940C>T	ENSP00000438685:p.Thr455Ile						p.T455I							1	1364	+									Missense_Mutation	SNP	ENST00000539533.1	37	c.1364C>T		.	.	.	.	.	.	.	.	.	.	C	11.05	1.523796	0.27299	.	.	ENSG00000255622	ENST00000539533	T	0.59772	0.24	5.29	2.41	0.29592	.	.	.	.	.	T	0.38188	0.1031	.	.	.	.	.	.	P	0.40970	0.734	B	0.15052	0.012	T	0.46317	-0.9200	7	0.62326	D	0.03	.	10.2857	0.43566	0.0:0.6742:0.2552:0.0706	.	455	Q96T98	.	I	455	ENSP00000438685:T455I	ENSP00000438685:T455I	T	+	2	0	AC005754.1	140517124	0.000000	0.05858	0.097000	0.21041	0.978000	0.69477	-0.219000	0.09228	0.279000	0.22186	0.485000	0.47835	ACC		0.592	PCDHB17-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				19	84	0	0	0	1	0	19	84				
ZNF345	25850	broad.mit.edu	37	19	37369039	37369039	+	Missense_Mutation	SNP	A	A	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr19:37369039A>T	ENST00000529555.1	+	2	2095	c.1307A>T	c.(1306-1308)tAt>tTt	p.Y436F	ZNF345_ENST00000589046.1_Missense_Mutation_p.Y436F|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.Y436F			Q14585	ZN345_HUMAN	zinc finger protein 345	436					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAGGCTTTTTATAGTGGCTCA	0.428																																						ENST00000529555.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24						c.(1306-1308)tAt>tTt		zinc finger protein 345							78.0	80.0	80.0					19																	37369039		2203	4300	6503	SO:0001583	missense	25850				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding	g.chr19:37369039A>T	X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"""Zinc fingers, C2H2-type"""	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.1307A>T	19.37:g.37369039A>T	ENSP00000431202:p.Tyr436Phe					ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.Y436F|ZNF345_ENST00000589046.1_Missense_Mutation_p.Y436F|ZNF345_ENST00000432005.2_Intron	p.Y436F			Q14585	ZN345_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		2	2095	+	Esophageal squamous(110;0.183)		436						Missense_Mutation	SNP	ENST00000529555.1	37	c.1307A>T	CCDS12497.1	.	.	.	.	.	.	.	.	.	.	A	0.317	-0.964035	0.02249	.	.	ENSG00000251247	ENST00000420450;ENST00000529555;ENST00000344705	T;T	0.07114	3.22;3.22	2.57	-1.02	0.10135	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02970	0.0088	N	0.03983	-0.305	0.09310	N	1	B	0.12013	0.005	B	0.17979	0.02	T	0.42464	-0.9450	9	0.54805	T	0.06	.	0.3724	0.00381	0.2664:0.2012:0.328:0.2044	.	436	Q14585	ZN345_HUMAN	F	436;436;200	ENSP00000431216:Y436F;ENSP00000431202:Y436F	ENSP00000442320:Y200F	Y	+	2	0	ZNF345	42060879	0.000000	0.05858	0.010000	0.14722	0.370000	0.29829	-2.559000	0.00922	-0.135000	0.11495	-0.132000	0.14878	TAT		0.428	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1			23	85	0	0	0	1	0	23	85				
DCN	1634	broad.mit.edu	37	12	91552274	91552274	+	Missense_Mutation	SNP	C	C	A			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr12:91552274C>A	ENST00000052754.5	-	4	838	c.337G>T	c.(337-339)Gtc>Ttc	p.V113F	DCN_ENST00000425043.1_Intron|DCN_ENST00000441303.2_Intron|DCN_ENST00000552962.1_Missense_Mutation_p.V113F|DCN_ENST00000393155.1_Missense_Mutation_p.V113F|DCN_ENST00000547568.2_Intron|DCN_ENST00000228329.5_Intron|DCN_ENST00000303320.3_Intron|DCN_ENST00000456569.2_Intron|DCN_ENST00000420120.2_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	113					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TTATTGTTGACAAGAATCAAT	0.363																																						ENST00000052754.5																			0				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						c.(337-339)Gtc>Ttc		decorin							84.0	81.0	82.0					12																	91552274		2203	4300	6503	SO:0001583	missense	1634				organ morphogenesis	extracellular space		g.chr12:91552274C>A	AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	2705	protein-coding gene	gene with protein product	"""decorin proteoglycan"""	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.337G>T	12.37:g.91552274C>A	ENSP00000052754:p.Val113Phe					DCN_ENST00000303320.3_Intron|DCN_ENST00000425043.1_Intron|DCN_ENST00000228329.5_Intron|DCN_ENST00000547568.2_Intron|DCN_ENST00000456569.2_Intron|DCN_ENST00000393155.1_Missense_Mutation_p.V113F|DCN_ENST00000441303.2_Intron|DCN_ENST00000552962.1_Missense_Mutation_p.V113F|DCN_ENST00000420120.2_Intron	p.V113F	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN			4	838	-			113					Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	ENST00000052754.5	37	c.337G>T	CCDS9039.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500109	0.85176	.	.	ENSG00000011465	ENST00000052754;ENST00000393155;ENST00000552962;ENST00000547937;ENST00000552145;ENST00000550563;ENST00000549513	T;T;T;T;T;T;T	0.57595	0.42;0.42;0.42;0.42;0.42;0.42;0.39	5.69	4.79	0.61399	.	0.052298	0.85682	D	0.000000	T	0.37046	0.0989	N	0.04746	-0.17	0.80722	D	1	P	0.48294	0.908	P	0.49387	0.609	T	0.16424	-1.0403	10	0.10111	T	0.7	.	13.473	0.61292	0.0:0.9233:0.0:0.0767	.	113	P07585	PGS2_HUMAN	F	113	ENSP00000052754:V113F;ENSP00000376862:V113F;ENSP00000447654:V113F;ENSP00000449782:V113F;ENSP00000447886:V113F;ENSP00000449014:V113F;ENSP00000449438:V113F	ENSP00000052754:V113F	V	-	1	0	DCN	90076405	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	4.591000	0.61019	1.393000	0.46605	0.650000	0.86243	GTC		0.363	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406799.3	NM_133507		20	51	1	0	7.45023e-12	1	8.75905e-12	20	51				
IL6ST	3572	broad.mit.edu	37	5	55238515	55238515	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr5:55238515G>A	ENST00000381298.2	-	16	2314	c.2002C>T	c.(2002-2004)Cct>Tct	p.P668S	CTD-2031P19.5_ENST00000576302.1_RNA|IL6ST_ENST00000336909.5_Missense_Mutation_p.P668S|IL6ST_ENST00000381294.3_Missense_Mutation_p.P607S|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000381286.3_Silent_p.H43H|IL6ST_ENST00000502326.3_Missense_Mutation_p.P668S|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000381293.2_Silent_p.H180H	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	668					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				GGAGTGTGAGGTGACCACTGG	0.363			O		hepatocellular ca																																	ENST00000381298.2				Dom	yes		5	5q11	3572	O	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			E			hepatocellular ca		0				breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(2002-2004)Cct>Tct		interleukin 6 signal transducer (gp130, oncostatin M receptor)							96.0	94.0	95.0					5																	55238515		2203	4300	6503	SO:0001583	missense	3572				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	g.chr5:55238515G>A	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.2002C>T	5.37:g.55238515G>A	ENSP00000370698:p.Pro668Ser					IL6ST_ENST00000336909.5_Missense_Mutation_p.P668S|IL6ST_ENST00000381293.2_Silent_p.H180H|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000381286.3_Silent_p.H43H|IL6ST_ENST00000502326.3_Missense_Mutation_p.P668S|IL6ST_ENST00000381294.3_Missense_Mutation_p.P607S|IL6ST_ENST00000536319.1_3'UTR	p.P668S	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN			16	2314	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)	668					A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	37	c.2002C>T	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662867	0.88251	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294	T;T;T	0.46063	1.24;1.24;0.88	5.52	5.52	0.82312	.	0.099207	0.64402	N	0.000001	T	0.65729	0.2719	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.67027	-0.5774	10	0.87932	D	0	.	19.7971	0.96490	0.0:0.0:1.0:0.0	.	668;607;668	Q17RA0;Q5FC04;P40189	.;.;IL6RB_HUMAN	S	668;668;607	ENSP00000370698:P668S;ENSP00000338799:P668S;ENSP00000370694:P607S	ENSP00000338799:P668S	P	-	1	0	IL6ST	55274272	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.173000	0.89680	2.757000	0.94681	0.585000	0.79938	CCT		0.363	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		14	67	0	0	0	1	0	14	67				
GK2	2712	broad.mit.edu	37	4	80329310	80329310	+	Silent	SNP	C	C	T	rs574281533		TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr4:80329310C>T	ENST00000358842.3	-	1	62	c.45G>A	c.(43-45)gcG>gcA	p.A15A		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CCTGGACCACCGCTCCCACCA	0.552																																						ENST00000358842.3																			0				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(43-45)gcG>gcA		glycerol kinase 2							46.0	45.0	46.0					4																	80329310		2203	4300	6503	SO:0001819	synonymous_variant	2712				glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:80329310C>T	BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.45G>A	4.37:g.80329310C>T							p.A15A	NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN			1	62	-			15					Q7Z4Q4	Silent	SNP	ENST00000358842.3	37	c.45G>A	CCDS3585.1																																																																																				0.552	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		4	57	0	0	0	1	0	4	57				
MARCH1	55016	broad.mit.edu	37	4	164506901	164506901	+	Splice_Site	SNP	C	C	A			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr4:164506901C>A	ENST00000503008.1	-	6	1399	c.423G>T	c.(421-423)aaG>aaT	p.K141N	MARCH1_ENST00000274056.7_Splice_Site_p.K141N|MARCH1_ENST00000339875.5_Splice_Site_p.K124N|MARCH1_ENST00000514618.1_Splice_Site_p.K397N	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	141					antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GATACTGTACCTTCCGGAGGG	0.448																																						ENST00000503008.1																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.e6+1		membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase							110.0	102.0	105.0					4																	164506901		2203	4300	6503	SO:0001630	splice_region_variant	55016				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr4:164506901C>A	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.423+1G>T	4.37:g.164506901C>A						MARCH1_ENST00000274056.7_Splice_Site_p.K141_splice|MARCH1_ENST00000514618.1_Splice_Site_p.K397_splice|MARCH1_ENST00000339875.5_Splice_Site_p.K124_splice	p.K141_splice	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN			6	1399	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	141					D3DP29|Q9NWR0	Splice_Site	SNP	ENST00000503008.1	37	c.423_splice	CCDS54814.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827922	0.71143	.	.	ENSG00000145416	ENST00000274056;ENST00000503008;ENST00000514618;ENST00000339875;ENST00000507270	T;T;T;T;T	0.34859	1.81;1.81;1.34;1.4;1.63	5.57	4.74	0.60224	.	0.000000	0.64402	D	0.000001	T	0.41558	0.1164	M	0.79123	2.44	0.58432	D	0.999999	P;P	0.40602	0.723;0.511	B;B	0.38458	0.274;0.251	T	0.42464	-0.9450	10	0.41790	T	0.15	.	14.392	0.66986	0.0:0.929:0.0:0.071	.	141;124	Q8TCQ1;Q8TCQ1-2	MARH1_HUMAN;.	N	141;141;397;124;141	ENSP00000274056:K141N;ENSP00000427223:K141N;ENSP00000421322:K397N;ENSP00000345676:K124N;ENSP00000426731:K141N	ENSP00000274056:K141N	K	-	3	2	MARCH1	164726351	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.818000	0.86416	1.367000	0.46095	0.585000	0.79938	AAG		0.448	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923	Missense_Mutation	26	101	1	0	1.75199e-13	1	2.1468e-13	26	101				
SLC17A8	246213	broad.mit.edu	37	12	100795591	100795591	+	Missense_Mutation	SNP	C	C	A			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr12:100795591C>A	ENST00000323346.5	+	6	1026	c.713C>A	c.(712-714)gCt>gAt	p.A238D	snoU13_ENST00000459038.1_RNA|SLC17A8_ENST00000392989.3_Missense_Mutation_p.A238D	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	238					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						ATGCCCCTGGCTGGGGTGTTG	0.448																																						ENST00000323346.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						c.(712-714)gCt>gAt		solute carrier family 17 (vesicular glutamate transporter), member 8							299.0	283.0	289.0					12																	100795591		2203	4300	6503	SO:0001583	missense	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100795591C>A	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.713C>A	12.37:g.100795591C>A	ENSP00000316909:p.Ala238Asp					SLC17A8_ENST00000392989.3_Missense_Mutation_p.A238D	p.A238D	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN			6	1026	+			238					B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	37	c.713C>A	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136818	0.77662	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.61627	0.09;0.09	5.45	5.45	0.79879	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.80093	0.4560	M	0.87971	2.92	0.80722	D	1	D;D	0.65815	0.992;0.995	D;D	0.69142	0.958;0.962	T	0.83074	-0.0141	10	0.87932	D	0	.	19.661	0.95871	0.0:1.0:0.0:0.0	.	238;238	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	D	238	ENSP00000316909:A238D;ENSP00000376715:A238D	ENSP00000316909:A238D	A	+	2	0	SLC17A8	99319722	1.000000	0.71417	0.976000	0.42696	0.372000	0.29890	7.762000	0.85270	2.714000	0.92807	0.563000	0.77884	GCT		0.448	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		28	86	1	0	2.70662e-09	1	3.05813e-09	28	86				
