#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
S1PR5	53637	broad.mit.edu	37	19	10625610	10625610	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:10625610G>A	ENST00000439028.3	-	2	203	c.78C>T	c.(76-78)cgC>cgT	p.R26R	S1PR5_ENST00000333430.4_Silent_p.R26R	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	26					regulation of neuron differentiation (GO:0045664)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12					Fingolimod(DB08868)	AGCGCGCACCGCGGAGCTTGC	0.692																																						ENST00000439028.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12						c.(76-78)cgC>cgT		sphingosine-1-phosphate receptor 5							21.0	23.0	23.0					19																	10625610		2184	4258	6442	SO:0001819	synonymous_variant	53637					integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:10625610G>A	AK074661	CCDS12240.1	19p13.2	2012-08-08	2008-04-30	2008-04-30		ENSG00000180739		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	14299	protein-coding gene	gene with protein product		605146	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 8"""	EDG8		10799507	Standard	NM_030760		Approved	Edg-8	uc002mou.2	Q9H228		ENST00000439028.3:c.78C>T	19.37:g.10625610G>A						S1PR5_ENST00000333430.4_Silent_p.R26R	p.R26R	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN			2	203	-			26					Q6NW11	Silent	SNP	ENST00000439028.3	37	c.78C>T	CCDS12240.1																																																																																				0.692	S1PR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452015.1	NM_030760		21	30	0	0	0	1	0	21	30				
COL1A1	1277	broad.mit.edu	37	17	48278809	48278809	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:48278809G>A	ENST00000225964.5	-	1	184	c.66C>T	c.(64-66)ggC>ggT	p.G22G		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	22			G -> R (in OI2). {ECO:0000269|PubMed:16786509}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	CTTCCTCTTGGCCGTGCGTCA	0.572			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															ENST00000225964.5				Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	"""PDGFB, USP6"""		"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """	COL1A1/PDGFB(429)	0				NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(64-66)ggC>ggT		collagen, type I, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						70.0	60.0	63.0					17																	48278809		2203	4300	6503	SO:0001819	synonymous_variant	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48278809G>A	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.66C>T	17.37:g.48278809G>A							p.G22G	NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN			1	184	-			22		G -> R (in OI2A).			O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Silent	SNP	ENST00000225964.5	37	c.66C>T	CCDS11561.1																																																																																				0.572	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			3	35	0	0	0	1	0	3	35				
CCDC40	55036	broad.mit.edu	37	17	78039387	78039387	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:78039387C>T	ENST00000397545.4	+	10	1571	c.1544C>T	c.(1543-1545)gCg>gTg	p.A515V	CCDC40_ENST00000374876.4_Intron|CCDC40_ENST00000269318.5_Missense_Mutation_p.A515V|CCDC40_ENST00000374877.3_Missense_Mutation_p.A515V	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	515					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCGCACAGGGCGGTGCTGGAG	0.687																																						ENST00000397545.4																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38						c.(1543-1545)gCg>gTg		coiled-coil domain containing 40							39.0	46.0	44.0					17																	78039387		2105	4223	6328	SO:0001583	missense	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78039387C>T	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1544C>T	17.37:g.78039387C>T	ENSP00000380679:p.Ala515Val					CCDC40_ENST00000374876.4_Intron|CCDC40_ENST00000269318.5_Missense_Mutation_p.A515V|CCDC40_ENST00000374877.3_Missense_Mutation_p.A515V	p.A515V	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		10	1571	+	all_neural(118;0.167)		515					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	c.1544C>T	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	C	9.028	0.986668	0.18889	.	.	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000397545	T;T;T	0.51817	0.69;2.06;0.7	5.14	3.14	0.36123	.	.	.	.	.	T	0.53029	0.1771	M	0.78049	2.395	0.09310	N	1	D;D	0.57571	0.967;0.98	B;P	0.46320	0.251;0.512	T	0.46105	-0.9215	9	0.46703	T	0.11	-4.5877	10.9853	0.47518	0.0:0.8454:0.0:0.1546	.	515;298	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	V	515	ENSP00000364011:A515V;ENSP00000269318:A515V;ENSP00000380679:A515V	ENSP00000269318:A515V	A	+	2	0	CCDC40	75653982	0.005000	0.15991	0.000000	0.03702	0.032000	0.12392	2.040000	0.41203	0.555000	0.29079	0.655000	0.94253	GCG		0.687	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		52	56	0	0	0	1	0	52	56				
GPR108	56927	broad.mit.edu	37	19	6733590	6733590	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:6733590G>A	ENST00000264080.7	-	8	740	c.714C>T	c.(712-714)ttC>ttT	p.F238F	GPR108_ENST00000598626.1_5'Flank|GPR108_ENST00000430424.4_5'UTR	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	238						integral component of membrane (GO:0016021)		p.F238F(1)		breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						CCGTGATGTCGAATGGATGCT	0.622																																						ENST00000264080.7																			1	Substitution - coding silent(1)	p.F238F(1)	large_intestine(1)	breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						c.(712-714)ttC>ttT		G protein-coupled receptor 108							90.0	87.0	88.0					19																	6733590		2053	4200	6253	SO:0001819	synonymous_variant	56927					integral to membrane		g.chr19:6733590G>A		CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734		"""GPCR / Unclassified : 7TM orphan receptors"""	17829	protein-coding gene	gene with protein product							Standard	NM_001080452		Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.714C>T	19.37:g.6733590G>A						GPR108_ENST00000430424.4_5'UTR	p.F238F	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN			8	740	-			238					B9EJD7	Silent	SNP	ENST00000264080.7	37	c.714C>T	CCDS42479.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.058215	0.36277	.	.	ENSG00000125734	ENST00000549846	.	.	.	3.92	-4.52	0.03472	.	.	.	.	.	.	.	.	.	.	.	0.26610	N	0.972859	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0426	9.8805	0.41231	0.7222:0.0:0.2778:0.0	.	.	.	.	X	221	.	.	R	-	1	2	GPR108	6684590	0.011000	0.17503	0.391000	0.26233	0.884000	0.51177	-0.362000	0.07602	-0.628000	0.05582	0.555000	0.69702	CGA		0.622	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2			4	114	0	0	0	1	0	4	114				
GSTM5	2949	broad.mit.edu	37	1	110254902	110254902	+	De_novo_Start_OutOfFrame	SNP	T	T	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:110254902T>G	ENST00000256593.3	+	0	26				GSTM5_ENST00000369812.5_De_novo_Start_OutOfFrame|GSTM5_ENST00000369813.1_De_novo_Start_InFrame	NM_000851.3	NP_000842.2	P46439	GSTM5_HUMAN	glutathione S-transferase mu 5						glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	GCTCCGCTGATGCCTGTCTGC	0.672																																						ENST00000369812.5																			0				NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21								glutathione S-transferase mu 5	Glutathione(DB00143)						103.0	111.0	109.0					1																	110254902		2203	4300	6503			2949				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity	g.chr1:110254902T>G	L02321	CCDS811.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134201	ENSG00000134201	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4637	protein-coding gene	gene with protein product		138385	"""glutathione S-transferase M5"""			8473333	Standard	NM_000851		Approved		uc001dyn.3	P46439	OTTHUMG00000011644	ENST00000256593.3:c.-33T>G	1.37:g.110254902T>G						GSTM5_ENST00000256593.3_De_novo_Start_OutOfFrame|GSTM5_ENST00000369813.1_De_novo_Start_InFrame				P46439	GSTM5_HUMAN		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	0	39	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)						A8K0V8|Q6PD78	Translation_Start_Site	SNP	ENST00000256593.3	37		CCDS811.1																																																																																				0.672	GSTM5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032200.1	NM_000851		13	226	0	0	0	1	0	13	226				
COL22A1	169044	broad.mit.edu	37	8	139833404	139833404	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:139833404C>T	ENST00000303045.6	-	7	1666	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	COL22A1_ENST00000435777.1_Missense_Mutation_p.R407H	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	407	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GTCGTAGAGGCGCTTGCCAAT	0.592										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(1219-1221)cGc>cAc		collagen, type XXII, alpha 1							187.0	131.0	150.0					8																	139833404		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139833404C>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1220G>A	8.37:g.139833404C>T	ENSP00000303153:p.Arg407His	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Missense_Mutation_p.R407H	p.R407H	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		7	1666	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		407			TSP N-terminal.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.1220G>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497217	0.85069	.	.	ENSG00000169436	ENST00000303045;ENST00000435777	T;T	0.02472	4.28;4.28	5.21	5.21	0.72293	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.50627	D	0.000108	T	0.17152	0.0412	M	0.81497	2.545	0.53005	D	0.999961	D	0.89917	1.0	D	0.83275	0.996	T	0.00168	-1.1963	9	.	.	.	.	18.1827	0.89783	0.0:1.0:0.0:0.0	.	407	Q8NFW1	COMA1_HUMAN	H	407	ENSP00000303153:R407H;ENSP00000387655:R407H	.	R	-	2	0	COL22A1	139902586	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	5.698000	0.68302	2.616000	0.88540	0.558000	0.71614	CGC		0.592	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		44	29	0	0	0	1	0	44	29				
ESPN	83715	broad.mit.edu	37	1	6488424	6488424	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:6488424G>A	ENST00000377828.1	+	2	601	c.433G>A	c.(433-435)Gct>Act	p.A145T	MIR4252_ENST00000585139.1_RNA	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	145					locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		TATCCACTACGCTGCCGCCAA	0.652																																						ENST00000377828.1																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17						c.(433-435)Gct>Act		espin							48.0	52.0	51.0					1																	6488424		2202	4300	6502	SO:0001583	missense	83715				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding	g.chr1:6488424G>A	AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"""Ankyrin repeat domain containing"""	13281	protein-coding gene	gene with protein product		606351	"""deafness, autosomal recessive 36"""	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.433G>A	1.37:g.6488424G>A	ENSP00000367059:p.Ala145Thr						p.A145T	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)	2	601	+	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)	145					Q6XYB2|Q9H0A2|Q9Y329	Missense_Mutation	SNP	ENST00000377828.1	37	c.433G>A	CCDS70.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802952	0.90623	.	.	ENSG00000187017	ENST00000377828	T	0.81163	-1.46	4.32	4.32	0.51571	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000002	D	0.89914	0.6853	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91698	0.5371	10	0.87932	D	0	-14.2966	15.5721	0.76349	0.0:0.0:1.0:0.0	.	145	B1AK53	ESPN_HUMAN	T	145	ENSP00000367059:A145T	ENSP00000367059:A145T	A	+	1	0	ESPN	6411011	1.000000	0.71417	0.824000	0.32777	0.871000	0.50021	7.269000	0.78482	2.226000	0.72624	0.563000	0.77884	GCT		0.652	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001887.3	NM_031475		36	35	0	0	0	1	0	36	35				
HCAR1	27198	broad.mit.edu	37	12	123213948	123213948	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:123213948C>T	ENST00000436083.2	-	1	1442	c.939G>A	c.(937-939)atG>atA	p.M313I	RP11-324E6.9_ENST00000602891.1_lincRNA|HCAR1_ENST00000356987.2_Missense_Mutation_p.M313I|HCAR1_ENST00000432564.1_Missense_Mutation_p.M313I			Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	313					response to estradiol (GO:0032355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						TCGAAATTGGCATCTCTTCCG	0.488																																						ENST00000432564.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						c.(937-939)atG>atA		hydroxycarboxylic acid receptor 1							172.0	171.0	171.0					12																	123213948		2203	4300	6503	SO:0001583	missense	27198				response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:123213948C>T	AF411110	CCDS9236.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000196917	ENSG00000196917		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	4532	protein-coding gene	gene with protein product	"""lactate receptor 1"""	606923	"""G protein-coupled receptor 104"", ""G protein-coupled receptor 81"""	GPR104, GPR81		11574155, 19047060, 18952058, 21454438	Standard	NM_032554		Approved	HCA1, FKSG80, TA-GPCR, LACR1	uc001ucz.3	Q9BXC0		ENST00000436083.2:c.939G>A	12.37:g.123213948C>T	ENSP00000409980:p.Met313Ile					HCAR1_ENST00000436083.2_Missense_Mutation_p.M313I|HCAR1_ENST00000356987.2_Missense_Mutation_p.M313I	p.M313I	NM_032554.3	NP_115943.1	Q9BXC0	HCAR1_HUMAN			1	1181	-			313					B2R9X4|Q3Y5J3|Q4VBN1|Q6NXU5	Missense_Mutation	SNP	ENST00000436083.2	37	c.939G>A	CCDS9236.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.881177	0.33255	.	.	ENSG00000196917	ENST00000356987;ENST00000432564;ENST00000436083	T;T;T	0.59906	0.23;0.23;0.23	5.77	3.96	0.45880	.	0.381626	0.26086	N	0.026427	T	0.51244	0.1663	M	0.64997	1.995	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43048	-0.9415	10	0.34782	T	0.22	-4.2614	9.0699	0.36486	0.0:0.8484:0.0:0.1516	.	313	Q9BXC0	HCAR1_HUMAN	I	313	ENSP00000349478:M313I;ENSP00000389255:M313I;ENSP00000409980:M313I	ENSP00000349478:M313I	M	-	3	0	HCAR1	121779901	.	.	0.163000	0.22734	0.311000	0.27955	.	.	0.795000	0.33922	0.655000	0.94253	ATG		0.488	HCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401415.1			54	187	0	0	0	1	0	54	187				
HSPA8	3312	broad.mit.edu	37	11	122928465	122928465	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:122928465G>A	ENST00000532636.1	-	9	2037	c.1918C>T	c.(1918-1920)Ccc>Tcc	p.P640S	SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000453788.2_Missense_Mutation_p.P487S|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000526110.1_Missense_Mutation_p.P621S|HSPA8_ENST00000227378.3_Missense_Mutation_p.P640S|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000534319.1_Missense_Mutation_p.P404S|HSPA8_ENST00000533540.1_Missense_Mutation_p.P494S|HSPA8_ENST00000534624.1_Missense_Mutation_p.P640S			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	640					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TCAATGGTGGGCCCTGAGGAA	0.498																																					Colon(21;486 594 5900 6733 14272)	ENST00000534624.1																			0				breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36						c.(1918-1920)Ccc>Tcc		heat shock 70kDa protein 8							70.0	75.0	73.0					11																	122928465		2202	4299	6501	SO:0001583	missense	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122928465G>A	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.1918C>T	11.37:g.122928465G>A	ENSP00000437125:p.Pro640Ser					HSPA8_ENST00000227378.3_Missense_Mutation_p.P640S|HSPA8_ENST00000526110.1_Missense_Mutation_p.P621S|HSPA8_ENST00000534319.1_Missense_Mutation_p.P404S|HSPA8_ENST00000533540.1_Missense_Mutation_p.P494S|HSPA8_ENST00000532636.1_Missense_Mutation_p.P640S|HSPA8_ENST00000453788.2_Missense_Mutation_p.P487S	p.P640S	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	9	2194	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	640					Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.1918C>T	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.636127	0.87760	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000534319;ENST00000526110	T;T;T;T;T;T;T	0.03607	5.19;4.56;5.19;3.87;5.19;4.13;5.24	4.65	4.65	0.58169	.	0.117637	0.56097	N	0.000030	T	0.20251	0.0487	M	0.84846	2.72	0.80722	D	1	P;P;P	0.51449	0.909;0.945;0.909	P;P;P	0.62382	0.641;0.803;0.901	T	0.01545	-1.1328	10	0.87932	D	0	-13.7982	17.8802	0.88838	0.0:0.0:1.0:0.0	.	640;487;640	Q53GZ6;P11142-2;P11142	.;.;HSP7C_HUMAN	S	640;494;640;487;640;404;621	ENSP00000437125:P640S;ENSP00000437189:P494S;ENSP00000432083:P640S;ENSP00000404372:P487S;ENSP00000227378:P640S;ENSP00000433316:P404S;ENSP00000433584:P621S	ENSP00000227378:P640S	P	-	1	0	HSPA8	122433675	1.000000	0.71417	0.991000	0.47740	0.879000	0.50718	9.827000	0.99397	2.285000	0.76669	0.561000	0.74099	CCC		0.498	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			49	20	0	0	0	1	0	49	20				
MFI2	4241	broad.mit.edu	37	3	196736498	196736498	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:196736498C>T	ENST00000296350.5	-	11	1629	c.1516G>A	c.(1516-1518)Gtc>Atc	p.V506I		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	506	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CCTGTGAGGACGTCACAGTCC	0.627																																						ENST00000296350.5																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20						c.(1516-1518)Gtc>Atc		antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5							39.0	44.0	42.0					3																	196736498		2203	4300	6503	SO:0001583	missense	4241				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding	g.chr3:196736498C>T		CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"""CD molecules"""	7037	protein-coding gene	gene with protein product	"""melanotransferrin"", ""membrane-bound transferrin-like protein"""	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.1516G>A	3.37:g.196736498C>T	ENSP00000296350:p.Val506Ile						p.V506I	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)	11	1629	-	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		506			Transferrin-like 2.		Q9BQE2	Missense_Mutation	SNP	ENST00000296350.5	37	c.1516G>A	CCDS3325.1	.	.	.	.	.	.	.	.	.	.	C	3.456	-0.111036	0.06881	.	.	ENSG00000163975	ENST00000296350	T	0.34667	1.35	5.29	-1.92	0.07618	.	0.442010	0.22516	N	0.059021	T	0.19248	0.0462	N	0.17594	0.5	0.80722	D	1	B	0.20459	0.045	B	0.22880	0.042	T	0.07121	-1.0789	10	0.24483	T	0.36	-21.3603	11.1103	0.48228	0.0:0.3268:0.0:0.6732	.	506	P08582	TRFM_HUMAN	I	506	ENSP00000296350:V506I	ENSP00000296350:V506I	V	-	1	0	MFI2	198220895	0.270000	0.24152	0.864000	0.33941	0.251000	0.25915	0.262000	0.18460	-0.222000	0.09958	-0.471000	0.05019	GTC		0.627	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1			22	69	0	0	0	1	0	22	69				
CEP89	84902	broad.mit.edu	37	19	33372750	33372750	+	Splice_Site	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:33372750C>A	ENST00000305768.5	-	18	2223	c.2135G>T	c.(2134-2136)aGa>aTa	p.R712I		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	712					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CATGCCCCACCTGTTCTGCTG	0.587																																						ENST00000305768.4																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						c.e18+1		centrosomal protein 89kDa							30.0	23.0	25.0					19																	33372750		2203	4300	6503	SO:0001630	splice_region_variant	84902					centrosome|spindle pole		g.chr19:33372750C>A	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"""coiled-coil domain containing 123"""	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.2135+1G>T	19.37:g.33372750C>A							p.R712_splice	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN			18	2223	-			712					B9EGA6|Q8N5J8	Splice_Site	SNP	ENST00000305768.5	37	c.2135_splice	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	c	21.2	4.117422	0.77323	.	.	ENSG00000121289	ENST00000305768	T	0.35789	1.29	5.76	5.76	0.90799	.	0.080263	0.50627	D	0.000110	T	0.55862	0.1947	L	0.49350	1.555	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.46816	-0.9164	9	.	.	.	-18.0763	18.7385	0.91765	0.0:1.0:0.0:0.0	.	712	Q96ST8	CEP89_HUMAN	I	712	ENSP00000306105:R712I	.	R	-	2	0	CEP89	38064590	1.000000	0.71417	0.999000	0.59377	0.418000	0.31294	3.909000	0.56363	2.734000	0.93682	0.556000	0.70494	AGA		0.587	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816	Missense_Mutation	6	20	1	0	3.59834e-05	1	3.86991e-05	6	20				
ZIK1	284307	broad.mit.edu	37	19	58101931	58101931	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:58101931A>G	ENST00000597850.1	+	4	967	c.752A>G	c.(751-753)aAg>aGg	p.K251R	ZIK1_ENST00000599456.1_Missense_Mutation_p.K196R|ZIK1_ENST00000536878.2_Missense_Mutation_p.K238R|ZIK1_ENST00000307468.4_3'UTR	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	251					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTCCGTGGCAAGTACTCACTT	0.458																																						ENST00000597850.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(751-753)aAg>aGg		zinc finger protein interacting with K protein 1							55.0	56.0	56.0					19																	58101931		2203	4300	6503	SO:0001583	missense	284307				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58101931A>G	AK092538	CCDS33135.1	19q13.43	2013-01-08	2012-12-07		ENSG00000171649	ENSG00000171649		"""Zinc fingers, C2H2-type"", ""-"""	33104	protein-coding gene	gene with protein product			"""zinc finger protein interacting with K protein 1 homolog (mouse)"""				Standard	XM_005258769		Approved	ZNF762	uc002qpg.3	Q3SY52		ENST00000597850.1:c.752A>G	19.37:g.58101931A>G	ENSP00000472867:p.Lys251Arg					ZIK1_ENST00000536878.2_Missense_Mutation_p.K238R|ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000599456.1_Missense_Mutation_p.K196R	p.K251R	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	967	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	251					O43339|Q3SY51|Q3SY53	Missense_Mutation	SNP	ENST00000597850.1	37	c.752A>G	CCDS33135.1	.	.	.	.	.	.	.	.	.	.	A	6.902	0.536060	0.13188	.	.	ENSG00000171649	ENST00000536878;ENST00000356724;ENST00000307468	T	0.15834	2.39	3.36	-1.61	0.08399	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07413	0.0187	N	0.16307	0.4	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.08055	0.003;0.002	T	0.40646	-0.9552	9	0.16896	T	0.51	.	2.983	0.05960	0.3349:0.0:0.3279:0.3372	.	238;251	F5H435;Q3SY52	.;ZIK1_HUMAN	R	238;232;251	ENSP00000438487:K238R	ENSP00000303820:K251R	K	+	2	0	ZIK1	62793743	0.000000	0.05858	0.000000	0.03702	0.539000	0.34962	-0.302000	0.08221	-0.617000	0.05664	0.528000	0.53228	AAG		0.458	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466791.1	NM_001010879		4	87	0	0	0	1	0	4	87				
SERPINB13	5275	broad.mit.edu	37	18	61264495	61264495	+	Silent	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr18:61264495C>A	ENST00000344731.5	+	8	1176	c.1074C>A	c.(1072-1074)gcC>gcA	p.A358A	SERPINB13_ENST00000269489.5_Silent_p.A306A	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	358					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TCACATCCGCCCCAGGTCATG	0.507																																						ENST00000344731.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						c.(1072-1074)gcC>gcA		serpin peptidase inhibitor, clade B (ovalbumin), member 13							86.0	72.0	77.0					18																	61264495		2203	4300	6503	SO:0001819	synonymous_variant	5275				regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	g.chr18:61264495C>A	AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"""Serine (or cysteine) peptidase inhibitors"""	8944	protein-coding gene	gene with protein product		604445	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"""	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.1074C>A	18.37:g.61264495C>A						SERPINB13_ENST00000269489.5_Silent_p.A306A	p.A358A	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN			8	1176	+			358					A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Silent	SNP	ENST00000344731.5	37	c.1074C>A	CCDS11985.1																																																																																				0.507	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1	NM_012397		24	61	1	0	1.10923e-09	1	1.24706e-09	24	61				
BIN1	274	broad.mit.edu	37	2	127827599	127827599	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:127827599G>A	ENST00000316724.5	-	5	794	c.383C>T	c.(382-384)aCg>aTg	p.T128M	BIN1_ENST00000259238.4_Missense_Mutation_p.T128M|BIN1_ENST00000346226.3_Missense_Mutation_p.T128M|BIN1_ENST00000352848.3_Missense_Mutation_p.T128M|BIN1_ENST00000357970.3_Missense_Mutation_p.T128M|BIN1_ENST00000351659.3_Missense_Mutation_p.T128M|BIN1_ENST00000376113.2_Missense_Mutation_p.T128M|BIN1_ENST00000393040.3_Missense_Mutation_p.T128M|BIN1_ENST00000348750.4_Missense_Mutation_p.T128M|BIN1_ENST00000409400.1_Missense_Mutation_p.T128M|BIN1_ENST00000393041.3_Missense_Mutation_p.T128M	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	128	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|tau protein binding (GO:0048156)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GCCCAGGTACGTGTCCATGGT	0.602																																						ENST00000316724.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24						c.(382-384)aCg>aTg		bridging integrator 1							139.0	108.0	118.0					2																	127827599		2203	4300	6503	SO:0001583	missense	274				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus		g.chr2:127827599G>A	U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717			1052	protein-coding gene	gene with protein product	"""amphiphysin II"""	601248		AMPHL		8725406, 8782822, 17676042	Standard	NM_004305		Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.383C>T	2.37:g.127827599G>A	ENSP00000316779:p.Thr128Met					BIN1_ENST00000393040.3_Missense_Mutation_p.T128M|BIN1_ENST00000357970.3_Missense_Mutation_p.T128M|BIN1_ENST00000376113.2_Missense_Mutation_p.T128M|BIN1_ENST00000351659.3_Missense_Mutation_p.T128M|BIN1_ENST00000393041.3_Missense_Mutation_p.T128M|BIN1_ENST00000348750.4_Missense_Mutation_p.T128M|BIN1_ENST00000259238.4_Missense_Mutation_p.T128M|BIN1_ENST00000346226.3_Missense_Mutation_p.T128M|BIN1_ENST00000409400.1_Missense_Mutation_p.T128M|BIN1_ENST00000352848.3_Missense_Mutation_p.T128M	p.T128M	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	5	794	-	Colorectal(110;0.0831)		128			BAR.		O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Missense_Mutation	SNP	ENST00000316724.5	37	c.383C>T	CCDS2138.1	.	.	.	.	.	.	.	.	.	.	.	24.9	4.585349	0.86748	.	.	ENSG00000136717	ENST00000376113;ENST00000357970;ENST00000393040;ENST00000348750;ENST00000259238;ENST00000346226;ENST00000393041;ENST00000351659;ENST00000352848;ENST00000316724;ENST00000409400	T;T;T;T;T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	4.8	3.91	0.45181	BAR (3);	0.000000	0.85682	D	0.000000	T	0.72985	0.3529	M	0.73962	2.25	0.80722	D	1	P;P;P;P;P;P;P;P;P;D;P;P;P	0.61697	0.939;0.874;0.823;0.878;0.871;0.928;0.956;0.656;0.651;0.99;0.651;0.876;0.797	P;P;B;P;P;B;P;B;B;P;B;P;B	0.55785	0.708;0.49;0.441;0.459;0.518;0.405;0.633;0.435;0.249;0.784;0.296;0.47;0.351	T	0.77795	-0.2454	10	0.87932	D	0	-12.6069	13.9031	0.63817	0.0:0.1543:0.8457:0.0	.	128;104;128;128;128;128;128;128;128;128;128;128;128	B7Z2Z2;B7Z6Y2;O00499-4;O00499-7;O00499-6;O00499-2;O00499-3;O00499-8;O00499-11;O00499-5;O00499-10;O00499-9;O00499	.;.;.;.;.;.;.;.;.;.;.;.;BIN1_HUMAN	M	128	ENSP00000365281:T128M;ENSP00000350654:T128M;ENSP00000376760:T128M;ENSP00000259237:T128M;ENSP00000259238:T128M;ENSP00000315411:T128M;ENSP00000376761:T128M;ENSP00000315388:T128M;ENSP00000315284:T128M;ENSP00000316779:T128M;ENSP00000386797:T128M	ENSP00000259238:T128M	T	-	2	0	BIN1	127544069	1.000000	0.71417	0.922000	0.36590	0.998000	0.95712	6.117000	0.71577	1.218000	0.43458	0.556000	0.70494	ACG		0.602	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254298.2	NM_139343		27	44	0	0	0	1	0	27	44				
WDR70	55100	broad.mit.edu	37	5	37443410	37443410	+	Missense_Mutation	SNP	T	T	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:37443410T>G	ENST00000265107.4	+	7	778	c.622T>G	c.(622-624)Ttt>Gtt	p.F208V	WDR70_ENST00000504564.1_Missense_Mutation_p.F208V	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	208							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGATGTTAAGTTTTGGGATTT	0.398																																						ENST00000265107.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(622-624)Ttt>Gtt		WD repeat domain 70							163.0	141.0	148.0					5																	37443410		2203	4300	6503	SO:0001583	missense	55100							g.chr5:37443410T>G	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.622T>G	5.37:g.37443410T>G	ENSP00000265107:p.Phe208Val					WDR70_ENST00000504564.1_Missense_Mutation_p.F208V	p.F208V	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	778	+	all_lung(31;0.000285)		208					Q9H053	Missense_Mutation	SNP	ENST00000265107.4	37	c.622T>G	CCDS34147.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.651034	0.88056	.	.	ENSG00000082068	ENST00000265107;ENST00000504564	T;T	0.53206	0.63;0.63	4.91	4.91	0.64330	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.44787	0.1310	N	0.02973	-0.45	0.80722	D	1	D;D	0.76494	0.995;0.999	D;D	0.77004	0.989;0.96	T	0.60459	-0.7259	10	0.52906	T	0.07	-14.9394	14.833	0.70162	0.0:0.0:0.0:1.0	.	208;208	D6RIW8;Q9NW82	.;WDR70_HUMAN	V	208	ENSP00000265107:F208V;ENSP00000425841:F208V	ENSP00000265107:F208V	F	+	1	0	WDR70	37479167	1.000000	0.71417	0.991000	0.47740	0.989000	0.77384	5.920000	0.70017	1.973000	0.57446	0.402000	0.26972	TTT		0.398	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		32	90	0	0	0	1	0	32	90				
PCDHB4	56131	broad.mit.edu	37	5	140503168	140503168	+	Missense_Mutation	SNP	G	G	A	rs548587269		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:140503168G>A	ENST00000194152.1	+	1	1588	c.1588G>A	c.(1588-1590)Gtg>Atg	p.V530M	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	530	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGTTCCGCGTGGGCGCCTC	0.672																																						ENST00000194152.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(1588-1590)Gtg>Atg									61.0	68.0	66.0					5																	140503168		2203	4298	6501	SO:0001583	missense	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140503168G>A	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1588G>A	5.37:g.140503168G>A	ENSP00000194152:p.Val530Met						p.V530M	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1588	+			530			Cadherin 5.		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.1588G>A	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315044	0.60524	.	.	ENSG00000081818	ENST00000194152	T	0.71698	-0.59	3.97	3.97	0.46021	Cadherin (5);Cadherin-like (1);	.	.	.	.	D	0.87309	0.6145	H	0.96239	3.79	0.39732	D	0.971629	D	0.89917	1.0	D	0.79108	0.992	D	0.90002	0.4115	9	0.72032	D	0.01	.	10.041	0.42158	0.0947:0.0:0.9053:0.0	.	530	Q9Y5E5	PCDB4_HUMAN	M	530	ENSP00000194152:V530M	ENSP00000194152:V530M	V	+	1	0	PCDHB4	140483352	1.000000	0.71417	0.987000	0.45799	0.944000	0.59088	4.365000	0.59486	2.237000	0.73441	0.556000	0.70494	GTG		0.672	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		84	19	0	0	0	1	0	84	19				
ARHGAP33	115703	broad.mit.edu	37	19	36277884	36277884	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:36277884C>T	ENST00000007510.4	+	20	2656	c.2512C>T	c.(2512-2514)Ccc>Tcc	p.P838S	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.P677S|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.P702S|AC002398.5_ENST00000433059.1_lincRNA			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	838					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CCATCTCATACCCCTGCTGCT	0.701																																						ENST00000007510.4																			0				endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(2512-2514)Ccc>Tcc		Rho GTPase activating protein 33							14.0	18.0	17.0					19																	36277884		2200	4290	6490	SO:0001583	missense	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36277884C>T	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.2512C>T	19.37:g.36277884C>T	ENSP00000007510:p.Pro838Ser					ARHGAP33_ENST00000378944.5_Missense_Mutation_p.P702S|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.P677S	p.P838S			O14559	RHG33_HUMAN			20	2656	+			838					O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	ENST00000007510.4	37	c.2512C>T		.	.	.	.	.	.	.	.	.	.	C	8.543	0.873711	0.17322	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.10005	3.59;2.92;3.66	4.5	4.5	0.54988	.	0.088766	0.46758	D	0.000276	T	0.04952	0.0133	N	0.14661	0.345	0.38677	D	0.952442	B;B;B	0.32573	0.259;0.376;0.376	B;B;B	0.29598	0.048;0.104;0.104	T	0.19484	-1.0304	10	0.02654	T	1	.	10.4104	0.44289	0.0:0.904:0.0:0.0959	.	838;702;677	O14559;O14559-10;O14559-11	RHG33_HUMAN;.;.	S	838;677;702	ENSP00000007510:P838S;ENSP00000320038:P677S;ENSP00000368227:P702S	ENSP00000007510:P838S	P	+	1	0	ARHGAP33	40969724	0.592000	0.26832	1.000000	0.80357	0.160000	0.22226	1.519000	0.35888	2.310000	0.77875	0.655000	0.94253	CCC		0.701	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		4	11	0	0	0	1	0	4	11				
BNIP3P1	319138	broad.mit.edu	37	14	28733883	28733883	+	RNA	SNP	G	G	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:28733883G>C	ENST00000550043.1	+	0	288									BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 1																		TTATAATGGTGACATGGAAAA	0.512																																						ENST00000550043.1																			0																																																			319138							g.chr14:28733883G>C			14q12	2014-02-04	2011-03-18	2011-03-18	ENSG00000197358	ENSG00000197358			19922	pseudogene	pseudogene			"""BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene"""	BNIP3P			Standard	NG_002516		Approved				OTTHUMG00000170378		14.37:g.28733883G>C														0	288	+									RNA	SNP	ENST00000550043.1	37																																																																																						0.512	BNIP3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000408770.1			70	74	0	0	0	1	0	70	74				
POPDC3	64208	broad.mit.edu	37	6	105606515	105606515	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:105606515C>A	ENST00000254765.3	-	4	984	c.706G>T	c.(706-708)Ggc>Tgc	p.G236C	BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA|POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000369120.2_RNA|BVES-AS1_ENST00000369122.3_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	236					regulation of membrane potential (GO:0042391)	integral component of membrane (GO:0016021)				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				ATGTCACTGCCAATTAGCACT	0.393																																						ENST00000254765.3																			0				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26						c.(706-708)Ggc>Tgc		popeye domain containing 3							197.0	198.0	198.0					6																	105606515		2203	4300	6503	SO:0001583	missense	64208					integral to membrane		g.chr6:105606515C>A	BC022323	CCDS5052.1	6q21	2003-06-12			ENSG00000132429	ENSG00000132429			17649	protein-coding gene	gene with protein product		605824				10882522	Standard	NM_022361		Approved	POP3, MGC22671, bA355M14.1	uc003prb.3	Q9HBV1	OTTHUMG00000015293	ENST00000254765.3:c.706G>T	6.37:g.105606515C>A	ENSP00000254765:p.Gly236Cys					POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580854.1_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000369120.2_RNA	p.G236C	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN			4	984	-		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)	236					B2RA98|Q5T3Y8|Q8TBW6	Missense_Mutation	SNP	ENST00000254765.3	37	c.706G>T	CCDS5052.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799842	0.70567	.	.	ENSG00000132429	ENST00000254765;ENST00000429112	T;T	0.41758	0.99;0.99	5.99	5.12	0.69794	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.102899	0.64402	D	0.000002	T	0.53997	0.1831	M	0.88704	2.975	0.53688	D	0.999973	P	0.51057	0.941	P	0.57152	0.814	T	0.64960	-0.6284	10	0.87932	D	0	-44.9992	10.6373	0.45573	0.0:0.7982:0.1335:0.0684	.	236	Q9HBV1	POPD3_HUMAN	C	236;82	ENSP00000254765:G236C;ENSP00000414409:G82C	ENSP00000254765:G236C	G	-	1	0	POPDC3	105713208	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.177000	0.42509	1.529000	0.49120	0.591000	0.81541	GGC		0.393	POPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041651.1	NM_022361		6	318	1	0	5.4927e-09	1	6.16307e-09	6	318				
GALNT6	11226	broad.mit.edu	37	12	51748216	51748216	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:51748216C>T	ENST00000543196.2	-	11	2021	c.1816G>A	c.(1816-1818)Gcc>Acc	p.A606T	GALNT6_ENST00000356317.3_Missense_Mutation_p.A606T			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	606	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGGGCCATGGCTGGCTTTTTG	0.542																																						ENST00000543196.2																			0				endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(1816-1818)Gcc>Acc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)							87.0	81.0	83.0					12																	51748216		2203	4300	6503	SO:0001583	missense	11226				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:51748216C>T	Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"""Glycosyltransferase family 2 domain containing"""	4128	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 6"""	605148	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"""			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.1816G>A	12.37:g.51748216C>T	ENSP00000444171:p.Ala606Thr					GALNT6_ENST00000356317.3_Missense_Mutation_p.A606T	p.A606T			Q8NCL4	GALT6_HUMAN			11	2021	-			606			Ricin B-type lectin.		Q8IYH4|Q9H6G2|Q9UIV5	Missense_Mutation	SNP	ENST00000543196.2	37	c.1816G>A	CCDS8813.1	.	.	.	.	.	.	.	.	.	.	C	8.560	0.877564	0.17395	.	.	ENSG00000139629	ENST00000543196;ENST00000356317;ENST00000546163	T;T	0.76316	-1.01;-1.01	4.18	3.29	0.37713	Ricin B-related lectin (1);Ricin B lectin (3);	0.731519	0.13402	N	0.390541	T	0.52821	0.1758	N	0.04880	-0.145	0.29718	N	0.838856	B	0.09022	0.002	B	0.09377	0.004	T	0.45308	-0.9270	10	0.21540	T	0.41	.	5.3138	0.15845	0.1999:0.6978:0.0:0.1022	.	606	Q8NCL4	GALT6_HUMAN	T	606;606;587	ENSP00000444171:A606T;ENSP00000348668:A606T	ENSP00000348668:A606T	A	-	1	0	GALNT6	50034483	0.000000	0.05858	1.000000	0.80357	0.669000	0.39330	0.017000	0.13399	1.355000	0.45865	0.561000	0.74099	GCC		0.542	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	NM_007210		4	53	0	0	0	1	0	4	53				
PDIA4	9601	broad.mit.edu	37	7	148718078	148718078	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:148718078G>A	ENST00000286091.4	-	2	482	c.250C>T	c.(250-252)Ctg>Ttg	p.L84L		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	84	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			TAAAACTCCAGCAGCACTGTG	0.473																																						ENST00000286091.4																			0				large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24						c.(250-252)Ctg>Ttg		protein disulfide isomerase family A, member 4							154.0	141.0	145.0					7																	148718078		2203	4300	6503	SO:0001819	synonymous_variant	9601				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr7:148718078G>A	BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"""Protein disulfide isomerases"""	30167	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 4"""			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.250C>T	7.37:g.148718078G>A							p.L84L	NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00385)		2	482	-	Melanoma(164;0.15)		84			Thioredoxin 1.		A8K4K6|Q549T6	Silent	SNP	ENST00000286091.4	37	c.250C>T	CCDS5893.1																																																																																				0.473	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911		10	24	0	0	0	1	0	10	24				
MKL2	57496	broad.mit.edu	37	16	14341240	14341240	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:14341240C>T	ENST00000341243.5	+	10	2090	c.2090C>T	c.(2089-2091)cCt>cTt	p.P697L	MKL2_ENST00000571589.1_Missense_Mutation_p.P708L|MKL2_ENST00000318282.5_Intron|MKL2_ENST00000574045.1_Intron			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	697	Gln-rich.				blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAGCCACCGCCTGCTGTTGTT	0.572																																						ENST00000571589.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2122-2124)cCt>cTt		MKL/myocardin-like 2							41.0	43.0	42.0					16																	14341240		2196	4300	6496	SO:0001583	missense	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14341240C>T	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.2090C>T	16.37:g.14341240C>T	ENSP00000345841:p.Pro697Leu					MKL2_ENST00000341243.5_Missense_Mutation_p.P697L|MKL2_ENST00000318282.5_Intron|MKL2_ENST00000574045.1_Intron	p.P708L	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN			12	2295	+			697			Gln-rich.		A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000341243.5	37	c.2123C>T		.	.	.	.	.	.	.	.	.	.	C	12.10	1.837425	0.32513	.	.	ENSG00000186260	ENST00000341243	.	.	.	5.6	5.6	0.85130	.	0.422343	0.27856	N	0.017566	T	0.37019	0.0988	.	.	.	0.09310	N	0.999998	B	0.24823	0.112	B	0.19148	0.024	T	0.11179	-1.0598	7	.	.	.	-6.4478	18.5741	0.91149	0.0:1.0:0.0:0.0	.	708	B4DGT8	.	L	697	.	.	P	+	2	0	MKL2	14248741	0.188000	0.23250	0.011000	0.14972	0.925000	0.55904	3.796000	0.55507	2.631000	0.89168	0.563000	0.77884	CCT		0.572	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		12	71	0	0	0	1	0	12	71				
IKBIP	121457	broad.mit.edu	37	12	99007664	99007664	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:99007664C>A	ENST00000342502.2	-	3	1163	c.752G>T	c.(751-753)aGt>aTt	p.S251I	IKBIP_ENST00000420861.1_Missense_Mutation_p.S145I|IKBIP_ENST00000393042.3_3'UTR	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	251					response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						GTCGAAGTCACTCTTTAGTTC	0.388																																						ENST00000342502.2																			0				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						c.(751-753)aGt>aTt		IKBKB interacting protein							118.0	117.0	118.0					12																	99007664		2202	4300	6502	SO:0001583	missense	121457				induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr12:99007664C>A	AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"""I kappa B kinase interacting protein"""	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.752G>T	12.37:g.99007664C>A	ENSP00000343471:p.Ser251Ile					IKBIP_ENST00000420861.1_Missense_Mutation_p.S145I|IKBIP_ENST00000393042.3_3'UTR	p.S251I	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN			3	1163	-			251					Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Missense_Mutation	SNP	ENST00000342502.2	37	c.752G>T	CCDS9067.1	.	.	.	.	.	.	.	.	.	.	C	6.360	0.434492	0.12045	.	.	ENSG00000166130	ENST00000342502;ENST00000420861	T;T	0.55052	0.54;0.66	5.24	-2.49	0.06403	.	.	.	.	.	T	0.43366	0.1244	L	0.50333	1.59	0.09310	N	1	P	0.41569	0.755	B	0.41088	0.347	T	0.36016	-0.9765	9	0.44086	T	0.13	.	7.5359	0.27710	0.0:0.4106:0.1082:0.4811	.	251	Q70UQ0	IKIP_HUMAN	I	251;145	ENSP00000343471:S251I;ENSP00000398023:S145I	ENSP00000343471:S251I	S	-	2	0	IKBIP	97531795	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.163000	0.03138	-0.478000	0.06823	-0.150000	0.13652	AGT		0.388	IKBIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408003.2	NM_153687		39	115	1	0	1.49673e-21	1	1.81906e-21	39	115				
IL21R	50615	broad.mit.edu	37	16	27454418	27454418	+	Missense_Mutation	SNP	G	G	C	rs148782015		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:27454418G>C	ENST00000337929.3	+	5	961	c.488G>C	c.(487-489)cGg>cCg	p.R163P	IL21R_ENST00000395755.1_Missense_Mutation_p.R163P|IL21R_ENST00000564089.1_Missense_Mutation_p.R163P|IL21R_ENST00000395754.4_Missense_Mutation_p.R163P	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	163	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						TACAGGAACCGGGGAGACCCC	0.557			T	BCL6	NHL																																	ENST00000337929.3				Dom	yes		16	16p11	50615	T	interleukin 21 receptor			L	BCL6		NHL		0				breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						c.(487-489)cGg>cCg		interleukin 21 receptor							69.0	59.0	62.0					16																	27454418		2197	4300	6497	SO:0001583	missense	50615				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	g.chr16:27454418G>C	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.488G>C	16.37:g.27454418G>C	ENSP00000338010:p.Arg163Pro					IL21R_ENST00000395754.4_Missense_Mutation_p.R163P|IL21R_ENST00000564089.1_Missense_Mutation_p.R163P|IL21R_ENST00000395755.1_Missense_Mutation_p.R163P	p.R163P	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN			5	961	+			163			Fibronectin type-III.		A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	ENST00000337929.3	37	c.488G>C	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	G	9.760	1.169825	0.21621	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	D;D;D	0.95588	-3.75;-3.75;-3.75	4.7	-9.41	0.00613	Fibronectin, type III (2);Immunoglobulin-like fold (1);	3.444870	0.00841	N	0.001753	D	0.90964	0.7159	L	0.33485	1.01	0.09310	N	1	D	0.53885	0.963	P	0.49528	0.614	D	0.84829	0.0801	10	0.42905	T	0.14	-4.9571	1.4329	0.02337	0.3343:0.0981:0.1378:0.4298	.	163	Q9HBE5	IL21R_HUMAN	P	163	ENSP00000338010:R163P;ENSP00000379104:R163P;ENSP00000379103:R163P	ENSP00000338010:R163P	R	+	2	0	IL21R	27361919	0.000000	0.05858	0.001000	0.08648	0.650000	0.38633	-1.514000	0.02254	-1.092000	0.03062	0.484000	0.47621	CGG		0.557	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		8	70	0	0	0	1	0	8	70				
TRIM51HP	440041	broad.mit.edu	37	11	55065372	55065372	+	RNA	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:55065372C>A	ENST00000526016.1	-	0	336					NR_038174.2				tripartite motif-containing 51H, pseudogene																		GGGACAGTGTCTGTGATTCCG	0.458																																						ENST00000526016.1																			0																																																			440041							g.chr11:55065372C>A			11q11	2012-11-02			ENSG00000166007	ENSG00000166007		"""Triparite motif-containing / Pseudogenes"""	43977	pseudogene	pseudogene							Standard	NR_038174		Approved		uc021qjb.1		OTTHUMG00000166775		11.37:g.55065372C>A								NR_038174.2						0	336	-									RNA	SNP	ENST00000526016.1	37																																																																																						0.458	TRIM51HP-002	PUTATIVE	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000391438.1			5	74	1	0	0.00116845	1	0.00121758	5	74				
OR10G2	26534	broad.mit.edu	37	14	22102238	22102238	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:22102238G>A	ENST00000542433.1	-	1	858	c.761C>T	c.(760-762)aCa>aTa	p.T254I		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		ATAGTAGACTGTGACCACGAT	0.547																																						ENST00000542433.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22						c.(760-762)aCa>aTa		olfactory receptor, family 10, subfamily G, member 2							28.0	31.0	30.0					14																	22102238		2202	4297	6499	SO:0001583	missense	26534				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22102238G>A		CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"""GPCR / Class A : Olfactory receptors"""	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.761C>T	14.37:g.22102238G>A	ENSP00000445383:p.Thr254Ile						p.T254I	NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN		GBM - Glioblastoma multiforme(265;0.0142)	1	858	-	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	254					B2RPD0	Missense_Mutation	SNP	ENST00000542433.1	37	c.761C>T	CCDS32047.1	.	.	.	.	.	.	.	.	.	.	G	9.905	1.207934	0.22205	.	.	ENSG00000255582	ENST00000542433	T	0.37584	1.19	3.92	3.92	0.45320	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41823	D	0.000802	T	0.39064	0.1064	N	0.17922	0.545	0.31976	N	0.606514	D	0.89917	1.0	D	0.91635	0.999	T	0.16778	-1.0391	10	0.08179	T	0.78	-8.9666	13.4661	0.61254	0.0:0.0:1.0:0.0	.	254	Q8NGC3	O10G2_HUMAN	I	254	ENSP00000445383:T254I	ENSP00000445383:T254I	T	-	2	0	OR10G2	21172078	0.000000	0.05858	0.997000	0.53966	0.156000	0.22039	0.204000	0.17335	2.027000	0.59764	0.557000	0.71058	ACA		0.547	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1			40	41	0	0	0	1	0	40	41				
PRRX1	5396	broad.mit.edu	37	1	170689011	170689011	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:170689011G>A	ENST00000239461.6	+	2	699	c.386G>A	c.(385-387)cGc>cAc	p.R129H	PRRX1_ENST00000367760.3_Missense_Mutation_p.R129H|PRRX1_ENST00000497230.2_Missense_Mutation_p.R129H	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	129					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GACCTTGCCCGCCGGGTGAAC	0.537																																						ENST00000239461.6																			0				large_intestine(2)|ovary(1)	3						c.(385-387)cGc>cAc		paired related homeobox 1							101.0	91.0	95.0					1																	170689011		2203	4300	6503	SO:0001583	missense	5396					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:170689011G>A	M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"""Homeoboxes / PRD class"""	9142	protein-coding gene	gene with protein product		167420	"""paired mesoderm homeo box 1"""	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.386G>A	1.37:g.170689011G>A	ENSP00000239461:p.Arg129His					PRRX1_ENST00000367760.3_Missense_Mutation_p.R129H|PRRX1_ENST00000497230.2_Missense_Mutation_p.R129H	p.R129H	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN			2	699	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		129					B5BUM7|O60807	Missense_Mutation	SNP	ENST00000239461.6	37	c.386G>A	CCDS1290.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.860558	0.91433	.	.	ENSG00000116132	ENST00000553786;ENST00000367760;ENST00000239461;ENST00000497230	D;D;D;D	0.96265	-3.96;-3.96;-3.96;-3.96	5.43	5.43	0.79202	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.098867	0.64402	D	0.000001	D	0.97250	0.9101	M	0.62154	1.92	0.80722	D	1	D;D	0.76494	0.998;0.999	D;P	0.66497	0.944;0.818	D	0.97705	1.0187	10	0.66056	D	0.02	.	17.8253	0.88664	0.0:0.0:1.0:0.0	.	129;129	P54821;P54821-2	PRRX1_HUMAN;.	H	82;129;129;129	ENSP00000451943:R82H;ENSP00000356734:R129H;ENSP00000239461:R129H;ENSP00000450762:R129H	ENSP00000239461:R129H	R	+	2	0	PRRX1	168955635	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.545000	0.60698	2.523000	0.85059	0.655000	0.94253	CGC		0.537	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085236.3	NM_006902		34	44	0	0	0	1	0	34	44				
IDH3A	3419	broad.mit.edu	37	15	78453976	78453976	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:78453976C>T	ENST00000299518.2	+	5	426	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	IDH3A_ENST00000441490.2_Missense_Mutation_p.R6C|IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000558554.1_Intron|IDH3A_ENST00000561366.1_5'Flank|IDH3A_ENST00000559205.1_Intron	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	115					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12						TTTACTGCTGCGCAAAACATT	0.443																																						ENST00000299518.2																			0				endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12						c.(343-345)Cgc>Tgc		isocitrate dehydrogenase 3 (NAD+) alpha	NADH(DB00157)						148.0	134.0	139.0					15																	78453976		2196	4293	6489	SO:0001583	missense	3419				carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	g.chr15:78453976C>T		CCDS10297.1	15q25.1-q25.2	2008-07-18			ENSG00000166411	ENSG00000166411	1.1.1.41		5384	protein-coding gene	gene with protein product	"""H-IDH alpha"", ""isocitric dehydrogenase"", ""isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial"", ""NAD+-specific ICDH"", ""NAD(H)-specific isocitrate dehydrogenase alpha subunit"", ""isocitrate dehydrogenase (NAD+) alpha chain"""	601149				8833160	Standard	NM_005530		Approved		uc002bdd.3	P50213	OTTHUMG00000143732	ENST00000299518.2:c.343C>T	15.37:g.78453976C>T	ENSP00000299518:p.Arg115Cys					IDH3A_ENST00000559205.1_Intron|IDH3A_ENST00000441490.2_Missense_Mutation_p.R6C|IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000558554.1_Intron	p.R115C	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN			5	426	+			115					D3DW83|Q9H3X0	Missense_Mutation	SNP	ENST00000299518.2	37	c.343C>T	CCDS10297.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633487	0.87660	.	.	ENSG00000166411	ENST00000299518;ENST00000441490	T;T	0.75821	-0.97;-0.97	6.02	5.08	0.68730	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.88934	0.6572	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91506	0.5223	10	0.87932	D	0	-14.1588	15.6279	0.76878	0.1382:0.8618:0.0:0.0	.	115	P50213	IDH3A_HUMAN	C	115;6	ENSP00000299518:R115C;ENSP00000387506:R6C	ENSP00000299518:R115C	R	+	1	0	IDH3A	76241031	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.786000	0.55431	1.503000	0.48686	0.650000	0.86243	CGC		0.443	IDH3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289799.4	NM_005530		36	95	0	0	0	1	0	36	95				
AHDC1	27245	broad.mit.edu	37	1	27878049	27878049	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:27878049G>T	ENST00000247087.5	-	5	1174	c.578C>A	c.(577-579)cCc>cAc	p.P193H	AHDC1_ENST00000374011.2_Missense_Mutation_p.P193H			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	193	Pro-rich.						DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GGGATGGCTGGGCCGCTCCGA	0.677																																						ENST00000374011.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(577-579)cCc>cAc		AT hook, DNA binding motif, containing 1							49.0	55.0	53.0					1																	27878049		2203	4299	6502	SO:0001583	missense	27245						DNA binding	g.chr1:27878049G>T	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.578C>A	1.37:g.27878049G>T	ENSP00000247087:p.Pro193His					AHDC1_ENST00000482400.2_5'UTR|AHDC1_ENST00000247087.5_Missense_Mutation_p.P193H	p.P193H	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	1546	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	193			Pro-rich.		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.578C>A	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.639373	0.67244	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.52526	0.66;0.66	4.5	4.5	0.54988	.	.	.	.	.	T	0.49029	0.1533	N	0.14661	0.345	0.37654	D	0.922534	D	0.71674	0.998	P	0.62649	0.905	T	0.61297	-0.7091	9	0.87932	D	0	-2.7682	14.0976	0.65034	0.0:0.0:1.0:0.0	.	193	Q5TGY3	AHDC1_HUMAN	H	193	ENSP00000247087:P193H;ENSP00000363123:P193H	ENSP00000247087:P193H	P	-	2	0	AHDC1	27750636	0.999000	0.42202	0.990000	0.47175	0.760000	0.43138	4.426000	0.59882	2.037000	0.60232	0.467000	0.42956	CCC		0.677	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			24	63	1	0	7.87624e-14	1	9.25662e-14	24	63				
FRY	10129	broad.mit.edu	37	13	32808875	32808875	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr13:32808875G>T	ENST00000380250.3	+	42	6188	c.5692G>T	c.(5692-5694)Gga>Tga	p.G1898*		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1898						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GGAGGTGATAGGAGAACATGG	0.488																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(5692-5694)Gga>Tga		furry homolog (Drosophila)							81.0	80.0	80.0					13																	32808875		1997	4178	6175	SO:0001587	stop_gained	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32808875G>T	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.5692G>T	13.37:g.32808875G>T	ENSP00000369600:p.Gly1898*						p.G1898*	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	42	6188	+		Lung SC(185;0.0271)	1898					Q9Y3N6	Nonsense_Mutation	SNP	ENST00000380250.3	37	c.5692G>T	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	50	17.070018	0.99878	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	.	.	.	X	1898;735	.	ENSP00000369600:G1898X	G	+	1	0	FRY	31706875	1.000000	0.71417	0.990000	0.47175	0.965000	0.64279	9.869000	0.99810	2.890000	0.99128	0.650000	0.86243	GGA		0.488	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		3	34	1	0	2.56e-06	1	2.76888e-06	3	34				
DSP	1832	broad.mit.edu	37	6	7567636	7567636	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:7567636C>T	ENST00000379802.3	+	9	1435	c.1094C>T	c.(1093-1095)aCc>aTc	p.T365I	DSP_ENST00000418664.2_Missense_Mutation_p.T365I	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	365	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CTTCAGATCACCAAGTGCATT	0.378																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(1093-1095)aCc>aTc		desmoplakin							218.0	208.0	211.0					6																	7567636		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7567636C>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.1094C>T	6.37:g.7567636C>T	ENSP00000369129:p.Thr365Ile					DSP_ENST00000418664.2_Missense_Mutation_p.T365I	p.T365I	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	9	1435	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	365			Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.1094C>T	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437106	0.83885	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	D;D	0.92545	-3.06;-3.06	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000005	D	0.95398	0.8506	M	0.73217	2.22	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.76575	0.982;0.988	D	0.95449	0.8532	10	0.72032	D	0.01	.	19.2208	0.93796	0.0:1.0:0.0:0.0	.	412;365	Q4LE79;P15924	.;DESP_HUMAN	I	365;365;170	ENSP00000369129:T365I;ENSP00000396591:T365I	ENSP00000369129:T365I	T	+	2	0	DSP	7512635	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.956000	0.70315	2.594000	0.87642	0.591000	0.81541	ACC		0.378	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		56	104	0	0	0	1	0	56	104				
SFMBT1	51460	broad.mit.edu	37	3	52941644	52941644	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:52941644C>T	ENST00000394752.3	-	18	2394	c.2012G>A	c.(2011-2013)cGg>cAg	p.R671Q	SFMBT1_ENST00000296295.6_Missense_Mutation_p.R671Q|SFMBT1_ENST00000394750.1_Missense_Mutation_p.R671Q|SFMBT1_ENST00000358080.2_Missense_Mutation_p.R671Q	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	671					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		AACATTTTTCCGCCTCTTTCT	0.438																																						ENST00000394752.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24						c.(2011-2013)cGg>cAg		Scm-like with four mbt domains 1							144.0	148.0	147.0					3																	52941644		2203	4300	6503	SO:0001583	missense	51460				regulation of transcription, DNA-dependent	nucleus		g.chr3:52941644C>T	AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"""Sterile alpha motif (SAM) domain containing"""	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.2012G>A	3.37:g.52941644C>T	ENSP00000378235:p.Arg671Gln					SFMBT1_ENST00000394750.1_Missense_Mutation_p.R671Q|SFMBT1_ENST00000358080.2_Missense_Mutation_p.R671Q|SFMBT1_ENST00000296295.6_Missense_Mutation_p.R671Q	p.R671Q	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)	18	2394	-			671					Q402F7|Q96C73|Q9Y4Q9	Missense_Mutation	SNP	ENST00000394752.3	37	c.2012G>A	CCDS2867.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479102	0.84747	.	.	ENSG00000163935	ENST00000394752;ENST00000358080;ENST00000296295;ENST00000394750	T;T;T;T	0.17691	2.26;2.26;2.27;2.26	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.41213	0.1149	M	0.74881	2.28	0.58432	D	0.999999	D;D	0.59767	0.986;0.97	P;B	0.58660	0.843;0.421	T	0.08973	-1.0696	10	0.52906	T	0.07	.	20.27	0.98469	0.0:1.0:0.0:0.0	.	671;671	Q9UHJ3-2;Q9UHJ3	.;SMBT1_HUMAN	Q	671	ENSP00000378235:R671Q;ENSP00000350789:R671Q;ENSP00000296295:R671Q;ENSP00000378233:R671Q	ENSP00000296295:R671Q	R	-	2	0	SFMBT1	52916684	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.445000	0.80570	2.854000	0.98071	0.655000	0.94253	CGG		0.438	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353040.3	NM_016329		40	21	0	0	0	1	0	40	21				
AHRR	57491	broad.mit.edu	37	5	428001	428001	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:428001G>A	ENST00000505113.1	+	8	844	c.800G>A	c.(799-801)cGg>cAg	p.R267Q	AHRR_ENST00000316418.5_Missense_Mutation_p.R285Q|AHRR_ENST00000512529.1_Missense_Mutation_p.R113Q|AHRR_ENST00000506456.1_Missense_Mutation_p.R123Q	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	267					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)			CTCCCGCCGCGGCTGTCGCTG	0.557																																						ENST00000316418.5																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(853-855)cGg>cAg		aryl-hydrocarbon receptor repressor							25.0	29.0	28.0					5																	428001		1900	4107	6007	SO:0001583	missense	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:428001G>A	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.800G>A	5.37:g.428001G>A	ENSP00000424601:p.Arg267Gln					AHRR_ENST00000506456.1_Missense_Mutation_p.R123Q|AHRR_ENST00000512529.1_Missense_Mutation_p.R113Q|AHRR_ENST00000505113.1_Missense_Mutation_p.R267Q	p.R285Q	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)		9	898	+			267					A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	ENST00000505113.1	37	c.854G>A	CCDS56355.1	.	.	.	.	.	.	.	.	.	.	g	0.062	-1.221648	0.01530	.	.	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456	T;T;T;T	0.17691	2.57;2.59;2.28;2.26	4.88	1.57	0.23409	.	0.179927	0.49916	N	0.000137	T	0.05960	0.0155	N	0.16166	0.38	0.32683	N	0.515252	B;B;B	0.33494	0.414;0.025;0.036	B;B;B	0.25614	0.062;0.009;0.005	T	0.37314	-0.9711	10	0.02654	T	1	.	7.2364	0.26072	0.4199:0.0:0.5801:0.0	.	123;267;285	D6RE68;A9YTQ3;A9YTQ3-2	.;AHRR_HUMAN;.	Q	267;285;113;123	ENSP00000424601:R267Q;ENSP00000323816:R285Q;ENSP00000424880:R113Q;ENSP00000426932:R123Q	ENSP00000323816:R285Q	R	+	2	0	AHRR	481001	1.000000	0.71417	0.026000	0.17262	0.002000	0.02628	2.121000	0.41977	0.467000	0.27218	0.580000	0.79431	CGG		0.557	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		33	27	0	0	0	1	0	33	27				
ERO1LB	56605	broad.mit.edu	37	1	236388426	236388426	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:236388426G>A	ENST00000354619.5	-	13	1267	c.1066C>T	c.(1066-1068)Cac>Tac	p.H356Y		NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	356					4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|glucose homeostasis (GO:0042593)|insulin processing (GO:0030070)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Flavin adenine dinucleotide(DB03147)	TCATCAAAGTGCATGGGAAAG	0.388																																						ENST00000354619.5																			0				NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23						c.(1066-1068)Cac>Tac		ERO1-like beta (S. cerevisiae)							130.0	125.0	127.0					1																	236388426		2203	4300	6503	SO:0001583	missense	56605				electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding	g.chr1:236388426G>A	AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619			14355	protein-coding gene	gene with protein product		615437				10818100	Standard	NM_019891		Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.1066C>T	1.37:g.236388426G>A	ENSP00000346635:p.His356Tyr						p.H356Y	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		13	1267	-	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	356					B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Missense_Mutation	SNP	ENST00000354619.5	37	c.1066C>T	CCDS31064.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.639898	0.87760	.	.	ENSG00000086619	ENST00000354619;ENST00000264181	T;T	0.43294	0.95;0.95	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.66848	0.2831	M	0.87547	2.89	0.80722	D	1	D	0.58970	0.984	P	0.59643	0.861	T	0.67891	-0.5553	10	0.33940	T	0.23	-19.3749	19.3315	0.94291	0.0:0.0:1.0:0.0	.	356	Q86YB8	ERO1B_HUMAN	Y	356;81	ENSP00000346635:H356Y;ENSP00000264181:H81Y	ENSP00000264181:H81Y	H	-	1	0	ERO1LB	234455049	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.613000	0.82986	2.562000	0.86427	0.454000	0.30748	CAC		0.388	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096371.1	NM_019891		26	114	0	0	0	1	0	26	114				
WNT16	51384	broad.mit.edu	37	7	120979211	120979211	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:120979211G>T	ENST00000222462.2	+	4	1200	c.910G>T	c.(910-912)Ggg>Tgg	p.G304W	WNT16_ENST00000361301.2_Missense_Mutation_p.G294W	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	304					bone remodeling (GO:0046849)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|optic cup formation involved in camera-type eye development (GO:0003408)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|replicative senescence (GO:0090399)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					GGGAATCCCAGGGACACAAGG	0.473																																						ENST00000222462.2																			0				breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18						c.(910-912)Ggg>Tgg		wingless-type MMTV integration site family, member 16							112.0	105.0	107.0					7																	120979211		2203	4300	6503	SO:0001583	missense	51384				anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	g.chr7:120979211G>T	AF152584	CCDS5780.1, CCDS5781.1	7q31	2008-07-18			ENSG00000002745	ENSG00000002745		"""Wingless-type MMTV integration sites"""	16267	protein-coding gene	gene with protein product		606267				10500199	Standard	NM_016087		Approved		uc003vjw.3	Q9UBV4	OTTHUMG00000156963	ENST00000222462.2:c.910G>T	7.37:g.120979211G>T	ENSP00000222462:p.Gly304Trp					WNT16_ENST00000361301.2_Missense_Mutation_p.G294W	p.G304W	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN			4	1200	+	all_neural(327;0.117)		304					Q2M3G1|Q9Y5C0	Missense_Mutation	SNP	ENST00000222462.2	37	c.910G>T	CCDS5781.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934268	0.92458	.	.	ENSG00000002745	ENST00000361301;ENST00000222462	D;D	0.85013	-1.93;-1.93	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.95548	0.8553	H	0.97051	3.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96436	0.9323	10	0.87932	D	0	.	20.0762	0.97745	0.0:0.0:1.0:0.0	.	304;294	Q9UBV4;E9PH60	WNT16_HUMAN;.	W	294;304	ENSP00000355065:G294W;ENSP00000222462:G304W	ENSP00000222462:G304W	G	+	1	0	WNT16	120766447	1.000000	0.71417	0.978000	0.43139	0.998000	0.95712	9.869000	0.99810	2.756000	0.94617	0.655000	0.94253	GGG		0.473	WNT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346843.1	NM_057168		4	39	1	0	0.00024832	1	0.000262116	4	39				
KIAA1147	57189	broad.mit.edu	37	7	141364990	141364990	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:141364990C>T	ENST00000536163.1	-	6	948	c.949G>A	c.(949-951)Gcc>Acc	p.A317T	KIAA1147_ENST00000482493.1_Missense_Mutation_p.A213T|RP5-894A10.6_ENST00000602609.1_RNA	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN	KIAA1147	317										breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					TACTCACAGGCCACATAGGAC	0.617																																						ENST00000536163.1																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12						c.(949-951)Gcc>Acc		KIAA1147							70.0	74.0	73.0					7																	141364990		2087	4215	6302	SO:0001583	missense	57189							g.chr7:141364990C>T	AB032973	CCDS47726.1	7q34	2012-10-04			ENSG00000257093	ENSG00000257093			29472	protein-coding gene	gene with protein product							Standard	NM_001080392		Approved	LCHN	uc003vwk.3	A4D1U4	OTTHUMG00000157539	ENST00000536163.1:c.949G>A	7.37:g.141364990C>T	ENSP00000445768:p.Ala317Thr					KIAA1147_ENST00000482493.1_Missense_Mutation_p.A213T	p.A317T	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN			6	948	-	Melanoma(164;0.0171)		317					Q9ULS3	Missense_Mutation	SNP	ENST00000536163.1	37	c.949G>A	CCDS47726.1	.	.	.	.	.	.	.	.	.	.	C	33	5.282231	0.95489	.	.	ENSG00000257093	ENST00000536163;ENST00000482493	.	.	.	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	D	0.84727	0.5536	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.88202	0.2884	9	0.72032	D	0.01	.	17.9145	0.88945	0.0:1.0:0.0:0.0	.	317	A4D1U4	LCHN_HUMAN	T	317;213	.	ENSP00000297761:A317T	A	-	1	0	KIAA1147	141011459	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.938000	0.75904	2.191000	0.70037	0.563000	0.77884	GCC		0.617	KIAA1147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349104.1			20	16	0	0	0	1	0	20	16				
TMEM79	84283	broad.mit.edu	37	1	156261316	156261316	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:156261316C>T	ENST00000405535.2	+	4	1283	c.1112C>T	c.(1111-1113)gCc>gTc	p.A371V	TMEM79_ENST00000295694.5_Missense_Mutation_p.A371V|TMEM79_ENST00000357501.2_Silent_p.C132C|C1orf85_ENST00000482579.1_5'Flank|TMEM79_ENST00000495881.1_3'UTR	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	371					cornification (GO:0070268)|cuticle development (GO:0042335)|epithelial cell maturation (GO:0002070)|establishment of skin barrier (GO:0061436)|hair follicle morphogenesis (GO:0031069)|positive regulation of epidermis development (GO:0045684)|regulated secretory pathway (GO:0045055)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					ATGCTCACTGCCACCGAGAGC	0.672																																						ENST00000405535.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21						c.(1111-1113)gCc>gTc		transmembrane protein 79							95.0	94.0	94.0					1																	156261316		2203	4300	6503	SO:0001583	missense	84283					integral to membrane		g.chr1:156261316C>T	BC005094	CCDS1138.1	1q22	2014-04-22			ENSG00000163472	ENSG00000163472			28196	protein-coding gene	gene with protein product	"""mattrin"""	615531					Standard	NM_032323		Approved	MGC13102, FLJ16057, FLJ32254, MATT	uc009wrw.3	Q9BSE2	OTTHUMG00000019788	ENST00000405535.2:c.1112C>T	1.37:g.156261316C>T	ENSP00000384748:p.Ala371Val					TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000357501.2_Silent_p.C132C|C1orf85_ENST00000472870.1_Intron|TMEM79_ENST00000295694.5_Missense_Mutation_p.A371V	p.A371V	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN			4	1283	+	Hepatocellular(266;0.158)		371					B2RE22|D3DVB8	Missense_Mutation	SNP	ENST00000405535.2	37	c.1112C>T	CCDS1138.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.597168	0.28445	.	.	ENSG00000163472	ENST00000295694;ENST00000405535	T;T	0.47528	0.84;0.84	5.7	5.7	0.88788	.	0.457742	0.24381	N	0.039005	T	0.17874	0.0429	N	0.19112	0.55	0.40796	D	0.983294	P	0.40332	0.713	B	0.36464	0.225	T	0.04203	-1.0969	10	0.31617	T	0.26	-15.2879	10.8257	0.46631	0.0:0.9141:0.0:0.0859	.	371	Q9BSE2	TMM79_HUMAN	V	371	ENSP00000295694:A371V;ENSP00000384748:A371V	ENSP00000295694:A371V	A	+	2	0	TMEM79	154527940	.	.	0.289000	0.24876	0.026000	0.11368	.	.	2.687000	0.91594	0.655000	0.94253	GCC		0.672	TMEM79-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052101.1	NM_032323		12	153	0	0	0	1	0	12	153				
RIPK2	8767	broad.mit.edu	37	8	90796344	90796344	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:90796344C>T	ENST00000220751.4	+	8	1320	c.1006C>T	c.(1006-1008)Cct>Tct	p.P336S	RIPK2_ENST00000540020.1_Missense_Mutation_p.P199S	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	336					activation of MAPK activity (GO:0000187)|adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immature T cell proliferation (GO:0033091)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|response to exogenous dsRNA (GO:0043330)|response to interleukin-1 (GO:0070555)|response to interleukin-12 (GO:0070671)|response to interleukin-18 (GO:0070673)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|LIM domain binding (GO:0030274)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			TCTGAACATACCTGTAAATCA	0.269																																						ENST00000220751.4																			0				kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10						c.(1006-1008)Cct>Tct		receptor-interacting serine-threonine kinase 2							61.0	62.0	62.0					8																	90796344		2203	4293	6496	SO:0001583	missense	8767				activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity	g.chr8:90796344C>T	AC004003	CCDS6247.1	8q21	2008-05-02			ENSG00000104312	ENSG00000104312			10020	protein-coding gene	gene with protein product		603455				9575181, 9705938	Standard	XM_005251092		Approved	RICK, RIP2, CARDIAK, CARD3	uc003yee.3	O43353	OTTHUMG00000163809	ENST00000220751.4:c.1006C>T	8.37:g.90796344C>T	ENSP00000220751:p.Pro336Ser					RIPK2_ENST00000540020.1_Missense_Mutation_p.P199S	p.P336S	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0474)		8	1320	+			336					B7Z748|Q6UWF0	Missense_Mutation	SNP	ENST00000220751.4	37	c.1006C>T	CCDS6247.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.937602	0.34189	.	.	ENSG00000104312	ENST00000220751;ENST00000540020	T;T	0.80909	-1.2;-1.43	5.58	0.459	0.16678	.	0.344631	0.21116	N	0.079888	T	0.65386	0.2686	L	0.32530	0.975	0.37160	D	0.902535	B	0.10296	0.003	B	0.06405	0.002	T	0.52419	-0.8578	10	0.36615	T	0.2	-2.1174	5.2207	0.15368	0.0:0.535:0.1375:0.3276	.	336	O43353	RIPK2_HUMAN	S	336;199	ENSP00000220751:P336S;ENSP00000441623:P199S	ENSP00000220751:P336S	P	+	1	0	RIPK2	90865485	0.004000	0.15560	0.100000	0.21137	0.948000	0.59901	-0.390000	0.07332	-0.133000	0.11537	0.655000	0.94253	CCT		0.269	RIPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375686.1			17	88	0	0	0	1	0	17	88				
CEL	1056	broad.mit.edu	37	9	135946437	135946437	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:135946437C>T	ENST00000372080.4	+	11	1573	c.1557C>T	c.(1555-1557)agC>agT	p.S519S	CEL_ENST00000351304.7_Silent_p.S450S	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	516					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CGGAAAACAGCGGCTACCTGG	0.607																																						ENST00000372080.4																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20						c.(1555-1557)agC>agT		carboxyl ester lipase							31.0	41.0	38.0					9																	135946437		1998	4172	6170	SO:0001819	synonymous_variant	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135946437C>T	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"""bile salt-stimulated lipase"""	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.1557C>T	9.37:g.135946437C>T						CEL_ENST00000351304.7_Silent_p.S450S	p.S519S	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	11	1573	+			516					Q16398|Q5T7U7|Q9UCH1|Q9UP41	Silent	SNP	ENST00000372080.4	37	c.1557C>T	CCDS43896.1																																																																																				0.607	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1			9	21	0	0	0	1	0	9	21				
DIDO1	11083	broad.mit.edu	37	20	61526189	61526189	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:61526189C>T	ENST00000266070.4	-	10	2734	c.2409G>A	c.(2407-2409)gaG>gaA	p.E803E	DIDO1_ENST00000395340.1_Silent_p.E803E|DIDO1_ENST00000395343.1_Silent_p.E803E|DIDO1_ENST00000395335.2_Silent_p.E803E	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	803					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCGGAGAGTCCTCCAGATCGG	0.468																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(2407-2409)gaG>gaA		death inducer-obliterator 1							66.0	73.0	71.0					20																	61526189		2203	4300	6503	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61526189C>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.2409G>A	20.37:g.61526189C>T						DIDO1_ENST00000395340.1_Silent_p.E803E|DIDO1_ENST00000395343.1_Silent_p.E803E|DIDO1_ENST00000395335.2_Silent_p.E803E	p.E803E	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			10	2734	-	Breast(26;5.68e-08)		803					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.2409G>A	CCDS33506.1																																																																																				0.468	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		32	145	0	0	0	1	0	32	145				
C2orf88	84281	broad.mit.edu	37	2	191064837	191064837	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:191064837A>G	ENST00000340623.4	+	2	662	c.251A>G	c.(250-252)tAc>tGc	p.Y84C	C2orf88_ENST00000409870.1_Missense_Mutation_p.Y84C|C2orf88_ENST00000396974.2_Missense_Mutation_p.Y84C|C2orf88_ENST00000443551.2_Missense_Mutation_p.Y84C	NM_001042519.1|NM_001042520.1|NM_001042521.1|NM_032321.2	NP_001035984.1|NP_001035985.1|NP_001035986.1|NP_115697.2	Q9BSF0	SMAKA_HUMAN	chromosome 2 open reading frame 88	84						plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(1)	3						AACATCAAGTACCATGACATT	0.458																																						ENST00000340623.4																			0				kidney(1)|large_intestine(1)|lung(1)	3						c.(250-252)tAc>tGc		chromosome 2 open reading frame 88							165.0	164.0	164.0					2																	191064837		2039	4196	6235	SO:0001583	missense	84281							g.chr2:191064837A>G	BC005083	CCDS42792.1	2q32.2	2014-02-12	2009-04-08		ENSG00000187699	ENSG00000187699			28191	protein-coding gene	gene with protein product	"""small membrane AKAP"""	615117				23996002	Standard	NM_032321		Approved	MGC13057, smAKAP	uc002urt.3	Q9BSF0	OTTHUMG00000154361	ENST00000340623.4:c.251A>G	2.37:g.191064837A>G	ENSP00000345107:p.Tyr84Cys					C2orf88_ENST00000443551.2_Missense_Mutation_p.Y84C|C2orf88_ENST00000396974.2_Missense_Mutation_p.Y84C|C2orf88_ENST00000409870.1_Missense_Mutation_p.Y84C	p.Y84C	NM_001042519.1|NM_001042520.1|NM_001042521.1|NM_032321.2	NP_001035984.1|NP_001035985.1|NP_001035986.1|NP_115697.2	Q9BSF0	CB088_HUMAN			2	662	+			84					D3DPI3|P0C876|Q53TC7	Missense_Mutation	SNP	ENST00000340623.4	37	c.251A>G	CCDS42792.1	.	.	.	.	.	.	.	.	.	.	A	14.07	2.424577	0.43020	.	.	ENSG00000187699	ENST00000396974;ENST00000409870;ENST00000340623;ENST00000443551	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.45	5.45	0.79879	.	0.000000	0.49305	U	0.000156	T	0.76905	0.4053	.	.	.	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	T	0.78011	-0.2371	8	.	.	.	-16.73	13.5297	0.61615	1.0:0.0:0.0:0.0	.	84	Q9BSF0	CB088_HUMAN	C	84	ENSP00000380172:Y84C;ENSP00000386649:Y84C;ENSP00000345107:Y84C;ENSP00000405225:Y84C	.	Y	+	2	0	C2orf88	190773082	1.000000	0.71417	0.962000	0.40283	0.007000	0.05969	6.013000	0.70776	2.288000	0.76882	0.528000	0.53228	TAC		0.458	C2orf88-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334954.1	NM_032321		35	129	0	0	0	1	0	35	129				
IGHV1-18	28468	broad.mit.edu	37	14	106641800	106641800	+	RNA	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:106641800C>A	ENST00000390605.2	-	0	172									immunoglobulin heavy variable 1-18																		TGCAGGAGACCTTCACTGAGG	0.587																																						ENST00000390605.2																			0																				131.0	120.0	123.0					14																	106641800		1912	4131	6043			28468							g.chr14:106641800C>A	M99641		14q32.33	2012-02-08			ENSG00000211945	ENSG00000211945		"""Immunoglobulins / IGH locus"""	5549	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152276		14.37:g.106641800C>A														0	172	-									RNA	SNP	ENST00000390605.2	37																																																																																						0.587	IGHV1-18-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325664.1	NG_001019		6	267	1	0	0.00198382	1	0.0020597	6	267				
FASTKD3	79072	broad.mit.edu	37	5	7867655	7867655	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:7867655G>A	ENST00000264669.5	-	2	678	c.542C>T	c.(541-543)gCt>gTt	p.A181V	FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000502509.1_Intron|MTRR_ENST00000341013.6_5'Flank|MTRR_ENST00000264668.2_5'Flank	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	181					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AGCTTGCAAAGCAGTCACTAA	0.448																																						ENST00000264669.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(541-543)gCt>gTt		FAST kinase domains 3							77.0	76.0	76.0					5																	7867655		2203	4300	6503	SO:0001583	missense	79072				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr5:7867655G>A	AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.542C>T	5.37:g.7867655G>A	ENSP00000264669:p.Ala181Val					MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	p.A181V	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN			2	678	-			181					Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	37	c.542C>T	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836713	0.50951	.	.	ENSG00000124279	ENST00000264669;ENST00000504695;ENST00000507572	T;T;T	0.28454	1.61;1.61;1.61	4.96	3.16	0.36331	.	0.106745	0.64402	N	0.000005	T	0.27278	0.0669	M	0.63428	1.95	0.58432	D	0.999998	P	0.38617	0.64	B	0.33121	0.158	T	0.03887	-1.0995	10	0.31617	T	0.26	-9.9578	11.2498	0.49020	0.1488:0.0:0.8512:0.0	.	181	Q14CZ7	FAKD3_HUMAN	V	181;181;164	ENSP00000264669:A181V;ENSP00000426008:A181V;ENSP00000422443:A164V	ENSP00000264669:A181V	A	-	2	0	FASTKD3	7920655	0.998000	0.40836	0.042000	0.18584	0.795000	0.44927	3.795000	0.55499	0.663000	0.31027	0.650000	0.86243	GCT		0.448	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		19	162	0	0	0	1	0	19	162				
ERCC6	2074	broad.mit.edu	37	10	50732641	50732641	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:50732641C>T	ENST00000355832.5	-	5	913	c.835G>A	c.(835-837)Gca>Aca	p.A279T	ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.A279T|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.A279T|PGBD3_ENST00000603152.1_Missense_Mutation_p.A279T|PGBD3_ENST00000374127.3_5'Flank	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	279					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GACAGTTTTGCTTGATCTGCC	0.433								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000355832.5																			0				breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(835-837)Gca>Aca	Direct reversal of damage;Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 6							186.0	180.0	182.0					10																	50732641		2203	4300	6503	SO:0001583	missense	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50732641C>T	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.835G>A	10.37:g.50732641C>T	ENSP00000348089:p.Ala279Thr					ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.A279T|PGBD3_ENST00000603152.1_Missense_Mutation_p.A279T|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.A279T	p.A279T	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN			5	913	-			279					D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	c.835G>A	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	C	36	5.608875	0.96637	.	.	ENSG00000225830;ENSG00000258838;ENSG00000258838	ENST00000355832;ENST00000515869;ENST00000447839	D;T;T	0.83837	-1.77;3.06;3.06	6.03	6.03	0.97812	.	.	.	.	.	D	0.89774	0.6812	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.72075	0.976;0.859	D	0.85367	0.1111	9	0.14656	T	0.56	-17.8437	18.7472	0.91797	0.0:1.0:0.0:0.0	.	279;279	E7EV46;Q03468	.;ERCC6_HUMAN	T	279	ENSP00000348089:A279T;ENSP00000423550:A279T;ENSP00000387966:A279T	ENSP00000348089:A279T	A	-	1	0	ERCC6;RP11-123B3.6	50402647	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.461000	0.80834	2.854000	0.98071	0.655000	0.94253	GCA		0.433	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		27	99	0	0	0	1	0	27	99				