SUPT20H	55578	broad.mit.edu	37	13	37607706	37607706	+	Missense_Mutation	SNP	T	T	C			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr13:37607706T>C	ENST00000350612.6	-	10	807	c.587A>G	c.(586-588)gAg>gGg	p.E196G	AL138706.1_ENST00000408173.1_RNA|SUPT20H_ENST00000542180.1_Missense_Mutation_p.E184G|SUPT20H_ENST00000464744.1_Missense_Mutation_p.E197G|SUPT20H_ENST00000475892.1_Missense_Mutation_p.E196G|SUPT20H_ENST00000356185.3_Missense_Mutation_p.E197G|SUPT20H_ENST00000360252.4_Missense_Mutation_p.E197G	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	196					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										GAGCTGGCTCTCAAGCAAAAG	0.373																																						ENST00000360252.4																			0											c.(589-591)gAg>gGg		suppressor of Ty 20 homolog (S. cerevisiae)							138.0	119.0	125.0					13																	37607706		2203	4300	6503	SO:0001583	missense	55578							g.chr13:37607706T>C	AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"""p38 interacting protein"", ""transcription factor (p38 interacting protein)"""	613417	"""chromosome 13 open reading frame 19"", ""family with sequence similarity 48, member A"""	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.587A>G	13.37:g.37607706T>C	ENSP00000218894:p.Glu196Gly					SUPT20H_ENST00000356185.3_Missense_Mutation_p.E197G|SUPT20H_ENST00000475892.1_Missense_Mutation_p.E196G|SUPT20H_ENST00000350612.6_Missense_Mutation_p.E196G|SUPT20H_ENST00000542180.1_Missense_Mutation_p.E184G|SUPT20H_ENST00000464744.1_Missense_Mutation_p.E197G	p.E197G	NM_001278481.1|NM_001278482.1|NM_017569.3	NP_001265410.1|NP_001265411.1|NP_060039.1					10	837	-								E7ER46|Q71RF3|Q9Y6A6	Missense_Mutation	SNP	ENST00000350612.6	37	c.590A>G	CCDS31959.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.625511	0.87560	.	.	ENSG00000102710	ENST00000360252;ENST00000475892;ENST00000350612;ENST00000356185;ENST00000536874;ENST00000464744;ENST00000542180	T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66;-0.66	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.86146	0.5863	M	0.88775	2.98	0.80722	D	1	P;P;D;D;P;P	0.60575	0.895;0.941;0.988;0.987;0.922;0.937	P;P;D;D;P;D	0.67382	0.85;0.85;0.951;0.951;0.895;0.951	D	0.88794	0.3280	10	0.87932	D	0	-8.8294	16.2421	0.82418	0.0:0.0:0.0:1.0	.	184;196;196;197;197;196	B4E2D5;B3KNI1;E7ER46;A8K8L1;Q8NEM7-2;Q8NEM7	.;.;.;.;.;FA48A_HUMAN	G	197;196;196;197;196;197;184	ENSP00000353388:E197G;ENSP00000417510:E196G;ENSP00000218894:E196G;ENSP00000348512:E197G;ENSP00000419754:E197G;ENSP00000439000:E184G	ENSP00000218894:E196G	E	-	2	0	FAM48A	36505706	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.642000	0.83385	2.234000	0.73211	0.533000	0.62120	GAG		0.373	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1	NM_017569		12	40	0	0	0	1	0	12	40				
KDM3B	51780	broad.mit.edu	37	5	137727794	137727794	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr5:137727794G>T	ENST00000314358.5	+	8	2673	c.2473G>T	c.(2473-2475)Gag>Tag	p.E825*	KDM3B_ENST00000394866.1_Nonsense_Mutation_p.E481*|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	825					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GAGTGACTCTGAGGAGCAGCT	0.557																																						ENST00000314358.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						c.(2473-2475)Gag>Tag		lysine (K)-specific demethylase 3B							67.0	73.0	71.0					5																	137727794		2203	4300	6503	SO:0001587	stop_gained	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137727794G>T	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.2473G>T	5.37:g.137727794G>T	ENSP00000326563:p.Glu825*					KDM3B_ENST00000394866.1_Nonsense_Mutation_p.E481*|KDM3B_ENST00000542866.1_Intron	p.E825*	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN			8	2673	+			825					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Nonsense_Mutation	SNP	ENST00000314358.5	37	c.2473G>T	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	G	36	5.950516	0.97139	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-16.8589	20.106	0.97895	0.0:0.0:1.0:0.0	.	.	.	.	X	825;615;481	.	ENSP00000326563:E825X	E	+	1	0	KDM3B	137755693	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	8.929000	0.92859	2.762000	0.94881	0.561000	0.74099	GAG		0.557	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		7	83	1	0	0.00307968	1	0.00315214	7	83				
GPR50	9248	broad.mit.edu	37	X	150349743	150349743	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chrX:150349743C>A	ENST00000218316.3	+	2	1757	c.1688C>A	c.(1687-1689)tCg>tAg	p.S563*	AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	563	Pro-rich.				cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCCTGAGTCGGCCTCTAGC	0.622																																						ENST00000218316.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38						c.(1687-1689)tCg>tAg		G protein-coupled receptor 50																																				SO:0001587	stop_gained	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150349743C>A	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.1688C>A	X.37:g.150349743C>A	ENSP00000218316:p.Ser563*						p.S563*	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN			2	1757	+	Acute lymphoblastic leukemia(192;6.56e-05)		563			Pro-rich.		Q0VGG3|Q3ZAR0	Nonsense_Mutation	SNP	ENST00000218316.3	37	c.1688C>A	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.813864	0.70912	.	.	ENSG00000102195	ENST00000218316	.	.	.	3.07	2.21	0.28008	.	1.301610	0.05663	N	0.587234	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.4415	7.5884	0.28006	0.0:0.8628:0.0:0.1372	.	.	.	.	X	563	.	ENSP00000218316:S563X	S	+	2	0	GPR50	150100401	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	0.659000	0.24994	0.698000	0.31739	0.292000	0.19580	TCG		0.622	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		50	8	1	0	4.64027e-19	1	5.76719e-19	50	8				
ACTL8	81569	broad.mit.edu	37	1	18152662	18152662	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr1:18152662C>T	ENST00000375406.1	+	3	965	c.749C>T	c.(748-750)cCc>cTc	p.P250L		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	250					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		GAGCTGACCCCCATGCAGCGG	0.632											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000375406.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28						c.(748-750)cCc>cTc		actin-like 8							41.0	46.0	44.0					1																	18152662		2203	4300	6503	SO:0001583	missense	81569					cytoplasm|cytoskeleton		g.chr1:18152662C>T	AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"""cancer/testis antigen 57"""						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.749C>T	1.37:g.18152662C>T	ENSP00000364555:p.Pro250Leu		OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	723		p.P250L	NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	3	965	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	250					Q13104|Q96M75	Missense_Mutation	SNP	ENST00000375406.1	37	c.749C>T	CCDS183.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.727332	0.69074	.	.	ENSG00000117148	ENST00000375406	D	0.94376	-3.41	4.42	3.42	0.39159	.	0.388130	0.19563	N	0.111285	D	0.93848	0.8032	M	0.62088	1.915	0.43255	D	0.995183	P	0.52170	0.951	P	0.55112	0.769	D	0.93468	0.6816	10	0.87932	D	0	-41.2223	9.7295	0.40352	0.0:0.7884:0.2115:0.0	.	250	Q9H568	ACTL8_HUMAN	L	250	ENSP00000364555:P250L	ENSP00000364555:P250L	P	+	2	0	ACTL8	18025249	0.336000	0.24757	0.573000	0.28510	0.602000	0.36980	3.145000	0.50623	2.424000	0.82194	0.655000	0.94253	CCC		0.632	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007143.1	NM_030812		6	33	0	0	0	1	0	6	33				
MOV10	4343	broad.mit.edu	37	1	113238156	113238156	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr1:113238156C>T	ENST00000413052.2	+	11	2129	c.1739C>T	c.(1738-1740)gCc>gTc	p.A580V	MOV10_ENST00000369644.1_Missense_Mutation_p.A524V|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Missense_Mutation_p.A580V|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000369645.1_Missense_Mutation_p.A580V	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	580					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CGCCTCCTGGCCCCCAGCAGG	0.597																																						ENST00000369644.1																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38						c.(1570-1572)gCc>gTc		Mov10, Moloney leukemia virus 10, homolog (mouse)							66.0	58.0	61.0					1																	113238156		2203	4300	6503	SO:0001583	missense	4343				mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	g.chr1:113238156C>T	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.1739C>T	1.37:g.113238156C>T	ENSP00000399797:p.Ala580Val					MOV10_ENST00000357443.2_Missense_Mutation_p.A580V|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000413052.2_Missense_Mutation_p.A580V|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000369645.1_Missense_Mutation_p.A580V	p.A524V			Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	12	2600	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	580					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	37	c.1571C>T	CCDS853.1	.	.	.	.	.	.	.	.	.	.	C	36	5.792699	0.96945	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61	5.67	5.67	0.87782	.	0.101356	0.64402	D	0.000002	D	0.90930	0.7149	M	0.82056	2.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.91268	0.5042	10	0.72032	D	0.01	-19.1957	19.3706	0.94481	0.0:1.0:0.0:0.0	.	524;580	Q5JR04;Q9HCE1	.;MOV10_HUMAN	V	580;580;524;580;518	ENSP00000399797:A580V;ENSP00000358659:A580V;ENSP00000358658:A524V;ENSP00000350028:A580V	ENSP00000350028:A580V	A	+	2	0	MOV10	113039679	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.782000	0.75073	2.676000	0.91093	0.655000	0.94253	GCC		0.597	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		8	17	0	0	0	1	0	8	17				
TCHHL1	126637	broad.mit.edu	37	1	152059578	152059578	+	Missense_Mutation	SNP	G	G	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr1:152059578G>T	ENST00000368806.1	-	3	644	c.580C>A	c.(580-582)Caa>Aaa	p.Q194K		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	194							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TGTATATCTTGAGCCACTTCC	0.438																																						ENST00000368806.1																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60						c.(580-582)Caa>Aaa		trichohyalin-like 1							157.0	142.0	147.0					1																	152059578		2203	4300	6503	SO:0001583	missense	126637						calcium ion binding	g.chr1:152059578G>T		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.580C>A	1.37:g.152059578G>T	ENSP00000357796:p.Gln194Lys						p.Q194K	NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	644	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		194					B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	c.580C>A	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	17.40	3.380589	0.61845	.	.	ENSG00000182898	ENST00000368806	T	0.33216	1.42	5.39	4.45	0.53987	.	0.193935	0.25622	N	0.029401	T	0.27866	0.0686	M	0.66939	2.045	0.09310	N	1	D	0.61080	0.989	P	0.55508	0.777	T	0.10474	-1.0628	10	0.16420	T	0.52	-1.4299	12.2668	0.54683	0.0:0.1696:0.8304:0.0	.	194	Q5QJ38	TCHL1_HUMAN	K	194	ENSP00000357796:Q194K	ENSP00000357796:Q194K	Q	-	1	0	TCHHL1	150326202	0.540000	0.26410	0.065000	0.19835	0.125000	0.20455	2.646000	0.46630	2.513000	0.84729	0.563000	0.77884	CAA		0.438	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		10	165	1	0	0.000673444	1	0.000697496	10	165				
FRG1B	284802	broad.mit.edu	37	20	29623203	29623203	+	Missense_Mutation	SNP	A	A	G			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr20:29623203A>G	ENST00000278882.3	+	3	395	c.15A>G	c.(13-15)atA>atG	p.I5M	FRG1B_ENST00000358464.4_Missense_Mutation_p.I5M|FRG1B_ENST00000439954.2_Missense_Mutation_p.I7V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	5										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGAACCTATATACATGCACT	0.393																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(13-15)atA>atG																																						SO:0001583	missense	0							g.chr20:29623203A>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.15A>G	20.37:g.29623203A>G	ENSP00000278882:p.Ile5Met					FRG1B_ENST00000439954.2_Missense_Mutation_p.I7V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I5M	p.I5M							3	395	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.15A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	9.002|9.002	0.980357|0.980357	0.18812|0.18812	.|.	.|.	ENSG00000149531|ENSG00000149531	ENST00000278882;ENST00000358464|ENST00000439954	.|T	.|0.41065	.|1.01	1.93|1.93	1.93|1.93	0.25924|0.25924	.|.	1.064830|1.064830	0.07313|0.07313	U|U	0.876263|0.876263	T|T	0.17066|0.17066	0.0410|0.0410	.|.	.|.	.|.	0.22531|0.22531	N|N	0.999017|0.999017	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.18209|0.18209	-1.0344|-1.0344	6|7	0.48119|0.02654	T|T	0.1|1	.|.	7.8149|7.8149	0.29254|0.29254	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	M|V	5|7	.|ENSP00000408863:I7V	ENSP00000278882:I5M|ENSP00000408863:I7V	I|I	+|+	3|1	3|0	FRG1B|FRG1B	28236864|28236864	1.000000|1.000000	0.71417|0.71417	0.978000|0.978000	0.43139|0.43139	0.171000|0.171000	0.22731|0.22731	6.018000|6.018000	0.70811|0.70811	1.147000|1.147000	0.42369|0.42369	0.347000|0.347000	0.21830|0.21830	ATA|ATA		0.393	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	484	0	0	0	1	0	6	484				