CSMD2	114784	broad.mit.edu	37	1	34312590	34312590	+	Missense_Mutation	SNP	C	C	T	rs369990781		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:34312590C>T	ENST00000373381.4	-	6	1104	c.928G>A	c.(928-930)Gga>Aga	p.G310R		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGGCTGGCTCCGGTGAACCTG	0.582																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(928-930)Gga>Aga		CUB and Sushi multiple domains 2		C	ARG/GLY	0,4406		0,0,2203	49.0	46.0	47.0		808	4.8	1.0	1		47	1,8599	1.2+/-3.3	0,1,4299	no	missense	CSMD2	NM_052896.3	125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	270/3488	34312590	1,13005	2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34312590C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.928G>A	1.37:g.34312590C>T	ENSP00000362479:p.Gly310Arg						p.G310R	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			6	1104	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	270					B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.928G>A		.	.	.	.	.	.	.	.	.	.	C	26.5	4.748377	0.89663	0.0	1.16E-4	ENSG00000121904	ENST00000373381	T	0.65178	-0.14	4.82	4.82	0.62117	CUB (5);	0.000000	0.85682	D	0.000000	D	0.84942	0.5584	H	0.95574	3.69	0.80722	D	1	P;D	0.89917	0.706;1.0	B;D	0.85130	0.229;0.997	D	0.89622	0.3849	10	0.87932	D	0	.	15.733	0.77819	0.0:1.0:0.0:0.0	.	270;310	Q7Z408;E7EUA6	CSMD2_HUMAN;.	R	310	ENSP00000362479:G310R	ENSP00000241312:G270R	G	-	1	0	CSMD2	34085177	1.000000	0.71417	0.968000	0.41197	0.977000	0.68977	7.360000	0.79487	2.378000	0.81104	0.561000	0.74099	GGA		0.582	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		4	20	0	0	0	1	0	4	20				
HECTD3	79654	broad.mit.edu	37	1	45474374	45474374	+	Splice_Site	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:45474374C>A	ENST00000372172.4	-	8	1144		c.e8-1		HECTD3_ENST00000372168.3_5'Flank	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3						proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					ATCCCATCATCTGGGGGAAGG	0.552																																						ENST00000372172.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28						c.e8-1		HECT domain containing E3 ubiquitin protein ligase 3							126.0	117.0	120.0					1																	45474374		2050	4207	6257	SO:0001630	splice_region_variant	79654				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity	g.chr1:45474374C>A	BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"""HECT domain containing 3"""			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.1073-1G>T	1.37:g.45474374C>A								NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN			8	1144	-	Acute lymphoblastic leukemia(166;0.155)							B3KPV7|B3KRH4|Q5T448|Q9H783	Splice_Site	SNP	ENST00000372172.4	37		CCDS41318.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.402841	0.62288	.	.	ENSG00000126107	ENST00000372172	.	.	.	4.25	4.25	0.50352	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.243	0.87019	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HECTD3	45246961	1.000000	0.71417	0.999000	0.59377	0.775000	0.43874	7.122000	0.77169	2.357000	0.79964	0.655000	0.94253	.		0.552	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023734.1	NM_024602	Intron	57	121	1	0	4.96213e-28	1	6.13539e-28	57	121				
DCST1	149095	broad.mit.edu	37	1	155023188	155023188	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:155023188C>T	ENST00000295542.1	+	17	2061	c.1965C>T	c.(1963-1965)ccC>ccT	p.P655P	ADAM15_ENST00000360674.4_5'Flank|ADAM15_ENST00000447332.3_5'Flank|ADAM15_ENST00000271836.6_5'Flank|ADAM15_ENST00000531455.1_5'Flank|ADAM15_ENST00000356955.2_5'Flank|ADAM15_ENST00000368412.3_5'Flank|ADAM15_ENST00000355956.2_5'Flank|DCST1_ENST00000423025.2_Silent_p.P630P|ADAM15_ENST00000368410.2_5'Flank|ADAM15_ENST00000368413.1_5'Flank|ADAM15_ENST00000449910.2_5'Flank|ADAM15_ENST00000359280.4_5'Flank	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	655						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCGAGACGCCCGAGTCCTACG	0.726											OREG0013846	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000295542.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27						c.(1963-1965)ccC>ccT		DC-STAMP domain containing 1							19.0	21.0	20.0					1																	155023188		2196	4297	6493	SO:0001819	synonymous_variant	149095					integral to membrane	zinc ion binding	g.chr1:155023188C>T	AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.1965C>T	1.37:g.155023188C>T			OREG0013846	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1767	DCST1_ENST00000423025.2_Silent_p.P630P	p.P655P	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		17	2061	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		655					B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Silent	SNP	ENST00000295542.1	37	c.1965C>T	CCDS1083.1																																																																																				0.726	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1	NM_152494		6	18	0	0	0	1	0	6	18				
CPN2	1370	broad.mit.edu	37	3	194062486	194062486	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:194062486G>A	ENST00000323830.3	-	2	1035	c.946C>T	c.(946-948)Cgt>Tgt	p.R316C	CPN2_ENST00000429275.1_Missense_Mutation_p.R316C	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	316					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		ATGAGGGAACGCAGGTTGGAC	0.582																																						ENST00000323830.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27						c.(946-948)Cgt>Tgt		carboxypeptidase N, polypeptide 2							51.0	45.0	47.0					3																	194062486		2203	4300	6503	SO:0001583	missense	1370				protein stabilization	extracellular region	enzyme regulator activity	g.chr3:194062486G>A	J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"""carboxypeptidase N, polypeptide 2, 83kD"""	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.946C>T	3.37:g.194062486G>A	ENSP00000319464:p.Arg316Cys					CPN2_ENST00000429275.1_Missense_Mutation_p.R316C	p.R316C	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)	2	1035	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		316					B2RPE7|Q86SU4|Q8N5V4	Missense_Mutation	SNP	ENST00000323830.3	37	c.946C>T	CCDS33920.1	.	.	.	.	.	.	.	.	.	.	G	8.330	0.826372	0.16749	.	.	ENSG00000178772	ENST00000323830;ENST00000429275	T;T	0.58940	0.3;0.3	5.29	-3.46	0.04767	.	2.246270	0.02353	N	0.076101	T	0.63651	0.2529	M	0.87038	2.855	0.09310	N	1	D	0.57571	0.98	P	0.44394	0.448	T	0.63116	-0.6709	10	0.56958	D	0.05	.	7.3957	0.26936	0.0:0.3492:0.3308:0.32	.	316	P22792	CPN2_HUMAN	C	316	ENSP00000319464:R316C;ENSP00000402232:R316C	ENSP00000319464:R316C	R	-	1	0	CPN2	195544181	0.000000	0.05858	0.000000	0.03702	0.372000	0.29890	-1.871000	0.01640	-0.783000	0.04534	-0.266000	0.10368	CGT		0.582	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2	NM_001080513		9	28	0	0	0	1	0	9	28				
KYNU	8942	broad.mit.edu	37	2	143718206	143718206	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:143718206T>C	ENST00000264170.4	+	8	854	c.596T>C	c.(595-597)tTa>tCa	p.L199S	KYNU_ENST00000375773.2_Missense_Mutation_p.L199S|KYNU_ENST00000409512.1_Missense_Mutation_p.L199S	NM_003937.2	NP_003928.1			kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		GAAGAAACCTTAAGAATAGAG	0.378																																						ENST00000264170.4																			0				large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36						c.(595-597)tTa>tCa		kynureninase	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)						93.0	94.0	94.0					2																	143718206		2203	4300	6503	SO:0001583	missense	8942				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	g.chr2:143718206T>C	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.596T>C	2.37:g.143718206T>C	ENSP00000264170:p.Leu199Ser					KYNU_ENST00000409512.1_Missense_Mutation_p.L199S|KYNU_ENST00000375773.2_Missense_Mutation_p.L199S	p.L199S	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.072)	8	854	+			199						Missense_Mutation	SNP	ENST00000264170.4	37	c.596T>C	CCDS2183.1	.	.	.	.	.	.	.	.	.	.	T	19.20	3.781334	0.70222	.	.	ENSG00000115919	ENST00000264170;ENST00000375773;ENST00000409512	D;D;D	0.89196	-2.48;-2.48;-2.48	5.35	2.87	0.33458	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.265265	0.33075	N	0.005301	D	0.95053	0.8398	M	0.92784	3.345	0.80722	D	1	P;D	0.59767	0.93;0.986	P;D	0.73708	0.873;0.981	D	0.94741	0.7919	10	0.87932	D	0	.	12.1756	0.54184	0.0:0.0:0.2683:0.7317	.	199;199	Q16719;Q9BVW3	KYNU_HUMAN;.	S	199	ENSP00000264170:L199S;ENSP00000364928:L199S;ENSP00000386731:L199S	ENSP00000264170:L199S	L	+	2	0	KYNU	143434676	1.000000	0.71417	0.553000	0.28255	0.969000	0.65631	5.904000	0.69886	0.391000	0.25143	0.524000	0.50904	TTA		0.378	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998		23	61	0	0	0	1	0	23	61				
ELAVL2	1993	broad.mit.edu	37	9	23762147	23762147	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:23762147A>G	ENST00000397312.2	-	2	360	c.86T>C	c.(85-87)gTt>gCt	p.V29A	ELAVL2_ENST00000462649.1_5'Flank|ELAVL2_ENST00000223951.6_Missense_Mutation_p.V29A|ELAVL2_ENST00000380117.1_Missense_Mutation_p.V29A|ELAVL2_ENST00000380110.4_Missense_Mutation_p.V58A|ELAVL2_ENST00000544538.1_Missense_Mutation_p.V29A	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	29					regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CCCAGAGTCAACTGGTGACGA	0.448																																						ENST00000397312.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(85-87)gTt>gCt		ELAV like neuron-specific RNA binding protein 2							344.0	313.0	324.0					9																	23762147		2203	4300	6503	SO:0001583	missense	1993				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr9:23762147A>G	BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.86T>C	9.37:g.23762147A>G	ENSP00000380479:p.Val29Ala					ELAVL2_ENST00000380110.4_Missense_Mutation_p.V58A|ELAVL2_ENST00000380117.1_Missense_Mutation_p.V29A|ELAVL2_ENST00000223951.6_Missense_Mutation_p.V29A|ELAVL2_ENST00000544538.1_Missense_Mutation_p.V29A	p.V29A	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN		GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)	2	360	-			29					D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	ENST00000397312.2	37	c.86T>C	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	A	7.859	0.725563	0.15439	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598;ENST00000440102	T;T;T;T;T	0.73789	2.56;-0.78;-0.78;-0.78;2.89	5.92	5.92	0.95590	.	0.063200	0.64402	D	0.000006	T	0.56717	0.2004	N	0.08118	0	0.58432	D	0.999999	B;B	0.15719	0.0;0.014	B;B	0.22386	0.003;0.039	T	0.54309	-0.8313	10	0.14656	T	0.56	.	16.371	0.83361	1.0:0.0:0.0:0.0	.	29;29	Q12926;Q12926-2	ELAV2_HUMAN;.	A	29;29;29;29;29;57;29	ENSP00000223951:V29A;ENSP00000380479:V29A;ENSP00000440998:V29A;ENSP00000369460:V29A;ENSP00000412602:V29A	ENSP00000223951:V29A	V	-	2	0	ELAVL2	23752147	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.194000	0.94962	2.267000	0.75376	0.477000	0.44152	GTT		0.448	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432		22	167	0	0	0	1	0	22	167				
SGPP2	130367	broad.mit.edu	37	2	223423242	223423242	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:223423242G>A	ENST00000321276.7	+	5	911	c.825G>A	c.(823-825)gcG>gcA	p.A275A		NM_152386.2	NP_689599.2	Q8IWX5	SGPP2_HUMAN	sphingosine-1-phosphate phosphatase 2	275					dephosphorylation (GO:0016311)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		CAACCCGGGCGGACACCACCA	0.547																																						ENST00000321276.7																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18						c.(823-825)gcG>gcA		sphingosine-1-phosphate phosphatase 2							110.0	112.0	111.0					2																	223423242		2203	4300	6503	SO:0001819	synonymous_variant	130367				sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr2:223423242G>A	AF542512	CCDS2453.1	2q36.3	2010-05-26	2010-05-26		ENSG00000163082	ENSG00000163082			19953	protein-coding gene	gene with protein product		612827				12411432	Standard	NM_152386		Approved	SPP2, FLJ39004	uc010zlo.2	Q8IWX5	OTTHUMG00000133156	ENST00000321276.7:c.825G>A	2.37:g.223423242G>A							p.A275A	NM_152386.2	NP_689599.2	Q8IWX5	SGPP2_HUMAN		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)	5	911	+		Renal(207;0.0376)	275					A3KPB4|Q8N8Q6	Silent	SNP	ENST00000321276.7	37	c.825G>A	CCDS2453.1																																																																																				0.547	SGPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256856.2			65	100	0	0	0	1	0	65	100				
USP4	7375	broad.mit.edu	37	3	49336023	49336023	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:49336023C>T	ENST00000265560.4	-	12	1604	c.1558G>A	c.(1558-1560)Gag>Aag	p.E520K	USP4_ENST00000351842.4_Missense_Mutation_p.E473K|USP4_ENST00000488520.1_5'Flank	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	520	USP.|Ubiquitin-like 2.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GAGAGAGCCTCGCACAGGTCG	0.547																																						ENST00000351842.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(1417-1419)Gag>Aag		ubiquitin specific peptidase 4 (proto-oncogene)							176.0	162.0	167.0					3																	49336023		2203	4300	6503	SO:0001583	missense	7375				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:49336023C>T	U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.1558G>A	3.37:g.49336023C>T	ENSP00000265560:p.Glu520Lys					USP4_ENST00000265560.4_Missense_Mutation_p.E520K	p.E473K	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)	11	1425	-		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)	520					A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Missense_Mutation	SNP	ENST00000265560.4	37	c.1417G>A	CCDS2793.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.76|10.76	1.442130|1.442130	0.25987|0.25987	.|.	.|.	ENSG00000114316|ENSG00000114316	ENST00000351842;ENST00000265560|ENST00000431357	T;T|.	0.21031|.	2.03;2.15|.	6.04|6.04	5.17|5.17	0.71159|0.71159	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);|.	0.709279|.	0.15270|.	N|.	0.271305|.	T|T	0.45458|0.45458	0.1343|0.1343	L|L	0.28694|0.28694	0.88|0.88	0.53688|0.53688	D|D	0.999973|0.999973	B;B;B|.	0.27765|.	0.014;0.004;0.188|.	B;B;B|.	0.26202|.	0.01;0.017;0.067|.	T|T	0.24368|0.24368	-1.0162|-1.0162	10|5	0.08837|.	T|.	0.75|.	-22.026|-22.026	8.5245|8.5245	0.33296|0.33296	0.1542:0.769:0.0:0.0768|0.1542:0.769:0.0:0.0768	.|.	473;520;520|.	Q13107-2;Q13107;Q08AK7|.	.;UBP4_HUMAN;.|.	K|Q	473;520|258	ENSP00000341028:E473K;ENSP00000265560:E520K|.	ENSP00000265560:E520K|.	E|R	-|-	1|2	0|0	USP4|USP4	49311027|49311027	0.640000|0.640000	0.27243|0.27243	0.998000|0.998000	0.56505|0.56505	0.997000|0.997000	0.91878|0.91878	1.909000|1.909000	0.39917|0.39917	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	GAG|CGA		0.547	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443		83	35	0	0	0	1	0	83	35				
PDE1A	5136	broad.mit.edu	37	2	183070678	183070678	+	Silent	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:183070678T>C	ENST00000410103.1	-	9	1022	c.939A>G	c.(937-939)aaA>aaG	p.K313K	PDE1A_ENST00000358139.2_Silent_p.K313K|PDE1A_ENST00000351439.5_Silent_p.K297K|PDE1A_ENST00000409365.1_Silent_p.K297K|PDE1A_ENST00000456212.1_Silent_p.K313K|PDE1A_ENST00000536095.1_Silent_p.K209K|PDE1A_ENST00000435564.1_Silent_p.K313K|PDE1A_ENST00000331935.6_Silent_p.K313K|PDE1A_ENST00000346717.4_Silent_p.K279K	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	313	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TCCAGTCATCTTTGGATAAAT	0.338																																						ENST00000435564.1																			0				endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35						c.(937-939)aaA>aaG		phosphodiesterase 1A, calmodulin-dependent							61.0	60.0	60.0					2																	183070678		2203	4300	6503	SO:0001819	synonymous_variant	5136				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr2:183070678T>C		CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.939A>G	2.37:g.183070678T>C						PDE1A_ENST00000358139.2_Silent_p.K313K|PDE1A_ENST00000456212.1_Silent_p.K313K|PDE1A_ENST00000410103.1_Silent_p.K313K|PDE1A_ENST00000351439.5_Silent_p.K297K|PDE1A_ENST00000331935.6_Silent_p.K313K|PDE1A_ENST00000409365.1_Silent_p.K297K|PDE1A_ENST00000346717.4_Silent_p.K279K|PDE1A_ENST00000536095.1_Silent_p.K209K	p.K313K	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.061)		8	1139	-			313			Catalytic (By similarity).		D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Silent	SNP	ENST00000410103.1	37	c.939A>G	CCDS33344.1																																																																																				0.338	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1			25	39	0	0	0	1	0	25	39				
RPL8	6132	broad.mit.edu	37	8	146015766	146015766	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:146015766G>A	ENST00000262584.3	-	5	821	c.589C>T	c.(589-591)Cca>Tca	p.P197S	RPL8_ENST00000529163.1_5'UTR|RPL8_ENST00000528957.1_Missense_Mutation_p.P197S|RPL8_ENST00000527914.1_Missense_Mutation_p.P88S|RPL8_ENST00000394920.2_Missense_Mutation_p.P197S	NM_000973.3	NP_000964.1	P62917	RL8_HUMAN	ribosomal protein L8	197					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			kidney(12)|lung(7)|prostate(1)	20	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)		CGTACTCGTGGCCAGCAGTTC	0.537																																						ENST00000262584.3																			0				kidney(12)|lung(7)|prostate(1)	20						c.(589-591)Cca>Tca		ribosomal protein L8							137.0	113.0	121.0					8																	146015766		2203	4300	6503	SO:0001583	missense	6132				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	rRNA binding|structural constituent of ribosome	g.chr8:146015766G>A	Z28407	CCDS6433.1	8q24.3	2011-04-06			ENSG00000161016	ENSG00000161016		"""L ribosomal proteins"""	10368	protein-coding gene	gene with protein product		604177				7506540, 9582194	Standard	NM_033301		Approved	L8	uc003zec.3	P62917	OTTHUMG00000165249	ENST00000262584.3:c.589C>T	8.37:g.146015766G>A	ENSP00000262584:p.Pro197Ser					RPL8_ENST00000528957.1_Missense_Mutation_p.P197S|RPL8_ENST00000394920.2_Missense_Mutation_p.P197S|RPL8_ENST00000527914.1_Missense_Mutation_p.P88S|RPL8_ENST00000529163.1_5'UTR	p.P197S	NM_000973.3	NP_000964.1	P62917	RL8_HUMAN	Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)	5	821	-	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		197					A8K094|D3DWN2|P25120|Q567Q7|Q969V7|Q9BWQ9	Missense_Mutation	SNP	ENST00000262584.3	37	c.589C>T	CCDS6433.1	.	.	.	.	.	.	.	.	.	.	G	32	5.125950	0.94429	.	.	ENSG00000161016	ENST00000394920;ENST00000527914;ENST00000262584;ENST00000528957;ENST00000534813;ENST00000533397;ENST00000532702	T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41	5.08	5.08	0.68730	Translation protein SH3-like (1);Ribosomal protein L2, domain 3 (1);Ribosomal protein L2, conserved site (1);Ribosomal protein L2, C-terminal (1);	0.102077	0.64402	D	0.000001	T	0.81178	0.4768	H	0.97103	3.94	0.80722	D	1	P;D	0.65815	0.847;0.995	P;D	0.67231	0.817;0.95	D	0.87626	0.2513	10	0.87932	D	0	-9.1313	16.4164	0.83743	0.0:0.0:1.0:0.0	.	197;161	P62917;E9PIZ3	RL8_HUMAN;.	S	197;88;197;197;161;176;197	ENSP00000378378:P197S;ENSP00000436460:P88S;ENSP00000262584:P197S;ENSP00000433464:P197S;ENSP00000435313:P176S;ENSP00000434535:P197S	ENSP00000262584:P197S	P	-	1	0	RPL8	145986570	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.414000	0.90238	2.553000	0.86117	0.460000	0.39030	CCA		0.537	RPL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382948.1	NM_000973		8	120	0	0	0	1	0	8	120				
KRT6B	3854	broad.mit.edu	37	12	52845356	52845356	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:52845356G>A	ENST00000252252.3	-	1	554	c.507C>T	c.(505-507)acC>acT	p.T169T		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	169	Coil 1A.|Rod.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TGTTGTTGAGGGTCTTGATCT	0.582																																						ENST00000252252.3																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40						c.(505-507)acC>acT		keratin 6B							56.0	74.0	68.0					12																	52845356		2202	4278	6480	SO:0001819	synonymous_variant	3854				ectoderm development	keratin filament	structural constituent of cytoskeleton	g.chr12:52845356G>A	BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6444	protein-coding gene	gene with protein product		148042	"""keratin-like 1 (a type II keratin sequence)"""	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.507C>T	12.37:g.52845356G>A							p.T169T	NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.083)	1	554	-			169			Coil 1A.|Rod.		P48669	Silent	SNP	ENST00000252252.3	37	c.507C>T	CCDS8828.1																																																																																				0.582	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555		23	197	0	0	0	1	0	23	197				
SERF2	10169	broad.mit.edu	37	15	44085881	44085881	+	Intron	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:44085881C>A	ENST00000381359.1	+	5	1045				MIR1282_ENST00000408865.1_RNA|SERF2_ENST00000403425.1_Intron|SERF2_ENST00000409960.2_Missense_Mutation_p.P75H|SERF2_ENST00000409291.1_Intron|SERF2_ENST00000249786.4_Intron|HYPK_ENST00000406925.1_5'Flank|SERF2_ENST00000594896.1_Intron|SERF2_ENST00000402131.1_Intron|RP11-296A16.1_ENST00000417761.2_Intron|SERF2_ENST00000339624.5_Intron|SERF2_ENST00000409646.1_Intron|SERF2_ENST00000409614.1_Intron	NM_001199877.1	NP_001186806.1	P84101	SERF2_HUMAN	small EDRK-rich factor 2							cytosol (GO:0005829)|nucleus (GO:0005634)		p.P75H(1)		lung(1)	1		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		CTGGTACCTCCCAGTGCCCCA	0.522																																						ENST00000409960.2																			1	Substitution - Missense(1)	p.P75H(1)	lung(1)	lung(1)	1						c.(223-225)cCc>cAc		small EDRK-rich factor 2							172.0	158.0	163.0					15																	44085881		2198	4298	6496	SO:0001627	intron_variant	10169					cytosol|nucleus		g.chr15:44085881C>A	AF073298	CCDS32218.1, CCDS55963.1, CCDS55964.1, CCDS55965.1	15q15.1	2008-01-18			ENSG00000140264	ENSG00000140264			10757	protein-coding gene	gene with protein product		605054				9731538	Standard	NM_001199876		Approved	H4F5rel, 4F5REL, FAM2C, HsT17089	uc010bdq.3	P84101	OTTHUMG00000059935	ENST00000381359.1:c.117-27C>A	15.37:g.44085881C>A						RP11-296A16.1_ENST00000417761.2_Intron|SERF2_ENST00000409614.1_Intron|SERF2_ENST00000409646.1_Intron|SERF2_ENST00000409291.1_Intron|SERF2_ENST00000403425.1_Intron|SERF2_ENST00000339624.5_Intron|SERF2_ENST00000402131.1_Intron|SERF2_ENST00000594896.1_Intron|SERF2_ENST00000381359.1_Intron|MIR1282_ENST00000408865.1_RNA|SERF2_ENST00000249786.4_Intron	p.P75H	NM_001199875.1	NP_001186804.1	P84101	SERF2_HUMAN		GBM - Glioblastoma multiforme(94;7.81e-07)	3	271	+		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	0					A6NL45|B5MCG1|B9A026|O75918|O88891|Q9BZH7	Missense_Mutation	SNP	ENST00000381359.1	37	c.224C>A	CCDS32218.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.622890	0.46840	.	.	ENSG00000140264	ENST00000409960	T	0.53206	0.63	6.07	6.07	0.98685	.	.	.	.	.	T	0.46889	0.1416	N	0.08118	0	0.80722	D	1	D	0.67145	0.996	P	0.60012	0.867	T	0.55611	-0.8114	9	0.87932	D	0	.	16.144	0.81551	0.0:1.0:0.0:0.0	.	75	B9A026	.	H	75	ENSP00000387187:P75H	ENSP00000387187:P75H	P	+	2	0	SERF2	41873173	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.057000	0.41365	2.884000	0.98904	0.655000	0.94253	CCC		0.522	SERF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133233.2	NM_005770		26	57	1	0	1.42536e-11	1	1.64464e-11	26	57				
PRPSAP2	5636	broad.mit.edu	37	17	18814458	18814458	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:18814458G>A	ENST00000268835.2	+	9	910	c.627G>A	c.(625-627)gtG>gtA	p.V209V	PRPSAP2_ENST00000536323.1_Silent_p.V123V|PRPSAP2_ENST00000419071.2_Silent_p.V169V|PRPSAP2_ENST00000542013.1_Silent_p.V209V	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 2	209					bone development (GO:0060348)|negative regulation of catalytic activity (GO:0043086)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						GAATTGCAGTGATTCATGGAG	0.572																																						ENST00000268835.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(625-627)gtG>gtA		phosphoribosyl pyrophosphate synthetase-associated protein 2							78.0	69.0	72.0					17																	18814458		2203	4300	6503	SO:0001819	synonymous_variant	5636				nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity	g.chr17:18814458G>A	AB007851	CCDS11200.1, CCDS58525.1, CCDS58526.1, CCDS58527.1	17p12-p11.2	2008-05-14			ENSG00000141127	ENSG00000141127			9467	protein-coding gene	gene with protein product		603762				9806849	Standard	NM_002767		Approved	PAP41	uc002gup.2	O60256	OTTHUMG00000059406	ENST00000268835.2:c.627G>A	17.37:g.18814458G>A						PRPSAP2_ENST00000419071.2_Silent_p.V169V|PRPSAP2_ENST00000542013.1_Silent_p.V209V|PRPSAP2_ENST00000536323.1_Silent_p.V123V	p.V209V	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN			9	910	+			209					B4E1M8|B4E329|B7ZKZ1|E7EMY2|Q6IAS2	Silent	SNP	ENST00000268835.2	37	c.627G>A	CCDS11200.1																																																																																				0.572	PRPSAP2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132112.3	NM_002767		22	71	0	0	0	1	0	22	71				
GRIN1	2902	broad.mit.edu	37	9	140053103	140053103	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:140053103C>T	ENST00000371561.3	+	8	2241	c.1144C>T	c.(1144-1146)Cca>Tca	p.P382S	GRIN1_ENST00000371555.4_Missense_Mutation_p.P403S|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000350902.5_Missense_Mutation_p.P382S|GRIN1_ENST00000371560.3_Missense_Mutation_p.P403S|GRIN1_ENST00000371546.4_Missense_Mutation_p.P403S|GRIN1_ENST00000371550.4_Missense_Mutation_p.P382S|GRIN1_ENST00000315048.3_Missense_Mutation_p.P382S|GRIN1_ENST00000371553.3_Missense_Mutation_p.P403S|GRIN1_ENST00000371559.4_Missense_Mutation_p.P382S	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	382					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GATCATCTGGCCAGGCGGAGA	0.637																																					NSCLC(113;717 1653 2089 20474 37618)	ENST00000371561.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1144-1146)Cca>Tca		glutamate receptor, ionotropic, N-methyl D-aspartate 1	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						86.0	87.0	86.0					9																	140053103		2203	4299	6502	SO:0001583	missense	2902				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding	g.chr9:140053103C>T		CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4584	protein-coding gene	gene with protein product		138249	"""N-methyl-D-aspartate receptor subunit NR1"""	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.1144C>T	9.37:g.140053103C>T	ENSP00000360616:p.Pro382Ser					GRIN1_ENST00000371560.3_Missense_Mutation_p.P403S|GRIN1_ENST00000371553.3_Missense_Mutation_p.P403S|GRIN1_ENST00000371559.4_Missense_Mutation_p.P382S|GRIN1_ENST00000371546.4_Missense_Mutation_p.P403S|GRIN1_ENST00000371550.4_Missense_Mutation_p.P382S|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000350902.5_Missense_Mutation_p.P382S|GRIN1_ENST00000371555.4_Missense_Mutation_p.P403S|GRIN1_ENST00000315048.3_Missense_Mutation_p.P382S	p.P382S	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	8	2241	+	all_cancers(76;0.0926)		382					A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Missense_Mutation	SNP	ENST00000371561.3	37	c.1144C>T	CCDS7031.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479739	0.84747	.	.	ENSG00000176884	ENST00000371561;ENST00000315048;ENST00000350902;ENST00000371550;ENST00000371546;ENST00000371555;ENST00000371553;ENST00000371559;ENST00000371560	T;T;T;T;T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66;1.66;1.66;1.66;1.66	4.27	4.27	0.50696	.	0.000000	0.85682	U	0.000000	T	0.53642	0.1809	M	0.67397	2.05	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.987;1.0;1.0;1.0;0.999	D;P;D;D;D;D	0.91635	0.998;0.78;0.999;0.999;0.997;0.931	T	0.59343	-0.7472	10	0.72032	D	0.01	.	15.2593	0.73610	0.0:1.0:0.0:0.0	.	403;403;382;382;382;382	Q5VSF4;Q5VSF5;Q05586-2;Q05586-3;Q05586;A2AVK2	.;.;.;.;NMDZ1_HUMAN;.	S	382;382;382;382;403;403;403;382;403	ENSP00000360616:P382S;ENSP00000316696:P382S;ENSP00000316915:P382S;ENSP00000360605:P382S;ENSP00000360601:P403S;ENSP00000360610:P403S;ENSP00000360608:P403S;ENSP00000360614:P382S;ENSP00000360615:P403S	ENSP00000316696:P382S	P	+	1	0	GRIN1	139172924	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.594000	0.67557	1.932000	0.55993	0.561000	0.74099	CCA		0.637	GRIN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055267.3	NM_007327		26	57	0	0	0	1	0	26	57				
RBCK1	10616	broad.mit.edu	37	20	398399	398399	+	Silent	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:398399A>G	ENST00000356286.5	+	4	990	c.285A>G	c.(283-285)ccA>ccG	p.P95P	RBCK1_ENST00000382181.2_5'UTR|RBCK1_ENST00000353660.3_Silent_p.P53P	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	95	Interaction with IRF3.|Interaction with RNF31.|Interaction with TAB2.|Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				negative regulation of necroptotic process (GO:0060546)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				ATGGCTTCCCACCAGTCTTGC	0.612																																						ENST00000356286.5																			0				kidney(1)|lung(4)	5						c.(283-285)ccA>ccG		RanBP-type and C3HC4-type zinc finger containing 1							48.0	38.0	42.0					20																	398399		2203	4300	6503	SO:0001819	synonymous_variant	10616				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr20:398399A>G	U67322	CCDS12998.1, CCDS13000.2	20p13	2014-09-17	2006-06-28	2006-06-28	ENSG00000125826	ENSG00000125826		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, RAN-binding domain containing"""	15864	protein-coding gene	gene with protein product	"""heme-oxidized IRP2 ubiquitin ligase 1"""	610924	"""chromosome 20 open reading frame 18"""	C20orf18			Standard	NM_031229		Approved	RBCK2, XAP4, RNF54, ZRANB4, UBCE7IP3, HOIL1	uc002wdp.4	Q9BYM8	OTTHUMG00000031634	ENST00000356286.5:c.285A>G	20.37:g.398399A>G						RBCK1_ENST00000382181.2_5'UTR|RBCK1_ENST00000353660.3_Silent_p.P53P	p.P95P	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN			4	990	+		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)	95			Interaction with IRF3.|Interaction with RNF31.|Interaction with TAB2.|Ubiquitin-like.		O95623|Q86SL2|Q96BS3|Q9BYM9	Silent	SNP	ENST00000356286.5	37	c.285A>G	CCDS13000.2	.	.	.	.	.	.	.	.	.	.	A	9.012	0.982683	0.18889	.	.	ENSG00000125826	ENST00000414880	.	.	.	4.77	-3.77	0.04346	.	.	.	.	.	T	0.52041	0.1710	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51949	-0.8640	4	.	.	.	0.629	9.0323	0.36267	0.2619:0.6067:0.1313:0.0	.	.	.	.	R	128	.	.	H	+	2	0	RBCK1	346399	0.071000	0.21146	0.834000	0.33040	0.788000	0.44548	-0.661000	0.05311	-0.387000	0.07809	-0.666000	0.03841	CAC		0.612	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077461.3	NM_031229		19	52	0	0	0	1	0	19	52				
LAMA5	3911	broad.mit.edu	37	20	60887724	60887724	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:60887724T>C	ENST00000252999.3	-	67	9257	c.9191A>G	c.(9190-9192)tAc>tGc	p.Y3064C		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3064	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GCCCCCCAGGTAGTAGGCGTC	0.701																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(9190-9192)tAc>tGc		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						27.0	26.0	27.0					20																	60887724		2181	4284	6465	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60887724T>C	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.9191A>G	20.37:g.60887724T>C	ENSP00000252999:p.Tyr3064Cys						p.Y3064C	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		67	9257	-	Breast(26;1.57e-08)		3064			Laminin G-like 2.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.9191A>G	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	t	12.72	2.021506	0.35701	.	.	ENSG00000130702	ENST00000252999	T	0.81163	-1.46	4.78	2.4	0.29515	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.137252	0.50627	U	0.000109	D	0.84606	0.5509	L	0.60455	1.87	0.80722	D	1	D	0.63880	0.993	D	0.63597	0.916	T	0.83062	-0.0147	10	0.87932	D	0	.	9.7623	0.40539	0.5288:0.0:0.0:0.4712	.	3064	O15230	LAMA5_HUMAN	C	3064	ENSP00000252999:Y3064C	ENSP00000252999:Y3064C	Y	-	2	0	LAMA5	60321119	1.000000	0.71417	0.997000	0.53966	0.094000	0.18550	1.577000	0.36515	0.172000	0.19760	-0.785000	0.03343	TAC		0.701	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		4	18	0	0	0	1	0	4	18				
PLEKHG5	57449	broad.mit.edu	37	1	6528321	6528321	+	Missense_Mutation	SNP	G	G	A	rs150666859		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:6528321G>A	ENST00000400915.3	-	21	2809	c.2743C>T	c.(2743-2745)Cgc>Tgc	p.R915C	TNFRSF25_ENST00000348333.3_5'Flank|TNFRSF25_ENST00000351748.3_5'Flank|TNFRSF25_ENST00000356876.3_5'Flank|PLEKHG5_ENST00000377748.1_Missense_Mutation_p.R936C|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.R928C|TNFRSF25_ENST00000377782.3_5'Flank|TNFRSF25_ENST00000461703.2_5'Flank|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.R896C|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.R859C|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.R859C|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.R859C|TNFRSF25_ENST00000351959.5_5'Flank|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.R938C|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.R859C|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.R859C|PLEKHG5_ENST00000377740.3_Intron|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.R859C	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	915					apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GTGCGGCGGCGGAGACGGGGC	0.677													g|||	1	0.000199681	0.0008	0.0	5008	,	,		14273	0.0		0.0	False		,,,				2504	0.0					ENST00000377748.1																			0				liver(1)	1						c.(2806-2808)Cgc>Tgc		pleckstrin homology domain containing, family G (with RhoGef domain) member 5		A	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	2,4380		0,2,2189	12.0	16.0	15.0		2743,2575,2575,2575,2806	3.0	1.0	1	dbSNP_134	15	1,8561		0,1,4280	no	missense,missense,missense,missense,missense	PLEKHG5	NM_001042663.1,NM_001042664.1,NM_001042665.1,NM_020631.3,NM_198681.2	180,180,180,180,180	0,3,6469	AA,AG,GG		0.0117,0.0456,0.0232	benign,benign,benign,benign,benign	915/1063,859/1007,859/1007,859/1007,936/1084	6528321	3,12941	2191	4281	6472	SO:0001583	missense	57449				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:6528321G>A	AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"""Pleckstrin homology (PH) domain containing"""	29105	protein-coding gene	gene with protein product	"""synectin-binding guanine exchange factor"""	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.2743C>T	1.37:g.6528321G>A	ENSP00000383706:p.Arg915Cys					PLEKHG5_ENST00000340850.5_Missense_Mutation_p.R859C|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.R859C|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.R859C|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.R896C|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.R859C|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.R938C|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.R859C|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.R859C|PLEKHG5_ENST00000400915.3_Missense_Mutation_p.R915C|PLEKHG5_ENST00000377740.3_Intron|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.R928C	p.R936C	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)	21	3303	-	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)	915					B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Missense_Mutation	SNP	ENST00000400915.3	37	c.2806C>T	CCDS41241.1	.	.	.	.	.	.	.	.	.	.	g	14.57	2.575338	0.45902	4.56E-4	1.17E-4	ENSG00000171680	ENST00000377748;ENST00000340850;ENST00000400913;ENST00000400915;ENST00000377732;ENST00000377728;ENST00000377725;ENST00000535355;ENST00000377737;ENST00000535966;ENST00000537245;ENST00000544978	T;T;T;T;T;T;T;T;T;T;T	0.70749	-0.5;-0.5;-0.5;-0.5;-0.49;-0.5;-0.48;-0.51;-0.5;-0.51;-0.48	4.8	2.95	0.34219	.	0.458028	0.22942	N	0.053764	T	0.53061	0.1773	N	0.19112	0.55	0.39649	D	0.970443	B;B;B;B	0.22983	0.078;0.019;0.078;0.047	B;B;B;B	0.18871	0.023;0.006;0.014;0.006	T	0.49153	-0.8969	10	0.44086	T	0.13	-16.3959	10.182	0.42975	0.1639:0.0:0.8361:0.0	.	928;859;936;915	F5GZ21;O94827-4;O94827-2;O94827	.;.;.;PKHG5_HUMAN	C	936;859;859;915;896;859;859;928;859;765;938;859	ENSP00000366977:R936C;ENSP00000344570:R859C;ENSP00000383704:R859C;ENSP00000383706:R915C;ENSP00000366961:R896C;ENSP00000366957:R859C;ENSP00000366954:R859C;ENSP00000441445:R928C;ENSP00000366966:R859C;ENSP00000439625:R938C;ENSP00000437710:R859C	ENSP00000344570:R859C	R	-	1	0	PLEKHG5	6450908	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	3.271000	0.51608	0.650000	0.30769	-0.224000	0.12420	CGC		0.677	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002631.1	NM_020631		15	8	0	0	0	1	0	15	8				
DOPEY1	23033	broad.mit.edu	37	6	83848263	83848263	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:83848263C>T	ENST00000349129.2	+	21	4762	c.4502C>T	c.(4501-4503)gCa>gTa	p.A1501V	DOPEY1_ENST00000369739.3_Missense_Mutation_p.A1492V|DOPEY1_ENST00000237163.5_Missense_Mutation_p.A1482V|DOPEY1_ENST00000484282.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1501					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ACTGAGCTGGCAAAAGTAATA	0.373																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(4501-4503)gCa>gTa		dopey family member 1							78.0	84.0	82.0					6																	83848263		2203	4300	6503	SO:0001583	missense	23033				protein transport			g.chr6:83848263C>T	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.4502C>T	6.37:g.83848263C>T	ENSP00000195654:p.Ala1501Val					DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.A1492V|DOPEY1_ENST00000237163.5_Missense_Mutation_p.A1482V	p.A1501V	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	21	4762	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	1501					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.4502C>T	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.466402	0.01053	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.39406	1.08;1.08	5.91	5.91	0.95273	.	0.157685	0.56097	D	0.000030	T	0.10937	0.0267	N	0.04203	-0.255	0.80722	D	1	B;B;B	0.29805	0.257;0.087;0.087	B;B;B	0.23018	0.043;0.018;0.018	T	0.18085	-1.0348	10	0.09843	T	0.71	.	20.2963	0.98556	0.0:1.0:0.0:0.0	.	1392;1492;1501	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	V	1501;1482;1482	ENSP00000195654:A1501V;ENSP00000237163:A1482V	ENSP00000237163:A1482V	A	+	2	0	DOPEY1	83904982	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	4.615000	0.61190	2.813000	0.96785	0.655000	0.94253	GCA		0.373	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		28	98	0	0	0	1	0	28	98				
CREG2	200407	broad.mit.edu	37	2	101967419	101967419	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:101967419T>C	ENST00000324768.5	-	4	976	c.839A>G	c.(838-840)gAg>gGg	p.E280G		NM_153836.3	NP_722578.1	Q8IUH2	CREG2_HUMAN	cellular repressor of E1A-stimulated genes 2	280						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	FMN binding (GO:0010181)|oxidoreductase activity (GO:0016491)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						GAAATATTCCTCCCTTGAAAT	0.428																																						ENST00000324768.4																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						c.(838-840)gAg>gGg		cellular repressor of E1A-stimulated genes 2							137.0	129.0	132.0					2																	101967419		2203	4300	6503	SO:0001583	missense	200407					extracellular region	FMN binding	g.chr2:101967419T>C	AB046109	CCDS2052.1	2q12.1	2007-08-01			ENSG00000175874	ENSG00000175874			14272	protein-coding gene	gene with protein product						12408961	Standard	NM_153836		Approved		uc002tba.2	Q8IUH2	OTTHUMG00000130692	ENST00000324768.5:c.839A>G	2.37:g.101967419T>C	ENSP00000315203:p.Glu280Gly						p.E280G	NM_153836.3	NP_722578.1	Q8IUH2	CREG2_HUMAN			4	976	-			280					Q86X03|Q8N540|Q8N9E3	Missense_Mutation	SNP	ENST00000324768.5	37	c.839A>G	CCDS2052.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.483786	0.84854	.	.	ENSG00000175874	ENST00000324768	T	0.53206	0.63	5.88	5.88	0.94601	FMN-binding split barrel-related (1);FMN-binding split barrel (1);	0.000000	0.85682	D	0.000000	T	0.73148	0.3550	M	0.88570	2.965	0.58432	D	0.999999	D	0.71674	0.998	D	0.72338	0.977	T	0.78785	-0.2068	10	0.72032	D	0.01	.	14.859	0.70366	0.0:0.0:0.0:1.0	.	280	Q8IUH2	CREG2_HUMAN	G	280	ENSP00000315203:E280G	ENSP00000315203:E280G	E	-	2	0	CREG2	101333851	1.000000	0.71417	0.995000	0.50966	0.811000	0.45836	6.888000	0.75622	2.242000	0.73789	0.533000	0.62120	GAG		0.428	CREG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253188.2	NM_153836		66	94	0	0	0	1	0	66	94				
FAM210B	116151	broad.mit.edu	37	20	54941215	54941215	+	Missense_Mutation	SNP	G	G	A	rs534520658		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:54941215G>A	ENST00000371384.3	+	3	542	c.451G>A	c.(451-453)Gtg>Atg	p.V151M		NM_080821.2	NP_543011.2	Q96KR6	F210B_HUMAN	family with sequence similarity 210, member B	151	DUF1279.					integral component of membrane (GO:0016021)											AAGTACCTTCGTGGTGGCCTA	0.488													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16370	0.0		0.0	False		,,,				2504	0.0					ENST00000371384.3																			0											c.(451-453)Gtg>Atg		family with sequence similarity 210, member B							110.0	100.0	103.0					20																	54941215		2203	4300	6503	SO:0001583	missense	116151					integral to membrane		g.chr20:54941215G>A	AL121914	CCDS13450.1	20q13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000124098	ENSG00000124098			16102	protein-coding gene	gene with protein product	"""hypothetical protein LOC116151"""		"""chromosome 20 open reading frame 108"""	C20orf108		11780052	Standard	NM_080821		Approved	dJ1167H4.1, DKFZP434A1114	uc002xxc.3	Q96KR6	OTTHUMG00000032793	ENST00000371384.3:c.451G>A	20.37:g.54941215G>A	ENSP00000360437:p.Val151Met						p.V151M	NM_080821.2	NP_543011.2	Q96KR6	CT108_HUMAN			3	542	+			151			DUF1279.		B2RBQ9|E1P5Y7|Q8WVN2|Q9BYL6|Q9H418	Missense_Mutation	SNP	ENST00000371384.3	37	c.451G>A	CCDS13450.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.508052	0.85282	.	.	ENSG00000124098	ENST00000371384	T	0.34472	1.36	5.56	5.56	0.83823	Domain of unknown function DUF1279 (1);	0.000000	0.85682	D	0.000000	T	0.62441	0.2428	M	0.81614	2.55	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.66424	-0.5927	10	0.72032	D	0.01	-31.3283	15.1641	0.72807	0.0:0.0:0.8584:0.1416	.	151	Q96KR6	CT108_HUMAN	M	151	ENSP00000360437:V151M	ENSP00000360437:V151M	V	+	1	0	C20orf108	54374622	1.000000	0.71417	0.994000	0.49952	0.959000	0.62525	6.258000	0.72487	2.595000	0.87683	0.650000	0.86243	GTG		0.488	FAM210B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079800.2	NM_080821		51	80	0	0	0	1	0	51	80				
AMFR	267	broad.mit.edu	37	16	56441908	56441908	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:56441908C>T	ENST00000290649.5	-	4	844	c.634G>A	c.(634-636)Gga>Aga	p.G212R	RP11-413H22.2_ENST00000563090.1_RNA	NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	212					aging (GO:0007568)|cellular component movement (GO:0006928)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|learning or memory (GO:0007611)|protein oligomerization (GO:0051259)|protein polyubiquitination (GO:0000209)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)	dendrite (GO:0030425)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	ligase activity (GO:0016874)|receptor activity (GO:0004872)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						GTGTGCATTCCGTGGGTGTAG	0.552																																					Pancreas(2;144 323 39528)	ENST00000290649.5																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(634-636)Gga>Aga		autocrine motility factor receptor, E3 ubiquitin protein ligase							75.0	72.0	73.0					16																	56441908		2198	4300	6498	SO:0001583	missense	267				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:56441908C>T	L35233	CCDS10758.1	16q21	2013-01-09	2012-02-23		ENSG00000159461	ENSG00000159461		"""RING-type (C3HC4) zinc fingers"""	463	protein-coding gene	gene with protein product		603243	"""autocrine motility factor receptor"""			1649192	Standard	NM_001144		Approved	RNF45, gp78	uc002eiy.4	Q9UKV5	OTTHUMG00000133239	ENST00000290649.5:c.634G>A	16.37:g.56441908C>T	ENSP00000290649:p.Gly212Arg						p.G212R	NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN			4	844	-			212					P26442|Q8IZ70	Missense_Mutation	SNP	ENST00000290649.5	37	c.634G>A	CCDS10758.1	.	.	.	.	.	.	.	.	.	.	C	34	5.388058	0.95988	.	.	ENSG00000159461	ENST00000290649	T	0.43688	0.94	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.68137	0.2968	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.65191	-0.6228	10	0.48119	T	0.1	-27.0629	20.8794	0.99867	0.0:1.0:0.0:0.0	.	212	Q9UKV5	AMFR2_HUMAN	R	212	ENSP00000290649:G212R	ENSP00000290649:G212R	G	-	1	0	AMFR	54999409	1.000000	0.71417	0.929000	0.37066	0.873000	0.50193	7.770000	0.85390	2.941000	0.99782	0.655000	0.94253	GGA		0.552	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256978.2			8	52	0	0	0	1	0	8	52				
SORBS1	10580	broad.mit.edu	37	10	97141462	97141462	+	Missense_Mutation	SNP	C	C	T	rs534703247		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:97141462C>T	ENST00000361941.3	-	16	1659	c.1633G>A	c.(1633-1635)Gtt>Att	p.V545I	SORBS1_ENST00000393949.1_Missense_Mutation_p.V515I|SORBS1_ENST00000371239.1_Missense_Mutation_p.V344I|SORBS1_ENST00000371227.4_Missense_Mutation_p.V499I|SORBS1_ENST00000306402.6_Missense_Mutation_p.V376I|SORBS1_ENST00000371249.2_Missense_Mutation_p.V467I|SORBS1_ENST00000371247.2_Missense_Mutation_p.V545I|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000277982.5_Missense_Mutation_p.V567I|SORBS1_ENST00000371241.1_Missense_Mutation_p.V335I|SORBS1_ENST00000353505.5_Missense_Mutation_p.V430I|SORBS1_ENST00000371245.3_Missense_Mutation_p.V430I|SORBS1_ENST00000607232.1_Missense_Mutation_p.V334I|SORBS1_ENST00000354106.3_Missense_Mutation_p.V515I|SORBS1_ENST00000371246.2_Missense_Mutation_p.V567I|SORBS1_ENST00000347291.4_Missense_Mutation_p.V413I	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		TTGGTCAGAACGGAAGACTTG	0.413													C|||	1	0.000199681	0.0	0.0	5008	,	,		18774	0.0		0.0	False		,,,				2504	0.001					ENST00000371247.2																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1633-1635)Gtt>Att		sorbin and SH3 domain containing 1							191.0	180.0	183.0					10																	97141462		2203	4300	6503	SO:0001583	missense	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97141462C>T	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.1633G>A	10.37:g.97141462C>T	ENSP00000355136:p.Val545Ile					SORBS1_ENST00000354106.3_Missense_Mutation_p.V515I|SORBS1_ENST00000353505.5_Missense_Mutation_p.V430I|SORBS1_ENST00000371246.2_Missense_Mutation_p.V567I|SORBS1_ENST00000371241.1_Missense_Mutation_p.V335I|SORBS1_ENST00000371239.1_Missense_Mutation_p.V344I|SORBS1_ENST00000371249.2_Missense_Mutation_p.V467I|SORBS1_ENST00000347291.4_Missense_Mutation_p.V413I|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000306402.6_Missense_Mutation_p.V376I|SORBS1_ENST00000393949.1_Missense_Mutation_p.V515I|SORBS1_ENST00000607232.1_Missense_Mutation_p.V334I|SORBS1_ENST00000371245.3_Missense_Mutation_p.V430I|SORBS1_ENST00000361941.3_Missense_Mutation_p.V545I|SORBS1_ENST00000371227.4_Missense_Mutation_p.V499I|SORBS1_ENST00000277982.5_Missense_Mutation_p.V567I	p.V545I			Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	18	1822	-		Colorectal(252;0.0429)	545						Missense_Mutation	SNP	ENST00000361941.3	37	c.1633G>A	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	C	9.491	1.100726	0.20552	.	.	ENSG00000095637	ENST00000371245;ENST00000306402;ENST00000371249;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000347291;ENST00000361941;ENST00000277982;ENST00000371241;ENST00000354106;ENST00000371239	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63	5.98	5.08	0.68730	.	0.000000	0.37348	N	0.002139	T	0.22975	0.0555	N	0.04508	-0.205	0.33292	D	0.563601	P;B;B;B;B;B;B;B;B;P;B;B;B	0.44946	0.787;0.007;0.094;0.025;0.22;0.011;0.09;0.162;0.027;0.846;0.094;0.025;0.02	B;B;B;B;B;B;B;B;B;B;B;B;B	0.40636	0.09;0.001;0.038;0.021;0.058;0.013;0.037;0.103;0.012;0.335;0.043;0.019;0.006	T	0.15378	-1.0439	10	0.10111	T	0.7	-7.3573	11.0683	0.47989	0.1275:0.8053:0.0:0.0672	.	697;344;499;467;376;335;344;430;545;567;413;515;123	B7Z9B7;B4DTX5;Q9BX66-11;Q9BX66-10;Q9BX66-9;Q9BX66-4;Q9BX66-8;Q9BX66-3;Q9BX66;Q9BX66-2;Q9BX66-6;Q9BX66-5;Q6MZY5	.;.;.;.;.;.;.;.;SRBS1_HUMAN;.;.;.;.	I	430;376;467;545;499;567;515;430;413;545;567;335;515;344	ENSP00000360291:V430I;ENSP00000302556:V376I;ENSP00000360295:V467I;ENSP00000360293:V545I;ENSP00000360271:V499I;ENSP00000360292:V567I;ENSP00000377521:V515I;ENSP00000343998:V430I;ENSP00000277985:V413I;ENSP00000355136:V545I;ENSP00000277982:V567I;ENSP00000360285:V335I;ENSP00000277984:V515I;ENSP00000360283:V344I	ENSP00000277982:V567I	V	-	1	0	SORBS1	97131452	0.993000	0.37304	0.998000	0.56505	0.955000	0.61496	3.112000	0.50368	2.847000	0.97988	0.591000	0.81541	GTT		0.413	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			37	6	0	0	0	1	0	37	6				
TGFBR2	7048	broad.mit.edu	37	3	30713243	30713243	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:30713243C>T	ENST00000295754.5	+	4	950	c.568C>T	c.(568-570)Cgc>Tgc	p.R190C	TGFBR2_ENST00000359013.4_Missense_Mutation_p.R215C	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	190					activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CTACTGCTACCGCGTTAACCG	0.517																																						ENST00000295754.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						c.(568-570)Cgc>Tgc		transforming growth factor, beta receptor II (70/80kDa)							82.0	71.0	75.0					3																	30713243		2203	4300	6503	SO:0001583	missense	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30713243C>T		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.568C>T	3.37:g.30713243C>T	ENSP00000295754:p.Arg190Cys					TGFBR2_ENST00000359013.4_Missense_Mutation_p.R215C	p.R190C	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN			4	950	+			190					B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	c.568C>T	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.621503	0.87460	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000383765;ENST00000439925	T;T	0.70631	-0.5;-0.5	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.83843	0.5342	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.993	D	0.84166	0.0431	10	0.49607	T	0.09	.	18.8938	0.92416	0.0:1.0:0.0:0.0	.	190;215	P37173;D2JYI1	TGFR2_HUMAN;.	C	190;215;92;56	ENSP00000295754:R190C;ENSP00000351905:R215C	ENSP00000295754:R190C	R	+	1	0	TGFBR2	30688247	1.000000	0.71417	0.991000	0.47740	0.864000	0.49448	3.779000	0.55379	2.450000	0.82876	0.655000	0.94253	CGC		0.517	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			40	7	0	0	0	1	0	40	7				
SEMA3G	56920	broad.mit.edu	37	3	52475366	52475366	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:52475366C>T	ENST00000231721.2	-	7	726	c.727G>A	c.(727-729)Gtg>Atg	p.V243M		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	243	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		AAGAAGTACACCTTGTCATTG	0.627																																						ENST00000231721.2																			0				kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18						c.(727-729)Gtg>Atg		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G							87.0	62.0	70.0					3																	52475366		2203	4300	6503	SO:0001583	missense	56920				multicellular organismal development	extracellular region|membrane	receptor activity	g.chr3:52475366C>T		CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.727G>A	3.37:g.52475366C>T	ENSP00000231721:p.Val243Met						p.V243M	NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)	7	726	-			243			Sema.		Q7L9D9|Q9H7Q3	Missense_Mutation	SNP	ENST00000231721.2	37	c.727G>A	CCDS2856.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051669	0.75960	.	.	ENSG00000010319	ENST00000231721	T	0.20598	2.06	4.56	3.69	0.42338	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.196985	0.44285	N	0.000474	T	0.39200	0.1069	M	0.74546	2.27	0.32285	N	0.567097	D	0.57571	0.98	P	0.62435	0.902	T	0.52245	-0.8601	10	0.59425	D	0.04	.	8.1892	0.31357	0.0:0.8194:0.0:0.1806	.	243	Q9NS98	SEM3G_HUMAN	M	243	ENSP00000231721:V243M	ENSP00000231721:V243M	V	-	1	0	SEMA3G	52450406	0.284000	0.24287	1.000000	0.80357	0.994000	0.84299	0.929000	0.28844	1.165000	0.42670	0.561000	0.74099	GTG		0.627	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1	NM_020163		11	18	0	0	0	1	0	11	18				
PAX4	5078	broad.mit.edu	37	7	127253865	127253865	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:127253865G>A	ENST00000341640.2	-	4	688	c.483C>T	c.(481-483)acC>acT	p.T161T	PAX4_ENST00000338516.3_Silent_p.T169T|PAX4_ENST00000463946.1_Silent_p.T159T|PAX4_ENST00000378740.2_Silent_p.T161T	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	169					cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TCCGGTGGCCGGTCCCTGGGT	0.577																																					Ovarian(113;737 1605 7858 27720 34092)	ENST00000341640.2																			0				cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(481-483)acC>acT		paired box 4							77.0	74.0	75.0					7																	127253865		2203	4300	6503	SO:0001819	synonymous_variant	5078				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:127253865G>A		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.483C>T	7.37:g.127253865G>A						PAX4_ENST00000338516.3_Silent_p.T169T|PAX4_ENST00000463946.1_Silent_p.T159T|PAX4_ENST00000378740.2_Silent_p.T161T	p.T161T	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN			4	688	-			169					O95161|Q6B0H0	Silent	SNP	ENST00000341640.2	37	c.483C>T	CCDS5797.1																																																																																				0.577	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1			46	33	0	0	0	1	0	46	33				
MDC1	9656	broad.mit.edu	37	6	30680659	30680659	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:30680659G>A	ENST00000376406.3	-	5	1707	c.1060C>T	c.(1060-1062)Cat>Tat	p.H354Y	MDC1_ENST00000494654.1_5'Flank|MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.H354Y	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	354	Required for nuclear localization (NLS1).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						CCTACTCCATGGAAGATCTTC	0.552								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(1060-1062)Cat>Tat	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							99.0	112.0	107.0					6																	30680659		1510	2709	4219	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30680659G>A	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.1060C>T	6.37:g.30680659G>A	ENSP00000365588:p.His354Tyr					MDC1_ENST00000376405.2_Missense_Mutation_p.H354Y|MDC1-AS1_ENST00000442150.1_RNA	p.H354Y	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN			5	1707	-			354			Required for nuclear localization (NLS1).		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.1060C>T	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	G	5.654	0.305226	0.10678	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.02890	4.22;4.12	4.63	1.76	0.24704	.	0.519636	0.14555	N	0.312403	T	0.01627	0.0052	L	0.57536	1.79	0.09310	N	1	B;B;D;B	0.54601	0.244;0.102;0.967;0.009	B;B;P;B	0.46629	0.038;0.037;0.522;0.009	T	0.45991	-0.9223	10	0.54805	T	0.06	0.0227	4.855	0.13555	0.2016:0.1787:0.6197:0.0	.	354;226;354;354	Q14676-2;B4DYH4;Q14676;Q14676-4	.;.;MDC1_HUMAN;.	Y	354;354;354;226	ENSP00000365588:H354Y;ENSP00000365587:H354Y	ENSP00000365587:H354Y	H	-	1	0	MDC1	30788638	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	0.017000	0.13399	0.238000	0.21222	0.561000	0.74099	CAT		0.552	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		26	154	0	0	0	1	0	26	154				
ALG8	79053	broad.mit.edu	37	11	77830229	77830229	+	Splice_Site	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:77830229T>C	ENST00000299626.5	-	5	616	c.545A>G	c.(544-546)cAg>cGg	p.Q182R	ALG8_ENST00000532552.2_Intron|ALG8_ENST00000376156.3_Splice_Site_p.Q182R	NM_024079.4	NP_076984.2	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	182					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			TATGTTTACCTGAAATAATCG	0.318																																						ENST00000376156.3																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30						c.e5+1		ALG8, alpha-1,3-glucosyltransferase							69.0	65.0	66.0					11																	77830229		2200	4289	6489	SO:0001630	splice_region_variant	79053				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr11:77830229T>C	AJ224875	CCDS8258.1, CCDS41692.1	11q14.1	2013-03-01	2013-03-01		ENSG00000159063	ENSG00000159063	2.4.1.265		23161	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	608103	"""asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""				Standard	XM_005274247		Approved	MGC2840	uc001oza.1	Q9BVK2	OTTHUMG00000166594	ENST00000299626.5:c.546+1A>G	11.37:g.77830229T>C						ALG8_ENST00000532552.2_Intron|ALG8_ENST00000299626.5_Splice_Site_p.Q182_splice	p.Q182_splice	NM_001007027.2	NP_001007028.1	Q9BVK2	ALG8_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)		5	548	-	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		182					A6NDW6|O60860	Splice_Site	SNP	ENST00000299626.5	37	c.546_splice	CCDS8258.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.47|14.47	2.545489|2.545489	0.45280|0.45280	.|.	.|.	ENSG00000159063|ENSG00000159063	ENST00000299626;ENST00000376156;ENST00000525755;ENST00000530454;ENST00000525870;ENST00000527099|ENST00000532306;ENST00000529139	D;D;D;D;D;D|.	0.82984|.	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67|.	5.64|5.64	4.5|4.5	0.54988|0.54988	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.50973|0.50973	0.1647|0.1647	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	B;B;B|.	0.28419|.	0.043;0.211;0.182|.	B;B;B|.	0.32533|.	0.102;0.147;0.147|.	T|T	0.43702|0.43702	-0.9375|-0.9375	10|5	0.09843|.	T|.	0.71|.	-8.6362|-8.6362	13.0855|13.0855	0.59138|0.59138	0.0:0.0:0.1339:0.866|0.0:0.0:0.1339:0.866	.|.	182;182;182|.	B3KQL8;Q9BVK2;A6NDW6|.	.;ALG8_HUMAN;.|.	R|G	182;182;131;183;94;94|56;27	ENSP00000299626:Q182R;ENSP00000365326:Q182R;ENSP00000435467:Q131R;ENSP00000434660:Q183R;ENSP00000435417:Q94R;ENSP00000436064:Q94R|.	ENSP00000299626:Q182R|.	Q|R	-|-	2|1	0|2	ALG8|ALG8	77507877|77507877	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.025000|7.025000	0.76449|0.76449	1.129000|1.129000	0.42072|0.42072	0.528000|0.528000	0.53228|0.53228	CAG|AGA		0.318	ALG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390637.1	NM_024079	Missense_Mutation	20	56	0	0	0	1	0	20	56				
CDH9	1007	broad.mit.edu	37	5	26881605	26881605	+	Silent	SNP	T	T	C	rs372708117		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:26881605T>C	ENST00000231021.4	-	12	2182	c.2010A>G	c.(2008-2010)caA>caG	p.Q670Q		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	670					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TGTCAAAAGCTTGGGTATCTT	0.433																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(2008-2010)caA>caG		cadherin 9, type 2 (T1-cadherin)		T		0,4406		0,0,2203	183.0	183.0	183.0		2010	-2.0	1.0	5		183	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CDH9	NM_016279.3		0,1,6502	CC,CT,TT		0.0116,0.0,0.0077		670/790	26881605	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26881605T>C	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.2010A>G	5.37:g.26881605T>C							p.Q670Q	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			12	2182	-			670					Q3B7I5	Silent	SNP	ENST00000231021.4	37	c.2010A>G	CCDS3893.1																																																																																				0.433	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		41	173	0	0	0	1	0	41	173				
NUDC	10726	broad.mit.edu	37	1	27269437	27269437	+	Missense_Mutation	SNP	C	C	T	rs537966346		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:27269437C>T	ENST00000321265.5	+	6	745	c.622C>T	c.(622-624)Cgg>Tgg	p.R208W		NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein	208	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)				cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		GCGGCACCTCCGGGTGGGGCT	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		17676	0.0		0.001	False		,,,				2504	0.0					ENST00000321265.5																			0				cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8						c.(622-624)Cgg>Tgg		nudC nuclear distribution protein							54.0	57.0	56.0					1																	27269437		2203	4300	6503	SO:0001583	missense	10726				cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development	cytosol|microtubule|nucleoplasm	protein binding	g.chr1:27269437C>T		CCDS292.1	1p35-p34	2013-08-06	2013-08-06		ENSG00000090273	ENSG00000090273			8045	protein-coding gene	gene with protein product		610325	"""nuclear distribution gene C homolog (A. nidulans)"", ""nuclear distribution C homolog (A. nidulans)"""				Standard	NM_006600		Approved	NudC	uc001bng.2	Q9Y266	OTTHUMG00000004226	ENST00000321265.5:c.622C>T	1.37:g.27269437C>T	ENSP00000319664:p.Arg208Trp						p.R208W	NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)	6	745	+			208			CS.		Q5QP31|Q5QP35|Q9H0N2|Q9Y2B6	Missense_Mutation	SNP	ENST00000321265.5	37	c.622C>T	CCDS292.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.636036	0.87760	.	.	ENSG00000090273	ENST00000321265	T	0.56275	0.47	5.24	4.31	0.51392	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.199772	0.50627	D	0.000102	T	0.66436	0.2789	M	0.81341	2.54	0.47905	D	0.999548	D;D	0.76494	0.999;0.998	P;P	0.55749	0.783;0.783	T	0.70167	-0.4946	9	.	.	.	5.8492	12.3858	0.55330	0.4669:0.5331:0.0:0.0	.	159;208	Q9H2R7;Q9Y266	.;NUDC_HUMAN	W	208	ENSP00000319664:R208W	.	R	+	1	2	NUDC	27142024	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.262000	0.65501	1.203000	0.43233	0.449000	0.29647	CGG		0.597	NUDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012172.2			23	59	0	0	0	1	0	23	59				
PRG4	10216	broad.mit.edu	37	1	186276124	186276124	+	Missense_Mutation	SNP	A	A	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:186276124A>C	ENST00000445192.2	+	7	1318	c.1273A>C	c.(1273-1275)Acc>Ccc	p.T425P	PRG4_ENST00000367486.3_Missense_Mutation_p.T382P|PRG4_ENST00000367483.4_Missense_Mutation_p.T384P|PRG4_ENST00000367485.4_Missense_Mutation_p.T332P|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	425	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACCACCAAGTCTGC	0.657																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1273-1275)Acc>Ccc		proteoglycan 4							89.0	87.0	88.0					1																	186276124		2203	4298	6501	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276124A>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1273A>C	1.37:g.186276124A>C	ENSP00000399679:p.Thr425Pro					PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.T382P|PRG4_ENST00000367483.4_Missense_Mutation_p.T384P|PRG4_ENST00000367485.4_Missense_Mutation_p.T332P	p.T425P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1318	+			425			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1273A>C	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	2.079	-0.411270	0.04799	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.05319	3.47;3.61;3.46;3.62	1.69	-3.39	0.04868	.	.	.	.	.	T	0.02688	0.0081	N	0.11927	0.2	0.09310	N	0.999999	B;B;B;B	0.06786	0.001;0.001;0.0;0.001	B;B;B;B	0.06405	0.002;0.002;0.0;0.002	T	0.46359	-0.9197	8	.	.	.	.	3.1727	0.06558	0.3958:0.3942:0.21:0.0	.	291;332;425;384	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	P	382;291;384;332;425	ENSP00000356456:T382P;ENSP00000356453:T384P;ENSP00000356455:T332P;ENSP00000399679:T425P	.	T	+	1	0	PRG4	184542747	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.348000	0.07740	-0.861000	0.04094	0.149000	0.16113	ACC		0.657	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		21	112	0	0	0	1	0	21	112				
CORO6	84940	broad.mit.edu	37	17	27944056	27944056	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:27944056T>C	ENST00000445145.2	-	6	759	c.758A>G	c.(757-759)aAc>aGc	p.N253S	CORO6_ENST00000577909.1_Intron|CORO6_ENST00000345068.5_Missense_Mutation_p.N253S|CORO6_ENST00000456796.3_Missense_Mutation_p.N19S|CORO6_ENST00000584969.1_Missense_Mutation_p.N253S|CORO6_ENST00000388767.3_Missense_Mutation_p.N253S|CORO6_ENST00000580212.1_Missense_Mutation_p.N213S|RP11-68I3.2_ENST00000581474.1_RNA			Q6QEF8	CORO6_HUMAN	coronin 6	253					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)	actin filament binding (GO:0051015)			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						CTCCTCGAAGTTGTTCTGCCC	0.607																																						ENST00000345068.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						c.(757-759)aAc>aGc		coronin 6							123.0	108.0	113.0					17																	27944056		2203	4300	6503	SO:0001583	missense	84940				actin cytoskeleton organization	actin cytoskeleton	actin filament binding	g.chr17:27944056T>C	AF193039	CCDS11252.2	17q11.2	2013-01-10			ENSG00000167549	ENSG00000167549		"""Coronins"", ""WD repeat domain containing"""	21356	protein-coding gene	gene with protein product							Standard	NM_032854		Approved	FLJ14871	uc002hel.2	Q6QEF8	OTTHUMG00000132732	ENST00000445145.2:c.758A>G	17.37:g.27944056T>C	ENSP00000393624:p.Asn253Ser					CORO6_ENST00000580212.1_Missense_Mutation_p.N213S|CORO6_ENST00000445145.2_Missense_Mutation_p.N253S|CORO6_ENST00000577909.1_Intron|CORO6_ENST00000456796.3_Missense_Mutation_p.N19S|CORO6_ENST00000388767.3_Missense_Mutation_p.N253S|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000584969.1_Missense_Mutation_p.N253S	p.N253S			Q6QEF8	CORO6_HUMAN			7	971	-			253					B3KU26|Q71MF3|Q8WYH7|Q96K02	Missense_Mutation	SNP	ENST00000445145.2	37	c.758A>G		.	.	.	.	.	.	.	.	.	.	T	14.37	2.514428	0.44763	.	.	ENSG00000167549	ENST00000345068;ENST00000388767;ENST00000445145;ENST00000456796	T;T;T	0.18016	5.05;5.05;2.24	5.3	5.3	0.74995	.	0.175345	0.48286	D	0.000185	T	0.21145	0.0509	L	0.55743	1.74	0.58432	D	0.999999	B;B	0.30824	0.296;0.004	B;B	0.33890	0.172;0.013	T	0.02053	-1.1222	10	0.45353	T	0.12	-2.0E-4	15.0819	0.72122	0.0:0.0:0.0:1.0	.	19;253	Q6QEF8-4;Q6QEF8-5	.;.	S	324;253;253;19	ENSP00000373419:N253S;ENSP00000393624:N253S;ENSP00000403019:N19S	ENSP00000344562:N324S	N	-	2	0	CORO6	24968182	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.021000	0.70832	2.220000	0.72140	0.533000	0.62120	AAC		0.607	CORO6-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000447831.1	NM_032854		12	123	0	0	0	1	0	12	123				
OTOP3	347741	broad.mit.edu	37	17	72945430	72945430	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:72945430C>T	ENST00000328801.4	+	7	1710	c.1710C>T	c.(1708-1710)atC>atT	p.I570I		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	570						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					GGTTCGCCATCGTCAACTTCG	0.597																																						ENST00000328801.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1708-1710)atC>atT		otopetrin 3							74.0	68.0	70.0					17																	72945430		2203	4300	6503	SO:0001819	synonymous_variant	347741					integral to membrane|intracellular	zinc ion binding	g.chr17:72945430C>T	BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.1710C>T	17.37:g.72945430C>T							p.I570I	NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN			7	1710	+	all_lung(278;0.151)|Lung NSC(278;0.185)		570						Silent	SNP	ENST00000328801.4	37	c.1710C>T	CCDS11709.1																																																																																				0.597	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445308.1	NM_178233		54	74	0	0	0	1	0	54	74				
ADCK1	57143	broad.mit.edu	37	14	78325515	78325515	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:78325515C>A	ENST00000238561.5	+	4	415	c.316C>A	c.(316-318)Ctg>Atg	p.L106M	ADCK1_ENST00000341211.5_Intron	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	113						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		TCTGGACTACCTGTTGCCAGA	0.617																																						ENST00000238561.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25						c.(316-318)Ctg>Atg		aarF domain containing kinase 1							74.0	71.0	72.0					14																	78325515		2203	4300	6503	SO:0001583	missense	57143					extracellular region	ATP binding|protein serine/threonine kinase activity	g.chr14:78325515C>A	AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.316C>A	14.37:g.78325515C>A	ENSP00000238561:p.Leu106Met					ADCK1_ENST00000341211.5_Intron	p.L106M	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)	4	415	+			113					B3KUD5|Q6PD65|Q9UIE6	Missense_Mutation	SNP	ENST00000238561.5	37	c.316C>A	CCDS9869.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.438236	0.62955	.	.	ENSG00000063761	ENST00000238561;ENST00000557501	T;D	0.84873	-0.67;-1.91	5.58	1.63	0.23807	.	0.076094	0.53938	D	0.000045	D	0.90981	0.7164	M	0.85710	2.77	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88770	0.3263	10	0.59425	D	0.04	-12.0243	7.8075	0.29211	0.0:0.686:0.1158:0.1982	.	106	Q86TW2-2	.	M	106	ENSP00000238561:L106M;ENSP00000451549:L106M	ENSP00000238561:L106M	L	+	1	2	ADCK1	77395268	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	3.948000	0.56660	0.295000	0.22570	-0.254000	0.11334	CTG		0.617	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1	NM_020421		22	128	1	0	3.62473e-10	1	4.11573e-10	22	128				
BMP2K	55589	broad.mit.edu	37	4	79833124	79833124	+	Silent	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:79833124C>A	ENST00000335016.5	+	16	3589	c.3423C>A	c.(3421-3423)tcC>tcA	p.S1141S	PAQR3_ENST00000515541.1_5'Flank|PAQR3_ENST00000512733.1_3'UTR|PAQR3_ENST00000295462.3_Intron	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	1141					regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						CACATCAGTCCCAACAGTCCC	0.443																																						ENST00000335016.5																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(3421-3423)tcC>tcA		BMP2 inducible kinase							190.0	183.0	185.0					4																	79833124		1956	4136	6092	SO:0001819	synonymous_variant	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79833124C>A	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.3423C>A	4.37:g.79833124C>A						PAQR3_ENST00000512733.1_3'UTR|PAQR3_ENST00000295462.3_Intron	p.S1141S	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			16	3589	+			1141					O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Silent	SNP	ENST00000335016.5	37	c.3423C>A	CCDS47083.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.541839	0.00934	.	.	ENSG00000138756	ENST00000502613	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	T	0.75087	0.3802	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73672	-0.3909	4	.	.	.	-0.526	19.12	0.93358	0.0:1.0:0.0:0.0	.	.	.	.	T	834	.	.	P	+	1	0	BMP2K	80052148	0.999000	0.42202	0.998000	0.56505	0.025000	0.11179	1.763000	0.38461	2.516000	0.84829	0.455000	0.32223	CCA		0.443	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		91	24	1	0	3.47606e-37	1	4.35462e-37	91	24				
CCT6P1	643253	broad.mit.edu	37	7	65222986	65222986	+	RNA	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:65222986G>T	ENST00000442266.1	+	0	578				SNORA15_ENST00000384058.1_RNA|SNORA22_ENST00000383907.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		GAATTCTGGCGTTTTTTACAA	0.289																																						ENST00000442266.1																			0																																																			643253							g.chr7:65222986G>T	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65222986G>T														0	578	+									RNA	SNP	ENST00000442266.1	37																																																																																						0.289	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		6	20	1	0	0.307466	1	0.308006	6	20				
TCOF1	6949	broad.mit.edu	37	5	149755366	149755366	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:149755366C>T	ENST00000504761.2	+	12	1787	c.1787C>T	c.(1786-1788)gCc>gTc	p.A596V	TCOF1_ENST00000323668.7_Missense_Mutation_p.A519V|TCOF1_ENST00000439160.2_Missense_Mutation_p.A596V|TCOF1_ENST00000445265.2_Missense_Mutation_p.A519V|TCOF1_ENST00000394269.3_Missense_Mutation_p.A596V|TCOF1_ENST00000513346.1_Missense_Mutation_p.A596V|TCOF1_ENST00000377797.3_Missense_Mutation_p.A596V|TCOF1_ENST00000451292.1_Missense_Mutation_p.A596V			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	596					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGCCTGTAGCCGTCCAGGTC	0.602																																						ENST00000451292.1																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35						c.(1786-1788)gCc>gTc		Treacher Collins-Franceschetti syndrome 1							77.0	84.0	82.0					5																	149755366		2203	4300	6503	SO:0001583	missense	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149755366C>T		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.1787C>T	5.37:g.149755366C>T	ENSP00000421655:p.Ala596Val					TCOF1_ENST00000513346.1_Missense_Mutation_p.A596V|TCOF1_ENST00000504761.2_Missense_Mutation_p.A596V|TCOF1_ENST00000394269.3_Missense_Mutation_p.A596V|TCOF1_ENST00000445265.2_Missense_Mutation_p.A519V|TCOF1_ENST00000323668.7_Missense_Mutation_p.A519V|TCOF1_ENST00000377797.3_Missense_Mutation_p.A596V|TCOF1_ENST00000439160.2_Missense_Mutation_p.A596V	p.A596V			Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		12	1895	+		all_hematologic(541;0.224)	596					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	ENST00000504761.2	37	c.1787C>T	CCDS54936.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.950355	0.53186	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000394269;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47	3.96	2.16	0.27623	Treacher Collins syndrome, treacle (1);	0.995188	0.08136	N	0.992423	T	0.77226	0.4099	L	0.60455	1.87	0.09310	N	1	D;B;B;B;D;B;B	0.61080	0.979;0.06;0.157;0.06;0.989;0.157;0.347	P;B;B;B;P;B;B	0.62298	0.732;0.034;0.034;0.034;0.9;0.034;0.058	T	0.59920	-0.7363	10	0.46703	T	0.11	-2.0503	6.046	0.19760	0.0:0.7612:0.0:0.2388	.	105;596;519;596;596;519;596	B4DRA2;Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8;Q13428-5	.;.;.;.;TCOF_HUMAN;.;.	V	596;596;519;519;596;596;596;596;596	ENSP00000400939:A596V;ENSP00000367028:A596V;ENSP00000409944:A519V;ENSP00000325223:A519V;ENSP00000406888:A596V;ENSP00000377811:A596V;ENSP00000390717:A596V;ENSP00000421655:A596V;ENSP00000427484:A596V	ENSP00000325223:A519V	A	+	2	0	TCOF1	149735559	0.000000	0.05858	0.101000	0.21167	0.685000	0.39939	0.528000	0.23002	0.440000	0.26502	0.313000	0.20887	GCC		0.602	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		38	55	0	0	0	1	0	38	55				
PLXNA3	55558	broad.mit.edu	37	X	153694099	153694099	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chrX:153694099G>A	ENST00000369682.3	+	13	2616	c.2441G>A	c.(2440-2442)tGc>tAc	p.C814Y		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	814					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GAGCACAGGTGCCAGCTGCGG	0.672																																						ENST00000369682.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(2440-2442)tGc>tAc		plexin A3							32.0	36.0	35.0					X																	153694099		2202	4298	6500	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153694099G>A	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.2441G>A	X.37:g.153694099G>A	ENSP00000358696:p.Cys814Tyr						p.C814Y	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			13	2616	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		814					Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.2441G>A	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.481736	0.84747	.	.	ENSG00000130827	ENST00000369682	D	0.91464	-2.85	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.96658	0.8909	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97636	1.0145	10	0.87932	D	0	.	17.2912	0.87157	0.0:0.0:1.0:0.0	.	814	P51805	PLXA3_HUMAN	Y	814	ENSP00000358696:C814Y	ENSP00000358696:C814Y	C	+	2	0	PLXNA3	153347293	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.973000	0.88032	2.350000	0.79820	0.529000	0.55759	TGC		0.672	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		28	25	0	0	0	1	0	28	25				
C1orf64	149563	broad.mit.edu	37	1	16332528	16332528	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:16332528C>A	ENST00000329454.2	+	2	265	c.197C>A	c.(196-198)gCc>gAc	p.A66D	RP11-5P18.5_ENST00000437156.1_RNA	NM_178840.2	NP_849162.1	Q8NEQ6	CA064_HUMAN	chromosome 1 open reading frame 64	66										breast(2)|endometrium(1)|lung(3)	6		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		CCACCCCAAGCCCCCAGTCCC	0.597																																						ENST00000329454.2																			0				breast(2)|endometrium(1)|lung(3)	6						c.(196-198)gCc>gAc		chromosome 1 open reading frame 64							118.0	121.0	120.0					1																	16332528		2203	4300	6503	SO:0001583	missense	149563							g.chr1:16332528C>A	AK127425	CCDS166.1	1p36.13	2013-10-11			ENSG00000183888	ENSG00000183888			28339	protein-coding gene	gene with protein product	"""ER-related factor"""					22341523	Standard	NM_178840		Approved	MGC24047, ERRF	uc001axn.3	Q8NEQ6	OTTHUMG00000009523	ENST00000329454.2:c.197C>A	1.37:g.16332528C>A	ENSP00000332162:p.Ala66Asp						p.A66D	NM_178840.2	NP_849162.1	Q8NEQ6	CA064_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)	2	265	+		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	66					B3KXI9	Missense_Mutation	SNP	ENST00000329454.2	37	c.197C>A	CCDS166.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476431	0.44044	.	.	ENSG00000183888	ENST00000329454	T	0.48836	0.8	5.47	-0.883	0.10600	.	0.896444	0.09474	N	0.797337	T	0.42562	0.1208	L	0.32530	0.975	0.09310	N	1	P	0.47677	0.899	P	0.50708	0.648	T	0.34976	-0.9807	10	0.72032	D	0.01	-1.2151	5.4302	0.16448	0.0:0.4526:0.1488:0.3985	.	66	Q8NEQ6	CA064_HUMAN	D	66	ENSP00000332162:A66D	ENSP00000332162:A66D	A	+	2	0	C1orf64	16205115	0.000000	0.05858	0.000000	0.03702	0.124000	0.20399	-0.504000	0.06375	-0.446000	0.07149	-0.136000	0.14681	GCC		0.597	C1orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026317.1	NM_178840		102	90	1	0	9.16707e-34	1	1.14338e-33	102	90				
CCER1	196477	broad.mit.edu	37	12	91348252	91348252	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:91348252C>A	ENST00000358859.2	-	1	701	c.268G>T	c.(268-270)Ggg>Tgg	p.G90W	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	90																	CGCCAGGGCCCTCCCCAGCAC	0.632																																						ENST00000358859.2																			0											c.(268-270)Ggg>Tgg		coiled-coil glutamate-rich protein 1							30.0	36.0	34.0					12																	91348252		2203	4300	6503	SO:0001583	missense	196477							g.chr12:91348252C>A	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.268G>T	12.37:g.91348252C>A	ENSP00000351727:p.Gly90Trp					CCER1_ENST00000548187.1_Intron	p.G90W	NM_152638.2	NP_689851.1					1	701	-								Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	c.268G>T	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.399296	0.42512	.	.	ENSG00000197651	ENST00000358859	T	0.56776	0.44	4.62	3.7	0.42460	.	0.236011	0.21885	N	0.067674	T	0.40815	0.1132	L	0.27053	0.805	0.09310	N	0.999999	P	0.46706	0.883	B	0.43052	0.406	T	0.30119	-0.9989	10	0.87932	D	0	-16.6021	9.7369	0.40392	0.2061:0.7939:0.0:0.0	.	90	Q8TC90	CL012_HUMAN	W	90	ENSP00000351727:G90W	ENSP00000351727:G90W	G	-	1	0	C12orf12	89872383	0.195000	0.23338	0.062000	0.19696	0.707000	0.40811	1.922000	0.40045	1.102000	0.41551	0.462000	0.41574	GGG		0.632	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		7	43	1	0	0.0293803	1	0.029588	7	43				
NCOR1	9611	broad.mit.edu	37	17	15942951	15942951	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:15942951C>A	ENST00000268712.3	-	44	7008	c.6751G>T	c.(6751-6753)Ggc>Tgc	p.G2251C	AC002553.1_ENST00000442828.1_5'Flank|NCOR1_ENST00000395851.1_Missense_Mutation_p.G2148C|NCOR1_ENST00000395857.3_Missense_Mutation_p.G835C	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2251	ID2. {ECO:0000250}.|Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AAAGAATGGCCTCTAGAGCTA	0.443																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(6751-6753)Ggc>Tgc		nuclear receptor corepressor 1							56.0	50.0	52.0					17																	15942951		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15942951C>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.6751G>T	17.37:g.15942951C>A	ENSP00000268712:p.Gly2251Cys					NCOR1_ENST00000395857.3_Missense_Mutation_p.G835C|NCOR1_ENST00000395851.1_Missense_Mutation_p.G2148C	p.G2251C	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	44	7008	-			2251			ID2 (By similarity).|Interaction with C1D (By similarity).		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.6751G>T	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.782299	0.31502	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.42513	0.98;1.55;0.97	5.69	4.69	0.59074	.	0.180866	0.64402	D	0.000011	T	0.47414	0.1444	N	0.20986	0.625	0.43242	D	0.995157	D;P;D;D;D	0.89917	0.972;0.927;1.0;0.984;0.997	P;B;D;P;D	0.87578	0.614;0.425;0.998;0.845;0.953	T	0.44406	-0.9330	10	0.45353	T	0.12	-2.6829	10.0838	0.42406	0.0:0.894:0.0:0.106	.	2155;2251;2148;771;265	E7EVK1;O75376;O75376-2;Q86YY1;Q86YY2	.;NCOR1_HUMAN;.;.;.	C	2251;2148;2155;835	ENSP00000268712:G2251C;ENSP00000379192:G2148C;ENSP00000379198:G835C	ENSP00000268712:G2251C	G	-	1	0	NCOR1	15883676	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.754000	0.55189	1.269000	0.44280	0.655000	0.94253	GGC		0.443	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		20	25	1	0	5.03518e-11	1	5.7864e-11	20	25				
WTIP	126374	broad.mit.edu	37	19	34984431	34984431	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:34984431G>A	ENST00000590071.2	+	5	1272	c.935G>A	c.(934-936)gGc>gAc	p.G312D	WTIP_ENST00000270288.6_Missense_Mutation_p.G536D	NM_001080436.1	NP_001073905.1	A6NIX2	WTIP_HUMAN	Wilms tumor 1 interacting protein	312	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|negative regulation of hippo signaling (GO:0035331)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TACCACCCAGGCTGCTTCCGG	0.647																																						ENST00000590071.2																			0				NS(1)|large_intestine(2)|lung(1)	4						c.(934-936)gGc>gAc		Wilms tumor 1 interacting protein							53.0	60.0	58.0					19																	34984431		2180	4286	6466	SO:0001583	missense	126374							g.chr19:34984431G>A	AK130059	CCDS59375.1	19q13.11	2012-03-16			ENSG00000142279	ENSG00000142279			20964	protein-coding gene	gene with protein product	"""WT1-interacting protein"""	614790				14736876	Standard	NM_001080436		Approved		uc002nvm.3	A6NIX2		ENST00000590071.2:c.935G>A	19.37:g.34984431G>A	ENSP00000466953:p.Gly312Asp					WTIP_ENST00000270288.6_Missense_Mutation_p.G536D	p.G312D	NM_001080436.1	NP_001073905.1			LUSC - Lung squamous cell carcinoma(66;0.211)		5	1272	+	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)								Missense_Mutation	SNP	ENST00000590071.2	37	c.935G>A	CCDS59375.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185556	0.78677	.	.	ENSG00000142279	ENST00000270288	D	0.86627	-2.15	5.59	5.59	0.84812	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.86748	0.6007	N	0.04686	-0.185	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.89491	0.3757	10	0.52906	T	0.07	.	18.3542	0.90351	0.0:0.0:1.0:0.0	.	536	A6NIX2	WTIP_HUMAN	D	536	ENSP00000270288:G536D	ENSP00000270288:G536D	G	+	2	0	WTIP	39676271	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.299000	0.78831	2.624000	0.88883	0.561000	0.74099	GGC		0.647	WTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459381.3	XM_059037		17	71	0	0	0	1	0	17	71				
HPS5	11234	broad.mit.edu	37	11	18320386	18320386	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:18320386C>T	ENST00000349215.3	-	10	1394	c.1117G>A	c.(1117-1119)Gct>Act	p.A373T	HPS5_ENST00000531848.1_Missense_Mutation_p.A259T|HPS5_ENST00000396253.3_Missense_Mutation_p.A259T|HPS5_ENST00000438420.2_Missense_Mutation_p.A259T|HPS5_ENST00000352460.3_5'Flank	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	373					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)		p.A373S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GTACGAGCAGCCAAGTTCCAT	0.463									Hermansky-Pudlak syndrome																													ENST00000396253.3																			1	Substitution - Missense(1)	p.A373S(1)	lung(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(775-777)Gct>Act		Hermansky-Pudlak syndrome 5							157.0	146.0	150.0					11																	18320386		2199	4293	6492	SO:0001583	missense	11234	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18320386C>T	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.1117G>A	11.37:g.18320386C>T	ENSP00000265967:p.Ala373Thr					HPS5_ENST00000531848.1_Missense_Mutation_p.A259T|HPS5_ENST00000438420.2_Missense_Mutation_p.A259T|HPS5_ENST00000349215.3_Missense_Mutation_p.A373T	p.A259T	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN			9	1237	-			373					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	ENST00000349215.3	37	c.775G>A	CCDS7836.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.025791	0.93518	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215;ENST00000531848	T;T;T;T	0.61980	0.06;0.06;0.06;1.24	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.80308	0.4599	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80897	-0.1177	10	0.66056	D	0.02	.	19.5916	0.95514	0.0:1.0:0.0:0.0	.	373	Q9UPZ3	HPS5_HUMAN	T	259;259;373;259	ENSP00000379552:A259T;ENSP00000399590:A259T;ENSP00000265967:A373T;ENSP00000431758:A259T	ENSP00000265967:A373T	A	-	1	0	HPS5	18276962	1.000000	0.71417	1.000000	0.80357	0.572000	0.35998	7.320000	0.79064	2.861000	0.98227	0.655000	0.94253	GCT		0.463	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		34	198	0	0	0	1	0	34	198				
NAT16	375607	broad.mit.edu	37	7	100817864	100817864	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:100817864G>A	ENST00000300303.2	-	2	463	c.225C>T	c.(223-225)ggC>ggT	p.G75G	NAT16_ENST00000455377.1_Silent_p.G75G|NAT16_ENST00000443096.1_Silent_p.G75G	NM_198571.2	NP_940973.2	Q8N8M0	NAT16_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	75	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.						N-acetyltransferase activity (GO:0008080)										AGTCCAGGCCGCCGTAGATGC	0.692																																						ENST00000300303.2																			0											c.(223-225)ggC>ggT		N-acetyltransferase 16 (GCN5-related, putative)							51.0	44.0	46.0					7																	100817864		2203	4300	6503	SO:0001819	synonymous_variant	375607						N-acetyltransferase activity	g.chr7:100817864G>A	AK096556	CCDS5713.1	7q22.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000167011	ENSG00000167011			22030	protein-coding gene	gene with protein product		615783	"""chromosome 7 open reading frame 52"""	C7orf52			Standard	NM_198571		Approved	FLJ39237	uc003uxy.2	Q8N8M0	OTTHUMG00000157110	ENST00000300303.2:c.225C>T	7.37:g.100817864G>A						NAT16_ENST00000443096.1_Silent_p.G75G|NAT16_ENST00000455377.1_Silent_p.G75G	p.G75G	NM_198571.2	NP_940973.2	Q8N8M0	CG052_HUMAN			2	463	-			75			N-acetyltransferase.		B3KRS2|Q8NDR1	Silent	SNP	ENST00000300303.2	37	c.225C>T	CCDS5713.1																																																																																				0.692	NAT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347465.1	NM_198571		25	43	0	0	0	1	0	25	43				
HIST1H2BE	8344	broad.mit.edu	37	6	26184241	26184241	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:26184241G>A	ENST00000356530.3	+	1	284	c.218G>A	c.(217-219)cGc>cAc	p.R73H		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	73					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(1)	4						ATCTTCGAGCGCATCGCCGGC	0.597																																						ENST00000356530.3																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(217-219)cGc>cAc		histone cluster 1, H2be							119.0	116.0	117.0					6																	26184241		2203	4300	6503	SO:0001583	missense	8344				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26184241G>A	Z80780	CCDS4588.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197697	ENSG00000274290		"""Histones / Replication-dependent"""	4753	protein-coding gene	gene with protein product		602805	"""H2B histone family, member H"", ""histone 1, H2be"""	H2BFH		9119399, 12408966	Standard	NM_003523		Approved	H2B/h, H2B.h	uc003ngt.3	P62807	OTTHUMG00000014427	ENST00000356530.3:c.218G>A	6.37:g.26184241G>A	ENSP00000348924:p.Arg73His						p.R73H	NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN			1	284	+			73					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000356530.3	37	c.218G>A	CCDS4588.1	.	.	.	.	.	.	.	.	.	.	.	14.91	2.676040	0.47886	.	.	ENSG00000197697	ENST00000356530	T	0.69561	-0.41	4.96	4.96	0.65561	.	0.000000	0.34555	U	0.003862	T	0.73560	0.3602	.	.	.	0.52501	D	0.999953	.	.	.	.	.	.	T	0.74734	-0.3565	7	0.49607	T	0.09	.	17.6163	0.88068	0.0:0.0:1.0:0.0	.	.	.	.	H	73	ENSP00000348924:R73H	ENSP00000348924:R73H	R	+	2	0	HIST1H2BE	26292220	1.000000	0.71417	1.000000	0.80357	0.091000	0.18340	7.562000	0.82300	2.479000	0.83701	0.537000	0.68136	CGC		0.597	HIST1H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040090.1	NM_003523		6	228	0	0	0	1	0	6	228				
FLG	2312	broad.mit.edu	37	1	152284923	152284923	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:152284923G>A	ENST00000368799.1	-	3	2474	c.2439C>T	c.(2437-2439)agC>agT	p.S813S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	813	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTACTCCAGTGCTGGGCCCTG	0.572									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(2437-2439)agC>agT		filaggrin							252.0	243.0	246.0					1																	152284923		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152284923G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2439C>T	1.37:g.152284923G>A						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S813S	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2474	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		813			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.2439C>T	CCDS30860.1																																																																																				0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		7	476	0	0	0	1	0	7	476				
USP36	57602	broad.mit.edu	37	17	76794995	76794995	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:76794995C>T	ENST00000542802.3	-	19	3678	c.3235G>A	c.(3235-3237)Ggg>Agg	p.G1079R	USP36_ENST00000449938.2_Missense_Mutation_p.G684R|USP36_ENST00000312010.6_Missense_Mutation_p.G1079R			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	1077					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CATACCTTCCCTCGGTCAAAC	0.597																																						ENST00000312010.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34						c.(3235-3237)Ggg>Agg		ubiquitin specific peptidase 36							316.0	235.0	262.0					17																	76794995		2203	4300	6503	SO:0001583	missense	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76794995C>T	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.3235G>A	17.37:g.76794995C>T	ENSP00000441214:p.Gly1079Arg					USP36_ENST00000542802.2_Missense_Mutation_p.G1079R|USP36_ENST00000449938.2_Missense_Mutation_p.G684R	p.G1079R	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		19	3559	-			1077					Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Missense_Mutation	SNP	ENST00000542802.3	37	c.3235G>A	CCDS32755.1	.	.	.	.	.	.	.	.	.	.	c	21.6	4.170332	0.78452	.	.	ENSG00000055483	ENST00000312010;ENST00000449938;ENST00000542802	T;T;T	0.46063	0.88;0.88;0.88	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.65831	0.2729	M	0.74258	2.255	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.69495	-0.5130	10	0.87932	D	0	-23.9659	16.8481	0.85986	0.0:1.0:0.0:0.0	.	1079;684	Q9P275-2;E9PEW0	.;.	R	1079;684;1079	ENSP00000310590:G1079R;ENSP00000401119:G684R;ENSP00000441214:G1079R	ENSP00000310590:G1079R	G	-	1	0	USP36	74306590	1.000000	0.71417	0.980000	0.43619	0.394000	0.30568	6.390000	0.73204	2.509000	0.84616	0.552000	0.68991	GGG		0.597	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		50	229	0	0	0	1	0	50	229				
PYGM	5837	broad.mit.edu	37	11	64521111	64521111	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:64521111C>T	ENST00000164139.3	-	11	1681	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H	PYGM_ENST00000462303.1_5'Flank|PYGM_ENST00000377432.3_Missense_Mutation_p.R340H	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	428					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAGCGACATGCGCCGCAGCCG	0.687																																						ENST00000164139.3																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1282-1284)cGc>cAc		phosphorylase, glycogen, muscle	Pyridoxal Phosphate(DB00114)						30.0	23.0	25.0					11																	64521111		2196	4293	6489	SO:0001583	missense	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64521111C>T		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.1283G>A	11.37:g.64521111C>T	ENSP00000164139:p.Arg428His					PYGM_ENST00000377432.3_Missense_Mutation_p.R340H	p.R428H	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN			11	1681	-			428					A0AVK1|A6NDY6	Missense_Mutation	SNP	ENST00000164139.3	37	c.1283G>A	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184044	0.78677	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.94046	-3.21;-3.34	4.88	4.88	0.63580	.	0.097532	0.46442	D	0.000286	D	0.92870	0.7732	M	0.84773	2.715	0.80722	D	1	B;B	0.34161	0.439;0.147	B;B	0.25987	0.065;0.028	D	0.93276	0.6656	10	0.62326	D	0.03	-20.315	15.5631	0.76266	0.0:1.0:0.0:0.0	.	340;428	A6NDY6;P11217	.;PYGM_HUMAN	H	340;428;409	ENSP00000366650:R340H;ENSP00000164139:R428H	ENSP00000164139:R428H	R	-	2	0	PYGM	64277687	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	5.909000	0.69923	2.529000	0.85273	0.511000	0.50034	CGC		0.687	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		5	10	0	0	0	1	0	5	10				
ZIC1	7545	broad.mit.edu	37	3	147128227	147128227	+	Missense_Mutation	SNP	G	G	A	rs138004710	byFrequency	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:147128227G>A	ENST00000282928.4	+	1	1057	c.328G>A	c.(328-330)Gcg>Acg	p.A110T		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	110	Poly-Ala.				adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						TTTTGGCGACGCGGCGGCGGC	0.697													G|||	2	0.000399361	0.0	0.0029	5008	,	,		11167	0.0		0.0	False		,,,				2504	0.0					ENST00000282928.4																			0				central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						c.(328-330)Gcg>Acg		Zic family member 1							12.0	15.0	14.0					3																	147128227		2014	4166	6180	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128227G>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.328G>A	3.37:g.147128227G>A	ENSP00000282928:p.Ala110Thr						p.A110T	NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN			1	1057	+			110			Poly-Ala.		Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.328G>A	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.166567	0.38217	.	.	ENSG00000152977	ENST00000282928	T	0.37584	1.19	3.64	2.75	0.32379	.	0.158353	0.28908	N	0.013754	T	0.45994	0.1370	L	0.39020	1.185	0.48830	D	0.999717	D	0.76494	0.999	D	0.83275	0.996	T	0.26744	-1.0094	10	0.42905	T	0.14	.	10.6295	0.45527	0.0:0.0:0.8076:0.1924	.	110	Q15915	ZIC1_HUMAN	T	110	ENSP00000282928:A110T	ENSP00000282928:A110T	A	+	1	0	ZIC1	148610917	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	5.591000	0.67536	0.721000	0.32231	-0.347000	0.07816	GCG		0.697	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		21	10	0	0	0	1	0	21	10				
INTS8	55656	broad.mit.edu	37	8	95837161	95837161	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:95837161G>A	ENST00000523731.1	+	2	304	c.171G>A	c.(169-171)caG>caA	p.Q57Q	INTS8_ENST00000447247.1_Silent_p.Q57Q	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	57					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					TTTTGGAACAGGCTTCCAAAC	0.328																																						ENST00000523731.1																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28						c.(169-171)caG>caA		integrator complex subunit 8							58.0	59.0	59.0					8																	95837161		2203	4300	6503	SO:0001819	synonymous_variant	55656				snRNA processing	integrator complex	protein binding	g.chr8:95837161G>A	AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"""chromosome 8 open reading frame 52"""	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.171G>A	8.37:g.95837161G>A						INTS8_ENST00000447247.1_Silent_p.Q57Q	p.Q57Q	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN			2	304	+	Breast(36;1.05e-06)		57					B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Silent	SNP	ENST00000523731.1	37	c.171G>A	CCDS34925.1	.	.	.	.	.	.	.	.	.	.	G	8.855	0.945459	0.18356	.	.	ENSG00000164941	ENST00000521860	.	.	.	5.24	2.52	0.30459	.	.	.	.	.	T	0.58623	0.2135	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51857	-0.8652	4	.	.	.	0.0263	9.4245	0.38572	0.3095:0.0:0.6905:0.0	.	.	.	.	S	45	.	.	G	+	1	0	INTS8	95906337	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.245000	0.32790	0.380000	0.24823	0.563000	0.77884	GGC		0.328	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1	NM_017864		69	60	0	0	0	1	0	69	60				
NLRP8	126205	broad.mit.edu	37	19	56466043	56466043	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:56466043G>A	ENST00000291971.3	+	3	690	c.619G>A	c.(619-621)Gcc>Acc	p.A207T	NLRP8_ENST00000590542.1_Missense_Mutation_p.A207T	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	207	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CAAGACCGTGGCCATACAGGG	0.542																																						ENST00000291971.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(619-621)Gcc>Acc		NLR family, pyrin domain containing 8							86.0	74.0	78.0					19																	56466043		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56466043G>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.619G>A	19.37:g.56466043G>A	ENSP00000291971:p.Ala207Thr					NLRP8_ENST00000590542.1_Missense_Mutation_p.A207T	p.A207T	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	690	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	207			NACHT.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.619G>A	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	9.669	1.146102	0.21288	.	.	ENSG00000179709	ENST00000291971	T	0.79141	-1.24	2.04	0.246	0.15516	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.54287	0.1849	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.09377	0.002;0.004	T	0.45818	-0.9235	9	0.72032	D	0.01	.	3.8319	0.08877	0.3706:0.0:0.6294:0.0	.	207;207	Q86W28-2;Q86W28	.;NALP8_HUMAN	T	207	ENSP00000291971:A207T	ENSP00000291971:A207T	A	+	1	0	NLRP8	61157855	0.998000	0.40836	0.001000	0.08648	0.023000	0.10783	1.600000	0.36762	0.094000	0.17404	0.514000	0.50259	GCC		0.542	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		44	72	0	0	0	1	0	44	72				
HIRIP3	8479	broad.mit.edu	37	16	30005313	30005313	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:30005313G>T	ENST00000279392.3	-	4	1983	c.1153C>A	c.(1153-1155)Cgc>Agc	p.R385S	INO80E_ENST00000563197.1_5'Flank|HIRIP3_ENST00000566471.1_5'Flank|INO80E_ENST00000567705.1_5'Flank|INO80E_ENST00000567254.1_5'Flank|INO80E_ENST00000304516.7_5'Flank|HIRIP3_ENST00000564026.1_Intron	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	385					chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						TTGGAAGAGCGGTTCTTCCTC	0.602																																						ENST00000279392.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						c.(1153-1155)Cgc>Agc		HIRA interacting protein 3							83.0	77.0	79.0					16																	30005313		2197	4300	6497	SO:0001583	missense	8479				chromatin assembly or disassembly	nucleus	protein binding	g.chr16:30005313G>T	AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"""HIRA-interacting protein 3"""			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118	ENST00000279392.3:c.1153C>A	16.37:g.30005313G>T	ENSP00000279392:p.Arg385Ser					HIRIP3_ENST00000564026.1_Intron	p.R385S	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN			4	1983	-			385					H3BSR3|O75707|O75708	Missense_Mutation	SNP	ENST00000279392.3	37	c.1153C>A	CCDS10664.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047358	0.55110	.	.	ENSG00000149929	ENST00000279392	T	0.32515	1.45	5.52	3.36	0.38483	.	0.808218	0.10983	N	0.612533	T	0.28928	0.0718	L	0.29908	0.895	0.22754	N	0.99877	D	0.53619	0.961	P	0.46299	0.511	T	0.11131	-1.0600	10	0.51188	T	0.08	-4.1136	12.9772	0.58544	0.0:0.0:0.7688:0.2312	.	385	Q9BW71	HIRP3_HUMAN	S	385	ENSP00000279392:R385S	ENSP00000279392:R385S	R	-	1	0	HIRIP3	29912814	0.995000	0.38212	0.997000	0.53966	0.923000	0.55619	2.952000	0.49097	2.599000	0.87857	0.561000	0.74099	CGC		0.602	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609		16	50	1	0	1.52009e-12	1	1.77189e-12	16	50				
TENM3	55714	broad.mit.edu	37	4	183714543	183714543	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:183714543A>G	ENST00000511685.1	+	26	6841	c.6718A>G	c.(6718-6720)Acc>Gcc	p.T2240A	TENM3_ENST00000406950.2_Missense_Mutation_p.T2240A			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2240					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TTCTAGCAAAACCAGTCTAGG	0.453																																						ENST00000511685.1																			0											c.(6718-6720)Acc>Gcc		teneurin transmembrane protein 3							74.0	74.0	74.0					4																	183714543		1901	4119	6020	SO:0001583	missense	55714							g.chr4:183714543A>G	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.6718A>G	4.37:g.183714543A>G	ENSP00000424226:p.Thr2240Ala					TENM3_ENST00000406950.2_Missense_Mutation_p.T2240A	p.T2240A							26	6841	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.6718A>G	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	A	16.91	3.253334	0.59212	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.86432	-2.12;-2.12	4.46	4.46	0.54185	.	.	.	.	.	D	0.82632	0.5079	L	0.42686	1.345	0.48288	D	0.999622	B	0.22800	0.075	B	0.19946	0.027	T	0.79850	-0.1629	9	0.42905	T	0.14	.	13.9046	0.63826	1.0:0.0:0.0:0.0	.	2240	Q9P273	TEN3_HUMAN	A	2240	ENSP00000424226:T2240A;ENSP00000385276:T2240A	ENSP00000385276:T2240A	T	+	1	0	ODZ3	183951537	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.107000	0.94261	1.874000	0.54306	0.460000	0.39030	ACC		0.453	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			4	42	0	0	0	1	0	4	42				
KL	9365	broad.mit.edu	37	13	33628232	33628232	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr13:33628232A>G	ENST00000380099.3	+	2	1156	c.1148A>G	c.(1147-1149)cAc>cGc	p.H383R	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Missense_Mutation_p.H76R	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	383	Glycosyl hydrolase-1 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TTGGACCCTCACATGAAGTTC	0.408																																						ENST00000380099.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41						c.(1147-1149)cAc>cGc		klotho							172.0	178.0	176.0					13																	33628232		2203	4300	6503	SO:0001583	missense	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33628232A>G	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.1148A>G	13.37:g.33628232A>G	ENSP00000369442:p.His383Arg					KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Missense_Mutation_p.H76R	p.H383R	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	2	1156	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	383			Glycosyl hydrolase-1 1.		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	37	c.1148A>G	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	A	6.959	0.546862	0.13312	.	.	ENSG00000133116	ENST00000426690;ENST00000380099	T;T	0.29917	1.55;1.65	5.9	0.25	0.15535	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.554726	0.23012	N	0.052955	T	0.14700	0.0355	N	0.22421	0.69	0.29563	N	0.850496	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.003	T	0.28776	-1.0033	10	0.12103	T	0.63	-6.8898	5.4483	0.16548	0.6705:0.0:0.2127:0.1168	.	383;76	Q9UEF7;B3KUJ4	KLOT_HUMAN;.	R	76;383	ENSP00000399513:H76R;ENSP00000369442:H383R	ENSP00000369442:H383R	H	+	2	0	KL	32526232	0.983000	0.35010	0.422000	0.26621	0.850000	0.48378	2.873000	0.48475	-0.154000	0.11118	0.533000	0.62120	CAC		0.408	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			10	290	0	0	0	1	0	10	290				
ZNF175	7728	broad.mit.edu	37	19	52091373	52091373	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:52091373A>G	ENST00000262259.2	+	5	2147	c.1789A>G	c.(1789-1791)Aac>Gac	p.N597D	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	597					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GAAGGCCTTCAACGGCAGGTC	0.433																																						ENST00000262259.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1789-1791)Aac>Gac		zinc finger protein 175							105.0	113.0	110.0					19																	52091373		2203	4300	6503	SO:0001583	missense	7728				response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:52091373A>G	D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"""Zinc fingers, C2H2-type"", ""-"""	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.1789A>G	19.37:g.52091373A>G	ENSP00000262259:p.Asn597Asp					ZNF175_ENST00000436511.2_Intron	p.N597D	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)	5	2147	+		all_neural(266;0.0299)	597					A8K9H2	Missense_Mutation	SNP	ENST00000262259.2	37	c.1789A>G	CCDS12837.1	.	.	.	.	.	.	.	.	.	.	A	14.25	2.479457	0.44044	.	.	ENSG00000105497	ENST00000262259	T	0.07216	3.21	2.48	1.45	0.22620	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06962	0.0177	L	0.39467	1.215	0.36009	D	0.837953	P	0.42123	0.771	B	0.42282	0.382	T	0.39860	-0.9593	9	0.45353	T	0.12	.	2.1392	0.03770	0.595:0.0:0.1506:0.2544	.	597	Q9Y473	ZN175_HUMAN	D	597	ENSP00000262259:N597D	ENSP00000262259:N597D	N	+	1	0	ZNF175	56783185	0.000000	0.05858	0.318000	0.25279	0.928000	0.56348	-0.450000	0.06803	0.381000	0.24851	0.533000	0.62120	AAC		0.433	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147		27	162	0	0	0	1	0	27	162				
CYP39A1	51302	broad.mit.edu	37	6	46609912	46609912	+	Missense_Mutation	SNP	C	C	T	rs540612754		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:46609912C>T	ENST00000275016.2	-	2	504	c.301G>A	c.(301-303)Gtt>Att	p.V101I		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	101					bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	24-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033782)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)|steroid 7-alpha-hydroxylase activity (GO:0008387)		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						GTACGATAAACGATATTTTGC	0.333													C|||	1	0.000199681	0.0	0.0	5008	,	,		18907	0.001		0.0	False		,,,				2504	0.0					ENST00000275016.2																		EIF3K/CYP39A1(2)	0				NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						c.(301-303)Gtt>Att		cytochrome P450, family 39, subfamily A, polypeptide 1							67.0	69.0	69.0					6																	46609912		2203	4296	6499	SO:0001583	missense	51302				bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr6:46609912C>T	AF237982	CCDS4916.1, CCDS75465.1	6p21.1-p11.2	2008-02-05	2003-01-14		ENSG00000146233	ENSG00000146233		"""Cytochrome P450s"""	17449	protein-coding gene	gene with protein product		605994	"""cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1"""			10748047	Standard	NM_016593		Approved		uc003oyf.1	Q9NYL5	OTTHUMG00000014785	ENST00000275016.2:c.301G>A	6.37:g.46609912C>T	ENSP00000275016:p.Val101Ile						p.V101I	NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN			2	504	-			101					Q5VTT0|Q96FW5	Missense_Mutation	SNP	ENST00000275016.2	37	c.301G>A	CCDS4916.1	.	.	.	.	.	.	.	.	.	.	C	6.881	0.531985	0.13127	.	.	ENSG00000146233	ENST00000275016	T	0.68903	-0.36	4.7	-6.94	0.01633	.	0.432575	0.21632	N	0.071479	T	0.21718	0.0523	L	0.28400	0.85	0.09310	N	0.999999	B;B	0.26483	0.15;0.15	B;B	0.21360	0.034;0.034	T	0.16600	-1.0397	10	0.22706	T	0.39	0.085	9.5931	0.39559	0.0:0.4083:0.09:0.5017	.	101;101	B7Z786;Q9NYL5	.;CP39A_HUMAN	I	101	ENSP00000275016:V101I	ENSP00000275016:V101I	V	-	1	0	CYP39A1	46717871	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.600000	0.05693	-1.645000	0.01515	-0.251000	0.11542	GTT		0.333	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040787.1			20	32	0	0	0	1	0	20	32				
EGLN2	112398	broad.mit.edu	37	19	41307129	41307129	+	Missense_Mutation	SNP	C	C	T	rs140368149		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:41307129C>T	ENST00000593726.1	+	1	1680	c.652C>T	c.(652-654)Cgc>Tgc	p.R218C	EGLN2_ENST00000406058.2_Missense_Mutation_p.R218C|EGLN2_ENST00000594140.1_5'Flank|EGLN2_ENST00000303961.4_Missense_Mutation_p.R218C|CTC-490E21.12_ENST00000601627.1_5'Flank|RAB4B-EGLN2_ENST00000594136.1_3'UTR			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	218					cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|intracellular estrogen receptor signaling pathway (GO:0030520)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|positive regulation of protein catabolic process (GO:0045732)|regulation of cell growth (GO:0001558)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|oxygen sensor activity (GO:0019826)|peptidyl-proline 4-dioxygenase activity (GO:0031545)			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	ACGGGGTGGGCGCCTGCGAGA	0.682																																						ENST00000593726.1																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						c.(652-654)Cgc>Tgc		egl-9 family hypoxia-inducible factor 2	Vitamin C(DB00126)	C	CYS/ARG,CYS/ARG	0,4404		0,0,2202	50.0	54.0	52.0		652,652	4.1	1.0	19	dbSNP_134	52	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense	EGLN2	NM_053046.3,NM_080732.3	180,180	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	218/408,218/408	41307129	1,12999	2202	4298	6500	SO:0001583	missense	112398				cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity	g.chr19:41307129C>T	AJ310544	CCDS12567.1	19q13.2	2013-08-21	2013-08-21		ENSG00000269858	ENSG00000269858			14660	protein-coding gene	gene with protein product	"""HIF prolyl hydroxylase 1"""	606424	"""EGL nine (C.elegans) homolog 2"", ""egl nine homolog 2 (C. elegans)"""				Standard	NM_080732		Approved	PHD1, HIFPH1	uc002oph.3	Q96KS0		ENST00000593726.1:c.652C>T	19.37:g.41307129C>T	ENSP00000469686:p.Arg218Cys					RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000406058.2_Missense_Mutation_p.R218C|EGLN2_ENST00000303961.4_Missense_Mutation_p.R218C	p.R218C			Q96KS0	EGLN2_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		1	1680	+			218					A8K5S0|Q8WWY4|Q9BV14	Missense_Mutation	SNP	ENST00000593726.1	37	c.652C>T	CCDS12567.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.830995	0.71258	0.0	1.16E-4	ENSG00000171570	ENST00000303961;ENST00000406058	T;T	0.26067	1.76;1.76	4.05	4.05	0.47172	Prolyl 4-hydroxylase, alpha subunit (1);	0.077318	0.49916	D	0.000135	T	0.17450	0.0419	L	0.29908	0.895	0.52099	D	0.999949	B	0.27559	0.181	B	0.24848	0.056	T	0.04976	-1.0914	10	0.38643	T	0.18	-10.4218	9.5003	0.39013	0.3315:0.6685:0.0:0.0	.	218	Q96KS0	EGLN2_HUMAN	C	218	ENSP00000307080:R218C;ENSP00000385253:R218C	ENSP00000307080:R218C	R	+	1	0	EGLN2	45998969	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.981000	0.40628	2.263000	0.75096	0.591000	0.81541	CGC		0.682	EGLN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463218.1			64	103	0	0	0	1	0	64	103				
HAS3	3038	broad.mit.edu	37	16	69148807	69148807	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:69148807G>A	ENST00000306560.1	+	4	1456	c.1300G>A	c.(1300-1302)Gca>Aca	p.A434T	HAS3_ENST00000569188.1_Missense_Mutation_p.A434T|HAS3_ENST00000219322.3_Intron	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	434					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TCGGGGCAATGCAGAGATGAT	0.547																																						ENST00000306560.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16						c.(1300-1302)Gca>Aca		hyaluronan synthase 3							134.0	124.0	127.0					16																	69148807		2198	4300	6498	SO:0001583	missense	3038				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity	g.chr16:69148807G>A	BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.1300G>A	16.37:g.69148807G>A	ENSP00000304440:p.Ala434Thr					HAS3_ENST00000219322.3_Intron|HAS3_ENST00000569188.1_Missense_Mutation_p.A434T	p.A434T	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0694)	4	1456	+		Ovarian(137;0.101)	434					A8K5T5|Q8WTZ0|Q9NYP0	Missense_Mutation	SNP	ENST00000306560.1	37	c.1300G>A	CCDS10871.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282959	0.59867	.	.	ENSG00000103044	ENST00000306560	T	0.43294	0.95	6.07	6.07	0.98685	.	0.100749	0.64402	D	0.000001	T	0.39009	0.1062	L	0.40543	1.245	0.43531	D	0.995819	B	0.19706	0.038	B	0.14023	0.01	T	0.07712	-1.0758	10	0.27785	T	0.31	-1.541	20.2544	0.98414	0.0:0.0:1.0:0.0	.	434	O00219	HAS3_HUMAN	T	434	ENSP00000304440:A434T	ENSP00000304440:A434T	A	+	1	0	HAS3	67706308	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.277000	0.58939	2.885000	0.99019	0.655000	0.94253	GCA		0.547	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268898.2	NM_138612		68	120	0	0	0	1	0	68	120				
HIST1H2BM	8342	broad.mit.edu	37	6	27783013	27783013	+	Missense_Mutation	SNP	C	C	G	rs146702958		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:27783013C>G	ENST00000359465.4	+	1	192	c.192C>G	c.(190-192)aaC>aaG	p.N64K	HIST1H2AJ_ENST00000333151.3_5'Flank	NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	64					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						GAATCATGAACTCCTTCGTCA	0.557																																						ENST00000359465.4																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						c.(190-192)aaC>aaG		histone cluster 1, H2bm							168.0	156.0	160.0					6																	27783013		2203	4300	6503	SO:0001583	missense	8342				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27783013C>G	Z83738	CCDS4629.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000196374	ENSG00000273703		"""Histones / Replication-dependent"""	4750	protein-coding gene	gene with protein product		602802	"""H2B histone family, member E"", ""histone 1, H2bm"""	H2BFE		9439656, 12408966	Standard	NM_003521		Approved	H2B/e, dJ160A22.3	uc003njo.3	Q99879	OTTHUMG00000014489	ENST00000359465.4:c.192C>G	6.37:g.27783013C>G	ENSP00000352442:p.Asn64Lys						p.N64K	NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN			1	192	+			64					Q6NWQ3	Missense_Mutation	SNP	ENST00000359465.4	37	c.192C>G	CCDS4629.1	.	.	.	.	.	.	.	.	.	.	.	15.80	2.940716	0.52972	.	.	ENSG00000196374	ENST00000359465	T	0.21031	2.03	4.17	3.29	0.37713	Histone-fold (2);Histone core (1);	0.000000	0.64402	U	0.000007	T	0.38161	0.1030	H	0.97611	4.04	0.58432	D	0.999999	P	0.37176	0.586	P	0.46389	0.515	T	0.51849	-0.8653	10	0.72032	D	0.01	.	11.7415	0.51796	0.0:0.9115:0.0:0.0885	.	64	Q99879	H2B1M_HUMAN	K	64	ENSP00000352442:N64K	ENSP00000352442:N64K	N	+	3	2	HIST1H2BM	27890992	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	1.384000	0.34396	1.080000	0.41073	0.563000	0.77884	AAC		0.557	HIST1H2BM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040157.1	NM_003521		92	119	0	0	0	1	0	92	119				
SERINC1	57515	broad.mit.edu	37	6	122779664	122779664	+	Splice_Site	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:122779664C>A	ENST00000339697.4	-	2	286		c.e2+1			NM_020755.2	NP_065806.1	Q9NRX5	SERC1_HUMAN	serine incorporator 1						L-serine transport (GO:0015825)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		ACGAGACTAACCTTATTCAGT	0.323																																						ENST00000368454.1																			0				endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13						c.e4+1		serine incorporator 1							147.0	140.0	142.0					6																	122779664		2203	4300	6503	SO:0001630	splice_region_variant	57515				phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding	g.chr6:122779664C>A	AF087902	CCDS5125.1	6q22.32	2006-02-09	2005-10-14	2005-10-14	ENSG00000111897	ENSG00000111897			13464	protein-coding gene	gene with protein product		614548	"""tumor differentially expressed 2"""	TDE2		10637174	Standard	NM_020755		Approved	TMS-2, TDE1L, KIAA1253	uc003pyy.1	Q9NRX5	OTTHUMG00000015487	ENST00000339697.4:c.201+1G>T	6.37:g.122779664C>A						SERINC1_ENST00000339697.3_Splice_Site				Q9NRX5	SERC1_HUMAN		GBM - Glioblastoma multiforme(226;0.126)	4	531	-								B3KY69|E1P565|O75655|Q7Z2F5|Q8TAG1|Q9NTH8|Q9ULG7	Splice_Site	SNP	ENST00000339697.4	37		CCDS5125.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506365	0.85282	.	.	ENSG00000111897	ENST00000339697;ENST00000368454	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4352	0.94788	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SERINC1	122821363	1.000000	0.71417	0.993000	0.49108	0.912000	0.54170	7.687000	0.84139	2.661000	0.90470	0.650000	0.86243	.		0.323	SERINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042031.2	NM_020755	Intron	23	99	1	0	2.39556e-15	1	2.84473e-15	23	99				
PIK3R5	23533	broad.mit.edu	37	17	8791556	8791556	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:8791556C>T	ENST00000447110.1	-	10	1672	c.1548G>A	c.(1546-1548)acG>acA	p.T516T	PIK3R5_ENST00000584803.1_Silent_p.T516T|PIK3R5_ENST00000581552.1_Silent_p.T516T	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	516					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)	p.T516T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CAACACGTAGCGTGGAAGCCT	0.627																																					NSCLC(18;589 615 7696 20311 50332)	ENST00000447110.1																			1	Substitution - coding silent(1)	p.T516T(1)	endometrium(1)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						c.(1546-1548)acG>acA		phosphoinositide-3-kinase, regulatory subunit 5							69.0	68.0	69.0					17																	8791556		2203	4300	6503	SO:0001819	synonymous_variant	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8791556C>T	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.1548G>A	17.37:g.8791556C>T						PIK3R5_ENST00000581552.1_Silent_p.T516T|PIK3R5_ENST00000584803.1_Silent_p.T516T	p.T516T	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN			10	1672	-			516					B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Silent	SNP	ENST00000447110.1	37	c.1548G>A	CCDS11147.1																																																																																				0.627	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		28	97	0	0	0	1	0	28	97				
LPA	4018	broad.mit.edu	37	6	160969620	160969620	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:160969620C>A	ENST00000316300.5	-	31	5089	c.5045G>T	c.(5044-5046)aGc>aTc	p.S1682I	LPA_ENST00000447678.1_Missense_Mutation_p.S1682I			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4190	Kringle 15. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CCACCTGATGCTGGGGTCCAT	0.532																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(5044-5046)aGc>aTc		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						81.0	89.0	86.0					6																	160969620		2203	4300	6503	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160969620C>A	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.5045G>T	6.37:g.160969620C>A	ENSP00000321334:p.Ser1682Ile					LPA_ENST00000316300.5_Missense_Mutation_p.S1682I	p.S1682I	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	32	5165	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	4190			Kringle 15.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.5045G>T	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	c	8.202	0.798334	0.16397	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.67865	-0.29;-0.29	2.71	0.736	0.18307	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.65575	0.2704	M	0.77486	2.375	0.09310	N	1	D	0.71674	0.998	D	0.78314	0.991	T	0.52808	-0.8526	9	0.44086	T	0.13	.	4.4216	0.11482	0.0:0.5688:0.1915:0.2397	.	4190	P08519	APOA_HUMAN	I	1682	ENSP00000321334:S1682I;ENSP00000395608:S1682I	ENSP00000321334:S1682I	S	-	2	0	LPA	160889610	0.000000	0.05858	0.001000	0.08648	0.063000	0.16089	-0.122000	0.10627	0.032000	0.15435	0.436000	0.28706	AGC		0.532	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		74	86	1	0	3.76054e-38	1	4.72138e-38	74	86				
HEATR5A	25938	broad.mit.edu	37	14	31828251	31828251	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:31828251G>A	ENST00000389961.3	-	14	2065	c.2066C>T	c.(2065-2067)gCt>gTt	p.A689V	HEATR5A_ENST00000543095.2_Missense_Mutation_p.A695V|HEATR5A_ENST00000404677.3_Missense_Mutation_p.A695V|HEATR5A_ENST00000439348.1_Missense_Mutation_p.A689V|HEATR5A_ENST00000439727.1_Missense_Mutation_p.A402V			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	689										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)		TCTGAGGATAGCACAGAGGTT	0.428																																						ENST00000543095.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26						c.(2083-2085)gCt>gTt		HEAT repeat containing 5A							66.0	64.0	64.0					14																	31828251		1902	4124	6026	SO:0001583	missense	25938						binding	g.chr14:31828251G>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.2066C>T	14.37:g.31828251G>A	ENSP00000374611:p.Ala689Val					HEATR5A_ENST00000439348.1_Missense_Mutation_p.A689V|HEATR5A_ENST00000404677.3_Missense_Mutation_p.A695V|HEATR5A_ENST00000389961.3_Missense_Mutation_p.A689V|HEATR5A_ENST00000439727.1_Missense_Mutation_p.A402V	p.A695V	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)	15	2268	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		689					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37	c.2084C>T		.	.	.	.	.	.	.	.	.	.	G	8.330	0.826225	0.16749	.	.	ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	5.16	1.08	0.20341	Armadillo-type fold (1);	0.433220	0.24452	N	0.038411	T	0.41073	0.1143	N	0.21583	0.68	0.35670	D	0.813253	B;B;B	0.11235	0.001;0.004;0.0	B;B;B	0.17979	0.005;0.02;0.004	T	0.38351	-0.9665	10	0.06757	T	0.87	.	11.2601	0.49078	0.271:0.0:0.729:0.0	.	695;689;689	B5MC49;Q86XA9-2;Q86XA9	.;.;HTR5A_HUMAN	V	689;689;402;695;695	ENSP00000374611:A689V;ENSP00000405407:A689V;ENSP00000408681:A402V;ENSP00000437968:A695V;ENSP00000384646:A695V	ENSP00000374611:A689V	A	-	2	0	HEATR5A	30898002	0.843000	0.29541	0.987000	0.45799	0.938000	0.57974	2.770000	0.47662	0.254000	0.21573	0.467000	0.42956	GCT		0.428	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		21	94	0	0	0	1	0	21	94				
GRM1	2911	broad.mit.edu	37	6	146720454	146720454	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:146720454A>T	ENST00000282753.1	+	7	2514	c.2279A>T	c.(2278-2280)aAt>aTt	p.N760I	GRM1_ENST00000392299.2_Missense_Mutation_p.N760I|GRM1_ENST00000355289.4_Missense_Mutation_p.N760I|GRM1_ENST00000507907.1_Missense_Mutation_p.N760I|GRM1_ENST00000492807.2_Missense_Mutation_p.N760I|GRM1_ENST00000361719.2_Missense_Mutation_p.N760I			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	760					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		TTGGGCTACAATGGACTCCTC	0.517																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(2278-2280)aAt>aTt		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						140.0	134.0	136.0					6																	146720454		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146720454A>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2279A>T	6.37:g.146720454A>T	ENSP00000282753:p.Asn760Ile					GRM1_ENST00000361719.2_Missense_Mutation_p.N760I|GRM1_ENST00000282753.1_Missense_Mutation_p.N760I|GRM1_ENST00000355289.4_Missense_Mutation_p.N760I|GRM1_ENST00000507907.1_Missense_Mutation_p.N760I|GRM1_ENST00000492807.2_Missense_Mutation_p.N760I	p.N760I			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	8	2749	+		Ovarian(120;0.0387)	760					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.2279A>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	A	18.81	3.703336	0.68501	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31;-2.31	5.53	4.38	0.52667	GPCR, family 3, C-terminal (2);	0.039806	0.85682	D	0.000000	T	0.79493	0.4455	N	0.04335	-0.225	0.80722	D	1	P;D;P	0.89917	0.86;1.0;0.929	P;D;P	0.91635	0.535;0.999;0.614	D	0.85161	0.0992	10	0.62326	D	0.03	.	11.2643	0.49101	0.9282:0.0:0.0718:0.0	.	760;760;760	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	I	760	ENSP00000354896:N760I;ENSP00000376119:N760I;ENSP00000424095:N760I;ENSP00000282753:N760I;ENSP00000347437:N760I;ENSP00000425599:N760I	ENSP00000282753:N760I	N	+	2	0	GRM1	146762147	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	0.938000	0.37419	0.477000	0.44152	AAT		0.517	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		32	120	0	0	0	1	0	32	120				
MLST8	64223	broad.mit.edu	37	16	2258661	2258661	+	Intron	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:2258661C>A	ENST00000569417.1	+	8	1216				MLST8_ENST00000301724.10_Silent_p.A303A|MLST8_ENST00000397124.1_Intron|MLST8_ENST00000564088.1_Intron|MLST8_ENST00000565250.1_Intron|MLST8_ENST00000301725.7_Intron|MLST8_ENST00000382450.4_Intron	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)						epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of TOR signaling (GO:0032008)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac GTPase activity (GO:0032314)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				large_intestine(3)|lung(2)|skin(1)	6						CGGCGCTGGCCTCCAGAGCCA	0.711																																						ENST00000301724.10																			0				large_intestine(3)|lung(2)|skin(1)	6						c.(907-909)gcC>gcA		MTOR associated protein, LST8 homolog (S. cerevisiae)							35.0	43.0	40.0					16																	2258661		1924	4108	6032	SO:0001627	intron_variant	64223				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding	g.chr16:2258661C>A		CCDS10462.2, CCDS58409.1	16p13.3	2013-01-09			ENSG00000167965	ENSG00000167965		"""WD repeat domain containing"""	24825	protein-coding gene	gene with protein product	"""G protein beta subunit like"""	612190				12477932	Standard	NM_022372		Approved	Lst8, Pop3, GBL, GbetaL	uc002cpc.3	Q9BVC4	OTTHUMG00000128827	ENST00000569417.1:c.862+47C>A	16.37:g.2258661C>A						MLST8_ENST00000569417.1_Intron|MLST8_ENST00000564088.1_Intron|MLST8_ENST00000301725.7_Intron|MLST8_ENST00000565250.1_Intron|MLST8_ENST00000382450.4_Intron|MLST8_ENST00000397124.1_Intron	p.A303A			Q9BVC4	LST8_HUMAN			8	983	+			0					B3KMM4|B4DY00|D3DU88|Q5M800|Q86Y18|Q8WUI5|Q9HA66|Q9UJV6	Silent	SNP	ENST00000569417.1	37	c.909C>A	CCDS10462.2																																																																																				0.711	MLST8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250763.2	NM_022372		8	100	1	0	1.12685e-05	1	1.21419e-05	8	100				
POM121	9883	broad.mit.edu	37	7	72413825	72413825	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:72413825C>T	ENST00000434423.2	+	11	3293	c.3293C>T	c.(3292-3294)aCg>aTg	p.T1098M	POM121_ENST00000446813.1_Missense_Mutation_p.T833M|POM121_ENST00000395270.1_Missense_Mutation_p.T833M|POM121_ENST00000257622.4_Missense_Mutation_p.T833M|POM121_ENST00000358357.3_Missense_Mutation_p.T833M			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1098	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				TCACCCTTCACGTTTGGGGGT	0.642																																						ENST00000395270.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2497-2499)aCg>aTg		POM121 transmembrane nucleoporin							16.0	15.0	16.0					7																	72413825		2193	4249	6442	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72413825C>T	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.3293C>T	7.37:g.72413825C>T	ENSP00000405562:p.Thr1098Met					POM121_ENST00000257622.4_Missense_Mutation_p.T833M|POM121_ENST00000434423.2_Missense_Mutation_p.T1098M|POM121_ENST00000358357.3_Missense_Mutation_p.T833M|POM121_ENST00000446813.1_Missense_Mutation_p.T833M	p.T833M	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			14	3539	+		Lung NSC(55;0.163)	1098			Pore side (Potential).|Thr-rich.		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.2498C>T		.	.	.	.	.	.	.	.	.	.	C	3.778	-0.046321	0.07407	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.42	3.01	1.12	0.20585	.	0.182863	0.26390	N	0.024647	T	0.05777	0.0151	L	0.49350	1.555	0.23366	N	0.997826	P;P	0.41624	0.757;0.757	B;B	0.28709	0.093;0.093	T	0.33803	-0.9854	10	0.51188	T	0.08	.	6.4016	0.21642	0.0:0.756:0.0:0.244	.	833;1098	A8MXF9;Q96HA1	.;P121A_HUMAN	M	833;833;833;833;1098	ENSP00000393020:T833M;ENSP00000257622:T833M;ENSP00000378687:T833M;ENSP00000351124:T833M;ENSP00000405562:T1098M	ENSP00000257622:T833M	T	+	2	0	POM121	72051761	0.960000	0.32886	0.071000	0.20095	0.006000	0.05464	2.325000	0.43840	0.138000	0.18790	-0.525000	0.04345	ACG		0.642	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			9	26	0	0	0	1	0	9	26				
ASAP2	8853	broad.mit.edu	37	2	9437559	9437559	+	Silent	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:9437559A>G	ENST00000281419.3	+	3	670	c.330A>G	c.(328-330)gcA>gcG	p.A110A	ASAP2_ENST00000315273.4_Silent_p.A110A	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	110					positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						AGTTGACAGCACTTTTCAAAA	0.438																																						ENST00000281419.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						c.(328-330)gcA>gcG		ArfGAP with SH3 domain, ankyrin repeat and PH domain 2							98.0	86.0	90.0					2																	9437559		2203	4300	6503	SO:0001819	synonymous_variant	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9437559A>G	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.330A>G	2.37:g.9437559A>G						ASAP2_ENST00000315273.4_Silent_p.A110A	p.A110A	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN			3	670	+			110					D6W4Y8	Silent	SNP	ENST00000281419.3	37	c.330A>G	CCDS1661.1																																																																																				0.438	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		25	65	0	0	0	1	0	25	65				
OLFML1	283298	broad.mit.edu	37	11	7531294	7531294	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:7531294C>T	ENST00000329293.3	+	3	1478	c.1084C>T	c.(1084-1086)Ccc>Tcc	p.P362S	CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000528758.1_3'UTR|OLFML1_ENST00000530135.1_Missense_Mutation_p.P362S	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	362	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.					extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CTTGTTCTTCCCCAAGAGACC	0.502																																						ENST00000329293.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24						c.(1084-1086)Ccc>Tcc		olfactomedin-like 1							99.0	91.0	94.0					11																	7531294		2201	4296	6497	SO:0001583	missense	283298					extracellular region		g.chr11:7531294C>T	AY358591	CCDS7779.1	11p15	2008-02-05			ENSG00000183801	ENSG00000183801			24473	protein-coding gene	gene with protein product							Standard	NM_198474		Approved	UNQ564	uc001mfi.3	Q6UWY5	OTTHUMG00000165527	ENST00000329293.3:c.1084C>T	11.37:g.7531294C>T	ENSP00000332511:p.Pro362Ser					OLFML1_ENST00000530135.1_Missense_Mutation_p.P362S|OLFML1_ENST00000528758.1_3'UTR|CTD-2516F10.2_ENST00000530201.1_RNA	p.P362S	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN		Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	3	1478	+			362			Olfactomedin-like.		B4DP03|Q569G4	Missense_Mutation	SNP	ENST00000329293.3	37	c.1084C>T	CCDS7779.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051940	0.75960	.	.	ENSG00000183801	ENST00000530135;ENST00000329293	D;D	0.88741	-2.42;-2.42	5.51	4.6	0.57074	Olfactomedin-like (3);	0.055720	0.64402	D	0.000001	D	0.91439	0.7298	L	0.42744	1.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.91519	0.5233	10	0.59425	D	0.04	.	12.2299	0.54482	0.0:0.9171:0.0:0.0829	.	226;362	B4DN61;Q6UWY5	.;OLFL1_HUMAN	S	362	ENSP00000433455:P362S;ENSP00000332511:P362S	ENSP00000332511:P362S	P	+	1	0	OLFML1	7487870	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.771000	0.68881	1.329000	0.45376	0.563000	0.77884	CCC		0.502	OLFML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384656.1	NM_198474		51	89	0	0	0	1	0	51	89				
ZNF70	7621	broad.mit.edu	37	22	24087058	24087058	+	Silent	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr22:24087058G>T	ENST00000341976.3	-	2	730	c.270C>A	c.(268-270)ctC>ctA	p.L90L		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	90					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						TTTGTCCGAAGAGCTCATCAT	0.498																																						ENST00000341976.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						c.(268-270)ctC>ctA		zinc finger protein 70							161.0	150.0	153.0					22																	24087058		2203	4300	6503	SO:0001819	synonymous_variant	7621					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr22:24087058G>T	X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"""Zinc fingers, C2H2-type"""	13140	protein-coding gene	gene with protein product		194544	"""zinc finger protein 70 (Cos17)"""			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.270C>A	22.37:g.24087058G>T							p.L90L	NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN			2	730	-			90						Silent	SNP	ENST00000341976.3	37	c.270C>A	CCDS13812.1																																																																																				0.498	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319881.1	NM_021916		26	108	1	0	3.73148e-12	1	4.32305e-12	26	108				
PNPLA7	375775	broad.mit.edu	37	9	140396160	140396160	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:140396160C>T	ENST00000277531.4	-	14	1604	c.1418G>A	c.(1417-1419)gGc>gAc	p.G473D	PNPLA7_ENST00000406427.1_Missense_Mutation_p.G498D|PNPLA7_ENST00000371457.1_Missense_Mutation_p.G79D	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	473				FLHSDEHPGSSVASKSRKSVMVAEIPSTVSQHSESHTDETL ASRKSDAIFRAAKKDLLTLMKLEDSSLLDG -> LCLLPQC LGGLPPTDTSVYSSASSDCCGCSMPVLCIMGHKPHVTVDT (in Ref. 1; BAC86509). {ECO:0000305}.	lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CGCCACCCGGCCATCCAACAG	0.607																																						ENST00000406427.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1492-1494)gGc>gAc		patatin-like phospholipase domain containing 7							39.0	38.0	38.0					9																	140396160		2190	4285	6475	SO:0001583	missense	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140396160C>T	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.1418G>A	9.37:g.140396160C>T	ENSP00000277531:p.Gly473Asp					PNPLA7_ENST00000277531.4_Missense_Mutation_p.G473D|PNPLA7_ENST00000371457.1_Missense_Mutation_p.G79D	p.G498D	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	15	1829	-	all_cancers(76;0.126)		473					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	c.1493G>A	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	C	1.194	-0.634593	0.03584	.	.	ENSG00000130653	ENST00000371457;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T	0.70516	-0.49;0.3;0.3;0.31	5.2	4.09	0.47781	Cyclic nucleotide-binding-like (1);Cyclic nucleotide-binding domain (2);	0.168203	0.52532	D	0.000068	T	0.47985	0.1475	N	0.16743	0.435	0.80722	D	1	B;B	0.18310	0.027;0.009	B;B	0.17979	0.02;0.012	T	0.39333	-0.9619	10	0.07175	T	0.84	-29.8093	9.4129	0.38503	0.0:0.7763:0.0:0.2237	.	498;473	Q6ZV29-5;Q6ZV29	.;PLPL7_HUMAN	D	79;473;498;473;464	ENSP00000360512:G79D;ENSP00000277531:G473D;ENSP00000384610:G498D;ENSP00000400582:G464D	ENSP00000277531:G473D	G	-	2	0	PNPLA7	139515981	0.412000	0.25392	0.996000	0.52242	0.181000	0.23173	1.145000	0.31577	2.408000	0.81797	0.544000	0.68410	GGC		0.607	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		7	22	0	0	0	1	0	7	22				
DRG1	4733	broad.mit.edu	37	22	31829860	31829860	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr22:31829860C>A	ENST00000331457.4	+	9	1168	c.1007C>A	c.(1006-1008)gCt>gAt	p.A336D		NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	336					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|polysome (GO:0005844)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						CCATGCAGTGCTCTGGTCTGG	0.438																																						ENST00000331457.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						c.(1006-1008)gCt>gAt		developmentally regulated GTP binding protein 1							110.0	95.0	100.0					22																	31829860		2203	4300	6503	SO:0001583	missense	4733				multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding	g.chr22:31829860C>A	AJ005940	CCDS13897.1	22q12.2	2010-02-26	2001-11-28		ENSG00000185721	ENSG00000185721			3029	protein-coding gene	gene with protein product		603952	"""developmentally regulated GTP-binding protein 1"""	NEDD3		7929244, 1449490	Standard	NM_004147		Approved		uc003aku.3	Q9Y295	OTTHUMG00000030792	ENST00000331457.4:c.1007C>A	22.37:g.31829860C>A	ENSP00000329715:p.Ala336Asp						p.A336D	NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN			9	1168	+			336					B2RDS8|Q6FGP8|Q8WW69|Q9UGF2	Missense_Mutation	SNP	ENST00000331457.4	37	c.1007C>A	CCDS13897.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879441	0.91740	.	.	ENSG00000185721	ENST00000331457	T	0.38240	1.15	5.29	5.29	0.74685	TGS-like (1);TGS (1);	0.000000	0.85682	D	0.000000	T	0.78110	0.4232	H	0.99634	4.67	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.88051	0.2787	10	0.87932	D	0	-20.4253	16.4534	0.84003	0.0:1.0:0.0:0.0	.	336	Q9Y295	DRG1_HUMAN	D	336	ENSP00000329715:A336D	ENSP00000329715:A336D	A	+	2	0	DRG1	30159860	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	6.777000	0.75028	2.643000	0.89663	0.655000	0.94253	GCT		0.438	DRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075680.5	NM_004147		20	30	1	0	6.33239e-15	1	7.48851e-15	20	30				
SLBP	7884	broad.mit.edu	37	4	1701409	1701409	+	Missense_Mutation	SNP	T	T	C	rs201877572		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:1701409T>C	ENST00000489418.1	-	5	727	c.361A>G	c.(361-363)Atg>Gtg	p.M121V	SLBP_ENST00000488267.1_Missense_Mutation_p.M86V|SLBP_ENST00000429429.2_Missense_Mutation_p.M82V|SLBP_ENST00000318386.4_Missense_Mutation_p.M128V	NM_006527.2	NP_006518.1	Q14493	SLBP_HUMAN	stem-loop binding protein	121					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA transport (GO:0051028)|nuclear cell cycle DNA replication (GO:0033260)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone pre-mRNA 3'end processing complex (GO:0071204)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	histone pre-mRNA DCP binding (GO:0071208)|histone pre-mRNA stem-loop binding (GO:0071207)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(2)|lung(2)	5		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.0055)			ACAGTAGACATAGACTCCTTT	0.393																																						ENST00000489418.1																			0				endometrium(1)|large_intestine(2)|lung(2)	5						c.(361-363)Atg>Gtg		stem-loop binding protein		T	VAL/MET	0,4406		0,0,2203	102.0	95.0	97.0		361	-9.9	0.0	4		97	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLBP	NM_006527.2	21	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	121/271	1701409	1,13005	2203	4300	6503	SO:0001583	missense	7884				DNA replication involved in S phase|histone mRNA 3'-end processing|mRNA export from nucleus|regulation of S phase|termination of RNA polymerase II transcription	cytosol|histone pre-mRNA 3'end processing complex|nucleoplasm	histone pre-mRNA DCP binding|histone pre-mRNA stem-loop binding|protein binding	g.chr4:1701409T>C	Z71188	CCDS3350.1	4p16.3	2008-02-11	2008-02-11		ENSG00000163950	ENSG00000163950			10904	protein-coding gene	gene with protein product	"""histone binding protein"""	602422	"""stem-loop (histone) binding protein"""			9049306, 1338771	Standard	NM_006527		Approved	HBP	uc003gdi.1	Q14493	OTTHUMG00000089349	ENST00000489418.1:c.361A>G	4.37:g.1701409T>C	ENSP00000417686:p.Met121Val					SLBP_ENST00000318386.4_Missense_Mutation_p.M128V|SLBP_ENST00000429429.2_Missense_Mutation_p.M82V|SLBP_ENST00000488267.1_Missense_Mutation_p.M86V	p.M121V	NM_006527.2	NP_006518.1	Q14493	SLBP_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0055)		5	727	-		Breast(71;0.212)|all_epithelial(65;0.241)	121					B3KRJ5	Missense_Mutation	SNP	ENST00000489418.1	37	c.361A>G	CCDS3350.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.146|6.146	0.395071|0.395071	0.11638|0.11638	0.0|0.0	1.16E-4|1.16E-4	ENSG00000163950|ENSG00000163950	ENST00000429429;ENST00000489418;ENST00000460392;ENST00000318386;ENST00000488267|ENST00000480936	.|.	.|.	.|.	4.94|4.94	-9.86|-9.86	0.00473|0.00473	.|.	2.209180|.	0.01948|.	N|.	0.042387|.	T|T	0.09686|0.09686	0.0238|0.0238	N|N	0.01048|0.01048	-1.04|-1.04	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0;0.0|.	B;B;B;B;B|.	0.01281|.	0.0;0.0;0.0;0.0;0.0|.	T|T	0.42632|0.42632	-0.9440|-0.9440	9|5	0.22109|.	T|.	0.4|.	-15.1565|-15.1565	12.1922|12.1922	0.54278|0.54278	0.0771:0.0812:0.0:0.8417|0.0771:0.0812:0.0:0.8417	.|.	86;128;82;101;121|.	E7EUV9;F8W8D3;B3KRJ5;C9IY53;Q14493|.	.;.;.;.;SLBP_HUMAN|.	V|C	82;121;101;128;86|128	.|.	ENSP00000316490:M128V|.	M|Y	-|-	1|2	0|0	SLBP|SLBP	1671207|1671207	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.312000|0.312000	0.27988|0.27988	-2.151000|-2.151000	0.01289|0.01289	-2.237000|-2.237000	0.00712|0.00712	-1.150000|-1.150000	0.01838|0.01838	ATG|TAT		0.393	SLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203176.1	NM_006527		13	54	0	0	0	1	0	13	54				
TRIB3	57761	broad.mit.edu	37	20	376920	376920	+	Silent	SNP	G	G	A	rs61744723	byFrequency	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:376920G>A	ENST00000217233.3	+	4	1216	c.663G>A	c.(661-663)gcG>gcA	p.A221A	TRIB3_ENST00000422053.2_Silent_p.A248A	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	221	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of protein binding (GO:0032092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|regulation of glucose transport (GO:0010827)|regulation of MAP kinase activity (GO:0043405)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|transcription corepressor activity (GO:0003714)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase regulator activity (GO:0055106)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		ACAAGCACGCGTGCCCAGCCT	0.617													A|||	5	0.000998403	0.0038	0.0	5008	,	,		15944	0.0		0.0	False		,,,				2504	0.0				Melanoma(101;421 2374 19538)	ENST00000217233.3																			0				breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21						c.(661-663)gcG>gcA		tribbles pseudokinase 3		A		12,4394	824.4+/-416.5	0,12,2191	48.0	46.0	47.0		663	-10.4	0.0	20	dbSNP_129	47	0,8600		0,0,4300	no	coding-synonymous	TRIB3	NM_021158.3		0,12,6491	AA,AG,GG		0.0,0.2724,0.0923		221/359	376920	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	57761				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr20:376920G>A	AF250311	CCDS12997.1	20p13-p12.2	2013-10-03	2013-10-03	2004-05-04	ENSG00000101255	ENSG00000101255			16228	protein-coding gene	gene with protein product		607898	"""chromosome 20 open reading frame 97"", ""tribbles homolog 3 (Drosophila)"""	C20orf97		12791994, 16715410	Standard	XM_005260773		Approved	dJ1103G7.3, TRB3	uc002wdm.3	Q96RU7	OTTHUMG00000031627	ENST00000217233.3:c.663G>A	20.37:g.376920G>A						TRIB3_ENST00000422053.2_Silent_p.A248A	p.A221A	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)	4	1216	+		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)	221			Protein kinase.		Q53GU4|Q53ZW7|Q6I9Y9|Q8TAI6|Q9H5M8|Q9NUD2	Silent	SNP	ENST00000217233.3	37	c.663G>A	CCDS12997.1																																																																																				0.617	TRIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077441.2	NM_021158		6	74	0	0	0	1	0	6	74				
PRDM2	7799	broad.mit.edu	37	1	14106589	14106589	+	Missense_Mutation	SNP	G	G	A	rs200363632		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:14106589G>A	ENST00000235372.7	+	8	3155	c.2299G>A	c.(2299-2301)Ggg>Agg	p.G767R	PRDM2_ENST00000413440.1_Missense_Mutation_p.G566R|PRDM2_ENST00000343137.4_Missense_Mutation_p.G566R|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.G767R	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	767					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GACCGATGCCGGGCTGACTTC	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		19602	0.001		0.0	False		,,,				2504	0.0					ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(2299-2301)Ggg>Agg		PR domain containing 2, with ZNF domain							64.0	63.0	63.0					1																	14106589		2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14106589G>A	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.2299G>A	1.37:g.14106589G>A	ENSP00000235372:p.Gly767Arg					PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.G566R|PRDM2_ENST00000413440.1_Missense_Mutation_p.G566R|PRDM2_ENST00000311066.5_Missense_Mutation_p.G767R	p.G767R	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	3155	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	767					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.2299G>A	CCDS150.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	5.251	0.231782	0.09969	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01495	4.95;4.83;4.83;4.83	5.61	5.61	0.85477	.	0.681911	0.13854	N	0.358141	T	0.01061	0.0035	N	0.08118	0	0.09310	N	1	P;B;P;P	0.45531	0.78;0.245;0.78;0.86	B;B;B;B	0.20767	0.013;0.031;0.013;0.029	T	0.59161	-0.7506	10	0.44086	T	0.13	.	15.0332	0.71723	0.0:0.1427:0.8573:0.0	.	767;625;767;767	A8MW16;Q5THJ0;Q13029;Q13029-2	.;.;PRDM2_HUMAN;.	R	767;767;767;566;566	ENSP00000235372:G767R;ENSP00000312352:G767R;ENSP00000411103:G566R;ENSP00000341621:G566R	ENSP00000235372:G767R	G	+	1	0	PRDM2	13979176	0.001000	0.12720	0.007000	0.13788	0.114000	0.19823	1.136000	0.31467	2.793000	0.96121	0.655000	0.94253	GGG		0.522	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		5	94	0	0	0	1	0	5	94				
UBA3	9039	broad.mit.edu	37	3	69105798	69105798	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:69105798C>T	ENST00000361055.4	-	14	1102	c.1048G>A	c.(1048-1050)Ggg>Agg	p.G350R	UBA3_ENST00000415609.2_Missense_Mutation_p.G309R|CTD-2013N24.2_ENST00000595925.1_RNA|UBA3_ENST00000349511.4_Missense_Mutation_p.G336R|UBA3_ENST00000540295.1_Missense_Mutation_p.G173R	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	350					cellular protein modification process (GO:0006464)|endomitotic cell cycle (GO:0007113)|protein neddylation (GO:0045116)|proteolysis (GO:0006508)|regulation of cell cycle (GO:0051726)	cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|NEDD8 activating enzyme activity (GO:0019781)|protein heterodimerization activity (GO:0046982)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		GTATACAGCCCATCTACATCA	0.264																																						ENST00000361055.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(1048-1050)Ggg>Agg		ubiquitin-like modifier activating enzyme 3							111.0	113.0	112.0					3																	69105798		2201	4295	6496	SO:0001583	missense	9039				protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity	g.chr3:69105798C>T	AB012190	CCDS2909.1, CCDS2910.1	3p14.1	2013-09-26	2007-11-30	2007-11-30	ENSG00000144744	ENSG00000144744		"""Ubiquitin-like modifier activating enzymes"""	12470	protein-coding gene	gene with protein product	"""NEDD8-activating enzyme E1 catalytic subunit"", ""NEDD8-activating enzyme E1 subunit 2"""	603172	"""ubiquitin-activating enzyme E1C (homologous to yeast UBA3)"", ""ubiquitin-activating enzyme E1C (UBA3 homolog, yeast)"""	UBE1C		9694792	Standard	NM_003968		Approved	hUba3, NAE2	uc003dno.3	Q8TBC4	OTTHUMG00000154325	ENST00000361055.4:c.1048G>A	3.37:g.69105798C>T	ENSP00000354340:p.Gly350Arg					UBA3_ENST00000349511.4_Missense_Mutation_p.G336R|UBA3_ENST00000540295.1_Missense_Mutation_p.G173R|UBA3_ENST00000415609.2_Missense_Mutation_p.G309R	p.G350R	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)	14	1102	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	350					A6NLB5|A8K027|O76088|Q9NTU3	Missense_Mutation	SNP	ENST00000361055.4	37	c.1048G>A	CCDS2909.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.587077	0.86851	.	.	ENSG00000144744	ENST00000415609;ENST00000361055;ENST00000349511;ENST00000540295	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.92	5.92	0.95590	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.68796	0.3040	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.76135	-0.3070	10	0.87932	D	0	-12.0578	20.3812	0.98933	0.0:1.0:0.0:0.0	.	336;350	Q8TBC4-2;Q8TBC4	.;UBA3_HUMAN	R	309;350;336;173	ENSP00000400294:G309R;ENSP00000354340:G350R;ENSP00000340041:G336R;ENSP00000440085:G173R	ENSP00000340041:G336R	G	-	1	0	UBA3	69188488	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.744000	0.85034	2.822000	0.97130	0.650000	0.86243	GGG		0.264	UBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334839.1	NM_198195		106	34	0	0	0	1	0	106	34				
WDSUB1	151525	broad.mit.edu	37	2	160128239	160128239	+	Silent	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:160128239G>T	ENST00000409990.3	-	5	1000	c.744C>A	c.(742-744)tcC>tcA	p.S248S	WDSUB1_ENST00000358147.4_Intron|WDSUB1_ENST00000392796.3_Silent_p.S248S|WDSUB1_ENST00000359774.4_Silent_p.S248S|WDSUB1_ENST00000409124.1_Silent_p.S248S	NM_001128213.1	NP_001121685	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	248							ubiquitin-protein transferase activity (GO:0004842)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						GCCCATCATGGGAAAAAGCAC	0.373																																						ENST00000409990.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						c.(742-744)tcC>tcA		WD repeat, sterile alpha motif and U-box domain containing 1							98.0	106.0	104.0					2																	160128239		2203	4300	6503	SO:0001819	synonymous_variant	151525					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr2:160128239G>T	AK093494	CCDS2208.1	2q24.2	2013-01-28	2006-02-17	2005-03-25	ENSG00000196151	ENSG00000196151		"""WD repeat domain containing"", ""Sterile alpha motif (SAM) domain containing"", ""U-box domain containing"""	26697	protein-coding gene	gene with protein product			"""WD repeat and SAM domain containing 1"", ""WD repeat, SAM and U-box domain containing 1"""	WDSAM1		12477932	Standard	NM_152528		Approved	UBOX6, FLJ36175	uc002ual.4	Q8N9V3	OTTHUMG00000132028	ENST00000409990.3:c.744C>A	2.37:g.160128239G>T						WDSUB1_ENST00000359774.4_Silent_p.S248S|WDSUB1_ENST00000392796.3_Silent_p.S248S|WDSUB1_ENST00000358147.4_Intron|WDSUB1_ENST00000409124.1_Silent_p.S248S	p.S248S	NM_001128213.1	NP_001121685.1	Q8N9V3	WSDU1_HUMAN			5	1000	-			248					Q53TI9|Q8N6N8	Silent	SNP	ENST00000409990.3	37	c.744C>A	CCDS2208.1																																																																																				0.373	WDSUB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333339.1	NM_152528		25	42	1	0	3.69857e-22	1	4.50466e-22	25	42				
PIDD1	55367	broad.mit.edu	37	11	804233	804233	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:804233G>A	ENST00000347755.5	-	2	297	c.156C>T	c.(154-156)caC>caT	p.H52H	PIDD_ENST00000534649.1_5'UTR|PIDD_ENST00000411829.2_Silent_p.H52H	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2																					GGACACACAGGTGCAGCAGCT	0.662																																						ENST00000347755.5																			0											c.(154-156)caC>caT		p53-induced death domain protein							23.0	25.0	24.0					11																	804233		2201	4296	6497	SO:0001819	synonymous_variant	55367				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding	g.chr11:804233G>A																												ENST00000347755.5:c.156C>T	11.37:g.804233G>A						PIDD_ENST00000534649.1_5'UTR|PIDD_ENST00000411829.2_Silent_p.H52H	p.H52H	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN			2	297	-			52						Silent	SNP	ENST00000347755.5	37	c.156C>T	CCDS7716.1																																																																																				0.662	PIDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257103.1			12	60	0	0	0	1	0	12	60				
OR5I1	10798	broad.mit.edu	37	11	55703121	55703121	+	Silent	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:55703121G>T	ENST00000301532.3	-	1	755	c.756C>A	c.(754-756)atC>atA	p.I252I		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	252					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TCCCTTGGTAGATCGTCACTG	0.433																																						ENST00000301532.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(754-756)atC>atA		olfactory receptor, family 5, subfamily I, member 1							76.0	75.0	75.0					11																	55703121		2201	4296	6497	SO:0001819	synonymous_variant	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703121G>T	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.756C>A	11.37:g.55703121G>T							p.I252I	NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN			1	755	-			252					Q6IEU4	Silent	SNP	ENST00000301532.3	37	c.756C>A	CCDS7949.1																																																																																				0.433	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		22	17	1	0	2.21704e-12	1	2.57375e-12	22	17				
USP24	23358	broad.mit.edu	37	1	55545326	55545326	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:55545326C>T	ENST00000294383.6	-	60	7084	c.7085G>A	c.(7084-7086)gGc>gAc	p.G2362D	USP24_ENST00000407756.1_Missense_Mutation_p.G2202D	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2362					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CTTAAATATGCCAGGAGCTTT	0.458																																						ENST00000294383.6																			0				breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(7084-7086)gGc>gAc		ubiquitin specific peptidase 24							111.0	111.0	111.0					1																	55545326		1915	4108	6023	SO:0001583	missense	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55545326C>T	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.7085G>A	1.37:g.55545326C>T	ENSP00000294383:p.Gly2362Asp					USP24_ENST00000407756.1_Missense_Mutation_p.G2202D	p.G2362D	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN			60	7084	-			2362					Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	c.7085G>A	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	C	14.56	2.572521	0.45798	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.02498	4.27;4.28	4.9	4.9	0.64082	.	0.320528	0.27176	N	0.020561	T	0.05731	0.0150	L	0.40543	1.245	0.80722	D	1	D	0.58268	0.982	P	0.49637	0.617	T	0.58358	-0.7650	10	0.18276	T	0.48	.	18.4547	0.90715	0.0:1.0:0.0:0.0	.	2202	B7WPF4	.	D	2362;2202	ENSP00000294383:G2362D;ENSP00000385700:G2202D	ENSP00000294383:G2362D	G	-	2	0	USP24	55317914	1.000000	0.71417	0.850000	0.33497	0.224000	0.24922	6.763000	0.74955	2.417000	0.82017	0.467000	0.42956	GGC		0.458	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			11	92	0	0	0	1	0	11	92				
OPTC	26254	broad.mit.edu	37	1	203466160	203466160	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:203466160C>T	ENST00000367222.2	+	3	403	c.287C>T	c.(286-288)aCg>aTg	p.T96M		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	96	Ser/Thr-rich.				negative regulation of angiogenesis (GO:0016525)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			AAGAGCACTACGGCTCCAGGG	0.557																																						ENST00000367222.2																			0				breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20						c.(286-288)aCg>aTg		opticin							124.0	104.0	111.0					1																	203466160		2203	4300	6503	SO:0001583	missense	26254					proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr1:203466160C>T	AF161702	CCDS1439.1	1q31	2008-02-05			ENSG00000188770	ENSG00000188770			8158	protein-coding gene	gene with protein product	"""oculoglycan"""	605127				10636917	Standard	NM_014359		Approved		uc001gzu.1	Q9UBM4	OTTHUMG00000036100	ENST00000367222.2:c.287C>T	1.37:g.203466160C>T	ENSP00000356191:p.Thr96Met						p.T96M	NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		3	403	+			96			Ser/Thr-rich.		Q5T2G4	Missense_Mutation	SNP	ENST00000367222.2	37	c.287C>T	CCDS1439.1	.	.	.	.	.	.	.	.	.	.	C	6.462	0.453357	0.12283	.	.	ENSG00000188770	ENST00000367222;ENST00000448911	T;T	0.55588	0.51;0.54	4.4	-2.41	0.06562	.	3.783630	0.00984	N	0.003439	T	0.26122	0.0637	N	0.04508	-0.205	0.09310	N	1	B	0.14805	0.011	B	0.01281	0.0	T	0.07271	-1.0781	10	0.40728	T	0.16	2.3342	0.1318	0.00074	0.3173:0.1787:0.1607:0.3433	.	96	Q9UBM4	OPT_HUMAN	M	96	ENSP00000356191:T96M;ENSP00000399491:T96M	ENSP00000356191:T96M	T	+	2	0	OPTC	201732783	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.208000	0.03005	-0.558000	0.06118	-0.291000	0.09656	ACG		0.557	OPTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087964.1	NM_014359		36	52	0	0	0	1	0	36	52				
ENAH	55740	broad.mit.edu	37	1	225702506	225702506	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:225702506G>T	ENST00000366844.3	-	7	1461	c.1010C>A	c.(1009-1011)cCt>cAt	p.P337H	ENAH_ENST00000366843.2_Missense_Mutation_p.P337H|ENAH_ENST00000284563.6_Missense_Mutation_p.P584H	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	337	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|intracellular transport (GO:0046907)|neural tube closure (GO:0001843)|T cell receptor signaling pathway (GO:0050852)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)|synapse (GO:0045202)	WW domain binding (GO:0050699)			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		aggaggtggagggggccctgg	0.672																																						ENST00000366844.2																			0				NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(1009-1011)cCt>cAt		enabled homolog (Drosophila)							11.0	11.0	11.0					1																	225702506		2189	4272	6461	SO:0001583	missense	55740				axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding	g.chr1:225702506G>T	AK001635	CCDS31040.1, CCDS31041.1	1q32.2	2013-08-06			ENSG00000154380	ENSG00000154380			18271	protein-coding gene	gene with protein product	"""mammalian enabled"""	609061				1420303	Standard	XM_005273182		Approved	FLJ10773, NDPP1, MENA	uc001hpc.1	Q8N8S7	OTTHUMG00000037742	ENST00000366844.3:c.1010C>A	1.37:g.225702506G>T	ENSP00000355809:p.Pro337His					ENAH_ENST00000366843.2_Missense_Mutation_p.P337H|ENAH_ENST00000284563.6_Missense_Mutation_p.P584H	p.P337H	NM_001008493.1	NP_001008493.1	Q8N8S7	ENAH_HUMAN		GBM - Glioblastoma multiforme(131;0.19)	7	1461	-	Breast(184;0.206)		337			Pro-rich.		D0PQI2|Q502W5|Q5T5M7|Q5VTQ9|Q5VTR0|Q9NVF3|Q9UFB8	Missense_Mutation	SNP	ENST00000366844.3	37	c.1010C>A	CCDS31041.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.613325	0.66672	.	.	ENSG00000154380	ENST00000366844;ENST00000366843;ENST00000284563;ENST00000538194	T;T;D	0.83591	1.39;1.39;-1.74	5.18	4.26	0.50523	.	0.234457	0.36665	N	0.002466	D	0.90683	0.7077	M	0.82056	2.57	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.91591	0.5287	10	0.72032	D	0.01	-4.4561	13.5756	0.61873	0.0755:0.0:0.9245:0.0	.	337;337	Q8N8S7-2;Q8N8S7	.;ENAH_HUMAN	H	337;337;584;299	ENSP00000355809:P337H;ENSP00000355808:P337H;ENSP00000284563:P584H	ENSP00000284563:P584H	P	-	2	0	ENAH	223769129	1.000000	0.71417	0.496000	0.27539	0.986000	0.74619	6.000000	0.70678	1.203000	0.43233	0.579000	0.79373	CCT		0.672	ENAH-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357426.2	NM_018212		5	20	1	0	0.00116845	1	0.00121758	5	20				
BEST2	54831	broad.mit.edu	37	19	12864086	12864086	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:12864086C>T	ENST00000549706.1	+	3	489	c.165C>T	c.(163-165)acC>acT	p.T55T	BEST2_ENST00000553030.1_Silent_p.T55T|BEST2_ENST00000042931.1_Silent_p.T55T			Q8NFU1	BEST2_HUMAN	bestrophin 2	55					chloride transmembrane transport (GO:1902476)|membrane depolarization (GO:0051899)|sensory perception of smell (GO:0007608)	chloride channel complex (GO:0034707)|cilium (GO:0005929)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						TTGTGCTGACCGAAGGGCAGA	0.562																																						ENST00000549706.1																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						c.(163-165)acC>acT		bestrophin 2							144.0	135.0	138.0					19																	12864086		2019	4178	6197	SO:0001819	synonymous_variant	54831				membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity	g.chr19:12864086C>T	AF440756	CCDS42506.1	19p13.13	2014-08-12	2006-10-18	2006-10-18	ENSG00000039987	ENSG00000039987		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17107	protein-coding gene	gene with protein product		607335	"""vitelliform macular dystrophy 2-like 1"""	VMD2L1		12032738, 16912113	Standard	NM_017682		Approved	FLJ20132	uc002mux.3	Q8NFU1	OTTHUMG00000169293	ENST00000549706.1:c.165C>T	19.37:g.12864086C>T						BEST2_ENST00000553030.1_Silent_p.T55T|BEST2_ENST00000042931.1_Silent_p.T55T	p.T55T			Q8NFU1	BEST2_HUMAN			3	489	+			55					Q53YQ8|Q9NXP0	Silent	SNP	ENST00000549706.1	37	c.165C>T	CCDS42506.1																																																																																				0.562	BEST2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403343.1	NM_017682		18	103	0	0	0	1	0	18	103				
UTP6	55813	broad.mit.edu	37	17	30192412	30192412	+	Silent	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:30192412A>G	ENST00000261708.4	-	18	1746	c.1609T>C	c.(1609-1611)Ttg>Ctg	p.L537L		NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	537					rRNA processing (GO:0006364)	nucleolus (GO:0005730)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				AACTCTCTCAAAGCTCTCTCA	0.373																																						ENST00000261708.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21						c.(1609-1611)Ttg>Ctg		UTP6, small subunit (SSU) processome component, homolog (yeast)							124.0	119.0	121.0					17																	30192412		2203	4300	6503	SO:0001819	synonymous_variant	55813				rRNA processing	nucleolus	binding	g.chr17:30192412A>G	AF116631	CCDS11269.1	17q11.2	2010-06-24	2006-05-16	2006-05-16	ENSG00000108651	ENSG00000108651			18279	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated antigen 66"""		"""chromosome 17 open reading frame 40"""	C17orf40		10843809, 16138909	Standard	NM_018428		Approved	HCA66	uc002hgr.3	Q9NYH9	OTTHUMG00000132815	ENST00000261708.4:c.1609T>C	17.37:g.30192412A>G							p.L537L	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN			18	1746	-		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)	537					Q8IX96|Q96BL2|Q9NQ91	Silent	SNP	ENST00000261708.4	37	c.1609T>C	CCDS11269.1																																																																																				0.373	UTP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256265.2	NM_018428		5	99	0	0	0	1	0	5	99				
GJC1	10052	broad.mit.edu	37	17	42883140	42883140	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:42883140G>T	ENST00000426548.1	-	3	315	c.46C>A	c.(46-48)Cat>Aat	p.H16N	GJC1_ENST00000330514.4_Missense_Mutation_p.H16N|GJC1_ENST00000592524.1_Missense_Mutation_p.H16N|GJC1_ENST00000590758.1_Missense_Mutation_p.H16N	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	16					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle tissue development (GO:0048738)|cell development (GO:0048468)|cell-cell junction assembly (GO:0007043)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vasculogenesis (GO:0001570)|visual perception (GO:0007601)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion channel activity (GO:0005216)			NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				AATGTGGAATGGTTGTGAATC	0.433																																						ENST00000426548.1																			0				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19						c.(46-48)Cat>Aat		gap junction protein, gamma 1, 45kDa							55.0	47.0	49.0					17																	42883140		2203	4300	6503	SO:0001583	missense	10052				cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane		g.chr17:42883140G>T	U03493	CCDS11487.1	17q21.31	2008-02-04	2007-11-06	2007-11-06		ENSG00000182963		"""Ion channels / Gap junction proteins (connexins)"""	4280	protein-coding gene	gene with protein product	"""connexin 45"""	608655	"""gap junction protein, alpha 7, 45kDa"""	GJA7		7966354	Standard	NM_005497		Approved	CX45	uc002ihl.3	P36383		ENST00000426548.1:c.46C>A	17.37:g.42883140G>T	ENSP00000411528:p.His16Asn					GJC1_ENST00000590758.1_Missense_Mutation_p.H16N|GJC1_ENST00000330514.4_Missense_Mutation_p.H16N|GJC1_ENST00000592524.1_Missense_Mutation_p.H16N	p.H16N	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN			3	315	-		Prostate(33;0.0959)	16					B3KW68|Q4VAY0	Missense_Mutation	SNP	ENST00000426548.1	37	c.46C>A	CCDS11487.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.881574	0.72294	.	.	ENSG00000182963	ENST00000426548;ENST00000330514	D;D	0.99239	-5.61;-5.61	5.26	5.26	0.73747	Connexin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99375	0.9780	M	0.77406	2.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99174	1.0865	10	0.87932	D	0	.	17.8787	0.88833	0.0:0.0:1.0:0.0	.	16	P36383	CXG1_HUMAN	N	16	ENSP00000411528:H16N;ENSP00000333193:H16N	ENSP00000333193:H16N	H	-	1	0	GJC1	40238666	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.458000	0.83093	0.455000	0.32223	CAT		0.433	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448661.1	NM_005497		22	31	1	0	1.10923e-09	1	1.24706e-09	22	31				