CNTNAP1	8506	broad.mit.edu	37	17	40836068	40836068	+	Missense_Mutation	SNP	T	T	A			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr17:40836068T>A	ENST00000264638.4	+	3	401	c.184T>A	c.(184-186)Tca>Aca	p.S62T	CTD-3193K9.4_ENST00000593139.1_RNA|CCR10_ENST00000591765.1_5'Flank|CCR10_ENST00000332438.4_5'Flank|CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	62	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		AAGCGGGTGGTCACCACGGAT	0.592																																						ENST00000264638.4																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(184-186)Tca>Aca		contactin associated protein 1							74.0	84.0	80.0					17																	40836068		2203	4300	6503	SO:0001583	missense	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40836068T>A	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.184T>A	17.37:g.40836068T>A	ENSP00000264638:p.Ser62Thr					CTD-3193K9.3_ENST00000592440.1_RNA	p.S62T	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	3	401	+		Breast(137;0.000143)	62			F5/8 type C.			Missense_Mutation	SNP	ENST00000264638.4	37	c.184T>A	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.686631	0.88639	.	.	ENSG00000108797	ENST00000264638	D	0.98400	-4.91	5.42	5.42	0.78866	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.000000	0.56097	D	0.000036	D	0.97517	0.9187	L	0.46614	1.455	0.51233	D	0.999916	P	0.48162	0.906	P	0.52646	0.705	D	0.97057	0.9768	10	0.31617	T	0.26	.	15.1306	0.72520	0.0:0.0:0.0:1.0	.	62	P78357	CNTP1_HUMAN	T	62	ENSP00000264638:S62T	ENSP00000264638:S62T	S	+	1	0	CNTNAP1	38089594	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.742000	0.55097	2.063000	0.61619	0.379000	0.24179	TCA		0.592	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		51	48	0	0	0	1	0	51	48				
ZBED2	79413	broad.mit.edu	37	3	111312954	111312954	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr3:111312954C>T	ENST00000317012.4	-	2	1103	c.95G>A	c.(94-96)gGa>gAa	p.G32E	CD96_ENST00000438817.2_Intron|CD96_ENST00000352690.4_Intron|CD96_ENST00000283285.5_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	32							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(1)|skin(2)	6						AACCAGTTCTCCTGTCTCACT	0.522																																						ENST00000317012.4																			0				large_intestine(3)|lung(1)|skin(2)	6						c.(94-96)gGa>gAa		zinc finger, BED-type containing 2							266.0	219.0	235.0					3																	111312954		2203	4300	6503	SO:0001583	missense	79413						DNA binding|metal ion binding	g.chr3:111312954C>T	BC003536	CCDS2960.2	3p13-q13.2	2013-05-03			ENSG00000177494	ENSG00000177494		"""Zinc fingers, BED-type"""	20710	protein-coding gene	gene with protein product		615246				23533661	Standard	NM_024508		Approved	MGC10796	uc003dxy.3	Q9BTP6	OTTHUMG00000074061	ENST00000317012.4:c.95G>A	3.37:g.111312954C>T	ENSP00000321370:p.Gly32Glu					CD96_ENST00000438817.2_Intron|CD96_ENST00000283285.5_Intron|CD96_ENST00000352690.4_Intron	p.G32E	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN			2	1103	-			32					D3DN62	Missense_Mutation	SNP	ENST00000317012.4	37	c.95G>A	CCDS2960.2	.	.	.	.	.	.	.	.	.	.	C	9.360	1.067688	0.20067	.	.	ENSG00000177494	ENST00000317012	.	.	.	3.16	1.25	0.21368	.	.	.	.	.	T	0.24005	0.0581	N	0.24115	0.695	0.09310	N	1	B	0.12630	0.006	B	0.14578	0.011	T	0.21518	-1.0243	8	0.24483	T	0.36	.	4.4441	0.11588	0.0:0.6318:0.2321:0.1361	.	32	Q9BTP6	ZBED2_HUMAN	E	32	.	ENSP00000321370:G32E	G	-	2	0	ZBED2	112795644	0.019000	0.18553	0.036000	0.18154	0.190000	0.23558	0.738000	0.26158	0.164000	0.19529	-0.251000	0.11542	GGA		0.522	ZBED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157228.2	NM_024508		20	23	0	0	0	1	0	20	23				
BCKDK	10295	broad.mit.edu	37	16	31122508	31122508	+	Silent	SNP	C	C	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr16:31122508C>T	ENST00000394951.1	+	10	1436	c.813C>T	c.(811-813)taC>taT	p.Y271Y	BCKDK_ENST00000287507.3_Silent_p.Y271Y|BCKDK_ENST00000219794.6_Silent_p.Y271Y|AC135050.1_ENST00000517000.2_RNA|BCKDK_ENST00000394950.3_Silent_p.Y271Y			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	271	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				branched-chain amino acid catabolic process (GO:0009083)|cellular amino acid catabolic process (GO:0009063)|phosphorylation (GO:0016310)|protein phosphorylation (GO:0006468)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrion (GO:0005739)	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity (GO:0047323)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|stomach(1)	2						CACTGGACTACATCCTGCCGG	0.602																																						ENST00000394951.1																			0				breast(1)|stomach(1)	2						c.(811-813)taC>taT		branched chain ketoacid dehydrogenase kinase							82.0	74.0	77.0					16																	31122508		2197	4300	6497	SO:0001819	synonymous_variant	10295				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity	g.chr16:31122508C>T	AF026548	CCDS10705.1, CCDS45467.1, CCDS61917.1	16p11.2	2008-05-14			ENSG00000103507	ENSG00000103507			16902	protein-coding gene	gene with protein product		614901				1889817	Standard	NM_005881		Approved		uc002eaw.5	O14874	OTTHUMG00000047356	ENST00000394951.1:c.813C>T	16.37:g.31122508C>T						BCKDK_ENST00000219794.6_Silent_p.Y271Y|BCKDK_ENST00000287507.3_Silent_p.Y271Y|BCKDK_ENST00000394950.3_Silent_p.Y271Y	p.Y271Y			O14874	BCKD_HUMAN			10	1436	+			271			Histidine kinase.		A8MY43|Q6FGL4|Q96G95|Q96IN5	Silent	SNP	ENST00000394951.1	37	c.813C>T	CCDS10705.1																																																																																				0.602	BCKDK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108514.1	NM_005881		8	27	0	0	0	1	0	8	27				
TLE1	7088	broad.mit.edu	37	9	84202653	84202653	+	Silent	SNP	G	G	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr9:84202653G>T	ENST00000376499.3	-	17	2984	c.1920C>A	c.(1918-1920)gtC>gtA	p.V640V		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	640					multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						CCCAGGACCTGACTGTGTTGT	0.597																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	ENST00000376499.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						c.(1918-1920)gtC>gtA		transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)							67.0	65.0	66.0					9																	84202653		2203	4300	6503	SO:0001819	synonymous_variant	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84202653G>T		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"""WD repeat domain containing"""	11837	protein-coding gene	gene with protein product	"""enhancer of split groucho 1"""	600189	"""transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"""			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.1920C>A	9.37:g.84202653G>T							p.V640V	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN			17	2984	-			640					A8K495|Q5T3G4|Q969V9	Silent	SNP	ENST00000376499.3	37	c.1920C>A	CCDS6661.1																																																																																				0.597	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077		3	32	1	0	1	1	1	3	32				
AHSP	51327	broad.mit.edu	37	16	31539920	31539920	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr16:31539920G>T	ENST00000302312.4	+	3	320	c.217G>T	c.(217-219)Gag>Tag	p.E73*	AHSP_ENST00000569954.1_3'UTR	NM_016633.2	NP_057717.1	Q9NZD4	AHSP_HUMAN	alpha hemoglobin stabilizing protein	73					hemoglobin metabolic process (GO:0020027)|hemopoiesis (GO:0030097)|protein folding (GO:0006457)|protein stabilization (GO:0050821)	hemoglobin complex (GO:0005833)	hemoglobin binding (GO:0030492)|unfolded protein binding (GO:0051082)			lung(2)	2						GCTTCGGCAAGAGCTGAACAC	0.572																																						ENST00000302312.4																			0				lung(2)	2						c.(217-219)Gag>Tag		alpha hemoglobin stabilizing protein							71.0	63.0	66.0					16																	31539920		2197	4300	6497	SO:0001587	stop_gained	51327				hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization	hemoglobin complex	hemoglobin binding|unfolded protein binding	g.chr16:31539920G>T	AF208865	CCDS10716.1	16p11.1	2009-10-07	2009-10-07	2009-10-07	ENSG00000169877	ENSG00000169877			18075	protein-coding gene	gene with protein product	"""alpha hemoglobin stabilising protein"""	605821	"""erythroid associated factor"""	ERAF		11231637, 12066189	Standard	XM_005255352		Approved	EDRF	uc002ecj.3	Q9NZD4	OTTHUMG00000132461	ENST00000302312.4:c.217G>T	16.37:g.31539920G>T	ENSP00000307199:p.Glu73*					AHSP_ENST00000569954.1_3'UTR	p.E73*	NM_016633.2	NP_057717.1	Q9NZD4	AHSP_HUMAN			3	320	+			73					Q8TD01	Nonsense_Mutation	SNP	ENST00000302312.4	37	c.217G>T	CCDS10716.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560858	0.27827	.	.	ENSG00000169877	ENST00000302312	.	.	.	5.54	2.51	0.30379	.	0.595999	0.15985	N	0.235101	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	5.2483	0.15508	0.1798:0.1693:0.6509:0.0	.	.	.	.	X	73	.	ENSP00000307199:E73X	E	+	1	0	AHSP	31447421	0.609000	0.26975	0.496000	0.27539	0.112000	0.19704	0.445000	0.21677	0.696000	0.31696	-0.140000	0.14226	GAG		0.572	AHSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255624.1	NM_016633		7	29	1	0	8.12818e-05	1	8.62381e-05	7	29				
HEATR5A	25938	broad.mit.edu	37	14	31765178	31765178	+	Silent	SNP	G	G	A			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr14:31765178G>A	ENST00000389961.3	-	33	5537	c.5538C>T	c.(5536-5538)atC>atT	p.I1846I	HEATR5A_ENST00000439348.1_Silent_p.I1771I|HEATR5A_ENST00000543095.2_Silent_p.I1852I|HEATR5A_ENST00000439727.1_Silent_p.I1559I|RP11-596D21.1_ENST00000551799.1_RNA			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1846										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		GAAGGCATGGGATGGTAGTTA	0.368																																						ENST00000543095.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26						c.(5554-5556)atC>atT		HEAT repeat containing 5A							171.0	162.0	165.0					14																	31765178		1879	4120	5999	SO:0001819	synonymous_variant	25938						binding	g.chr14:31765178G>A	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.5538C>T	14.37:g.31765178G>A						HEATR5A_ENST00000389961.3_Silent_p.I1846I|HEATR5A_ENST00000439727.1_Silent_p.I1559I|HEATR5A_ENST00000439348.1_Silent_p.I1771I|RP11-596D21.1_ENST00000551799.1_RNA	p.I1852I	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	34	5740	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		1846					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Silent	SNP	ENST00000389961.3	37	c.5556C>T		.	.	.	.	.	.	.	.	.	.	G	9.926	1.213636	0.22289	.	.	ENSG00000129493	ENST00000538864	.	.	.	5.8	3.97	0.46021	.	.	.	.	.	T	0.45357	0.1338	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42716	-0.9435	4	.	.	.	-2.8997	2.4447	0.04503	0.1542:0.2358:0.4647:0.1453	.	.	.	.	F	1405	.	.	S	-	2	0	HEATR5A	30834929	0.622000	0.27085	1.000000	0.80357	0.996000	0.88848	-0.201000	0.09464	1.449000	0.47699	0.591000	0.81541	TCC		0.368	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		13	47	0	0	0	1	0	13	47				
SART3	9733	broad.mit.edu	37	12	108931976	108931976	+	Missense_Mutation	SNP	G	G	C			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr12:108931976G>C	ENST00000228284.3	-	8	1300	c.1066C>G	c.(1066-1068)Cga>Gga	p.R356G	SART3_ENST00000431469.2_Missense_Mutation_p.R356G	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	356					cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R356*(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						TTCAGTTGTCGATCCTATGAT	0.408									Porokeratosis																													ENST00000228284.3																			1	Substitution - Nonsense(1)	p.R356*(1)	endometrium(1)	NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						c.(1066-1068)Cga>Gga		squamous cell carcinoma antigen recognized by T cells 3							103.0	103.0	103.0					12																	108931976		2203	4300	6503	SO:0001583	missense	9733	Porokeratosis	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr12:108931976G>C	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"""RNA binding motif (RRM) containing"""	16860	protein-coding gene	gene with protein product		611684	"""squamous cell carcinoma antigen recognised by T cells 3"""			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.1066C>G	12.37:g.108931976G>C	ENSP00000228284:p.Arg356Gly					SART3_ENST00000431469.2_Missense_Mutation_p.R356G	p.R356G	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN			8	1300	-			356					A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Missense_Mutation	SNP	ENST00000228284.3	37	c.1066C>G	CCDS9117.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094817	0.36952	.	.	ENSG00000075856	ENST00000228284;ENST00000431469;ENST00000412617;ENST00000546815	T;T;T	0.33654	1.4;1.4;1.4	6.16	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.47525	0.1450	L	0.46741	1.465	0.80722	D	1	D;D;D;D	0.69078	0.957;0.985;0.997;0.997	P;P;P;P	0.60236	0.673;0.761;0.871;0.871	T	0.31971	-0.9924	10	0.22109	T	0.4	-29.7315	14.6958	0.69121	0.0:0.0:0.6274:0.3726	.	304;374;356;356	E7EMI4;F8VV04;B7ZKM0;Q15020	.;.;.;SART3_HUMAN	G	356;356;304;374	ENSP00000228284:R356G;ENSP00000414453:R356G;ENSP00000449386:R374G	ENSP00000228284:R356G	R	-	1	2	SART3	107456106	1.000000	0.71417	0.994000	0.49952	0.048000	0.14542	4.395000	0.59678	1.611000	0.50210	-0.175000	0.13238	CGA		0.408	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404094.1			12	35	0	0	0	1	0	12	35				
FAM208B	54906	broad.mit.edu	37	10	5789870	5789870	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr10:5789870C>T	ENST00000328090.5	+	15	5111	c.4486C>T	c.(4486-4488)Cct>Tct	p.P1496S		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1496																	ACCAACCCTTCCTGGTAAAGT	0.453																																						ENST00000328090.5																			0											c.(4486-4488)Cct>Tct		family with sequence similarity 208, member B							52.0	51.0	51.0					10																	5789870		1903	4115	6018	SO:0001583	missense	54906							g.chr10:5789870C>T	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.4486C>T	10.37:g.5789870C>T	ENSP00000328426:p.Pro1496Ser						p.P1496S	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			15	5111	+			1496					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.4486C>T	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	C	2.783	-0.252958	0.05829	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.04406	3.63	5.39	2.47	0.30058	.	0.610418	0.15561	N	0.255911	T	0.03608	0.0103	L	0.34521	1.04	0.09310	N	1	B	0.30584	0.286	B	0.21546	0.035	T	0.42068	-0.9473	10	0.46703	T	0.11	.	4.8307	0.13439	0.1699:0.6502:0.0:0.1799	.	1496	Q5VWN6	F208B_HUMAN	S	1496;691	ENSP00000328426:P1496S	ENSP00000328426:P1496S	P	+	1	0	C10orf18	5829876	0.001000	0.12720	0.000000	0.03702	0.087000	0.18053	0.857000	0.27831	0.236000	0.21180	0.655000	0.94253	CCT		0.453	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		17	50	0	0	0	1	0	17	50				