PTPRC	5788	broad.mit.edu	37	1	198718660	198718660	+	Silent	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:198718660C>A	ENST00000367376.2	+	28	3219	c.3048C>A	c.(3046-3048)atC>atA	p.I1016I	PTPRC_ENST00000348564.6_Silent_p.I857I|PTPRC_ENST00000352140.3_Silent_p.I968I|PTPRC_ENST00000442510.2_Silent_p.I1018I|PTPRC_ENST00000594404.1_Silent_p.I855I	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1016	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GCAAATACATCAATGCATCTT	0.348																																						ENST00000367376.2																			0				breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(3046-3048)atC>atA		protein tyrosine phosphatase, receptor type, C							94.0	88.0	90.0					1																	198718660		2203	4300	6503	SO:0001819	synonymous_variant	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198718660C>A	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.3048C>A	1.37:g.198718660C>A						PTPRC_ENST00000594404.1_Silent_p.I855I|PTPRC_ENST00000352140.3_Silent_p.I968I|PTPRC_ENST00000348564.6_Silent_p.I857I|PTPRC_ENST00000442510.2_Silent_p.I1018I	p.I1016I	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN			28	3219	+			1016			Tyrosine-protein phosphatase 2.		A8K7W6|Q16614|Q9H0Y6	Silent	SNP	ENST00000367376.2	37	c.3048C>A																																																																																					0.348	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				7	67	1	0	0.00307968	1	0.00319167	7	67				
SH2B3	10019	broad.mit.edu	37	12	111884578	111884578	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:111884578G>A	ENST00000341259.2	+	3	1111	c.754G>A	c.(754-756)Gca>Aca	p.A252T	SH2B3_ENST00000538307.1_Missense_Mutation_p.A50T	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	252	PH.				blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic hemopoiesis (GO:0035162)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)	phosphate ion binding (GO:0042301)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10					Pazopanib(DB06589)	CAAGCTACAAGCAGCTTGCTC	0.517																																						ENST00000341259.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10						c.(754-756)Gca>Aca		SH2B adaptor protein 3							74.0	72.0	73.0					12																	111884578		2203	4300	6503	SO:0001583	missense	10019				blood coagulation	cytosol	signal transducer activity	g.chr12:111884578G>A	AF055581	CCDS9153.1	12q24.12	2014-09-17				ENSG00000111252		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	29605	protein-coding gene	gene with protein product	"""lymphocyte adaptor protein"""	605093				10799879	Standard	NM_005475		Approved	LNK, IDDM20	uc001tse.3	Q9UQQ2		ENST00000341259.2:c.754G>A	12.37:g.111884578G>A	ENSP00000345492:p.Ala252Thr					SH2B3_ENST00000538307.1_Missense_Mutation_p.A50T	p.A252T	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN			3	1111	+			252			PH.		B9EGG5|O95184	Missense_Mutation	SNP	ENST00000341259.2	37	c.754G>A	CCDS9153.1	.	.	.	.	.	.	.	.	.	.	G	5.033	0.191849	0.09547	.	.	ENSG00000111252	ENST00000341259;ENST00000551001;ENST00000538307	T;T	0.75477	-0.94;1.51	5.02	3.14	0.36123	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.408932	0.29403	N	0.012251	T	0.65913	0.2737	L	0.47716	1.5	0.09310	N	1	B;B;B	0.22800	0.036;0.075;0.024	B;B;B	0.29077	0.036;0.068;0.098	T	0.55205	-0.8177	10	0.35671	T	0.21	-22.2896	8.2128	0.31494	0.4005:0.0:0.5995:0.0	.	50;116;252	F5GYM4;Q59H48;Q9UQQ2	.;.;SH2B3_HUMAN	T	252;62;50	ENSP00000345492:A252T;ENSP00000440597:A50T	ENSP00000345492:A252T	A	+	1	0	SH2B3	110368961	0.000000	0.05858	0.128000	0.21923	0.209000	0.24338	0.414000	0.21164	0.486000	0.27676	0.462000	0.41574	GCA		0.517	SH2B3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404779.1	NM_005475		4	44	0	0	0	1	0	4	44				
KCNH4	23415	broad.mit.edu	37	17	40315821	40315821	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:40315821G>A	ENST00000264661.3	-	13	2612	c.2280C>T	c.(2278-2280)agC>agT	p.S760S	KCNH4_ENST00000607371.1_Silent_p.S760S	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	760					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CGCCCAAAAGGCTGACCAGGG	0.701																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(2278-2280)agC>agT		potassium voltage-gated channel, subfamily H (eag-related), member 4							11.0	12.0	12.0					17																	40315821		2143	4221	6364	SO:0001819	synonymous_variant	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40315821G>A	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.2280C>T	17.37:g.40315821G>A						KCNH4_ENST00000607371.1_Silent_p.S760S	p.S760S	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	13	2612	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	760						Silent	SNP	ENST00000264661.3	37	c.2280C>T	CCDS11420.1																																																																																				0.701	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		3	9	0	0	0	1	0	3	9				
HOXC10	3226	broad.mit.edu	37	12	54379591	54379591	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:54379591G>A	ENST00000303460.4	+	1	622	c.548G>A	c.(547-549)cGc>cAc	p.R183H	HOXC-AS3_ENST00000509870.1_RNA|HOXC-AS3_ENST00000513165.1_RNA|HOXC-AS3_ENST00000567780.1_RNA|HOXC-AS3_ENST00000514702.1_RNA|RP11-834C11.12_ENST00000513209.1_5'Flank	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	183					anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|neuromuscular process (GO:0050905)|positive regulation of cell proliferation (GO:0008284)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						CTCAACCCGCGCGCCGAACAT	0.642																																						ENST00000303460.4																			0				endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						c.(547-549)cGc>cAc		homeobox C10							30.0	34.0	33.0					12																	54379591		2203	4299	6502	SO:0001583	missense	3226				positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54379591G>A		CCDS8868.1	12q13.13	2011-06-20	2005-12-22		ENSG00000180818	ENSG00000180818		"""Homeoboxes / ANTP class : HOXL subclass"""	5122	protein-coding gene	gene with protein product		605560	"""homeo box C10"""	HOX3I		1358459	Standard	NM_017409		Approved		uc001sen.3	Q9NYD6	OTTHUMG00000160031	ENST00000303460.4:c.548G>A	12.37:g.54379591G>A	ENSP00000307321:p.Arg183His						p.R183H	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN			1	622	+			183					O15219|O15220|Q9BVD5	Missense_Mutation	SNP	ENST00000303460.4	37	c.548G>A	CCDS8868.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176621	0.78564	.	.	ENSG00000180818	ENST00000515593;ENST00000303460	D	0.92048	-2.96	4.57	4.57	0.56435	.	0.055692	0.64402	D	0.000001	D	0.92967	0.7762	M	0.64997	1.995	0.42926	D	0.994302	D	0.64830	0.994	P	0.51193	0.662	D	0.93736	0.7046	10	0.56958	D	0.05	.	16.4925	0.84206	0.0:0.0:1.0:0.0	.	183	Q9NYD6	HXC10_HUMAN	H	71;183	ENSP00000307321:R183H	ENSP00000307321:R183H	R	+	2	0	HOXC10	52665858	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.138000	0.58017	2.262000	0.75019	0.511000	0.50034	CGC		0.642	HOXC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358952.2			32	52	0	0	0	1	0	32	52				
POLG	5428	broad.mit.edu	37	15	89872299	89872299	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:89872299C>T	ENST00000268124.5	-	4	1231	c.898G>A	c.(898-900)Gcc>Acc	p.A300T	POLG_ENST00000442287.2_Missense_Mutation_p.A300T	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	300					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CCTGAGATGGCCATGTGCATG	0.597								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	ENST00000268124.5																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33						c.(898-900)Gcc>Acc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), gamma							78.0	66.0	70.0					15																	89872299		2200	4299	6499	SO:0001583	missense	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89872299C>T	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.898G>A	15.37:g.89872299C>T	ENSP00000268124:p.Ala300Thr					POLG_ENST00000442287.2_Missense_Mutation_p.A300T	p.A300T	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		4	1231	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		300					Q8NFM2|Q92515	Missense_Mutation	SNP	ENST00000268124.5	37	c.898G>A	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	C	37	6.141452	0.97320	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.93488	-3.23;-3.23	5.84	5.84	0.93424	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	D	0.97349	0.9133	M	0.91406	3.205	0.80722	D	1	D	0.69078	0.997	D	0.64042	0.921	D	0.97328	0.9948	10	0.59425	D	0.04	-21.3492	20.1346	0.98019	0.0:1.0:0.0:0.0	.	300	P54098	DPOG1_HUMAN	T	300	ENSP00000268124:A300T;ENSP00000399851:A300T	ENSP00000268124:A300T	A	-	1	0	POLG	87673303	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.765000	0.95021	0.655000	0.94253	GCC		0.597	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		10	33	0	0	0	1	0	10	33				
EIF3K	27335	broad.mit.edu	37	19	39114838	39114838	+	Splice_Site	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:39114838G>A	ENST00000538434.1	+	2	253		c.e2+1		EIF3K_ENST00000545173.2_Splice_Site|EIF3K_ENST00000592558.1_Splice_Site|EIF3K_ENST00000593149.1_Splice_Site|EIF3K_ENST00000248342.4_Splice_Site|EIF3K_ENST00000588934.1_Splice_Site|EIF3K_ENST00000593062.1_Splice_Site					eukaryotic translation initiation factor 3, subunit K										EIF3K/CYP39A1(2)	central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCAGGCACATGTATCCTTCCA	0.577																																						ENST00000545173.2																		EIF3K/CYP39A1(2)	0				central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8						c.e3+1		eukaryotic translation initiation factor 3, subunit K							65.0	57.0	60.0					19																	39114838		2203	4300	6503	SO:0001630	splice_region_variant	27335				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex|nucleus	protein binding|ribosome binding|translation initiation factor activity	g.chr19:39114838G>A	AB019392	CCDS12517.1, CCDS74360.1	19q13.2	2012-05-28	2007-07-27	2007-07-27	ENSG00000178982	ENSG00000178982			24656	protein-coding gene	gene with protein product		609596	"""eukaryotic translation initiation factor 3, subunit 12"""	EIF3S12		11042152, 14519125	Standard	XM_006723147		Approved	eIF3k, PRO1474, HSPC029, PTD001, PLAC-24, M9, ARG134	uc002oiz.1	Q9UBQ5		ENST00000538434.1:c.18+1G>A	19.37:g.39114838G>A						EIF3K_ENST00000592558.1_Splice_Site|EIF3K_ENST00000593149.1_Splice_Site|EIF3K_ENST00000588934.1_Splice_Site|EIF3K_ENST00000248342.4_Splice_Site|EIF3K_ENST00000593062.1_Splice_Site|EIF3K_ENST00000538434.1_Splice_Site				Q9UBQ5	EIF3K_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	355	+	all_cancers(60;6.42e-06)|Ovarian(47;0.103)								Splice_Site	SNP	ENST00000538434.1	37			.	.	.	.	.	.	.	.	.	.	g	19.50	3.839441	0.71488	.	.	ENSG00000178982	ENST00000248342;ENST00000538434;ENST00000545173	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9475	0.89043	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EIF3K	43806678	1.000000	0.71417	0.960000	0.40013	0.661000	0.39034	8.987000	0.93497	2.717000	0.92951	0.651000	0.88453	.		0.577	EIF3K-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000453409.1	NM_013234	Intron	7	48	0	0	0	1	0	7	48				
VPS13D	55187	broad.mit.edu	37	1	12409289	12409289	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:12409289C>T	ENST00000358136.3	+	46	9419	c.9289C>T	c.(9289-9291)Cgg>Tgg	p.R3097W	VPS13D_ENST00000356315.4_Missense_Mutation_p.R3072W	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)		CACTTCTTGGCGGCTACAGGC	0.488																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(9289-9291)Cgg>Tgg		vacuolar protein sorting 13 homolog D (S. cerevisiae)							141.0	140.0	140.0					1																	12409289		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12409289C>T	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.9289C>T	1.37:g.12409289C>T	ENSP00000350854:p.Arg3097Trp					VPS13D_ENST00000356315.4_Missense_Mutation_p.R3072W	p.R3097W	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)	46	9419	+	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)	3096						Missense_Mutation	SNP	ENST00000358136.3	37	c.9289C>T	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199468	0.79015	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.56444	0.47;0.46	5.88	3.96	0.45880	.	0.000000	0.85682	D	0.000000	T	0.63861	0.2547	L	0.44542	1.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71870	0.975;0.944	T	0.65450	-0.6165	10	0.66056	D	0.02	.	14.068	0.64844	0.3937:0.6063:0.0:0.0	.	3072;3096	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	W	3072;3097	ENSP00000348666:R3072W;ENSP00000350854:R3097W	ENSP00000348666:R3072W	R	+	1	2	VPS13D	12331876	0.994000	0.37717	1.000000	0.80357	0.995000	0.86356	0.325000	0.19628	0.768000	0.33290	0.655000	0.94253	CGG		0.488	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		66	86	0	0	0	1	0	66	86				
DCC	1630	broad.mit.edu	37	18	51013326	51013326	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr18:51013326A>G	ENST00000442544.2	+	26	4512	c.3896A>G	c.(3895-3897)cAg>cGg	p.Q1299R	DCC_ENST00000581580.1_Intron|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1299					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GGAAGAAGTCAGTGTAATGCA	0.453																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(3895-3897)cAg>cGg		deleted in colorectal carcinoma							87.0	81.0	83.0					18																	51013326		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:51013326A>G	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3896A>G	18.37:g.51013326A>G	ENSP00000389140:p.Gln1299Arg					DCC_ENST00000581580.1_Intron|RP11-671P2.1_ENST00000582064.1_RNA	p.Q1299R	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	26	4512	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1299						Missense_Mutation	SNP	ENST00000442544.2	37	c.3896A>G	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	A	16.91	3.253719	0.59212	.	.	ENSG00000187323	ENST00000442544	T	0.44083	0.93	5.66	5.66	0.87406	Neogenin, C-terminal (1);	0.642870	0.14968	N	0.287981	T	0.24699	0.0599	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.11329	0.006	T	0.10613	-1.0622	10	0.18276	T	0.48	-0.9668	13.4271	0.61032	1.0:0.0:0.0:0.0	.	1299	P43146	DCC_HUMAN	R	1299	ENSP00000389140:Q1299R	ENSP00000389140:Q1299R	Q	+	2	0	DCC	49267324	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.617000	0.74210	2.158000	0.67659	0.460000	0.39030	CAG		0.453	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		23	49	0	0	0	1	0	23	49				
TLN1	7094	broad.mit.edu	37	9	35712949	35712949	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:35712949C>A	ENST00000314888.9	-	27	3797	c.3444G>T	c.(3442-3444)caG>caT	p.Q1148H	TLN1_ENST00000540444.1_Missense_Mutation_p.Q1148H	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1148					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GTACAATGGCCTGCACTGCAG	0.617																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(3442-3444)caG>caT		talin 1							31.0	26.0	28.0					9																	35712949		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35712949C>A	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.3444G>T	9.37:g.35712949C>A	ENSP00000316029:p.Gln1148His					TLN1_ENST00000540444.1_Missense_Mutation_p.Q1148H	p.Q1148H	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		27	3797	-	all_epithelial(49;0.167)		1148					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.3444G>T	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.288094	0.59976	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.14893	2.47;2.47	5.62	1.65	0.23941	.	0.113108	0.64402	D	0.000006	T	0.14787	0.0357	L	0.58810	1.83	0.37254	D	0.906684	B	0.31174	0.311	B	0.28784	0.094	T	0.07102	-1.0790	10	0.62326	D	0.03	-4.8446	5.8412	0.18635	0.0:0.5928:0.1265:0.2806	.	1148	Q9Y490	TLN1_HUMAN	H	1148	ENSP00000316029:Q1148H;ENSP00000442981:Q1148H	ENSP00000316029:Q1148H	Q	-	3	2	TLN1	35702949	0.998000	0.40836	0.999000	0.59377	0.699000	0.40488	0.691000	0.25467	0.098000	0.17522	0.655000	0.94253	CAG		0.617	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		3	10	1	0	0.004672	1	0.00481562	3	10				
WWC3	55841	broad.mit.edu	37	X	10085539	10085539	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chrX:10085539G>A	ENST00000380861.4	+	11	1831	c.1440G>A	c.(1438-1440)ccG>ccA	p.P480P	WWC3_ENST00000454666.1_Silent_p.P480P	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	480					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GGGACTCGCCGCTGGCGCAGC	0.701																																						ENST00000380861.4																			0				NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						c.(1438-1440)ccG>ccA		WWC family member 3																																				SO:0001819	synonymous_variant	55841							g.chrX:10085539G>A	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.1440G>A	X.37:g.10085539G>A						WWC3_ENST00000454666.1_Silent_p.P480P	p.P480P	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN			11	1831	+			480					A8KA96|Q659C1|Q9BTQ1	Silent	SNP	ENST00000380861.4	37	c.1440G>A	CCDS14136.1																																																																																				0.701	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		17	2	0	0	0	1	0	17	2				
MPI	4351	broad.mit.edu	37	15	75185033	75185033	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:75185033C>T	ENST00000352410.4	+	4	444	c.377C>T	c.(376-378)cCg>cTg	p.P126L	MPI_ENST00000535694.1_Missense_Mutation_p.P76L|MPI_ENST00000563422.1_Missense_Mutation_p.P126L|MPI_ENST00000564003.1_Missense_Mutation_p.P76L|MPI_ENST00000563786.1_Missense_Mutation_p.P106L|MPI_ENST00000323744.6_Missense_Mutation_p.P126L|MPI_ENST00000566377.1_Missense_Mutation_p.P126L|MPI_ENST00000565576.1_Missense_Mutation_p.P126L|MPI_ENST00000562606.1_Missense_Mutation_p.P106L			P34949	MPI_HUMAN	mannose phosphate isomerase	126					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	mannose-6-phosphate isomerase activity (GO:0004476)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						CTCCAGGCTCCGCAGCACTAC	0.612																																						ENST00000352410.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						c.(376-378)cCg>cTg		mannose phosphate isomerase							57.0	52.0	54.0					15																	75185033		2197	4295	6492	SO:0001583	missense	4351				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding	g.chr15:75185033C>T		CCDS10272.1, CCDS73756.1, CCDS73757.1, CCDS73758.1	15q24.1	2013-09-19			ENSG00000178802	ENSG00000178802	5.3.1.8		7216	protein-coding gene	gene with protein product	"""mannose-6-phosphate isomerase"""	154550					Standard	NM_002435		Approved		uc002azc.1	P34949	OTTHUMG00000142826	ENST00000352410.4:c.377C>T	15.37:g.75185033C>T	ENSP00000318318:p.Pro126Leu					MPI_ENST00000564003.1_Missense_Mutation_p.P76L|MPI_ENST00000566377.1_Missense_Mutation_p.P126L|MPI_ENST00000562606.1_Missense_Mutation_p.P106L|MPI_ENST00000565576.1_Missense_Mutation_p.P126L|MPI_ENST00000535694.1_Missense_Mutation_p.P76L|MPI_ENST00000563786.1_Missense_Mutation_p.P106L|MPI_ENST00000323744.6_Missense_Mutation_p.P126L|MPI_ENST00000563422.1_Missense_Mutation_p.P126L	p.P126L			P34949	MPI_HUMAN			4	444	+			126					A8K8K9|Q96AB0	Missense_Mutation	SNP	ENST00000352410.4	37	c.377C>T	CCDS10272.1	.	.	.	.	.	.	.	.	.	.	C	34	5.401679	0.96030	.	.	ENSG00000178802	ENST00000352410;ENST00000535694;ENST00000379693;ENST00000323744	D;D;D	0.96830	-4.14;-4.14;-4.14	5.54	5.54	0.83059	Cupin, RmlC-type (1);RmlC-like jelly roll fold (1);	0.000000	0.85682	D	0.000000	D	0.98830	0.9605	H	0.96269	3.795	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.971;0.997;0.999;0.992;0.995	D	0.99601	1.0978	10	0.87932	D	0	.	18.467	0.90760	0.0:1.0:0.0:0.0	.	76;126;126;106;126	B4DYB8;B4DFC4;P34949-2;Q8NHZ6;P34949	.;.;.;.;MPI_HUMAN	L	126;76;106;126	ENSP00000318318:P126L;ENSP00000440447:P76L;ENSP00000318192:P126L	ENSP00000318192:P126L	P	+	2	0	MPI	72972086	1.000000	0.71417	0.996000	0.52242	0.959000	0.62525	7.650000	0.83521	2.604000	0.88044	0.591000	0.81541	CCG		0.612	MPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286418.4			36	30	0	0	0	1	0	36	30				
TOP2A	7153	broad.mit.edu	37	17	38568020	38568020	+	Silent	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:38568020A>G	ENST00000423485.1	-	8	998	c.840T>C	c.(838-840)gaT>gaC	p.D280D		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	280					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TACCAGTTTCATCCAACTTGT	0.338																																						ENST00000423485.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39						c.(838-840)gaT>gaC		topoisomerase (DNA) II alpha 170kDa	Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)						114.0	106.0	109.0					17																	38568020		1851	4094	5945	SO:0001819	synonymous_variant	7153				apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	g.chr17:38568020A>G		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.840T>C	17.37:g.38568020A>G							p.D280D	NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		8	998	-		Breast(137;0.00328)	280					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Silent	SNP	ENST00000423485.1	37	c.840T>C	CCDS45672.1																																																																																				0.338	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			11	80	0	0	0	1	0	11	80				
TRPV4	59341	broad.mit.edu	37	12	110252320	110252320	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:110252320C>T	ENST00000418703.2	-	1	376	c.282G>A	c.(280-282)tcG>tcA	p.S94S	TRPV4_ENST00000541794.1_Silent_p.S94S|TRPV4_ENST00000392719.2_Silent_p.S94S|TRPV4_ENST00000537083.1_Silent_p.S94S|TRPV4_ENST00000544971.1_Silent_p.S94S|TRPV4_ENST00000536838.1_Silent_p.S60S|TRPV4_ENST00000346520.2_Silent_p.S94S|TRPV4_ENST00000261740.2_Silent_p.S94S|TRPV4_ENST00000536570.1_5'Flank	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	94					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CAGGCACCACCGAGGACTCAT	0.577																																						ENST00000418703.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						c.(280-282)tcG>tcA		transient receptor potential cation channel, subfamily V, member 4							66.0	65.0	65.0					12																	110252320		2203	4300	6503	SO:0001819	synonymous_variant	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110252320C>T	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.282G>A	12.37:g.110252320C>T						TRPV4_ENST00000392719.2_Silent_p.S94S|TRPV4_ENST00000544971.1_Silent_p.S94S|TRPV4_ENST00000537083.1_Silent_p.S94S|TRPV4_ENST00000536838.1_Silent_p.S60S|TRPV4_ENST00000261740.2_Silent_p.S94S|TRPV4_ENST00000346520.2_Silent_p.S94S|TRPV4_ENST00000541794.1_Silent_p.S94S	p.S94S	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN			1	376	-			94					B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Silent	SNP	ENST00000418703.2	37	c.282G>A	CCDS9134.1																																																																																				0.577	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		11	41	0	0	0	1	0	11	41				
ILF2	3608	broad.mit.edu	37	1	153642700	153642700	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:153642700G>A	ENST00000361891.4	-	2	137	c.12C>T	c.(10-12)gaC>gaT	p.D4D	ILF2_ENST00000368681.1_Silent_p.D4D	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	4					immune response (GO:0006955)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACGGCCTCTGTCACCCCTAG	0.512																																						ENST00000361891.4																			0				cervix(1)|kidney(1)|lung(4)|skin(1)	7						c.(10-12)gaC>gaT		interleukin enhancer binding factor 2							100.0	104.0	103.0					1																	153642700		2203	4300	6503	SO:0001819	synonymous_variant	3608				immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity	g.chr1:153642700G>A	U10323	CCDS1050.1, CCDS72919.1	1q21.3	2012-12-04	2012-12-04		ENSG00000143621	ENSG00000143621			6037	protein-coding gene	gene with protein product		603181	"""interleukin enhancer binding factor 2, 45kD"", ""interleukin enhancer binding factor 2, 45kDa"""			7519613	Standard	NM_004515		Approved	NF45	uc001fcr.4	Q12905	OTTHUMG00000037087	ENST00000361891.4:c.12C>T	1.37:g.153642700G>A						ILF2_ENST00000368681.1_Silent_p.D4D	p.D4D	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	137	-	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		4					A6NDB0|B2R8G7|Q5SR10|Q5SR11|Q7L7R3|Q9BWD4|Q9P1N0	Silent	SNP	ENST00000361891.4	37	c.12C>T	CCDS1050.1																																																																																				0.512	ILF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090040.1	NM_004515		20	67	0	0	0	1	0	20	67				
CCT6P3	643180	broad.mit.edu	37	7	64530078	64530078	+	RNA	SNP	T	T	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:64530078T>A	ENST00000426828.1	+	0	898				SNORA15_ENST00000384334.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		TGAATTCTTTTGAGGACCTAA	0.408																																						ENST00000426828.1																			0																																																			643180							g.chr7:64530078T>A			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64530078T>A								NR_033416.1						0	898	+									RNA	SNP	ENST00000426828.1	37																																																																																						0.408	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			42	27	0	0	0	1	0	42	27				
ZNF33A	7581	broad.mit.edu	37	10	38306270	38306270	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:38306270A>G	ENST00000458705.2	+	4	364	c.206A>G	c.(205-207)gAg>gGg	p.E69G	ZNF33A_ENST00000476504.1_3'UTR|ZNF33A_ENST00000307441.9_Missense_Mutation_p.E69G|ZNF33A_ENST00000469037.2_Missense_Mutation_p.E69G|ZNF33A_ENST00000374618.3_Missense_Mutation_p.E69G|ZNF33A_ENST00000432900.2_Missense_Mutation_p.E76G			Q06730	ZN33A_HUMAN	zinc finger protein 33A	69	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						CAAGGAGAAGAGCCATGGAAA	0.433																																						ENST00000374618.3																			0				cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						c.(205-207)gAg>gGg		zinc finger protein 33A							157.0	153.0	154.0					10																	38306270		2203	4300	6503	SO:0001583	missense	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38306270A>G	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.206A>G	10.37:g.38306270A>G	ENSP00000387713:p.Glu69Gly					ZNF33A_ENST00000307441.9_Missense_Mutation_p.E69G|ZNF33A_ENST00000476504.1_3'UTR|ZNF33A_ENST00000469037.2_Missense_Mutation_p.E69G|ZNF33A_ENST00000458705.2_Missense_Mutation_p.E69G|ZNF33A_ENST00000432900.2_Missense_Mutation_p.E76G	p.E69G	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN			4	384	+			69			KRAB.		A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	c.206A>G	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	A	10.41	1.343411	0.24339	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000277672;ENST00000307441;ENST00000265892	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	3.58	2.32	0.28847	Krueppel-associated box (2);	.	.	.	.	T	0.53174	0.1780	L	0.60012	1.86	0.22989	N	0.998465	D;P;D;D	0.65815	0.965;0.944;0.978;0.995	P;P;P;D	0.65323	0.632;0.654;0.612;0.934	T	0.32025	-0.9922	9	0.66056	D	0.02	.	6.371	0.21481	0.7453:0.2547:0.0:0.0	.	76;69;69;69	F6TH33;Q9H5I4;Q06730;F8WAJ5	.;.;ZN33A_HUMAN;.	G	69;76;69;69;69;29	ENSP00000363747:E69G;ENSP00000402467:E76G;ENSP00000387713:E69G;ENSP00000304268:E69G	ENSP00000265892:E29G	E	+	2	0	ZNF33A	38346276	1.000000	0.71417	0.994000	0.49952	0.180000	0.23129	2.115000	0.41921	1.635000	0.50512	0.379000	0.24179	GAG		0.433	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		42	264	0	0	0	1	0	42	264				
ERICH3	127254	broad.mit.edu	37	1	75038930	75038930	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:75038930C>T	ENST00000326665.5	-	14	2682	c.2464G>A	c.(2464-2466)Gca>Aca	p.A822T	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		822	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AACTCTTCTGCCAATTCTGGC	0.572																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(2464-2466)Gca>Aca		chromosome 1 open reading frame 173							88.0	84.0	85.0					1																	75038930		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75038930C>T																												ENST00000326665.5:c.2464G>A	1.37:g.75038930C>T	ENSP00000322609:p.Ala822Thr					C1orf173_ENST00000433746.2_5'UTR	p.A822T	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	2682	-			822			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.2464G>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.431387	0.43122	.	.	ENSG00000178965	ENST00000326665	T	0.16196	2.36	5.68	4.75	0.60458	.	.	.	.	.	T	0.03220	0.0094	N	0.08118	0	0.58432	D	0.999999	P	0.39480	0.675	B	0.35413	0.202	T	0.40924	-0.9537	9	0.13853	T	0.58	-3.2329	15.4443	0.75216	0.0:0.8604:0.1396:0.0	.	822	Q5RHP9	CA173_HUMAN	T	822	ENSP00000322609:A822T	ENSP00000322609:A822T	A	-	1	0	C1orf173	74811518	0.000000	0.05858	0.005000	0.12908	0.004000	0.04260	-0.307000	0.08167	1.363000	0.46019	0.655000	0.94253	GCA		0.572	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			32	80	0	0	0	1	0	32	80				
SPECC1	92521	broad.mit.edu	37	17	20135612	20135612	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:20135612G>A	ENST00000261503.5	+	7	2296	c.2245G>A	c.(2245-2247)Gtg>Atg	p.V749M	SPECC1_ENST00000395527.4_Missense_Mutation_p.V749M|SPECC1_ENST00000472876.1_3'UTR|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000536879.1_Missense_Mutation_p.V89M|SPECC1_ENST00000395525.3_Missense_Mutation_p.V668M|SPECC1_ENST00000395530.2_Missense_Mutation_p.V668M|SPECC1_ENST00000395529.3_Missense_Mutation_p.V749M|SPECC1_ENST00000395522.2_Missense_Mutation_p.V668M|SPECC1_ENST00000584527.1_Missense_Mutation_p.V167M	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	749					cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		GCTGCGCACCGTGAAGAGGAA	0.637																																						ENST00000395530.2																			0				breast(1)|large_intestine(3)|ovary(4)	8						c.(2002-2004)Gtg>Atg		sperm antigen with calponin homology and coiled-coil domains 1							59.0	59.0	59.0					17																	20135612		2203	4300	6503	SO:0001583	missense	92521					nucleus		g.chr17:20135612G>A	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.2245G>A	17.37:g.20135612G>A	ENSP00000261503:p.Val749Met					SPECC1_ENST00000395522.2_Missense_Mutation_p.V668M|SPECC1_ENST00000395525.3_Missense_Mutation_p.V668M|SPECC1_ENST00000261503.5_Missense_Mutation_p.V749M|SPECC1_ENST00000536879.1_Missense_Mutation_p.V89M|SPECC1_ENST00000584527.1_Missense_Mutation_p.V167M|SPECC1_ENST00000395527.4_Missense_Mutation_p.V749M|SPECC1_ENST00000395529.3_Missense_Mutation_p.V749M|SPECC1_ENST00000472876.1_3'UTR|AC004702.2_ENST00000580225.1_lincRNA	p.V668M	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN		KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)	5	2210	+			749					B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	ENST00000261503.5	37	c.2002G>A	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.596154	0.66332	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000395529;ENST00000536879;ENST00000395522;ENST00000395527;ENST00000395525	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	4.11	4.11	0.48088	.	0.124595	0.56097	D	0.000034	T	0.65873	0.2733	M	0.67953	2.075	0.44000	D	0.9967	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.91635	0.971;0.999;0.999;0.999;0.928	T	0.69285	-0.5185	10	0.72032	D	0.01	-29.0125	14.6288	0.68640	0.0:0.0:1.0:0.0	.	749;668;668;749;749	A8MV89;Q5M775-4;Q5M775-3;Q5M775-2;Q5M775	.;.;.;.;CYTSB_HUMAN	M	749;749;749;89;668;668;668	ENSP00000261503:V749M;ENSP00000378900:V749M;ENSP00000438294:V89M;ENSP00000378893:V668M;ENSP00000378896:V668M	ENSP00000261503:V749M	V	+	1	0	SPECC1	20076204	1.000000	0.71417	0.990000	0.47175	0.939000	0.58152	3.938000	0.56583	2.576000	0.86940	0.655000	0.94253	GTG		0.637	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		43	56	0	0	0	1	0	43	56				
EIF2AK3	9451	broad.mit.edu	37	2	88885366	88885366	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:88885366G>T	ENST00000303236.3	-	9	1944	c.1643C>A	c.(1642-1644)cCt>cAt	p.P548H	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.P397H	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	548					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						TACCCTGTGAGGATGAGGATG	0.443																																					GBM(138;671 1851 16235 39058 45249)	ENST00000303236.3																			0				ovary(3)	3						c.(1642-1644)cCt>cAt		eukaryotic translation initiation factor 2-alpha kinase 3							121.0	108.0	112.0					2																	88885366		2203	4300	6503	SO:0001583	missense	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88885366G>T	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.1643C>A	2.37:g.88885366G>T	ENSP00000307235:p.Pro548His					EIF2AK3_ENST00000419748.1_Missense_Mutation_p.P397H	p.P548H	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN			9	1944	-			548					A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	37	c.1643C>A	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798688	0.70567	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.74002	-0.68;-0.62;-0.8	5.74	3.89	0.44902	.	0.168803	0.53938	N	0.000060	T	0.68320	0.2988	L	0.29908	0.895	0.35222	D	0.776127	D	0.63880	0.993	P	0.49999	0.628	T	0.70281	-0.4915	10	0.20046	T	0.44	-6.4438	13.5722	0.61853	0.0:0.0:0.7174:0.2825	.	548	Q9NZJ5	E2AK3_HUMAN	H	397;548;397;427	ENSP00000408325:P397H;ENSP00000307235:P548H;ENSP00000412076:P427H	ENSP00000307235:P548H	P	-	2	0	EIF2AK3	88666481	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.467000	0.53078	0.735000	0.32537	0.650000	0.86243	CCT		0.443	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		40	60	1	0	9.62906e-15	1	1.13635e-14	40	60				
DCHS1	8642	broad.mit.edu	37	11	6645101	6645101	+	Silent	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:6645101A>G	ENST00000299441.3	-	21	8217	c.7806T>C	c.(7804-7806)ttT>ttC	p.F2602F	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2602	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGCTCGGGTAAAGACAGGTG	0.572																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(7804-7806)ttT>ttC		dachsous cadherin-related 1							204.0	182.0	189.0					11																	6645101		2201	4296	6497	SO:0001819	synonymous_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6645101A>G	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.7806T>C	11.37:g.6645101A>G							p.F2602F	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	21	8217	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	2602			Cadherin 24.		O15098	Silent	SNP	ENST00000299441.3	37	c.7806T>C	CCDS7771.1																																																																																				0.572	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		26	311	0	0	0	1	0	26	311				
PCDH15	65217	broad.mit.edu	37	10	55780162	55780162	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:55780162G>A	ENST00000320301.6	-	20	2935	c.2541C>T	c.(2539-2541)gaC>gaT	p.D847D	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Silent_p.D810D|PCDH15_ENST00000373965.2_Silent_p.D854D|PCDH15_ENST00000395430.1_Silent_p.D847D|PCDH15_ENST00000414778.1_Silent_p.D852D|PCDH15_ENST00000373955.1_Silent_p.D847D|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Silent_p.D458D|PCDH15_ENST00000437009.1_Silent_p.D776D|PCDH15_ENST00000361849.3_Silent_p.D847D|PCDH15_ENST00000395433.1_Silent_p.D825D|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395445.1_Silent_p.D854D|PCDH15_ENST00000395438.1_Silent_p.D847D|PCDH15_ENST00000395440.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	847	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTGCTCCAAGGTCGACATCTT	0.398										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(2560-2562)gaC>gaT		protocadherin-related 15							129.0	130.0	129.0					10																	55780162		2203	4298	6501	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55780162G>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2541C>T	10.37:g.55780162G>A		HNSCC(58;0.16)				PCDH15_ENST00000395433.1_Silent_p.D825D|PCDH15_ENST00000395430.1_Silent_p.D847D|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Silent_p.D852D|PCDH15_ENST00000373955.1_Silent_p.D847D|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395438.1_Silent_p.D847D|PCDH15_ENST00000409834.1_Silent_p.D458D|PCDH15_ENST00000395432.2_Silent_p.D810D|PCDH15_ENST00000437009.1_Silent_p.D776D|PCDH15_ENST00000395445.1_Silent_p.D854D|PCDH15_ENST00000361849.3_Silent_p.D847D|PCDH15_ENST00000320301.6_Silent_p.D847D	p.D854D	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			21	2956	-		Melanoma(3;0.117)|Lung SC(717;0.238)	847			Cadherin 8.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.2562C>T	CCDS7248.1																																																																																				0.398	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		87	31	0	0	0	1	0	87	31				
MANSC1	54682	broad.mit.edu	37	12	12483053	12483053	+	Missense_Mutation	SNP	C	C	T	rs138511907		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:12483053C>T	ENST00000535902.1	-	4	1767	c.1204G>A	c.(1204-1206)Gtc>Atc	p.V402I	MANSC1_ENST00000396349.3_Missense_Mutation_p.V368I|MANSC1_ENST00000545735.1_Missense_Mutation_p.V321I			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	402						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		CCCAGGAGGACGAGGCCTATC	0.483													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18077	0.0		0.0	False		,,,				2504	0.0					ENST00000535902.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23						c.(1204-1206)Gtc>Atc		MANSC domain containing 1		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	87.0	87.0	87.0		1204	0.8	0.0	12	dbSNP_134	87	0,8600		0,0,4300	no	missense	MANSC1	NM_018050.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	402/432	12483053	1,13005	2203	4300	6503	SO:0001583	missense	54682					integral to membrane		g.chr12:12483053C>T	AK001160	CCDS8648.1	12p13.2	2006-04-12				ENSG00000111261			25505	protein-coding gene	gene with protein product						12975309	Standard	NM_018050		Approved	FLJ10298, LOH12CR3	uc001rai.1	Q9H8J5		ENST00000535902.1:c.1204G>A	12.37:g.12483053C>T	ENSP00000438205:p.Val402Ile					MANSC1_ENST00000545735.1_Missense_Mutation_p.V321I|MANSC1_ENST00000396349.3_Missense_Mutation_p.V368I	p.V402I			Q9H8J5	MANS1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.185)	4	1767	-		Prostate(47;0.0865)	402					Q8NEC1|Q9NW60	Missense_Mutation	SNP	ENST00000535902.1	37	c.1204G>A	CCDS8648.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	7.569	0.666372	0.14710	2.27E-4	0.0	ENSG00000111261	ENST00000535902;ENST00000396349;ENST00000355566;ENST00000545735	T;T;T	0.25250	2.12;2.06;1.81	5.24	0.813	0.18749	.	0.922003	0.08909	N	0.876154	T	0.29749	0.0743	L	0.54323	1.7	0.09310	N	1	D;P;P	0.67145	0.996;0.8;0.8	P;B;B	0.48738	0.588;0.068;0.068	T	0.21381	-1.0247	10	0.39692	T	0.17	-2.4618	8.1506	0.31139	0.0:0.6102:0.0:0.3898	.	336;368;402	B4DQ82;Q9NW60;Q9H8J5	.;.;MANS1_HUMAN	I	402;368;321;321	ENSP00000438205:V402I;ENSP00000379638:V368I;ENSP00000445303:V321I	ENSP00000347765:V321I	V	-	1	0	MANSC1	12374320	0.000000	0.05858	0.026000	0.17262	0.413000	0.31143	0.332000	0.19751	0.237000	0.21200	-0.333000	0.08304	GTC		0.483	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400144.1	NM_018050		33	42	0	0	0	1	0	33	42				
PGLYRP4	57115	broad.mit.edu	37	1	153303392	153303392	+	Missense_Mutation	SNP	C	C	T	rs146118434	byFrequency	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:153303392C>T	ENST00000359650.5	-	9	1037	c.973G>A	c.(973-975)Gca>Aca	p.A325T	RNU6-160P_ENST00000384591.1_RNA|PGLYRP4_ENST00000368739.3_Missense_Mutation_p.A321T	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	325					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCTTGGGCTGCCTCTAGTGCT	0.542													C|||	7	0.00139776	0.0008	0.0043	5008	,	,		18563	0.0		0.003	False		,,,				2504	0.0					ENST00000368739.3																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23						c.(961-963)Gca>Aca		peptidoglycan recognition protein 4		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	118.0	106.0	110.0		973	3.4	1.0	1	dbSNP_134	110	23,8577	17.3+/-56.4	0,23,4277	yes	missense	PGLYRP4	NM_020393.2	58	0,24,6479	TT,TC,CC		0.2674,0.0227,0.1845	probably-damaging	325/374	153303392	24,12982	2203	4300	6503	SO:0001583	missense	57115				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153303392C>T	AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I beta precursor"""	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.973G>A	1.37:g.153303392C>T	ENSP00000352672:p.Ala325Thr					PGLYRP4_ENST00000359650.5_Missense_Mutation_p.A325T	p.A321T			Q96LB8	PGRP4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		9	1319	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		325					A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Missense_Mutation	SNP	ENST00000359650.5	37	c.961G>A	CCDS30871.1	6	0.0027472527472527475	0	0.0	3	0.008287292817679558	0	0.0	3	0.00395778364116095	C	18.14	3.558681	0.65538	2.27E-4	0.002674	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.16597	2.33;2.33	3.36	3.36	0.38483	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.000000	0.53938	D	0.000059	T	0.26919	0.0659	M	0.73753	2.245	0.50039	D	0.999848	D;D	0.76494	0.998;0.999	D;D	0.68353	0.928;0.957	T	0.02093	-1.1215	10	0.49607	T	0.09	-13.3444	10.3696	0.44046	0.0:1.0:0.0:0.0	.	321;325	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	T	321;325	ENSP00000357728:A321T;ENSP00000352672:A325T	ENSP00000352672:A325T	A	-	1	0	PGLYRP4	151570016	0.550000	0.26489	0.994000	0.49952	0.976000	0.68499	1.359000	0.34113	1.825000	0.53177	0.455000	0.32223	GCA		0.542	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393		31	121	0	0	0	1	0	31	121				
MYPN	84665	broad.mit.edu	37	10	69966598	69966598	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:69966598A>G	ENST00000358913.5	+	19	4219	c.3731A>G	c.(3730-3732)tAc>tGc	p.Y1244C	MYPN_ENST00000540630.1_Missense_Mutation_p.Y1244C|MYPN_ENST00000354393.2_Missense_Mutation_p.Y969C	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1244	Ig-like 5.|Interaction with ACTN.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GCTGGATGGTACACGTTGTCA	0.468																																						ENST00000358913.5																			0				breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						c.(3730-3732)tAc>tGc		myopalladin							123.0	116.0	119.0					10																	69966598		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69966598A>G	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.3731A>G	10.37:g.69966598A>G	ENSP00000351790:p.Tyr1244Cys					MYPN_ENST00000354393.2_Missense_Mutation_p.Y969C|MYPN_ENST00000540630.1_Missense_Mutation_p.Y1244C	p.Y1244C	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN			19	4219	+			1244			Ig-like 5.|Interaction with ACTN.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.3731A>G	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.650577	0.87958	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	D;D;D	0.90504	-2.68;-2.68;-2.68	5.74	5.74	0.90152	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.97383	0.9144	H	0.98388	4.22	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	D	0.99019	1.0817	9	.	.	.	.	16.0354	0.80625	1.0:0.0:0.0:0.0	.	1244;969;1244	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	C	969;969;1244;1244	ENSP00000346369:Y969C;ENSP00000351790:Y1244C;ENSP00000441668:Y1244C	.	Y	+	2	0	MYPN	69636604	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	9.339000	0.96797	2.190000	0.69967	0.459000	0.35465	TAC		0.468	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		79	32	0	0	0	1	0	79	32				
ZNF284	342909	broad.mit.edu	37	19	44590835	44590835	+	Missense_Mutation	SNP	G	G	A	rs549267532		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:44590835G>A	ENST00000421176.3	+	5	1420	c.1204G>A	c.(1204-1206)Gac>Aac	p.D402N	ZNF223_ENST00000591793.1_3'UTR|RNU6-902P_ENST00000517212.1_RNA	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	402					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				ATTCAAGTGCGACGGATGTGG	0.433													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20711	0.0		0.0	False		,,,				2504	0.0					ENST00000421176.3																			0				NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15						c.(1204-1206)Gac>Aac		zinc finger protein 284							145.0	148.0	147.0					19																	44590835		2060	4217	6277	SO:0001583	missense	342909				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44590835G>A	AY166789	CCDS46099.1	19q13.32	2013-01-08				ENSG00000186026		"""Zinc fingers, C2H2-type"", ""-"""	13078	protein-coding gene	gene with protein product						12743021	Standard	NM_001037813		Approved	DKFZp781F1775	uc002oyg.1	Q2VY69		ENST00000421176.3:c.1204G>A	19.37:g.44590835G>A	ENSP00000411032:p.Asp402Asn					ZNF223_ENST00000591793.1_3'UTR	p.D402N	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN			5	1420	+		Prostate(69;0.0435)	402					Q86WM1	Missense_Mutation	SNP	ENST00000421176.3	37	c.1204G>A	CCDS46099.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.545170	0.27652	.	.	ENSG00000186026	ENST00000421176	T	0.19532	2.14	2.24	0.335	0.15953	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13415	0.0325	N	0.13043	0.29	0.09310	N	1	D	0.55800	0.973	P	0.54924	0.764	T	0.08269	-1.0730	9	0.06365	T	0.9	.	2.3203	0.04208	0.2845:0.0:0.3264:0.3891	.	402	Q2VY69	ZN284_HUMAN	N	402	ENSP00000411032:D402N	ENSP00000411032:D402N	D	+	1	0	ZNF284	49282675	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-5.104000	0.00151	-0.052000	0.13311	0.313000	0.20887	GAC		0.433	ZNF284-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460473.1	NM_001037813		14	150	0	0	0	1	0	14	150				
NEBL	10529	broad.mit.edu	37	10	21141501	21141501	+	Silent	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:21141501A>G	ENST00000377122.4	-	10	1377	c.981T>C	c.(979-981)caT>caC	p.H327H	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	327					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CATTGCCTTTATGGTGCAGAT	0.483																																						ENST00000377122.4																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(979-981)caT>caC		nebulette							145.0	105.0	119.0					10																	21141501		2203	4300	6503	SO:0001819	synonymous_variant	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21141501A>G	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.981T>C	10.37:g.21141501A>G						NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	p.H327H	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN			10	1377	-			327					B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Silent	SNP	ENST00000377122.4	37	c.981T>C	CCDS7134.1																																																																																				0.483	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		43	86	0	0	0	1	0	43	86				
MARCH2	51257	broad.mit.edu	37	19	8491643	8491643	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:8491643C>T	ENST00000602117.1	+	3	782	c.327C>T	c.(325-327)tgC>tgT	p.C109C	MARCH2_ENST00000381035.4_Silent_p.C109C|RP11-886P16.6_ENST00000595706.1_RNA|MARCH2_ENST00000215555.2_Silent_p.C109C|MARCH2_ENST00000393944.1_Silent_p.C109C|MARCH2_ENST00000601283.1_Intron			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	109					endocytosis (GO:0006897)|protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						GCGAGCTGTGCCACACGGAGT	0.607																																						ENST00000602117.1																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						c.(325-327)tgC>tgT		membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase							79.0	58.0	65.0					19																	8491643		2203	4300	6503	SO:0001819	synonymous_variant	51257				endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr19:8491643C>T	AF151074	CCDS12202.1, CCDS32894.1	19p13.2	2013-01-09	2012-02-23			ENSG00000099785		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	28038	protein-coding gene	gene with protein product		613332	"""membrane-associated ring finger (C3HC4) 2"""			11042152, 14722266	Standard	NM_016496		Approved	HSPC240, MARCH-II, RNF172	uc002mjw.3	Q9P0N8		ENST00000602117.1:c.327C>T	19.37:g.8491643C>T						MARCH2_ENST00000381035.4_Silent_p.C109C|MARCH2_ENST00000601283.1_Intron|RP11-886P16.6_ENST00000595706.1_RNA|MARCH2_ENST00000215555.2_Silent_p.C109C|MARCH2_ENST00000393944.1_Silent_p.C109C	p.C109C			Q9P0N8	MARH2_HUMAN			3	782	+			109					A6NP10|Q5H785|Q8N5A3|Q96B78	Silent	SNP	ENST00000602117.1	37	c.327C>T	CCDS12202.1																																																																																				0.607	MARCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460361.2	NM_016496		9	50	0	0	0	1	0	9	50				
ZRANB2	9406	broad.mit.edu	37	1	71536591	71536591	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:71536591C>T	ENST00000370920.3	-	7	903	c.602G>A	c.(601-603)cGa>cAa	p.R201Q	ZRANB2_ENST00000254821.6_Missense_Mutation_p.R201Q	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	201	Arg/Ser-rich.|Required for nuclear targeting.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						TGAGCGACTTCGTCTATTAGA	0.403																																						ENST00000370920.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						c.(601-603)cGa>cAa		zinc finger, RAN-binding domain containing 2							239.0	224.0	229.0					1																	71536591		2203	4300	6503	SO:0001583	missense	9406				mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:71536591C>T	AF065391	CCDS659.1, CCDS660.1	1p31	2008-02-05	2006-06-28	2006-06-28	ENSG00000132485	ENSG00000132485		"""Zinc fingers, RAN-binding domain containing"""	13058	protein-coding gene	gene with protein product		604347	"""zinc finger protein 265"""	ZNF265		9931435	Standard	NM_005455		Approved	ZIS, ZIS1, ZIS2	uc001dft.3	O95218	OTTHUMG00000009660	ENST00000370920.3:c.602G>A	1.37:g.71536591C>T	ENSP00000359958:p.Arg201Gln					ZRANB2_ENST00000254821.6_Missense_Mutation_p.R201Q	p.R201Q	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN			7	903	-			201			Arg/Ser-rich.|Required for nuclear targeting.		D3DQ75|Q53GS3|Q59F92|Q5VV33|Q5VV34|Q8IXN6|Q9UP63	Missense_Mutation	SNP	ENST00000370920.3	37	c.602G>A	CCDS659.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364950	0.61513	.	.	ENSG00000132485	ENST00000370920;ENST00000254821	T;T	0.64618	-0.11;-0.1	5.76	4.83	0.62350	.	0.189634	0.46758	N	0.000272	T	0.25606	0.0623	N	0.14661	0.345	0.40238	D	0.977922	B;B	0.10296	0.002;0.003	B;B	0.04013	0.0;0.001	T	0.11591	-1.0581	10	0.15066	T	0.55	.	14.2874	0.66254	0.0:0.9258:0.0:0.0742	.	201;201	O95218;O95218-2	ZRAB2_HUMAN;.	Q	201	ENSP00000359958:R201Q;ENSP00000254821:R201Q	ENSP00000254821:R201Q	R	-	2	0	ZRANB2	71309179	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.745000	0.55119	1.508000	0.48769	0.650000	0.86243	CGA		0.403	ZRANB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026636.1	NM_203350		66	49	0	0	0	1	0	66	49				
GPR152	390212	broad.mit.edu	37	11	67220087	67220087	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:67220087C>A	ENST00000312457.2	-	1	113	c.109G>T	c.(109-111)Gtg>Ttg	p.V37L	CABP4_ENST00000542025.2_3'UTR|CABP4_ENST00000325656.5_5'Flank|CABP4_ENST00000438189.2_5'UTR	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			AGCAGGGCCACCAGGAAGACC	0.667																																					Pancreas(102;800 1581 2723 7382 33622)	ENST00000312457.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(109-111)Gtg>Ttg		G protein-coupled receptor 152							36.0	37.0	37.0					11																	67220087		2199	4289	6488	SO:0001583	missense	390212					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:67220087C>A	AY255600	CCDS8165.1	11q13.2	2013-09-20			ENSG00000175514	ENSG00000175514		"""GPCR / Class A : Orphans"""	23622	protein-coding gene	gene with protein product						12679517	Standard	NM_206997		Approved	PGR5	uc001olm.3	Q8TDT2	OTTHUMG00000168032	ENST00000312457.2:c.109G>T	11.37:g.67220087C>A	ENSP00000310255:p.Val37Leu					CABP4_ENST00000438189.2_5'UTR|CABP4_ENST00000542025.2_3'UTR	p.V37L	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		1	113	-			37					Q0VD88|Q86SM0	Missense_Mutation	SNP	ENST00000312457.2	37	c.109G>T	CCDS8165.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492108	0.64074	.	.	ENSG00000175514	ENST00000312457	T	0.32023	1.47	5.28	4.37	0.52481	.	0.000000	0.35970	N	0.002869	T	0.17874	0.0429	N	0.24115	0.695	0.80722	D	1	B	0.21606	0.058	B	0.18871	0.023	T	0.06991	-1.0796	10	0.15066	T	0.55	.	8.883	0.35387	0.1693:0.6674:0.1633:0.0	.	37	Q8TDT2	GP152_HUMAN	L	37	ENSP00000310255:V37L	ENSP00000310255:V37L	V	-	1	0	GPR152	66976663	0.568000	0.26635	1.000000	0.80357	0.880000	0.50808	1.020000	0.30027	1.452000	0.47756	0.561000	0.74099	GTG		0.667	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397623.1			6	17	1	0	0.0215528	1	0.0218207	6	17				
MARK1	4139	broad.mit.edu	37	1	220754423	220754423	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:220754423T>C	ENST00000366917.4	+	3	538	c.272T>C	c.(271-273)aTa>aCa	p.I91T	MARK1_ENST00000402574.1_5'UTR|MARK1_ENST00000366918.4_Missense_Mutation_p.I91T					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GTGAAAATAATAGACAAAACT	0.234																																						ENST00000366918.4																			0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63						c.(271-273)aTa>aCa		MAP/microtubule affinity-regulating kinase 1							19.0	20.0	20.0					1																	220754423		2102	4137	6239	SO:0001583	missense	4139				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:220754423T>C	AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.272T>C	1.37:g.220754423T>C	ENSP00000355884:p.Ile91Thr					MARK1_ENST00000366917.4_Missense_Mutation_p.I91T|MARK1_ENST00000472121.1_3'UTR|MARK1_ENST00000402574.1_5'UTR	p.I91T			Q9P0L2	MARK1_HUMAN		GBM - Glioblastoma multiforme(131;0.0407)	3	869	+			91			Protein kinase.			Missense_Mutation	SNP	ENST00000366917.4	37	c.272T>C	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	T	20.9	4.063411	0.76187	.	.	ENSG00000116141	ENST00000366918;ENST00000366917	T;T	0.28255	1.62;1.62	5.89	4.73	0.59995	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.60766	0.2294	M	0.88842	2.985	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.993	T	0.68891	-0.5289	10	0.87932	D	0	.	13.3217	0.60436	0.0:0.0:0.1313:0.8687	.	91;91;91	B4DIB3;Q9P0L2;Q9P0L2-3	.;MARK1_HUMAN;.	T	91	ENSP00000355885:I91T;ENSP00000355884:I91T	ENSP00000355884:I91T	I	+	2	0	MARK1	218821046	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.966000	0.70395	2.246000	0.74042	0.533000	0.62120	ATA		0.234	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1			16	55	0	0	0	1	0	16	55				
CD44	960	broad.mit.edu	37	11	35218339	35218339	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:35218339G>A	ENST00000428726.2	+	6	837	c.714G>A	c.(712-714)agG>agA	p.R238R	CD44_ENST00000433892.2_Intron|CD44_ENST00000415148.2_Intron|CD44_ENST00000526669.2_Intron|CD44_ENST00000433354.2_Silent_p.R238R|CD44_ENST00000278386.6_Intron|CD44_ENST00000434472.2_Intron|CD44_ENST00000449691.2_Silent_p.R238R|CD44_ENST00000352818.4_Intron|CD44_ENST00000437706.2_Silent_p.R238R|CD44_ENST00000263398.6_Intron|CD44_ENST00000360158.4_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	238	Stem.				blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	CAACCAAGAGGCAAGAAACCT	0.373																																						ENST00000428726.2																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23						c.(712-714)agG>agA		CD44 molecule (Indian blood group)	Hyaluronidase(DB00070)						117.0	102.0	107.0					11																	35218339		2202	4298	6500	SO:0001819	synonymous_variant	960				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity	g.chr11:35218339G>A	M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"""CD molecules"", ""Blood group antigens"", ""Proteoglycans / Cell surface : Other"""	1681	protein-coding gene	gene with protein product	"""hematopoietic cell E- and L-selectin ligand"", ""chondroitin sulfate proteoglycan 8"""	107269	"""CD44 antigen (homing function and Indian blood group system)"""	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.714G>A	11.37:g.35218339G>A						CD44_ENST00000434472.2_Intron|CD44_ENST00000433892.2_Intron|CD44_ENST00000437706.2_Silent_p.R238R|CD44_ENST00000433354.2_Silent_p.R238R|CD44_ENST00000360158.4_Intron|CD44_ENST00000352818.4_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000263398.6_Intron|CD44_ENST00000526669.2_Intron|CD44_ENST00000415148.2_Intron|CD44_ENST00000449691.2_Silent_p.R238R	p.R238R	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		6	837	+	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	238			Stem.		A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Silent	SNP	ENST00000428726.2	37	c.714G>A	CCDS7897.1	.	.	.	.	.	.	.	.	.	.	G	0.101	-1.152009	0.01700	.	.	ENSG00000026508	ENST00000525685	.	.	.	5.04	2.91	0.33838	.	.	.	.	.	T	0.47857	0.1468	.	.	.	0.38120	D	0.937817	.	.	.	.	.	.	T	0.46091	-0.9216	4	.	.	.	-20.1873	4.9006	0.13773	0.3076:0.0:0.6924:0.0	.	.	.	.	D	106	.	.	G	+	2	0	CD44	35174915	0.812000	0.29077	0.273000	0.24645	0.012000	0.07955	0.659000	0.24994	1.102000	0.41551	-0.136000	0.14681	GGC		0.373	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	NM_000610		16	87	0	0	0	1	0	16	87				
C16orf91	283951	broad.mit.edu	37	16	1478413	1478413	+	Splice_Site	SNP	C	C	T	rs141111870	byFrequency	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:1478413C>T	ENST00000310355.1	-	2	237	c.238G>A	c.(238-240)Gct>Act	p.A80T				Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	0						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						ATTTCCTCACCCTTGGCGTCC	0.697													C|||	2	0.000399361	0.0015	0.0	5008	,	,		14252	0.0		0.0	False		,,,				2504	0.0					ENST00000310355.1																			0				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.e2+1		chromosome 16 open reading frame 91		C	THR/ALA	7,4381	12.9+/-30.5	0,7,2187	37.0	36.0	36.0		238	0.6	0.0	16	dbSNP_134	36	0,8594		0,0,4297	yes	missense-near-splice	C16orf91	NM_001010878.1	58	0,7,6484	TT,TC,CC		0.0,0.1595,0.0539		80/357	1478413	7,12975	2194	4297	6491	SO:0001630	splice_region_variant	283951					integral to membrane		g.chr16:1478413C>T	BC023590	CCDS61789.1	16p13.3	2012-10-10			ENSG00000174109	ENSG00000174109			27558	protein-coding gene	gene with protein product	"""cattle cerebrum and skeletal muscle-specific protein 1 family member"""						Standard	NM_001272051		Approved	gs103, CCSMST1	uc002clr.4	Q4G0I0		ENST00000310355.1:c.238+1G>A	16.37:g.1478413C>T							p.A80_splice			Q4G0I0	CSMT1_HUMAN			2	237	-			0					Q96RZ0	Splice_Site	SNP	ENST00000310355.1	37	c.238_splice	CCDS32360.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	11.24	1.580811	0.28180	0.001595	0.0	ENSG00000174109	ENST00000310355	.	.	.	0.597	0.597	0.17504	.	.	.	.	.	T	0.32071	0.0817	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27400	-1.0075	3	.	.	.	.	.	.	.	.	.	.	.	T	80	.	.	A	-	1	0	C16orf91	1418414	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	-0.182000	0.09726	0.567000	0.29293	0.313000	0.20887	GCT		0.697	C16orf91-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001010878	Missense_Mutation	5	28	0	0	0	1	0	5	28				
SETD1A	9739	broad.mit.edu	37	16	30978857	30978857	+	Silent	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:30978857C>A	ENST00000262519.8	+	10	3404	c.2718C>A	c.(2716-2718)gcC>gcA	p.A906A		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	906	Glu-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TTTCCGAGGCCAGTGAGGAAA	0.572																																						ENST00000262519.8																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(2716-2718)gcC>gcA		SET domain containing 1A							84.0	77.0	79.0					16																	30978857		2197	4300	6497	SO:0001819	synonymous_variant	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30978857C>A	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.2718C>A	16.37:g.30978857C>A							p.A906A	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			10	3404	+			906			Glu-rich.		A6NP62|Q6PIF3|Q8TAJ6	Silent	SNP	ENST00000262519.8	37	c.2718C>A	CCDS32435.1																																																																																				0.572	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		59	237	1	0	1.31171e-36	1	1.63963e-36	59	237				
PPP1R15B	84919	broad.mit.edu	37	1	204380267	204380267	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:204380267C>T	ENST00000367188.4	-	1	652	c.273G>A	c.(271-273)atG>atA	p.M91I	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	91					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			TGGTCGGAAACATTCCACCGA	0.562																																						ENST00000367188.4																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34						c.(271-273)atG>atA		protein phosphatase 1, regulatory subunit 15B							67.0	73.0	71.0					1																	204380267		2203	4300	6503	SO:0001583	missense	84919				regulation of translation			g.chr1:204380267C>T	AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14951	protein-coding gene	gene with protein product		613257	"""protein phosphatase 1, regulatory (inhibitor) subunit 15B"""			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.273G>A	1.37:g.204380267C>T	ENSP00000356156:p.Met91Ile					RP11-739N20.2_ENST00000443515.1_RNA	p.M91I	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)		1	652	-	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		91					Q53GQ4|Q658M2|Q6P156|Q96SN1	Missense_Mutation	SNP	ENST00000367188.4	37	c.273G>A	CCDS1445.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.512900	0.27123	.	.	ENSG00000158615	ENST00000367188;ENST00000543650	T	0.17213	2.29	5.12	3.22	0.36961	Protein phosphatase 1, regulatory subunit 15B, N-terminal (1);	0.635159	0.13706	N	0.368462	T	0.17408	0.0418	L	0.59436	1.845	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.16012	-1.0417	10	0.72032	D	0.01	0.6293	7.2131	0.25945	0.0:0.8001:0.0:0.1999	.	91	Q5SWA1	PR15B_HUMAN	I	91;1	ENSP00000356156:M91I	ENSP00000356156:M91I	M	-	3	0	PPP1R15B	202646890	0.016000	0.18221	0.047000	0.18901	0.216000	0.24613	0.611000	0.24268	1.281000	0.44480	0.655000	0.94253	ATG		0.562	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087974.1	NM_032833		5	173	0	0	0	1	0	5	173				
SUSD3	203328	broad.mit.edu	37	9	95840266	95840266	+	Missense_Mutation	SNP	G	G	A	rs369578788		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:95840266G>A	ENST00000375472.3	+	3	452	c.416G>A	c.(415-417)cGc>cAc	p.R139H	SUSD3_ENST00000375469.1_Missense_Mutation_p.R126H	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN	sushi domain containing 3	139						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						AAGCGGCGGCGCTCCAACAGG	0.602																																						ENST00000375472.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						c.(415-417)cGc>cAc		sushi domain containing 3		G	HIS/ARG	0,4406		0,0,2203	111.0	96.0	101.0		416	2.1	0.0	9		101	1,8599	1.2+/-3.3	0,1,4299	no	missense	SUSD3	NM_145006.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	139/256	95840266	1,13005	2203	4300	6503	SO:0001583	missense	203328					integral to membrane		g.chr9:95840266G>A	AK128289	CCDS6701.1, CCDS69620.1, CCDS75857.1	9q22.32	2004-01-29			ENSG00000157303	ENSG00000157303			28391	protein-coding gene	gene with protein product						12975309	Standard	NM_001287007		Approved	MGC26847	uc004atb.3	Q96L08	OTTHUMG00000020241	ENST00000375472.3:c.416G>A	9.37:g.95840266G>A	ENSP00000364621:p.Arg139His					SUSD3_ENST00000375469.1_Missense_Mutation_p.R126H	p.R139H	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN			3	452	+			139					Q49AA6|Q6UXV7	Missense_Mutation	SNP	ENST00000375472.3	37	c.416G>A	CCDS6701.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.126054	0.56721	0.0	1.16E-4	ENSG00000157303	ENST00000375472;ENST00000375469	T;T	0.66460	-0.21;0.23	4.92	2.07	0.26955	.	0.238169	0.32041	N	0.006661	T	0.56426	0.1984	M	0.62723	1.935	0.09310	N	1	B;B	0.31274	0.14;0.317	B;B	0.22386	0.039;0.032	T	0.44757	-0.9307	10	0.33940	T	0.23	-30.9691	9.211	0.37318	0.2501:0.0:0.7499:0.0	.	126;139	Q96L08-2;Q96L08	.;SUSD3_HUMAN	H	139;126	ENSP00000364621:R139H;ENSP00000364618:R126H	ENSP00000364618:R126H	R	+	2	0	SUSD3	94880087	0.010000	0.17322	0.000000	0.03702	0.016000	0.09150	0.718000	0.25866	0.330000	0.23485	-0.224000	0.12420	CGC		0.602	SUSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053120.1	NM_145006		4	70	0	0	0	1	0	4	70				
ACD	65057	broad.mit.edu	37	16	67693883	67693883	+	Silent	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:67693883C>A	ENST00000393919.4	-	2	687	c.423G>T	c.(421-423)ggG>ggT	p.G141G	PARD6A_ENST00000602551.1_5'Flank|ACD_ENST00000219251.8_Silent_p.G138G|PARD6A_ENST00000458121.2_5'Flank|PARD6A_ENST00000219255.3_5'Flank			Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	141					intracellular protein transport (GO:0006886)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of single-stranded telomeric DNA binding (GO:0060381)|positive regulation of telomerase activity (GO:0051973)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GCAGCGTGGCCCCGACGTCGG	0.716																																						ENST00000219251.8																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(412-414)ggG>ggT		adrenocortical dysplasia homolog (mouse)							15.0	18.0	17.0					16																	67693883		2194	4290	6484	SO:0001819	synonymous_variant	65057				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	g.chr16:67693883C>A	AF070535	CCDS10842.1, CCDS42181.1	16q22	2012-08-23			ENSG00000102977	ENSG00000102977			25070	protein-coding gene	gene with protein product	"""TIN2 interacting protein 1"", ""POT1 and TIN2 organizing protein"""	609377				15231715, 15181449	Standard	NM_001082486		Approved	Ptop, Pip1, Tpp1, Tint1	uc002etq.4	Q96AP0	OTTHUMG00000137547	ENST00000393919.4:c.423G>T	16.37:g.67693883C>A						ACD_ENST00000393919.4_Silent_p.G141G	p.G138G	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	2	745	-		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	141					Q562H5|Q9H8F9	Silent	SNP	ENST00000393919.4	37	c.414G>T	CCDS42181.1																																																																																				0.716	ACD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268880.1	NM_022914		20	19	1	0	1.50039e-11	1	1.72772e-11	20	19				
HID1	283987	broad.mit.edu	37	17	72960578	72960578	+	Splice_Site	SNP	C	C	A	rs201519416		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:72960578C>A	ENST00000425042.2	-	2	293	c.216G>T	c.(214-216)aaG>aaT	p.K72N	HID1_ENST00000532900.1_5'UTR	NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	72					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)											CAGCCCTCACCTTGTAGCACA	0.667																																						ENST00000425042.2																			0											c.e2+1		HID1 domain containing							84.0	72.0	76.0					17																	72960578		2202	4300	6502	SO:0001630	splice_region_variant	283987							g.chr17:72960578C>A		CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"""downregulated in multiple cancer 1"""	605752	"""chromosome 17 open reading frame 28"""	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.216+1G>T	17.37:g.72960578C>A						HID1_ENST00000532900.1_5'UTR	p.K72_splice	NM_030630.2	NP_085133.1					2	293	-								Q8N5L6|Q8TE83|Q9NT34	Splice_Site	SNP	ENST00000425042.2	37	c.216_splice	CCDS32726.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.804576	0.90623	.	.	ENSG00000167861	ENST00000425042;ENST00000534480	.	.	.	4.73	4.73	0.59995	.	0.054383	0.64402	D	0.000001	D	0.84147	0.5408	M	0.88570	2.965	0.80722	D	1	D;D	0.59767	0.982;0.986	P;D	0.68192	0.905;0.956	D	0.87276	0.2289	8	.	.	.	-26.8929	17.724	0.88360	0.0:1.0:0.0:0.0	.	72;72	Q8IV36-2;Q8IV36	.;CQ028_HUMAN	N	72	.	.	K	-	3	2	C17orf28	70472173	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.785000	0.68998	2.182000	0.69389	0.650000	0.86243	AAG		0.667	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390011.2	NM_030630	Missense_Mutation	8	7	1	0	1.12685e-05	1	1.21419e-05	8	7				
LINGO3	645191	broad.mit.edu	37	19	2291274	2291274	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:2291274G>A	ENST00000585527.1	-	1	749	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C	LINGO3_ENST00000404279.1_Missense_Mutation_p.R168C			P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	168						integral component of membrane (GO:0016021)				lung(1)|urinary_tract(1)	2						GCGAAGGCGCGGCGCGAGACG	0.667																																						ENST00000585527.1																			0				lung(1)|urinary_tract(1)	2						c.(502-504)Cgc>Tgc		leucine rich repeat and Ig domain containing 3							21.0	25.0	24.0					19																	2291274		2128	4231	6359	SO:0001583	missense	645191					integral to membrane		g.chr19:2291274G>A	AK091795	CCDS45905.1	19p13.3	2013-01-11	2007-02-01	2007-02-01		ENSG00000220008		"""Immunoglobulin superfamily / I-set domain containing"""	21206	protein-coding gene	gene with protein product		609792	"""leucine rich repeat neuronal 6B"""	LRRN6B		14686891	Standard	NM_001101391		Approved	LERN2	uc010dsx.1	P0C6S8		ENST00000585527.1:c.502C>T	19.37:g.2291274G>A	ENSP00000467753:p.Arg168Cys					LINGO3_ENST00000404279.1_Missense_Mutation_p.R168C	p.R168C			P0C6S8	LIGO3_HUMAN			1	749	-			168						Missense_Mutation	SNP	ENST00000585527.1	37	c.502C>T	CCDS45905.1	.	.	.	.	.	.	.	.	.	.	g	16.37	3.103435	0.56291	.	.	ENSG00000220008	ENST00000404279	T	0.59083	0.29	4.47	2.19	0.27852	.	.	.	.	.	T	0.75671	0.3881	M	0.87971	2.92	0.46376	D	0.999014	D	0.89917	1.0	D	0.77004	0.989	T	0.75150	-0.3419	9	0.46703	T	0.11	.	11.2217	0.48860	0.0:0.0:0.5351:0.4649	.	168	P0C6S8	LIGO3_HUMAN	C	168	ENSP00000384979:R168C	ENSP00000384979:R168C	R	-	1	0	LINGO3	2242274	0.996000	0.38824	0.372000	0.25991	0.985000	0.73830	0.675000	0.25232	0.249000	0.21456	0.462000	0.41574	CGC		0.667	LINGO3-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451291.2	NM_001101391		4	59	0	0	0	1	0	4	59				
MAN2B1	4125	broad.mit.edu	37	19	12767812	12767812	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:12767812C>T	ENST00000456935.2	-	12	1518	c.1478G>A	c.(1477-1479)tGc>tAc	p.C493Y	MAN2B1_ENST00000221363.4_Missense_Mutation_p.C492Y|MAN2B1_ENST00000495617.1_5'UTR	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	493					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TAGCTGTTGGCAAAAGGTGAA	0.627																																						ENST00000456935.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1477-1479)tGc>tAc		mannosidase, alpha, class 2B, member 1							34.0	34.0	34.0					19																	12767812		2203	4300	6503	SO:0001583	missense	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12767812C>T		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.1478G>A	19.37:g.12767812C>T	ENSP00000395473:p.Cys493Tyr					MAN2B1_ENST00000495617.1_5'UTR|MAN2B1_ENST00000221363.4_Missense_Mutation_p.C492Y	p.C493Y	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN			12	1518	-			493					G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	ENST00000456935.2	37	c.1478G>A	CCDS32919.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395208	0.62066	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	D;D	0.83992	-1.79;-1.79	5.26	5.26	0.73747	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.43919	D	0.000512	D	0.92227	0.7535	M	0.90542	3.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.982	D	0.93568	0.6901	10	0.87932	D	0	-47.1606	14.3447	0.66651	0.0:1.0:0.0:0.0	.	492;493	G5E928;O00754	.;MA2B1_HUMAN	Y	493;432;492	ENSP00000395473:C493Y;ENSP00000221363:C492Y	ENSP00000221363:C492Y	C	-	2	0	MAN2B1	12628812	1.000000	0.71417	0.318000	0.25279	0.011000	0.07611	5.330000	0.65899	2.443000	0.82685	0.467000	0.42956	TGC		0.627	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			4	40	0	0	0	1	0	4	40				
DNAH17	8632	broad.mit.edu	37	17	76568838	76568838	+	Missense_Mutation	SNP	G	G	T	rs201774484	byFrequency	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:76568838G>T	ENST00000585328.1	-	3	608	c.484C>A	c.(484-486)Ctg>Atg	p.L162M	DNAH17_ENST00000389840.5_Missense_Mutation_p.L162M	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	162	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGAATAGGCAGCAAGGTTTTG	0.587																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(484-486)Ctg>Atg		dynein, axonemal, heavy chain 17							53.0	58.0	56.0					17																	76568838		2095	4237	6332	SO:0001583	missense	8632							g.chr17:76568838G>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.484C>A	17.37:g.76568838G>T	ENSP00000465516:p.Leu162Met					DNAH17_ENST00000585328.1_Missense_Mutation_p.L162M	p.L162M					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		3	608	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.484C>A		.	.	.	.	.	.	.	.	.	.	G	16.05	3.012812	0.54468	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.36699	1.24	4.41	4.41	0.53225	.	.	.	.	.	T	0.57007	0.2024	M	0.76574	2.34	0.36181	D	0.849412	.	.	.	.	.	.	T	0.69895	-0.5021	7	0.72032	D	0.01	.	16.7815	0.85564	0.0:0.0:1.0:0.0	.	.	.	.	M	162	ENSP00000374490:L162M	ENSP00000300671:L162M	L	-	1	2	DNAH17	74080433	1.000000	0.71417	1.000000	0.80357	0.489000	0.33432	6.713000	0.74686	2.284000	0.76573	0.561000	0.74099	CTG		0.587	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		8	30	1	0	0.000157383	1	0.000166744	8	30				
ASCL1	429	broad.mit.edu	37	12	103352503	103352503	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:103352503C>T	ENST00000266744.3	+	1	1040	c.481C>T	c.(481-483)Cgc>Tgc	p.R161C		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	161	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				adrenal chromaffin cell differentiation (GO:0061104)|carotid body glomus cell differentiation (GO:0061103)|cell maturation (GO:0048469)|cellular response to magnetism (GO:0071259)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|lung epithelial cell differentiation (GO:0060487)|lung neuroendocrine cell differentiation (GO:0061100)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroblast fate determination (GO:0007400)|neuroblast proliferation (GO:0007405)|neurogenesis (GO:0022008)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron fate commitment (GO:0003359)|Notch signaling pathway (GO:0007219)|olfactory pit development (GO:0060166)|oligodendrocyte development (GO:0014003)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial cell differentiation (GO:0030856)|regulation of gene expression (GO:0010468)|regulation of mitotic cell cycle (GO:0007346)|regulation of timing of subpallium neuron differentiation (GO:0060165)|response to epidermal growth factor (GO:0070849)|response to folic acid (GO:0051593)|response to lithium ion (GO:0010226)|response to retinoic acid (GO:0032526)|spinal cord association neuron differentiation (GO:0021527)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|stomach neuroendocrine cell differentiation (GO:0061102)|subpallium neuron fate commitment (GO:0060163)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)|vestibular nucleus development (GO:0021750)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)			NS(3)|large_intestine(1)|lung(1)	5						GGAGACACTGCGCTCGGCGGT	0.657																																						ENST00000266744.3																			0				NS(3)|large_intestine(1)|lung(1)	5						c.(481-483)Cgc>Tgc		achaete-scute family bHLH transcription factor 1							40.0	36.0	37.0					12																	103352503		2203	4300	6503	SO:0001583	missense	429				cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity	g.chr12:103352503C>T	L08424	CCDS31886.1	12q22-q23	2013-10-17	2013-10-17			ENSG00000139352		"""Basic helix-loop-helix proteins"""	738	protein-coding gene	gene with protein product		100790	"""achaete-scute complex (Drosophila) homolog-like 1"", ""achaete-scute complex-like 1 (Drosophila)"", ""achaete-scute complex homolog 1 (Drosophila)"""			8390674	Standard	NM_004316		Approved	ASH1, HASH1, bHLHa46	uc001tjr.4	P50553		ENST00000266744.3:c.481C>T	12.37:g.103352503C>T	ENSP00000266744:p.Arg161Cys						p.R161C	NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN			1	1040	+			161			Helix-loop-helix motif.		A8K3C4|Q9BQ30	Missense_Mutation	SNP	ENST00000266744.3	37	c.481C>T	CCDS31886.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.924215	0.73213	.	.	ENSG00000139352	ENST00000266744	D	0.98280	-4.84	4.65	4.65	0.58169	Helix-loop-helix DNA-binding (5);	0.000000	0.64402	U	0.000001	D	0.99447	0.9804	H	0.99090	4.425	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.97955	1.0334	10	0.87932	D	0	-12.7016	17.148	0.86771	0.0:1.0:0.0:0.0	.	161	P50553	ASCL1_HUMAN	C	161	ENSP00000266744:R161C	ENSP00000266744:R161C	R	+	1	0	ASCL1	101876633	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	7.568000	0.82369	2.133000	0.65898	0.462000	0.41574	CGC		0.657	ASCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406707.1			25	39	0	0	0	1	0	25	39				
SEC24C	9632	broad.mit.edu	37	10	75526247	75526247	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:75526247C>T	ENST00000339365.2	+	13	1909	c.1747C>T	c.(1747-1749)Ctg>Ttg	p.L583L	SEC24C_ENST00000345254.4_Silent_p.L583L|SEC24C_ENST00000546025.1_3'UTR|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Silent_p.L464L	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	583					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					GTTTGTGCCACTGCTGGATGG	0.507																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1747-1749)Ctg>Ttg		SEC24 family member C							98.0	82.0	88.0					10																	75526247		2203	4300	6503	SO:0001819	synonymous_variant	9632				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr10:75526247C>T	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.1747C>T	10.37:g.75526247C>T						SEC24C_ENST00000345254.4_Silent_p.L583L|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000411652.2_Silent_p.L464L|SEC24C_ENST00000546025.1_3'UTR	p.L583L	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN			13	1909	+	Prostate(51;0.0112)		583					B4DZT4|Q8WV25	Silent	SNP	ENST00000339365.2	37	c.1747C>T	CCDS7332.1																																																																																				0.507	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			6	38	0	0	0	1	0	6	38				
WNT9A	7483	broad.mit.edu	37	1	228109526	228109526	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:228109526G>A	ENST00000272164.5	-	4	801	c.791C>T	c.(790-792)gCa>gTa	p.A264V		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	264					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal system morphogenesis (GO:0048704)|iris morphogenesis (GO:0061072)|mitotic cell cycle checkpoint (GO:0007093)|multicellular organismal development (GO:0007275)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of smoothened signaling pathway (GO:0045880)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				GATGGCACCTGCCTCGCCGGC	0.662																																						ENST00000272164.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19						c.(790-792)gCa>gTa		wingless-type MMTV integration site family, member 9A							45.0	47.0	46.0					1																	228109526		2203	4299	6502	SO:0001583	missense	7483				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity	g.chr1:228109526G>A	AB060283	CCDS31045.1	1q42	2008-02-05	2003-03-11	2003-03-14	ENSG00000143816	ENSG00000143816		"""Wingless-type MMTV integration sites"""	12778	protein-coding gene	gene with protein product		602863	"""wingless-type MMTV integration site family, member 14"""	WNT14		9441749	Standard	NM_003395		Approved		uc001hri.2	O14904	OTTHUMG00000037592	ENST00000272164.5:c.791C>T	1.37:g.228109526G>A	ENSP00000272164:p.Ala264Val					WNT9A_ENST00000497852.1_Intron	p.A264V	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN			4	801	-		Prostate(94;0.0405)	264					A6NLW2|Q2M2J3|Q5VWU0|Q96S50	Missense_Mutation	SNP	ENST00000272164.5	37	c.791C>T	CCDS31045.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.276391	0.23307	.	.	ENSG00000143816	ENST00000272164	T	0.75938	-0.98	4.81	4.81	0.61882	.	0.118506	0.33110	N	0.005272	T	0.60143	0.2246	L	0.28014	0.82	0.36444	D	0.865691	P	0.42078	0.77	B	0.40782	0.34	T	0.62774	-0.6783	10	0.19590	T	0.45	.	10.5736	0.45214	0.0:0.0:0.7931:0.2069	.	264	O14904	WNT9A_HUMAN	V	264	ENSP00000272164:A264V	ENSP00000272164:A264V	A	-	2	0	WNT9A	226176149	1.000000	0.71417	0.949000	0.38748	0.165000	0.22458	4.827000	0.62723	2.501000	0.84356	0.491000	0.48974	GCA		0.662	WNT9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091646.1	NM_003395		30	77	0	0	0	1	0	30	77				