ADCY2	108	broad.mit.edu	37	5	7826908	7826908	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr5:7826908G>A	ENST00000338316.4	+	25	3289	c.3200G>A	c.(3199-3201)gGa>gAa	p.G1067E	ADCY2_ENST00000537121.1_Missense_Mutation_p.G887E	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	1067					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						AACGTGAAAGGAAAGGGGGAC	0.512																																						ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(3199-3201)gGa>gAa		adenylate cyclase 2 (brain)							116.0	100.0	105.0					5																	7826908		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7826908G>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.3200G>A	5.37:g.7826908G>A	ENSP00000342952:p.Gly1067Glu					ADCY2_ENST00000537121.1_Missense_Mutation_p.G887E	p.G1067E	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			25	3289	+			1067					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.3200G>A	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904897	0.92035	.	.	ENSG00000078295	ENST00000338316;ENST00000382532;ENST00000541993;ENST00000537121	T;T	0.52295	0.67;0.67	5.43	5.43	0.79202	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.055426	0.64402	D	0.000001	T	0.82162	0.4977	H	0.98351	4.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89304	0.3628	10	0.87932	D	0	.	19.2668	0.93990	0.0:0.0:1.0:0.0	.	887;1067	B7Z2C1;Q08462	.;ADCY2_HUMAN	E	1067;179;900;887	ENSP00000342952:G1067E;ENSP00000444803:G887E	ENSP00000342952:G1067E	G	+	2	0	ADCY2	7879908	1.000000	0.71417	0.770000	0.31555	0.880000	0.50808	7.702000	0.84576	2.547000	0.85894	0.591000	0.81541	GGA		0.512	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		11	42	0	0	0	1	0	11	42				
LCK	3932	broad.mit.edu	37	1	32745333	32745333	+	Silent	SNP	G	G	A			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr1:32745333G>A	ENST00000336890.5	+	10	1164	c.1026G>A	c.(1024-1026)ctG>ctA	p.L342L	LCK_ENST00000333070.4_Silent_p.L372L|LCK_ENST00000373564.3_Silent_p.L349L	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase	342	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aging (GO:0007568)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular zinc ion homeostasis (GO:0006882)|dephosphorylation (GO:0016311)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hemopoiesis (GO:0030097)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|positive regulation of uterine smooth muscle contraction (GO:0070474)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of defense response to virus by virus (GO:0050690)|regulation of lymphocyte activation (GO:0051249)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to zinc ion (GO:0010043)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|pericentriolar material (GO:0000242)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|ATP binding (GO:0005524)|ATPase binding (GO:0051117)|CD4 receptor binding (GO:0042609)|CD8 receptor binding (GO:0042610)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine kinase activity (GO:0004713)|SH2 domain binding (GO:0042169)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)|Ponatinib(DB08901)	ACAAACTCCTGGACATGGCAG	0.557			T	TRB@	T-ALL																																	ENST00000333070.4				Dom	yes		1	1p35-p34.3	3932	T	lymphocyte-specific protein tyrosine kinase			L	TRB@		T-ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(1114-1116)ctG>ctA		lymphocyte-specific protein tyrosine kinase	Dasatinib(DB01254)						122.0	129.0	127.0					1																	32745333		2203	4300	6503	SO:0001819	synonymous_variant	3932				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding	g.chr1:32745333G>A	M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	2.7.10.1	"""SH2 domain containing"""	6524	protein-coding gene	gene with protein product		153390	"""lymphocyte-specific protein tyrosine kinase"""			2787474	Standard	XM_005270862		Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000336890.5:c.1026G>A	1.37:g.32745333G>A						LCK_ENST00000336890.5_Silent_p.L342L|LCK_ENST00000373564.3_Silent_p.L349L	p.L372L	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN			10	1216	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)	342			Protein kinase.		D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Silent	SNP	ENST00000336890.5	37	c.1116G>A	CCDS359.1																																																																																				0.557	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019616.4	NM_005356		74	157	0	0	0	1	0	74	157				
TAS2R43	259289	broad.mit.edu	37	12	11244069	11244069	+	Missense_Mutation	SNP	T	T	G			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr12:11244069T>G	ENST00000531678.1	-	1	843	c.760A>C	c.(760-762)Agt>Cgt	p.S254R	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	254					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TTTTCCAGACTTCCAAAACTC	0.393																																						ENST00000531678.1																			0				endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5						c.(760-762)Agt>Cgt		taste receptor, type 2, member 43							137.0	121.0	126.0					12																	11244069		2024	3796	5820	SO:0001583	missense	259289				detection of chemical stimulus involved in sensory perception of bitter taste	cilium membrane|motile cilium	bitter taste receptor activity	g.chr12:11244069T>G	AF494237	CCDS53749.1	12p13.2	2012-08-22				ENSG00000255374		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18875	protein-coding gene	gene with protein product		612668				12379855	Standard	NM_176884		Approved	T2R52	uc001qzq.1	P59537		ENST00000531678.1:c.760A>C	12.37:g.11244069T>G	ENSP00000431719:p.Ser254Arg					TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.S254R	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)	1	843	-			254					P59546|Q645X4	Missense_Mutation	SNP	ENST00000531678.1	37	c.760A>C	CCDS53749.1	.	.	.	.	.	.	.	.	.	.	-	0.007	-1.997933	0.00435	.	.	ENSG00000255374	ENST00000531678	T	0.00730	5.77	2.54	-3.83	0.04269	.	.	.	.	.	T	0.00241	0.0007	N	0.00729	-1.24	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44065	-0.9352	9	0.08381	T	0.77	.	0.5343	0.00634	0.2002:0.1497:0.2028:0.4473	.	254	P59537	T2R43_HUMAN	R	254	ENSP00000431719:S254R	ENSP00000431719:S254R	S	-	1	0	TAS2R43	11135336	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.304000	0.02741	-0.406000	0.07588	0.164000	0.16699	AGT		0.393	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383561.1	NM_176884		5	42	0	0	0	1	0	5	42				
LNPEP	4012	broad.mit.edu	37	5	96362364	96362364	+	Nonsense_Mutation	SNP	A	A	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr5:96362364A>T	ENST00000231368.5	+	16	3459	c.2767A>T	c.(2767-2769)Aag>Tag	p.K923*	LNPEP_ENST00000395770.3_Nonsense_Mutation_p.K909*	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	923					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		CCGAACACAGAAGCTGTCTTT	0.383																																						ENST00000231368.5																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34						c.(2767-2769)Aag>Tag		leucyl/cystinyl aminopeptidase							111.0	106.0	108.0					5																	96362364		2203	4300	6503	SO:0001587	stop_gained	4012				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96362364A>T	D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"""cystinyl aminopeptidase"", ""placental leucine aminopeptidase"""	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.2767A>T	5.37:g.96362364A>T	ENSP00000231368:p.Lys923*					LNPEP_ENST00000395770.3_Nonsense_Mutation_p.K909*	p.K923*	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN		COAD - Colon adenocarcinoma(37;0.072)	16	3459	+		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)	923					O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Nonsense_Mutation	SNP	ENST00000231368.5	37	c.2767A>T	CCDS4087.1	.	.	.	.	.	.	.	.	.	.	A	43	10.025729	0.99320	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	.	.	.	6.17	6.17	0.99709	.	0.044047	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	6.957	0.24576	0.8214:0.0:0.1786:0.0	.	.	.	.	X	923;909	.	ENSP00000231368:K923X	K	+	1	0	LNPEP	96388120	1.000000	0.71417	0.979000	0.43373	0.902000	0.53008	6.577000	0.74027	2.371000	0.80710	0.533000	0.62120	AAG		0.383	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575		21	39	0	0	0	1	0	21	39				
RETSAT	54884	broad.mit.edu	37	2	85573211	85573211	+	Missense_Mutation	SNP	C	C	A			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr2:85573211C>A	ENST00000295802.4	-	6	1116	c.1004G>T	c.(1003-1005)aGt>aTt	p.S335I	RETSAT_ENST00000475624.2_5'UTR|RETSAT_ENST00000457495.2_Missense_Mutation_p.S274I|RETSAT_ENST00000263854.6_Missense_Mutation_p.S335I	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	335					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	CTTCTTCACACTGACACCTGC	0.572																																						ENST00000295802.4																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(1003-1005)aGt>aTt		retinol saturase (all-trans-retinol 13,14-reductase)	Vitamin A(DB00162)						147.0	133.0	138.0					2																	85573211		2203	4300	6503	SO:0001583	missense	54884				retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	g.chr2:85573211C>A	AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.1004G>T	2.37:g.85573211C>A	ENSP00000295802:p.Ser335Ile					RETSAT_ENST00000475624.2_5'UTR|RETSAT_ENST00000457495.2_Missense_Mutation_p.S274I|RETSAT_ENST00000263854.6_Missense_Mutation_p.S335I	p.S335I	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN			6	1116	-			335					A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Missense_Mutation	SNP	ENST00000295802.4	37	c.1004G>T	CCDS1972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.70|14.70	2.615015|2.615015	0.46631|0.46631	.|.	.|.	ENSG00000042445|ENSG00000042445	ENST00000295802;ENST00000263854;ENST00000457495|ENST00000449375	T;T;T|.	0.58506|.	0.33;0.33;0.33|.	5.65|5.65	3.86|3.86	0.44501|0.44501	.|.	0.126189|.	0.64402|.	D|.	0.000001|.	T|T	0.62208|0.62208	0.2409|0.2409	M|M	0.64997|0.64997	1.995|1.995	0.41010|0.41010	D|D	0.984997|0.984997	B;B;B|.	0.20988|.	0.024;0.05;0.036|.	B;B;B|.	0.25506|.	0.061;0.061;0.028|.	T|T	0.60021|0.60021	-0.7344|-0.7344	10|5	0.34782|.	T|.	0.22|.	-5.4458|-5.4458	9.3776|9.3776	0.38292|0.38292	0.1417:0.522:0.3363:0.0|0.1417:0.522:0.3363:0.0	.|.	274;274;335|.	G5E9N3;B4DKE1;Q6NUM9|.	.;.;RETST_HUMAN|.	I|L	335;335;274|124	ENSP00000295802:S335I;ENSP00000263854:S335I;ENSP00000405040:S274I|.	ENSP00000263854:S335I|.	S|V	-|-	2|1	0|0	RETSAT|RETSAT	85426722|85426722	0.019000|0.019000	0.18553|0.18553	0.999000|0.999000	0.59377|0.59377	0.992000|0.992000	0.81027|0.81027	0.342000|0.342000	0.19926|0.19926	0.737000|0.737000	0.32582|0.32582	0.467000|0.467000	0.42956|0.42956	AGT|GTG		0.572	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	NM_017750		9	81	1	0	1.58986e-06	1	1.72898e-06	9	81				
RAVER1	125950	broad.mit.edu	37	19	10434100	10434100	+	Missense_Mutation	SNP	C	C	G			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr19:10434100C>G	ENST00000293677.6	-	4	1031	c.950G>C	c.(949-951)gGg>gCg	p.G317A	CTD-2369P2.12_ENST00000586529.1_5'Flank	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	300	Interaction with PTBP1. {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			GCCGGGGGGCCCAGGGGCGCA	0.721																																						ENST00000293677.6																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18						c.(949-951)gGg>gCg		ribonucleoprotein, PTB-binding 1							11.0	15.0	14.0					19																	10434100		1973	4157	6130	SO:0001583	missense	125950					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr19:10434100C>G		CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"""RNA binding motif (RRM) containing"""	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.950G>C	19.37:g.10434100C>G	ENSP00000293677:p.Gly317Ala						p.G317A	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		4	1031	-			300			Interaction with PTBP1 (By similarity).		A6NMU4|Q8IY60|Q8TF24	Missense_Mutation	SNP	ENST00000293677.6	37	c.950G>C	CCDS45960.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209886	0.79240	.	.	ENSG00000161847	ENST00000293677;ENST00000331131	T	0.06068	3.35	4.65	4.65	0.58169	.	0.142365	0.45606	D	0.000357	T	0.09202	0.0227	M	0.68317	2.08	0.51482	D	0.999922	P	0.35456	0.502	B	0.27170	0.077	T	0.05257	-1.0896	10	0.66056	D	0.02	-14.1743	14.9961	0.71433	0.0:1.0:0.0:0.0	.	317	E9PAU2	.	A	317;300	ENSP00000293677:G317A	ENSP00000293677:G317A	G	-	2	0	RAVER1	10295100	1.000000	0.71417	0.888000	0.34837	0.911000	0.54048	7.279000	0.78599	2.142000	0.66516	0.511000	0.50034	GGG		0.721	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451227.1	NM_133452		9	12	0	0	0	1	0	9	12				
DNM1P47	100216544	broad.mit.edu	37	15	102303100	102303100	+	RNA	SNP	C	C	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr15:102303100C>T	ENST00000561463.1	+	0	11146									DNM1 pseudogene 47																		ACCGGTGCGACGAGATGCTGC	0.587																																						ENST00000561463.1																			0																																																			0							g.chr15:102303100C>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102303100C>T														0	11146	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.587	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	14	0	0	0	1	0	3	14				
IGF2	3481	broad.mit.edu	37	11	2154249	2154249	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr11:2154249C>T	ENST00000416167.2	-	4	1677	c.511G>A	c.(511-513)Gcc>Acc	p.A171T	IGF2_ENST00000381406.4_Missense_Mutation_p.A174T|IGF2_ENST00000381392.1_Missense_Mutation_p.A174T|IGF2_ENST00000418738.2_Missense_Mutation_p.A171T|IGF2_ENST00000300632.5_Missense_Mutation_p.A171T|IGF2_ENST00000434045.2_Missense_Mutation_p.A227T|IGF2_ENST00000381389.1_Missense_Mutation_p.A171T|IGF2_ENST00000381395.1_Missense_Mutation_p.A171T|MIR483_ENST00000385070.1_RNA			P01344	IGF2_HUMAN	insulin-like growth factor 2	171					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|exocrine pancreas development (GO:0031017)|female pregnancy (GO:0007565)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|striated muscle cell differentiation (GO:0051146)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	growth factor activity (GO:0008083)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|protein serine/threonine kinase activator activity (GO:0043539)|receptor activator activity (GO:0030546)			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		TCTGGGGGGGCGCCCCCGTGG	0.667																																						ENST00000416167.2																			0				central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6						c.(511-513)Gcc>Acc		insulin-like growth factor 2 (somatomedin A)							52.0	68.0	62.0					11																	2154249		2201	4297	6498	SO:0001583	missense	3481				glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity	g.chr11:2154249C>T	M29645, AK025719	CCDS7728.1, CCDS44517.1	11p15.5	2014-09-16	2014-09-16		ENSG00000167244	ENSG00000167244			5466	protein-coding gene	gene with protein product	"""somatomedin A"""	147470	"""chromosome 11 open reading frame 43"""	C11orf43		2450353, 3167054	Standard	NM_000612		Approved	FLJ44734, IGF-II	uc009ydf.3	P01344	OTTHUMG00000009395	ENST00000416167.2:c.511G>A	11.37:g.2154249C>T	ENSP00000414497:p.Ala171Thr					IGF2_ENST00000337883.6_Missense_Mutation_p.A171T|IGF2_ENST00000418738.2_Missense_Mutation_p.A171T|IGF2_ENST00000381395.1_Missense_Mutation_p.A171T|IGF2_ENST00000434045.2_Missense_Mutation_p.A227T|IGF2_ENST00000381392.1_Missense_Mutation_p.A174T|IGF2_ENST00000381406.4_Missense_Mutation_p.A174T|IGF2_ENST00000300632.5_Missense_Mutation_p.A171T|IGF2_ENST00000381389.1_Missense_Mutation_p.A171T	p.A171T			P01344	IGF2_HUMAN	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)	4	1677	-		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	171					B3KX48|B7WP08|C9JAF2|E3UN45|P78449|Q14299|Q1WM26|Q9UC68|Q9UC69	Missense_Mutation	SNP	ENST00000416167.2	37	c.511G>A	CCDS7728.1	.	.	.	.	.	.	.	.	.	.	C	11.61	1.688590	0.29962	.	.	ENSG00000167244	ENST00000381395;ENST00000381406;ENST00000416167;ENST00000300632;ENST00000381319;ENST00000434045;ENST00000381392;ENST00000381389;ENST00000418738;ENST00000337883;ENST00000381379	D;D;D;D;D;D;D;D;D	0.94280	-3.3;-3.27;-3.3;-3.3;-3.39;-3.27;-3.3;-3.3;-3.3	3.06	-3.35	0.04928	Insulin-like growth factor II E-peptide, C-terminal (1);	0.574647	0.16674	N	0.204242	D	0.82314	0.5010	L	0.28458	0.855	0.19945	N	0.999941	B;B	0.19073	0.015;0.033	B;B	0.10450	0.005;0.005	T	0.68349	-0.5432	10	0.21540	T	0.41	.	0.6949	0.00897	0.1617:0.3153:0.1783:0.3447	.	227;171	C9JAF2;P01344	.;IGF2_HUMAN	T	171;174;171;171;174;227;174;171;171;171;174	ENSP00000370802:A171T;ENSP00000370813:A174T;ENSP00000414497:A171T;ENSP00000300632:A171T;ENSP00000391826:A227T;ENSP00000370799:A174T;ENSP00000370796:A171T;ENSP00000402047:A171T;ENSP00000338297:A171T	ENSP00000300632:A171T	A	-	1	0	IGF2	2110825	0.040000	0.19996	0.000000	0.03702	0.014000	0.08584	0.303000	0.19210	-0.923000	0.03785	-1.449000	0.01048	GCC		0.667	IGF2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026053.2	NM_000612		33	60	0	0	0	1	0	33	60				
VPS13D	55187	broad.mit.edu	37	1	12438521	12438521	+	Missense_Mutation	SNP	A	A	G			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr1:12438521A>G	ENST00000358136.3	+	56	11087	c.10957A>G	c.(10957-10959)Aca>Gca	p.T3653A	VPS13D_ENST00000356315.4_Missense_Mutation_p.T3628A|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GATGACAGGAACAGGAATGCT	0.537																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(10957-10959)Aca>Gca		vacuolar protein sorting 13 homolog D (S. cerevisiae)							89.0	85.0	86.0					1																	12438521		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12438521A>G	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.10957A>G	1.37:g.12438521A>G	ENSP00000350854:p.Thr3653Ala					VPS13D_ENST00000356315.4_Missense_Mutation_p.T3628A|VPS13D_ENST00000496628.1_3'UTR	p.T3653A	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	56	11087	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3652						Missense_Mutation	SNP	ENST00000358136.3	37	c.10957A>G	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	A	10.53	1.375944	0.24857	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.50813	0.73;0.73	5.64	3.3	0.37823	.	0.267126	0.40640	N	0.001053	T	0.24470	0.0593	N	0.17474	0.49	0.53688	D	0.999979	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.05666	-1.0871	10	0.11794	T	0.64	.	4.9949	0.14233	0.6605:0.0:0.2139:0.1256	.	3628;3652	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	A	3628;3653	ENSP00000348666:T3628A;ENSP00000350854:T3653A	ENSP00000348666:T3628A	T	+	1	0	VPS13D	12361108	0.022000	0.18835	0.562000	0.28370	0.952000	0.60782	1.434000	0.34958	0.409000	0.25649	0.528000	0.53228	ACA		0.537	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		5	46	0	0	0	1	0	5	46				
MKRN1	23608	broad.mit.edu	37	7	140159705	140159705	+	Missense_Mutation	SNP	C	C	G			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr7:140159705C>G	ENST00000255977.2	-	3	570	c.346G>C	c.(346-348)Gaa>Caa	p.E116Q	MKRN1_ENST00000481705.1_5'Flank|MKRN1_ENST00000480552.1_Intron|MKRN1_ENST00000443720.2_Missense_Mutation_p.E116Q|MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000474576.1_Missense_Mutation_p.E52Q	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	116					protein polyubiquitination (GO:0000209)		chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					GCAGTTGCTTCTTCCTGTTTC	0.433																																						ENST00000255977.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16						c.(346-348)Gaa>Caa		makorin ring finger protein 1							126.0	130.0	129.0					7																	140159705		2203	4300	6503	SO:0001583	missense	23608						ligase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:140159705C>G	AF192784	CCDS5860.1, CCDS47725.1	7q34	2013-01-09	2008-08-13		ENSG00000133606	ENSG00000133606		"""RING-type (C3HC4) zinc fingers"""	7112	protein-coding gene	gene with protein product		607754				10843807	Standard	NM_013446		Approved	RNF61	uc003vvt.2	Q9UHC7	OTTHUMG00000157412	ENST00000255977.2:c.346G>C	7.37:g.140159705C>G	ENSP00000255977:p.Glu116Gln					MKRN1_ENST00000474576.1_Missense_Mutation_p.E52Q|MKRN1_ENST00000480552.1_Intron|MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000443720.2_Missense_Mutation_p.E116Q	p.E116Q	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN			3	570	-	Melanoma(164;0.00956)		116					A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2	Missense_Mutation	SNP	ENST00000255977.2	37	c.346G>C	CCDS5860.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.264894	0.80358	.	.	ENSG00000133606	ENST00000255977;ENST00000539898;ENST00000474576;ENST00000443720;ENST00000471104;ENST00000467513;ENST00000494939;ENST00000473444	T;T;T;T;T;T;T	0.33438	2.89;2.2;2.47;1.85;1.82;1.84;1.41	5.45	5.45	0.79879	.	0.170068	0.49916	D	0.000125	T	0.41789	0.1174	M	0.66939	2.045	0.80722	D	1	D	0.64830	0.994	P	0.49226	0.603	T	0.20706	-1.0267	10	0.15499	T	0.54	.	19.2921	0.94103	0.0:1.0:0.0:0.0	.	116	Q9UHC7	MKRN1_HUMAN	Q	116;52;52;116;52;52;52;67	ENSP00000255977:E116Q;ENSP00000417863:E52Q;ENSP00000416369:E116Q;ENSP00000418864:E52Q;ENSP00000418588:E52Q;ENSP00000419843:E52Q;ENSP00000418620:E67Q	ENSP00000255977:E116Q	E	-	1	0	MKRN1	139806174	1.000000	0.71417	0.996000	0.52242	0.849000	0.48306	5.044000	0.64214	2.575000	0.86900	0.455000	0.32223	GAA		0.433	MKRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348752.1	NM_013446		20	37	0	0	0	1	0	20	37				
SLITRK2	84631	broad.mit.edu	37	X	144904390	144904390	+	Silent	SNP	C	C	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chrX:144904390C>T	ENST00000370490.1	+	1	4702	c.447C>T	c.(445-447)atC>atT	p.I149I	SLITRK2_ENST00000434188.2_Silent_p.I149I|SLITRK2_ENST00000447897.2_Silent_p.I149I|SLITRK2_ENST00000428560.2_Silent_p.I149I|SLITRK2_ENST00000413937.2_Silent_p.I149I			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	149					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGTGCCATCGAGGCTGGGG	0.498																																						ENST00000370490.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86						c.(445-447)atC>atT		SLIT and NTRK-like family, member 2							122.0	87.0	99.0					X																	144904390		2203	4300	6503	SO:0001819	synonymous_variant	84631					integral to membrane		g.chrX:144904390C>T	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.447C>T	X.37:g.144904390C>T						SLITRK2_ENST00000413937.2_Silent_p.I149I|SLITRK2_ENST00000447897.2_Silent_p.I149I|SLITRK2_ENST00000434188.2_Silent_p.I149I|SLITRK2_ENST00000428560.2_Silent_p.I149I	p.I149I			Q9H156	SLIK2_HUMAN			1	4702	+	Acute lymphoblastic leukemia(192;6.56e-05)		149					A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Silent	SNP	ENST00000370490.1	37	c.447C>T	CCDS14680.1																																																																																				0.498	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		17	11	0	0	0	1	0	17	11				
POLR2J4	84820	broad.mit.edu	37	7	44012856	44012856	+	RNA	SNP	G	G	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr7:44012856G>T	ENST00000427076.1	-	0	960				RP5-1165K10.2_ENST00000454572.1_RNA	NR_003655.2				polymerase (RNA) II (DNA directed) polypeptide J4, pseudogene																		CGTGGAAGGTGGGCGGCAGGT	0.627																																						ENST00000427076.1																			0																																																			0							g.chr7:44012856G>T			7p13	2008-08-21			ENSG00000214783	ENSG00000214783			28195	pseudogene	pseudogene						15586814	Standard	NR_003655		Approved	MGC13098	uc010kxw.2		OTTHUMG00000155253		7.37:g.44012856G>T								NR_003655.2						0	960	-									RNA	SNP	ENST00000427076.1	37																																																																																						0.627	POLR2J4-002	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473169.1	NR_003655		23	12	1	0	3.1745e-13	1	3.83585e-13	23	12				
CRB2	286204	broad.mit.edu	37	9	126134526	126134526	+	Missense_Mutation	SNP	A	A	C			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr9:126134526A>C	ENST00000373631.3	+	9	2508	c.2507A>C	c.(2506-2508)aAt>aCt	p.N836T	CRB2_ENST00000373629.2_Missense_Mutation_p.N504T|CRB2_ENST00000359999.3_Missense_Mutation_p.N836T	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	836	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TGCCCTGCCAATTTCACGGGG	0.622																																						ENST00000373631.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						c.(2506-2508)aAt>aCt		crumbs homolog 2 (Drosophila)							138.0	103.0	115.0					9																	126134526		2203	4300	6503	SO:0001583	missense	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126134526A>C	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.2507A>C	9.37:g.126134526A>C	ENSP00000362734:p.Asn836Thr					CRB2_ENST00000373629.2_Missense_Mutation_p.N504T|CRB2_ENST00000359999.3_Missense_Mutation_p.N836T	p.N836T	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN			9	2508	+			836			EGF-like 11.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	c.2507A>C	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	.	21.9	4.221218	0.79464	.	.	ENSG00000148204	ENST00000359999;ENST00000373631;ENST00000373629	D;D;D	0.92249	-3.0;-3.0;-3.0	5.41	4.28	0.50868	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.49305	D	0.000142	D	0.92737	0.7691	L	0.42744	1.35	0.42411	D	0.992606	D;D	0.76494	0.993;0.999	D;D	0.64776	0.909;0.929	D	0.92796	0.6252	10	0.66056	D	0.02	.	9.9635	0.41710	0.9208:0.0:0.0792:0.0	.	836;836	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	T	836;836;504	ENSP00000353092:N836T;ENSP00000362734:N836T;ENSP00000362732:N504T	ENSP00000353092:N836T	N	+	2	0	CRB2	125174347	0.996000	0.38824	1.000000	0.80357	0.989000	0.77384	5.928000	0.70088	2.047000	0.60756	0.459000	0.35465	AAT		0.622	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		8	46	0	0	0	1	0	8	46				