C19orf80	55908	broad.mit.edu	37	19	11350481	11350481	+	Silent	SNP	G	G	A	rs371530336		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:11350481G>A	ENST00000252453.8	+	1	187	c.168G>A	c.(166-168)acG>acA	p.T56T	DOCK6_ENST00000294618.7_Intron|C19orf80_ENST00000591200.1_Intron|DOCK6_ENST00000319867.7_5'Flank	NM_018687.6	NP_061157.3	Q6UXH0	BETAT_HUMAN	chromosome 19 open reading frame 80	56					cellular lipid metabolic process (GO:0044255)|glucose metabolic process (GO:0006006)|positive regulation of protein processing (GO:0010954)|regulation of lipoprotein metabolic process (GO:0050746)|triglyceride homeostasis (GO:0070328)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(1)|breast(1)|endometrium(2)	4						ACAGGACCACGGAGGGACGGC	0.657																																						ENST00000252453.8																			0				NS(1)|breast(1)|endometrium(2)	4						c.(166-168)acG>acA		chromosome 19 open reading frame 80		G	,	4,3934		0,4,1965	20.0	23.0	22.0		168,	-9.2	0.1	19		22	0,8272		0,0,4136	no	coding-synonymous,intron	C19orf80,DOCK6	NM_018687.6,NM_020812.2	,	0,4,6101	AA,AG,GG		0.0,0.1016,0.0328	,	56/199,	11350481	4,12206	1969	4136	6105	SO:0001819	synonymous_variant	55908					extracellular region		g.chr19:11350481G>A		CCDS54220.1	19p13.2	2014-02-13			ENSG00000130173	ENSG00000130173			24933	protein-coding gene	gene with protein product	"""lipasin"", ""betatrophin"""					22809513, 23150577, 24262987	Standard	NM_018687		Approved	TD26, RIFL, ANGPTL8	uc021upg.1	Q6UXH0		ENST00000252453.8:c.168G>A	19.37:g.11350481G>A						C19orf80_ENST00000591200.1_Intron|DOCK6_ENST00000294618.7_Intron	p.T56T	NM_018687.6	NP_061157.3	Q6UXH0	TD26_HUMAN			1	187	+			56					Q9NQZ1	Silent	SNP	ENST00000252453.8	37	c.168G>A	CCDS54220.1																																																																																				0.657	C19orf80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453175.1	NM_018687		3	18	0	0	0	1	0	3	18				
UCP3	7352	broad.mit.edu	37	11	73716905	73716905	+	Silent	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:73716905T>C	ENST00000314032.4	-	4	963	c.411A>G	c.(409-411)acA>acG	p.T137T	UCP3_ENST00000348534.4_Intron|UCP3_ENST00000426995.2_Silent_p.T137T	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	137					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to hormone stimulus (GO:0032870)|fatty acid metabolic process (GO:0006631)|lipid metabolic process (GO:0006629)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|response to activity (GO:0014823)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					TCACCACATCTGTGGGCTGGG	0.612																																						ENST00000314032.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(409-411)acA>acG		uncoupling protein 3 (mitochondrial, proton carrier)							77.0	68.0	71.0					11																	73716905		2200	4293	6493	SO:0001819	synonymous_variant	7352				mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding	g.chr11:73716905T>C	AF001787	CCDS8229.1, CCDS44677.1	11q13.4	2013-05-22				ENSG00000175564		"""Solute carriers"""	12519	protein-coding gene	gene with protein product		602044				9480760, 9196039	Standard	NM_003356		Approved	SLC25A9	uc001our.3	P55916		ENST00000314032.4:c.411A>G	11.37:g.73716905T>C						UCP3_ENST00000426995.2_Silent_p.T137T|UCP3_ENST00000348534.4_Intron	p.T137T	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN			4	963	-	Breast(11;2.08e-05)		137					O60475|Q96HL3	Silent	SNP	ENST00000314032.4	37	c.411A>G	CCDS8229.1																																																																																				0.612	UCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398200.1	NM_003356		22	43	0	0	0	1	0	22	43				
CFAP61	26074	broad.mit.edu	37	20	20180466	20180466	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:20180466G>A	ENST00000245957.5	+	17	1928	c.1852G>A	c.(1852-1854)Gtg>Atg	p.V618M	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		618										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CTTGGTTCCCGTGCGACCACG	0.532																																						ENST00000245957.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(1852-1854)Gtg>Atg		chromosome 20 open reading frame 26							156.0	138.0	144.0					20																	20180466		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20180466G>A																												ENST00000245957.5:c.1852G>A	20.37:g.20180466G>A	ENSP00000245957:p.Val618Met					C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	p.V618M	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	17	1928	+			618					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.1852G>A	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995633	0.74703	.	.	ENSG00000089101	ENST00000343997;ENST00000339482;ENST00000389655;ENST00000245957	T	0.58210	0.35	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000001	T	0.75162	0.3812	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.77678	-0.2498	10	0.87932	D	0	.	19.5625	0.95378	0.0:0.0:1.0:0.0	.	598;618	F8W6K4;Q8NHU2	.;CT026_HUMAN	M	558;186;598;618	ENSP00000245957:V618M	ENSP00000245957:V618M	V	+	1	0	C20orf26	20128466	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.319000	0.79040	2.620000	0.88729	0.563000	0.77884	GTG		0.532	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			39	191	0	0	0	1	0	39	191				
EMILIN3	90187	broad.mit.edu	37	20	39993776	39993776	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:39993776C>T	ENST00000332312.3	-	2	381	c.189G>A	c.(187-189)gtG>gtA	p.V63V		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	63	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CATTCCTGTGCACCACATAGG	0.597																																						ENST00000332312.3																			0				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30						c.(187-189)gtG>gtA		elastin microfibril interfacer 3							162.0	126.0	138.0					20																	39993776		2203	4300	6503	SO:0001819	synonymous_variant	90187					proteinaceous extracellular matrix		g.chr20:39993776C>T	AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"""EMI domain containing"""	16123	protein-coding gene	gene with protein product	"""chromosome 20 open reading frame 130"""	608929	"""elastin microfibril interfacer 5"""	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.189G>A	20.37:g.39993776C>T							p.V63V	NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN			2	381	-		Myeloproliferative disorder(115;0.00425)	63			EMI.		Q495S5|Q495S6|Q495S7|Q76KT4	Silent	SNP	ENST00000332312.3	37	c.189G>A	CCDS13316.1																																																																																				0.597	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106876.2	XM_029741		7	67	0	0	0	1	0	7	67				
ARMC12	221481	broad.mit.edu	37	6	35715212	35715212	+	Splice_Site	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:35715212G>A	ENST00000373866.3	+	4	640		c.e4+1		ARMC12_ENST00000373869.3_Splice_Site|ARMC12_ENST00000288065.2_Splice_Site			Q5T9G4	ARM12_HUMAN	armadillo repeat containing 12							nucleus (GO:0005634)											CCTGGCACAGGTGCCTGAGGA	0.572																																						ENST00000373866.3																			0											c.e4+1		armadillo repeat containing 12							90.0	79.0	83.0					6																	35715212		2203	4300	6503	SO:0001630	splice_region_variant	221481						binding	g.chr6:35715212G>A	AK058119	CCDS4809.1, CCDS69093.1, CCDS69094.1	6p21.31	2013-02-14	2011-12-14	2011-12-14	ENSG00000157343	ENSG00000157343		"""Armadillo repeat containing"""	21099	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 81"""	C6orf81			Standard	XM_005248920		Approved	FLJ25390	uc003ola.3	Q5T9G4	OTTHUMG00000014577	ENST00000373866.3:c.618+1G>A	6.37:g.35715212G>A						ARMC12_ENST00000373869.3_Splice_Site|ARMC12_ENST00000288065.2_Splice_Site				Q5T9G4	CF081_HUMAN			4	640	+								Q8NEB2|Q96LL8	Splice_Site	SNP	ENST00000373866.3	37			.	.	.	.	.	.	.	.	.	.	G	18.84	3.709754	0.68730	.	.	ENSG00000157343	ENST00000373869;ENST00000288065;ENST00000373866	.	.	.	4.47	4.47	0.54385	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0185	0.64539	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C6orf81	35823190	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.207000	0.65197	2.018000	0.59344	0.462000	0.41574	.		0.572	ARMC12-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040311.2	NM_145028	Intron	20	90	0	0	0	1	0	20	90				
SCN5A	6331	broad.mit.edu	37	3	38622503	38622503	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:38622503G>A	ENST00000333535.4	-	17	3296	c.3147C>T	c.(3145-3147)atC>atT	p.I1049I	SCN5A_ENST00000414099.2_Silent_p.I1049I|SCN5A_ENST00000450102.2_Silent_p.I1049I|SCN5A_ENST00000449557.2_Silent_p.I1049I|SCN5A_ENST00000443581.1_Silent_p.I1049I|SCN5A_ENST00000451551.2_Silent_p.I1049I|SCN5A_ENST00000425664.1_Silent_p.I1049I|SCN5A_ENST00000423572.2_Silent_p.I1049I|SCN5A_ENST00000455624.2_Silent_p.I1049I|SCN5A_ENST00000413689.1_Silent_p.I1049I			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1049					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CGGCCACAGCGATGGGCACAC	0.637																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(3145-3147)atC>atT		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						35.0	38.0	37.0					3																	38622503		2094	4206	6300	SO:0001819	synonymous_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38622503G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.3147C>T	3.37:g.38622503G>A						SCN5A_ENST00000333535.4_Silent_p.I1049I|SCN5A_ENST00000423572.2_Silent_p.I1049I|SCN5A_ENST00000414099.2_Silent_p.I1049I|SCN5A_ENST00000455624.2_Silent_p.I1049I|SCN5A_ENST00000451551.2_Silent_p.I1049I|SCN5A_ENST00000450102.2_Silent_p.I1049I|SCN5A_ENST00000449557.2_Silent_p.I1049I|SCN5A_ENST00000425664.1_Silent_p.I1049I|SCN5A_ENST00000443581.1_Silent_p.I1049I	p.I1049I	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	17	3340	-	Medulloblastoma(35;0.163)		1049					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	c.3147C>T	CCDS46796.1																																																																																				0.637	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		34	7	0	0	0	1	0	34	7				
PLEC	5339	broad.mit.edu	37	8	145008885	145008885	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:145008885T>C	ENST00000322810.4	-	10	1539	c.1370A>G	c.(1369-1371)cAg>cGg	p.Q457R	PLEC_ENST00000357649.2_Missense_Mutation_p.Q324R|PLEC_ENST00000354589.3_Missense_Mutation_p.Q320R|PLEC_ENST00000527096.1_Missense_Mutation_p.Q343R|PLEC_ENST00000436759.2_Missense_Mutation_p.Q347R|PLEC_ENST00000354958.2_Missense_Mutation_p.Q298R|PLEC_ENST00000398774.2_Missense_Mutation_p.Q288R|PLEC_ENST00000345136.3_Missense_Mutation_p.Q320R|PLEC_ENST00000356346.3_Missense_Mutation_p.Q306R	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	457	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTTCAGGAACTGAGACCACAG	0.632																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(1369-1371)cAg>cGg		plectin							108.0	116.0	113.0					8																	145008885		2070	4182	6252	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145008885T>C	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.1370A>G	8.37:g.145008885T>C	ENSP00000323856:p.Gln457Arg					PLEC_ENST00000356346.3_Missense_Mutation_p.Q306R|PLEC_ENST00000345136.3_Missense_Mutation_p.Q320R|PLEC_ENST00000398774.2_Missense_Mutation_p.Q288R|PLEC_ENST00000354589.3_Missense_Mutation_p.Q320R|PLEC_ENST00000527096.1_Missense_Mutation_p.Q343R|PLEC_ENST00000354958.2_Missense_Mutation_p.Q298R|PLEC_ENST00000357649.2_Missense_Mutation_p.Q324R|PLEC_ENST00000436759.2_Missense_Mutation_p.Q347R	p.Q457R	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			10	1539	-			457			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.1370A>G	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	t	11.30	1.598317	0.28445	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000528025	T;T;T;T;T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	4.59	4.59	0.56863	.	0.000000	0.56097	U	0.000027	T	0.80308	0.4599	M	0.76574	2.34	0.54753	D	0.999985	D;D;D;D;D;D;D;D	0.63880	0.993;0.993;0.993;0.988;0.993;0.993;0.993;0.993	D;D;D;D;D;D;D;D	0.79108	0.992;0.992;0.992;0.982;0.992;0.992;0.992;0.992	T	0.82940	-0.0208	10	0.87932	D	0	.	13.068	0.59045	0.0:0.0:0.0:1.0	.	347;306;298;457;288;320;324;320	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	R	320;324;320;288;457;298;306;347;343;364	ENSP00000344848:Q320R;ENSP00000350277:Q324R;ENSP00000346602:Q320R;ENSP00000381756:Q288R;ENSP00000323856:Q457R;ENSP00000347044:Q298R;ENSP00000348702:Q306R;ENSP00000388180:Q347R;ENSP00000434583:Q343R;ENSP00000437303:Q364R	ENSP00000323856:Q457R	Q	-	2	0	PLEC	145080873	1.000000	0.71417	1.000000	0.80357	0.104000	0.19210	3.969000	0.56816	1.933000	0.56026	0.478000	0.44815	CAG		0.632	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		24	125	0	0	0	1	0	24	125				
WNT7A	7476	broad.mit.edu	37	3	13896227	13896227	+	Silent	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:13896227G>T	ENST00000285018.4	-	3	676	c.372C>A	c.(370-372)acC>acA	p.T124T		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	124					asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						GGTTGCCCTGGGTACAGGCAG	0.647																																						ENST00000285018.4																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						c.(370-372)acC>acA		wingless-type MMTV integration site family, member 7A							95.0	88.0	91.0					3																	13896227		2203	4300	6503	SO:0001819	synonymous_variant	7476				activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity	g.chr3:13896227G>T	D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"""Wingless-type MMTV integration sites"""	12786	protein-coding gene	gene with protein product	"""proto-oncogene Wnt7a protein"""	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.372C>A	3.37:g.13896227G>T							p.T124T	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN			3	676	-			124					Q96H90|Q9Y560	Silent	SNP	ENST00000285018.4	37	c.372C>A	CCDS2616.1																																																																																				0.647	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2	NM_004625		32	53	1	0	2.81731e-10	1	3.20533e-10	32	53				
PLAGL1	5325	broad.mit.edu	37	6	144263510	144263510	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:144263510G>A	ENST00000360537.2	-	5	2356	c.443C>T	c.(442-444)cCt>cTt	p.P148L	PLAGL1_ENST00000367572.1_Missense_Mutation_p.P96L|PLAGL1_ENST00000444202.1_Missense_Mutation_p.P148L|PLAGL1_ENST00000437412.1_Missense_Mutation_p.P96L|PLAGL1_ENST00000367571.1_Missense_Mutation_p.P148L|PLAGL1_ENST00000392307.1_Missense_Mutation_p.P96L|PLAGL1_ENST00000429150.1_Missense_Mutation_p.P148L|PLAGL1_ENST00000416623.1_Missense_Mutation_p.P148L|PLAGL1_ENST00000392309.1_Missense_Mutation_p.P148L|PLAGL1_ENST00000354765.2_Missense_Mutation_p.P148L			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	148					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		GGTTCCGCTAGGGGGCTTCTC	0.607											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000360537.2																			0				endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13						c.(442-444)cCt>cTt		pleiomorphic adenoma gene-like 1							97.0	93.0	94.0					6																	144263510		2203	4300	6503	SO:0001583	missense	5325				cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:144263510G>A	U81992	CCDS5202.1, CCDS5203.1	6q24-q25	2013-01-08			ENSG00000118495	ENSG00000118495		"""Zinc fingers, C2H2-type"""	9046	protein-coding gene	gene with protein product		603044				9722527, 9671765	Standard	NM_006718		Approved	ZAC, LOT1	uc003qkf.3	Q9UM63	OTTHUMG00000015738	ENST00000360537.2:c.443C>T	6.37:g.144263510G>A	ENSP00000353734:p.Pro148Leu		OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1685	PLAGL1_ENST00000437412.1_Missense_Mutation_p.P96L|PLAGL1_ENST00000429150.1_Missense_Mutation_p.P148L|PLAGL1_ENST00000367572.1_Missense_Mutation_p.P96L|PLAGL1_ENST00000416623.1_Missense_Mutation_p.P148L|PLAGL1_ENST00000367571.1_Missense_Mutation_p.P148L|PLAGL1_ENST00000392307.1_Missense_Mutation_p.P96L|PLAGL1_ENST00000392309.1_Missense_Mutation_p.P148L|PLAGL1_ENST00000354765.2_Missense_Mutation_p.P148L|PLAGL1_ENST00000444202.1_Missense_Mutation_p.P148L	p.P148L			Q9UM63	PLAL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)	5	2356	-			148					B2RBA4|B2RCM8|E1P595|E1P597|O76019|Q7Z3V8|Q92981|Q96JR9|Q9UIZ0	Missense_Mutation	SNP	ENST00000360537.2	37	c.443C>T	CCDS5202.1	.	.	.	.	.	.	.	.	.	.	G	6.286	0.420808	0.11928	.	.	ENSG00000118495	ENST00000360537;ENST00000354765;ENST00000444202;ENST00000429150;ENST00000392309;ENST00000416623;ENST00000437412;ENST00000392307;ENST00000367572;ENST00000367571;ENST00000417959	T;T;T;T;T;T;T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75;2.75;3.77;3.77;3.77;2.75;2.89	5.89	0.328	0.15918	.	1.110990	0.06738	N	0.777846	T	0.01765	0.0056	N	0.16098	0.37	0.09310	N	1	B	0.19935	0.04	B	0.19148	0.024	T	0.48625	-0.9019	10	0.12103	T	0.63	-1.409	11.3794	0.49748	0.0:0.1133:0.3669:0.5199	.	148	Q9UM63	PLAL1_HUMAN	L	148;148;148;148;148;148;96;96;96;148;96	ENSP00000353734:P148L;ENSP00000346810:P148L;ENSP00000400929:P148L;ENSP00000398409:P148L;ENSP00000376125:P148L;ENSP00000400060:P148L;ENSP00000392418:P96L;ENSP00000376124:P96L;ENSP00000356544:P96L;ENSP00000356543:P148L;ENSP00000395960:P96L	ENSP00000346810:P148L	P	-	2	0	PLAGL1	144305203	0.004000	0.15560	0.000000	0.03702	0.010000	0.07245	1.304000	0.33482	-0.287000	0.09064	-0.182000	0.12963	CCT		0.607	PLAGL1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042541.1			17	62	0	0	0	1	0	17	62				
PCSK5	5125	broad.mit.edu	37	9	78790192	78790192	+	Intron	SNP	C	C	G	rs200914896		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:78790192C>G	ENST00000545128.1	+	14	2438				PCSK5_ENST00000376767.3_Missense_Mutation_p.R683G|PCSK5_ENST00000376752.4_Intron	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5						anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ggaatggaatcgaatcgaatc	0.373																																						ENST00000376767.3																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(2047-2049)Cga>Gga		proprotein convertase subtilisin/kexin type 5																																				SO:0001627	intron_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78790192C>G		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1900+147C>G	9.37:g.78790192C>G						PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron	p.R683G			Q92824	PCSK5_HUMAN			14	2559	+			0			CRM (Cys-rich motif).		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.2047C>G	CCDS55320.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	0.525|0.525	-0.860634|-0.860634	0.02610|0.02610	.|.	.|.	ENSG00000099139|ENSG00000099139	ENST00000376767|ENST00000396108	T|.	0.65916|.	-0.18|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.35098|0.35098	0.0920|0.0920	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.38045|0.38045	-0.9679|-0.9679	7|4	0.07325|0.87932	T|D	0.83|0	.|.	2.8186|2.8186	0.05465|0.05465	0.5:0.5:0.0:0.0|0.5:0.5:0.0:0.0	.|.	683|.	B1AMG5|.	.|.	G|W	683|681	ENSP00000365958:R683G|.	ENSP00000365958:R683G|ENSP00000379415:S681W	R|S	+|+	1|2	2|0	PCSK5|PCSK5	77980012|77980012	0.000000|0.000000	0.05858|0.05858	0.075000|0.075000	0.20258|0.20258	0.077000|0.077000	0.17291|0.17291	-2.681000|-2.681000	0.00837|0.00837	-0.000000|-0.000000	0.14550|0.14550	0.000000|0.000000	0.15137|0.15137	CGA|TCG		0.373	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				3	5	0	0	0	1	0	3	5				
ATXN1	6310	broad.mit.edu	37	6	16307061	16307061	+	Silent	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:16307061A>G	ENST00000244769.4	-	9	2883	c.1947T>C	c.(1945-1947)ccT>ccC	p.P649P	ATXN1_ENST00000436367.1_Silent_p.P649P	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	649	AXH. {ECO:0000255|PROSITE- ProRule:PRU00496}.|Interaction with USP7.|RNA-binding.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				ACACAAAAAAAGGATACTCTA	0.458																																						ENST00000244769.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44						c.(1945-1947)ccT>ccC		ataxin 1							71.0	77.0	75.0					6																	16307061		2202	4300	6502	SO:0001819	synonymous_variant	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16307061A>G	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.1947T>C	6.37:g.16307061A>G						ATXN1_ENST00000436367.1_Silent_p.P649P	p.P649P	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN			9	2883	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	649			AXH.|Interaction with USP7.|RNA-binding.		Q17S02|Q9UJG2|Q9Y4J1	Silent	SNP	ENST00000244769.4	37	c.1947T>C	CCDS34342.1																																																																																				0.458	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		22	96	0	0	0	1	0	22	96				
TRIP12	9320	broad.mit.edu	37	2	230744733	230744733	+	Silent	SNP	G	G	A	rs373813337		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:230744733G>A	ENST00000283943.5	-	2	241	c.63C>T	c.(61-63)gcC>gcT	p.A21A	TRIP12_ENST00000389045.3_Silent_p.A21A|TRIP12_ENST00000389044.4_Silent_p.A21A|TRIP12_ENST00000409677.1_Silent_p.A21A|TRIP12_ENST00000543084.1_Silent_p.A21A	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	21					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GTTGGGCCCCGGCAGTGTTCC	0.453																																						ENST00000283943.5																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(61-63)gcC>gcT		thyroid hormone receptor interactor 12							130.0	123.0	126.0					2																	230744733		2203	4300	6503	SO:0001819	synonymous_variant	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230744733G>A	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.63C>T	2.37:g.230744733G>A						TRIP12_ENST00000409677.1_Silent_p.A21A|TRIP12_ENST00000389044.4_Silent_p.A21A|TRIP12_ENST00000389045.3_Silent_p.A21A|TRIP12_ENST00000543084.1_Silent_p.A21A	p.A21A	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	2	241	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	21					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Silent	SNP	ENST00000283943.5	37	c.63C>T	CCDS33391.1																																																																																				0.453	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		56	89	0	0	0	1	0	56	89				
SLCO3A1	28232	broad.mit.edu	37	15	92706187	92706187	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:92706187A>G	ENST00000318445.6	+	10	2169	c.1955A>G	c.(1954-1956)tAt>tGt	p.Y652C	RP11-152L20.3_ENST00000561674.1_RNA|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.Y652C|RP11-24J19.1_ENST00000557683.1_RNA|SLCO3A1_ENST00000555549.1_3'UTR	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	652					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	AGGAAAAACTATAAACGCTAC	0.542																																						ENST00000318445.6																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25						c.(1954-1956)tAt>tGt		solute carrier organic anion transporter family, member 3A1							99.0	79.0	86.0					15																	92706187		2198	4298	6496	SO:0001583	missense	28232				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	g.chr15:92706187A>G	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.1955A>G	15.37:g.92706187A>G	ENSP00000320634:p.Tyr652Cys					SLCO3A1_ENST00000424469.2_Missense_Mutation_p.Y652C|SLCO3A1_ENST00000555549.1_3'UTR|RP11-152L20.3_ENST00000561674.1_RNA|RP11-24J19.1_ENST00000557683.1_RNA	p.Y652C	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)		10	2169	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		652					A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	ENST00000318445.6	37	c.1955A>G	CCDS10371.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.110344	0.77210	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000555549	T;T	0.38401	1.14;1.16	5.44	5.44	0.79542	Major facilitator superfamily domain, general substrate transporter (1);	0.255733	0.40818	N	0.001014	T	0.45196	0.1330	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.999;0.978	D;P	0.68483	0.958;0.827	T	0.39840	-0.9594	10	0.40728	T	0.16	.	15.5026	0.75713	1.0:0.0:0.0:0.0	.	652;652	Q9UIG8-2;Q9UIG8	.;SO3A1_HUMAN	C	652;652;371	ENSP00000320634:Y652C;ENSP00000387846:Y652C	ENSP00000320634:Y652C	Y	+	2	0	SLCO3A1	90507191	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.727000	0.91480	2.053000	0.61076	0.533000	0.62120	TAT		0.542	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		32	39	0	0	0	1	0	32	39				
AACSP1	729522	broad.mit.edu	37	5	178199531	178199531	+	RNA	SNP	C	C	T	rs540200724		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:178199531C>T	ENST00000503486.2	-	0	1004					NR_024035.1				acetoacetyl-CoA synthetase pseudogene 1																		GGCTGGAAGGCGTGCCCAGAG	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		19640	0.0		0.0	False		,,,				2504	0.001					ENST00000503486.2																			0																																																			729522							g.chr5:178199531C>T			5q35	2010-09-29	2010-09-29	2010-09-29	ENSG00000250420	ENSG00000250420			18226	pseudogene	pseudogene			"""acetoacetyl-CoA synthetase-like"""	AACSL			Standard	NR_024035		Approved		uc011dgl.2		OTTHUMG00000163584		5.37:g.178199531C>T								NR_024035.1						0	1004	-									RNA	SNP	ENST00000503486.2	37																																																																																						0.587	AACSP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000374392.2	NR_024035		17	2	0	0	0	1	0	17	2				
NTN5	126147	broad.mit.edu	37	19	49167847	49167847	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:49167847C>A	ENST00000270235.4	-	3	904	c.809G>T	c.(808-810)aGg>aTg	p.R270M	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	270	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.					extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						TCTGCAGGCCCTGCGGCTGAA	0.672																																						ENST00000270235.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						c.(808-810)aGg>aTg		netrin 5							29.0	26.0	27.0					19																	49167847		2202	4300	6502	SO:0001583	missense	126147					extracellular region		g.chr19:49167847C>A		CCDS33068.1	19q13.33	2013-03-01			ENSG00000142233	ENSG00000142233		"""Netrins"""	25208	protein-coding gene	gene with protein product	"""Netrin-5"""					12477932	Standard	NM_145807		Approved		uc002pkb.3	Q8WTR8		ENST00000270235.4:c.809G>T	19.37:g.49167847C>A	ENSP00000270235:p.Arg270Met					SEC1P_ENST00000430145.2_RNA	p.R270M	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN			3	904	-			270			Laminin EGF-like 2.		Q8N4X9|Q8WU63	Missense_Mutation	SNP	ENST00000270235.4	37	c.809G>T	CCDS33068.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306416	0.40795	.	.	ENSG00000142233	ENST00000270235	T	0.28069	1.63	5.12	1.17	0.20885	EGF-like, laminin (3);	0.385893	0.27941	N	0.017230	T	0.30039	0.0752	L	0.42686	1.345	0.23933	N	0.996427	P;P	0.48016	0.904;0.873	P;B	0.49528	0.614;0.357	T	0.08493	-1.0719	10	0.52906	T	0.07	.	7.4519	0.27244	0.0:0.3323:0.0:0.6677	.	270;270	Q8WTR8-2;Q8WTR8	.;NET5_HUMAN	M	270	ENSP00000270235:R270M	ENSP00000270235:R270M	R	-	2	0	NTN5	53859659	0.001000	0.12720	1.000000	0.80357	0.460000	0.32559	-0.012000	0.12699	0.381000	0.24851	-0.477000	0.04895	AGG		0.672	NTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466176.1	NM_145807		4	39	1	0	0.00909568	1	0.0092416	4	39				
RUNDC3A	10900	broad.mit.edu	37	17	42390845	42390845	+	Silent	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:42390845G>T	ENST00000426726.3	+	4	706	c.432G>T	c.(430-432)acG>acT	p.T144T	RUNDC3A_ENST00000225441.7_Silent_p.T144T|RUNDC3A_ENST00000590941.1_Silent_p.T139T|AC003102.3_ENST00000588097.1_RNA	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	144	Interaction with RAP2A. {ECO:0000250}.|RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of cGMP biosynthetic process (GO:0030828)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanylate cyclase activator activity (GO:0030250)|small GTPase regulator activity (GO:0005083)			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		ACATCACCACGGCTCTGCGTG	0.567																																					Pancreas(82;1061 1416 11136 20771 23901)	ENST00000426726.3																			0				large_intestine(1)|lung(1)|ovary(2)	4						c.(430-432)acG>acT		RUN domain containing 3A							62.0	67.0	65.0					17																	42390845		2101	4226	6327	SO:0001819	synonymous_variant	10900				small GTPase mediated signal transduction		small GTPase regulator activity	g.chr17:42390845G>T	AF055026	CCDS45698.1, CCDS45699.1, CCDS59294.1	17q21.31	2008-02-05			ENSG00000108309	ENSG00000108309			16984	protein-coding gene	gene with protein product		605448				9523700	Standard	NM_006695		Approved	RPIP8, RAP2IP	uc002igl.4	Q59EK9	OTTHUMG00000169259	ENST00000426726.3:c.432G>T	17.37:g.42390845G>T						AC003102.3_ENST00000588097.1_RNA|RUNDC3A_ENST00000225441.7_Silent_p.T144T|RUNDC3A_ENST00000590941.1_Silent_p.T139T	p.T144T	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	4	706	+		Prostate(33;0.0233)	144			Interaction with RAP2A (By similarity).|RUN.		B2R974|O15483|O60651|Q7Z3S2|Q9UF50	Silent	SNP	ENST00000426726.3	37	c.432G>T	CCDS45698.1																																																																																				0.567	RUNDC3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403173.2	NM_006695		13	67	1	0	1.5739e-10	1	1.79784e-10	13	67				
QKI	9444	broad.mit.edu	37	6	163984541	163984541	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:163984541C>T	ENST00000361752.3	+	6	1275	c.724C>T	c.(724-726)Cgt>Tgt	p.R242C	QKI_ENST00000361195.2_Missense_Mutation_p.R234C|QKI_ENST00000453779.2_Missense_Mutation_p.R242C|QKI_ENST00000424802.3_Missense_Mutation_p.R234C|QKI_ENST00000275262.7_Missense_Mutation_p.R242C|QKI_ENST00000392127.2_Missense_Mutation_p.R242C	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	242					long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		AGCTGCCCTGCGTACTCCTAC	0.557																																						ENST00000361752.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27						c.(724-726)Cgt>Tgt		QKI, KH domain containing, RNA binding							61.0	57.0	58.0					6																	163984541		2203	4300	6503	SO:0001583	missense	9444				mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	g.chr6:163984541C>T	AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"""quaking homolog, KH domain RNA binding (mouse)"""			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.724C>T	6.37:g.163984541C>T	ENSP00000355094:p.Arg242Cys					QKI_ENST00000453779.2_Missense_Mutation_p.R242C|QKI_ENST00000275262.7_Missense_Mutation_p.R242C|QKI_ENST00000392127.2_Missense_Mutation_p.R242C|QKI_ENST00000361195.2_Missense_Mutation_p.R234C|QKI_ENST00000424802.3_Missense_Mutation_p.R234C	p.R242C	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)	6	1275	+		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)	242					Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Missense_Mutation	SNP	ENST00000361752.3	37	c.724C>T	CCDS5285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.61|14.61	2.585984|2.585984	0.46110|0.46110	.|.	.|.	ENSG00000112531|ENSG00000112531	ENST00000537883;ENST00000544361|ENST00000453779;ENST00000275262;ENST00000392127;ENST00000361752;ENST00000361195;ENST00000424802	.|.	.|.	.|.	6.02|6.02	4.24|4.24	0.50183|0.50183	.|.	.|0.054049	.|0.85682	.|D	.|0.000000	T|T	0.36441|0.36441	0.0967|0.0967	M|M	0.65498|0.65498	2.005|2.005	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B;B	.|0.34255	.|0.175;0.212;0.324;0.445;0.116;0.445	.|B;B;B;B;B;B	.|0.25140	.|0.039;0.018;0.058;0.058;0.025;0.058	T|T	0.38779|0.38779	-0.9645|-0.9645	5|9	.|0.56958	.|D	.|0.05	-1.387|-1.387	11.2451|11.2451	0.48991|0.48991	0.1284:0.8063:0.0:0.0653|0.1284:0.8063:0.0:0.0653	.|.	.|234;242;234;242;242;242	.|Q96PU8-3;Q96PU8;Q96PU8-5;Q96PU8-9;Q96PU8-6;Q96PU8-8	.|.;QKI_HUMAN;.;.;.;.	V|C	138;75|242;242;242;242;234;234	.|.	.|ENSP00000275262:R242C	A|R	+|+	2|1	0|0	QKI|QKI	163904531|163904531	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.998000|0.998000	0.95712|0.95712	7.479000|7.479000	0.81095|0.81095	0.873000|0.873000	0.35799|0.35799	0.655000|0.655000	0.94253|0.94253	GCG|CGT		0.557	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2	NM_006775		19	62	0	0	0	1	0	19	62				
SPG11	80208	broad.mit.edu	37	15	44907702	44907702	+	Missense_Mutation	SNP	C	C	T	rs200281262		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:44907702C>T	ENST00000261866.7	-	16	2913	c.2897G>A	c.(2896-2898)cGt>cAt	p.R966H	SPG11_ENST00000558319.1_Missense_Mutation_p.R966H|SPG11_ENST00000427534.2_Missense_Mutation_p.R966H|SPG11_ENST00000535302.2_Missense_Mutation_p.R966H	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	966					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		ACCTCCAATACGGCTCAGTCT	0.403																																						ENST00000261866.7																			0				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72						c.(2896-2898)cGt>cAt		spastic paraplegia 11 (autosomal recessive)		C	HIS/ARG,HIS/ARG	0,4396		0,0,2198	102.0	91.0	94.0		2897,2897	3.5	1.0	15		94	1,8595	2.2+/-6.3	0,1,4297	yes	missense,missense	SPG11	NM_001160227.1,NM_025137.3	29,29	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	966/2331,966/2444	44907702	1,12991	2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44907702C>T		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.2897G>A	15.37:g.44907702C>T	ENSP00000261866:p.Arg966His					SPG11_ENST00000535302.2_Missense_Mutation_p.R966H|SPG11_ENST00000427534.2_Missense_Mutation_p.R966H|SPG11_ENST00000558319.1_Missense_Mutation_p.R966H	p.R966H	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	16	2913	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	966					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.2897G>A	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354707	0.61293	0.0	1.16E-4	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.78595	-1.19;-0.93;-0.93	5.33	3.46	0.39613	.	0.379291	0.27298	N	0.020016	T	0.82263	0.4999	M	0.67953	2.075	0.44432	D	0.997351	D;D;D;P	0.89917	0.998;0.999;1.0;0.675	P;D;D;B	0.69824	0.843;0.933;0.966;0.085	T	0.79829	-0.1638	10	0.66056	D	0.02	.	2.7173	0.05191	0.1466:0.5477:0.1423:0.1634	.	966;966;966;966	C4B7M2;F5H3N6;Q96JI7-2;Q96JI7	.;.;.;SPTCS_HUMAN	H	966	ENSP00000261866:R966H;ENSP00000445278:R966H;ENSP00000396110:R966H	ENSP00000261866:R966H	R	-	2	0	SPG11	42694994	0.006000	0.16342	0.986000	0.45419	0.937000	0.57800	-0.047000	0.11963	0.635000	0.30488	0.591000	0.81541	CGT		0.403	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			21	83	0	0	0	1	0	21	83				
ITPR2	3709	broad.mit.edu	37	12	26572134	26572134	+	Missense_Mutation	SNP	T	T	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:26572134T>G	ENST00000381340.3	-	50	7374	c.6958A>C	c.(6958-6960)Att>Ctt	p.I2320L	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2320					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	AGAAAAACAATTTTATTACAA	0.413																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(6958-6960)Att>Ctt		inositol 1,4,5-trisphosphate receptor, type 2							70.0	67.0	68.0					12																	26572134		1890	4116	6006	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26572134T>G	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.6958A>C	12.37:g.26572134T>G	ENSP00000370744:p.Ile2320Leu					RP11-513G19.1_ENST00000535324.1_RNA	p.I2320L	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			50	7374	-	Colorectal(261;0.0847)		2320					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.6958A>C	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	T	14.62	2.590849	0.46214	.	.	ENSG00000123104	ENST00000381340	D	0.91295	-2.82	5.34	5.34	0.76211	.	0.061993	0.64402	D	0.000002	D	0.86130	0.5859	L	0.42529	1.33	0.80722	D	1	B	0.06786	0.001	B	0.19666	0.026	T	0.80944	-0.1156	10	0.09338	T	0.73	.	15.4845	0.75555	0.0:0.0:0.0:1.0	.	2320	Q14571	ITPR2_HUMAN	L	2320	ENSP00000370744:I2320L	ENSP00000370744:I2320L	I	-	1	0	ITPR2	26463401	1.000000	0.71417	0.973000	0.42090	0.965000	0.64279	2.774000	0.47694	2.240000	0.73641	0.533000	0.62120	ATT		0.413	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		20	63	0	0	0	1	0	20	63				
DDX4	54514	broad.mit.edu	37	5	55110883	55110883	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:55110883T>C	ENST00000505374.1	+	20	1962	c.1870T>C	c.(1870-1872)Tat>Cat	p.Y624H	DDX4_ENST00000353507.5_Missense_Mutation_p.Y590H|DDX4_ENST00000514278.2_Missense_Mutation_p.Y604H|DDX4_ENST00000511853.1_Missense_Mutation_p.Y475H|DDX4_ENST00000354991.5_Missense_Mutation_p.Y590H	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	624	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				CATTGATGAATATGTTCATCG	0.418																																						ENST00000505374.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(1870-1872)Tat>Cat		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4							180.0	177.0	178.0					5																	55110883		2203	4300	6503	SO:0001583	missense	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55110883T>C	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"""DEAD-boxes"""	18700	protein-coding gene	gene with protein product		605281	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"""			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.1870T>C	5.37:g.55110883T>C	ENSP00000424838:p.Tyr624His					DDX4_ENST00000353507.5_Missense_Mutation_p.Y590H|DDX4_ENST00000511853.1_Missense_Mutation_p.Y475H|DDX4_ENST00000514278.2_Missense_Mutation_p.Y604H|DDX4_ENST00000354991.5_Missense_Mutation_p.Y590H	p.Y624H	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN			20	1962	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	624			Helicase C-terminal.		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	37	c.1870T>C	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	T	17.25	3.341978	0.61073	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000354991;ENST00000511853	T;T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38;-1.38	5.56	4.39	0.52855	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.88358	0.6415	M	0.73430	2.235	0.47905	D	0.999543	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;1.0;1.0	D	0.88669	0.3194	10	0.87932	D	0	-0.8203	11.999	0.53220	0.1297:0.0:0.0:0.8703	.	604;475;590;624	D6RDK4;E9PCD8;Q9NQI0-2;Q9NQI0	.;.;.;DDX4_HUMAN	H	590;604;624;590;475	ENSP00000334167:Y590H;ENSP00000425359:Y604H;ENSP00000424838:Y624H;ENSP00000347087:Y590H;ENSP00000423123:Y475H	ENSP00000334167:Y590H	Y	+	1	0	DDX4	55146640	1.000000	0.71417	1.000000	0.80357	0.458000	0.32498	7.698000	0.84413	0.920000	0.36970	0.379000	0.24179	TAT		0.418	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		74	22	0	0	0	1	0	74	22				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			10	140	1	0	0.000442599	1	0.000465464	10	140				
ZNF808	388558	broad.mit.edu	37	19	53058406	53058406	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:53058406A>G	ENST00000359798.4	+	5	2417	c.2237A>G	c.(2236-2238)cAg>cGg	p.Q746R		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	746					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		ACGTTCAGTCAGAAGGCAACC	0.458																																						ENST00000359798.4																			0				endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24						c.(2236-2238)cAg>cGg		zinc finger protein 808							182.0	178.0	180.0					19																	53058406		2203	4300	6503	SO:0001583	missense	388558				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53058406A>G	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.2237A>G	19.37:g.53058406A>G	ENSP00000352846:p.Gln746Arg						p.Q746R	NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)	5	2417	+			746					Q68CN7	Missense_Mutation	SNP	ENST00000359798.4	37	c.2237A>G	CCDS46167.1	.	.	.	.	.	.	.	.	.	.	.	0.234	-1.018627	0.02078	.	.	ENSG00000198482	ENST00000359798	T	0.35605	1.3	1.51	-1.23	0.09465	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11452	0.0279	N	0.02960	-0.455	0.09310	N	1	B	0.02656	0.0	B	0.14023	0.01	T	0.27938	-1.0059	9	0.12766	T	0.61	.	2.4828	0.04591	0.4821:0.0:0.3048:0.2131	.	746	Q8N4W9	ZN808_HUMAN	R	746	ENSP00000352846:Q746R	ENSP00000352846:Q746R	Q	+	2	0	ZNF808	57750218	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.825000	0.04433	-0.729000	0.04875	-1.309000	0.01313	CAG		0.458	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886		31	267	0	0	0	1	0	31	267				
COQ5	84274	broad.mit.edu	37	12	120942767	120942767	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:120942767C>T	ENST00000288532.6	-	5	741	c.701G>A	c.(700-702)cGg>cAg	p.R234Q	Y_RNA_ENST00000410669.1_RNA|COQ5_ENST00000445328.2_Missense_Mutation_p.R160Q	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	234					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTTCAGCACCCGATGAGCTTC	0.478																																						ENST00000288532.6																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20						c.(700-702)cGg>cAg		coenzyme Q5 homolog, methyltransferase (S. cerevisiae)							104.0	85.0	92.0					12																	120942767		2203	4300	6503	SO:0001583	missense	84274				ubiquinone biosynthetic process	mitochondrion	methyltransferase activity	g.chr12:120942767C>T	AK057777	CCDS31912.1	12q24.31	2011-09-16	2006-04-04		ENSG00000110871	ENSG00000110871	2.1.1.201		28722	protein-coding gene	gene with protein product	"""2-methoxy-6-polyprenyl-1,4-benzoquinol methylase"""		"""coenzyme Q5 homolog, methyltransferase (yeast)"""				Standard	NM_032314		Approved	MGC4767	uc001tyn.3	Q5HYK3	OTTHUMG00000169375	ENST00000288532.6:c.701G>A	12.37:g.120942767C>T	ENSP00000288532:p.Arg234Gln					COQ5_ENST00000445328.2_Missense_Mutation_p.R160Q	p.R234Q	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN			5	741	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		234					B4DEJ4|Q32Q28|Q53HH0|Q96LV1|Q9BSP8	Missense_Mutation	SNP	ENST00000288532.6	37	c.701G>A	CCDS31912.1	.	.	.	.	.	.	.	.	.	.	C	35	5.477011	0.96291	.	.	ENSG00000110871	ENST00000288532;ENST00000445328;ENST00000552443	T;T;T	0.75050	-0.9;-0.9;-0.9	5.45	5.45	0.79879	UbiE/COQ5 methyltransferase, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.91243	0.7240	H	0.96662	3.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93965	0.7244	10	0.87932	D	0	.	18.1304	0.89599	0.0:1.0:0.0:0.0	.	160;234	B4DP72;Q5HYK3	.;COQ5_HUMAN	Q	234;160;153	ENSP00000288532:R234Q;ENSP00000401798:R160Q;ENSP00000449863:R153Q	ENSP00000288532:R234Q	R	-	2	0	COQ5	119427150	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	6.917000	0.75782	2.552000	0.86080	0.558000	0.71614	CGG		0.478	COQ5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403767.2	NM_032314		24	35	0	0	0	1	0	24	35				
SRCAP	10847	broad.mit.edu	37	16	30723592	30723592	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:30723592C>T	ENST00000262518.4	+	13	2210	c.1825C>T	c.(1825-1827)Ccc>Tcc	p.P609S	SRCAP_ENST00000344771.4_Missense_Mutation_p.P609S|SRCAP_ENST00000395059.2_Missense_Mutation_p.P609S|SNORA30_ENST00000384028.1_RNA	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	609					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGTAAAGACGCCCATTCCCCT	0.498																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(1825-1827)Ccc>Tcc		Snf2-related CREBBP activator protein							88.0	84.0	86.0					16																	30723592		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30723592C>T	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.1825C>T	16.37:g.30723592C>T	ENSP00000262518:p.Pro609Ser					SRCAP_ENST00000395059.2_Missense_Mutation_p.P609S|SRCAP_ENST00000344771.4_Missense_Mutation_p.P609S	p.P609S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		13	2210	+			609					B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.1825C>T	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	13.27	2.187984	0.38609	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.93366	-3.21;-3.21;-3.21	5.1	5.1	0.69264	.	0.000000	0.56097	D	0.000028	D	0.94149	0.8123	L	0.39245	1.2	0.58432	D	0.99999	P;D;D	0.76494	0.676;0.999;0.999	P;D;D	0.69479	0.619;0.964;0.922	D	0.93486	0.6831	10	0.52906	T	0.07	-12.9187	12.832	0.57750	0.1635:0.8365:0.0:0.0	.	609;609;609	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	S	609	ENSP00000262518:P609S;ENSP00000378499:P609S;ENSP00000343042:P609S	ENSP00000262518:P609S	P	+	1	0	SRCAP	30631093	0.915000	0.31059	0.752000	0.31206	0.775000	0.43874	3.120000	0.50430	2.814000	0.96858	0.563000	0.77884	CCC		0.498	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		9	156	0	0	0	1	0	9	156				
RTKN2	219790	broad.mit.edu	37	10	64000924	64000924	+	Missense_Mutation	SNP	G	G	A	rs377435237		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:64000924G>A	ENST00000373789.3	-	4	443	c.347C>T	c.(346-348)tCt>tTt	p.S116F	RTKN2_ENST00000395260.3_Missense_Mutation_p.S116F|RTKN2_ENST00000395265.1_Missense_Mutation_p.S116F	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	116					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					GAAGTGATCAGAGTCTTTCCA	0.289																																						ENST00000373789.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(346-348)tCt>tTt		rhotekin 2							52.0	54.0	53.0					10																	64000924		2202	4285	6487	SO:0001583	missense	219790				signal transduction	intracellular		g.chr10:64000924G>A	BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"""Pleckstrin homology (PH) domain containing"""	19364	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family K member 1"""	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.347C>T	10.37:g.64000924G>A	ENSP00000362894:p.Ser116Phe					RTKN2_ENST00000395265.1_Missense_Mutation_p.S116F|RTKN2_ENST00000395260.3_Missense_Mutation_p.S116F	p.S116F	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN			4	443	-	Prostate(12;0.0297)|all_hematologic(501;0.215)		116					Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Missense_Mutation	SNP	ENST00000373789.3	37	c.347C>T	CCDS7263.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008739	0.75046	.	.	ENSG00000182010	ENST00000395265;ENST00000373789;ENST00000395260	T;T;T	0.51325	0.71;0.71;0.71	5.95	4.11	0.48088	.	0.096519	0.85682	D	0.000000	T	0.68091	0.2963	M	0.77103	2.36	0.41034	D	0.985179	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.71391	-0.4607	10	0.59425	D	0.04	0.0013	13.3253	0.60457	0.0:0.1214:0.752:0.1266	.	116;116	Q8IZC4-3;Q8IZC4	.;RTKN2_HUMAN	F	116	ENSP00000378682:S116F;ENSP00000362894:S116F;ENSP00000378678:S116F	ENSP00000362894:S116F	S	-	2	0	RTKN2	63670930	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	4.954000	0.63631	0.859000	0.35456	0.655000	0.94253	TCT		0.289	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307		4	31	0	0	0	1	0	4	31				
NBAS	51594	broad.mit.edu	37	2	15514777	15514777	+	Missense_Mutation	SNP	C	C	T	rs543195772		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:15514777C>T	ENST00000281513.5	-	31	3683	c.3658G>A	c.(3658-3660)Gtt>Att	p.V1220I	NBAS_ENST00000441750.1_Missense_Mutation_p.V1100I	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1220					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.V1220I(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AGACATCCAACGGCTTGGATA	0.378													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18082	0.0		0.0	False		,,,				2504	0.0					ENST00000281513.5																			1	Substitution - Missense(1)	p.V1220I(1)	pancreas(1)	NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(3658-3660)Gtt>Att		neuroblastoma amplified sequence							146.0	154.0	151.0					2																	15514777		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15514777C>T	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.3658G>A	2.37:g.15514777C>T	ENSP00000281513:p.Val1220Ile					NBAS_ENST00000441750.1_Missense_Mutation_p.V1100I	p.V1220I	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			31	3683	-			1220					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.3658G>A	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.765947	0.49574	.	.	ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000441755	T;T;T	0.16457	2.34;2.34;2.34	5.73	3.91	0.45181	Secretory pathway Sec39 (1);	0.113843	0.64402	D	0.000009	T	0.09158	0.0226	N	0.08118	0	0.24410	N	0.994666	P;B	0.36222	0.544;0.115	B;B	0.26416	0.069;0.035	T	0.08848	-1.0702	10	0.87932	D	0	.	16.2737	0.82632	0.0:0.261:0.7389:0.0	.	1100;1220	A2RRP1-2;A2RRP1	.;NBAS_HUMAN	I	1100;1220;267	ENSP00000413201:V1100I;ENSP00000281513:V1220I;ENSP00000396501:V267I	ENSP00000281513:V1220I	V	-	1	0	NBAS	15432228	1.000000	0.71417	0.897000	0.35233	0.987000	0.75469	3.507000	0.53371	0.746000	0.32786	-0.165000	0.13383	GTT		0.378	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		93	113	0	0	0	1	0	93	113				
SH3BP4	23677	broad.mit.edu	37	2	235951474	235951474	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:235951474C>T	ENST00000409212.1	+	4	2568	c.2061C>T	c.(2059-2061)agC>agT	p.S687S	SH3BP4_ENST00000344528.4_Silent_p.S687S|SH3BP4_ENST00000392011.2_Silent_p.S687S			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	687					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CCCTGCTCAGCGAGGAGCGGG	0.612																																						ENST00000409212.1																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44						c.(2059-2061)agC>agT		SH3-domain binding protein 4							48.0	49.0	49.0					2																	235951474		2203	4300	6503	SO:0001819	synonymous_variant	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235951474C>T	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.2061C>T	2.37:g.235951474C>T						SH3BP4_ENST00000392011.2_Silent_p.S687S|SH3BP4_ENST00000344528.4_Silent_p.S687S	p.S687S			Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	4	2568	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	687					O95082|Q309A3|Q53QD0|Q53TD1	Silent	SNP	ENST00000409212.1	37	c.2061C>T	CCDS2513.1																																																																																				0.612	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			40	35	0	0	0	1	0	40	35				
MUC5B	727897	broad.mit.edu	37	11	1279559	1279559	+	Splice_Site	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:1279559G>A	ENST00000529681.1	+	43	16613		c.e43-1		MUC5B_ENST00000447027.1_Splice_Site	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming						cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TTTCCTTCCAGGACCTCAGCT	0.637																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.e43-1		mucin 5B, oligomeric mucus/gel-forming							49.0	56.0	54.0					11																	1279559		2060	4190	6250	SO:0001630	splice_region_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1279559G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.16556-1G>A	11.37:g.1279559G>A						MUC5B_ENST00000529681.1_Splice_Site				Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	43	16622	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)						O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Splice_Site	SNP	ENST00000529681.1	37		CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	11.92	1.781438	0.31502	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000546052;ENST00000406844;ENST00000526859	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1836	0.65590	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MUC5B	1236135	0.023000	0.18921	0.190000	0.23270	0.013000	0.08279	1.814000	0.38972	2.500000	0.84329	0.462000	0.41574	.		0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	Intron	6	45	0	0	0	1	0	6	45				
GRB14	2888	broad.mit.edu	37	2	165378627	165378627	+	Splice_Site	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:165378627T>C	ENST00000263915.3	-	6	1217	c.679A>G	c.(679-681)Atg>Gtg	p.M227V	GRB14_ENST00000543549.1_Splice_Site_p.M140V	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	227					blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						CTCAGAAACATCTGAAAGAAA	0.269																																						ENST00000263915.3																			0				breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						c.e6-1		growth factor receptor-bound protein 14							32.0	35.0	34.0					2																	165378627		2193	4276	6469	SO:0001630	splice_region_variant	2888				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	g.chr2:165378627T>C		CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.679-1A>G	2.37:g.165378627T>C						GRB14_ENST00000543549.1_Splice_Site_p.M140_splice	p.M227_splice	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN			6	1217	-			227					B7Z7F9|Q7Z6I1	Splice_Site	SNP	ENST00000263915.3	37	c.678_splice	CCDS2222.1	.	.	.	.	.	.	.	.	.	.	T	2.253	-0.371047	0.05034	.	.	ENSG00000115290	ENST00000263915;ENST00000543549;ENST00000446413	T;T;T	0.28895	2.01;2.01;1.59	5.78	4.58	0.56647	.	0.197429	0.64402	N	0.000006	T	0.18087	0.0434	N	0.17474	0.49	0.38547	D	0.949364	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.07712	-1.0758	10	0.29301	T	0.29	-4.0836	9.4789	0.38889	0.0:0.1384:0.0:0.8616	.	140;227	B7Z7F9;Q14449	.;GRB14_HUMAN	V	227;140;182	ENSP00000263915:M227V;ENSP00000443699:M140V;ENSP00000416786:M182V	ENSP00000263915:M227V	M	-	1	0	GRB14	165086873	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.124000	0.64709	1.076000	0.40961	0.533000	0.62120	ATG		0.269	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2		Missense_Mutation	37	69	0	0	0	1	0	37	69				
PLTP	5360	broad.mit.edu	37	20	44533677	44533677	+	Silent	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:44533677C>A	ENST00000477313.1	-	8	1380	c.786G>T	c.(784-786)cgG>cgT	p.R262R	PLTP_ENST00000372431.3_Silent_p.R262R|PLTP_ENST00000420868.2_Silent_p.R167R|PLTP_ENST00000354050.4_Silent_p.R210R|PLTP_ENST00000542937.1_Silent_p.R282R|PLTP_ENST00000372420.1_Silent_p.R174R			P55058	PLTP_HUMAN	phospholipid transfer protein	262					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|sperm motility (GO:0030317)|vitamin E biosynthetic process (GO:0010189)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				CATACACCATCCGCTCTTCCT	0.627																																						ENST00000477313.1																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21						c.(784-786)cgG>cgT		phospholipid transfer protein							72.0	74.0	73.0					20																	44533677		2203	4300	6503	SO:0001819	synonymous_variant	5360				cellular lipid metabolic process|lipid transport	extracellular region	lipid binding	g.chr20:44533677C>A	L26232	CCDS13386.1, CCDS13387.1, CCDS56196.1, CCDS56197.1	20q13.12	2011-08-16			ENSG00000100979	ENSG00000100979		"""BPI fold containing"""	9093	protein-coding gene	gene with protein product	"""BPI fold containing family E"""	172425					Standard	NM_006227		Approved	BPIFE	uc002xqn.2	P55058	OTTHUMG00000033047	ENST00000477313.1:c.786G>T	20.37:g.44533677C>A						PLTP_ENST00000372420.1_Silent_p.R174R|PLTP_ENST00000372431.3_Silent_p.R262R|PLTP_ENST00000542937.1_Silent_p.R282R|PLTP_ENST00000354050.4_Silent_p.R210R|PLTP_ENST00000420868.2_Silent_p.R167R	p.R262R			P55058	PLTP_HUMAN			8	1380	-		Myeloproliferative disorder(115;0.0122)	262					A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Silent	SNP	ENST00000477313.1	37	c.786G>T	CCDS13386.1																																																																																				0.627	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354633.1	NM_006227		13	93	1	0	7.03913e-09	1	7.86726e-09	13	93				
ZNF646	9726	broad.mit.edu	37	16	31094295	31094295	+	3'UTR	SNP	C	C	T	rs371608601		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:31094295C>T	ENST00000394979.2	+	0	7073				ZNF646_ENST00000300850.5_Missense_Mutation_p.A1794V			O15015	ZN646_HUMAN	zinc finger protein 646						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CCCCCAGGAGCCCCAGTGGCA	0.692																																						ENST00000300850.5																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(5380-5382)gCc>gTc		zinc finger protein 646		C	VAL/ALA	0,4384		0,0,2192	30.0	27.0	28.0		5381	3.5	1.0	16		28	1,8555		0,1,4277	no	missense	ZNF646	NM_014699.3	64	0,1,6469	TT,TC,CC		0.0117,0.0,0.0077	benign	1794/1833	31094295	1,12939	2192	4278	6470	SO:0001624	3_prime_UTR_variant	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31094295C>T	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.*1160C>T	16.37:g.31094295C>T						ZNF646_ENST00000394979.2_3'UTR	p.A1794V	NM_014699.3	NP_055514.3	O15015	ZN646_HUMAN			3	5670	+			1630					Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.5381C>T		.	.	.	.	.	.	.	.	.	.	C	15.38	2.815863	0.50527	0.0	1.17E-4	ENSG00000167395	ENST00000300850	T	0.09350	2.99	5.58	3.48	0.39840	.	.	.	.	.	T	0.08846	0.0219	.	.	.	0.54753	D	0.999983	B	0.28760	0.221	B	0.33295	0.161	T	0.23190	-1.0195	8	0.30078	T	0.28	-1.8301	7.334	0.26599	0.2399:0.6054:0.1547:0.0	.	1794	O15015-2	.	V	1794	ENSP00000300850:A1794V	ENSP00000300850:A1794V	A	+	2	0	ZNF646	31001796	0.027000	0.19231	0.988000	0.46212	0.929000	0.56500	0.166000	0.16583	1.339000	0.45563	0.655000	0.94253	GCC		0.692	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		3	13	0	0	0	1	0	3	13				
WDFY1	57590	broad.mit.edu	37	2	224777016	224777016	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:224777016T>C	ENST00000233055.4	-	3	335	c.233A>G	c.(232-234)cAt>cGt	p.H78R		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	78						cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		TCTGCTGTCATGATGGTAAGC	0.368																																						ENST00000233055.4																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18						c.(232-234)cAt>cGt		WD repeat and FYVE domain containing 1							101.0	96.0	98.0					2																	224777016		2203	4300	6503	SO:0001583	missense	57590					cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding	g.chr2:224777016T>C	AB037856	CCDS33387.1	2q36.2	2013-01-09	2003-03-13		ENSG00000085449	ENSG00000085449		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20451	protein-coding gene	gene with protein product			"""WD40 and FYVE domain containing 1"""			11739631	Standard	NM_020830		Approved	KIAA1435, FENS-1, WDF1, ZFYVE17	uc002vnq.3	Q8IWB7	OTTHUMG00000153370	ENST00000233055.4:c.233A>G	2.37:g.224777016T>C	ENSP00000233055:p.His78Arg						p.H78R	NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)	3	335	-		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)	78					Q53S17|Q9H9D5|Q9P2B3	Missense_Mutation	SNP	ENST00000233055.4	37	c.233A>G	CCDS33387.1	.	.	.	.	.	.	.	.	.	.	T	14.30	2.493526	0.44352	.	.	ENSG00000085449	ENST00000233055	T	0.28454	1.61	5.95	5.95	0.96441	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.053333	0.85682	D	0.000000	T	0.32793	0.0841	L	0.50333	1.59	0.80722	D	1	B	0.30068	0.267	B	0.30401	0.115	T	0.07809	-1.0753	10	0.56958	D	0.05	-15.4633	16.0937	0.81106	0.0:0.0:0.0:1.0	.	78	Q8IWB7	WDFY1_HUMAN	R	78	ENSP00000233055:H78R	ENSP00000233055:H78R	H	-	2	0	WDFY1	224485260	1.000000	0.71417	0.959000	0.39883	0.994000	0.84299	5.258000	0.65479	2.281000	0.76405	0.528000	0.53228	CAT		0.368	WDFY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330908.1	NM_020830		5	88	0	0	0	1	0	5	88				
JKAMP	51528	broad.mit.edu	37	14	59967980	59967980	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:59967980A>G	ENST00000261247.9	+	6	859	c.712A>G	c.(712-714)Ata>Gta	p.I238V	JKAMP_ENST00000356057.5_Missense_Mutation_p.I246V|RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000554271.1_Missense_Mutation_p.I252V|JKAMP_ENST00000425728.2_Missense_Mutation_p.I232V	NM_001098625.1|NM_001284203.1|NM_016475.3	NP_001092095.1|NP_001271132.1|NP_057559.2	Q9P055	JKAMP_HUMAN	JNK1/MAPK8-associated membrane protein	253					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						TGCTTCTGAAATAGAGGTAGG	0.313																																						ENST00000554271.1																			0				breast(1)|endometrium(1)|kidney(1)|lung(3)	6						c.(754-756)Ata>Gta		JNK1/MAPK8-associated membrane protein							163.0	141.0	148.0					14																	59967980		1822	4089	5911	SO:0001583	missense	51528				ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding	g.chr14:59967980A>G	AF212245	CCDS45116.1, CCDS45117.1, CCDS61462.1, CCDS61463.1	14q22.3	2014-02-14	2009-08-13	2009-08-13	ENSG00000050130	ENSG00000050130			20184	protein-coding gene	gene with protein product	"""Jun N-terminal kinase 1-associated membrane protein"""	611176	"""chromosome 14 open reading frame 100"""	C14orf100		16166642, 19269966	Standard	NM_001284202		Approved	HSPC213, JAMP, HSPC327, CDA06	uc001xef.4	Q9P055	OTTHUMG00000171054	ENST00000261247.9:c.712A>G	14.37:g.59967980A>G	ENSP00000261247:p.Ile238Val					RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000425728.2_Missense_Mutation_p.I232V|JKAMP_ENST00000356057.5_Missense_Mutation_p.I246V|JKAMP_ENST00000261247.9_Missense_Mutation_p.I238V	p.I252V			Q9P055	JKAMP_HUMAN			6	1280	+			253					B4DP67|Q6FIB6|Q6IAJ2|Q7Z5D4|Q86SY6|Q9H0Q6|Q9H2W0|Q9HAH5|Q9P0R3	Missense_Mutation	SNP	ENST00000261247.9	37	c.754A>G	CCDS45116.1	.	.	.	.	.	.	.	.	.	.	A	7.391	0.630741	0.14322	.	.	ENSG00000050130	ENST00000261247;ENST00000425728;ENST00000554271;ENST00000554795;ENST00000356057	.	.	.	5.82	5.82	0.92795	.	0.041414	0.85682	D	0.000000	T	0.35068	0.0919	N	0.15975	0.35	0.58432	D	0.999999	B;B;B;B;B	0.11235	0.004;0.003;0.002;0.003;0.002	B;B;B;B;B	0.17722	0.019;0.011;0.011;0.011;0.007	T	0.24548	-1.0157	9	0.02654	T	1	-36.6989	10.8065	0.46520	0.9211:0.0:0.0789:0.0	.	253;252;232;246;238	Q9P055;G3V2M4;Q9P055-3;Q9P055-5;Q9P055-4	JKAMP_HUMAN;.;.;.;.	V	238;232;252;246;246	.	ENSP00000261247:I238V	I	+	1	0	JKAMP	59037733	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.171000	0.77595	2.222000	0.72286	0.533000	0.62120	ATA		0.313	JKAMP-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411430.1	NM_001098625		27	35	0	0	0	1	0	27	35				
PRMT2	3275	broad.mit.edu	37	21	48078707	48078707	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr21:48078707G>T	ENST00000397637.1	+	7	1659	c.705G>T	c.(703-705)aaG>aaT	p.K235N	PRMT2_ENST00000458387.2_Intron|PRMT2_ENST00000440086.1_Intron|PRMT2_ENST00000355680.3_Missense_Mutation_p.K235N|PRMT2_ENST00000397638.2_Missense_Mutation_p.K235N|PRMT2_ENST00000451211.2_Missense_Mutation_p.K235N|PRMT2_ENST00000291705.6_Intron			P55345	ANM2_HUMAN	protein arginine methyltransferase 2	235	Interaction with ESR1.|SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				developmental cell growth (GO:0048588)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|protein methylation (GO:0006479)|regulation of androgen receptor signaling pathway (GO:0060765)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (GO:0042054)|histone-arginine N-methyltransferase activity (GO:0008469)|peroxisome proliferator activated receptor binding (GO:0042975)|progesterone receptor binding (GO:0033142)|protein homodimerization activity (GO:0042803)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|retinoic acid receptor binding (GO:0042974)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		CCTGGCTGAAGGAGGACGGGG	0.562																																						ENST00000397637.1																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(703-705)aaG>aaT		protein arginine methyltransferase 2							180.0	127.0	145.0					21																	48078707		2203	4300	6503	SO:0001583	missense	3275				developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity	g.chr21:48078707G>T	U80213	CCDS13737.1, CCDS56219.1, CCDS56220.1, CCDS68230.1, CCDS68231.1, CCDS74806.1	21q22.3	2014-06-12	2006-02-16	2006-02-16	ENSG00000160310	ENSG00000160310	2.1.1.125	"""Protein arginine methyltransferases"""	5186	protein-coding gene	gene with protein product		601961	"""HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 1"", ""HMT1 hnRNP methyltransferase-like 1 (S. cerevisiae)"""	HRMT1L1		9545638	Standard	XM_005261111		Approved	MGC111373	uc002zjy.3	P55345	OTTHUMG00000048806	ENST00000397637.1:c.705G>T	21.37:g.48078707G>T	ENSP00000380759:p.Lys235Asn					PRMT2_ENST00000291705.6_Intron|PRMT2_ENST00000451211.2_Missense_Mutation_p.K235N|PRMT2_ENST00000397638.2_Missense_Mutation_p.K235N|PRMT2_ENST00000440086.1_Intron|PRMT2_ENST00000458387.2_Intron|PRMT2_ENST00000355680.3_Missense_Mutation_p.K235N	p.K235N			P55345	ANM2_HUMAN		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)	7	1659	+	Breast(49;0.247)	Lung NSC(3;0.245)	235			Interaction with ESR1.		B7U630|B7U631|B7U632|P78350|Q498Y5|Q5U7D4|Q6FHF0|Q99781|Q9BW15|Q9UMC2	Missense_Mutation	SNP	ENST00000397637.1	37	c.705G>T	CCDS13737.1	.	.	.	.	.	.	.	.	.	.	.	18.73	3.686930	0.68157	.	.	ENSG00000160310	ENST00000355680;ENST00000397638;ENST00000451211;ENST00000397637;ENST00000379844	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	5.14	2.21	0.28008	.	0.052343	0.64402	D	0.000001	T	0.49592	0.1566	M	0.71206	2.165	0.80722	D	1	D;D;D	0.76494	0.986;0.998;0.999	P;D;D	0.72625	0.642;0.937;0.978	T	0.48658	-0.9016	9	.	.	.	-9.1279	3.823	0.08843	0.2765:0.1848:0.5387:0.0	.	235;121;235	B7U630;Q49AF9;P55345	.;.;ANM2_HUMAN	N	235;235;235;235;121	ENSP00000347906:K235N;ENSP00000380760:K235N;ENSP00000411984:K235N;ENSP00000380759:K235N	.	K	+	3	2	PRMT2	46903135	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	1.022000	0.30052	1.319000	0.45190	0.563000	0.77884	AAG		0.562	PRMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207401.1	NM_001535		12	25	1	0	1.61879e-10	1	1.84542e-10	12	25				
TTN	7273	broad.mit.edu	37	2	179604446	179604446	+	Missense_Mutation	SNP	T	T	C	rs376924571		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:179604446T>C	ENST00000591111.1	-	46	12787	c.12563A>G	c.(12562-12564)gAa>gGa	p.E4188G	TTN_ENST00000342175.6_Missense_Mutation_p.E4334G|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E4142G|TTN_ENST00000359218.5_Missense_Mutation_p.E4267G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E4505G|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCCATTTCTTCTTGCAAACT	0.378																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(13513-13515)gAa>gGa		titin		T	GLY/GLU,,GLY/GLU,GLY/GLU	0,3688		0,0,1844	168.0	166.0	166.0		12425,,12800,13001	-1.7	0.0	2		166	1,8193		0,1,4096	no	missense,intron,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	98,,98,98	0,1,5940	CC,CT,TT		0.0122,0.0,0.0084	,,,	4142/26927,,4267/27052,4334/27119	179604446	1,11881	1844	4097	5941	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179604446T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.12563A>G	2.37:g.179604446T>C	ENSP00000465570:p.Glu4188Gly					TTN_ENST00000460472.2_Missense_Mutation_p.E4142G|TTN_ENST00000342175.6_Missense_Mutation_p.E4334G|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E4267G|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E4188G|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA	p.E4505G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		48	13738	-			4188			Ig-like 25.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.13514A>G		.	.	.	.	.	.	.	.	.	.	T	4.830	0.154379	0.09236	0.0	1.22E-4	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.61510	0.11;0.1;0.1	5.24	-1.67	0.08238	.	.	.	.	.	T	0.42988	0.1227	L	0.38531	1.155	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.35325	-0.9793	9	0.87932	D	0	.	6.8262	0.23885	0.0:0.3682:0.1237:0.5081	.	4142;4267;4334	D3DPF9;E7EQE6;E7ET18	.;.;.	G	4142;4334;4267;4142	ENSP00000434586:E4142G;ENSP00000340554:E4334G;ENSP00000352154:E4267G	ENSP00000340554:E4334G	E	-	2	0	TTN	179312691	0.011000	0.17503	0.001000	0.08648	0.364000	0.29643	0.245000	0.18142	-0.561000	0.06094	0.533000	0.62120	GAA		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		114	130	0	0	0	1	0	114	130				
OLFM2	93145	broad.mit.edu	37	19	9965527	9965527	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:9965527C>A	ENST00000264833.4	-	6	885	c.700G>T	c.(700-702)Gat>Tat	p.D234Y	OLFM2_ENST00000590841.1_Missense_Mutation_p.D156Y	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	234	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						TAATAGCCATCCATGTACCAG	0.587																																						ENST00000264833.4																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						c.(700-702)Gat>Tat		olfactomedin 2							14.0	16.0	16.0					19																	9965527		2201	4297	6498	SO:0001583	missense	93145					extracellular region		g.chr19:9965527C>A	AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"""noelin 2"""						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.700G>T	19.37:g.9965527C>A	ENSP00000264833:p.Asp234Tyr					OLFM2_ENST00000590841.1_Missense_Mutation_p.D156Y	p.D234Y	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN			6	885	-			234			Olfactomedin-like.		Q6IMJ3|Q96FC2	Missense_Mutation	SNP	ENST00000264833.4	37	c.700G>T	CCDS12221.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943765	0.73672	.	.	ENSG00000105088	ENST00000264833	D	0.89617	-2.54	4.45	4.45	0.53987	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.94928	0.8360	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95511	0.8586	9	.	.	.	.	14.6457	0.68759	0.0:1.0:0.0:0.0	.	234	O95897	NOE2_HUMAN	Y	234	ENSP00000264833:D234Y	.	D	-	1	0	OLFM2	9826527	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.540000	0.82074	2.291000	0.77112	0.561000	0.74099	GAT		0.587	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1			3	16	1	0	2.56e-06	1	2.76888e-06	3	16				
ANKDD1A	348094	broad.mit.edu	37	15	65226380	65226380	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:65226380G>T	ENST00000380230.3	+	9	842	c.813G>T	c.(811-813)gaG>gaT	p.E271D	ANKDD1A_ENST00000395720.1_Missense_Mutation_p.E271D|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.E271D|ANKDD1A_ENST00000395723.1_Missense_Mutation_p.E180D	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	271					signal transduction (GO:0007165)					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						GTGGCTCGGAGGATGTGTCTC	0.527																																						ENST00000380230.3																			0				NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						c.(811-813)gaG>gaT		ankyrin repeat and death domain containing 1A							131.0	111.0	118.0					15																	65226380		2202	4299	6501	SO:0001583	missense	348094				signal transduction			g.chr15:65226380G>T		CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"""Ankyrin repeat domain containing"""	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.813G>T	15.37:g.65226380G>T	ENSP00000369579:p.Glu271Asp					ANKDD1A_ENST00000395723.1_Missense_Mutation_p.E180D|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.E271D|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.E271D	p.E271D	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN			9	842	+			271					Q495B2|Q495B3|Q8N7A0|Q8NBS5	Missense_Mutation	SNP	ENST00000380230.3	37	c.813G>T	CCDS10197.2	.	.	.	.	.	.	.	.	.	.	G	0.703	-0.790050	0.02884	.	.	ENSG00000166839	ENST00000380230;ENST00000357698;ENST00000395720;ENST00000395723	T;T;T;T	0.65364	-0.15;-0.14;-0.15;-0.14	3.9	1.82	0.25136	Ankyrin repeat-containing domain (3);	0.289733	0.27682	N	0.018291	T	0.43634	0.1256	L	0.42245	1.32	0.49915	D	0.999832	B	0.13145	0.007	B	0.16289	0.015	T	0.15235	-1.0444	10	0.15499	T	0.54	-4.8196	2.8503	0.05555	0.2393:0.0:0.5388:0.2219	.	271	Q495B1	AKD1A_HUMAN	D	271;271;271;180	ENSP00000369579:E271D;ENSP00000350329:E271D;ENSP00000379070:E271D;ENSP00000379073:E180D	ENSP00000350329:E271D	E	+	3	2	ANKDD1A	63013433	1.000000	0.71417	0.312000	0.25196	0.047000	0.14425	1.016000	0.29976	0.983000	0.38602	0.591000	0.81541	GAG		0.527	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256705.2	NM_182703		12	56	1	0	8.60227e-14	1	1.00891e-13	12	56				
CBX2	84733	broad.mit.edu	37	17	77758304	77758304	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:77758304G>T	ENST00000310942.4	+	5	1166	c.1062G>T	c.(1060-1062)caG>caT	p.Q354H		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	354					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|development of primary sexual characteristics (GO:0045137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TGAGCCTCCAGGTCTTGGACT	0.701																																						ENST00000310942.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16						c.(1060-1062)caG>caT		chromobox homolog 2							18.0	24.0	22.0					17																	77758304		2180	4258	6438	SO:0001583	missense	84733				cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding	g.chr17:77758304G>T	BC004252, BG354579	CCDS11764.1, CCDS32757.1	17q25.3	2010-07-06	2010-06-24		ENSG00000173894	ENSG00000173894			1552	protein-coding gene	gene with protein product	"""Pc class homolog (Drosophila)"""	602770	"""chromobox homolog 2 (Drosophila Pc class)"", ""cell division cycle associated 6"""	CDCA6		7782071, 2477932	Standard	NM_005189		Approved	MGC10561	uc002jxc.3	Q14781		ENST00000310942.4:c.1062G>T	17.37:g.77758304G>T	ENSP00000308750:p.Gln354His						p.Q354H	NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	1166	+			354					Q0VDA5|Q9BTB1	Missense_Mutation	SNP	ENST00000310942.4	37	c.1062G>T	CCDS32757.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.259052	0.39896	.	.	ENSG00000173894	ENST00000310942	.	.	.	4.86	1.82	0.25136	.	2.419850	0.01589	N	0.021477	T	0.48352	0.1495	L	0.29908	0.895	0.80722	D	1	B	0.11235	0.004	B	0.11329	0.006	T	0.36089	-0.9762	9	0.66056	D	0.02	-6.483	6.2858	0.21033	0.2793:0.1309:0.5898:0.0	.	354	Q14781	CBX2_HUMAN	H	354	.	ENSP00000308750:Q354H	Q	+	3	2	CBX2	75372899	1.000000	0.71417	0.992000	0.48379	0.583000	0.36354	0.930000	0.28858	0.264000	0.21851	-0.264000	0.10439	CAG		0.701	CBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437040.1	NM_032647		13	29	1	0	0.00136819	1	0.00142312	13	29				
PTEN	5728	broad.mit.edu	37	10	89720852	89720852	+	Nonsense_Mutation	SNP	C	C	T	rs121909231		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:89720852C>T	ENST00000371953.3	+	8	2360	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	335	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R335*(25)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R335G(1)|p.W274_F341del(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAAAGCCAACCGATACTTTTC	0.333		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		77	Whole gene deletion(37)|Substitution - Nonsense(25)|Deletion - Frameshift(9)|Deletion - In frame(3)|Unknown(2)|Substitution - Missense(1)	p.0?(37)|p.R335*(25)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R335G(1)|p.W274_F341del(1)|p.D326_K342del(1)	central_nervous_system(25)|prostate(16)|skin(8)|haematopoietic_and_lymphoid_tissue(7)|endometrium(6)|lung(4)|breast(3)|ovary(3)|urinary_tract(2)|upper_aerodigestive_tract(1)|stomach(1)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM971278	PTEN	M	rs121909231	c.(1003-1005)Cga>Tga		phosphatase and tensin homolog							60.0	63.0	62.0					10																	89720852		2203	4298	6501	SO:0001587	stop_gained	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720852C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.1003C>T	10.37:g.89720852C>T	ENSP00000361021:p.Arg335*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_ENST00000472832.1_3'UTR	p.R335*	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	8	2360	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	335			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.1003C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	48	14.209601	0.99784	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.37	4.39	0.52855	.	0.053988	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4934	12.825	0.57714	0.2831:0.7169:0.0:0.0	.	.	.	.	X	335	.	.	R	+	1	2	PTEN	89710832	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.629000	0.46485	2.516000	0.84829	0.591000	0.81541	CGA		0.333	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		69	21	0	0	0	1	0	69	21				
SPINT2	10653	broad.mit.edu	37	19	38780887	38780887	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:38780887C>T	ENST00000301244.7	+	5	955	c.520C>T	c.(520-522)Cgc>Tgc	p.R174C	CTB-102L5.4_ENST00000591889.1_Silent_p.T51T|SPINT2_ENST00000454580.3_Missense_Mutation_p.R117C|SPINT2_ENST00000587090.1_Missense_Mutation_p.R124C	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	serine peptidase inhibitor, Kunitz type, 2	174	BPTI/Kunitz inhibitor 2. {ECO:0000255|PROSITE-ProRule:PRU00031}.				cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GAACAGCTACCGCTCTGAGGA	0.602																																						ENST00000301244.7																			0				large_intestine(2)|lung(1)|ovary(1)	4						c.(520-522)Cgc>Tgc		serine peptidase inhibitor, Kunitz type, 2							49.0	49.0	49.0					19																	38780887		2203	4300	6503	SO:0001583	missense	10653				cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity	g.chr19:38780887C>T	U78095	CCDS12510.1, CCDS54261.1	19q13.2	2010-05-12	2005-08-17		ENSG00000167642	ENSG00000167642			11247	protein-coding gene	gene with protein product	"""placental bikunin"""	605124	"""serine protease inhibitor, Kunitz type, 2"""			9115294, 9346890	Standard	NM_021102		Approved	Kop, HAI-2	uc002ohr.2	O43291		ENST00000301244.7:c.520C>T	19.37:g.38780887C>T	ENSP00000301244:p.Arg174Cys					SPINT2_ENST00000454580.3_Missense_Mutation_p.R117C|SPINT2_ENST00000587090.1_Missense_Mutation_p.R124C|CTB-102L5.4_ENST00000591889.1_Silent_p.T51T	p.R174C	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		5	955	+	all_cancers(60;6.83e-07)		174			BPTI/Kunitz inhibitor 2.		A8K667|B4DLU1|O00271|O14895|Q5TZQ3|Q969E0	Missense_Mutation	SNP	ENST00000301244.7	37	c.520C>T	CCDS12510.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.609935	0.28712	.	.	ENSG00000167642	ENST00000301244;ENST00000454580	T;T	0.58358	0.34;0.34	5.55	2.2	0.27929	Proteinase inhibitor I2, Kunitz metazoa (5);Proteinase inhibitor I2, Kunitz, conserved site (1);	1.154770	0.06361	N	0.711715	T	0.56366	0.1980	M	0.69358	2.11	0.09310	N	1	D;D	0.57571	0.975;0.98	P;P	0.48901	0.594;0.553	T	0.41305	-0.9516	10	0.59425	D	0.04	.	4.4543	0.11635	0.1598:0.6024:0.1541:0.0838	.	117;174	B4DLU1;O43291	.;SPIT2_HUMAN	C	174;117	ENSP00000301244:R174C;ENSP00000389788:R117C	ENSP00000301244:R174C	R	+	1	0	SPINT2	43472727	0.000000	0.05858	0.007000	0.13788	0.024000	0.10985	0.111000	0.15458	0.285000	0.22329	-0.165000	0.13383	CGC		0.602	SPINT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458151.2			6	34	0	0	0	1	0	6	34				
CEP131	22994	broad.mit.edu	37	17	79182779	79182779	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:79182779C>A	ENST00000269392.4	-	3	468	c.221G>T	c.(220-222)aGa>aTa	p.R74I	AZI1_ENST00000374782.3_Missense_Mutation_p.R74I|AZI1_ENST00000450824.2_Missense_Mutation_p.R74I|AZI1_ENST00000575907.1_Missense_Mutation_p.R74I	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		74					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GTTGGATCTTCTAAGGTTGTT	0.587																																						ENST00000269392.4																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36						c.(220-222)aGa>aTa		5-azacytidine induced 1							79.0	77.0	78.0					17																	79182779		2203	4300	6503	SO:0001583	missense	22994				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		g.chr17:79182779C>A																												ENST00000269392.4:c.221G>T	17.37:g.79182779C>A	ENSP00000269392:p.Arg74Ile					AZI1_ENST00000575907.1_Missense_Mutation_p.R74I|AZI1_ENST00000374782.3_Missense_Mutation_p.R74I|AZI1_ENST00000450824.2_Missense_Mutation_p.R74I	p.R74I	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		3	468	-	all_neural(118;0.0804)|Melanoma(429;0.242)		74					A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	ENST00000269392.4	37	c.221G>T		.	.	.	.	.	.	.	.	.	.	C	15.84	2.952517	0.53293	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.25085	1.82;1.82;1.82	4.75	4.75	0.60458	.	0.000000	0.64402	D	0.000001	T	0.48786	0.1519	M	0.61703	1.905	0.45046	D	0.998061	D;D;D;D	0.76494	0.992;0.992;0.997;0.999	P;P;P;D	0.87578	0.79;0.79;0.852;0.998	T	0.51911	-0.8645	10	0.87932	D	0	-9.0085	15.5312	0.75964	0.0:1.0:0.0:0.0	.	74;74;74;74	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	I	74	ENSP00000393583:R74I;ENSP00000363914:R74I;ENSP00000269392:R74I	ENSP00000269392:R74I	R	-	2	0	AZI1	76797374	0.987000	0.35691	0.349000	0.25694	0.026000	0.11368	6.066000	0.71185	2.178000	0.69098	0.492000	0.49549	AGA		0.587	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1			13	14	1	0	1.05317e-09	1	1.18873e-09	13	14				
IGHV3-43	28426	broad.mit.edu	37	14	106926491	106926491	+	RNA	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:106926491G>A	ENST00000434710.1	-	0	130									immunoglobulin heavy variable 3-43																		CTTCACACTGGACACCTGCAA	0.517																																						ENST00000434710.1																			0																				179.0	115.0	136.0					14																	106926491		2048	4159	6207			28426							g.chr14:106926491G>A	M99672		14q32.33	2012-02-08			ENSG00000232216	ENSG00000232216		"""Immunoglobulins / IGH locus"""	5604	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152094		14.37:g.106926491G>A														0	130	-									RNA	SNP	ENST00000434710.1	37																																																																																						0.517	IGHV3-43-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325191.1	NG_001019		54	332	0	0	0	1	0	54	332				
MAP3K15	389840	broad.mit.edu	37	X	19389133	19389133	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chrX:19389133G>A	ENST00000338883.4	-	24	3343	c.3344C>T	c.(3343-3345)gCg>gTg	p.A1115V	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.A550V|MAP3K15_ENST00000469203.2_Missense_Mutation_p.A947V	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1115							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GTTGTCCATCGCGAACATCCA	0.433																																						ENST00000338883.4																			0				NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(3343-3345)gCg>gTg		mitogen-activated protein kinase kinase kinase 15							58.0	56.0	57.0					X																	19389133		2203	4300	6503	SO:0001583	missense	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19389133G>A	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.3344C>T	X.37:g.19389133G>A	ENSP00000345629:p.Ala1115Val					MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.A550V|MAP3K15_ENST00000469203.2_Missense_Mutation_p.A947V	p.A1115V	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN			24	3343	-	Hepatocellular(33;0.183)		1115					A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37	c.3344C>T		.	.	.	.	.	.	.	.	.	.	G	13.01	2.110001	0.37242	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.80653	-1.36;-1.4;-1.33	5.25	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.80513	0.4637	L	0.61036	1.89	0.80722	D	1	P;P	0.40909	0.732;0.65	B;B	0.44108	0.441;0.046	T	0.78715	-0.2096	10	0.37606	T	0.19	.	13.3493	0.60593	0.0787:0.0:0.9213:0.0	.	590;1115	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	V	1115;550;947	ENSP00000345629:A1115V;ENSP00000352093:A550V;ENSP00000428356:A947V	ENSP00000345629:A1115V	A	-	2	0	MAP3K15	19299054	1.000000	0.71417	0.351000	0.25721	0.357000	0.29423	6.321000	0.72881	1.114000	0.41781	0.556000	0.70494	GCG		0.433	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		12	51	0	0	0	1	0	12	51				