POC1B	282809	broad.mit.edu	37	12	89918908	89918908	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr12:89918908C>T	ENST00000313546.3	-	2	217	c.89G>A	c.(88-90)gGc>gAc	p.G30D	GALNT4_ENST00000413530.1_Missense_Mutation_p.A117T|POC1B_ENST00000393179.4_5'UTR|GALNT4_ENST00000529983.2_5'Flank|POC1B_ENST00000549035.1_5'UTR|POC1B-GALNT4_ENST00000547474.1_Missense_Mutation_p.G30D|POC1B_ENST00000541909.1_5'UTR|POC1B-GALNT4_ENST00000548729.1_Missense_Mutation_p.G30D|POC1B_ENST00000549504.1_5'UTR|RP11-734K2.4_ENST00000605233.1_RNA	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	30					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						AAGTTGCTTGCCGTTGGGGCT	0.502											OREG0022018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000548729.1																			0											c.(88-90)gGc>gAc									102.0	89.0	93.0					12																	89918908		2203	4300	6503	SO:0001583	missense	0							g.chr12:89918908C>T	AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"""WD repeat domain containing"""	30836	protein-coding gene	gene with protein product		614784	"""WD repeat domain 51B"", ""POC1 centriolar protein homolog B (Chlamydomonas)"""	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.89G>A	12.37:g.89918908C>T	ENSP00000323302:p.Gly30Asp		OREG0022018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1271	POC1B-GALNT4_ENST00000413530.1_Missense_Mutation_p.A117T|POC1B_ENST00000541909.1_5'UTR|POC1B_ENST00000393179.4_5'UTR|POC1B_ENST00000313546.3_Missense_Mutation_p.G30D|POC1B_ENST00000549504.1_5'UTR|POC1B-GALNT4_ENST00000547474.1_Missense_Mutation_p.G30D|POC1B_ENST00000549035.1_5'UTR	p.G30D	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1					2	391	-								G3V1X0	Missense_Mutation	SNP	ENST00000313546.3	37	c.89G>A	CCDS31869.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.32|16.32	3.090291|3.090291	0.55968|0.55968	.|.	.|.	ENSG00000259075|ENSG00000139323;ENSG00000259075;ENSG00000259075	ENST00000413530|ENST00000313546;ENST00000548729;ENST00000547474	T|T;T;D	0.71461|0.84800	-0.57|-0.17;0.67;-1.9	4.61|4.61	2.65|2.65	0.31530|0.31530	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.638100	.|0.16627	.|N	.|0.206202	D|D	0.84629|0.84629	0.5514|0.5514	M|M	0.64567|0.64567	1.98|1.98	0.09310|0.09310	N|N	1|1	.|B;B	.|0.26708	.|0.13;0.157	.|B;B	.|0.35931	.|0.023;0.214	T|T	0.78904|0.78904	-0.2020|-0.2020	7|10	0.31617|0.62326	T|D	0.26|0.03	.|.	12.5886|12.5886	0.56430|0.56430	0.0:0.5512:0.4488:0.0|0.0:0.5512:0.4488:0.0	.|.	.|30;30	.|F8VUJ3;Q8TC44	.|.;POC1B_HUMAN	T|D	117|30	ENSP00000389686:A117T|ENSP00000323302:G30D;ENSP00000447852:G30D;ENSP00000447754:G30D	ENSP00000389686:A117T|ENSP00000323302:G30D	A|G	-|-	1|2	0|0	RP11-1109F11.4|POC1B;RP11-1109F11.4	88443039|88443039	0.099000|0.099000	0.21834|0.21834	0.089000|0.089000	0.20774|0.20774	0.922000|0.922000	0.55478|0.55478	0.936000|0.936000	0.28938|0.28938	1.132000|1.132000	0.42129|0.42129	0.555000|0.555000	0.69702|0.69702	GCA|GGC		0.502	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406637.1	NM_172240		3	52	0	0	0	1	0	3	52				
SLIT3	6586	broad.mit.edu	37	5	168112857	168112857	+	Silent	SNP	G	G	A			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr5:168112857G>A	ENST00000519560.1	-	31	3809	c.3390C>T	c.(3388-3390)aaC>aaT	p.N1130N	SLIT3_ENST00000332966.8_Silent_p.N1137N|SLIT3_ENST00000404867.3_Silent_p.N1130N	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1130	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTGGGCCCCGTTCTGGCACT	0.637																																					Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(3388-3390)aaC>aaT		slit homolog 3 (Drosophila)							39.0	36.0	37.0					5																	168112857		2203	4300	6503	SO:0001819	synonymous_variant	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168112857G>A	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3390C>T	5.37:g.168112857G>A						SLIT3_ENST00000404867.3_Silent_p.N1130N|SLIT3_ENST00000332966.8_Silent_p.N1137N	p.N1130N	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		31	3809	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1130			EGF-like 6.		A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	c.3390C>T	CCDS4369.1																																																																																				0.637	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		10	21	0	0	0	1	0	10	21				
TOP3A	7156	broad.mit.edu	37	17	18181585	18181585	+	Missense_Mutation	SNP	A	A	G	rs564388683		TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr17:18181585A>G	ENST00000321105.5	-	18	2445	c.2231T>C	c.(2230-2232)cTg>cCg	p.L744P	TOP3A_ENST00000542570.1_Missense_Mutation_p.L649P|TOP3A_ENST00000540524.1_Missense_Mutation_p.L274P	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	744					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GATCTCCCTCAGGGTGTCGTC	0.592													A|||	1	0.000199681	0.0008	0.0	5008	,	,		15021	0.0		0.0	False		,,,				2504	0.0					ENST00000321105.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						c.(2230-2232)cTg>cCg		topoisomerase (DNA) III alpha							35.0	41.0	39.0					17																	18181585		2202	4300	6502	SO:0001583	missense	7156				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	g.chr17:18181585A>G	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.2231T>C	17.37:g.18181585A>G	ENSP00000321636:p.Leu744Pro					TOP3A_ENST00000542570.1_Missense_Mutation_p.L649P|TOP3A_ENST00000540524.1_Missense_Mutation_p.L274P	p.L744P	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN			18	2445	-			744					A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	ENST00000321105.5	37	c.2231T>C	CCDS11194.1	.	.	.	.	.	.	.	.	.	.	A	12.06	1.823974	0.32237	.	.	ENSG00000177302	ENST00000321105;ENST00000540524;ENST00000542570	T;T;T	0.14766	2.86;2.48;2.86	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.39279	0.1072	M	0.78049	2.395	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.72075	0.961;0.976	T	0.17440	-1.0369	10	0.49607	T	0.09	-18.7973	15.9892	0.80188	1.0:0.0:0.0:0.0	.	649;744	B4DK80;Q13472	.;TOP3A_HUMAN	P	744;274;649	ENSP00000321636:L744P;ENSP00000446425:L274P;ENSP00000442336:L649P	ENSP00000321636:L744P	L	-	2	0	TOP3A	18122310	1.000000	0.71417	1.000000	0.80357	0.417000	0.31264	7.435000	0.80391	2.182000	0.69389	0.448000	0.29417	CTG		0.592	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			18	22	0	0	0	1	0	18	22				
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs200214744|rs565505867	byFrequency	TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662																																						ENST00000391413.2																			4	Substitution - Missense(4)	p.M93V(4)	endometrium(3)|kidney(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(277-279)Atg>Gtg		keratin associated protein 4-11							6.0	10.0	8.0					17																	39274291		651	1556	2207	SO:0001583	missense	653240					keratin filament		g.chr17:39274291T>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.277A>G	17.37:g.39274291T>C	ENSP00000375232:p.Met93Val						p.M93V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	315	-		Breast(137;0.000496)	93			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.277A>G	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	0.073	-1.199029	0.01581	.	.	ENSG00000212721	ENST00000391413	T	0.00580	6.43	4.25	-4.9	0.03094	.	.	.	.	.	T	0.00109	0.0003	N	0.00040	-2.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43097	-0.9412	9	0.02654	T	1	.	0.4739	0.00536	0.3479:0.2455:0.1203:0.2863	.	93	Q9BYQ6	KR411_HUMAN	V	93	ENSP00000375232:M93V	ENSP00000375232:M93V	M	-	1	0	KRTAP4-11	36527817	.	.	0.012000	0.15200	0.010000	0.07245	.	.	-1.319000	0.02286	-1.132000	0.01976	ATG		0.662	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			5	36	0	0	0	1	0	5	36				
KRTAP5-10	387273	broad.mit.edu	37	11	71276861	71276861	+	Silent	SNP	T	T	C	rs12792973		TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr11:71276861T>C	ENST00000398531.1	+	1	253	c.228T>C	c.(226-228)tcT>tcC	p.S76S	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						ACTGTGGCTCTTGTGGGGGCT	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>tcC		keratin associated protein 5-10																																				SO:0001819	synonymous_variant	387273					keratin filament		g.chr11:71276861T>C	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.228T>C	11.37:g.71276861T>C						KRTAP5-10_ENST00000376536.4_Intron	p.S76S	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN			1	253	+			76			7 X 4 AA repeats of C-C-X-P.		B9EHA4	Silent	SNP	ENST00000398531.1	37	c.228T>C	CCDS41684.1																																																																																				0.677	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			4	101	0	0	0	1	0	4	101				
FZD6	8323	broad.mit.edu	37	8	104337700	104337700	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr8:104337700C>T	ENST00000358755.4	+	4	1683	c.1366C>T	c.(1366-1368)Cag>Tag	p.Q456*	FZD6_ENST00000540287.1_Nonsense_Mutation_p.Q151*|FZD6_ENST00000522566.1_Nonsense_Mutation_p.Q456*|FZD6_ENST00000523739.1_Nonsense_Mutation_p.Q424*	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	456					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			TCATTGTCGTCAGTACCATAT	0.378																																						ENST00000358755.4																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1366-1368)Cag>Tag		frizzled family receptor 6							143.0	122.0	129.0					8																	104337700		2203	4300	6503	SO:0001587	stop_gained	8323				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:104337700C>T	AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"""GPCR / Class F : Frizzled receptors"""	4044	protein-coding gene	gene with protein product		603409	"""frizzled (Drosophila) homolog 6"", ""frizzled homolog 6 (Drosophila)"", ""frizzled 6, seven transmembrane spanning receptor"", ""frizzled family receptor 6"""			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.1366C>T	8.37:g.104337700C>T	ENSP00000351605:p.Gln456*					FZD6_ENST00000540287.1_Nonsense_Mutation_p.Q151*|FZD6_ENST00000523739.1_Nonsense_Mutation_p.Q424*|FZD6_ENST00000522566.1_Nonsense_Mutation_p.Q456*	p.Q456*	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)		4	1683	+			456					B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Nonsense_Mutation	SNP	ENST00000358755.4	37	c.1366C>T	CCDS6298.1	.	.	.	.	.	.	.	.	.	.	C	39	7.607867	0.98387	.	.	ENSG00000164930	ENST00000522566;ENST00000358755;ENST00000523739;ENST00000540287;ENST00000539487	.	.	.	6.16	5.27	0.74061	.	0.303058	0.37178	N	0.002211	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	15.9594	0.79918	0.0:0.6231:0.3769:0.0	.	.	.	.	X	456;456;424;151;401	.	ENSP00000351605:Q456X	Q	+	1	0	FZD6	104406876	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.625000	0.54238	1.582000	0.49881	0.650000	0.86243	CAG		0.378	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1	NM_003506		24	88	0	0	0	1	0	24	88				
DSC1	1823	broad.mit.edu	37	18	28719853	28719853	+	Splice_Site	SNP	C	C	A			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr18:28719853C>A	ENST00000257198.5	-	11	1782	c.1521G>T	c.(1519-1521)agG>agT	p.R507S	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_Splice_Site_p.R507S	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	507	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ACTTCTGATACCTAATTTTTA	0.294																																						ENST00000257197.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.e11-1		desmocollin 1							38.0	38.0	38.0					18																	28719853		2202	4296	6498	SO:0001630	splice_region_variant	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28719853C>A	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.1521-1G>T	18.37:g.28719853C>A						DSC1_ENST00000257198.5_Splice_Site_p.R507_splice|RP11-408H20.2_ENST00000581836.1_RNA	p.R507_splice	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		11	1782	-			507			Cadherin 4.		Q9HB01	Splice_Site	SNP	ENST00000257198.5	37	c.1520_splice	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.139035	0.37728	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.51325	0.71;0.71	5.59	3.74	0.42951	Cadherin (4);Cadherin-like (1);	0.216900	0.32028	N	0.006690	T	0.44582	0.1300	M	0.63428	1.95	0.41012	D	0.98501	P;P	0.43578	0.811;0.669	B;B	0.43838	0.433;0.266	T	0.40776	-0.9545	10	0.59425	D	0.04	.	4.8564	0.13561	0.0:0.4983:0.228:0.2737	.	507;507	Q08554;Q9HB00	DSC1_HUMAN;.	S	507	ENSP00000257197:R507S;ENSP00000257198:R507S	ENSP00000257197:R507S	R	-	3	2	DSC1	26973851	0.992000	0.36948	0.998000	0.56505	0.735000	0.41995	0.152000	0.16302	0.653000	0.30826	-0.237000	0.12165	AGG		0.294	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421	Missense_Mutation	15	21	1	0	1.5739e-10	1	1.82572e-10	15	21				
CLDN23	137075	broad.mit.edu	37	8	8560290	8560290	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr8:8560290G>A	ENST00000519106.1	+	1	843	c.382G>A	c.(382-384)Ggc>Agc	p.G128S		NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN	claudin 23	128					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)	2		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		TGGCCTCCTCGGCCTCATCCC	0.697																																						ENST00000519106.1																			0				endometrium(2)	2						c.(382-384)Ggc>Agc		claudin 23							20.0	23.0	22.0					8																	8560290		2159	4233	6392	SO:0001583	missense	137075				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr8:8560290G>A	AK123547	CCDS55195.1	8p23.1	2006-04-12				ENSG00000253958		"""Claudins"""	17591	protein-coding gene	gene with protein product		609203				12736707	Standard	NM_194284		Approved	CLDNL	uc003wsi.3	Q96B33		ENST00000519106.1:c.382G>A	8.37:g.8560290G>A	ENSP00000428780:p.Gly128Ser						p.G128S	NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)	1	843	+		Hepatocellular(245;0.217)	128					Q08AJ3	Missense_Mutation	SNP	ENST00000519106.1	37	c.382G>A	CCDS55195.1	.	.	.	.	.	.	.	.	.	.	A	1.180	-0.638401	0.03557	.	.	ENSG00000253958	ENST00000519106	D	0.87650	-2.28	4.69	2.0	0.26442	.	.	.	.	.	T	0.65123	0.2661	N	0.01473	-0.845	0.09310	N	0.999991	B	0.06786	0.001	B	0.10450	0.005	T	0.52578	-0.8557	9	0.12103	T	0.63	.	8.5704	0.33565	0.6954:0.0:0.3046:0.0	.	128	Q96B33	CLD23_HUMAN	S	128	ENSP00000428780:G128S	ENSP00000428780:G128S	G	+	1	0	CLDN23	8597700	0.839000	0.29477	0.753000	0.31225	0.369000	0.29798	1.371000	0.34250	0.267000	0.21916	-0.521000	0.04368	GGC		0.697	CLDN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374721.1	NM_194284		16	26	0	0	0	1	0	16	26				
EXOC6B	23233	broad.mit.edu	37	2	72958290	72958290	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr2:72958290G>A	ENST00000272427.6	-	4	542	c.412C>T	c.(412-414)Ctt>Ttt	p.L138F	EXOC6B_ENST00000410104.1_Missense_Mutation_p.L138F	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	138					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						TCACCTGGAAGACACAGCATT	0.368																																						ENST00000272427.6																			0				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						c.(412-414)Ctt>Ttt		exocyst complex component 6B							62.0	58.0	59.0					2																	72958290		1842	4089	5931	SO:0001583	missense	23233				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr2:72958290G>A	AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"""SEC15-like 2 (S. cerevisiae)"", ""SEC15 homolog B (S. cerevisiae)"""	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.412C>T	2.37:g.72958290G>A	ENSP00000272427:p.Leu138Phe					EXOC6B_ENST00000410104.1_Missense_Mutation_p.L138F	p.L138F	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN			4	542	-			138					B8ZZY3	Missense_Mutation	SNP	ENST00000272427.6	37	c.412C>T	CCDS46333.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837220	0.71373	.	.	ENSG00000144036	ENST00000272427;ENST00000410104;ENST00000290144	D;D	0.99701	-6.45;-6.45	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.99680	0.9880	M	0.84326	2.69	0.80722	D	1	D;P	0.65815	0.995;0.686	D;P	0.72982	0.979;0.49	D	0.97882	1.0292	10	0.66056	D	0.02	.	17.0174	0.86423	0.0:0.0:1.0:0.0	.	138;138	Q9Y2D4;Q9Y2D4-2	EXC6B_HUMAN;.	F	138	ENSP00000272427:L138F;ENSP00000386698:L138F	ENSP00000272427:L138F	L	-	1	0	EXOC6B	72811798	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.365000	0.66116	2.803000	0.96430	0.655000	0.94253	CTT		0.368	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327558.1	XM_039570		5	13	0	0	0	1	0	5	13				
ESYT1	23344	broad.mit.edu	37	12	56532056	56532056	+	Splice_Site	SNP	G	G	A			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr12:56532056G>A	ENST00000394048.5	+	21	2601	c.2337G>A	c.(2335-2337)gaG>gaA	p.E779E	ESYT1_ENST00000550878.1_3'UTR|ESYT1_ENST00000541590.1_Splice_Site_p.E789E|ESYT1_ENST00000267113.4_Splice_Site_p.E789E	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	779					lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						AGTTAGAGGAGGTAGGGCAGG	0.592																																						ENST00000394048.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						c.e21+1		extended synaptotagmin-like protein 1							81.0	82.0	81.0					12																	56532056		2203	4300	6503	SO:0001630	splice_region_variant	23344					integral to membrane		g.chr12:56532056G>A	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.2337+1G>A	12.37:g.56532056G>A						ESYT1_ENST00000267113.4_Splice_Site_p.E789_splice|ESYT1_ENST00000541590.1_Splice_Site_p.E789_splice|ESYT1_ENST00000550878.1_3'UTR	p.E779_splice	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN			21	2601	+			779					A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Splice_Site	SNP	ENST00000394048.5	37	c.2337_splice	CCDS8904.1																																																																																				0.592	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292	Silent	18	41	0	0	0	1	0	18	41				
PACSIN1	29993	broad.mit.edu	37	6	34499497	34499497	+	Missense_Mutation	SNP	G	G	C	rs201372577		TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr6:34499497G>C	ENST00000538621.1	+	9	1403	c.1158G>C	c.(1156-1158)aaG>aaC	p.K386N	PACSIN1_ENST00000374043.2_Missense_Mutation_p.K344N|PACSIN1_ENST00000244458.2_Missense_Mutation_p.K386N	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	386	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|establishment of protein localization to plasma membrane (GO:0090002)|membrane tubulation (GO:0097320)|neuron projection morphogenesis (GO:0048812)|positive regulation of dendrite development (GO:1900006)|protein localization to membrane (GO:0072657)|synaptic vesicle endocytosis (GO:0048488)	axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						ACGACTCCAAGGGAGTGCGCG	0.657																																						ENST00000538621.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						c.(1156-1158)aaG>aaC		protein kinase C and casein kinase substrate in neurons 1							93.0	100.0	98.0					6																	34499497		2203	4300	6503	SO:0001583	missense	0				endocytosis		protein kinase activity	g.chr6:34499497G>C	AB037800	CCDS4793.1	6p21.3	2008-02-05			ENSG00000124507	ENSG00000124507			8570	protein-coding gene	gene with protein product	"""syndapin I"""	606512				11179684	Standard	NM_020804		Approved	SDPI	uc003ojp.4	Q9BY11	OTTHUMG00000014547	ENST00000538621.1:c.1158G>C	6.37:g.34499497G>C	ENSP00000439639:p.Lys386Asn					PACSIN1_ENST00000244458.2_Missense_Mutation_p.K386N|PACSIN1_ENST00000374043.2_Missense_Mutation_p.K344N	p.K386N	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN			9	1403	+			386			SH3.		Q9P2G8	Missense_Mutation	SNP	ENST00000538621.1	37	c.1158G>C	CCDS4793.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.594454	0.46214	.	.	ENSG00000124507	ENST00000244458;ENST00000374043;ENST00000436831;ENST00000538621	T;T;T	0.22336	1.96;1.96;1.96	4.94	1.03	0.20045	Src homology-3 domain (2);	0.159651	0.41001	U	0.000976	T	0.02688	0.0081	N	0.08118	0	0.51482	D	0.999921	P	0.38922	0.651	B	0.30401	0.115	T	0.48151	-0.9060	10	0.27082	T	0.32	-33.0239	8.9974	0.36061	0.4735:0.0:0.5265:0.0	.	386	Q9BY11	PACN1_HUMAN	N	386;344;386;386	ENSP00000244458:K386N;ENSP00000363155:K344N;ENSP00000439639:K386N	ENSP00000244458:K386N	K	+	3	2	PACSIN1	34607475	1.000000	0.71417	0.980000	0.43619	0.961000	0.63080	1.613000	0.36900	0.003000	0.14656	-0.367000	0.07326	AAG		0.657	PACSIN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040236.1			31	69	0	0	0	1	0	31	69				
AHRR	57491	broad.mit.edu	37	5	432967	432967	+	Silent	SNP	T	T	C			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr5:432967T>C	ENST00000505113.1	+	10	1073	c.1029T>C	c.(1027-1029)acT>acC	p.T343T	AHRR_ENST00000512529.1_Silent_p.T189T|AHRR_ENST00000506456.1_Silent_p.T199T|AHRR_ENST00000316418.5_Silent_p.T361T	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	343					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GGGAACAGACTGACGCTGGCC	0.657																																						ENST00000316418.5																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(1081-1083)acT>acC		aryl-hydrocarbon receptor repressor							37.0	43.0	41.0					5																	432967		2009	4165	6174	SO:0001819	synonymous_variant	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:432967T>C	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.1029T>C	5.37:g.432967T>C						AHRR_ENST00000506456.1_Silent_p.T199T|AHRR_ENST00000512529.1_Silent_p.T189T|AHRR_ENST00000505113.1_Silent_p.T343T	p.T361T	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		11	1127	+			343					A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Silent	SNP	ENST00000505113.1	37	c.1083T>C	CCDS56355.1																																																																																				0.657	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		27	29	0	0	0	1	0	27	29				
ZAN	7455	broad.mit.edu	37	7	100350582	100350582	+	RNA	SNP	C	C	A	rs199651674	byFrequency	TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr7:100350582C>A	ENST00000348028.3	+	0	3019				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CACCATCTCCCCAGAAAAACT	0.507													a|||	7	0.00139776	0.003	0.0	5008	,	,		19118	0.002		0.001	False		,,,				2504	0.0					ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)		A	THR/PRO,THR/PRO	3,3703		0,3,1850	215.0	258.0	245.0		2854,2854	-1.5	0.0	7		245	0,8182		0,0,4091	yes	missense,missense	ZAN	NM_003386.1,NM_173059.1	38,38	0,3,5941	AA,AC,CC		0.0,0.0809,0.0252	benign,benign	952/2813,952/2722	100350582	3,11885	1853	4091	5944			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350582C>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350582C>A						ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	3002	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	A	3.333	-0.136296	0.06711	8.09E-4	0.0	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.55052	0.54;0.54;0.54	2.8	-1.52	0.08637	.	0.870109	0.09349	N	0.814435	T	0.20007	0.0481	N	0.01048	-1.04	0.31076	N	0.712413	B;B	0.11235	0.004;0.002	B;B	0.12156	0.007;0.002	T	0.16928	-1.0386	10	0.35671	T	0.21	.	5.9752	0.19375	0.308:0.522:0.0:0.17	.	952;952	F5H0T8;Q9Y493	.;ZAN_HUMAN	T	952	ENSP00000445943:P952T;ENSP00000445091:P952T;ENSP00000444427:P952T	ENSP00000423579:P952T	P	+	1	0	ZAN	100188518	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.423000	0.00476	-0.720000	0.04935	-1.819000	0.00600	CCA		0.507	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		5	218	1	0	8.12818e-05	1	8.62381e-05	5	218				
IL6ST	3572	broad.mit.edu	37	5	55251876	55251876	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr5:55251876G>A	ENST00000381298.2	-	10	1556	c.1244C>T	c.(1243-1245)aCt>aTt	p.T415I	IL6ST_ENST00000336909.5_Missense_Mutation_p.T415I|IL6ST_ENST00000381294.3_Missense_Mutation_p.T415I|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000502326.3_Missense_Mutation_p.T415I|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000522633.2_3'UTR	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	415	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.		T -> I (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)	p.T415I(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				GGCAGGGATAGTTAAAACAGC	0.418			O		hepatocellular ca																																	ENST00000381298.2				Dom	yes		5	5q11	3572	O	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			E			hepatocellular ca		1	Substitution - Missense(1)	p.T415I(1)	large_intestine(1)	breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(1243-1245)aCt>aTt		interleukin 6 signal transducer (gp130, oncostatin M receptor)							122.0	114.0	117.0					5																	55251876		2203	4300	6503	SO:0001583	missense	3572				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	g.chr5:55251876G>A	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.1244C>T	5.37:g.55251876G>A	ENSP00000370698:p.Thr415Ile					IL6ST_ENST00000336909.5_Missense_Mutation_p.T415I|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000502326.3_Missense_Mutation_p.T415I|IL6ST_ENST00000381294.3_Missense_Mutation_p.T415I|IL6ST_ENST00000522633.2_3'UTR|IL6ST_ENST00000536319.1_3'UTR	p.T415I	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN			10	1556	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)	415		T -> I (in a colorectal cancer sample; somatic mutation).	Fibronectin type-III 3.		A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	37	c.1244C>T	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	G	9.399	1.077626	0.20227	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294	T;T;T	0.39229	1.28;1.28;1.09	5.86	4.04	0.47022	Long hematopoietin receptor, Gp130 family 2, conserved site (1);Fibronectin, type III (2);	0.768317	0.13249	N	0.402270	T	0.27278	0.0669	L	0.39898	1.24	0.80722	D	1	B;B;B	0.31290	0.318;0.047;0.215	B;B;B	0.18263	0.018;0.021;0.018	T	0.05022	-1.0911	10	0.22109	T	0.4	.	5.3476	0.16018	0.2037:0.165:0.6313:0.0	.	415;415;415	Q17RA0;Q5FC04;P40189	.;.;IL6RB_HUMAN	I	415	ENSP00000370698:T415I;ENSP00000338799:T415I;ENSP00000370694:T415I	ENSP00000338799:T415I	T	-	2	0	IL6ST	55287633	1.000000	0.71417	0.987000	0.45799	0.235000	0.25334	1.984000	0.40658	0.884000	0.36064	0.650000	0.86243	ACT		0.418	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		22	95	0	0	0	1	0	22	95				
PIK3CD	5293	broad.mit.edu	37	1	9782083	9782084	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr1:9782083_9782084delCT	ENST00000377346.4	+	17	2301_2302	c.2106_2107delCT	c.(2104-2109)agctctfs	p.SS702fs	PIK3CD_ENST00000536656.1_Frame_Shift_Del_p.SS726fs|PIK3CD_ENST00000361110.2_Frame_Shift_Del_p.SS726fs|PIK3CD_ENST00000543390.1_3'UTR	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	702					adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	TCAAGCTGAGCTCTCAGAAGAC	0.634											OREG0013082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000536656.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(2176-2181)agctfs		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta																																				SO:0001589	frameshift_variant	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9782083_9782084delCT		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.2106_2107delCT	1.37:g.9782085_9782086delCT	ENSP00000366563:p.Ser702fs		OREG0013082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	659	PIK3CD_ENST00000543390.1_3'UTR|PIK3CD_ENST00000377346.4_Frame_Shift_Del_p.SS702fs|PIK3CD_ENST00000361110.2_Frame_Shift_Del_p.SS726fs	p.SS726fs			O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	17	2386_2387	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	702					A6NCG0|G1FFP1|O15445|Q5SR49	Frame_Shift_Del	DEL	ENST00000377346.4	37	c.2178_2179delCT	CCDS104.1																																																																																				0.634	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		19	37						19	37	---	---	---	---