USP6	9098	broad.mit.edu	37	17	5074001	5074001	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:5074001C>T	ENST00000574788.1	+	36	5975	c.3745C>T	c.(3745-3747)Cgg>Tgg	p.R1249W	USP6_ENST00000304328.5_Missense_Mutation_p.R932W|USP6_ENST00000332776.4_3'UTR|USP6_ENST00000250066.6_Missense_Mutation_p.R1249W			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	1249	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AGGGCATATGCGGGGGGGCAG	0.542			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	ENST00000574788.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"""COL1A1, CDH11, ZNF9, OMD"""		aneurysmal bone cysts		0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(3745-3747)Cgg>Tgg		ubiquitin specific peptidase 6 (Tre-2 oncogene)							51.0	45.0	47.0					17																	5074001		2203	4300	6503	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5074001C>T	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.3745C>T	17.37:g.5074001C>T	ENSP00000460380:p.Arg1249Trp					USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Missense_Mutation_p.R932W|USP6_ENST00000250066.6_Missense_Mutation_p.R1249W	p.R1249W			P35125	UBP6_HUMAN			36	5975	+			1249					Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.3745C>T	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570646	0.28003	.	.	ENSG00000129204	ENST00000250066;ENST00000304328	T;T	0.14022	2.96;2.54	2.35	0.172	0.15031	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.221461	0.41294	D	0.000906	T	0.12178	0.0296	N	0.08118	0	0.18873	N	0.999987	D;D	0.89917	0.999;1.0	P;D	0.63703	0.784;0.917	T	0.09729	-1.0661	10	0.66056	D	0.02	.	5.6552	0.17639	0.0:0.6469:0.0:0.3531	.	932;1249	P35125-2;P35125	.;UBP6_HUMAN	W	1249;932	ENSP00000250066:R1249W;ENSP00000305473:R932W	ENSP00000250066:R1249W	R	+	1	2	USP6	5014725	0.000000	0.05858	0.911000	0.35937	0.154000	0.21943	-0.025000	0.12413	0.284000	0.22305	0.184000	0.17185	CGG		0.542	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		18	54	0	0	0	1	0	18	54				
ATP13A2	23400	broad.mit.edu	37	1	17316491	17316491	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:17316491T>C	ENST00000326735.8	-	22	2453	c.2420A>G	c.(2419-2421)gAc>gGc	p.D807G	ATP13A2_ENST00000341676.5_Intron|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000452699.1_Missense_Mutation_p.D802G			Q9NQ11	AT132_HUMAN	ATPase type 13A2	807					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TGCAGCCTGGTCAGGATCCTG	0.647																																						ENST00000452699.1																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2404-2406)gAc>gGc		ATPase type 13A2							23.0	27.0	25.0					1																	17316491		2202	4300	6502	SO:0001583	missense	23400				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr1:17316491T>C	AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"""ATPases / P-type"", ""Parkinson disease"""	30213	protein-coding gene	gene with protein product		610513	"""Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"""	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.2420A>G	1.37:g.17316491T>C	ENSP00000327214:p.Asp807Gly					ATP13A2_ENST00000341676.5_Intron|ATP13A2_ENST00000326735.8_Missense_Mutation_p.D807G|RP1-37C10.3_ENST00000446261.1_RNA	p.D802G	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	22	2594	-		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	807					O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	ENST00000326735.8	37	c.2405A>G	CCDS175.1	.	.	.	.	.	.	.	.	.	.	T	9.850	1.193441	0.22037	.	.	ENSG00000159363	ENST00000326735;ENST00000452699;ENST00000502418	D;D;D	0.96913	-3.05;-3.04;-4.17	4.8	-9.6	0.00553	HAD-like domain (1);	2.066990	0.01486	N	0.016866	D	0.91626	0.7354	L	0.58428	1.81	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.10450	0.001;0.005	T	0.79683	-0.1701	10	0.25106	T	0.35	-4.6437	0.2048	0.00149	0.3427:0.2298:0.1958:0.2316	.	802;807	Q6S9Z9;Q9NQ11	.;AT132_HUMAN	G	807;802;3	ENSP00000327214:D807G;ENSP00000413307:D802G;ENSP00000423065:D3G	ENSP00000327214:D807G	D	-	2	0	ATP13A2	17189078	0.000000	0.05858	0.061000	0.19648	0.353000	0.29299	-2.010000	0.01454	-1.727000	0.01368	-0.441000	0.05720	GAC		0.647	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089		13	2	0	0	0	1	0	13	2				
SLC22A6	9356	broad.mit.edu	37	11	62747316	62747316	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:62747316G>A	ENST00000377871.3	-	7	1408	c.1142C>T	c.(1141-1143)gCc>gTc	p.A381V	SLC22A6_ENST00000421062.2_Missense_Mutation_p.A381V|SLC22A6_ENST00000537349.1_5'Flank|SLC22A6_ENST00000360421.4_Missense_Mutation_p.A381V|SLC22A6_ENST00000458333.2_Missense_Mutation_p.A381V	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	381					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	CACAAGCTTGGCAGGCAGGTC	0.582																																						ENST00000377871.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1141-1143)gCc>gTc		solute carrier family 22 (organic anion transporter), member 6							66.0	63.0	64.0					11																	62747316		2201	4298	6499	SO:0001583	missense	9356				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	g.chr11:62747316G>A	AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"""Solute carriers"""	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.1142C>T	11.37:g.62747316G>A	ENSP00000367102:p.Ala381Val					SLC22A6_ENST00000458333.2_Missense_Mutation_p.A381V|SLC22A6_ENST00000360421.4_Missense_Mutation_p.A381V|SLC22A6_ENST00000421062.2_Missense_Mutation_p.A381V	p.A381V	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN			7	1408	-			381					A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Missense_Mutation	SNP	ENST00000377871.3	37	c.1142C>T	CCDS31591.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.957975	0.92726	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871;ENST00000458333;ENST00000421062	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	4.41	4.41	0.53225	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.76709	0.4025	M	0.84585	2.705	0.53688	D	0.999978	D;D;D;D	0.67145	0.996;0.996;0.994;0.992	D;D;D;D	0.71414	0.939;0.955;0.973;0.955	T	0.79820	-0.1642	10	0.49607	T	0.09	.	14.5187	0.67835	0.0:0.0:1.0:0.0	.	381;381;381;381	Q4U2R8-4;Q4U2R8-3;Q4U2R8;Q4U2R8-2	.;.;S22A6_HUMAN;.	V	381;360;381;381;381	ENSP00000353597:A381V;ENSP00000367102:A381V;ENSP00000396401:A381V;ENSP00000404441:A381V	ENSP00000353597:A381V	A	-	2	0	SLC22A6	62503892	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.422000	0.97458	2.255000	0.74692	0.561000	0.74099	GCC		0.582	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1	NM_004790		37	32	0	0	0	1	0	37	32				
KRI1	65095	broad.mit.edu	37	19	10671086	10671086	+	Silent	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:10671086A>G	ENST00000312962.6	-	9	739	c.720T>C	c.(718-720)gaT>gaC	p.D240D	KRI1_ENST00000361821.5_Silent_p.D236D|KRI1_ENST00000537964.1_5'Flank	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	234	Glu-rich.					nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GCTCCCCTTCATCCAACTCAG	0.552																																						ENST00000312962.6																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(718-720)gaT>gaC		KRI1 homolog (S. cerevisiae)							113.0	92.0	99.0					19																	10671086		2203	4300	6503	SO:0001819	synonymous_variant	65095							g.chr19:10671086A>G		CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.720T>C	19.37:g.10671086A>G						KRI1_ENST00000361821.5_Silent_p.D236D	p.D240D	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		9	739	-			240			Glu-rich.		Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Silent	SNP	ENST00000312962.6	37	c.720T>C	CCDS12242.1	.	.	.	.	.	.	.	.	.	.	A	8.473	0.857936	0.17178	.	.	ENSG00000129347	ENST00000543682	.	.	.	5.36	-10.7	0.00240	.	.	.	.	.	T	0.56077	0.1961	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68542	-0.5381	4	.	.	.	-28.6581	12.5717	0.56341	0.2938:0.1568:0.5495:0.0	.	.	.	.	T	178	.	.	M	-	2	0	KRI1	10532086	0.000000	0.05858	0.099000	0.21106	0.845000	0.48019	-2.975000	0.00666	-2.849000	0.00332	-0.461000	0.05368	ATG		0.552	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1	NM_023008		10	140	0	0	0	1	0	10	140				
CEP128	145508	broad.mit.edu	37	14	81297536	81297536	+	Missense_Mutation	SNP	C	C	T	rs142727794		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:81297536C>T	ENST00000555265.1	-	13	1535	c.1160G>A	c.(1159-1161)tGc>tAc	p.C387Y	CEP128_ENST00000216517.6_Missense_Mutation_p.C387Y|CEP128_ENST00000281129.3_Missense_Mutation_p.C387Y			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	387						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TCTCTCCATGCACCGTTTCAC	0.408																																						ENST00000555265.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(1159-1161)tGc>tAc		centrosomal protein 128kDa		C	TYR/CYS	1,4405	2.1+/-5.4	0,1,2202	210.0	188.0	196.0		1160	4.7	1.0	14	dbSNP_134	196	0,8600		0,0,4300	no	missense	CEP128	NM_152446.3	194	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	387/1095	81297536	1,13005	2203	4300	6503	SO:0001583	missense	145508					centriole|spindle pole		g.chr14:81297536C>T	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.1160G>A	14.37:g.81297536C>T	ENSP00000451162:p.Cys387Tyr					CEP128_ENST00000216517.6_Missense_Mutation_p.C387Y|CEP128_ENST00000281129.3_Missense_Mutation_p.C387Y	p.C387Y			Q6ZU80	CE128_HUMAN			13	1535	-			387					B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	c.1160G>A	CCDS32130.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.51|15.51	2.854305|2.854305	0.51270|0.51270	2.27E-4|2.27E-4	0.0|0.0	ENSG00000100629|ENSG00000100629	ENST00000554827|ENST00000281129;ENST00000555265;ENST00000393619;ENST00000216517	.|T;T;T	.|0.45276	.|1.47;1.47;0.9	5.61|5.61	4.71|4.71	0.59529|0.59529	.|.	.|0.323037	.|0.30879	.|N	.|0.008687	T|T	0.58680|0.58680	0.2139|0.2139	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.65815	.|0.995;0.978;0.994	.|P;P;P	.|0.62560	.|0.885;0.74;0.904	T|T	0.61797|0.61797	-0.6989|-0.6989	5|10	.|0.54805	.|T	.|0.06	.|.	14.8378|14.8378	0.70197|0.70197	0.0:0.8562:0.1438:0.0|0.0:0.8562:0.1438:0.0	.|.	.|387;268;387	.|Q6ZU80-3;Q8N3Z7;Q6ZU80	.|.;.;CE128_HUMAN	T|Y	266|387	.|ENSP00000281129:C387Y;ENSP00000451162:C387Y;ENSP00000216517:C387Y	.|ENSP00000216517:C387Y	A|C	-|-	1|2	0|0	CEP128|CEP128	80367289|80367289	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.739000|0.739000	0.42172|0.42172	2.586000|2.586000	0.46119|0.46119	1.495000|1.495000	0.48549|0.48549	-0.293000|-0.293000	0.09583|0.09583	GCA|TGC		0.408	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		6	182	0	0	0	1	0	6	182				
RBM15	64783	broad.mit.edu	37	1	110883949	110883949	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:110883949A>T	ENST00000369784.3	+	1	2822	c.1922A>T	c.(1921-1923)aAg>aTg	p.K641M	RBM15_ENST00000487146.2_Missense_Mutation_p.K641M|RBM15_ENST00000602849.1_Missense_Mutation_p.K641M|RP5-1074L1.1_ENST00000449169.1_RNA	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	641	Arg-rich.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAGCCTAGGAAGCGAAGGCTG	0.597			T	MKL1	acute megakaryocytic leukemia																																	ENST00000369784.3				Dom	yes		1	1p13	64783	T	RNA binding motif protein 15			L	MKL1		acute megakaryocytic leukemia		0				ovary(3)	3						c.(1921-1923)aAg>aTg		RNA binding motif protein 15							51.0	46.0	48.0					1																	110883949		2203	4300	6503	SO:0001583	missense	64783				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:110883949A>T	AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.1922A>T	1.37:g.110883949A>T	ENSP00000358799:p.Lys641Met					RBM15_ENST00000487146.2_Missense_Mutation_p.K641M|RBM15_ENST00000602849.1_Missense_Mutation_p.K641M	p.K641M	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	2822	+		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)	641			Arg-rich.		A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP	ENST00000369784.3	37	c.1922A>T	CCDS822.1	.	.	.	.	.	.	.	.	.	.	A	16.67	3.188514	0.57909	.	.	ENSG00000162775	ENST00000369784	T	0.22134	1.97	4.77	4.77	0.60923	.	0.000000	0.46442	D	0.000282	T	0.33323	0.0859	M	0.64404	1.975	0.52501	D	0.999956	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.94	T	0.14671	-1.0464	10	0.87932	D	0	-9.9257	14.4287	0.67233	1.0:0.0:0.0:0.0	.	641;641	Q96T37-3;Q96T37	.;RBM15_HUMAN	M	641	ENSP00000358799:K641M	ENSP00000358799:K641M	K	+	2	0	RBM15	110685472	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.511000	0.67024	2.006000	0.58801	0.533000	0.62120	AAG		0.597	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		10	41	0	0	0	1	0	10	41				
TSPAN8	7103	broad.mit.edu	37	12	71523156	71523156	+	Missense_Mutation	SNP	A	A	T	rs139952436		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:71523156A>T	ENST00000393330.2	-	11	1167	c.615T>A	c.(613-615)aaT>aaA	p.N205K	TSPAN8_ENST00000546561.1_Missense_Mutation_p.N205K|TSPAN8_ENST00000247829.3_Missense_Mutation_p.N205K|TSPAN8_ENST00000552128.1_Missense_Mutation_p.N122K			P19075	TSN8_HUMAN	tetraspanin 8	205					negative regulation of blood coagulation (GO:0030195)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			CTATAATCAAATTTTTTGCCA	0.269													A|||	1	0.000199681	0.0	0.0	5008	,	,		15182	0.0		0.001	False		,,,				2504	0.0					ENST00000393330.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19						c.(613-615)aaT>aaA		tetraspanin 8							46.0	47.0	47.0					12																	71523156		2195	4293	6488	SO:0001583	missense	7103				protein glycosylation	integral to membrane|lysosome	signal transducer activity	g.chr12:71523156A>T	M35252	CCDS8999.1	12q14.1-q21.1	2013-02-14	2005-03-21	2005-03-21		ENSG00000127324		"""Tetraspanins"""	11855	protein-coding gene	gene with protein product		600769	"""transmembrane 4 superfamily member 3"""	TM4SF3		2395876	Standard	NM_004616		Approved	CO-029	uc001swj.1	P19075		ENST00000393330.2:c.615T>A	12.37:g.71523156A>T	ENSP00000377003:p.Asn205Lys					TSPAN8_ENST00000552128.1_Missense_Mutation_p.N122K|TSPAN8_ENST00000546561.1_Missense_Mutation_p.N205K|TSPAN8_ENST00000247829.3_Missense_Mutation_p.N205K	p.N205K			P19075	TSN8_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)		11	1167	-			205					B2R7T7|Q9BS78	Missense_Mutation	SNP	ENST00000393330.2	37	c.615T>A	CCDS8999.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	11.29	1.595995	0.28445	.	.	ENSG00000127324	ENST00000393330;ENST00000247829;ENST00000546561;ENST00000552128	D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12	5.77	-0.895	0.10560	Tetraspanin, EC2 domain (1);	0.802559	0.11992	N	0.509703	D	0.82370	0.5022	L	0.50993	1.605	0.09310	N	1	B	0.23650	0.089	B	0.32090	0.14	T	0.69053	-0.5247	10	0.29301	T	0.29	.	9.149	0.36951	0.5371:0.0:0.4629:0.0	.	205	P19075	TSN8_HUMAN	K	205;205;205;122	ENSP00000377003:N205K;ENSP00000247829:N205K;ENSP00000447160:N205K;ENSP00000449820:N122K	ENSP00000247829:N205K	N	-	3	2	TSPAN8	69809423	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.141000	0.16076	-0.083000	0.12618	-0.256000	0.11100	AAT		0.269	TSPAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404737.1	NM_004616		9	47	0	0	0	1	0	9	47				
GRIN2D	2906	broad.mit.edu	37	19	48922549	48922549	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:48922549C>T	ENST00000263269.3	+	8	1882	c.1794C>T	c.(1792-1794)gcC>gcT	p.A598A		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	598					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTGTGGTCGCCGTCACTGTTT	0.602																																						ENST00000263269.3																			0				autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37						c.(1792-1794)gcC>gcT		glutamate receptor, ionotropic, N-methyl D-aspartate 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						149.0	99.0	116.0					19																	48922549		2203	4300	6503	SO:0001819	synonymous_variant	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48922549C>T	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.1794C>T	19.37:g.48922549C>T							p.A598A	NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	8	1882	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	598						Silent	SNP	ENST00000263269.3	37	c.1794C>T	CCDS12719.1																																																																																				0.602	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			4	60	0	0	0	1	0	4	60				
SLC22A25	387601	broad.mit.edu	37	11	62996938	62996938	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:62996938C>A	ENST00000306494.6	-	1	186	c.187G>T	c.(187-189)Gac>Tac	p.D63Y	SLC22A10_ENST00000535888.1_Intron|SLC22A25_ENST00000403374.2_5'Flank|SLC22A10_ENST00000525620.1_Intron	NM_199352.3	NP_955384.3			solute carrier family 22, member 25											NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						GTCCCAGGGTCATTGTCAGGG	0.502																																						ENST00000306494.6																			0				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						c.(187-189)Gac>Tac		solute carrier family 22, member 25							154.0	142.0	146.0					11																	62996938		2201	4298	6499	SO:0001583	missense	387601				transmembrane transport	integral to membrane		g.chr11:62996938C>A	AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"""Solute carriers"""	32935	protein-coding gene	gene with protein product		610792	"""MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"""			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.187G>T	11.37:g.62996938C>A	ENSP00000307443:p.Asp63Tyr					SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	p.D63Y	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN			1	186	-			63						Missense_Mutation	SNP	ENST00000306494.6	37	c.187G>T	CCDS31592.1	.	.	.	.	.	.	.	.	.	.	C	6.641	0.486759	0.12641	.	.	ENSG00000196600	ENST00000306494;ENST00000451441	T	0.38077	1.16	3.81	1.86	0.25419	.	2.173950	0.02431	N	0.083539	T	0.53286	0.1787	M	0.80982	2.52	0.09310	N	1	P;P	0.48640	0.864;0.913	P;P	0.50231	0.556;0.635	T	0.29518	-1.0009	10	0.59425	D	0.04	.	7.7062	0.28650	0.0:0.779:0.0:0.221	.	61;63	A4IF29;Q6T423	.;S22AP_HUMAN	Y	63	ENSP00000307443:D63Y	ENSP00000307443:D63Y	D	-	1	0	SLC22A25	62753514	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	-0.016000	0.12613	0.715000	0.32103	-0.576000	0.04144	GAC		0.502	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383519.3	NM_199352		35	73	1	0	5.8336e-16	1	6.98562e-16	35	73				
PCDHB3	56132	broad.mit.edu	37	5	140482612	140482612	+	Silent	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:140482612T>C	ENST00000231130.2	+	1	2379	c.2379T>C	c.(2377-2379)ttT>ttC	p.F793F	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	793					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAAGAGCTTTGAATTCAGTT	0.428																																						ENST00000231130.2																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(2377-2379)ttT>ttC									123.0	125.0	125.0					5																	140482612		2203	4300	6503	SO:0001819	synonymous_variant	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140482612T>C	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.2379T>C	5.37:g.140482612T>C							p.F793F	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2379	+			793					B2R8P2	Silent	SNP	ENST00000231130.2	37	c.2379T>C	CCDS4245.1																																																																																				0.428	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		44	55	0	0	0	1	0	44	55				
GOLGA2P9	440518	broad.mit.edu	37	19	22779092	22779092	+	RNA	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:22779092C>T	ENST00000600260.1	+	0	34					NR_033899.1																						CACAGCTGCGCGGTGGCAGAC	0.607																																						ENST00000600260.1																			0																																																			440518							g.chr19:22779092C>T																													19.37:g.22779092C>T								NR_033899.1						0	34	+									RNA	SNP	ENST00000600260.1	37																																																																																						0.607	CTC-457E21.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000464572.1			6	5	0	0	0	1	0	6	5				
CDH13	1012	broad.mit.edu	37	16	83711849	83711849	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:83711849C>T	ENST00000566620.1	+	10	1611	c.1321C>T	c.(1321-1323)Ctg>Ttg	p.L441L	CDH13_ENST00000428848.3_Silent_p.L402L|CDH13_ENST00000268613.10_Silent_p.L488L	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	441	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CCACACCCTGCTGATCAAAGT	0.542																																						ENST00000566620.1																			0				large_intestine(1)	1						c.(1321-1323)Ctg>Ttg		cadherin 13							64.0	68.0	66.0					16																	83711849		2015	4176	6191	SO:0001819	synonymous_variant	1012				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	g.chr16:83711849C>T	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.1321C>T	16.37:g.83711849C>T						CDH13_ENST00000268613.10_Silent_p.L488L|CDH13_ENST00000428848.3_Silent_p.L402L	p.L441L	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	10	1611	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	441			Cadherin 3.		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Silent	SNP	ENST00000566620.1	37	c.1321C>T	CCDS58486.1																																																																																				0.542	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		27	37	0	0	0	1	0	27	37				
ALPK2	115701	broad.mit.edu	37	18	56246910	56246910	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr18:56246910G>A	ENST00000361673.3	-	4	1311	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	366						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AATGCTCACCGAATTCCATCT	0.512											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(1096-1098)ttC>ttT		alpha-kinase 2							119.0	109.0	112.0					18																	56246910		2203	4300	6503	SO:0001819	synonymous_variant	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56246910G>A	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1098C>T	18.37:g.56246910G>A			OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014		p.F366F	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			4	1311	-			366					Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	ENST00000361673.3	37	c.1098C>T	CCDS11966.2																																																																																				0.512	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		52	35	0	0	0	1	0	52	35				
USP47	55031	broad.mit.edu	37	11	11964389	11964389	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:11964389A>G	ENST00000399455.2	+	21	3001	c.2881A>G	c.(2881-2883)Att>Gtt	p.I961V	USP47_ENST00000527733.1_Missense_Mutation_p.I941V|USP47_ENST00000339865.5_Missense_Mutation_p.I873V|USP47_ENST00000539466.1_5'UTR	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	961					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		GGACAGTGATATTCTTAGCTC	0.408																																						ENST00000339865.5																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(2617-2619)Att>Gtt		ubiquitin specific peptidase 47							165.0	150.0	155.0					11																	11964389		1953	4152	6105	SO:0001583	missense	55031				base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	g.chr11:11964389A>G	AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.2881A>G	11.37:g.11964389A>G	ENSP00000382382:p.Ile961Val					USP47_ENST00000399455.2_Missense_Mutation_p.I961V|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000527733.1_Missense_Mutation_p.I941V	p.I873V	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN		Epithelial(150;0.000339)	19	3380	+			961					B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP	ENST00000399455.2	37	c.2617A>G		.	.	.	.	.	.	.	.	.	.	A	15.48	2.847030	0.51164	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000399455;ENST00000540365	T;T;T	0.04758	3.57;3.57;3.56	6.02	6.02	0.97574	.	0.044191	0.85682	D	0.000000	T	0.10423	0.0255	L	0.27053	0.805	0.80722	D	1	P;P;P	0.38863	0.518;0.518;0.65	P;P;P	0.54140	0.558;0.558;0.743	T	0.44390	-0.9331	10	0.27785	T	0.31	.	16.1925	0.82004	1.0:0.0:0.0:0.0	.	961;941;873	Q96K76;E9PM46;Q96K76-2	UBP47_HUMAN;.;.	V	873;941;961;158	ENSP00000339957:I873V;ENSP00000433146:I941V;ENSP00000382382:I961V	ENSP00000339957:I873V	I	+	1	0	USP47	11920965	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.962000	0.93254	2.306000	0.77630	0.482000	0.46254	ATT		0.408	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	NM_017944		9	137	0	0	0	1	0	9	137				
HCRT	3060	broad.mit.edu	37	17	40336494	40336494	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:40336494G>A	ENST00000293330.1	-	2	160	c.74C>T	c.(73-75)gCg>gTg	p.A25V		NM_001524.1	NP_001515.1	O43612	OREX_HUMAN	hypocretin (orexin) neuropeptide precursor	25					eating behavior (GO:0042755)|negative regulation of DNA replication (GO:0008156)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of transmission of nerve impulse (GO:0051970)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of transmission of nerve impulse (GO:0051971)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)				breast(1)|central_nervous_system(1)	2		all_cancers(22;1.39e-06)|all_epithelial(22;9.98e-06)|Breast(137;0.000143)|Ovarian(249;0.0221)|Myeloproliferative disorder(1115;0.0255)|Colorectal(1115;0.069)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CGACAACAGCGCGGgcggcag	0.701																																						ENST00000293330.1																			0				breast(1)|central_nervous_system(1)	2						c.(73-75)gCg>gTg		hypocretin (orexin) neuropeptide precursor							5.0	6.0	6.0					17																	40336494		1828	3707	5535	SO:0001583	missense	3060				neuropeptide signaling pathway	cell junction|extracellular region|rough endoplasmic reticulum|synaptic vesicle		g.chr17:40336494G>A	AF041240	CCDS11421.1	17q21	2013-02-28				ENSG00000161610		"""Endogenous ligands"""	4847	protein-coding gene	gene with protein product	"""prepro-orexin"""	602358				9419374, 9491897	Standard	NM_001524		Approved	PPOX, OX	uc002hzc.1	O43612		ENST00000293330.1:c.74C>T	17.37:g.40336494G>A	ENSP00000293330:p.Ala25Val						p.A25V	NM_001524.1	NP_001515.1	O43612	OREX_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.124)	2	160	-		all_cancers(22;1.39e-06)|all_epithelial(22;9.98e-06)|Breast(137;0.000143)|Ovarian(249;0.0221)|Myeloproliferative disorder(1115;0.0255)|Colorectal(1115;0.069)	25						Missense_Mutation	SNP	ENST00000293330.1	37	c.74C>T	CCDS11421.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667326	0.67814	.	.	ENSG00000161610	ENST00000293330	T	0.80909	-1.43	4.38	4.38	0.52667	.	0.244071	0.35378	N	0.003258	T	0.70727	0.3257	L	0.47716	1.5	0.29614	N	0.846737	B	0.27559	0.181	B	0.21546	0.035	T	0.59440	-0.7454	10	0.06236	T	0.91	-10.2388	14.8047	0.69945	0.0:0.0:1.0:0.0	.	25	O43612	OREX_HUMAN	V	25	ENSP00000293330:A25V	ENSP00000293330:A25V	A	-	2	0	HCRT	37590020	0.168000	0.22989	1.000000	0.80357	0.943000	0.58893	2.544000	0.45761	2.432000	0.82394	0.561000	0.74099	GCG		0.701	HCRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449792.1	NM_001524		12	13	0	0	0	1	0	12	13				
CENPE	1062	broad.mit.edu	37	4	104054933	104054933	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:104054933C>T	ENST00000265148.3	-	41	6728	c.6639G>A	c.(6637-6639)caG>caA	p.Q2213Q	CENPE_ENST00000380026.3_Silent_p.Q2092Q	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2213	Kinetochore-binding domain.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GTTGAAGGTGCTGTATTTTAA	0.284																																						ENST00000265148.3																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(6637-6639)caG>caA		centromere protein E, 312kDa							132.0	122.0	126.0					4																	104054933		2202	4297	6499	SO:0001819	synonymous_variant	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104054933C>T	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.6639G>A	4.37:g.104054933C>T						CENPE_ENST00000380026.3_Silent_p.Q2092Q	p.Q2213Q	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	41	6728	-			2213			Kinetochore-binding domain.		A6NKY9|A8K2U7|Q4LE75	Silent	SNP	ENST00000265148.3	37	c.6639G>A	CCDS34042.1																																																																																				0.284	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				30	12	0	0	0	1	0	30	12				
YLPM1	56252	broad.mit.edu	37	14	75266069	75266069	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:75266069C>T	ENST00000325680.7	+	5	4193	c.4069C>T	c.(4069-4071)Cga>Tga	p.R1357*	YLPM1_ENST00000238571.3_Nonsense_Mutation_p.R1162*|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1162					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.R1357*(1)|p.R1162*(1)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGAAAGAAATCGAGAGCATGG	0.473																																						ENST00000325680.7																			2	Substitution - Nonsense(2)	p.R1357*(1)|p.R1162*(1)	large_intestine(2)	breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(4069-4071)Cga>Tga		YLP motif containing 1							170.0	160.0	163.0					14																	75266069		1882	4122	6004	SO:0001587	stop_gained	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75266069C>T	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.4069C>T	14.37:g.75266069C>T	ENSP00000324463:p.Arg1357*					YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Nonsense_Mutation_p.R1162*	p.R1357*	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	5	4193	+			1162					P49752|Q96I64|Q9P1V7	Nonsense_Mutation	SNP	ENST00000325680.7	37	c.4069C>T	CCDS45135.1	.	.	.	.	.	.	.	.	.	.	C	37	6.382028	0.97520	.	.	ENSG00000119596	ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.97	5.01	0.66863	.	0.000000	0.53938	D	0.000053	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5401	13.708	0.62651	0.2119:0.7881:0.0:0.0	.	.	.	.	X	1357;1162;1070	.	ENSP00000238571:R1162X	R	+	1	2	YLPM1	74335822	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.759000	0.47573	2.855000	0.98099	0.537000	0.68136	CGA		0.473	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404451.1	NM_019589		18	186	0	0	0	1	0	18	186				
ATP6V1H	51606	broad.mit.edu	37	8	54682246	54682246	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:54682246C>T	ENST00000359530.2	-	11	1370	c.1107G>A	c.(1105-1107)gtG>gtA	p.V369V	ATP6V1H_ENST00000520188.1_Silent_p.V329V|ATP6V1H_ENST00000396774.2_Silent_p.V369V|ATP6V1H_ENST00000523899.1_5'UTR|ATP6V1H_ENST00000355221.3_Silent_p.V351V	NM_015941.3	NP_057025.2	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	369					ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|endocytosis (GO:0006897)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|regulation of catalytic activity (GO:0050790)|regulation of defense response to virus by virus (GO:0050690)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V1 domain (GO:0000221)	enzyme regulator activity (GO:0030234)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			CAGATTTGTGCACAGGACTCC	0.313																																						ENST00000355221.3																			0				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18						c.(1051-1053)gtG>gtA		ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H							101.0	101.0	101.0					8																	54682246		2202	4299	6501	SO:0001819	synonymous_variant	51606				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr8:54682246C>T	AF132945	CCDS6153.1, CCDS6154.1	8q11.2	2011-05-24	2002-08-29		ENSG00000047249	ENSG00000047249		"""ATPases / V-type"""	18303	protein-coding gene	gene with protein product	"""vacuolar ATP synthase subunit H"""	608861	"""ATPase, H+ transporting, lysosomal 50/57kD, V1 subunit H"""			9620685, 10810093	Standard	NM_015941		Approved	CGI-11, SFD, VMA13, SFDalpha, SFDbeta	uc003xrm.4	Q9UI12	OTTHUMG00000164231	ENST00000359530.2:c.1107G>A	8.37:g.54682246C>T						ATP6V1H_ENST00000523899.1_5'UTR|ATP6V1H_ENST00000520188.1_Silent_p.V329V|ATP6V1H_ENST00000359530.2_Silent_p.V369V|ATP6V1H_ENST00000396774.2_Silent_p.V369V	p.V351V	NM_213619.2	NP_998784.1	Q9UI12	VATH_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)		10	1612	-		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	369					B3KMR0|Q6PK44|Q9H3E3|Q9Y300	Silent	SNP	ENST00000359530.2	37	c.1053G>A	CCDS6153.1																																																																																				0.313	ATP6V1H-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377865.1	NM_015941		5	100	0	0	0	1	0	5	100				
ARID1B	57492	broad.mit.edu	37	6	157528599	157528599	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:157528599G>T	ENST00000350026.5	+	19	6286	c.6285G>T	c.(6283-6285)caG>caT	p.Q2095H	ARID1B_ENST00000275248.4_Missense_Mutation_p.Q2090H|ARID1B_ENST00000367148.1_Missense_Mutation_p.Q2148H|ARID1B_ENST00000346085.5_Missense_Mutation_p.Q2108H	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2095					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TTAGTCGTCAGGAGAAATTCT	0.488																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(6322-6324)caG>caT		AT rich interactive domain 1B (SWI1-like)							185.0	195.0	191.0					6																	157528599		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157528599G>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.6285G>T	6.37:g.157528599G>T	ENSP00000055163:p.Gln2095His					ARID1B_ENST00000350026.5_Missense_Mutation_p.Q2095H|ARID1B_ENST00000275248.4_Missense_Mutation_p.Q2090H|ARID1B_ENST00000367148.1_Missense_Mutation_p.Q2148H	p.Q2108H	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	20	6325	+		Breast(66;0.000162)|Ovarian(120;0.0265)	2095					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.6324G>T	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	G	12.51	1.960351	0.34565	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	5.26	5.26	0.73747	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.34600	0.0903	L	0.36672	1.1	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.72982	0.979;0.964;0.964	T	0.11792	-1.0573	10	0.72032	D	0.01	.	12.5768	0.56367	0.0762:0.0:0.9238:0.0	.	2095;2108;2090	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	H	2108;2095;2148;2090;1617	ENSP00000344546:Q2108H;ENSP00000055163:Q2095H;ENSP00000356116:Q2148H;ENSP00000275248:Q2090H;ENSP00000412835:Q1617H	ENSP00000275248:Q2090H	Q	+	3	2	ARID1B	157570291	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.756000	0.74919	2.607000	0.88179	0.655000	0.94253	CAG		0.488	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		36	419	1	0	3.03874e-20	1	3.68528e-20	36	419				
ALDH6A1	4329	broad.mit.edu	37	14	74535660	74535660	+	Missense_Mutation	SNP	G	G	T	rs139579994	byFrequency	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:74535660G>T	ENST00000553458.1	-	7	853	c.755C>A	c.(754-756)cCg>cAg	p.P252Q	ALDH6A1_ENST00000556852.1_5'Flank|ALDH6A1_ENST00000555126.1_5'UTR|ALDH6A1_ENST00000350259.4_Missense_Mutation_p.P239Q|AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000553773.1_Intron	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	252					branched-chain amino acid catabolic process (GO:0009083)|brown fat cell differentiation (GO:0050873)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|thymine metabolic process (GO:0019859)|valine catabolic process (GO:0006574)|valine metabolic process (GO:0006573)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fatty-acyl-CoA binding (GO:0000062)|malonate-semialdehyde dehydrogenase (acetylating) activity (GO:0018478)|methylmalonate-semialdehyde dehydrogenase (acylating) activity (GO:0004491)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)		TTTGATGTCCGGATGATCGCA	0.418																																						ENST00000553458.1																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21						c.(754-756)cCg>cAg		aldehyde dehydrogenase 6 family, member A1	NADH(DB00157)						70.0	66.0	68.0					14																	74535660		2203	4300	6503	SO:0001583	missense	4329					mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity	g.chr14:74535660G>T	M93405	CCDS9826.1, CCDS61501.1	14q24.3	2014-02-03			ENSG00000119711	ENSG00000119711	1.2.1.27	"""Aldehyde dehydrogenases"""	7179	protein-coding gene	gene with protein product		603178		MMSDH		1527093	Standard	NM_005589		Approved		uc001xpo.3	Q02252	OTTHUMG00000171203	ENST00000553458.1:c.755C>A	14.37:g.74535660G>T	ENSP00000450436:p.Pro252Gln					ALDH6A1_ENST00000350259.4_Missense_Mutation_p.P239Q|ALDH6A1_ENST00000555126.1_5'UTR|CCDC176_ENST00000553773.1_Intron|AC005484.5_ENST00000492026.1_RNA	p.P252Q	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00354)	7	853	-			252					B2R609|B4DFS8|J3KNU8|Q9UKM8	Missense_Mutation	SNP	ENST00000553458.1	37	c.755C>A	CCDS9826.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107398	0.77096	.	.	ENSG00000119711	ENST00000553458;ENST00000350259	D;D	0.92699	-3.09;-3.09	5.98	4.15	0.48705	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.95931	0.8675	M	0.93197	3.39	0.80722	D	1	P;P	0.52316	0.952;0.886	P;P	0.55785	0.784;0.784	D	0.96482	0.9357	10	0.62326	D	0.03	.	13.1222	0.59334	0.1311:0.0:0.8689:0.0	.	239;252	B4DFS8;Q02252	.;MMSA_HUMAN	Q	252;239	ENSP00000450436:P252Q;ENSP00000342564:P239Q	ENSP00000342564:P252Q	P	-	2	0	ALDH6A1	73605413	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.861000	0.99562	1.545000	0.49373	-0.142000	0.14014	CCG		0.418	ALDH6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412309.1			4	70	1	0	0.00909568	1	0.0092416	4	70				
PDE4DIP	9659	broad.mit.edu	37	1	144915504	144915504	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:144915504G>C	ENST00000369354.3	-	14	2110	c.1921C>G	c.(1921-1923)Cat>Gat	p.H641D	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.H778D|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.H428D|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.H641D|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.H641D|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.H804D|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.H641D|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.H707D|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.H778D|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.H804D			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	641					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCATTTCATGTTCCAGCACT	0.488			T	PDGFRB	MPD																																	ENST00000529945.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(2410-2412)Cat>Gat		phosphodiesterase 4D interacting protein							325.0	294.0	305.0					1																	144915504		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144915504G>C	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.1921C>G	1.37:g.144915504G>C	ENSP00000358360:p.His641Asp					PDE4DIP_ENST00000479408.2_Missense_Mutation_p.H428D|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.H641D|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.H804D|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.H641D|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.H641D|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.H641D|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.H778D|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.H778D|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.H707D	p.H804D			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	10	2849	-			641					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.2410C>G	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.095229	0.56075	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.64438	4.51;4.59;4.59;4.62;4.61;3.57;3.57;2.42;2.44;-0.1	5.2	4.28	0.50868	.	.	.	.	.	T	0.60314	0.2259	M	0.68952	2.095	0.80722	D	1	B;P;B;P;D;P	0.63880	0.256;0.548;0.437;0.579;0.993;0.93	B;B;B;B;P;P	0.56751	0.143;0.264;0.329;0.332;0.805;0.569	T	0.61431	-0.7064	9	0.34782	T	0.22	.	10.7309	0.46096	0.0972:0.0:0.9028:0.0	.	804;428;641;804;707;641	E9PL24;E9PQG4;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;.;MYOME_HUMAN	D	707;641;641;804;778;778;641;641;804;804;428	ENSP00000327209:H707D;ENSP00000358360:H641D;ENSP00000358363:H641D;ENSP00000435654:H778D;ENSP00000358366:H778D;ENSP00000358357:H641D;ENSP00000358355:H641D;ENSP00000316434:H804D;ENSP00000433392:H804D;ENSP00000436791:H428D	ENSP00000327209:H707D	H	-	1	0	PDE4DIP	143626861	1.000000	0.71417	0.846000	0.33378	0.958000	0.62258	6.367000	0.73099	1.303000	0.44873	0.650000	0.86243	CAT		0.488	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		18	295	0	0	0	1	0	18	295				
ALG10	84920	broad.mit.edu	37	12	34179005	34179005	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:34179005G>A	ENST00000266483.2	+	3	896	c.577G>A	c.(577-579)Gct>Act	p.A193T	ALG10_ENST00000538927.1_Intron|RP11-847H18.2_ENST00000501954.2_RNA|AC046130.1_ENST00000401300.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	193					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				TATCATCTGGGCTGTCTTCTG	0.398																																						ENST00000266483.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(577-579)Gct>Act		ALG10, alpha-1,2-glucosyltransferase							156.0	159.0	158.0					12																	34179005		2203	4299	6502	SO:0001583	missense	84920				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:34179005G>A	AJ312278	CCDS41769.1	12p11.21	2013-03-04	2013-03-04		ENSG00000139133	ENSG00000139133	2.4.1.256		23162	protein-coding gene	gene with protein product	"""derepression of ITR1 expression 2 homolog (S. cerevisiae)"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""	603313	"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (yeast)"", ""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe)"""				Standard	NM_032834		Approved	FLJ14751, DIE2, ALG10A	uc001rlm.3	Q5BKT4	OTTHUMG00000169285	ENST00000266483.2:c.577G>A	12.37:g.34179005G>A	ENSP00000266483:p.Ala193Thr					ALG10_ENST00000538927.1_Intron|RP11-847H18.2_ENST00000501954.2_RNA	p.A193T	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN			3	896	+	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)	193					Q6NS98|Q96DU0|Q96SM6	Missense_Mutation	SNP	ENST00000266483.2	37	c.577G>A	CCDS41769.1	.	.	.	.	.	.	.	.	.	.	G	4.651	0.121098	0.08881	.	.	ENSG00000139133	ENST00000266483	T	0.55760	0.5	3.13	2.21	0.28008	.	0.442255	0.27122	N	0.020833	T	0.28466	0.0704	N	0.12182	0.205	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.03829	-1.1000	10	0.32370	T	0.25	.	5.5247	0.16951	0.2766:0.0:0.7234:0.0	.	193	Q5BKT4	AG10A_HUMAN	T	193	ENSP00000266483:A193T	ENSP00000266483:A193T	A	+	1	0	ALG10	34070272	1.000000	0.71417	0.953000	0.39169	0.154000	0.21943	1.938000	0.40203	0.441000	0.26529	0.184000	0.17185	GCT		0.398	ALG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403309.1	NM_032834		5	304	0	0	0	1	0	5	304				
MESDC1	59274	broad.mit.edu	37	15	81295526	81295526	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:81295526G>A	ENST00000267984.2	+	1	2232	c.914G>A	c.(913-915)tGc>tAc	p.C305Y		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	305										endometrium(1)|lung(2)	3						CTGACCCAGTGCCTCAGGGAT	0.711																																						ENST00000267984.2																			0				endometrium(1)|lung(2)	3						c.(913-915)tGc>tAc		mesoderm development candidate 1							11.0	12.0	12.0					15																	81295526		2200	4286	6486	SO:0001583	missense	59274							g.chr15:81295526G>A	AY007810	CCDS10316.1	15q13	2008-07-18			ENSG00000140406	ENSG00000140406			13519	protein-coding gene	gene with protein product		615466				11247670	Standard	NM_022566		Approved	MGC99595	uc002bfz.3	Q9H1K6	OTTHUMG00000144185	ENST00000267984.2:c.914G>A	15.37:g.81295526G>A	ENSP00000267984:p.Cys305Tyr						p.C305Y	NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN			1	2232	+			305						Missense_Mutation	SNP	ENST00000267984.2	37	c.914G>A	CCDS10316.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492781	0.64074	.	.	ENSG00000140406	ENST00000267984	T	0.07444	3.19	5.07	5.07	0.68467	.	0.063542	0.64402	U	0.000004	T	0.07954	0.0199	N	0.24115	0.695	0.58432	D	0.999999	B	0.32160	0.358	B	0.29524	0.103	T	0.27297	-1.0078	10	0.54805	T	0.06	-14.6975	18.4547	0.90715	0.0:0.0:1.0:0.0	.	305	Q9H1K6	MESD1_HUMAN	Y	305	ENSP00000267984:C305Y	ENSP00000267984:C305Y	C	+	2	0	MESDC1	79082581	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.430000	0.80321	2.370000	0.80446	0.549000	0.68633	TGC		0.711	MESDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291390.1	NM_022566		6	9	0	0	0	1	0	6	9				
NFATC2	4773	broad.mit.edu	37	20	50139893	50139893	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:50139893G>T	ENST00000396009.3	-	2	1106	c.887C>A	c.(886-888)cCt>cAt	p.P296H	NFATC2_ENST00000609507.1_Missense_Mutation_p.P77H|NFATC2_ENST00000610033.1_Missense_Mutation_p.P77H|NFATC2_ENST00000414705.1_Missense_Mutation_p.P276H|NFATC2_ENST00000371564.3_Missense_Mutation_p.P296H|NFATC2_ENST00000609943.1_Missense_Mutation_p.P276H	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	296					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GCCAGCCACAGGGGGGTACCC	0.706																																						ENST00000371564.3																		EWSR1/NFATC2(9)	0				breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(886-888)cCt>cAt		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2							8.0	11.0	10.0					20																	50139893		2100	4159	6259	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50139893G>T	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.887C>A	20.37:g.50139893G>T	ENSP00000379330:p.Pro296His					NFATC2_ENST00000414705.1_Missense_Mutation_p.P276H|NFATC2_ENST00000396009.3_Missense_Mutation_p.P296H	p.P296H	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN			2	1106	-	Hepatocellular(150;0.248)		296					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.887C>A	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	G	8.717	0.913432	0.17907	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000371567;ENST00000414705	T;T;T	0.14022	2.54;2.54;2.54	5.24	3.12	0.35913	.	0.598340	0.17288	N	0.179760	T	0.11623	0.0283	N	0.12961	0.28	0.31717	N	0.638736	B;D;P;B	0.55800	0.031;0.973;0.943;0.014	B;P;P;B	0.52710	0.006;0.707;0.472;0.003	T	0.07908	-1.0748	10	0.36615	T	0.2	-10.6132	6.2365	0.20766	0.0998:0.0:0.4924:0.4078	.	276;276;296;296	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	H	296;296;77;276	ENSP00000360619:P296H;ENSP00000379330:P296H;ENSP00000396471:P276H	ENSP00000360619:P296H	P	-	2	0	NFATC2	49573300	1.000000	0.71417	0.644000	0.29465	0.418000	0.31294	2.677000	0.46892	1.189000	0.43028	0.305000	0.20034	CCT		0.706	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		13	39	1	0	7.93312e-07	1	8.62954e-07	13	39				
ZNF384	171017	broad.mit.edu	37	12	6781536	6781536	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:6781536G>A	ENST00000396801.3	-	8	1281	c.1074C>T	c.(1072-1074)tcC>tcT	p.S358S	ZNF384_ENST00000396799.2_Intron|ZNF384_ENST00000355772.4_Intron|ZNF384_ENST00000319770.3_Intron|ZNF384_ENST00000396795.1_Intron|ZNF384_ENST00000361959.3_Silent_p.S358S|RP4-761J14.8_ENST00000586338.1_RNA	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	358					nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						GCTGGAGGTGGGAGAGCTGGC	0.667			T	"""EWSR1, TAF15 """	ALL																																	ENST00000396801.3				Dom	yes		12	12p13	171017	T	zinc finger protein 384 (CIZ/NMP4)			L	"""EWSR1, TAF15 """		ALL	EWSR1/ZNF384(4)	0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						c.(1072-1074)tcC>tcT		zinc finger protein 384							66.0	62.0	63.0					12																	6781536		1568	3582	5150	SO:0001819	synonymous_variant	171017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:6781536G>A	U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"""Zinc fingers, C2H2-type"""	11955	protein-coding gene	gene with protein product		609951	"""trinucleotide repeat containing 1"""	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.1074C>T	12.37:g.6781536G>A						ZNF384_ENST00000396795.1_Intron|ZNF384_ENST00000361959.3_Silent_p.S358S|ZNF384_ENST00000396799.2_Intron|ZNF384_ENST00000319770.3_Intron|ZNF384_ENST00000355772.4_Intron	p.S358S	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN			8	1281	-			358					O15407|Q7Z722|Q8N938	Silent	SNP	ENST00000396801.3	37	c.1074C>T	CCDS44817.1																																																																																				0.667	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400712.1			22	28	0	0	0	1	0	22	28				
NCOA6	23054	broad.mit.edu	37	20	33345817	33345817	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:33345817G>T	ENST00000374796.2	-	8	3304	c.734C>A	c.(733-735)cCt>cAt	p.P245H	NCOA6_ENST00000359003.2_Missense_Mutation_p.P245H			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	245	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CACAGAGACAGGCTGCATTGG	0.507																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(733-735)cCt>cAt		nuclear receptor coactivator 6							63.0	65.0	64.0					20																	33345817		2203	4300	6503	SO:0001583	missense	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345817G>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.734C>A	20.37:g.33345817G>T	ENSP00000363929:p.Pro245His					NCOA6_ENST00000359003.2_Missense_Mutation_p.P245H	p.P245H			Q14686	NCOA6_HUMAN			8	3304	-			245			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.734C>A	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858367	0.51376	.	.	ENSG00000198646	ENST00000374796;ENST00000359003;ENST00000397675	T;T	0.23754	1.89;1.89	5.11	4.15	0.48705	.	0.488825	0.18933	N	0.127156	T	0.14313	0.0346	N	0.14661	0.345	0.31008	N	0.719572	P;B	0.40032	0.699;0.07	B;B	0.38020	0.263;0.085	T	0.04737	-1.0930	10	0.62326	D	0.03	-0.2502	7.7527	0.28907	0.0765:0.0:0.6518:0.2716	.	245;245	F6M2K2;Q14686	.;NCOA6_HUMAN	H	245;245;202	ENSP00000363929:P245H;ENSP00000351894:P245H	ENSP00000351894:P245H	P	-	2	0	NCOA6	32809478	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.439000	0.59968	2.382000	0.81193	0.467000	0.42956	CCT		0.507	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		5	154	1	0	0.00116845	1	0.00121758	5	154				
ZNF821	55565	broad.mit.edu	37	16	71894095	71894095	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:71894095C>T	ENST00000565601.1	-	7	1472	c.1065G>A	c.(1063-1065)agG>agA	p.R355R	ZNF821_ENST00000564134.1_3'UTR|ZNF821_ENST00000446827.2_Silent_p.R313R|ZNF821_ENST00000313565.6_Silent_p.R313R|ZNF821_ENST00000425432.1_Silent_p.R355R|ATXN1L_ENST00000569119.1_Intron	NM_001201553.1	NP_001188482.1	O75541	ZN821_HUMAN	zinc finger protein 821	355					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						TTTTCTCCAGCCTCCTCTTGA	0.587																																						ENST00000425432.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						c.(1063-1065)agG>agA		zinc finger protein 821							76.0	68.0	71.0					16																	71894095		2198	4300	6498	SO:0001819	synonymous_variant	55565				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:71894095C>T	AF070588	CCDS32481.1, CCDS56006.1, CCDS73911.1	16q22.3	2008-05-02				ENSG00000102984		"""Zinc fingers, C2H2-type"""	28043	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_017530		Approved		uc021tlb.1	O75541		ENST00000565601.1:c.1065G>A	16.37:g.71894095C>T						RP11-498D10.4_ENST00000568581.1_Intron|ZNF821_ENST00000446827.2_Silent_p.R313R|ZNF821_ENST00000313565.6_Silent_p.R313R|ZNF821_ENST00000565601.1_Silent_p.R355R|RP11-498D10.4_ENST00000569119.1_Intron|ZNF821_ENST00000564134.1_3'UTR	p.R355R	NM_001201552.1	NP_001188481.1	O75541	ZN821_HUMAN			8	1444	-			355					A6NK48|B4DKK4|D3DWS3	Silent	SNP	ENST00000565601.1	37	c.1065G>A	CCDS56006.1																																																																																				0.587	ZNF821-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434180.1	NM_017530		25	78	0	0	0	1	0	25	78				
DCAF4	26094	broad.mit.edu	37	14	73408516	73408516	+	Missense_Mutation	SNP	G	G	A	rs201937947		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:73408516G>A	ENST00000358377.2	+	5	635	c.415G>A	c.(415-417)Gtc>Atc	p.V139I	DCAF4_ENST00000394234.2_Missense_Mutation_p.V39I|DCAF4_ENST00000509153.1_Intron|DCAF4_ENST00000555042.1_Missense_Mutation_p.V139I|DCAF4_ENST00000353777.3_Intron|DCAF4_ENST00000553457.1_Missense_Mutation_p.V39I	NM_001163509.1|NM_015604.3	NP_001156981.1|NP_056419.2	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	139					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						TTTTCTCAACGTCACCAATTA	0.358																																						ENST00000553457.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						c.(115-117)Gtc>Atc		DDB1 and CUL4 associated factor 4		G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,	1,4405	2.1+/-5.4	0,1,2202	152.0	157.0	155.0		415,349,415,115,	-1.6	0.0	14		155	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,intron	DCAF4	NM_001163508.1,NM_001163509.1,NM_015604.3,NM_181340.2,NM_181341.2	29,29,29,29,	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign,benign,benign,benign,	139/490,117/475,139/496,39/396,	73408516	3,13003	2203	4300	6503	SO:0001583	missense	26094					CUL4 RING ubiquitin ligase complex		g.chr14:73408516G>A	BC018979	CCDS9809.1, CCDS9810.1, CCDS41968.1, CCDS41968.2, CCDS55926.1	14q24.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000119599		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20229	protein-coding gene	gene with protein product			"""WD repeat domain 21"", ""WD repeat domain 21A"""	WDR21, WDR21A			Standard	NM_015604		Approved	DKFZp434K114	uc010ttr.2	Q8WV16		ENST00000358377.2:c.415G>A	14.37:g.73408516G>A	ENSP00000351147:p.Val139Ile					DCAF4_ENST00000555042.1_Missense_Mutation_p.V139I|DCAF4_ENST00000509153.1_Intron|DCAF4_ENST00000394234.2_Missense_Mutation_p.V39I|DCAF4_ENST00000358377.2_Missense_Mutation_p.V139I|DCAF4_ENST00000353777.3_Intron	p.V39I			Q8WV16	DCAF4_HUMAN			4	405	+			139					B4DUT6|G3V522|Q86U31|Q8IV10|Q96K22|Q9Y4P5	Missense_Mutation	SNP	ENST00000358377.2	37	c.115G>A	CCDS9809.1	.	.	.	.	.	.	.	.	.	.	G	1.280	-0.610518	0.03690	2.27E-4	2.33E-4	ENSG00000119599	ENST00000358377;ENST00000394234;ENST00000555042;ENST00000553457	T;T;T;T	0.61274	0.52;0.12;0.12;1.25	4.61	-1.58	0.08479	.	1.643000	0.03352	N	0.196294	T	0.44871	0.1314	L	0.47716	1.5	0.09310	N	1	B;B;B;B	0.14438	0.006;0.01;0.005;0.003	B;B;B;B	0.09377	0.003;0.004;0.004;0.002	T	0.08066	-1.0740	10	0.11485	T	0.65	.	4.546	0.12081	0.2102:0.0:0.2344:0.5554	.	117;139;139;139	B4DN30;Q8WV16-2;G3V522;Q8WV16	.;.;.;DCAF4_HUMAN	I	139;39;139;39	ENSP00000351147:V139I;ENSP00000377781:V39I;ENSP00000452131:V139I;ENSP00000451186:V39I	ENSP00000351147:V139I	V	+	1	0	DCAF4	72478269	0.000000	0.05858	0.001000	0.08648	0.165000	0.22458	-0.185000	0.09684	-0.139000	0.11414	0.313000	0.20887	GTC		0.358	DCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361058.1	NM_015604		33	184	0	0	0	1	0	33	184				
SPTLC3	55304	broad.mit.edu	37	20	13071733	13071733	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:13071733A>G	ENST00000399002.2	+	5	884	c.610A>G	c.(610-612)Acc>Gcc	p.T204A	SPTLC3_ENST00000378194.4_Missense_Mutation_p.T204A	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	204					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						ATGTGCAGGCACCTTGGATAA	0.428																																						ENST00000399002.2																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						c.(610-612)Acc>Gcc		serine palmitoyltransferase, long chain base subunit 3	Pyridoxal Phosphate(DB00114)						169.0	168.0	168.0					20																	13071733		1901	4126	6027	SO:0001583	missense	55304				sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr20:13071733A>G	AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"""chromosome 20 open reading frame 38"", ""serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"""	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.610A>G	20.37:g.13071733A>G	ENSP00000381968:p.Thr204Ala					SPTLC3_ENST00000378194.4_Missense_Mutation_p.T204A	p.T204A	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN			5	884	+			204					A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Missense_Mutation	SNP	ENST00000399002.2	37	c.610A>G	CCDS13115.2	.	.	.	.	.	.	.	.	.	.	A	13.61	2.289814	0.40494	.	.	ENSG00000172296	ENST00000399002;ENST00000378194	D;D	0.90732	-2.72;-2.72	5.44	4.33	0.51752	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.387013	0.28365	N	0.015603	D	0.93426	0.7903	M	0.92169	3.28	0.28345	N	0.921152	B	0.30361	0.277	B	0.39339	0.297	D	0.89432	0.3717	10	0.66056	D	0.02	-5.3951	11.085	0.48082	0.8613:0.0:0.0:0.1387	.	204	Q9NUV7	SPTC3_HUMAN	A	204	ENSP00000381968:T204A;ENSP00000367436:T204A	ENSP00000367436:T204A	T	+	1	0	SPTLC3	13019733	1.000000	0.71417	0.988000	0.46212	0.277000	0.26821	5.655000	0.67981	0.866000	0.35629	0.524000	0.50904	ACC		0.428	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1	NM_018327		42	176	0	0	0	1	0	42	176				
PLSCR2	57047	broad.mit.edu	37	3	146177679	146177679	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:146177679G>A	ENST00000497985.1	-	4	671	c.232C>T	c.(232-234)Cca>Tca	p.P78S	PLSCR2_ENST00000336685.2_Missense_Mutation_p.P5S	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	78	Poly-Pro.				phospholipid scrambling (GO:0017121)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid scramblase activity (GO:0017128)			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						AATGGTGGTGGTGGTGCTGGC	0.443																																						ENST00000497985.1																			0				endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						c.(232-234)Cca>Tca		phospholipid scramblase 2							147.0	137.0	140.0					3																	146177679		2203	4300	6503	SO:0001583	missense	57047				phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity	g.chr3:146177679G>A		CCDS56284.1, CCDS3134.1, CCDS75029.1	3q24	2008-07-18			ENSG00000163746	ENSG00000163746			16494	protein-coding gene	gene with protein product		607610				10930526	Standard	NM_001199978		Approved		uc003evw.2	Q9NRY7	OTTHUMG00000159429	ENST00000497985.1:c.232C>T	3.37:g.146177679G>A	ENSP00000420132:p.Pro78Ser					PLSCR2_ENST00000336685.2_Missense_Mutation_p.P5S	p.P78S	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN			4	671	-			5					B4DXC3|J3KR76|Q0VAQ1|Q6NSW9|Q7Z4L7	Missense_Mutation	SNP	ENST00000497985.1	37	c.232C>T	CCDS56284.1	.	.	.	.	.	.	.	.	.	.	G	1.193	-0.634707	0.03584	.	.	ENSG00000163746	ENST00000336685;ENST00000535500;ENST00000497985;ENST00000489015	T;T;T	0.20881	2.04;2.04;2.04	3.59	-0.542	0.11854	.	.	.	.	.	T	0.21387	0.0515	M	0.87682	2.9	0.09310	N	1	P;B	0.35363	0.497;0.009	B;B	0.36030	0.216;0.005	T	0.33574	-0.9863	9	0.09338	T	0.73	.	2.044	0.03557	0.1693:0.2894:0.3927:0.1487	.	98;5	Q7Z4L7;Q9NRY7	.;PLS2_HUMAN	S	5;97;78;5	ENSP00000338707:P5S;ENSP00000420132:P78S;ENSP00000418444:P5S	ENSP00000338707:P5S	P	-	1	0	PLSCR2	147660369	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	-0.136000	0.10405	-0.263000	0.09378	0.563000	0.77884	CCA		0.443	PLSCR2-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000355264.1	NM_020359		24	66	0	0	0	1	0	24	66				
TUBE1	51175	broad.mit.edu	37	6	112395985	112395985	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:112395985G>A	ENST00000368662.5	-	9	959	c.881C>T	c.(880-882)cCt>cTt	p.P294L	TUBE1_ENST00000604814.1_5'UTR	NM_016262.4	NP_057346.1	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	294					centrosome cycle (GO:0007098)|protein polymerization (GO:0051258)	microtubule (GO:0005874)|pericentriolar material (GO:0000242)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	Vinblastine(DB00570)	ATGAAGTTGAGGAAAAGGAAC	0.333																																						ENST00000368662.5																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(880-882)cCt>cTt		tubulin, epsilon 1							75.0	71.0	72.0					6																	112395985		2203	4299	6502	SO:0001583	missense	51175				centrosome cycle|microtubule-based movement|protein polymerization	microtubule|pericentriolar material	GTP binding|GTPase activity|structural constituent of cytoskeleton	g.chr6:112395985G>A	AF201334	CCDS5100.1	6q21	2005-11-03			ENSG00000074935	ENSG00000074935		"""Tubulins"""	20775	protein-coding gene	gene with protein product		607345				10620804	Standard	NM_016262		Approved	dJ142L7.2, FLJ22589, TUBE	uc003pvq.3	Q9UJT0	OTTHUMG00000015382	ENST00000368662.5:c.881C>T	6.37:g.112395985G>A	ENSP00000357651:p.Pro294Leu					TUBE1_ENST00000604814.1_5'UTR	p.P294L	NM_016262.4	NP_057346.1	Q9UJT0	TBE_HUMAN		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	9	959	-		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)	294					Q5H8W8|Q8NEG3	Missense_Mutation	SNP	ENST00000368662.5	37	c.881C>T	CCDS5100.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.742901	0.89573	.	.	ENSG00000074935	ENST00000368662	D	0.90504	-2.68	5.19	5.19	0.71726	Tubulin/FtsZ, 2-layer sandwich domain (2);Tubulin/FtsZ, GTPase domain (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95674	0.8593	M	0.88979	2.995	0.80722	D	1	D	0.56287	0.975	D	0.66497	0.944	D	0.96080	0.9053	10	0.87932	D	0	.	19.0818	0.93186	0.0:0.0:1.0:0.0	.	294	Q9UJT0	TBE_HUMAN	L	294	ENSP00000357651:P294L	ENSP00000357651:P294L	P	-	2	0	TUBE1	112502678	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.633000	0.98432	2.566000	0.86566	0.561000	0.74099	CCT		0.333	TUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041867.1	NM_016262		26	58	0	0	0	1	0	26	58				
TPM2	7169	broad.mit.edu	37	9	35689769	35689769	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:35689769C>G	ENST00000360958.2	-	1	150	c.46G>C	c.(46-48)Gag>Cag	p.E16Q	TPM2_ENST00000378300.5_Missense_Mutation_p.E16Q|TPM2_ENST00000329305.2_Missense_Mutation_p.E16Q|TPM2_ENST00000378292.3_Missense_Mutation_p.E16Q	NM_003289.3	NP_003280.2	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	16					muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)	cytosol (GO:0005829)|muscle thin filament tropomyosin (GO:0005862)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATGGCGTTCTCCTTGTCCAGC	0.672																																						ENST00000378292.3																			0				NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(46-48)Gag>Cag		tropomyosin 2 (beta)							224.0	211.0	216.0					9																	35689769		2203	4300	6503	SO:0001583	missense	7169				muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle	g.chr9:35689769C>G		CCDS6586.1, CCDS6587.1	9p13	2014-09-17	2003-12-02		ENSG00000198467	ENSG00000198467		"""Tropomyosins"""	12011	protein-coding gene	gene with protein product	"""nemaline myopathy type 4"""	190990	"""arthrogryposis multiplex congenital, distal, type 1"""	AMCD1		7606936	Standard	NM_003289		Approved	DA1, NEM4	uc003zxq.3	P07951	OTTHUMG00000019878	ENST00000360958.2:c.46G>C	9.37:g.35689769C>G	ENSP00000354219:p.Glu16Gln					TPM2_ENST00000378300.5_Missense_Mutation_p.E16Q|TPM2_ENST00000329305.2_Missense_Mutation_p.E16Q|TPM2_ENST00000360958.2_Missense_Mutation_p.E16Q	p.E16Q	NM_213674.1	NP_998839.1	P07951	TPM2_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		1	1248	-	all_epithelial(49;0.121)		16					A6NM85|P06468|Q13894|Q53FM4|Q5TCU4|Q5TCU7|Q9UH67	Missense_Mutation	SNP	ENST00000360958.2	37	c.46G>C	CCDS6587.1	.	.	.	.	.	.	.	.	.	.	C	32	5.190579	0.94923	.	.	ENSG00000198467	ENST00000378300;ENST00000378292;ENST00000329305;ENST00000360958	D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55	4.62	4.62	0.57501	.	.	.	.	.	D	0.93125	0.7811	M	0.93328	3.405	0.43913	D	0.996553	D;D;D;D;D	0.67145	0.996;0.976;0.995;0.996;0.985	D;P;D;D;D	0.81914	0.977;0.875;0.995;0.951;0.959	D	0.94894	0.8050	9	0.87932	D	0	-7.4533	16.185	0.81946	0.0:1.0:0.0:0.0	.	16;16;16;16;16	B4DGC2;A7XZE4;P07951;Q5TCU8;P07951-2	.;.;TPM2_HUMAN;.;.	Q	16	ENSP00000367550:E16Q;ENSP00000367542:E16Q;ENSP00000367541:E16Q;ENSP00000354219:E16Q	ENSP00000367541:E16Q	E	-	1	0	TPM2	35679769	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.567000	0.82357	2.384000	0.81235	0.561000	0.74099	GAG		0.672	TPM2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052376.1	NM_003289		137	52	0	0	0	1	0	137	52				
KCNB2	9312	broad.mit.edu	37	8	73479974	73479974	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:73479974C>T	ENST00000523207.1	+	2	593	c.5C>T	c.(4-6)gCa>gTa	p.A2V		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	2					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	TTCAAAATGGCAGAAAAGGCT	0.512																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(4-6)gCa>gTa		potassium voltage-gated channel, Shab-related subfamily, member 2							77.0	78.0	78.0					8																	73479974		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73479974C>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.5C>T	8.37:g.73479974C>T	ENSP00000430846:p.Ala2Val						p.A2V	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	593	+	Breast(64;0.137)		2					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.5C>T	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.417764	0.83449	.	.	ENSG00000182674	ENST00000523207	D	0.97620	-4.46	6.11	6.11	0.99139	.	0.000000	0.31709	U	0.007187	D	0.95072	0.8404	L	0.36672	1.1	0.43667	D	0.996096	P	0.45126	0.851	B	0.39339	0.297	D	0.95138	0.8261	10	0.87932	D	0	.	20.7342	0.99715	0.0:1.0:0.0:0.0	.	2	Q92953	KCNB2_HUMAN	V	2	ENSP00000430846:A2V	ENSP00000430846:A2V	A	+	2	0	KCNB2	73642528	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.975000	0.56859	2.906000	0.99361	0.655000	0.94253	GCA		0.512	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		27	120	0	0	0	1	0	27	120				
PRPF40B	25766	broad.mit.edu	37	12	50026874	50026874	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:50026874G>A	ENST00000380281.1	+	6	424	c.360G>A	c.(358-360)tgG>tgA	p.W120*	PRPF40B_ENST00000261897.1_Nonsense_Mutation_p.W114*|PRPF40B_ENST00000548825.2_Nonsense_Mutation_p.W142*			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	120	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						AGTCCGTGTGGGAGAAGCCCA	0.617																																						ENST00000261897.1																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(340-342)tgG>tgA		PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)							41.0	37.0	38.0					12																	50026874		2203	4299	6502	SO:0001587	stop_gained	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50026874G>A	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.360G>A	12.37:g.50026874G>A	ENSP00000369634:p.Trp120*					PRPF40B_ENST00000548825.2_Nonsense_Mutation_p.W142*|PRPF40B_ENST00000380281.1_Nonsense_Mutation_p.W120*	p.W114*			Q6NWY9	PR40B_HUMAN			6	893	+			120			WW 1.		O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Nonsense_Mutation	SNP	ENST00000380281.1	37	c.342G>A		.	.	.	.	.	.	.	.	.	.	G	27.3	4.817347	0.90790	.	.	ENSG00000110844	ENST00000548825;ENST00000261897;ENST00000380281	.	.	.	5.02	4.13	0.48395	.	0.000000	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.6369	12.5287	0.56102	0.0825:0.0:0.9175:0.0	.	.	.	.	X	142;114;120	.	.	W	+	3	0	PRPF40B	48313141	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.493000	0.90474	1.489000	0.48450	0.655000	0.94253	TGG		0.617	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		5	18	0	0	0	1	0	5	18				
DNAH9	1770	broad.mit.edu	37	17	11515122	11515122	+	Intron	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:11515122A>G	ENST00000262442.4	+	4	972				DNAH9_ENST00000454412.2_Intron|DNAH9_ENST00000579828.1_Missense_Mutation_p.Q310R	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTGTTTTCACAAATGTGTTTG	0.453																																						ENST00000579828.1																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(928-930)cAa>cGa		dynein, axonemal, heavy chain 9							105.0	96.0	99.0					17																	11515122		2203	4300	6503	SO:0001627	intron_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11515122A>G	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.904+25A>G	17.37:g.11515122A>G						DNAH9_ENST00000454412.2_Intron|DNAH9_ENST00000262442.3_Intron|DNAH9_ENST00000579406.1_Intron	p.Q310R			Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	4	958	+		Breast(5;0.0122)|all_epithelial(5;0.131)	0			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.929A>G	CCDS11160.1																																																																																				0.453	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		4	115	0	0	0	1	0	4	115				
GPR75-ASB3	100302652	broad.mit.edu	37	2	53943802	53943802	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:53943802A>G	ENST00000263634.3	-	6	817	c.683T>C	c.(682-684)gTg>gCg	p.V228A	GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.V266A|ASB3_ENST00000406625.2_Missense_Mutation_p.V263A|GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.V155A|ASB3_ENST00000498475.2_5'UTR|GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.V155A|GPR75-ASB3_ENST00000482829.1_5'UTR	NM_016115.4	NP_057199.1			GPR75-ASB3 readthrough																		CAAAAGCTCCACACATTTTGT	0.443																																						ENST00000263634.3																			0											c.(682-684)gTg>gCg									125.0	115.0	119.0					2																	53943802		2203	4300	6503	SO:0001583	missense	100302652				intracellular signal transduction			g.chr2:53943802A>G		CCDS54361.1	2p16	2013-01-23			ENSG00000115239	ENSG00000115239			40043	other	readthrough							Standard	NM_001164165		Approved				OTTHUMG00000129279	ENST00000263634.3:c.683T>C	2.37:g.53943802A>G	ENSP00000263634:p.Val228Ala					GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.V155A|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.V266A|ASB3_ENST00000498475.2_5'UTR|GPR75-ASB3_ENST00000482829.1_5'UTR|ASB3_ENST00000406625.2_Missense_Mutation_p.V263A|GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.V155A	p.V228A	NM_016115.4	NP_057199.1	Q2TAI4	Q2TAI4_HUMAN			6	817	-			263						Missense_Mutation	SNP	ENST00000263634.3	37	c.683T>C	CCDS1846.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.743298	0.89663	.	.	ENSG00000115239	ENST00000263634;ENST00000406625;ENST00000406687;ENST00000394717;ENST00000352846;ENST00000446049	T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22	5.26	5.26	0.73747	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.74966	0.3786	L	0.38692	1.165	0.37896	D	0.930894	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.998	T	0.80009	-0.1562	9	0.72032	D	0.01	-3.2162	15.4694	0.75429	1.0:0.0:0.0:0.0	.	145;263;228	B4DZX6;Q2TAI4;Q9Y575	.;.;ASB3_HUMAN	A	228;263;155;155;266;145	ENSP00000263634:V228A;ENSP00000385085:V263A;ENSP00000384728:V155A;ENSP00000378206:V155A;ENSP00000313756:V266A	ENSP00000263634:V228A	V	-	2	0	ASB3	53797306	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.590000	0.90821	2.121000	0.65114	0.482000	0.46254	GTG		0.443	GPR75-ASB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251402.3			4	128	0	0	0	1	0	4	128				
ASPM	259266	broad.mit.edu	37	1	197094316	197094316	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:197094316G>A	ENST00000367409.4	-	11	3198	c.2942C>T	c.(2941-2943)aCc>aTc	p.T981I	ASPM_ENST00000294732.7_Missense_Mutation_p.T981I|ASPM_ENST00000367408.1_Missense_Mutation_p.T231I	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	981	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AAGTTCCATGGTTCGCCTGGC	0.368																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(2941-2943)aCc>aTc		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							86.0	85.0	85.0					1																	197094316		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197094316G>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.2942C>T	1.37:g.197094316G>A	ENSP00000356379:p.Thr981Ile					ASPM_ENST00000294732.7_Missense_Mutation_p.T981I|ASPM_ENST00000367408.1_Missense_Mutation_p.T231I	p.T981I	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			11	3198	-			981			CH 1.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.2942C>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.412687	0.42817	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.57595	0.39;0.39;0.39	5.74	3.83	0.44106	Calponin homology domain (4);	0.334600	0.29307	N	0.012528	T	0.33147	0.0853	N	0.16368	0.405	0.33887	D	0.636821	B;P	0.36222	0.003;0.544	B;B	0.34093	0.006;0.175	T	0.41698	-0.9494	10	0.20046	T	0.44	.	12.0738	0.53632	0.1429:0.0:0.8571:0.0	.	981;981	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	I	981;981;231	ENSP00000356379:T981I;ENSP00000294732:T981I;ENSP00000356378:T231I	ENSP00000294732:T981I	T	-	2	0	ASPM	195360939	1.000000	0.71417	0.994000	0.49952	0.909000	0.53808	3.255000	0.51484	0.848000	0.35191	0.563000	0.77884	ACC		0.368	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		19	103	0	0	0	1	0	19	103				
R3HDM2	22864	broad.mit.edu	37	12	57648753	57648753	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:57648753C>A	ENST00000347140.3	-	24	3124	c.2734G>T	c.(2734-2736)Ggg>Tgg	p.G912W	R3HDM2_ENST00000403821.2_Missense_Mutation_p.G946W|RP11-123K3.4_ENST00000548184.1_Intron|R3HDM2_ENST00000402412.1_Missense_Mutation_p.G926W|R3HDM2_ENST00000441731.2_Missense_Mutation_p.G607W|R3HDM2_ENST00000413953.2_Intron|R3HDM2_ENST00000358907.2_Missense_Mutation_p.G912W			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	912	Poly-Gly.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CTGTTGTCCCCCCCACCCCCT	0.632																																						ENST00000402412.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(2776-2778)Ggg>Tgg		R3H domain containing 2							54.0	50.0	51.0					12																	57648753		2203	4300	6503	SO:0001583	missense	22864					nucleus	nucleic acid binding	g.chr12:57648753C>A	AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.2734G>T	12.37:g.57648753C>A	ENSP00000317903:p.Gly912Trp					R3HDM2_ENST00000413953.2_Intron|R3HDM2_ENST00000403821.2_Missense_Mutation_p.G946W|R3HDM2_ENST00000393811.2_Missense_Mutation_p.G639W|R3HDM2_ENST00000358907.2_Missense_Mutation_p.G912W|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000441731.2_Missense_Mutation_p.G607W|R3HDM2_ENST00000347140.3_Missense_Mutation_p.G912W	p.G926W			Q9Y2K5	R3HD2_HUMAN			24	3166	-			912					Q2M1T9|Q3ZCT5	Missense_Mutation	SNP	ENST00000347140.3	37	c.2776G>T	CCDS8937.2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071621	0.76301	.	.	ENSG00000179912	ENST00000393811;ENST00000347140;ENST00000402412;ENST00000358907;ENST00000441731;ENST00000429355;ENST00000403821	T;T;T;T;T;T;T	0.52295	0.67;1.66;1.67;1.66;0.68;1.29;1.65	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.59689	0.2212	L	0.39898	1.24	0.40235	D	0.977899	D;D;D;D	0.65815	0.975;0.975;0.986;0.995	P;P;P;D	0.63113	0.498;0.498;0.87;0.911	T	0.62081	-0.6929	10	0.87932	D	0	-7.738	18.0941	0.89483	0.0:1.0:0.0:0.0	.	946;926;912;639	B5MCG9;B5MCU0;Q9Y2K5;E9PAL1	.;.;R3HD2_HUMAN;.	W	639;912;926;912;607;677;946	ENSP00000377400:G639W;ENSP00000317903:G912W;ENSP00000385839:G926W;ENSP00000351784:G912W;ENSP00000408536:G607W;ENSP00000394676:G677W;ENSP00000385169:G946W	ENSP00000317903:G912W	G	-	1	0	R3HDM2	55935020	0.129000	0.22400	0.999000	0.59377	0.873000	0.50193	2.785000	0.47782	2.885000	0.99019	0.655000	0.94253	GGG		0.632	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925		17	65	1	0	1.15088e-07	1	1.26397e-07	17	65				
ANKRD20A11P	391267	broad.mit.edu	37	21	15323555	15323555	+	RNA	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr21:15323555T>C	ENST00000344693.5	-	0	847					NR_027270.1				ankyrin repeat domain 20 family, member A11, pseudogene																		TTAATTACCTTCAAGGAAGGA	0.323																																						ENST00000344693.5																			0																																																			391267							g.chr21:15323555T>C			21q11.2	2011-11-23			ENSG00000215559	ENSG00000215559			42024	pseudogene	pseudogene			"""chromosome 21 open reading frame 81"""	C21orf81			Standard	NR_027270		Approved		uc002yjj.4		OTTHUMG00000074237		21.37:g.15323555T>C								NR_027270.1						0	847	-									RNA	SNP	ENST00000344693.5	37																																																																																						0.323	ANKRD20A11P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157750.1			53	264	0	0	0	1	0	53	264				
TNPO3	23534	broad.mit.edu	37	7	128640604	128640604	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:128640604C>T	ENST00000265388.5	-	7	1033	c.890G>A	c.(889-891)cGt>cAt	p.R297H	TNPO3_ENST00000471234.1_Missense_Mutation_p.R297H|TNPO3_ENST00000393245.1_Missense_Mutation_p.R297H|TNPO3_ENST00000482320.1_Missense_Mutation_p.R231H|TNPO3_ENST00000471166.1_Missense_Mutation_p.R297H			Q9Y5L0	TNPO3_HUMAN	transportin 3	297					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						AGTGAAAATACGGCAGTAATT	0.378																																					Pancreas(147;583 2585 39696 52331)	ENST00000393245.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						c.(889-891)cGt>cAt		transportin 3							64.0	70.0	68.0					7																	128640604		2203	4300	6503	SO:0001583	missense	23534				splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity	g.chr7:128640604C>T	AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"""Importins"""	17103	protein-coding gene	gene with protein product	"""importin 12"""	610032	"""limb girdle muscular dystrophy 1F (autosomal dominant)"""	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.890G>A	7.37:g.128640604C>T	ENSP00000265388:p.Arg297His					TNPO3_ENST00000482320.1_Missense_Mutation_p.R231H|TNPO3_ENST00000265388.5_Missense_Mutation_p.R297H|TNPO3_ENST00000471234.1_Missense_Mutation_p.R297H|TNPO3_ENST00000471166.1_Missense_Mutation_p.R297H	p.R297H	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN			7	1263	-			297					A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Missense_Mutation	SNP	ENST00000265388.5	37	c.890G>A	CCDS5809.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599153	0.87055	.	.	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000482320;ENST00000471234;ENST00000471166	T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36	5.76	5.76	0.90799	Armadillo-like helical (1);Armadillo-type fold (1);	0.102888	0.64402	D	0.000004	T	0.75384	0.3842	L	0.43598	1.365	0.58432	D	0.999998	P;D;P	0.89917	0.915;1.0;0.902	B;D;B	0.68483	0.373;0.958;0.179	T	0.74106	-0.3772	10	0.48119	T	0.1	.	15.8181	0.78621	0.0:1.0:0.0:0.0	.	297;297;297	C9IZM0;C9J7E5;Q9Y5L0	.;.;TNPO3_HUMAN	H	297;297;231;297;297	ENSP00000376936:R297H;ENSP00000265388:R297H;ENSP00000420089:R231H;ENSP00000418646:R297H;ENSP00000418267:R297H	ENSP00000265388:R297H	R	-	2	0	TNPO3	128427840	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.687000	0.84139	2.879000	0.98667	0.650000	0.86243	CGT		0.378	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1	NM_012470		25	60	0	0	0	1	0	25	60				
PLEKHN1	84069	broad.mit.edu	37	1	907526	907526	+	Silent	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:907526T>C	ENST00000379409.2	+	8	1047	c.1017T>C	c.(1015-1017)atT>atC	p.I339I	PLEKHN1_ENST00000379410.3_Silent_p.I287I|PLEKHN1_ENST00000379407.3_Silent_p.I299I			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	339	PH 2.									central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CCTTCCTGATTGAAGGTAGGG	0.667																																						ENST00000379409.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9						c.(1015-1017)atT>atC		pleckstrin homology domain containing, family N member 1							69.0	66.0	67.0					1																	907526		2203	4300	6503	SO:0001819	synonymous_variant	84069							g.chr1:907526T>C	AL136730	CCDS4.1, CCDS53256.1	1p36.33	2013-01-11			ENSG00000187583	ENSG00000187583		"""Pleckstrin homology (PH) domain containing"""	25284	protein-coding gene	gene with protein product						11230166	Standard	NM_032129		Approved	DKFZP434H2010	uc001acd.3	Q494U1	OTTHUMG00000040756	ENST00000379409.2:c.1017T>C	1.37:g.907526T>C						PLEKHN1_ENST00000379407.2_Silent_p.I299I|PLEKHN1_ENST00000379410.3_Silent_p.I287I	p.I339I			Q494U1	PKHN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	8	1047	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	339			PH 2.		Q494U2|Q5SV98|Q9H0M7	Silent	SNP	ENST00000379409.2	37	c.1017T>C																																																																																					0.667	PLEKHN1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000473256.1	NM_032129		18	47	0	0	0	1	0	18	47				
MKNK2	2872	broad.mit.edu	37	19	2037829	2037829	+	3'UTR	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:2037829C>A	ENST00000591601.1	-	0	3216				BTBD2_ENST00000590646.1_5'Flank|MKNK2_ENST00000591142.1_Splice_Site|MKNK2_ENST00000250896.3_3'UTR|MKNK2_ENST00000309340.7_Splice_Site			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2						cell surface receptor signaling pathway (GO:0007166)|cellular response to arsenic-containing substance (GO:0071243)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|hemopoiesis (GO:0030097)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTGTCCCACCTTCAGAAAAA	0.542																																						ENST00000309340.7																			0				breast(1)|kidney(3)|large_intestine(3)|lung(3)	10						c.e14-1		MAP kinase interacting serine/threonine kinase 2							24.0	24.0	24.0					19																	2037829		2202	4298	6500	SO:0001624	3_prime_UTR_variant	2872				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr19:2037829C>A	AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875			7111	protein-coding gene	gene with protein product	"""Putative map kinase interacting kinase"""	605069	"""G protein-coupled receptor kinase 7"""	GPRK7		11013076	Standard	NM_199054		Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.*1783G>T	19.37:g.2037829C>A						MKNK2_ENST00000591601.1_3'UTR|MKNK2_ENST00000591142.1_Splice_Site|MKNK2_ENST00000250896.3_3'UTR		NM_017572.3	NP_060042.2	Q9HBH9	MKNK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	1379	-		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)						Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Splice_Site	SNP	ENST00000591601.1	37		CCDS12080.1	.	.	.	.	.	.	.	.	.	.	c	6.952	0.545504	0.13312	.	.	ENSG00000099875	ENST00000309340	.	.	.	3.26	-1.32	0.09201	.	.	.	.	.	.	.	.	.	.	.	0.19945	N	0.999945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.4756	0.22034	0.0:0.5365:0.0:0.4635	.	.	.	.	.	-1	.	.	.	-	.	.	MKNK2	1988829	0.284000	0.24287	0.001000	0.08648	0.209000	0.24338	1.849000	0.39318	-0.288000	0.09051	0.549000	0.68633	.		0.542	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449312.1	NM_199054		13	12	1	0	5.01169e-05	1	5.37978e-05	13	12				
TRPM4	54795	broad.mit.edu	37	19	49671906	49671906	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:49671906G>T	ENST00000252826.5	+	6	835	c.709G>T	c.(709-711)Gac>Tac	p.D237Y	TRPM4_ENST00000601347.1_3'UTR|TRPM4_ENST00000427978.2_Missense_Mutation_p.D237Y|TRPM4_ENST00000355712.5_5'UTR	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	237					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CCTGGTGGACGACGGCACACA	0.652																																						ENST00000252826.5																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.(709-711)Gac>Tac		transient receptor potential cation channel, subfamily M, member 4							38.0	35.0	36.0					19																	49671906		2203	4300	6503	SO:0001583	missense	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49671906G>T	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.709G>T	19.37:g.49671906G>T	ENSP00000252826:p.Asp237Tyr					TRPM4_ENST00000601347.1_3'UTR|TRPM4_ENST00000355712.5_5'UTR|TRPM4_ENST00000427978.2_Missense_Mutation_p.D237Y	p.D237Y	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	6	835	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	237					A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	c.709G>T	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.859467	0.51376	.	.	ENSG00000130529	ENST00000252826;ENST00000427978	T;T	0.11930	2.73;2.73	4.49	4.49	0.54785	.	0.133955	0.48286	D	0.000199	T	0.37625	0.1010	M	0.84219	2.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.993;0.993	T	0.18745	-1.0327	10	0.72032	D	0.01	-18.5156	10.7682	0.46305	0.0928:0.0:0.9072:0.0	.	63;237;237	Q8TD43-2;Q8TD43-3;Q8TD43	.;.;TRPM4_HUMAN	Y	237	ENSP00000252826:D237Y;ENSP00000407492:D237Y	ENSP00000252826:D237Y	D	+	1	0	TRPM4	54363718	1.000000	0.71417	0.990000	0.47175	0.308000	0.27856	4.884000	0.63135	2.531000	0.85337	0.555000	0.69702	GAC		0.652	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		22	16	1	0	2.37509e-13	1	2.77988e-13	22	16				
IL17B	27190	broad.mit.edu	37	5	148756445	148756445	+	Silent	SNP	C	C	T	rs376026730		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:148756445C>T	ENST00000261796.3	-	2	215	c.165G>A	c.(163-165)ccG>ccA	p.P55P	RP11-394O4.3_ENST00000521756.1_RNA|IL17B_ENST00000505432.1_5'UTR	NM_014443.2	NP_055258.1	Q9UHF5	IL17B_HUMAN	interleukin 17B	55					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGGGCATACGGTTTCATCC	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		20185	0.0		0.0	False		,,,				2504	0.001					ENST00000261796.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8						c.(163-165)ccG>ccA		interleukin 17B		C		0,4406		0,0,2203	105.0	99.0	101.0		165	-9.9	0.0	5		101	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	IL17B	NM_014443.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		55/181	148756445	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27190				cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity	g.chr5:148756445C>T	AF184969	CCDS4297.1	5q33.1	2011-07-14			ENSG00000127743	ENSG00000127743		"""Interleukins and interleukin receptors"""	5982	protein-coding gene	gene with protein product	"""neuronal interleukin-17-related factor"""	604627				10639155	Standard	NM_014443		Approved	IL-17B, ZCYTO7, IL-20, MGC138900, MGC138901, NIRF	uc003lqo.3	Q9UHF5	OTTHUMG00000130051	ENST00000261796.3:c.165G>A	5.37:g.148756445C>T						IL17B_ENST00000505432.1_5'UTR	p.P55P	NM_014443.2	NP_055258.1	Q9UHF5	IL17B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	215	-			55					Q14CE5	Silent	SNP	ENST00000261796.3	37	c.165G>A	CCDS4297.1																																																																																				0.622	IL17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252330.1	NM_014443		54	17	0	0	0	1	0	54	17				
UPF1	5976	broad.mit.edu	37	19	18964096	18964096	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:18964096C>T	ENST00000599848.1	+	8	1335	c.1126C>T	c.(1126-1128)Cgg>Tgg	p.R376W	UPF1_ENST00000262803.5_Missense_Mutation_p.R365W			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	376	Sufficient for interaction with RENT2.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GATATGCCTGCGGTACAAAGG	0.567																																						ENST00000262803.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(1093-1095)Cgg>Tgg		UPF1 regulator of nonsense transcripts homolog (yeast)							64.0	58.0	60.0					19																	18964096		2203	4300	6503	SO:0001583	missense	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr19:18964096C>T	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.1126C>T	19.37:g.18964096C>T	ENSP00000470142:p.Arg376Trp					UPF1_ENST00000599848.1_Missense_Mutation_p.R376W	p.R365W	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN			8	1365	+			376			Sufficient for interaction with RENT2.		O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37	c.1093C>T		.	.	.	.	.	.	.	.	.	.	C	14.77	2.633942	0.47049	.	.	ENSG00000005007	ENST00000262803	D	0.90955	-2.76	4.69	3.64	0.41730	.	0.061492	0.64402	D	0.000007	D	0.89812	0.6823	M	0.82630	2.6	0.80722	D	1	B;B	0.30439	0.183;0.279	B;B	0.27500	0.024;0.08	D	0.88340	0.2974	10	0.54805	T	0.06	-47.8306	11.3927	0.49824	0.4594:0.5406:0.0:0.0	.	376;365	Q92900;Q92900-2	RENT1_HUMAN;.	W	365	ENSP00000262803:R365W	ENSP00000262803:R365W	R	+	1	2	UPF1	18825096	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.786000	0.38694	1.096000	0.41439	0.609000	0.83330	CGG		0.567	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		20	72	0	0	0	1	0	20	72				
SLC4A11	83959	broad.mit.edu	37	20	3212126	3212126	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:3212126G>A	ENST00000380056.3	-	7	893	c.846C>T	c.(844-846)cgC>cgT	p.R282R	SLC4A11_ENST00000539553.2_Silent_p.R266R|SLC4A11_ENST00000380059.3_Silent_p.R309R|SLC4A11_ENST00000488544.1_5'Flank	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	282			R -> P (in FECD4; interferes with post- translational processing; the mutant protein localizes to the cytoplasm). {ECO:0000269|PubMed:20848555}.		bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GGAGCTTCTGGCGGAAGGCGA	0.592																																					NSCLC(190;922 2139 10266 10292 38692)	ENST00000380059.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						c.(925-927)cgC>cgT		solute carrier family 4, sodium borate transporter, member 11							103.0	99.0	100.0					20																	3212126		2203	4300	6503	SO:0001819	synonymous_variant	83959				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	g.chr20:3212126G>A	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.846C>T	20.37:g.3212126G>A						SLC4A11_ENST00000380056.3_Silent_p.R282R|SLC4A11_ENST00000539553.1_Silent_p.R266R|SLC4A11_ENST00000474451.1_5'UTR	p.R309R	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN			8	1028	-			282					B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Silent	SNP	ENST00000380056.3	37	c.927C>T	CCDS13052.1																																																																																				0.592	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			48	97	0	0	0	1	0	48	97				
MYO9B	4650	broad.mit.edu	37	19	17309065	17309065	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:17309065G>A	ENST00000594824.1	+	24	4333	c.4186G>A	c.(4186-4188)Gca>Aca	p.A1396T	MYO9B_ENST00000397274.2_Missense_Mutation_p.A1396T|MYO9B_ENST00000595618.1_Missense_Mutation_p.A1396T			Q13459	MYO9B_HUMAN	myosin IXB	1396	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCCAGGCGACGCATCCTCCCT	0.622																																						ENST00000595618.1																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(4186-4188)Gca>Aca		myosin IXB							71.0	87.0	82.0					19																	17309065		2038	4177	6215	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17309065G>A		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.4186G>A	19.37:g.17309065G>A	ENSP00000471367:p.Ala1396Thr					MYO9B_ENST00000397274.2_Missense_Mutation_p.A1396T|MYO9B_ENST00000594824.1_Missense_Mutation_p.A1396T	p.A1396T	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN			24	4338	+			1396			Tail.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.4186G>A		.	.	.	.	.	.	.	.	.	.	G	8.274	0.814054	0.16537	.	.	ENSG00000099331	ENST00000397274	D	0.84223	-1.82	4.74	-4.53	0.03462	.	2.071040	0.02412	N	0.081735	T	0.64327	0.2588	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.0;0.0;0.001	T	0.56577	-0.7956	10	0.12430	T	0.62	.	2.2487	0.04038	0.2716:0.3905:0.2247:0.1132	.	1396;1396;1402	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	T	1396	ENSP00000380444:A1396T	ENSP00000380444:A1396T	A	+	1	0	MYO9B	17170065	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.896000	0.04114	-0.346000	0.08312	0.491000	0.48974	GCA		0.622	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			9	61	0	0	0	1	0	9	61				
SAMD4B	55095	broad.mit.edu	37	19	39870622	39870622	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:39870622A>G	ENST00000314471.6	+	12	2582	c.1547A>G	c.(1546-1548)cAg>cGg	p.Q516R	SAMD4B_ENST00000598913.1_Missense_Mutation_p.Q516R|SAMD4B_ENST00000596368.1_Intron	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	516					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			ACGGAGACGCAGAAGAAACGG	0.527																																						ENST00000314471.6																			0				autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15						c.(1546-1548)cAg>cGg		sterile alpha motif domain containing 4B							57.0	52.0	54.0					19																	39870622		2203	4300	6503	SO:0001583	missense	55095						protein binding	g.chr19:39870622A>G		CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"""Sterile alpha motif (SAM) domain containing"""	25492	protein-coding gene	gene with protein product	"""smaug homolog B (Drosophila)"""					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.1547A>G	19.37:g.39870622A>G	ENSP00000317224:p.Gln516Arg					SAMD4B_ENST00000598913.1_Missense_Mutation_p.Q516R|SAMD4B_ENST00000596368.1_Intron	p.Q516R	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		12	2582	+	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		516					A5Z0M6|Q6P194	Missense_Mutation	SNP	ENST00000314471.6	37	c.1547A>G	CCDS33020.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.602847	0.87157	.	.	ENSG00000179134	ENST00000314471;ENST00000429637	.	.	.	4.74	4.74	0.60224	Smaug, pseudo-HEAT analogous topology (1);	0.129807	0.52532	D	0.000062	T	0.53384	0.1793	M	0.68952	2.095	0.41794	D	0.989887	B;B	0.33694	0.421;0.421	B;B	0.27608	0.081;0.081	T	0.61729	-0.7003	9	0.87932	D	0	.	12.4981	0.55940	1.0:0.0:0.0:0.0	.	516;516	Q5PRF9;A5Z0M6	SMAG2_HUMAN;.	R	516	.	ENSP00000317224:Q516R	Q	+	2	0	SAMD4B	44562462	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.673000	0.91186	2.116000	0.64780	0.377000	0.23210	CAG		0.527	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464467.1	NM_018028		16	14	0	0	0	1	0	16	14				
OGFR	11054	broad.mit.edu	37	20	61443806	61443806	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:61443806C>T	ENST00000290291.6	+	7	864	c.839C>T	c.(838-840)cCc>cTc	p.P280L	OGFR_ENST00000370461.1_Missense_Mutation_p.P228L	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	280					opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	opioid receptor activity (GO:0004985)			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					CACTTCCGGCCCCGCTGCAAG	0.677																																						ENST00000370461.1																			0				endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17						c.(682-684)cCc>cTc		opioid growth factor receptor							8.0	9.0	9.0					20																	61443806		2165	4259	6424	SO:0001583	missense	11054				regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity	g.chr20:61443806C>T	AF109134	CCDS13504.1	20q13.3	2008-05-02			ENSG00000060491	ENSG00000060491			15768	protein-coding gene	gene with protein product		606459				10677613	Standard	NM_007346		Approved	7-60	uc002ydj.3	Q9NZT2	OTTHUMG00000032937	ENST00000290291.6:c.839C>T	20.37:g.61443806C>T	ENSP00000290291:p.Pro280Leu					OGFR_ENST00000370468.3_Missense_Mutation_p.P280L|OGFR_ENST00000290291.6_Missense_Mutation_p.P280L	p.P228L			Q9NZT2	OGFR_HUMAN			5	2960	+	Breast(26;3.65e-08)		280					O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Missense_Mutation	SNP	ENST00000290291.6	37	c.683C>T	CCDS13504.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463494	0.63513	.	.	ENSG00000060491	ENST00000290291;ENST00000370468;ENST00000357163;ENST00000370469;ENST00000370461	T;T;T	0.59906	0.96;0.23;0.5	4.72	3.75	0.43078	Opioid growth factor receptor (OGFr) conserved domain (1);	0.173657	0.52532	D	0.000080	T	0.74207	0.3686	M	0.77820	2.39	0.41332	D	0.987244	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.77557	0.99;0.986;0.986	T	0.77300	-0.2639	10	0.87932	D	0	-9.5314	12.0278	0.53382	0.3144:0.6856:0.0:0.0	.	280;263;280	B3KMQ6;Q05BV5;Q9NZT2	.;.;OGFR_HUMAN	L	280;280;280;135;228	ENSP00000290291:P280L;ENSP00000359499:P280L;ENSP00000359491:P228L	ENSP00000290291:P280L	P	+	2	0	OGFR	60914251	0.997000	0.39634	0.272000	0.24630	0.858000	0.48976	3.542000	0.53625	0.922000	0.37019	0.561000	0.74099	CCC		0.677	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1			3	12	0	0	0	1	0	3	12				
NBEA	26960	broad.mit.edu	37	13	35615073	35615073	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr13:35615073G>A	ENST00000400445.3	+	2	832	c.298G>A	c.(298-300)Gtt>Att	p.V100I	NBEA_ENST00000540320.1_Missense_Mutation_p.V100I|NBEA_ENST00000310336.4_Missense_Mutation_p.V100I|NBEA_ENST00000379939.2_Missense_Mutation_p.V100I	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	100					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTTTCAGCTGGTTGGTGGAGA	0.358																																						ENST00000540320.1																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(298-300)Gtt>Att		neurobeachin							97.0	89.0	91.0					13																	35615073		1862	4116	5978	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35615073G>A	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.298G>A	13.37:g.35615073G>A	ENSP00000383295:p.Val100Ile					NBEA_ENST00000310336.4_Missense_Mutation_p.V100I|NBEA_ENST00000400445.3_Missense_Mutation_p.V100I|NBEA_ENST00000379939.2_Missense_Mutation_p.V100I	p.V100I			Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	2	832	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	100					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.298G>A	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	32	5.111789	0.94339	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.63580	-0.05;-0.04;-0.04;-0.05	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.80989	0.4730	M	0.80982	2.52	0.80722	D	1	D	0.58970	0.984	D	0.68192	0.956	T	0.81267	-0.1010	10	0.54805	T	0.06	.	19.9462	0.97183	0.0:0.0:1.0:0.0	.	100	Q5T321	.	I	100	ENSP00000440951:V100I;ENSP00000383295:V100I;ENSP00000369271:V100I;ENSP00000308534:V100I	ENSP00000308534:V100I	V	+	1	0	NBEA	34513073	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.869000	0.99810	2.717000	0.92951	0.585000	0.79938	GTT		0.358	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		9	102	0	0	0	1	0	9	102				
LGMN	5641	broad.mit.edu	37	14	93185102	93185102	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:93185102A>G	ENST00000393218.2	-	4	563	c.226T>C	c.(226-228)Tac>Cac	p.Y76H	LGMN_ENST00000555699.1_Missense_Mutation_p.Y76H|LGMN_ENST00000334869.4_Missense_Mutation_p.Y76H|LGMN_ENST00000557434.1_Missense_Mutation_p.Y76H	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	76					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|innate immune response (GO:0045087)|negative regulation of ERBB signaling pathway (GO:1901185)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of neuron apoptotic process (GO:0043524)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|receptor catabolic process (GO:0032801)|renal system process (GO:0003014)|response to acidic pH (GO:0010447)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|toll-like receptor signaling pathway (GO:0002224)|vitamin D metabolic process (GO:0042359)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		TCTTCAGAGTAAGCAATGTCA	0.473																																						ENST00000393218.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18						c.(226-228)Tac>Cac		legumain							162.0	136.0	145.0					14																	93185102		2203	4300	6503	SO:0001583	missense	5641				hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity	g.chr14:93185102A>G	D55696	CCDS9904.1	14q32.12	2011-04-08		2002-01-18	ENSG00000100600	ENSG00000100600			9472	protein-coding gene	gene with protein product		602620	"""protease, cysteine, 1 (legumain)"""	PRSC1		8893817, 9065484	Standard	NM_001008530		Approved	LGMN1	uc001yaw.3	Q99538		ENST00000393218.2:c.226T>C	14.37:g.93185102A>G	ENSP00000376911:p.Tyr76His					LGMN_ENST00000334869.4_Missense_Mutation_p.Y76H|LGMN_ENST00000555699.1_Missense_Mutation_p.Y76H|LGMN_ENST00000557434.1_Missense_Mutation_p.Y76H	p.Y76H	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN		COAD - Colon adenocarcinoma(157;0.224)	4	563	-		all_cancers(154;0.0706)	76					O00123|Q86TV2|Q86TV3|Q9BTY1	Missense_Mutation	SNP	ENST00000393218.2	37	c.226T>C	CCDS9904.1	.	.	.	.	.	.	.	.	.	.	A	0.322	-0.961209	0.02249	.	.	ENSG00000100600	ENST00000555699;ENST00000334869;ENST00000557434;ENST00000334864;ENST00000262004;ENST00000393218;ENST00000539531;ENST00000554397;ENST00000554919	T;T;T;T;T;T	0.42131	0.98;1.0;0.99;1.0;1.0;1.0	5.82	1.71	0.24356	.	0.573762	0.21457	N	0.074222	T	0.20577	0.0495	N	0.17474	0.49	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.10450	0.001;0.005;0.001	T	0.17899	-1.0354	10	0.15066	T	0.55	-33.4642	5.1981	0.15249	0.3841:0.0981:0.0:0.5178	.	76;76;76	Q99538;Q86TV2;Q86TV3	LGMN_HUMAN;.;.	H	76;76;76;76;76;76;53;76;76	ENSP00000451861:Y76H;ENSP00000334052:Y76H;ENSP00000452572:Y76H;ENSP00000376911:Y76H;ENSP00000450677:Y76H;ENSP00000451916:Y76H	ENSP00000262004:Y76H	Y	-	1	0	LGMN	92254855	0.003000	0.15002	0.891000	0.34965	0.014000	0.08584	-0.210000	0.09345	0.446000	0.26666	-0.347000	0.07816	TAC		0.473	LGMN-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412288.1	NM_005606		32	158	0	0	0	1	0	32	158				
RAB11FIP4	84440	broad.mit.edu	37	17	29848958	29848958	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:29848958C>T	ENST00000325874.8	+	6	1013	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.R160W	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	262	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032)	cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)	p.R262W(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				TAGGAAAATGCGGCACGTGTA	0.502																																						ENST00000325874.8																			1	Substitution - Missense(1)	p.R262W(1)	lung(1)	endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(784-786)Cgg>Tgg		RAB11 family interacting protein 4 (class II)							107.0	99.0	101.0					17																	29848958		2203	4300	6503	SO:0001583	missense	84440				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr17:29848958C>T	AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242		"""EF-hand domain containing"""	30267	protein-coding gene	gene with protein product		611999				11347906, 11468690	Standard	NM_032932		Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	ENST00000325874.8:c.784C>T	17.37:g.29848958C>T	ENSP00000312837:p.Arg262Trp					RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.R160W	p.R262W	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN			6	1013	+		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)	262			Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.		Q52LI1|Q8N829|Q8NDT7|Q969D8	Missense_Mutation	SNP	ENST00000325874.8	37	c.784C>T	CCDS11267.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525956	0.64860	.	.	ENSG00000131242	ENST00000325874;ENST00000394744	.	.	.	5.99	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.69895	0.3162	L	0.57536	1.79	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.70935	0.971;0.965	T	0.67768	-0.5585	8	.	.	.	-27.7238	13.2071	0.59803	0.1691:0.8309:0.0:0.0	.	160;262	Q86YS3-2;Q86YS3	.;RFIP4_HUMAN	W	262	.	.	R	+	1	2	RAB11FIP4	26873078	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	2.112000	0.41892	2.840000	0.97914	0.655000	0.94253	CGG		0.502	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256195.2	NM_032932		12	58	0	0	0	1	0	12	58				
CLSPN	63967	broad.mit.edu	37	1	36228057	36228057	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:36228057C>A	ENST00000318121.3	-	5	827	c.770G>T	c.(769-771)gGg>gTg	p.G257V	CLSPN_ENST00000520551.1_Missense_Mutation_p.G257V|CLSPN_ENST00000373220.3_Missense_Mutation_p.G257V|CLSPN_ENST00000251195.5_Missense_Mutation_p.G257V	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	257					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGAATGGACCCCACTCTCCAA	0.393																																						ENST00000251195.5																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(769-771)gGg>gTg		claspin							115.0	107.0	110.0					1																	36228057		2203	4300	6503	SO:0001583	missense	63967				activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding	g.chr1:36228057C>A	AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.770G>T	1.37:g.36228057C>A	ENSP00000312995:p.Gly257Val					CLSPN_ENST00000520551.1_Missense_Mutation_p.G257V|CLSPN_ENST00000373220.3_Missense_Mutation_p.G257V|CLSPN_ENST00000318121.3_Missense_Mutation_p.G257V	p.G257V			Q9HAW4	CLSPN_HUMAN			5	866	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	257					A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Missense_Mutation	SNP	ENST00000318121.3	37	c.770G>T	CCDS396.1	.	.	.	.	.	.	.	.	.	.	C	6.051	0.377821	0.11466	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551;ENST00000544356	T;T;T;T	0.24151	1.9;1.91;1.87;1.89	5.31	0.0992	0.14501	.	0.772345	0.12141	N	0.495896	T	0.38612	0.1047	L	0.56769	1.78	0.29592	N	0.848389	P;D	0.67145	0.665;0.996	P;P	0.62298	0.607;0.9	T	0.31998	-0.9923	10	0.37606	T	0.19	-2.5215	9.025	0.36224	0.0:0.5823:0.0:0.4177	.	257;257	Q9HAW4-2;Q9HAW4	.;CLSPN_HUMAN	V	257	ENSP00000251195:G257V;ENSP00000312995:G257V;ENSP00000362317:G257V;ENSP00000428848:G257V	ENSP00000251195:G257V	G	-	2	0	CLSPN	36000644	0.000000	0.05858	0.017000	0.16124	0.004000	0.04260	-0.381000	0.07417	-0.022000	0.13986	-1.898000	0.00530	GGG		0.393	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111		22	56	1	0	1.10513e-12	1	1.29083e-12	22	56				
SLC34A1	6569	broad.mit.edu	37	5	176824887	176824887	+	Missense_Mutation	SNP	G	G	A	rs200137299		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:176824887G>A	ENST00000324417.5	+	13	1611	c.1520G>A	c.(1519-1521)cGc>cAc	p.R507H	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	507					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGGGAAACGCACGGCCAAG	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17541	0.0		0.0	False		,,,				2504	0.0					ENST00000324417.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1519-1521)cGc>cAc		solute carrier family 34 (type II sodium/phosphate contransporter), member 1		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	131.0	108.0	116.0		1520	4.3	0.9	5		116	0,8600		0,0,4300	no	missense	SLC34A1	NM_003052.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	507/640	176824887	1,13005	2203	4300	6503	SO:0001583	missense	6569				phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr5:176824887G>A	L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"""Solute carriers"""	11019	protein-coding gene	gene with protein product	"""sodium/phosphate co-transporter"", ""solute carrier family 17 (sodium phosphate), member 2"", ""Na+-phosphate cotransporter type II"""	182309	"""solute carrier family 34 (sodium phosphate), member 1"""	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.1520G>A	5.37:g.176824887G>A	ENSP00000321424:p.Arg507His					SLC34A1_ENST00000513614.1_3'UTR	p.R507H	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		13	1611	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	507					B4DPE3	Missense_Mutation	SNP	ENST00000324417.5	37	c.1520G>A	CCDS4418.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	5.431	0.264725	0.10294	2.27E-4	0.0	ENSG00000131183	ENST00000324417	T	0.31769	1.48	5.22	4.33	0.51752	.	0.178871	0.48286	D	0.000194	T	0.25419	0.0618	L	0.49126	1.545	0.36431	D	0.864928	B	0.21688	0.059	B	0.11329	0.006	T	0.17198	-1.0377	10	0.39692	T	0.17	-14.7229	7.4012	0.26965	0.0766:0.0:0.6236:0.2998	.	507	Q06495	NPT2A_HUMAN	H	507	ENSP00000321424:R507H	ENSP00000321424:R507H	R	+	2	0	SLC34A1	176757493	0.986000	0.35501	0.909000	0.35828	0.163000	0.22366	3.109000	0.50345	1.148000	0.42385	0.305000	0.20034	CGC		0.607	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1	NM_003052		35	43	0	0	0	1	0	35	43				
MINK1	50488	broad.mit.edu	37	17	4788779	4788779	+	Splice_Site	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:4788779G>A	ENST00000355280.6	+	7	706	c.510G>A	c.(508-510)gtG>gtA	p.V170V	MINK1_ENST00000347992.7_Splice_Site_p.V170V|MINK1_ENST00000453408.3_Splice_Site_p.V170V|RN7SL784P_ENST00000577319.1_RNA	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2			misshapen-like kinase 1											central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						TCTTCACAGTGGATTTTGGGG	0.592																																						ENST00000355280.6																			0				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						c.e7-1		misshapen-like kinase 1							89.0	97.0	94.0					17																	4788779		2153	4250	6403	SO:0001630	splice_region_variant	50488				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr17:4788779G>A	AY775058	CCDS45588.1, CCDS45589.1, CCDS45590.1	17p13.2	2011-04-14	2010-06-24		ENSG00000141503	ENSG00000141503			17565	protein-coding gene	gene with protein product	"""misshapen/NIK-related kinase"""	609426	"""misshapen-like kinase 1 (zebrafish)"""			10708748, 12087176	Standard	NM_015716		Approved	B55, MINK, ZC3, MAP4K6, YSK2	uc010vsl.2	Q8N4C8		ENST00000355280.6:c.509-1G>A	17.37:g.4788779G>A						MINK1_ENST00000453408.3_Splice_Site_p.V170_splice|MINK1_ENST00000347992.7_Splice_Site_p.V170_splice	p.V170_splice	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN			7	706	+			170			Protein kinase.			Splice_Site	SNP	ENST00000355280.6	37	c.508_splice	CCDS45588.1																																																																																				0.592	MINK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439801.1	NM_015716	Silent	7	89	0	0	0	1	0	7	89				
MASP2	10747	broad.mit.edu	37	1	11090928	11090928	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:11090928C>T	ENST00000400897.3	-	9	1114	c.1099G>A	c.(1099-1101)Ggc>Agc	p.G367S	RP4-635E18.8_ENST00000607145.1_RNA	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	367	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		TCAGGAGGGCCACAGTCAACA	0.498																																					GBM(35;611 746 20780 22741 36496)	ENST00000400897.3																			0				biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(1099-1101)Ggc>Agc		mannan-binding lectin serine peptidase 2							78.0	65.0	69.0					1																	11090928		2203	4300	6503	SO:0001583	missense	10747				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity	g.chr1:11090928C>T	X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"""mannan-binding lectin serine protease 2"", ""mannan-binding lectin serine peptidase 1 pseudogene 1"", ""mannan-binding lectin serine protease 1 pseudogene 1"""	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.1099G>A	1.37:g.11090928C>T	ENSP00000383690:p.Gly367Ser						p.G367S	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	9	1114	-	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	367			Sushi 2.		A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Missense_Mutation	SNP	ENST00000400897.3	37	c.1099G>A	CCDS123.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.208213	0.79240	.	.	ENSG00000009724	ENST00000400897	T	0.64618	-0.11	5.38	5.38	0.77491	Complement control module (2);Sushi/SCR/CCP (3);	0.139535	0.47455	D	0.000238	T	0.78892	0.4355	M	0.89840	3.065	0.80722	D	1	D	0.54397	0.966	P	0.58013	0.831	T	0.82973	-0.0191	10	0.72032	D	0.01	.	12.146	0.54024	0.0:0.921:0.0:0.079	.	367	O00187	MASP2_HUMAN	S	367	ENSP00000383690:G367S	ENSP00000383690:G367S	G	-	1	0	MASP2	11013515	0.971000	0.33674	1.000000	0.80357	0.781000	0.44180	3.262000	0.51538	2.518000	0.84900	0.561000	0.74099	GGC		0.498	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006072.1	NM_006610		11	33	0	0	0	1	0	11	33				
IWS1	55677	broad.mit.edu	37	2	128261070	128261070	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:128261070C>A	ENST00000295321.4	-	4	1561	c.1302G>T	c.(1300-1302)aaG>aaT	p.K434N	IWS1_ENST00000455721.2_Missense_Mutation_p.K441N|IWS1_ENST00000486662.1_5'Flank|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	434	Glu-rich.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		ATGCTATGGTCTTCTCTCTTT	0.428																																						ENST00000295321.4																			0				cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(1300-1302)aaG>aaT		IWS1 homolog (S. cerevisiae)							158.0	139.0	145.0					2																	128261070		2203	4300	6503	SO:0001583	missense	55677				transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128261070C>A	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.1302G>T	2.37:g.128261070C>A	ENSP00000295321:p.Lys434Asn					IWS1_ENST00000455721.2_Missense_Mutation_p.K441N|AC010976.2_ENST00000599001.1_RNA	p.K434N	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	4	1561	-	Colorectal(110;0.1)		434			Glu-rich.		Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Missense_Mutation	SNP	ENST00000295321.4	37	c.1302G>T	CCDS2146.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.054013	0.36277	.	.	ENSG00000163166	ENST00000295321;ENST00000433551;ENST00000455721	T;T	0.48201	2.29;0.82	5.34	3.5	0.40072	.	0.174753	0.47455	D	0.000223	T	0.43853	0.1266	M	0.61703	1.905	0.39331	D	0.965412	P	0.42785	0.79	B	0.42959	0.403	T	0.36672	-0.9738	10	0.29301	T	0.29	-15.4701	7.8932	0.29691	0.0:0.7193:0.0:0.2807	.	434	Q96ST2	IWS1_HUMAN	N	434;387;441	ENSP00000295321:K434N;ENSP00000399245:K441N	ENSP00000295321:K434N	K	-	3	2	IWS1	127977540	0.990000	0.36364	0.964000	0.40570	0.370000	0.29829	1.758000	0.38410	1.221000	0.43506	0.561000	0.74099	AAG		0.428	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		47	72	1	0	1.06522e-23	1	1.30016e-23	47	72				
PAPD7	11044	broad.mit.edu	37	5	6737711	6737711	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:6737711G>A	ENST00000230859.6	+	2	184	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	249					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)	p.E19K(1)		cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GAAACGGATCGAAACTGTGGT	0.433																																					NSCLC(7;212 333 5667 23379 46547)	ENST00000230859.6																			1	Substitution - Missense(1)	p.E19K(1)	large_intestine(1)	cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(55-57)Gaa>Aaa		PAP associated domain containing 7							244.0	192.0	210.0					5																	6737711		2203	4300	6503	SO:0001583	missense	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6737711G>A	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.55G>A	5.37:g.6737711G>A	ENSP00000230859:p.Glu19Lys						p.E19K	NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN			2	184	+			19					A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Missense_Mutation	SNP	ENST00000230859.6	37	c.55G>A	CCDS3871.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.631366	0.87660	.	.	ENSG00000112941	ENST00000230859;ENST00000515721	T	0.47177	0.85	5.05	5.05	0.67936	Nucleotidyl transferase domain (1);	0.000000	0.85682	D	0.000000	T	0.41696	0.1170	L	0.28740	0.885	0.80722	D	1	P;P	0.51537	0.946;0.891	B;B	0.43331	0.416;0.416	T	0.34551	-0.9824	10	0.40728	T	0.16	-10.7623	18.4239	0.90602	0.0:0.0:1.0:0.0	.	19;19	B7ZLL4;Q5XG87	.;PAPD7_HUMAN	K	19	ENSP00000230859:E19K	ENSP00000230859:E19K	E	+	1	0	PAPD7	6790711	1.000000	0.71417	0.998000	0.56505	0.872000	0.50106	8.832000	0.92079	2.346000	0.79739	0.484000	0.47621	GAA		0.433	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		26	34	0	0	0	1	0	26	34				
CTIF	9811	broad.mit.edu	37	18	46385823	46385823	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr18:46385823C>T	ENST00000256413.3	+	12	1985	c.1690C>T	c.(1690-1692)Cgg>Tgg	p.R564W	CTIF_ENST00000382998.4_Missense_Mutation_p.R566W	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	564	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						CATGCTGACCCGGTCGCTGCT	0.602																																						ENST00000256413.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(1690-1692)Cgg>Tgg		CBP80/20-dependent translation initiation factor							87.0	80.0	82.0					18																	46385823		2203	4300	6503	SO:0001583	missense	9811				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding	g.chr18:46385823C>T	AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"""KIAA0427"""	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.1690C>T	18.37:g.46385823C>T	ENSP00000256413:p.Arg564Trp					CTIF_ENST00000382998.4_Missense_Mutation_p.R566W	p.R564W	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN			12	1985	+			564			MIF4G.		B3KTR8|Q8IVD5	Missense_Mutation	SNP	ENST00000256413.3	37	c.1690C>T	CCDS11935.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422905	0.83559	.	.	ENSG00000134030	ENST00000256413;ENST00000382998;ENST00000420275	T;T	0.30714	1.52;1.52	5.07	4.16	0.48862	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.52289	0.1725	M	0.68593	2.085	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.56141	-0.8028	10	0.87932	D	0	-22.5623	13.3653	0.60680	0.2747:0.7253:0.0:0.0	.	566;564	O43310-2;O43310	.;CTIF_HUMAN	W	564;566;516	ENSP00000256413:R564W;ENSP00000372459:R566W	ENSP00000256413:R564W	R	+	1	2	CTIF	44639821	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.927000	0.63440	2.382000	0.81193	0.561000	0.74099	CGG		0.602	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255907.1	NM_014772		23	82	0	0	0	1	0	23	82				
MALAT1	378938	broad.mit.edu	37	11	65272474	65272474	+	lincRNA	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:65272474C>T	ENST00000534336.1	+	0	7242					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		CACCAGTGGACAAAATGAGGA	0.368																																						ENST00000534336.1																			0																				35.0	36.0	36.0					11																	65272474		874	1988	2862			378938							g.chr11:65272474C>T	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65272474C>T								NR_002819.2						0	7242	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.368	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		8	26	0	0	0	1	0	8	26				
SGSM3	27352	broad.mit.edu	37	22	40802507	40802507	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr22:40802507G>A	ENST00000248929.9	+	10	1215	c.1026G>A	c.(1024-1026)tcG>tcA	p.S342S	SGSM3_ENST00000454798.2_Silent_p.S275S	NM_015705.4	NP_056520.2			small G protein signaling modulator 3											cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						ATATCCCGTCGCAGATGGAGG	0.642																																						ENST00000248929.9																			0				cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						c.(1024-1026)tcG>tcA		small G protein signaling modulator 3							43.0	36.0	39.0					22																	40802507		2203	4300	6503	SO:0001819	synonymous_variant	27352				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding	g.chr22:40802507G>A	AL022238	CCDS14002.1	22q13.1-q13.2	2013-07-09	2007-08-14	2007-08-14	ENSG00000100359	ENSG00000100359		"""Small G protein signaling modulators"""	25228	protein-coding gene	gene with protein product	"""RUN and SH3 containing 3"""	610440	"""RUN and TBC1 domain containing 3"""	RUTBC3		11214971, 17509819	Standard	XM_005261572		Approved	DJ1042K10.2, RUSC3, RabGAP-5, RABGAP5	uc003ayu.1	Q96HU1	OTTHUMG00000151141	ENST00000248929.9:c.1026G>A	22.37:g.40802507G>A						SGSM3_ENST00000454798.2_Silent_p.S275S	p.S342S	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN			10	1215	+			342						Silent	SNP	ENST00000248929.9	37	c.1026G>A	CCDS14002.1																																																																																				0.642	SGSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321504.2	NM_015705		11	28	0	0	0	1	0	11	28				
KRI1	65095	broad.mit.edu	37	19	10673446	10673446	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:10673446G>A	ENST00000312962.6	-	4	379	c.360C>T	c.(358-360)taC>taT	p.Y120Y	KRI1_ENST00000361821.5_Silent_p.Y116Y|KRI1_ENST00000537964.1_Intron	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	114	Glu-rich.					nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			AGTCCTTCAGGTACATGGGCC	0.562																																						ENST00000312962.6																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(358-360)taC>taT		KRI1 homolog (S. cerevisiae)							289.0	238.0	255.0					19																	10673446		2203	4300	6503	SO:0001819	synonymous_variant	65095							g.chr19:10673446G>A		CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.360C>T	19.37:g.10673446G>A						KRI1_ENST00000361821.5_Silent_p.Y116Y|KRI1_ENST00000537964.1_Intron	p.Y120Y	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		4	379	-			120			Glu-rich.		Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Silent	SNP	ENST00000312962.6	37	c.360C>T	CCDS12242.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.345782	0.24426	.	.	ENSG00000129347	ENST00000543682	.	.	.	4.42	2.28	0.28536	.	.	.	.	.	T	0.58163	0.2103	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51124	-0.8745	4	.	.	.	-12.7175	9.3228	0.37975	0.1816:0.0:0.8184:0.0	.	.	.	.	I	58	.	.	T	-	2	0	KRI1	10534446	1.000000	0.71417	0.991000	0.47740	0.921000	0.55340	2.884000	0.48562	0.331000	0.23511	0.449000	0.29647	ACC		0.562	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1	NM_023008		45	137	0	0	0	1	0	45	137				
LRP2	4036	broad.mit.edu	37	2	170031767	170031767	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:170031767C>T	ENST00000263816.3	-	55	10989	c.10704G>A	c.(10702-10704)ccG>ccA	p.P3568P	LRP2_ENST00000461418.1_5'Flank	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3568	LDL-receptor class A 27. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ATAAAGTCTGCGGGCTGGTGC	0.527																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(10702-10704)ccG>ccA		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						75.0	76.0	75.0					2																	170031767		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170031767C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.10704G>A	2.37:g.170031767C>T							p.P3568P	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	55	10989	-			3568			LDL-receptor class A 27.		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.10704G>A	CCDS2232.1																																																																																				0.527	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		8	84	0	0	0	1	0	8	84				
GPR133	283383	broad.mit.edu	37	12	131476934	131476934	+	Silent	SNP	C	C	A	rs200693315		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:131476934C>A	ENST00000261654.5	+	8	1522	c.963C>A	c.(961-963)acC>acA	p.T321T	RP11-76C10.5_ENST00000542980.1_lincRNA|GPR133_ENST00000535015.1_Silent_p.T353T	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	321					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TGAATCTCACCAAGGTAAGGC	0.483																																						ENST00000261654.5																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(961-963)acC>acA		G protein-coupled receptor 133							104.0	98.0	100.0					12																	131476934		2203	4300	6503	SO:0001819	synonymous_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131476934C>A	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.963C>A	12.37:g.131476934C>A						GPR133_ENST00000535015.1_Silent_p.T353T|RP11-76C10.5_ENST00000542980.1_lincRNA	p.T321T	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	8	1522	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		321					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	c.963C>A	CCDS9272.1																																																																																				0.483	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		18	136	1	0	3.32936e-07	1	3.62856e-07	18	136				
KCNAB2	8514	broad.mit.edu	37	1	6101896	6101896	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:6101896G>T	ENST00000164247.1	+	3	647	c.83G>T	c.(82-84)cGg>cTg	p.R28L	KCNAB2_ENST00000341524.1_Missense_Mutation_p.R28L|KCNAB2_ENST00000378092.1_Intron|KCNAB2_ENST00000378097.1_Missense_Mutation_p.R28L|KCNAB2_ENST00000378111.1_Missense_Mutation_p.R28L|KCNAB2_ENST00000602612.1_Missense_Mutation_p.R28L|KCNAB2_ENST00000352527.1_Intron|AL035406.1_ENST00000594544.1_5'Flank|KCNAB2_ENST00000378087.3_Missense_Mutation_p.R28L	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	28					hematopoietic progenitor cell differentiation (GO:0002244)|protein heterooligomerization (GO:0051291)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		CGAAGTACTCGGTATGGGAGT	0.517											OREG0013028	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000164247.1																			0				large_intestine(1)|lung(4)|skin(3)	8						c.(82-84)cGg>cTg		potassium voltage-gated channel, shaker-related subfamily, beta member 2							86.0	88.0	88.0					1																	6101896		2203	4300	6503	SO:0001583	missense	8514					cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr1:6101896G>T	U33429	CCDS55.1, CCDS56.1, CCDS55570.1, CCDS55571.1	1p36.3	2008-02-05			ENSG00000069424	ENSG00000069424		"""Potassium channels"", ""Aldo-keto reductases"""	6229	protein-coding gene	gene with protein product		601142				8838324	Standard	NM_003636		Approved	AKR6A5, KCNA2B, HKvbeta2.1, HKvbeta2.2	uc001aly.2	Q13303	OTTHUMG00000000795	ENST00000164247.1:c.83G>T	1.37:g.6101896G>T	ENSP00000164247:p.Arg28Leu		OREG0013028	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	631	KCNAB2_ENST00000378097.1_Missense_Mutation_p.R28L|KCNAB2_ENST00000602612.1_Missense_Mutation_p.R28L|KCNAB2_ENST00000378111.1_Missense_Mutation_p.R28L|KCNAB2_ENST00000378087.3_Missense_Mutation_p.R28L|KCNAB2_ENST00000352527.1_Intron|KCNAB2_ENST00000341524.1_Missense_Mutation_p.R28L|KCNAB2_ENST00000378092.1_Intron	p.R28L	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)	3	647	+	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)	28					A0AVM9|A8K1A4|B0AZR7|O43659|Q5TG82|Q5TG83|Q6ZNE4|Q99411	Missense_Mutation	SNP	ENST00000164247.1	37	c.83G>T	CCDS55.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.901134	0.72754	.	.	ENSG00000069424	ENST00000378111;ENST00000378097;ENST00000445501;ENST00000389632;ENST00000378087;ENST00000341524;ENST00000164247	T;T;T;T;T;T	0.51325	0.74;0.96;0.96;0.71;0.96;0.96	4.84	4.84	0.62591	.	.	.	.	.	T	0.31857	0.0810	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.15093	-1.0449	9	0.66056	D	0.02	.	16.9375	0.86207	0.0:0.0:1.0:0.0	.	28;28	Q13303;Q2YD85	KCAB2_HUMAN;.	L	28	ENSP00000367351:R28L;ENSP00000367337:R28L;ENSP00000374283:R28L;ENSP00000367327:R28L;ENSP00000340824:R28L;ENSP00000164247:R28L	ENSP00000164247:R28L	R	+	2	0	KCNAB2	6024483	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.144000	0.89623	2.249000	0.74217	0.467000	0.42956	CGG		0.517	KCNAB2-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000002114.3	NM_172130		34	106	1	0	4.3949e-29	1	5.44585e-29	34	106				
PARD3B	117583	broad.mit.edu	37	2	205829956	205829956	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:205829956G>T	ENST00000406610.2	+	3	511	c.304G>T	c.(304-306)Gat>Tat	p.D102Y	PARD3B_ENST00000351153.1_Missense_Mutation_p.D102Y|PARD3B_ENST00000349953.3_Missense_Mutation_p.D102Y|PARD3B_ENST00000462231.1_Missense_Mutation_p.D102Y|PARD3B_ENST00000358768.2_Missense_Mutation_p.D102Y	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	102					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GCAGAGCCCAGATGCTTTTGA	0.478																																						ENST00000406610.2																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(304-306)Gat>Tat		par-3 family cell polarity regulator beta							84.0	86.0	86.0					2																	205829956		1858	4099	5957	SO:0001583	missense	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:205829956G>T	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.304G>T	2.37:g.205829956G>T	ENSP00000385848:p.Asp102Tyr					PARD3B_ENST00000462231.1_Missense_Mutation_p.D102Y|PARD3B_ENST00000349953.3_Missense_Mutation_p.D102Y|PARD3B_ENST00000351153.1_Missense_Mutation_p.D102Y|PARD3B_ENST00000358768.2_Missense_Mutation_p.D102Y	p.D102Y	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	3	511	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	102					E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37	c.304G>T		.	.	.	.	.	.	.	.	.	.	G	19.59	3.855972	0.71834	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.61	4.72	0.59763	.	0.112925	0.56097	D	0.000028	T	0.68357	0.2992	M	0.71036	2.16	0.39107	D	0.96139	D;D;D;D;D	0.89917	1.0;1.0;0.997;1.0;0.999	D;D;D;D;D	0.97110	0.999;1.0;0.958;0.994;0.969	T	0.74763	-0.3555	10	0.72032	D	0.01	.	16.3187	0.82938	0.0:0.1325:0.8675:0.0	.	102;102;102;102;102	Q8TEW8-3;Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	.;PAR3L_HUMAN;.;.;.	Y	102	ENSP00000385848:D102Y;ENSP00000351618:D102Y;ENSP00000317261:D102Y;ENSP00000340280:D102Y	ENSP00000340280:D102Y	D	+	1	0	PARD3B	205538201	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.060000	0.64312	1.324000	0.45282	0.563000	0.77884	GAT		0.478	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		19	49	1	0	9.95505e-16	1	1.1896e-15	19	49				
SETX	23064	broad.mit.edu	37	9	135210036	135210036	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:135210036A>T	ENST00000224140.5	-	7	979	c.797T>A	c.(796-798)tTt>tAt	p.F266Y	SETX_ENST00000393220.1_Missense_Mutation_p.F266Y|SETX_ENST00000372169.2_Missense_Mutation_p.F266Y	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	266					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CGATTGCATAAAATCATTTTG	0.363																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(796-798)tTt>tAt		senataxin							174.0	143.0	153.0					9																	135210036		2203	4300	6503	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135210036A>T	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.797T>A	9.37:g.135210036A>T	ENSP00000224140:p.Phe266Tyr					SETX_ENST00000393220.1_Missense_Mutation_p.F266Y|SETX_ENST00000224140.5_Missense_Mutation_p.F266Y	p.F266Y			Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	7	979	-		Myeloproliferative disorder(178;0.204)	266					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.797T>A	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.540686	0.85917	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	T;T;T	0.60424	0.19;0.19;0.19	5.91	5.91	0.95273	.	0.064498	0.64402	D	0.000007	T	0.66499	0.2795	L	0.29908	0.895	0.35852	D	0.826874	D	0.76494	0.999	D	0.80764	0.994	T	0.75382	-0.3337	10	0.87932	D	0	.	15.5243	0.75890	1.0:0.0:0.0:0.0	.	266	Q7Z333	SETX_HUMAN	Y	266	ENSP00000224140:F266Y;ENSP00000361242:F266Y;ENSP00000376913:F266Y	ENSP00000224140:F266Y	F	-	2	0	SETX	134199857	1.000000	0.71417	0.998000	0.56505	0.788000	0.44548	6.778000	0.75043	2.263000	0.75096	0.377000	0.23210	TTT		0.363	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		22	42	0	0	0	1	0	22	42				
BRIP1	83990	broad.mit.edu	37	17	59885956	59885956	+	Missense_Mutation	SNP	G	G	A	rs28997569	byFrequency	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:59885956G>A	ENST00000259008.2	-	7	1057	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W	BRIP1_ENST00000577598.1_Missense_Mutation_p.R264W	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	264	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.		R -> W (rare polymorphism; dbSNP:rs28997569). {ECO:0000269|PubMed:16116423}.		DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						GCCGTCCTCCGGAGCTCTCTA	0.433			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					G|||	7	0.00139776	0.0053	0.0	5008	,	,		15253	0.0		0.0	False		,,,				2504	0.0					ENST00000259008.2			yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	"""F, N, Mis"""	BRCA1 interacting protein C-terminal helicase 1			"""L, E"""		"""AML, leukemia, breast"""			0				NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						c.(790-792)Cgg>Tgg	Involved in tolerance or repair of DNA crosslinks	BRCA1 interacting protein C-terminal helicase 1		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	135.0	121.0	126.0		790	5.3	1.0	17	dbSNP_125	126	11,8589	8.4+/-32.0	0,11,4289	yes	missense	BRIP1	NM_032043.2	101	0,12,6491	AA,AG,GG		0.1279,0.0227,0.0923	probably-damaging	264/1250	59885956	12,12994	2203	4300	6503	SO:0001583	missense	83990				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59885956G>A	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.790C>T	17.37:g.59885956G>A	ENSP00000259008:p.Arg264Trp					BRIP1_ENST00000577598.1_Missense_Mutation_p.R264W	p.R264W	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN			7	1057	-			264		R -> W (rare polymorphism; dbSNP:rs28997569).	Helicase ATP-binding.		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	c.790C>T	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201233	0.58234	2.27E-4	0.001279	ENSG00000136492	ENST00000259008	T	0.72942	-0.7	5.29	5.29	0.74685	DEAD-like helicase (1);DEAD2 (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.250038	0.39909	N	0.001238	D	0.83876	0.5349	M	0.85777	2.775	0.30217	N	0.797158	D	0.89917	1.0	D	0.64595	0.927	T	0.83303	-0.0027	9	.	.	.	-2.6181	13.9116	0.63871	0.0:0.0:0.8381:0.1618	rs28997569	264	Q9BX63	FANCJ_HUMAN	W	264	ENSP00000259008:R264W	.	R	-	1	2	BRIP1	57240738	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.626000	0.54245	2.632000	0.89209	0.579000	0.79373	CGG		0.433	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		33	109	0	0	0	1	0	33	109				
DPYSL5	56896	broad.mit.edu	37	2	27121417	27121417	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:27121417T>C	ENST00000288699.6	+	2	208	c.50T>C	c.(49-51)gTg>gCg	p.V17A	DPYSL5_ENST00000401478.1_Missense_Mutation_p.V17A	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	17					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGGCAAGGTGGTGAACGAT	0.567																																						ENST00000288699.6																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(49-51)gTg>gCg		dihydropyrimidinase-like 5							201.0	173.0	183.0					2																	27121417		2203	4300	6503	SO:0001583	missense	56896				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr2:27121417T>C	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.50T>C	2.37:g.27121417T>C	ENSP00000288699:p.Val17Ala					DPYSL5_ENST00000401478.1_Missense_Mutation_p.V17A	p.V17A	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN			2	208	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		17					Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	ENST00000288699.6	37	c.50T>C	CCDS1730.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.529953	0.85706	.	.	ENSG00000157851	ENST00000450961;ENST00000288699;ENST00000401478;ENST00000431402;ENST00000434719	D;D;D;D;D	0.90069	-1.83;-2.61;-2.61;-1.85;-1.82	4.61	4.61	0.57282	Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.93426	0.7903	M	0.75777	2.31	0.48632	D	0.999683	D	0.61080	0.989	D	0.70227	0.968	D	0.94134	0.7391	10	0.87932	D	0	-19.6524	13.2923	0.60278	0.0:0.0:0.0:1.0	.	17	Q9BPU6	DPYL5_HUMAN	A	17	ENSP00000407174:V17A;ENSP00000288699:V17A;ENSP00000385549:V17A;ENSP00000399581:V17A;ENSP00000413075:V17A	ENSP00000288699:V17A	V	+	2	0	DPYSL5	26974921	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.555000	0.82223	1.854000	0.53819	0.459000	0.35465	GTG		0.567	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134		15	158	0	0	0	1	0	15	158				
STC2	8614	broad.mit.edu	37	5	172745210	172745210	+	Missense_Mutation	SNP	C	C	A	rs368174524		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:172745210C>A	ENST00000265087.4	-	4	1858	c.549G>T	c.(547-549)gaG>gaT	p.E183D	STC2_ENST00000520593.1_5'UTR	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	183					cellular calcium ion homeostasis (GO:0006874)|cellular response to hypoxia (GO:0071456)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|regulation of hormone biosynthetic process (GO:0046885)|regulation of store-operated calcium entry (GO:2001256)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CCTTCACCTCCTCCCCACAGG	0.557																																						ENST00000265087.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25						c.(547-549)gaG>gaT		stanniocalcin 2							51.0	41.0	44.0					5																	172745210		2203	4300	6503	SO:0001583	missense	8614				cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity	g.chr5:172745210C>A	AB012664	CCDS4388.1	5q35.2	2004-05-17			ENSG00000113739	ENSG00000113739			11374	protein-coding gene	gene with protein product		603665				9723890, 9753616	Standard	NM_003714		Approved	STC-2	uc003mco.1	O76061	OTTHUMG00000130542	ENST00000265087.4:c.549G>T	5.37:g.172745210C>A	ENSP00000265087:p.Glu183Asp					STC2_ENST00000520593.1_5'UTR	p.E183D	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		4	1858	-	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	183						Missense_Mutation	SNP	ENST00000265087.4	37	c.549G>T	CCDS4388.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951712	0.73787	.	.	ENSG00000113739	ENST00000265087	.	.	.	5.4	2.1	0.27182	.	0.049414	0.85682	D	0.000000	T	0.55561	0.1928	M	0.62723	1.935	0.44668	D	0.997652	P	0.43431	0.807	P	0.46543	0.52	T	0.53906	-0.8372	9	0.54805	T	0.06	-23.6617	6.2243	0.20700	0.0:0.5635:0.1412:0.2953	.	183	O76061	STC2_HUMAN	D	183	.	ENSP00000265087:E183D	E	-	3	2	STC2	172677816	0.980000	0.34600	1.000000	0.80357	0.998000	0.95712	0.254000	0.18314	0.621000	0.30232	0.650000	0.86243	GAG		0.557	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252965.1	NM_003714		23	4	1	0	5.45024e-15	1	6.4587e-15	23	4				
ZNF480	147657	broad.mit.edu	37	19	52825659	52825659	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:52825659C>A	ENST00000595962.1	+	5	1222	c.1156C>A	c.(1156-1158)Cta>Ata	p.L386I	ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000335090.6_Missense_Mutation_p.L309I|ZNF480_ENST00000334564.7_Missense_Mutation_p.L343I|CTD-2525I3.6_ENST00000594379.1_RNA	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	386					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		AAATTCGCACCTAGCACAACA	0.358																																						ENST00000595962.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(1156-1158)Cta>Ata		zinc finger protein 480							62.0	67.0	65.0					19																	52825659		2203	4300	6503	SO:0001583	missense	147657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:52825659C>A	AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"""Zinc fingers, C2H2-type"", ""-"""	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.1156C>A	19.37:g.52825659C>A	ENSP00000471754:p.Leu386Ile					CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000335090.6_Missense_Mutation_p.L309I|ZNF480_ENST00000334564.7_Missense_Mutation_p.L343I	p.L386I	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN		GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)	5	1222	+			386					Q5JPG9|Q6P0Q4|Q8N1M5	Missense_Mutation	SNP	ENST00000595962.1	37	c.1156C>A	CCDS12850.2	.	.	.	.	.	.	.	.	.	.	C	12.55	1.970793	0.34754	.	.	ENSG00000198464	ENST00000468240;ENST00000334564;ENST00000335090	T;T;T	0.53857	0.6;0.6;0.6	2.21	2.21	0.28008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.73961	0.3654	M	0.91663	3.23	0.09310	N	1	D;D	0.69078	0.997;0.997	D;D	0.91635	0.972;0.999	T	0.59830	-0.7380	9	0.72032	D	0.01	.	6.8217	0.23861	0.0:0.8467:0.0:0.1533	.	343;386	F8WEZ9;Q8WV37	.;ZN480_HUMAN	I	386;343;309	ENSP00000417424:L386I;ENSP00000334164:L343I;ENSP00000335670:L309I	ENSP00000334164:L343I	L	+	1	2	ZNF480	57517471	0.300000	0.24435	0.003000	0.11579	0.009000	0.06853	0.748000	0.26305	1.225000	0.43566	0.461000	0.40582	CTA		0.358	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	NM_144684		20	78	1	0	1.01871e-10	1	1.16834e-10	20	78				
WBP11	51729	broad.mit.edu	37	12	14947541	14947541	+	Silent	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:14947541A>G	ENST00000261167.2	-	7	884	c.651T>C	c.(649-651)cgT>cgC	p.R217R		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	217	Interaction with PP1. {ECO:0000250}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						AACCCACTTTACGGCCATACA	0.507																																						ENST00000261167.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						c.(649-651)cgT>cgC		WW domain binding protein 11							171.0	179.0	176.0					12																	14947541		2203	4300	6503	SO:0001819	synonymous_variant	51729				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	g.chr12:14947541A>G	AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"""splicing factor, PQBP1 and PP1 interacting"", ""protein phosphatase 1, regulatory subunit 165"""					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.651T>C	12.37:g.14947541A>G						WBP11_ENST00000537574.1_Silent_p.R217R	p.R217R	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN			7	884	-			217			Interaction with PP1 (By similarity).		Q96AY8	Silent	SNP	ENST00000261167.2	37	c.651T>C	CCDS8666.1																																																																																				0.507	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312		60	245	0	0	0	1	0	60	245				
ASCC3	10973	broad.mit.edu	37	6	101215218	101215218	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:101215218C>T	ENST00000369162.2	-	9	1743	c.1399G>A	c.(1399-1401)Gga>Aga	p.G467R	ASCC3_ENST00000522650.1_Missense_Mutation_p.G467R	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	467					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)	p.G467*(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GCCAGCTGTCCGATCTAAAAA	0.348																																						ENST00000369162.2																			1	Substitution - Nonsense(1)	p.G467*(1)	lung(1)	breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92						c.(1399-1401)Gga>Aga		activating signal cointegrator 1 complex subunit 3							91.0	88.0	89.0					6																	101215218		2202	4300	6502	SO:0001583	missense	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101215218C>T	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.1399G>A	6.37:g.101215218C>T	ENSP00000358159:p.Gly467Arg					ASCC3_ENST00000522650.1_Missense_Mutation_p.G467R	p.G467R	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	9	1743	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	467					E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.1399G>A	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389678	0.82902	.	.	ENSG00000112249	ENST00000369162;ENST00000522650	T;T	0.34859	1.34;1.34	5.25	5.25	0.73442	.	0.059087	0.64402	D	0.000002	T	0.50154	0.1599	M	0.65320	2	0.80722	D	1	B;D	0.71674	0.407;0.998	B;P	0.62885	0.031;0.908	T	0.52902	-0.8513	10	0.87932	D	0	.	19.1933	0.93675	0.0:1.0:0.0:0.0	.	467;467	E7EW23;Q8N3C0	.;HELC1_HUMAN	R	467	ENSP00000358159:G467R;ENSP00000430769:G467R	ENSP00000358159:G467R	G	-	1	0	ASCC3	101321939	1.000000	0.71417	0.999000	0.59377	0.806000	0.45545	7.445000	0.80570	2.626000	0.88956	0.591000	0.81541	GGA		0.348	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		53	61	0	0	0	1	0	53	61				
RCE1	9986	broad.mit.edu	37	11	66613501	66613501	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:66613501G>A	ENST00000309657.3	+	8	969	c.925G>A	c.(925-927)Ggc>Agc	p.G309S	RCE1_ENST00000525356.1_Missense_Mutation_p.G186S|PC_ENST00000528224.1_5'Flank|RCE1_ENST00000524506.1_Missense_Mutation_p.G288S	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	309					CAAX-box protein processing (GO:0071586)|proteolysis (GO:0006508)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|metalloendopeptidase activity (GO:0004222)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						CAAGCTCTACGGCAGCCTTCC	0.632																																						ENST00000309657.3																			0				breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						c.(925-927)Ggc>Agc		Ras converting CAAX endopeptidase 1							70.0	75.0	74.0					11																	66613501		2200	4295	6495	SO:0001583	missense	9986				proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity	g.chr11:66613501G>A	AF121951	CCDS8151.1	11q13	2013-10-18	2013-10-18	2001-06-29	ENSG00000173653	ENSG00000173653			13721	protein-coding gene	gene with protein product	"""farnesylated protein-converting enzyme 2"", ""prenyl protein-specific endoprotease 2"", ""RCE1 homolog, prenyl protein protease"", ""CAAX prenyl protease 2"""	605385	"""RCE1 (S. Cerevisiae) homolog, prenyl protein protease"", ""RCE1 homolog, prenyl protein peptidase (S. cerevisiae)"", ""RCE1 homolog, prenyl protein protease (S. cerevisiae)"""	RCE1A, RCE1B		10085068, 10373325	Standard	NM_005133		Approved	hRCE1, FACE-2, FACE2	uc001ojk.1	Q9Y256	OTTHUMG00000167098	ENST00000309657.3:c.925G>A	11.37:g.66613501G>A	ENSP00000309163:p.Gly309Ser					RCE1_ENST00000524506.1_Missense_Mutation_p.G288S|RCE1_ENST00000525356.1_Missense_Mutation_p.G186S	p.G309S	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN			8	969	+			309					Q52LZ9	Missense_Mutation	SNP	ENST00000309657.3	37	c.925G>A	CCDS8151.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.956259	0.53293	.	.	ENSG00000173653	ENST00000309657;ENST00000524506;ENST00000525356	.	.	.	5.57	4.46	0.54185	.	0.199102	0.41396	D	0.000899	T	0.40839	0.1133	N	0.21448	0.665	0.42466	D	0.992803	B	0.23490	0.086	B	0.11329	0.006	T	0.25222	-1.0138	9	0.25751	T	0.34	-16.0657	12.583	0.56401	0.0946:0.0:0.9054:0.0	.	309	Q9Y256	FACE2_HUMAN	S	309;288;186	.	ENSP00000309163:G309S	G	+	1	0	RCE1	66370077	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.973000	0.63763	2.618000	0.88619	0.655000	0.94253	GGC		0.632	RCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393105.1	NM_005133		31	96	0	0	0	1	0	31	96				
CDH7	1005	broad.mit.edu	37	18	63491964	63491964	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr18:63491964C>T	ENST00000397968.2	+	6	1304	c.878C>T	c.(877-879)gCt>gTt	p.A293V	CDH7_ENST00000323011.3_Missense_Mutation_p.A293V|CDH7_ENST00000536984.2_Missense_Mutation_p.A293V	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	293	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GATATTGGAGCTAATGCTGAA	0.403																																						ENST00000536984.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80						c.(877-879)gCt>gTt		cadherin 7, type 2							155.0	144.0	148.0					18																	63491964		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63491964C>T	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.878C>T	18.37:g.63491964C>T	ENSP00000381058:p.Ala293Val					CDH7_ENST00000323011.3_Missense_Mutation_p.A293V|CDH7_ENST00000397968.2_Missense_Mutation_p.A293V	p.A293V			Q9ULB5	CADH7_HUMAN			6	1572	+		Esophageal squamous(42;0.129)	293			Cadherin 3.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.878C>T	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750681	0.49257	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.52983	0.64;0.64;0.64	4.65	3.56	0.40772	Cadherin (4);Cadherin-like (1);	0.634033	0.15574	N	0.255267	T	0.23532	0.0569	N	0.03948	-0.315	0.25737	N	0.985204	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.15009	-1.0452	10	0.48119	T	0.1	.	7.7974	0.29156	0.0:0.7749:0.0:0.2251	.	293;293	F5H5X9;Q9ULB5	.;CADH7_HUMAN	V	293	ENSP00000319166:A293V;ENSP00000443030:A293V;ENSP00000381058:A293V	ENSP00000319166:A293V	A	+	2	0	CDH7	61642944	0.000000	0.05858	0.999000	0.59377	0.998000	0.95712	0.776000	0.26704	0.788000	0.33755	0.637000	0.83480	GCT		0.403	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		34	87	0	0	0	1	0	34	87				
CASKIN1	57524	broad.mit.edu	37	16	2231476	2231476	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:2231476G>A	ENST00000343516.6	-	18	1985	c.1893C>T	c.(1891-1893)atC>atT	p.I631I	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	631					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GCGGCGACTCGATGGCCATCA	0.647																																						ENST00000343516.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						c.(1891-1893)atC>atT		CASK interacting protein 1							15.0	21.0	19.0					16																	2231476		1983	4159	6142	SO:0001819	synonymous_variant	57524				signal transduction	cytoplasm		g.chr16:2231476G>A	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.1893C>T	16.37:g.2231476G>A							p.I631I	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN			18	1985	-			631					Q9P2P0	Silent	SNP	ENST00000343516.6	37	c.1893C>T	CCDS42103.1																																																																																				0.647	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		14	20	0	0	0	1	0	14	20				
TALDO1	6888	broad.mit.edu	37	11	763813	763813	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:763813G>A	ENST00000319006.3	+	6	857	c.704G>A	c.(703-705)gGc>gAc	p.G235D	TALDO1_ENST00000528097.1_Missense_Mutation_p.G235D			P37837	TALDO_HUMAN	transaldolase 1	235					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	monosaccharide binding (GO:0048029)|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity (GO:0004801)			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		ATTGTCATGGGCGCCTCCTTC	0.527																																						ENST00000319006.3																			0				breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14						c.(703-705)gGc>gAc		transaldolase 1							154.0	163.0	160.0					11																	763813		2203	4300	6503	SO:0001583	missense	6888				energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity	g.chr11:763813G>A		CCDS7712.1	11p15.5-p15.4	2009-12-02			ENSG00000177156	ENSG00000177156	2.2.1.2		11559	protein-coding gene	gene with protein product		602063				9339383	Standard	NM_006755		Approved		uc001lqz.3	P37837	OTTHUMG00000133318	ENST00000319006.3:c.704G>A	11.37:g.763813G>A	ENSP00000321259:p.Gly235Asp					TALDO1_ENST00000528097.1_Missense_Mutation_p.G235D	p.G235D			P37837	TALDO_HUMAN		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)	6	857	+		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	235					B2R8M2|O00751|Q8WV32|Q8WZ45	Missense_Mutation	SNP	ENST00000319006.3	37	c.704G>A	CCDS7712.1	.	.	.	.	.	.	.	.	.	.	G	32	5.145735	0.94603	.	.	ENSG00000177156	ENST00000319006;ENST00000528097	D;D	0.86694	-2.16;-2.16	4.9	4.9	0.64082	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.96457	0.8844	H	0.98721	4.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.98321	1.0528	10	0.87932	D	0	-2.2979	17.2424	0.87017	0.0:0.0:1.0:0.0	.	235;235	F2Z393;P37837	.;TALDO_HUMAN	D	235	ENSP00000321259:G235D;ENSP00000437098:G235D	ENSP00000321259:G235D	G	+	2	0	TALDO1	753813	1.000000	0.71417	0.989000	0.46669	0.980000	0.70556	9.241000	0.95402	2.441000	0.82636	0.561000	0.74099	GGC		0.527	TALDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257116.1	NM_006755		7	381	0	0	0	1	0	7	381				
MAP3K9	4293	broad.mit.edu	37	14	71197533	71197533	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:71197533C>T	ENST00000554752.2	-	12	2878	c.2879G>A	c.(2878-2880)cGt>cAt	p.R960H	MAP3K9_ENST00000554146.1_Missense_Mutation_p.R688H|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R937H|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R974H|MAP3K9_ENST00000553414.1_Missense_Mutation_p.R693H	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	960	Pro-rich.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GTCAGGGAGACGGGGGAATTC	0.552																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(2878-2880)cGt>cAt		mitogen-activated protein kinase kinase kinase 9							22.0	25.0	24.0					14																	71197533		2202	4295	6497	SO:0001583	missense	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71197533C>T	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.2879G>A	14.37:g.71197533C>T	ENSP00000451612:p.Arg960His					MAP3K9_ENST00000555993.2_Missense_Mutation_p.R974H|MAP3K9_ENST00000553414.1_Missense_Mutation_p.R693H|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R937H|MAP3K9_ENST00000554146.1_Missense_Mutation_p.R688H	p.R960H			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	12	2878	-			960			Pro-rich.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	ENST00000554752.2	37	c.2879G>A		.	.	.	.	.	.	.	.	.	.	C	18.87	3.715789	0.68844	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	T;T;T;T	0.76968	-1.04;-1.06;-1.0;-1.05	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.85270	0.5658	L	0.54323	1.7	0.58432	D	0.99999	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;P;D;D	0.76071	0.966;0.854;0.931;0.987	D	0.84493	0.0612	10	0.39692	T	0.17	.	17.8283	0.88673	0.0:1.0:0.0:0.0	.	688;960;974;693	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	H	960;974;693;937;688;676	ENSP00000451612:R960H;ENSP00000451038:R693H;ENSP00000370649:R937H;ENSP00000451921:R688H	ENSP00000005198:R974H	R	-	2	0	MAP3K9	70267286	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.490000	0.60319	2.455000	0.83008	0.561000	0.74099	CGT		0.552	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			16	15	0	0	0	1	0	16	15				
RNF17	56163	broad.mit.edu	37	13	25341481	25341481	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr13:25341481A>G	ENST00000255324.5	+	2	254	c.202A>G	c.(202-204)Aca>Gca	p.T68A	RNF17_ENST00000381921.1_Missense_Mutation_p.T68A|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000255325.6_Missense_Mutation_p.T68A	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	68					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AGAATGCACCACAATTATATG	0.303																																						ENST00000255324.5																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(202-204)Aca>Gca		ring finger protein 17							188.0	169.0	176.0					13																	25341481		2203	4300	6503	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25341481A>G	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.202A>G	13.37:g.25341481A>G	ENSP00000255324:p.Thr68Ala					RNF17_ENST00000381921.1_Missense_Mutation_p.T68A|RNF17_ENST00000255325.5_Missense_Mutation_p.T68A|RNF17_ENST00000255326.4_3'UTR	p.T68A	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	2	254	+		Lung SC(185;0.0225)|Breast(139;0.077)	68					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.202A>G	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	A	11.04	1.522246	0.27211	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000255325;ENST00000255326	D;D;D	0.85629	-2.01;-2.01;-2.01	4.56	3.33	0.38152	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.271781	0.26499	N	0.024032	T	0.76528	0.4000	L	0.32530	0.975	0.09310	N	1	B;B;P	0.43287	0.451;0.278;0.802	B;B;B	0.42495	0.112;0.084;0.389	T	0.65635	-0.6120	10	0.34782	T	0.22	.	7.0646	0.25145	0.7988:0.0:0.0:0.2012	.	68;68;68	B7Z7S1;Q9BXT8;Q9BXT8-2	.;RNF17_HUMAN;.	A	68	ENSP00000255324:T68A;ENSP00000371346:T68A;ENSP00000255325:T68A	ENSP00000255324:T68A	T	+	1	0	RNF17	24239481	0.723000	0.28027	0.030000	0.17652	0.853000	0.48598	1.963000	0.40452	0.715000	0.32103	0.477000	0.44152	ACA		0.303	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		52	45	0	0	0	1	0	52	45				
C12orf4	57102	broad.mit.edu	37	12	4645271	4645271	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:4645271C>T	ENST00000261250.3	-	2	177	c.90G>A	c.(88-90)gtG>gtA	p.V30V	RAD51AP1_ENST00000544927.1_5'Flank|RAD51AP1_ENST00000543041.1_5'Flank|RAD51AP1_ENST00000321524.7_5'Flank|C12orf4_ENST00000545746.1_Silent_p.V30V|RAD51AP1_ENST00000352618.4_5'Flank|RAD51AP1_ENST00000228843.9_5'Flank	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	30										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		ATTTGAGTGGCACTCTCAGTT	0.378																																						ENST00000261250.3																			0				NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13						c.(88-90)gtG>gtA		chromosome 12 open reading frame 4							121.0	114.0	116.0					12																	4645271		2203	4300	6503	SO:0001819	synonymous_variant	57102							g.chr12:4645271C>T	AJ272205	CCDS8528.1	12p13.3	2012-08-10			ENSG00000047621	ENSG00000047621			1184	protein-coding gene	gene with protein product							Standard	NM_020374		Approved		uc001qms.3	Q9NQ89	OTTHUMG00000168258	ENST00000261250.3:c.90G>A	12.37:g.4645271C>T						C12orf4_ENST00000545746.1_Silent_p.V30V	p.V30V	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)	2	177	-			30					D3DUQ8|Q6MZH5	Silent	SNP	ENST00000261250.3	37	c.90G>A	CCDS8528.1																																																																																				0.378	C12orf4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398992.1	NM_020374		5	105	0	0	0	1	0	5	105				
NFKBIB	4793	broad.mit.edu	37	19	39398083	39398083	+	Silent	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:39398083C>A	ENST00000313582.5	+	5	787	c.753C>A	c.(751-753)gcC>gcA	p.A251A	NFKBIB_ENST00000572515.1_Silent_p.A251A|NFKBIB_ENST00000392079.3_Silent_p.A219A	NM_002503.4	NP_002494.2	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	251					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|signal transduction (GO:0007165)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CAGTGGAGGCCCAGGCAGCCG	0.692																																					Pancreas(165;1492 2005 6979 7739 34483)	ENST00000392079.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8						c.(655-657)gcC>gcA		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta							33.0	37.0	36.0					19																	39398083		2197	4286	6483	SO:0001819	synonymous_variant	4793				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity	g.chr19:39398083C>A	L40407	CCDS12524.1, CCDS74362.1	19q13.1	2013-01-10				ENSG00000104825		"""Ankyrin repeat domain containing"""	7798	protein-coding gene	gene with protein product		604495				9763672	Standard	NM_002503		Approved	IKBB, TRIP9	uc002ojw.3	Q15653		ENST00000313582.5:c.753C>A	19.37:g.39398083C>A						NFKBIB_ENST00000572515.1_Silent_p.A251A|NFKBIB_ENST00000313582.5_Silent_p.A251A	p.A219A			Q15653	IKBB_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		5	755	+	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		251					A8K3F4|Q96BJ7	Silent	SNP	ENST00000313582.5	37	c.657C>A	CCDS12524.1																																																																																				0.692	NFKBIB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438155.1	NM_002503		54	75	1	0	6.20943e-19	1	7.49868e-19	54	75				
HCN1	348980	broad.mit.edu	37	5	45303767	45303767	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:45303767C>A	ENST00000303230.4	-	6	1609	c.1552G>T	c.(1552-1554)Ggt>Tgt	p.G518C		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	518					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.G518S(1)|p.G518C(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CCAGCAACACCGTGTTGAATG	0.388																																						ENST00000303230.4																			2	Substitution - Missense(2)	p.G518S(1)|p.G518C(1)	NS(1)|lung(1)	NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(1552-1554)Ggt>Tgt		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							105.0	101.0	102.0					5																	45303767		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45303767C>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1552G>T	5.37:g.45303767C>A	ENSP00000307342:p.Gly518Cys						p.G518C	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			6	1609	-			518						Missense_Mutation	SNP	ENST00000303230.4	37	c.1552G>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.847410	0.91277	.	.	ENSG00000164588	ENST00000303230	D	0.99960	-9.08	5.62	5.62	0.85841	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.64402	D	0.000002	D	0.99975	0.9992	H	0.99705	4.715	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97538	1.0084	10	0.87932	D	0	.	20.024	0.97514	0.0:1.0:0.0:0.0	.	518	O60741	HCN1_HUMAN	C	518	ENSP00000307342:G518C	ENSP00000307342:G518C	G	-	1	0	HCN1	45339524	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.776000	0.85560	2.809000	0.96659	0.655000	0.94253	GGT		0.388	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		33	115	1	0	1.22384e-17	1	1.47481e-17	33	115				
SORBS3	10174	broad.mit.edu	37	8	22432192	22432192	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:22432192G>T	ENST00000240123.7	+	21	2350	c.1967G>T	c.(1966-1968)aGg>aTg	p.R656M	SORBS3_ENST00000428103.1_Missense_Mutation_p.R314M	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	656	Binds to SOS.|SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|muscle contraction (GO:0006936)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of stress fiber assembly (GO:0051496)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)	p.R656M(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		GTCTCCCGGAGGACCCAGAAA	0.612											OREG0018613	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000240123.7																			1	Substitution - Missense(1)	p.R656M(1)	endometrium(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18						c.(1966-1968)aGg>aTg		sorbin and SH3 domain containing 3							141.0	140.0	141.0					8																	22432192		2203	4300	6503	SO:0001583	missense	10174				muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding	g.chr8:22432192G>T		CCDS6031.1	8p21.3	2008-02-05			ENSG00000120896	ENSG00000120896			30907	protein-coding gene	gene with protein product		610795				9885244, 12510380	Standard	NM_001018003		Approved	SCAM-1, SH3D4, vinexin	uc003xbv.3	O60504	OTTHUMG00000131728	ENST00000240123.7:c.1967G>T	8.37:g.22432192G>T	ENSP00000240123:p.Arg656Met		OREG0018613	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	756	SORBS3_ENST00000428103.1_Missense_Mutation_p.R314M	p.R656M	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	21	2350	+		Prostate(55;0.0421)|Breast(100;0.102)	656			Binds to SOS.|SH3 3.		Q5BJE4|Q6NX54|Q96FY4|Q9UQE4	Missense_Mutation	SNP	ENST00000240123.7	37	c.1967G>T	CCDS6031.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	31|31|31	5.070101|5.070101|5.070101	0.93950|0.93950|0.93950	.|.|.	.|.|.	ENSG00000120896|ENSG00000120896|ENSG00000120896	ENST00000519127|ENST00000517962;ENST00000520207|ENST00000240123;ENST00000428103	.|.|T;T	.|.|0.10288	.|.|2.93;2.89	5.4|5.4|5.4	5.4|5.4|5.4	0.78164|0.78164|0.78164	.|.|Src homology-3 domain (4);	.|.|0.000000	.|.|0.53938	.|.|D	.|.|0.000047	T|.|T	0.40743|.|0.40743	0.1129|.|0.1129	M|M|M	0.87682|0.87682|0.87682	2.9|2.9|2.9	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D	.|.|0.76494	.|.|0.999	.|.|D	.|.|0.76071	.|.|0.987	T|.|T	0.41251|.|0.41251	-0.9519|.|-0.9519	6|.|10	0.87932|.|0.87932	D|.|D	0|.|0	-24.7239|-24.7239|-24.7239	18.3208|18.3208|18.3208	0.90238|0.90238|0.90238	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|656	.|.|O60504	.|.|VINEX_HUMAN	D|X|M	33|168;84|656;314	.|.|ENSP00000240123:R656M;ENSP00000408476:R314M	ENSP00000428930:E33D|.|ENSP00000240123:R656M	E|G|R	+|+|+	3|1|2	2|0|0	SORBS3|SORBS3|SORBS3	22488137|22488137|22488137	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.958000|0.958000|0.958000	0.62258|0.62258|0.62258	7.187000|7.187000|7.187000	0.77730|0.77730|0.77730	2.688000|2.688000|2.688000	0.91661|0.91661|0.91661	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAG|GGA|AGG		0.612	SORBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254647.3	NM_005775		65	180	1	0	2.02627e-32	1	2.52178e-32	65	180				
PPP1R16B	26051	broad.mit.edu	37	20	37524227	37524227	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:37524227A>T	ENST00000299824.1	+	4	530	c.341A>T	c.(340-342)gAg>gTg	p.E114V	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.E114V|PPP1R16B_ENST00000468265.1_3'UTR	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	114					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GACAACTTTGAGGAAATTGTG	0.612																																						ENST00000299824.1																			0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49						c.(340-342)gAg>gTg		protein phosphatase 1, regulatory subunit 16B							120.0	99.0	106.0					20																	37524227		2203	4300	6503	SO:0001583	missense	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37524227A>T	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.341A>T	20.37:g.37524227A>T	ENSP00000299824:p.Glu114Val					PPP1R16B_ENST00000373331.2_Missense_Mutation_p.E114V|PPP1R16B_ENST00000468265.1_3'UTR	p.E114V	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN			4	530	+		Myeloproliferative disorder(115;0.00878)	114					A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	ENST00000299824.1	37	c.341A>T	CCDS13309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.57|16.57	3.160797|3.160797	0.57368|0.57368	.|.	.|.	ENSG00000101445|ENSG00000101445	ENST00000299824;ENST00000373331|ENST00000438192	T;T|.	0.62105|.	0.05;0.05|.	3.85|3.85	2.74|2.74	0.32292|0.32292	Ankyrin repeat-containing domain (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.34803|0.34803	0.0910|0.0910	N|N	0.11756|0.11756	0.17|0.17	0.49687|0.49687	D|D	0.999813|0.999813	B;P|.	0.37548|.	0.392;0.599|.	B;B|.	0.41135|.	0.348;0.348|.	T|T	0.05321|0.05321	-1.0892|-1.0892	10|5	0.27785|.	T|.	0.31|.	.|.	9.2401|9.2401	0.37491|0.37491	0.9127:0.0:0.0873:0.0|0.9127:0.0:0.0873:0.0	.|.	114;114|.	E9PFS8;Q96T49|.	.;PP16B_HUMAN|.	V|W	114|57	ENSP00000299824:E114V;ENSP00000362428:E114V|.	ENSP00000299824:E114V|.	E|R	+|+	2|1	0|2	PPP1R16B|PPP1R16B	36957641|36957641	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	4.645000|4.645000	0.61404|0.61404	0.660000|0.660000	0.30964|0.30964	0.515000|0.515000	0.50301|0.50301	GAG|AGG		0.612	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		24	30	0	0	0	1	0	24	30				