HORMAD1	84072	broad.mit.edu	37	1	150679186	150679187	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr1:150679186_150679187delGA	ENST00000361824.2	-	10	751_752	c.646_647delTC	c.(646-648)tcafs	p.S216fs	HORMAD1_ENST00000322343.7_Frame_Shift_Del_p.S209fs|HORMAD1_ENST00000368993.2_Frame_Shift_Del_p.S216fs|HORMAD1_ENST00000368995.4_Frame_Shift_Del_p.S136fs	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	216	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			AAAAGGTGTTGAGACTTCTCCC	0.381																																						ENST00000368993.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16						c.(646-648)afs		HORMA domain containing 1																																				SO:0001589	frameshift_variant	84072				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus		g.chr1:150679186_150679187delGA	AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"""cancer/testis antigen 46"""	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.646_647delTC	1.37:g.150679188_150679189delGA	ENSP00000355167:p.Ser216fs					HORMAD1_ENST00000368995.4_Frame_Shift_Del_p.S136fs|HORMAD1_ENST00000361824.2_Frame_Shift_Del_p.S216fs|HORMAD1_ENST00000322343.7_Frame_Shift_Del_p.S209fs	p.S216fs			Q86X24	HORM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)		10	751_752	-	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		216			HORMA.		A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Frame_Shift_Del	DEL	ENST00000361824.2	37	c.646_647delTC	CCDS967.1																																																																																				0.381	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084722.1	NM_032132		81	55						81	55	---	---	---	---
ANKRD36	375248	broad.mit.edu	37	2	97808574	97808575	+	Splice_Site	INS	-	-	A	rs376259802		TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr2:97808574_97808575insA	ENST00000461153.2	+	8	1145		c.e8+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36									p.?(1)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CTGGGACAGGTATTTTGGAATA	0.366																																						ENST00000420699.2																			1	Unknown(1)	p.?(1)	upper_aerodigestive_tract(1)	endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.e8+2		ankyrin repeat domain 36																																				SO:0001630	splice_region_variant	375248							g.chr2:97808574_97808575insA	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.901+2->A	2.37:g.97808575_97808575dupA						ANKRD36_ENST00000461153.2_Splice_Site		NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			8	1145	+								B4E3I8|Q6UX02|Q86X62|Q9HCD1	Splice_Site	INS	ENST00000461153.2	37		CCDS54379.1																																																																																				0.366	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5		Intron	4	2						4	2	---	---	---	---
RASA4CP	401331	broad.mit.edu	37	7	44070514	44070514	+	RNA	DEL	G	G	-			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr7:44070514delG	ENST00000446874.1	-	0	502									RAS p21 protein activator 4C, pseudogene																		GGGGcacagagagggcaaagt	0.572																																						ENST00000446874.1																			0																																																			0							g.chr7:44070514delG			7p13	2012-07-04			ENSG00000228903	ENSG00000228903			44185	pseudogene	pseudogene							Standard	NR_024116		Approved		uc011kbk.1		OTTHUMG00000155354		7.37:g.44070514delG														0	502	-									RNA	DEL	ENST00000446874.1	37																																																																																						0.572	RASA4CP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000339613.1	NR_024116		2	4						2	4	---	---	---	---
SPATA31D5P	347127	broad.mit.edu	37	9	84528612	84528614	+	RNA	DEL	TTG	TTG	-	rs374073531|rs140971347	byFrequency	TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr9:84528612_84528614delTTG	ENST00000527857.1	+	0	221					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		AGATTCCCTCTTGTTGTTTCCCA	0.389														269	0.0537141	0.0998	0.0461	5008	,	,		19697	0.0099		0.0795	False		,,,				2504	0.0153					ENST00000527857.1																			0																																																			0							g.chr9:84528612_84528614delTTG			9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84528615_84528617delTTG								NR_026851.1						0	221	+									RNA	DEL	ENST00000527857.1	37																																																																																						0.389	SPATA31D5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052810.2	NR_026851		5	2						5	2	---	---	---	---
RABGAP1	23637	broad.mit.edu	37	9	125865401	125865402	+	Frame_Shift_Ins	INS	-	-	T	rs371711354		TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr9:125865401_125865402insT	ENST00000373647.4	+	26	3253_3254	c.3119_3120insT	c.(3118-3123)aatgagfs	p.E1041fs	RABGAP1_ENST00000373643.5_Frame_Shift_Ins_p.E380fs	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	1041					cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						CTTGCCCTCAATGAGGTGCAGG	0.535											OREG0019466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373647.4																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(3118-3120)agafs		RAB GTPase activating protein 1																																				SO:0001589	frameshift_variant	23637				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	g.chr9:125865401_125865402insT	AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.3120dupT	9.37:g.125865402_125865402dupT	ENSP00000362751:p.Glu1041fs		OREG0019466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1545	RABGAP1_ENST00000373643.5_Frame_Shift_Ins_p.R379fs	p.R1040fs	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN			26	3253_3254	+			1040					B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Frame_Shift_Ins	INS	ENST00000373647.4	37	c.3119_3120insT	CCDS6848.2																																																																																				0.535	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197		24	22						24	22	---	---	---	---
ANO2	57101	broad.mit.edu	37	12	5687128	5687129	+	Frame_Shift_Ins	INS	-	-	T			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr12:5687128_5687129insT	ENST00000356134.5	-	24	2505_2506	c.2434_2435insA	c.(2434-2436)atcfs	p.I812fs	ANO2_ENST00000546188.1_Frame_Shift_Ins_p.I812fs|ANO2_ENST00000327087.8_Frame_Shift_Ins_p.I811fs	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	816					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TACGTTGCTGATAACAGAGAAC	0.52																																						ENST00000546188.1																			0				central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.(2434-2436)cagfs		anoctamin 2																																				SO:0001589	frameshift_variant	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5687128_5687129insT	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.2435dupA	12.37:g.5687129_5687129dupT	ENSP00000348453:p.Ile812fs					ANO2_ENST00000327087.8_Frame_Shift_Ins_p.Q811fs|ANO2_ENST00000356134.5_Frame_Shift_Ins_p.Q812fs	p.Q812fs			Q9NQ90	ANO2_HUMAN			23	2505_2506	-			816					C4N787|Q9H847	Frame_Shift_Ins	INS	ENST00000356134.5	37	c.2434_2435insA																																																																																					0.520	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		32	53						32	53	---	---	---	---
OR10G3	26533	broad.mit.edu	37	14	22038145	22038146	+	Frame_Shift_Ins	INS	-	-	CTCC			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr14:22038145_22038146insCTCC	ENST00000303532.1	-	1	729_730	c.730_731insGGAG	c.(730-732)gccfs	p.A244fs		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		GGTTACATGGGCTCCACAAGTT	0.569																																						ENST00000303532.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15						c.(730-732)ccafs		olfactory receptor, family 10, subfamily G, member 3																																				SO:0001589	frameshift_variant	26533				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22038145_22038146insCTCC		CCDS32046.1	14q11.2	2013-09-24			ENSG00000169208	ENSG00000169208		"""GPCR / Class A : Olfactory receptors"""	8171	protein-coding gene	gene with protein product						8188290	Standard	NM_001005465		Approved		uc010tmb.2	Q8NGC4	OTTHUMG00000168886	ENST00000303532.1:c.727_730dupGGAG	14.37:g.22038146_22038149dupCTCC	ENSP00000302437:p.Ala244fs						p.P244fs	NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN		GBM - Glioblastoma multiforme(265;0.0139)	1	729_730	-	all_cancers(95;0.000987)		244					Q6IET7|Q96R77	Frame_Shift_Ins	INS	ENST00000303532.1	37	c.730_731insGGAG	CCDS32046.1																																																																																				0.569	OR10G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401521.1			18	53						18	53	---	---	---	---
ZNF324	25799	broad.mit.edu	37	19	58983378	58983378	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr19:58983378delA	ENST00000536459.2	+	4	2228	c.1519delA	c.(1519-1521)aagfs	p.K507fs	ZNF446_ENST00000596341.1_5'Flank|ZNF324_ENST00000535298.1_Frame_Shift_Del_p.K284fs|ZNF324_ENST00000196482.3_Frame_Shift_Del_p.K507fs			O75467	Z324A_HUMAN	zinc finger protein 324	507					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TACCGGCGAGAAGACCGTCCG	0.667																																						ENST00000536459.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16						c.(1519-1521)agfs		zinc finger protein 324							33.0	36.0	35.0					19																	58983378		2203	4298	6501	SO:0001589	frameshift_variant	25799				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58983378delA	AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"""Zinc fingers, C2H2-type"", ""-"""	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.1519delA	19.37:g.58983378delA	ENSP00000444812:p.Lys507fs					ZNF324_ENST00000196482.3_Frame_Shift_Del_p.K507fs|ZNF324_ENST00000535298.1_Frame_Shift_Del_p.K284fs	p.K507fs			O75467	Z324A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	2228	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	507					B3KRX1	Frame_Shift_Del	DEL	ENST00000536459.2	37	c.1519delA	CCDS12981.1																																																																																				0.667	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1	NM_014347		9	26						9	26	---	---	---	---
MICAL3	57553	broad.mit.edu	37	22	18300931	18300932	+	Frame_Shift_Ins	INS	-	-	G	rs574673863|rs373213687		TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr22:18300931_18300932insG	ENST00000441493.2	-	26	4847_4848	c.4495_4496insC	c.(4495-4497)cggfs	p.R1499fs	MICAL3_ENST00000580469.1_5'Flank	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1499	Pro-rich.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AGCAGGCTCCCGGGGGGGCCGC	0.678																																						ENST00000441493.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(4495-4497)ggafs		microtubule associated monooxygenase, calponin and LIM domain containing 3																																				SO:0001589	frameshift_variant	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18300931_18300932insG	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.4496dupC	22.37:g.18300938_18300938dupG	ENSP00000416015:p.Arg1499fs						p.G1499fs	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	26	4847_4848	-		all_epithelial(15;0.198)	1499			Pro-rich.		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Frame_Shift_Ins	INS	ENST00000441493.2	37	c.4495_4496insC	CCDS46659.1																																																																																				0.678	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			2	4						2	4	---	---	---	---
COL4A6	1288	broad.mit.edu	37	X	107413200	107413201	+	Frame_Shift_Ins	INS	-	-	C			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chrX:107413200_107413201insC	ENST00000372216.4	-	36	3642_3643	c.3542_3543insG	c.(3541-3543)ggcfs	p.G1181fs	COL4A6_ENST00000545689.1_Intron|COL4A6_ENST00000394872.2_Frame_Shift_Ins_p.G1181fs|COL4A6_ENST00000538570.1_Intron|COL4A6_ENST00000334504.7_Frame_Shift_Ins_p.G1180fs	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1181	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TACCCTTGGTGCCCGGAAGCCC	0.535									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000334504.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(3538-3540)gacfs		collagen, type IV, alpha 6																																				SO:0001589	frameshift_variant	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107413200_107413201insC	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.3543dupG	X.37:g.107413203_107413203dupC	ENSP00000361290:p.Gly1181fs					COL4A6_ENST00000372216.4_Frame_Shift_Ins_p.D1181fs|COL4A6_ENST00000545689.1_Intron|COL4A6_ENST00000394872.2_Frame_Shift_Ins_p.D1181fs|COL4A6_ENST00000538570.1_Intron	p.D1180fs	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN			36	3772_3773	-			1181			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Frame_Shift_Ins	INS	ENST00000372216.4	37	c.3539_3540insG	CCDS14541.1																																																																																				0.535	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			2	4						2	4	---	---	---	---