DNAH2	146754	broad.mit.edu	37	17	7623122	7623122	+	Missense_Mutation	SNP	C	C	T	rs145790522		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:7623122C>T	ENST00000572933.1	+	2	1530	c.70C>T	c.(70-72)Cgg>Tgg	p.R24W	DNAH2_ENST00000389173.2_Missense_Mutation_p.R24W|DNAH2_ENST00000570791.1_Missense_Mutation_p.R24W|DNAH2_ENST00000082259.3_Missense_Mutation_p.R24W			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	24	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTGGTCAGGGCGGGCCACTCG	0.627																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(70-72)Cgg>Tgg		dynein, axonemal, heavy chain 2		C	TRP/ARG	0,4404		0,0,2202	26.0	26.0	26.0		70	2.3	0.0	17	dbSNP_134	26	1,8599		0,1,4299	no	missense	DNAH2	NM_020877.2	101	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	24/4428	7623122	1,13003	2202	4300	6502	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7623122C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.70C>T	17.37:g.7623122C>T	ENSP00000458355:p.Arg24Trp					DNAH2_ENST00000082259.3_Missense_Mutation_p.R24W|DNAH2_ENST00000570791.1_Missense_Mutation_p.R24W|DNAH2_ENST00000389173.2_Missense_Mutation_p.R24W	p.R24W			Q9P225	DYH2_HUMAN			2	1530	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	24			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.70C>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.091610	0.36952	0.0	1.16E-4	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.46451	0.87;0.87	4.33	2.29	0.28610	.	7.592260	0.00732	N	0.000948	T	0.40670	0.1126	N	0.08118	0	0.09310	N	1	D;D	0.76494	0.99;0.999	P;P	0.59288	0.454;0.855	T	0.37197	-0.9716	10	0.87932	D	0	.	5.2591	0.15563	0.2016:0.6922:0.0:0.1062	.	24;24	Q9P225;Q9P225-3	DYH2_HUMAN;.	W	24	ENSP00000373825:R24W;ENSP00000082259:R24W	ENSP00000082259:R24W	R	+	1	2	DNAH2	7563847	0.003000	0.15002	0.001000	0.08648	0.021000	0.10359	0.371000	0.20450	0.556000	0.29098	0.561000	0.74099	CGG		0.627	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		21	19	0	0	0	1	0	21	19				
SCRIB	23513	broad.mit.edu	37	8	144891171	144891171	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:144891171C>T	ENST00000320476.3	-	15	1729	c.1723G>A	c.(1723-1725)Gca>Aca	p.A575T	SCRIB_ENST00000356994.2_Missense_Mutation_p.A575T|SCRIB_ENST00000377533.3_Missense_Mutation_p.A494T	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	575	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGCAGCAGTGCGTCCTCTGCG	0.652																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(1723-1725)Gca>Aca		scribbled planar cell polarity protein							47.0	47.0	47.0					8																	144891171		2203	4300	6503	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144891171C>T	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1723G>A	8.37:g.144891171C>T	ENSP00000322938:p.Ala575Thr					SCRIB_ENST00000377533.3_Missense_Mutation_p.A494T|SCRIB_ENST00000320476.3_Missense_Mutation_p.A575T	p.A575T	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		15	1729	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		575			Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.1723G>A	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	c	0.141	-1.102580	0.01828	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.34667	1.58;1.54;1.35	4.79	2.41	0.29592	.	.	.	.	.	T	0.07458	0.0188	N	0.00142	-2.005	0.24671	N	0.993413	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.33979	-0.9847	9	0.07175	T	0.84	.	7.901	0.29734	0.0:0.1729:0.0:0.8271	.	575;575	Q14160;Q14160-3	SCRIB_HUMAN;.	T	575;575;494	ENSP00000349486:A575T;ENSP00000322938:A575T;ENSP00000366756:A494T	ENSP00000322938:A575T	A	-	1	0	SCRIB	144963159	1.000000	0.71417	0.992000	0.48379	0.020000	0.10135	3.131000	0.50515	0.231000	0.21079	-0.494000	0.04653	GCA		0.652	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		38	70	0	0	0	1	0	38	70				
IVD	3712	broad.mit.edu	37	15	40698035	40698035	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:40698035A>G	ENST00000249760.2	+	1	350	c.7A>G	c.(7-9)Act>Gct	p.T3A	IVD_ENST00000487418.2_Missense_Mutation_p.T6A|IVD_ENST00000479013.2_Missense_Mutation_p.T6A|IVD_ENST00000490194.1_3'UTR	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	3					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	flavin adenine dinucleotide binding (GO:0050660)|isovaleryl-CoA dehydrogenase activity (GO:0008470)			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)	Flavin adenine dinucleotide(DB03147)	AGAGATGGCGACTGCGACTCG	0.672																																					GBM(31;293 617 7486 32527 34655)	ENST00000249760.2																			0				kidney(1)|lung(5)|ovary(2)|prostate(1)	9						c.(7-9)Act>Gct		isovaleryl-CoA dehydrogenase							30.0	37.0	35.0					15																	40698035		2202	4300	6502	SO:0001583	missense	3712				leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity	g.chr15:40698035A>G	AF038317	CCDS10057.1, CCDS10057.2, CCDS53930.1	15q14-q15	2010-05-11	2010-05-11		ENSG00000128928	ENSG00000128928	1.3.99.10		6186	protein-coding gene	gene with protein product		607036	"""isovaleryl Coenzyme A dehydrogenase"", ""isovaleryl CoA dehydrogenase"""			2063866	Standard	NM_002225		Approved	ACAD2	uc001zls.3	P26440	OTTHUMG00000129984	ENST00000249760.2:c.7A>G	15.37:g.40698035A>G	ENSP00000249760:p.Thr3Ala					IVD_ENST00000479013.2_Missense_Mutation_p.T6A|IVD_ENST00000490194.1_3'UTR|IVD_ENST00000487418.2_Missense_Mutation_p.T6A	p.T3A	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)	1	350	+		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	3					B2RCV5|B3KVI7|J3KR54|Q53XZ9|Q96AF6	Missense_Mutation	SNP	ENST00000249760.2	37	c.7A>G		.	.	.	.	.	.	.	.	.	.	A	10.74	1.436532	0.25813	.	.	ENSG00000128928	ENST00000249760;ENST00000479013;ENST00000487418	D;D;D	0.97598	-4.45;-4.45;-4.45	4.37	-2.56	0.06268	.	15.966800	0.00357	N	0.000038	D	0.90456	0.7011	N	0.08118	0	0.20975	N	0.999813	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	D	0.85568	0.1232	10	0.22109	T	0.4	.	5.1421	0.14965	0.3244:0.0:0.0895:0.5862	.	3;6	P26440;B3KVI7	IVD_HUMAN;.	A	3;6;6	ENSP00000249760:T3A;ENSP00000417990:T6A;ENSP00000418397:T6A	ENSP00000249760:T3A	T	+	1	0	IVD	38485327	0.880000	0.30214	0.439000	0.26833	0.109000	0.19521	0.161000	0.16481	-0.465000	0.06953	-1.441000	0.01070	ACT		0.672	IVD-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				15	47	0	0	0	1	0	15	47				
SYNPO2	171024	broad.mit.edu	37	4	119948386	119948386	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:119948386C>A	ENST00000429713.2	+	3	1044	c.862C>A	c.(862-864)Ctc>Atc	p.L288I	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.L288I|SYNPO2_ENST00000307142.4_Missense_Mutation_p.L288I	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	288						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGAAGTGATCCTCGACTGCTC	0.562																																						ENST00000307142.4																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(862-864)Ctc>Atc		synaptopodin 2							81.0	76.0	78.0					4																	119948386		2203	4300	6503	SO:0001583	missense	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119948386C>A	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.862C>A	4.37:g.119948386C>A	ENSP00000395143:p.Leu288Ile					SYNPO2_ENST00000429713.2_Missense_Mutation_p.L288I|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.L288I	p.L288I	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN			3	1058	+			288					B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	37	c.862C>A	CCDS47129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.38|12.38	1.921604|1.921604	0.33908|0.33908	.|.	.|.	ENSG00000172403|ENSG00000172403	ENST00000307142;ENST00000429713;ENST00000434046|ENST00000504178	T;T;T|.	0.12039|.	2.72;2.77;2.76|.	5.11|5.11	-0.207|-0.207	0.13189|0.13189	.|.	0.410379|.	0.20245|.	N|.	0.096218|.	T|T	0.52549|0.52549	0.1741|0.1741	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.16166|.	0.016;0.013;0.016;0.016|.	B;B;B;B|.	0.14578|.	0.008;0.011;0.008;0.008|.	T|T	0.42548|0.42548	-0.9445|-0.9445	10|5	0.52906|.	T|.	0.07|.	-5.982|-5.982	5.5367|5.5367	0.17016|0.17016	0.0:0.4986:0.263:0.2384|0.0:0.4986:0.263:0.2384	.|.	288;288;288;288|.	B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6|.	.;.;.;SYNP2_HUMAN|.	I|H	288|239	ENSP00000306015:L288I;ENSP00000395143:L288I;ENSP00000390965:L288I|.	ENSP00000306015:L288I|.	L|P	+|+	1|2	0|0	SYNPO2|SYNPO2	120167834|120167834	0.993000|0.993000	0.37304|0.37304	0.784000|0.784000	0.31847|0.31847	0.865000|0.865000	0.49528|0.49528	0.330000|0.330000	0.19715|0.19715	-0.010000|-0.010000	0.14271|0.14271	-0.310000|-0.310000	0.09108|0.09108	CTC|CCT		0.562	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			13	23	1	0	7.03913e-09	1	7.86726e-09	13	23				
NUFIP1	26747	broad.mit.edu	37	13	45563305	45563305	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr13:45563305C>T	ENST00000379161.4	-	1	313	c.267G>A	c.(265-267)gcG>gcA	p.A89A	GPALPP1_ENST00000379151.4_5'Flank|RP11-321C24.1_ENST00000437748.2_lincRNA|GPALPP1_ENST00000361121.2_5'Flank	NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	89	Pro-rich.				box C/D snoRNP assembly (GO:0000492)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA processing (GO:0006396)	cytosolic ribosome (GO:0022626)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|pre-snoRNP complex (GO:0070761)|presynaptic active zone (GO:0048786)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		AGGGGGGTTGCGCCCCGGGAA	0.642																																						ENST00000379161.4																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18						c.(265-267)gcG>gcA		nuclear fragile X mental retardation protein interacting protein 1							18.0	21.0	20.0					13																	45563305		2199	4299	6498	SO:0001819	synonymous_variant	26747				box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding	g.chr13:45563305C>T	AF159548	CCDS9393.1	13q14	2008-02-05			ENSG00000083635	ENSG00000083635			8057	protein-coding gene	gene with protein product		604354				10556305, 10894927	Standard	NM_012345		Approved	NUFIP	uc001uzp.2	Q9UHK0	OTTHUMG00000016842	ENST00000379161.4:c.267G>A	13.37:g.45563305C>T						RP11-321C24.1_ENST00000437748.2_lincRNA	p.A89A	NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)	1	313	-		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	89			Pro-rich.		Q8WVM5|Q96SG1	Silent	SNP	ENST00000379161.4	37	c.267G>A	CCDS9393.1																																																																																				0.642	NUFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044755.2	NM_012345		18	26	0	0	0	1	0	18	26				
NBEAL2	23218	broad.mit.edu	37	3	47040353	47040353	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:47040353C>T	ENST00000450053.3	+	23	3547	c.3368C>T	c.(3367-3369)aCa>aTa	p.T1123I	NBEAL2_ENST00000292309.5_Missense_Mutation_p.T1123I|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1123					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TTGGCGGCCACAGGCGATGAC	0.657											OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(3367-3369)aCa>aTa		neurobeachin-like 2							34.0	38.0	37.0					3																	47040353		2116	4226	6342	SO:0001583	missense	23218						binding	g.chr3:47040353C>T	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.3368C>T	3.37:g.47040353C>T	ENSP00000415034:p.Thr1123Ile		OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	943	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.T1123I	p.T1123I	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	23	3547	+		Acute lymphoblastic leukemia(5;0.0534)	1123					O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	c.3368C>T	CCDS46817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.026|0.026	-1.366983|-1.366983	0.01225|0.01225	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000416683|ENST00000292309;ENST00000450053	.|T;T	.|0.39997	.|1.05;1.69	5.62|5.62	0.0515|0.0515	0.14298|0.14298	.|.	.|0.950516	.|0.08885	.|N	.|0.879478	.|T	.|0.19446	.|0.0467	N|N	0.04508|0.04508	-0.205|-0.205	0.20975|0.20975	N|N	0.999815|0.999815	.|B	.|0.09022	.|0.002	.|B	.|0.04013	.|0.001	.|T	.|0.28364	.|-1.0046	.|10	.|0.13853	.|T	.|0.58	.|.	9.922|9.922	0.41470|0.41470	0.0:0.5472:0.0:0.4528|0.0:0.5472:0.0:0.4528	.|.	.|1123	.|Q6ZNJ1	.|NBEL2_HUMAN	X|I	595|1123	.|ENSP00000292309:T1123I;ENSP00000415034:T1123I	.|ENSP00000292309:T1123I	Q|T	+|+	1|2	0|0	NBEAL2|NBEAL2	47015357|47015357	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.025000|0.025000	0.11179|0.11179	-0.155000|-0.155000	0.10115|0.10115	-0.298000|-0.298000	0.08921|0.08921	0.561000|0.561000	0.74099|0.74099	CAG|ACA		0.657	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		6	9	0	0	0	1	0	6	9				
OR2T11	127077	broad.mit.edu	37	1	248789550	248789550	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:248789550C>T	ENST00000330803.2	-	1	941	c.880G>A	c.(880-882)Gtc>Atc	p.V294I		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	294						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCCCCTATGACGTCCTTGTTT	0.478																																						ENST00000330803.2																			0				breast(1)|large_intestine(5)|lung(20)|skin(2)	28						c.(880-882)Gtc>Atc		olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)							106.0	110.0	109.0					1																	248789550		2062	4239	6301	SO:0001583	missense	127077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248789550C>T	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"""GPCR / Class A : Olfactory receptors"""	19574	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 11"""				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.880G>A	1.37:g.248789550C>T	ENSP00000328934:p.Val294Ile						p.V294I	NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	941	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		294					Q6IEY6	Missense_Mutation	SNP	ENST00000330803.2	37	c.880G>A	CCDS31122.1	.	.	.	.	.	.	.	.	.	.	.	10.81	1.454762	0.26161	.	.	ENSG00000183130	ENST00000330803	T	0.37235	1.21	4.48	1.62	0.23740	.	0.654450	0.12502	N	0.463226	T	0.19087	0.0458	N	0.05510	-0.035	0.09310	N	1	B	0.19935	0.04	B	0.20767	0.031	T	0.22103	-1.0226	10	0.66056	D	0.02	.	7.8931	0.29691	0.0:0.6665:0.0:0.3335	.	294	Q8NH01	O2T11_HUMAN	I	294	ENSP00000328934:V294I	ENSP00000328934:V294I	V	-	1	0	OR2T11	246856173	0.023000	0.18921	0.013000	0.15412	0.045000	0.14185	0.129000	0.15830	0.157000	0.19338	-0.732000	0.03574	GTC		0.478	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964		73	100	0	0	0	1	0	73	100				
NPHP3	27031	broad.mit.edu	37	3	132437923	132437923	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:132437923G>A	ENST00000337331.5	-	3	671	c.585C>T	c.(583-585)agC>agT	p.S195S	NPHP3_ENST00000476742.1_5'Flank|NPHP3-AS1_ENST00000489343.1_RNA|NPHP3_ENST00000343113.4_Silent_p.S195S|NPHP3_ENST00000326682.8_Silent_p.S195S	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	195					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCTGAAGTTTGCTCTCCAACT	0.393																																						ENST00000326682.8																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(583-585)agC>agT		nephronophthisis 3 (adolescent)							111.0	106.0	108.0					3																	132437923		2203	4300	6503	SO:0001819	synonymous_variant	27031				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132437923G>A	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.585C>T	3.37:g.132437923G>A						NPHP3_ENST00000337331.5_Silent_p.S195S|NPHP3_ENST00000343113.4_Silent_p.S195S	p.S195S			Q7Z494	NPHP3_HUMAN			3	661	-			195					Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Silent	SNP	ENST00000337331.5	37	c.585C>T	CCDS3078.1																																																																																				0.393	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240		29	89	0	0	0	1	0	29	89				
PKD1L2	114780	broad.mit.edu	37	16	81208415	81208415	+	RNA	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:81208415G>T	ENST00000527937.1	-	0	569				PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000531391.1_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGGCCAGCTGGAGGAGCTGCT	0.582																																						ENST00000599697.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(2686-2688)ctC>ctA		polycystic kidney disease 1-like 2							55.0	54.0	54.0					16																	81208415		2055	4214	6269			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81208415G>T	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81208415G>T						PKD1L2_ENST00000531391.1_RNA|PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000527937.1_RNA	p.L896L			Q7Z442	PK1L2_HUMAN			16	2687	-			896			REJ.		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000527937.1	37	c.2688C>A		.	.	.	.	.	.	.	.	.	.	G	8.965	0.971473	0.18736	.	.	ENSG00000166473	ENST00000526632	.	.	.	4.7	3.72	0.42706	.	.	.	.	.	T	0.62998	0.2474	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61058	-0.7139	4	.	.	.	-4.8308	12.2753	0.54730	0.0:0.1714:0.8286:0.0	.	.	.	.	T	424	.	.	P	-	1	0	PKD1L2	79765916	1.000000	0.71417	0.998000	0.56505	0.811000	0.45836	2.150000	0.42254	1.060000	0.40578	0.555000	0.69702	CCA		0.582	PKD1L2-007	KNOWN	basic|exp_conf	protein_coding	polymorphic_pseudogene	OTTHUMT00000387978.1			18	58	1	0	1.2644e-06	1	1.37278e-06	18	58				
CBWD1	55871	broad.mit.edu	37	9	164038	164038	+	Splice_Site	SNP	C	C	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:164038C>G	ENST00000356521.4	-	5	519		c.e5-1		CBWD1_ENST00000314367.10_Splice_Site|CBWD1_ENST00000377447.3_Splice_Site|CBWD1_ENST00000377400.4_Splice_Site|CBWD1_ENST00000431099.2_Splice_Site|CBWD1_ENST00000382447.4_Splice_Site	NM_018491.3	NP_060961.3	Q9BRT8	CBWD1_HUMAN	COBW domain containing 1								ATP binding (GO:0005524)	p.?(2)		kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCCACTGCACCTGAAAATATA	0.284																																						ENST00000377447.3																			2	Unknown(2)	p.?(2)	lung(2)	kidney(1)|lung(2)|ovary(1)|skin(1)	5						c.e5-1		COBW domain containing 1							44.0	70.0	61.0					9																	164038		1423	2635	4058	SO:0001630	splice_region_variant	55871						ATP binding|protein binding	g.chr9:164038C>G	AY343911	CCDS6438.1, CCDS47947.1, CCDS47948.1	9p24.3	2008-02-05			ENSG00000172785	ENSG00000172785			17134	protein-coding gene	gene with protein product		611078				15233989, 12421752	Standard	NM_018491		Approved		uc003zga.4	Q9BRT8	OTTHUMG00000019425	ENST00000356521.4:c.431-1G>C	9.37:g.164038C>G						CBWD1_ENST00000377400.4_Splice_Site|CBWD1_ENST00000314367.10_Splice_Site|CBWD1_ENST00000382447.4_Splice_Site|CBWD1_ENST00000431099.2_Splice_Site|CBWD1_ENST00000356521.4_Splice_Site				Q9BRT8	CBWD1_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	5	486	-	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)						A2RU55|A8K3N3|B0AZR4|Q49AJ1|Q5VVK2|Q6VBU6|Q7Z5Z0|Q7Z652|Q9BY38|Q9NYD0	Splice_Site	SNP	ENST00000356521.4	37		CCDS6438.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.304448	0.60305	.	.	ENSG00000172785	ENST00000356521;ENST00000377400;ENST00000382447;ENST00000314367;ENST00000377447;ENST00000431099;ENST00000377347	.	.	.	3.71	3.71	0.42584	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6706	0.77270	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CBWD1	154038	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.833000	0.75334	2.049000	0.60858	0.549000	0.68633	.		0.284	CBWD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051463.1	NM_018491	Intron	4	168	0	0	0	1	0	4	168				
SPATA4	132851	broad.mit.edu	37	4	177113863	177113863	+	Silent	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:177113863G>T	ENST00000280191.2	-	4	711	c.603C>A	c.(601-603)ccC>ccA	p.P201P	SPATA4_ENST00000515234.1_Silent_p.P28P	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	201						cytoplasm (GO:0005737)				NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		TCAGCATGTTGGGATTGCTTA	0.383																																						ENST00000515234.1																			0				NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22						c.(82-84)ccC>ccA		spermatogenesis associated 4							91.0	92.0	92.0					4																	177113863		2203	4300	6503	SO:0001819	synonymous_variant	132851				apoptosis|spermatogenesis			g.chr4:177113863G>T	AY040204	CCDS3826.1	4q34.2	2008-02-05			ENSG00000150628	ENSG00000150628			17333	protein-coding gene	gene with protein product		609879					Standard	NM_144644		Approved	TSARG2, SPEF1B	uc003iuo.1	Q8NEY3	OTTHUMG00000160788	ENST00000280191.2:c.603C>A	4.37:g.177113863G>T						SPATA4_ENST00000280191.2_Silent_p.P201P	p.P28P			Q8NEY3	SPAT4_HUMAN		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)	3	1679	-		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)	201					Q8NCS5|Q8WW15	Silent	SNP	ENST00000280191.2	37	c.84C>A	CCDS3826.1																																																																																				0.383	SPATA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362326.1	NM_144644		24	39	1	0	1.96895e-08	1	2.18772e-08	24	39				
ZNF548	147694	broad.mit.edu	37	19	57910460	57910460	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:57910460A>G	ENST00000366197.5	+	3	1055	c.805A>G	c.(805-807)Atg>Gtg	p.M269V	ZNF548_ENST00000336128.7_Missense_Mutation_p.M281V|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Intron|AC003002.6_ENST00000600421.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	269					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTACCGACTCATGAGACATAA	0.418																																						ENST00000366197.5																			0				breast(1)	1						c.(805-807)Atg>Gtg		zinc finger protein 548							54.0	53.0	53.0					19																	57910460		2198	4298	6496	SO:0001583	missense	147694				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57910460A>G	AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.805A>G	19.37:g.57910460A>G	ENSP00000379482:p.Met269Val					AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.M281V|AC003002.6_ENST00000600421.1_Intron|AC004076.7_ENST00000597410.1_Intron	p.M269V	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	1055	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	269					Q96M05	Missense_Mutation	SNP	ENST00000366197.5	37	c.805A>G	CCDS46209.1	.	.	.	.	.	.	.	.	.	.	A	3.175	-0.169166	0.06461	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	T;T	0.16897	2.31;2.31	2.72	-5.44	0.02624	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03305	0.0096	N	0.00560	-1.38	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41980	-0.9478	9	0.16896	T	0.51	.	5.5107	0.16878	0.4611:0.2542:0.2847:0.0	.	281;269	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	V	281;269	ENSP00000337555:M281V;ENSP00000379482:M269V	ENSP00000337555:M281V	M	+	1	0	ZNF548	62602272	0.000000	0.05858	0.000000	0.03702	0.828000	0.46876	-2.290000	0.01148	-1.510000	0.01796	-1.119000	0.02030	ATG		0.418	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909		38	45	0	0	0	1	0	38	45				
ANKRD36	375248	broad.mit.edu	37	2	97869931	97869931	+	Missense_Mutation	SNP	A	A	T	rs76309140		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:97869931A>T	ENST00000461153.2	+	50	3236	c.2992A>T	c.(2992-2994)Aca>Tca	p.T998S	ANKRD36_ENST00000420699.2_Missense_Mutation_p.T998S			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	998								p.T998S(13)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CATTCAGGCTACAAGTGATGA	0.289																																						ENST00000420699.2																			13	Substitution - Missense(13)	p.T998S(13)	kidney(6)|endometrium(4)|prostate(3)	endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(2992-2994)Aca>Tca		ankyrin repeat domain 36							37.0	44.0	42.0					2																	97869931		692	1587	2279	SO:0001583	missense	375248							g.chr2:97869931A>T	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2992A>T	2.37:g.97869931A>T	ENSP00000419530:p.Thr998Ser					ANKRD36_ENST00000461153.2_Missense_Mutation_p.T998S	p.T998S	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			50	3236	+			998					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.2992A>T	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	3.819	-0.038219	0.07497	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.32753	1.44;1.44	0.63	-0.824	0.10812	.	.	.	.	.	T	0.14056	0.0340	L	0.27053	0.805	0.09310	N	1	P	0.40476	0.718	B	0.28849	0.095	T	0.12837	-1.0532	8	0.38643	T	0.18	.	.	.	.	.	998	A6QL64	AN36A_HUMAN	S	998;998;360	ENSP00000419530:T998S;ENSP00000391950:T998S	ENSP00000391950:T998S	T	+	1	0	ANKRD36	97233658	0.019000	0.18553	0.011000	0.14972	0.022000	0.10575	-0.850000	0.04317	-0.324000	0.08589	0.147000	0.16070	ACA		0.289	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			4	28	0	0	0	1	0	4	28				
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:45128812C>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AGTCCTGTTTCTGTGTGGATT	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128812C>T																													17.37:g.45128812C>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	117	0	0	0	1	0	4	117				
C1QTNF4	114900	broad.mit.edu	37	11	47611715	47611715	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:47611715C>T	ENST00000302514.3	-	2	1164	c.648G>A	c.(646-648)gcG>gcA	p.A216A		NM_031909.2	NP_114115.2	Q9BXJ3	C1QT4_HUMAN	C1q and tumor necrosis factor related protein 4	216	C1q 2. {ECO:0000255|PROSITE- ProRule:PRU00368}.					extracellular space (GO:0005615)				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						CGCCGGCCGCCGCGTCGAAGT	0.672																																						ENST00000302514.3																			0				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						c.(646-648)gcG>gcA		C1q and tumor necrosis factor related protein 4							7.0	10.0	9.0					11																	47611715		2040	4075	6115	SO:0001819	synonymous_variant	114900					extracellular region		g.chr11:47611715C>T	AF329838	CCDS7942.1	11q11	2008-07-18				ENSG00000172247			14346	protein-coding gene	gene with protein product	"""complement-c1q tumor necrosis factor-related protein 4"""	614911				16094384	Standard	NM_031909		Approved	CTRP4, ZACRP4	uc001ngc.2	Q9BXJ3		ENST00000302514.3:c.648G>A	11.37:g.47611715C>T							p.A216A	NM_031909.2	NP_114115.2	Q9BXJ3	C1QT4_HUMAN			2	1164	-			216			C1q 2.		Q8IV25	Silent	SNP	ENST00000302514.3	37	c.648G>A	CCDS7942.1																																																																																				0.672	C1QTNF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391772.1	NM_031909		24	17	0	0	0	1	0	24	17				
DUSP18	150290	broad.mit.edu	37	22	31059498	31059498	+	Missense_Mutation	SNP	G	G	A	rs538206035|rs142746950	byFrequency	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr22:31059498G>A	ENST00000334679.3	-	2	998	c.493C>T	c.(493-495)Cac>Tac	p.H165Y	DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000407308.1_Missense_Mutation_p.H165Y|DUSP18_ENST00000403268.1_3'UTR|DUSP18_ENST00000404885.1_Missense_Mutation_p.H165Y	NM_152511.3	NP_689724.3	Q8NEJ0	DUS18_HUMAN	dual specificity phosphatase 18	165					peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						CTGACCATGTGCACAGTGTTC	0.532																																						ENST00000334679.3																			0				large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						c.(493-495)Cac>Tac		dual specificity phosphatase 18		G	TYR/HIS	0,4406		0,0,2203	121.0	112.0	115.0		493	5.3	0.9	22	dbSNP_134	115	2,8598	2.2+/-6.3	0,2,4298	no	missense	DUSP18	NM_152511.3	83	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	165/189	31059498	2,13004	2203	4300	6503	SO:0001583	missense	150290					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:31059498G>A	AF461689	CCDS13883.1	22q12.1	2011-06-09				ENSG00000167065		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	18484	protein-coding gene	gene with protein product		611446				12408986	Standard	NM_152511		Approved	DUSP20	uc003aiw.1	Q8NEJ0		ENST00000334679.3:c.493C>T	22.37:g.31059498G>A	ENSP00000333917:p.His165Tyr					DUSP18_ENST00000407308.1_Missense_Mutation_p.H165Y|DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000404885.1_Missense_Mutation_p.H165Y|DUSP18_ENST00000403268.1_3'UTR	p.H165Y	NM_152511.3	NP_689724.3	Q8NEJ0	DUS18_HUMAN			2	998	-			165					B3KPA4	Missense_Mutation	SNP	ENST00000334679.3	37	c.493C>T	CCDS13883.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823411	0.32237	0.0	2.33E-4	ENSG00000167065	ENST00000404885;ENST00000407308;ENST00000334679	T;T;T	0.03386	3.95;3.95;3.95	5.27	5.27	0.74061	.	0.472153	0.20911	N	0.083477	T	0.05777	0.0151	L	0.50333	1.59	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.17258	-1.0375	10	0.62326	D	0.03	.	13.4857	0.61364	0.0:0.0:0.8436:0.1564	.	165	Q8NEJ0	DUS18_HUMAN	Y	165	ENSP00000385463:H165Y;ENSP00000386063:H165Y;ENSP00000333917:H165Y	ENSP00000333917:H165Y	H	-	1	0	DUSP18	29389498	0.802000	0.28943	0.925000	0.36789	0.581000	0.36288	3.228000	0.51270	2.471000	0.83476	0.655000	0.94253	CAC		0.532	DUSP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321400.1			14	62	0	0	0	1	0	14	62				
IL20RA	53832	broad.mit.edu	37	6	137323366	137323366	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:137323366C>A	ENST00000316649.5	-	7	1226	c.991G>T	c.(991-993)Gga>Tga	p.G331*	IL20RA_ENST00000367748.1_Nonsense_Mutation_p.G220*|RP11-204P2.3_ENST00000458017.1_RNA|IL20RA_ENST00000541547.1_Nonsense_Mutation_p.G282*|IL20RA_ENST00000468393.1_5'Flank	NM_001278722.1|NM_014432.2	NP_001265651.1|NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	331					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of bone resorption (GO:0045124)	integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		CTGCTTTTTCCCAGTAAACTC	0.433																																						ENST00000367748.1																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(658-660)Gga>Tga		interleukin 20 receptor, alpha							52.0	56.0	55.0					6																	137323366		2203	4300	6503	SO:0001587	stop_gained	53832					integral to membrane	receptor activity	g.chr6:137323366C>A	AF184971	CCDS5181.1, CCDS64535.1, CCDS64536.1	6q23.3	2008-02-05			ENSG00000016402	ENSG00000016402		"""Interleukins and interleukin receptors"""	6003	protein-coding gene	gene with protein product		605620				10875937, 11163236	Standard	NM_001278724		Approved	ZCYTOR7, IL-20R1	uc003qhj.3	Q9UHF4	OTTHUMG00000015654	ENST00000316649.5:c.991G>T	6.37:g.137323366C>A	ENSP00000314976:p.Gly331*					IL20RA_ENST00000316649.5_Nonsense_Mutation_p.G331*|IL20RA_ENST00000541547.1_Nonsense_Mutation_p.G282*	p.G220*			Q9UHF4	I20RA_HUMAN		GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)	6	1244	-	Colorectal(23;0.24)		331			Fibronectin type-III 2.		B4DLR5|F5H675|Q14CW2|Q6UWA9|Q96SH8	Nonsense_Mutation	SNP	ENST00000316649.5	37	c.658G>T	CCDS5181.1	.	.	.	.	.	.	.	.	.	.	C	40	8.136297	0.98672	.	.	ENSG00000016402	ENST00000316649;ENST00000367748;ENST00000541547	.	.	.	5.75	5.75	0.90469	.	0.970208	0.08522	N	0.933340	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-3.5397	16.6534	0.85222	0.0:1.0:0.0:0.0	.	.	.	.	X	331;220;282	.	ENSP00000314976:G331X	G	-	1	0	IL20RA	137365059	0.006000	0.16342	0.055000	0.19348	0.177000	0.22998	2.120000	0.41968	2.711000	0.92665	0.563000	0.77884	GGA		0.433	IL20RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042393.1	NM_014432		47	61	1	0	1.76056e-25	1	2.16275e-25	47	61				
OTUD7A	161725	broad.mit.edu	37	15	31776656	31776656	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:31776656C>T	ENST00000307050.4	-	11	1714	c.1622G>A	c.(1621-1623)gGc>gAc	p.G541D	OTUD7A_ENST00000382902.1_Missense_Mutation_p.G548D	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	541					protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GCCCATCTTGCCGTGCACCAG	0.657																																						ENST00000382902.1																			0				endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(1642-1644)gGc>gAc		OTU domain containing 7A							51.0	51.0	51.0					15																	31776656		2202	4300	6502	SO:0001583	missense	161725					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	g.chr15:31776656C>T	AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.1622G>A	15.37:g.31776656C>T	ENSP00000305926:p.Gly541Asp					OTUD7A_ENST00000307050.4_Missense_Mutation_p.G541D	p.G548D			Q8TE49	OTU7A_HUMAN		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)	11	1735	-		all_lung(180;1.6e-09)	541					Q8IWK5	Missense_Mutation	SNP	ENST00000307050.4	37	c.1643G>A	CCDS10026.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.466209	0.84425	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.39056	1.1;1.1	4.88	4.88	0.63580	.	0.045838	0.85682	D	0.000000	T	0.52208	0.1720	N	0.22421	0.69	0.53688	D	0.999972	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.56117	-0.8032	10	0.49607	T	0.09	-32.2995	18.0667	0.89392	0.0:1.0:0.0:0.0	.	548;541	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	D	541;548	ENSP00000305926:G541D;ENSP00000372358:G548D	ENSP00000305926:G541D	G	-	2	0	OTUD7A	29563948	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.082000	0.76851	2.241000	0.73720	0.650000	0.86243	GGC		0.657	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901		12	51	0	0	0	1	0	12	51				
NFATC4	4776	broad.mit.edu	37	14	24836273	24836273	+	5'Flank	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:24836273C>T	ENST00000250373.4	+	0	0				NFATC4_ENST00000553879.1_5'Flank|NFATC4_ENST00000554591.1_Missense_Mutation_p.L5F|NFATC4_ENST00000539237.2_5'Flank|NFATC4_ENST00000554661.1_5'Flank|NFATC4_ENST00000555453.1_5'Flank|NFATC4_ENST00000413692.2_Missense_Mutation_p.L5F|NFATC4_ENST00000554050.1_5'Flank|NFATC4_ENST00000554966.1_5'Flank|NFATC4_ENST00000440487.2_Intron|NFATC4_ENST00000555590.1_5'Flank|NFATC4_ENST00000554344.1_5'Flank|NFATC4_ENST00000424781.2_5'Flank|NFATC4_ENST00000553469.1_5'Flank|NFATC4_ENST00000422617.3_5'Flank|NFATC4_ENST00000556279.1_5'Flank|NFATC4_ENST00000553708.1_5'Flank|NFATC4_ENST00000557451.1_5'Flank|NFATC4_ENST00000556169.1_5'Flank	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4						cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		GATAACCACCCTCCCATCTCT	0.572																																						ENST00000413692.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34						c.(13-15)Ctc>Ttc		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4							151.0	158.0	156.0					14																	24836273		1568	3582	5150	SO:0001631	upstream_gene_variant	4776				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:24836273C>T	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351		14.37:g.24836273C>T	Exception_encountered					NFATC4_ENST00000554591.1_Missense_Mutation_p.L5F|NFATC4_ENST00000440487.2_Intron	p.L5F	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	1	157	+			0					B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	37	c.13C>T	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	C	8.812	0.935389	0.18206	.	.	ENSG00000100968	ENST00000413692;ENST00000554591	T;T	0.08720	3.06;3.08	1.51	1.51	0.23008	.	.	.	.	.	T	0.05135	0.0137	.	.	.	0.21762	N	0.999555	P;P;B	0.35821	0.523;0.523;0.232	B;B;B	0.22601	0.04;0.04;0.04	T	0.34775	-0.9815	8	0.87932	D	0	.	6.4361	0.21825	0.0:1.0:0.0:0.0	.	5;5;5	Q14934-2;Q14934-3;Q14934-11	.;.;.	F	5	ENSP00000388910:L5F;ENSP00000452039:L5F	ENSP00000388910:L5F	L	+	1	0	NFATC4	23906113	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.223000	0.09177	1.148000	0.42385	0.484000	0.47621	CTC		0.572	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		9	109	0	0	0	1	0	9	109				
ASIC4	55515	broad.mit.edu	37	2	220396777	220396777	+	Missense_Mutation	SNP	C	C	A	rs201323394		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:220396777C>A	ENST00000347842.3	+	3	1177	c.1163C>A	c.(1162-1164)cCg>cAg	p.P388Q	ASIC4_ENST00000358078.4_Missense_Mutation_p.P388Q|ASIC4_ENST00000473709.1_3'UTR	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	388					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)										CAGGAGGAGCCGCCCTACATC	0.607																																						ENST00000358078.4																			0											c.(1162-1164)cCg>cAg		acid-sensing (proton-gated) ion channel family member 4							83.0	91.0	88.0					2																	220396777		2203	4300	6503	SO:0001583	missense	55515					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	g.chr2:220396777C>A	AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	21263	protein-coding gene	gene with protein product		606715	"""amiloride-sensitive cation channel 4, pituitary"", ""amiloride-sensitive cation channel family member 4, pituitary"""	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.1163C>A	2.37:g.220396777C>A	ENSP00000326627:p.Pro388Gln					ASIC4_ENST00000473709.1_3'UTR|ASIC4_ENST00000347842.3_Missense_Mutation_p.P388Q	p.P388Q			Q96FT7	ACCN4_HUMAN			3	1177	+			388					Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Missense_Mutation	SNP	ENST00000347842.3	37	c.1163C>A	CCDS2442.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.913935	0.72983	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	T;T	0.65916	-0.18;-0.18	3.8	3.8	0.43715	.	0.129018	0.52532	D	0.000070	T	0.78799	0.4340	M	0.77712	2.385	0.54753	D	0.999986	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.991;1.0	T	0.82178	-0.0586	10	0.59425	D	0.04	-11.0064	15.8578	0.78994	0.0:1.0:0.0:0.0	.	388;388;388	Q96FT7;Q96FT7-4;Q96FT7-2	ACCN4_HUMAN;.;.	Q	388	ENSP00000326627:P388Q;ENSP00000350786:P388Q	ENSP00000326627:P388Q	P	+	2	0	ACCN4	220105021	1.000000	0.71417	0.974000	0.42286	0.973000	0.67179	5.884000	0.69729	2.152000	0.67230	0.561000	0.74099	CCG		0.607	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674		4	168	1	0	0.00909568	1	0.0092416	4	168				
USP13	8975	broad.mit.edu	37	3	179474843	179474843	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:179474843G>A	ENST00000263966.3	+	16	2396	c.1925G>A	c.(1924-1926)cGc>cAc	p.R642H	USP13_ENST00000496897.1_Missense_Mutation_p.R577H|USP13_ENST00000482333.1_3'UTR	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	642	USP.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TTTCCAGATCGCCTGATGAAC	0.368																																						ENST00000263966.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46						c.(1924-1926)cGc>cAc		ubiquitin specific peptidase 13 (isopeptidase T-3)							263.0	257.0	259.0					3																	179474843		2203	4300	6503	SO:0001583	missense	8975				ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:179474843G>A	U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.1925G>A	3.37:g.179474843G>A	ENSP00000263966:p.Arg642His					USP13_ENST00000496897.1_Missense_Mutation_p.R577H|USP13_ENST00000482333.1_3'UTR	p.R642H	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)		16	2396	+	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		642					A8K2S3|B4DYF3|D3DNS2|Q96B25	Missense_Mutation	SNP	ENST00000263966.3	37	c.1925G>A	CCDS3235.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952212	0.73787	.	.	ENSG00000058056	ENST00000263966;ENST00000496897	T;T	0.14144	2.53;2.53	5.78	4.91	0.64330	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.534254	0.20589	N	0.089385	T	0.11239	0.0274	N	0.25647	0.755	0.44149	D	0.996946	P	0.51537	0.946	B	0.42343	0.384	T	0.06826	-1.0805	10	0.45353	T	0.12	-4.4365	11.8573	0.52446	0.0814:0.0:0.9186:0.0	.	642	Q92995	UBP13_HUMAN	H	642;577	ENSP00000263966:R642H;ENSP00000417146:R577H	ENSP00000263966:R642H	R	+	2	0	USP13	180957537	0.978000	0.34361	0.997000	0.53966	0.981000	0.71138	1.346000	0.33964	1.453000	0.47775	0.655000	0.94253	CGC		0.368	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1			11	197	0	0	0	1	0	11	197				
C19orf57	79173	broad.mit.edu	37	19	14000543	14000543	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:14000543C>T	ENST00000586783.1	-	5	1125	c.1126G>A	c.(1126-1128)Gct>Act	p.A376T	C19orf57_ENST00000346736.2_Missense_Mutation_p.A376T|C19orf57_ENST00000454313.1_Missense_Mutation_p.A376T|C19orf57_ENST00000591586.1_Intron			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	376					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CCTCCATCAGCGGCCTTCCTC	0.667																																						ENST00000454313.1																			0				breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(1126-1128)Gct>Act		chromosome 19 open reading frame 57							27.0	25.0	25.0					19																	14000543		2203	4295	6498	SO:0001583	missense	79173				multicellular organismal development		protein binding	g.chr19:14000543C>T	BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.1126G>A	19.37:g.14000543C>T	ENSP00000465822:p.Ala376Thr					C19orf57_ENST00000346736.2_Missense_Mutation_p.A376T|C19orf57_ENST00000586783.1_Missense_Mutation_p.A376T|C19orf57_ENST00000591586.1_Intron	p.A376T			Q0VDD7	CS057_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		6	1184	-			376					Q13411|Q8N825|Q96D63|Q9BU49	Missense_Mutation	SNP	ENST00000586783.1	37	c.1126G>A		.	.	.	.	.	.	.	.	.	.	C	9.653	1.142172	0.21205	.	.	ENSG00000132016	ENST00000454313;ENST00000346736	T;T	0.41400	1.0;1.0	4.01	-2.17	0.07059	.	0.896444	0.09357	N	0.813253	T	0.19446	0.0467	N	0.14661	0.345	0.09310	N	1	B;B	0.14012	0.009;0.006	B;B	0.06405	0.002;0.001	T	0.19224	-1.0312	10	0.27785	T	0.31	-4.8497	2.7532	0.05286	0.0957:0.3564:0.3251:0.2228	.	376;376	Q0VDD7-2;Q0VDD7	.;CS057_HUMAN	T	376	ENSP00000404382:A376T;ENSP00000254336:A376T	ENSP00000254336:A376T	A	-	1	0	C19orf57	13861543	0.004000	0.15560	0.003000	0.11579	0.000000	0.00434	0.759000	0.26461	-0.112000	0.11979	-2.357000	0.00240	GCT		0.667	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1	NM_024323		18	43	0	0	0	1	0	18	43				
MYH13	8735	broad.mit.edu	37	17	10247397	10247397	+	Missense_Mutation	SNP	C	C	A	rs545115529		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:10247397C>A	ENST00000418404.3	-	15	1777	c.1614G>T	c.(1612-1614)gaG>gaT	p.E538D	MYH13_ENST00000252172.4_Missense_Mutation_p.E538D|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	538	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ACATGCACTCCTCTTCCAGGA	0.473																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(1612-1614)gaG>gaT		myosin, heavy chain 13, skeletal muscle							109.0	108.0	109.0					17																	10247397		2203	4300	6503	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10247397C>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.1614G>T	17.37:g.10247397C>A	ENSP00000404570:p.Glu538Asp					MYH13_ENST00000252172.4_Missense_Mutation_p.E538D|MYH13_ENST00000570743.1_Missense_Mutation_p.E538D	p.E538D			Q9UKX3	MYH13_HUMAN			15	1777	-			538			Myosin head-like.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.1614G>T	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136713	0.77662	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	T	0.76578	-1.03	4.47	2.47	0.30058	Myosin head, motor domain (3);	.	.	.	.	D	0.86932	0.6052	M	0.87971	2.92	0.36081	D	0.842752	D	0.54207	0.965	D	0.64776	0.929	D	0.89871	0.4023	9	0.87932	D	0	.	9.7779	0.40630	0.0:0.7683:0.0:0.2317	.	538	Q9UKX3	MYH13_HUMAN	D	538;213	ENSP00000252172:E538D	ENSP00000252172:E538D	E	-	3	2	MYH13	10188122	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.871000	0.56077	1.228000	0.43614	0.591000	0.81541	GAG		0.473	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		36	116	1	0	2.87052e-16	1	3.44462e-16	36	116				
LRRK1	79705	broad.mit.edu	37	15	101586254	101586254	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:101586254C>T	ENST00000388948.3	+	21	3391	c.3032C>T	c.(3031-3033)gCc>gTc	p.A1011V	LRRK1_ENST00000284395.5_Missense_Mutation_p.A1008V|RP11-505E24.3_ENST00000558979.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CACCCCACAGCCAACACCATT	0.552																																						ENST00000284395.5																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(3022-3024)gCc>gTc		leucine-rich repeat kinase 1							115.0	123.0	121.0					15																	101586254		2043	4181	6224	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101586254C>T	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.3032C>T	15.37:g.101586254C>T	ENSP00000373600:p.Ala1011Val					RP11-505E24.3_ENST00000558979.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.A1011V	p.A1008V			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		22	3423	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		1011						Missense_Mutation	SNP	ENST00000388948.3	37	c.3023C>T	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.478070	0.44044	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.73897	-0.77;-0.79	5.58	4.63	0.57726	.	0.314049	0.35495	N	0.003166	T	0.46502	0.1396	N	0.02539	-0.55	0.28928	N	0.891714	B	0.30763	0.294	B	0.22152	0.038	T	0.44159	-0.9346	10	0.30078	T	0.28	.	11.5072	0.50474	0.1409:0.7235:0.1356:0.0	.	1011	Q38SD2	LRRK1_HUMAN	V	1011;1008	ENSP00000373600:A1011V;ENSP00000284395:A1008V	ENSP00000284395:A1008V	A	+	2	0	LRRK1	99403777	0.356000	0.24930	0.995000	0.50966	0.899000	0.52679	0.669000	0.25142	1.414000	0.47017	0.655000	0.94253	GCC		0.552	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		7	94	0	0	0	1	0	7	94				
TP53INP2	58476	broad.mit.edu	37	20	33298028	33298028	+	Silent	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:33298028C>A	ENST00000374810.3	+	5	969	c.580C>A	c.(580-582)Cga>Aga	p.R194R	NCOA6_ENST00000593786.1_Intron|TP53INP2_ENST00000374809.2_Silent_p.R194R	NM_021202.1	NP_067025.1	Q8IXH6	T53I2_HUMAN	tumor protein p53 inducible nuclear protein 2	194					autophagic vacuole assembly (GO:0000045)|osteoblast differentiation (GO:0001649)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(1)|urinary_tract(1)	2						GCGGCAGAACCGAGCCCGCGA	0.731																																						ENST00000374810.3																			0				endometrium(1)|urinary_tract(1)	2						c.(580-582)Cga>Aga		tumor protein p53 inducible nuclear protein 2							16.0	16.0	16.0					20																	33298028		2195	4286	6481	SO:0001819	synonymous_variant	58476					nucleus		g.chr20:33298028C>A	AL109824	CCDS13240.1	20q11.22	2010-01-05	2004-06-18	2004-06-18	ENSG00000078804	ENSG00000078804			16104	protein-coding gene	gene with protein product	"""diabetes and obesity regulated"""		"""chromosome 20 open reading frame 110"""	C20orf110		12477932	Standard	NM_021202		Approved	FLJ21759, FLJ23500, DKFZp434B2411, DKFZp434O0827, dJ1181N3.1, PINH, DOR	uc002xau.1	Q8IXH6	OTTHUMG00000032310	ENST00000374810.3:c.580C>A	20.37:g.33298028C>A						TP53INP2_ENST00000374809.2_Silent_p.R194R|NCOA6_ENST00000593786.1_Intron	p.R194R	NM_021202.1	NP_067025.1	Q8IXH6	T53I2_HUMAN			5	969	+			194					A8K8S8|E1P5P6|Q5JX64|Q8IYL5|Q9NU00	Silent	SNP	ENST00000374810.3	37	c.580C>A	CCDS13240.1																																																																																				0.731	TP53INP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078807.2	NM_021202		3	22	1	0	0.00909568	1	0.0092416	3	22				
TBX4	9496	broad.mit.edu	37	17	59534957	59534957	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:59534957G>T	ENST00000240335.1	+	2	291	c.246G>T	c.(244-246)gaG>gaT	p.E82D	RP11-15K2.2_ENST00000592766.1_RNA|TBX4_ENST00000393853.4_Missense_Mutation_p.E82D	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	82					angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AGTTCCACGAGGCGGGCACCG	0.607																																						ENST00000393853.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(244-246)gaG>gaT		T-box 4							98.0	89.0	92.0					17																	59534957		2203	4300	6503	SO:0001583	missense	9496				leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:59534957G>T	AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075		"""T-boxes"""	11603	protein-coding gene	gene with protein product		601719				10945475	Standard	NM_018488		Approved		uc002izi.3	P57082		ENST00000240335.1:c.246G>T	17.37:g.59534957G>T	ENSP00000240335:p.Glu82Asp					TBX4_ENST00000240335.1_Missense_Mutation_p.E82D	p.E82D			P57082	TBX4_HUMAN			3	409	+			82					A5PKU7|B2RMT1|B7ZLV3	Missense_Mutation	SNP	ENST00000240335.1	37	c.246G>T	CCDS11629.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585165	0.86748	.	.	ENSG00000121075	ENST00000393853;ENST00000240335	D;D	0.89552	-2.53;-2.53	5.63	3.46	0.39613	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.051293	0.85682	D	0.000000	D	0.85881	0.5800	L	0.36672	1.1	0.58432	D	0.999999	P;P	0.44659	0.84;0.84	P;P	0.52481	0.7;0.7	T	0.82317	-0.0517	9	.	.	.	.	4.7311	0.12964	0.3939:0.0:0.6061:0.0	.	82;82	A5PKU7;P57082	.;TBX4_HUMAN	D	82	ENSP00000377435:E82D;ENSP00000240335:E82D	.	E	+	3	2	TBX4	56889739	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	3.304000	0.51866	1.381000	0.46364	0.561000	0.74099	GAG		0.607	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449649.1	NM_018488		9	80	1	0	9.70103e-10	1	1.09714e-09	9	80				
ODC1	4953	broad.mit.edu	37	2	10580932	10580932	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:10580932C>T	ENST00000234111.4	-	12	1814	c.1304G>A	c.(1303-1305)aGc>aAc	p.S435N	ODC1_ENST00000405333.1_Missense_Mutation_p.S435N	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	435					cellular nitrogen compound metabolic process (GO:0034641)|kidney development (GO:0001822)|polyamine metabolic process (GO:0006595)|positive regulation of cell proliferation (GO:0008284)|putrescine biosynthetic process from ornithine (GO:0033387)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ornithine decarboxylase activity (GO:0004586)|protein homodimerization activity (GO:0042803)			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Spermine(DB00127)	AGGCAGGGTGCTGGCATCCTG	0.512																																						ENST00000234111.4																			0				NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19						c.(1303-1305)aGc>aAc		ornithine decarboxylase 1	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)						107.0	103.0	104.0					2																	10580932		2203	4300	6503	SO:0001583	missense	4953				polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding	g.chr2:10580932C>T		CCDS1672.1	2p25	2012-10-02			ENSG00000115758	ENSG00000115758	4.1.1.17		8109	protein-coding gene	gene with protein product		165640					Standard	NM_002539		Approved	ODC	uc002rao.1	P11926	OTTHUMG00000090450	ENST00000234111.4:c.1304G>A	2.37:g.10580932C>T	ENSP00000234111:p.Ser435Asn					ODC1_ENST00000405333.1_Missense_Mutation_p.S435N	p.S435N	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	12	1814	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		435					Q53TU3|Q6LDS9	Missense_Mutation	SNP	ENST00000234111.4	37	c.1304G>A	CCDS1672.1	.	.	.	.	.	.	.	.	.	.	C	4.318	0.058257	0.08339	.	.	ENSG00000115758	ENST00000234111;ENST00000405333	T;T	0.42900	0.96;0.96	5.88	4.9	0.64082	.	0.800615	0.12322	N	0.479183	T	0.20536	0.0494	N	0.04959	-0.14	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10451	-1.0629	10	0.18710	T	0.47	.	7.899	0.29723	0.0:0.6649:0.2234:0.1118	.	435	P11926	DCOR_HUMAN	N	435	ENSP00000234111:S435N;ENSP00000385333:S435N	ENSP00000234111:S435N	S	-	2	0	ODC1	10498383	0.004000	0.15560	0.008000	0.14137	0.323000	0.28346	0.823000	0.27366	2.789000	0.95967	0.591000	0.81541	AGC		0.512	ODC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206896.2			17	103	0	0	0	1	0	17	103				
PIK3R4	30849	broad.mit.edu	37	3	130437346	130437346	+	Missense_Mutation	SNP	G	G	A	rs375991665		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:130437346G>A	ENST00000356763.3	-	8	2571	c.2014C>T	c.(2014-2016)Cgt>Tgt	p.R672C		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	672					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GCACCATAACGTATCCATAAA	0.383																																						ENST00000356763.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						c.(2014-2016)Cgt>Tgt		phosphoinositide-3-kinase, regulatory subunit 4		G	CYS/ARG	0,4406		0,0,2203	104.0	98.0	100.0		2014	5.5	1.0	3		100	1,8599	1.2+/-3.3	0,1,4299	no	missense	PIK3R4	NM_014602.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	672/1359	130437346	1,13005	2203	4300	6503	SO:0001583	missense	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130437346G>A	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.2014C>T	3.37:g.130437346G>A	ENSP00000349205:p.Arg672Cys						p.R672C	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN			8	2571	-			672					Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	c.2014C>T	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184210	0.57800	0.0	1.16E-4	ENSG00000196455	ENST00000356763;ENST00000508273;ENST00000507330;ENST00000512430	T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71	5.46	5.46	0.80206	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75140	0.3809	M	0.93328	3.405	0.80722	D	1	B	0.34399	0.452	B	0.24974	0.057	T	0.79983	-0.1573	10	0.72032	D	0.01	-15.8783	12.1653	0.54127	0.1237:0.0:0.8763:0.0	.	672	Q99570	PI3R4_HUMAN	C	672;31;31;31	ENSP00000349205:R672C;ENSP00000427302:R31C;ENSP00000424274:R31C;ENSP00000422767:R31C	ENSP00000349205:R672C	R	-	1	0	PIK3R4	131920036	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.077000	0.64419	2.562000	0.86427	0.555000	0.69702	CGT		0.383	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		21	70	0	0	0	1	0	21	70				
GRIN1	2902	broad.mit.edu	37	9	140057651	140057651	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:140057651G>A	ENST00000371561.3	+	16	3299	c.2202G>A	c.(2200-2202)gcG>gcA	p.A734A	GRIN1_ENST00000371555.4_Silent_p.A755A|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000350902.5_Silent_p.A734A|GRIN1_ENST00000371560.3_Silent_p.A755A|GRIN1_ENST00000371546.4_Silent_p.A755A|GRIN1_ENST00000371550.4_Silent_p.A734A|GRIN1_ENST00000315048.3_Silent_p.A734A|GRIN1_ENST00000371553.3_Silent_p.A755A|GRIN1_ENST00000371559.4_Silent_p.A734A	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	734					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGGACTCGGCGGTGCTGGAGT	0.667																																					NSCLC(113;717 1653 2089 20474 37618)	ENST00000371561.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(2200-2202)gcG>gcA		glutamate receptor, ionotropic, N-methyl D-aspartate 1	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						52.0	59.0	56.0					9																	140057651		2203	4300	6503	SO:0001819	synonymous_variant	2902				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding	g.chr9:140057651G>A		CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4584	protein-coding gene	gene with protein product		138249	"""N-methyl-D-aspartate receptor subunit NR1"""	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.2202G>A	9.37:g.140057651G>A						GRIN1_ENST00000371560.3_Silent_p.A755A|GRIN1_ENST00000371553.3_Silent_p.A755A|GRIN1_ENST00000371559.4_Silent_p.A734A|GRIN1_ENST00000371546.4_Silent_p.A755A|GRIN1_ENST00000371550.4_Silent_p.A734A|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000350902.5_Silent_p.A734A|GRIN1_ENST00000371555.4_Silent_p.A755A|GRIN1_ENST00000315048.3_Silent_p.A734A	p.A734A	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	16	3299	+	all_cancers(76;0.0926)		734					A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Silent	SNP	ENST00000371561.3	37	c.2202G>A	CCDS7031.1																																																																																				0.667	GRIN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055267.3	NM_007327		7	26	0	0	0	1	0	7	26				
DENND4B	9909	broad.mit.edu	37	1	153903541	153903541	+	Splice_Site	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:153903541C>A	ENST00000361217.4	-	25	4415		c.e25-1		DENND4B_ENST00000474386.1_Splice_Site	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B						positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GAGATGGGGCCTGGGGGAGCC	0.567																																						ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.e25-1		DENN/MADD domain containing 4B							25.0	28.0	27.0					1																	153903541		2027	4185	6212	SO:0001630	splice_region_variant	9909							g.chr1:153903541C>A	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.3997-1G>T	1.37:g.153903541C>A						DENND4B_ENST00000474386.1_Splice_Site		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		25	4415	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)							Q5T4K0	Splice_Site	SNP	ENST00000361217.4	37		CCDS44228.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.826001	0.32237	.	.	ENSG00000198837	ENST00000361217	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6928	0.62556	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DENND4B	152170165	1.000000	0.71417	1.000000	0.80357	0.455000	0.32408	3.337000	0.52120	2.598000	0.87819	0.460000	0.39030	.		0.567	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806	Intron	4	24	1	0	0.00909568	1	0.0092416	4	24				
ATL2	64225	broad.mit.edu	37	2	38537548	38537548	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:38537548C>T	ENST00000378954.4	-	8	847	c.846G>A	c.(844-846)aaG>aaA	p.K282K	ATL2_ENST00000419554.2_Silent_p.K282K|ATL2_ENST00000406122.1_Silent_p.K111K|ATL2_ENST00000539122.1_Silent_p.K111K|ATL2_ENST00000452935.2_Silent_p.K264K|ATL2_ENST00000546051.1_Silent_p.K111K|ATL2_ENST00000402054.1_Silent_p.K111K|ATL2_ENST00000332337.4_Silent_p.K264K	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	282	GB1/RHD3-type G.				endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						TGTGTATGTGCTTCCTTACAT	0.368																																						ENST00000378954.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(844-846)aaG>aaA		atlastin GTPase 2							159.0	141.0	147.0					2																	38537548		2203	4300	6503	SO:0001819	synonymous_variant	64225				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding	g.chr2:38537548C>T		CCDS1795.1, CCDS46260.1	2p22.3	2008-09-17	2008-09-17	2008-09-17	ENSG00000119787	ENSG00000119787			24047	protein-coding gene	gene with protein product		609368	"""ADP-ribosylation factor-like 6 interacting protein 2"""	ARL6IP2		10508919, 18270207	Standard	NM_022374		Approved		uc002rqq.3	Q8NHH9	OTTHUMG00000102074	ENST00000378954.4:c.846G>A	2.37:g.38537548C>T						ATL2_ENST00000452935.2_Silent_p.K264K|ATL2_ENST00000419554.2_Silent_p.K282K|ATL2_ENST00000402054.1_Silent_p.K111K|ATL2_ENST00000539122.1_Silent_p.K111K|ATL2_ENST00000406122.1_Silent_p.K111K|ATL2_ENST00000332337.4_Silent_p.K264K|ATL2_ENST00000546051.1_Silent_p.K111K	p.K282K	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN			8	847	-			282					B7Z1X2|B7Z7X8|Q4ZG30|Q7Z630|Q8NHH8|Q9H5M7	Silent	SNP	ENST00000378954.4	37	c.846G>A	CCDS46260.1	.	.	.	.	.	.	.	.	.	.	C	9.106	1.005355	0.19199	.	.	ENSG00000119787	ENST00000443098	.	.	.	5.11	2.23	0.28157	.	.	.	.	.	T	0.54759	0.1878	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46442	-0.9191	4	.	.	.	-19.2893	6.9978	0.24793	0.1393:0.7095:0.0:0.1512	.	.	.	.	N	201	.	.	S	-	2	0	ATL2	38391052	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.613000	0.36900	0.558000	0.29135	-0.259000	0.10710	AGC		0.368	ATL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219886.2	NM_022374		13	64	0	0	0	1	0	13	64				
NCOR1	9611	broad.mit.edu	37	17	16024504	16024504	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:16024504G>A	ENST00000268712.3	-	16	1971	c.1714C>T	c.(1714-1716)Cga>Tga	p.R572*	NCOR1_ENST00000583226.1_5'UTR|NCOR1_ENST00000395848.1_Nonsense_Mutation_p.R463*|NCOR1_ENST00000395851.1_Nonsense_Mutation_p.R572*	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	572					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GCAGTCTTTCGCCCCCGGGGT	0.542																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(1714-1716)Cga>Tga		nuclear receptor corepressor 1							84.0	88.0	86.0					17																	16024504		2203	4300	6503	SO:0001587	stop_gained	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:16024504G>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.1714C>T	17.37:g.16024504G>A	ENSP00000268712:p.Arg572*					NCOR1_ENST00000583226.1_5'UTR|NCOR1_ENST00000395851.1_Nonsense_Mutation_p.R572*|NCOR1_ENST00000395848.1_Nonsense_Mutation_p.R463*	p.R572*	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	16	1971	-			572					B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Nonsense_Mutation	SNP	ENST00000268712.3	37	c.1714C>T	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	39	7.373871	0.98245	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395848	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2135	18.8353	0.92159	0.0:0.0:1.0:0.0	.	.	.	.	X	572;572;463;463	.	ENSP00000268712:R572X	R	-	1	2	NCOR1	15965229	1.000000	0.71417	0.951000	0.38953	0.998000	0.95712	5.049000	0.64244	2.688000	0.91661	0.655000	0.94253	CGA		0.542	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		38	156	0	0	0	1	0	38	156				
SLC30A8	169026	broad.mit.edu	37	8	118170065	118170065	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:118170065C>T	ENST00000456015.2	+	4	554	c.554C>T	c.(553-555)gCa>gTa	p.A185V	SLC30A8_ENST00000519688.1_Missense_Mutation_p.A136V|SLC30A8_ENST00000521243.1_Missense_Mutation_p.A136V|SLC30A8_ENST00000427715.2_Missense_Mutation_p.A136V	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	185					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TCCAGCTGCGCAGTGGCGGCC	0.527																																					Ovarian(162;1202 1922 6011 16223 52092)	ENST00000427715.2																			0				breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41						c.(406-408)gCa>gTa		solute carrier family 30 (zinc transporter), member 8							192.0	160.0	171.0					8																	118170065		2203	4300	6503	SO:0001583	missense	169026				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	g.chr8:118170065C>T		CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"""Solute carriers"""	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.554C>T	8.37:g.118170065C>T	ENSP00000415011:p.Ala185Val					SLC30A8_ENST00000519688.1_Missense_Mutation_p.A136V|SLC30A8_ENST00000521243.1_Missense_Mutation_p.A136V|SLC30A8_ENST00000456015.2_Missense_Mutation_p.A185V	p.A136V	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	STAD - Stomach adenocarcinoma(47;0.203)		7	841	+	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		185					A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation	SNP	ENST00000456015.2	37	c.407C>T	CCDS6322.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607068	0.66558	.	.	ENSG00000164756	ENST00000521243;ENST00000427715;ENST00000519688;ENST00000456015	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.77	3.83	0.44106	.	0.104565	0.64402	D	0.000004	T	0.80465	0.4628	M	0.82823	2.61	0.80722	D	1	D	0.67145	0.996	D	0.72625	0.978	T	0.82230	-0.0560	10	0.87932	D	0	-4.4463	10.8056	0.46516	0.0:0.7969:0.1306:0.0725	.	185	Q8IWU4	ZNT8_HUMAN	V	136;136;136;185	ENSP00000428545:A136V;ENSP00000407505:A136V;ENSP00000431069:A136V;ENSP00000415011:A185V	ENSP00000407505:A136V	A	+	2	0	SLC30A8	118239246	1.000000	0.71417	0.907000	0.35723	0.118000	0.20060	4.927000	0.63440	2.722000	0.93159	0.655000	0.94253	GCA		0.527	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851		9	171	0	0	0	1	0	9	171				
ZSCAN20	7579	broad.mit.edu	37	1	33954220	33954220	+	Silent	SNP	C	C	T	rs146912787	byFrequency	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:33954220C>T	ENST00000361328.3	+	3	726	c.573C>T	c.(571-573)gcC>gcT	p.A191A	ZSCAN20_ENST00000373413.2_Silent_p.A191A|ZSCAN20_ENST00000480917.1_3'UTR	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	191					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				ACCTAAATGCCGAGGTGGCAC	0.557													C|||	2	0.000399361	0.0015	0.0	5008	,	,		22999	0.0		0.0	False		,,,				2504	0.0					ENST00000361328.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31						c.(571-573)gcC>gcT		zinc finger and SCAN domain containing 20		C		1,3989		0,1,1994	72.0	71.0	71.0		573	2.7	0.4	1	dbSNP_134	71	1,8325		0,1,4162	no	coding-synonymous	ZSCAN20	NM_145238.3		0,2,6156	TT,TC,CC		0.012,0.0251,0.0162		191/1044	33954220	2,12314	1995	4163	6158	SO:0001819	synonymous_variant	7579				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:33954220C>T	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.573C>T	1.37:g.33954220C>T						ZSCAN20_ENST00000480917.1_3'UTR|ZSCAN20_ENST00000373413.2_Silent_p.A191A	p.A191A	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN			3	726	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	191					A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Silent	SNP	ENST00000361328.3	37	c.573C>T	CCDS41300.1																																																																																				0.557	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		10	31	0	0	0	1	0	10	31				
HYAL4	23553	broad.mit.edu	37	7	123508423	123508423	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:123508423C>T	ENST00000223026.4	+	3	734	c.96C>T	c.(94-96)atC>atT	p.I32I	HYAL4_ENST00000476325.1_Silent_p.I32I	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	32					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|glycosaminoglycan catabolic process (GO:0006027)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	hyalurononglucosaminidase activity (GO:0004415)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TAAAGTCTATCTCTTGTCTAA	0.328																																						ENST00000223026.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(94-96)atC>atT		hyaluronoglucosaminidase 4							101.0	110.0	107.0					7																	123508423		2202	4300	6502	SO:0001819	synonymous_variant	23553				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity	g.chr7:123508423C>T	AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302			5323	protein-coding gene	gene with protein product	"""hyaluronidase 4"""	604510				10493834	Standard	NM_012269		Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.96C>T	7.37:g.123508423C>T						HYAL4_ENST00000476325.1_Silent_p.I32I	p.I32I	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN			3	734	+			32					D0VXG1|Q9UL99|Q9Y6T9	Silent	SNP	ENST00000223026.4	37	c.96C>T	CCDS5789.1																																																																																				0.328	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348545.1	NM_012269		37	83	0	0	0	1	0	37	83				
PAPSS1	9061	broad.mit.edu	37	4	108566103	108566103	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:108566103A>G	ENST00000265174.4	-	10	1633	c.1361T>C	c.(1360-1362)cTg>cCg	p.L454P		NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	454					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		CCAGCCACCCAGAGGGTGGAG	0.547																																						ENST00000265174.4																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16						c.(1360-1362)cTg>cCg		3'-phosphoadenosine 5'-phosphosulfate synthase 1							100.0	96.0	97.0					4																	108566103		2203	4300	6503	SO:0001583	missense	9061				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity	g.chr4:108566103A>G	Y10387	CCDS3676.1	4q24	2012-07-13			ENSG00000138801	ENSG00000138801	2.7.7.4, 2.7.1.25		8603	protein-coding gene	gene with protein product		603262				9576487, 9771708	Standard	NM_005443		Approved	ATPSK1, PAPSS	uc003hyk.3	O43252	OTTHUMG00000131210	ENST00000265174.4:c.1361T>C	4.37:g.108566103A>G	ENSP00000265174:p.Leu454Pro						p.L454P	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)	10	1633	-		Hepatocellular(203;0.217)	454					O43841|O75332|Q96FB1|Q96TF4|Q9P1P9|Q9UE98	Missense_Mutation	SNP	ENST00000265174.4	37	c.1361T>C	CCDS3676.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.271937	0.80469	.	.	ENSG00000138801	ENST00000265174	T	0.41758	0.99	5.22	5.22	0.72569	Sulphate adenylyltransferase (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.78868	0.4351	H	0.98738	4.315	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87820	0.2637	10	0.87932	D	0	-16.5886	15.1269	0.72489	1.0:0.0:0.0:0.0	.	454	O43252	PAPS1_HUMAN	P	454	ENSP00000265174:L454P	ENSP00000265174:L454P	L	-	2	0	PAPSS1	108785552	1.000000	0.71417	0.968000	0.41197	0.993000	0.82548	8.753000	0.91637	1.972000	0.57404	0.377000	0.23210	CTG		0.547	PAPSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253946.2			6	49	0	0	0	1	0	6	49				
SFMBT1	51460	broad.mit.edu	37	3	52940182	52940182	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:52940182G>A	ENST00000394752.3	-	20	2789	c.2407C>T	c.(2407-2409)Cgg>Tgg	p.R803W	SFMBT1_ENST00000296295.6_Intron|SFMBT1_ENST00000394750.1_Missense_Mutation_p.R803W|SFMBT1_ENST00000358080.2_Missense_Mutation_p.R803W	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	803	SAM.				cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		CTGATGAACCGCACAACGTCT	0.418																																						ENST00000394752.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24						c.(2407-2409)Cgg>Tgg		Scm-like with four mbt domains 1							149.0	129.0	136.0					3																	52940182		2203	4300	6503	SO:0001583	missense	51460				regulation of transcription, DNA-dependent	nucleus		g.chr3:52940182G>A	AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"""Sterile alpha motif (SAM) domain containing"""	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.2407C>T	3.37:g.52940182G>A	ENSP00000378235:p.Arg803Trp					SFMBT1_ENST00000394750.1_Missense_Mutation_p.R803W|SFMBT1_ENST00000358080.2_Missense_Mutation_p.R803W|SFMBT1_ENST00000296295.6_Intron	p.R803W	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)	20	2789	-			803			SAM.		Q402F7|Q96C73|Q9Y4Q9	Missense_Mutation	SNP	ENST00000394752.3	37	c.2407C>T	CCDS2867.1	.	.	.	.	.	.	.	.	.	.	G	34	5.412970	0.96072	.	.	ENSG00000163935	ENST00000394752;ENST00000358080;ENST00000394750	T;T;T	0.50813	0.73;0.73;0.73	5.85	5.85	0.93711	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.64549	0.2608	L	0.45352	1.415	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.64816	-0.6318	10	0.87932	D	0	.	20.1649	0.98147	0.0:0.0:1.0:0.0	.	803	Q9UHJ3	SMBT1_HUMAN	W	803	ENSP00000378235:R803W;ENSP00000350789:R803W;ENSP00000378233:R803W	ENSP00000350789:R803W	R	-	1	2	SFMBT1	52915222	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	6.624000	0.74243	2.753000	0.94483	0.655000	0.94253	CGG		0.418	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353040.3	NM_016329		4	77	0	0	0	1	0	4	77				
CUEDC1	404093	broad.mit.edu	37	17	55950170	55950170	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:55950170G>A	ENST00000577830.1	-	5	1051	c.638C>T	c.(637-639)cCt>cTt	p.P213L	CUEDC1_ENST00000360238.2_Missense_Mutation_p.P213L|CUEDC1_ENST00000577840.1_Missense_Mutation_p.P76L|CUEDC1_ENST00000578357.1_5'Flank|CUEDC1_ENST00000407144.2_Missense_Mutation_p.P213L	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	213										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						AGCCATGGCAGGTGGACATCC	0.607																																						ENST00000577830.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(637-639)cCt>cTt		CUE domain containing 1							68.0	64.0	66.0					17																	55950170		2203	4300	6503	SO:0001583	missense	404093							g.chr17:55950170G>A	AK000746	CCDS11599.1	17q23.2	2004-03-16				ENSG00000180891			31350	protein-coding gene	gene with protein product							Standard	NM_001271875		Approved		uc002ive.2	Q9NWM3		ENST00000577830.1:c.638C>T	17.37:g.55950170G>A	ENSP00000462717:p.Pro213Leu					CUEDC1_ENST00000577840.1_Missense_Mutation_p.P76L|CUEDC1_ENST00000360238.2_Missense_Mutation_p.P213L|CUEDC1_ENST00000407144.2_Missense_Mutation_p.P213L	p.P213L	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN			5	1051	-			213					D3DTZ2|Q9NWD0	Missense_Mutation	SNP	ENST00000577830.1	37	c.638C>T	CCDS11599.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642845	0.47153	.	.	ENSG00000180891	ENST00000407144;ENST00000360238	T;T	0.24350	1.86;1.86	4.9	3.9	0.45041	.	0.361069	0.28908	N	0.013757	T	0.22475	0.0542	L	0.43152	1.355	0.09310	N	0.999999	B	0.25955	0.138	B	0.28139	0.086	T	0.15492	-1.0435	10	0.42905	T	0.14	-5.4513	10.2639	0.43443	0.0:0.0:0.802:0.198	.	213	Q9NWM3	CUED1_HUMAN	L	213	ENSP00000384712:P213L;ENSP00000353373:P213L	ENSP00000353373:P213L	P	-	2	0	CUEDC1	53305169	0.118000	0.22208	0.001000	0.08648	0.010000	0.07245	0.000000	0.12993	1.011000	0.39340	0.655000	0.94253	CCT		0.607	CUEDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443305.1	NM_017949		26	81	0	0	0	1	0	26	81				
IL7R	3575	broad.mit.edu	37	5	35876380	35876380	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:35876380G>T	ENST00000303115.3	+	8	1301	c.1172G>T	c.(1171-1173)aGg>aTg	p.R391M	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	391					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CTAGACTGCAGGGAGAGTGGC	0.542			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																															ENST00000303115.3				Dom	yes		5	5p13	146661	"""Mis, O"""	interleukin 7 receptor	yes	Severe combined immune deficiency	L			"""ALL, ETP ALL"""		0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126						c.(1171-1173)aGg>aTg		interleukin 7 receptor							95.0	85.0	88.0					5																	35876380		2203	4300	6503	SO:0001583	missense	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35876380G>T	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.1172G>T	5.37:g.35876380G>T	ENSP00000306157:p.Arg391Met					IL7R_ENST00000343305.4_3'UTR	p.R391M	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		8	1301	+	all_lung(31;0.00015)		391					B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	37	c.1172G>T	CCDS3911.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.396621	0.25205	.	.	ENSG00000168685	ENST00000303115;ENST00000505875	T;T	0.37915	1.8;1.17	5.34	1.04	0.20106	.	2.129880	0.01309	N	0.010560	T	0.45155	0.1328	M	0.62723	1.935	0.09310	N	0.999999	D	0.60160	0.987	P	0.51355	0.667	T	0.20505	-1.0273	10	0.59425	D	0.04	-16.7848	2.9839	0.05962	0.3196:0.0:0.4856:0.1949	.	391	P16871	IL7RA_HUMAN	M	391;157	ENSP00000306157:R391M;ENSP00000420923:R157M	ENSP00000306157:R391M	R	+	2	0	IL7R	35912137	0.001000	0.12720	0.001000	0.08648	0.030000	0.12068	0.378000	0.20569	0.630000	0.30394	0.467000	0.42956	AGG		0.542	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			7	74	1	0	8.12818e-05	1	8.65993e-05	7	74				
SHH	6469	broad.mit.edu	37	7	155595700	155595700	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:155595700G>A	ENST00000297261.2	-	3	1433	c.1283C>T	c.(1282-1284)gCc>gTc	p.A428V		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	428					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|artery development (GO:0060840)|axon guidance (GO:0007411)|Bergmann glial cell differentiation (GO:0060020)|blood coagulation (GO:0007596)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bud outgrowth involved in lung branching (GO:0060447)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway (GO:0060070)|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)|cell development (GO:0048468)|cell fate specification (GO:0001708)|cell-cell signaling (GO:0007267)|cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|cerebellar granule cell precursor proliferation (GO:0021930)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|dorsal/ventral neural tube patterning (GO:0021904)|dorsal/ventral pattern formation (GO:0009953)|ectoderm development (GO:0007398)|embryo development (GO:0009790)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal system development (GO:0048706)|endocytosis (GO:0006897)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|establishment of cell polarity (GO:0030010)|forebrain development (GO:0030900)|formation of anatomical boundary (GO:0048859)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|hindgut morphogenesis (GO:0007442)|inner ear development (GO:0048839)|intein-mediated protein splicing (GO:0016539)|intermediate filament organization (GO:0045109)|left lung development (GO:0060459)|limb bud formation (GO:0060174)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|lymphoid progenitor cell differentiation (GO:0002320)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal smoothened signaling pathway involved in prostate gland development (GO:0060783)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephros development (GO:0001656)|midbrain development (GO:0030901)|multicellular structure septum development (GO:0080125)|myoblast differentiation (GO:0045445)|myotube differentiation (GO:0014902)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of kidney smooth muscle cell differentiation (GO:2000357)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ureter smooth muscle cell differentiation (GO:2000062)|negative thymic T cell selection (GO:0045060)|neural crest cell migration (GO:0001755)|neuroblast proliferation (GO:0007405)|neuron fate commitment (GO:0048663)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|organ formation (GO:0048645)|osteoblast development (GO:0002076)|palate development (GO:0060021)|pancreas development (GO:0031016)|pattern specification process (GO:0007389)|patterning of blood vessels (GO:0001569)|polarity specification of anterior/posterior axis (GO:0009949)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of kidney smooth muscle cell differentiation (GO:2000358)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sclerotome development (GO:0061189)|positive regulation of skeletal muscle cell proliferation (GO:0014858)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureter smooth muscle cell differentiation (GO:2000063)|positive regulation of Wnt signaling pathway (GO:0030177)|positive thymic T cell selection (GO:0045059)|primary prostatic bud elongation (GO:0060516)|prostate epithelial cord elongation (GO:0060523)|prostate gland development (GO:0030850)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|regulation of mesenchymal cell proliferation involved in prostate gland development (GO:0060782)|regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900175)|regulation of odontogenesis (GO:0042481)|regulation of prostatic bud formation (GO:0060685)|regulation of protein localization to nucleus (GO:1900180)|regulation of proteolysis (GO:0030162)|renal system development (GO:0072001)|right lung development (GO:0060458)|salivary gland cavitation (GO:0060662)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|somite development (GO:0061053)|spinal cord dorsal/ventral patterning (GO:0021513)|spinal cord motor neuron differentiation (GO:0021522)|stem cell development (GO:0048864)|striated muscle tissue development (GO:0014706)|T cell differentiation in thymus (GO:0033077)|telencephalon regionalization (GO:0021978)|thalamus development (GO:0021794)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|trachea morphogenesis (GO:0060439)|vasculogenesis (GO:0001570)|ventral midline development (GO:0007418)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|laminin-1 binding (GO:0043237)|morphogen activity (GO:0016015)|patched binding (GO:0005113)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCCGCGGTGGCCCCCGCACC	0.736																																						ENST00000297261.2																			0				central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1282-1284)gCc>gTc		sonic hedgehog							9.0	10.0	10.0					7																	155595700		1632	3471	5103	SO:0001583	missense	6469				androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding	g.chr7:155595700G>A		CCDS5942.1	7q36	2010-06-25	2010-06-25		ENSG00000164690	ENSG00000164690			10848	protein-coding gene	gene with protein product		600725	"""sonic hedgehog (Drosophila) homolog"", ""sonic hedgehog homolog (Drosophila)"""	HPE3, HLP3		7590746	Standard	NM_000193		Approved	HHG1, SMMCI, TPT, TPTPS, MCOPCB5	uc003wmk.1	Q15465	OTTHUMG00000151349	ENST00000297261.2:c.1283C>T	7.37:g.155595700G>A	ENSP00000297261:p.Ala428Val						p.A428V	NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1433	-	all_neural(206;0.101)	all_hematologic(28;0.0592)	428					A4D247|Q75MC9	Missense_Mutation	SNP	ENST00000297261.2	37	c.1283C>T	CCDS5942.1	.	.	.	.	.	.	.	.	.	.	G	8.036	0.762801	0.15914	.	.	ENSG00000164690	ENST00000297261	D	0.99277	-5.67	2.73	2.73	0.32206	Peptidase C46, hedgehog protein, hint region (1);	1.706660	0.03291	N	0.187556	D	0.97788	0.9274	L	0.48642	1.525	0.21950	N	0.999453	B;B	0.26002	0.059;0.139	B;B	0.25506	0.038;0.061	D	0.94101	0.7362	10	0.20046	T	0.44	.	8.6823	0.34216	0.0:0.0:1.0:0.0	.	428;431	Q15465;D9ZGF9	SHH_HUMAN;.	V	428	ENSP00000297261:A428V	ENSP00000297261:A428V	A	-	2	0	SHH	155288461	0.718000	0.27976	0.132000	0.22025	0.563000	0.35712	0.755000	0.26405	1.324000	0.45282	0.313000	0.20887	GCC		0.736	SHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322327.1	NM_000193		7	15	0	0	0	1	0	7	15				
FANCL	55120	broad.mit.edu	37	2	58388752	58388752	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:58388752T>C	ENST00000233741.4	-	12	961	c.925A>G	c.(925-927)Att>Gtt	p.I309V	FANCL_ENST00000402135.3_Missense_Mutation_p.I314V|FANCL_ENST00000403295.3_Missense_Mutation_p.I281V|FANCL_ENST00000403676.1_Missense_Mutation_p.I192V	NM_018062.3	NP_060532.2	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L	309					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|gamete generation (GO:0007276)|protein monoubiquitination (GO:0006513)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						GCATAACAAATTCCACAATCC	0.338								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000402135.3																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						c.(940-942)Att>Gtt	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group L							85.0	85.0	85.0					2																	58388752		2202	4299	6501	SO:0001583	missense	55120	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:58388752T>C	AK001197	CCDS1860.1, CCDS46294.1	2p16.1	2014-09-17	2003-10-14	2003-10-15	ENSG00000115392	ENSG00000115392		"""Zinc fingers, PHD-type"", ""Fanconi anemia, complementation groups"""	20748	protein-coding gene	gene with protein product		608111	"""PHD finger protein 9"""	PHF9			Standard	NM_018062		Approved	FLJ10335, FAAP43, Pog	uc002rzx.4	Q9NW38	OTTHUMG00000129349	ENST00000233741.4:c.925A>G	2.37:g.58388752T>C	ENSP00000233741:p.Ile309Val					FANCL_ENST00000233741.4_Missense_Mutation_p.I309V|FANCL_ENST00000403295.3_Missense_Mutation_p.I281V|FANCL_ENST00000403676.1_Missense_Mutation_p.I192V	p.I314V	NM_001114636.1	NP_001108108.1	Q9NW38	FANCL_HUMAN			12	976	-			309					Q6GU60	Missense_Mutation	SNP	ENST00000233741.4	37	c.940A>G	CCDS1860.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.794073	0.90453	.	.	ENSG00000115392	ENST00000403295;ENST00000233741;ENST00000402135;ENST00000403676;ENST00000449070	T;T;T;T;T	0.77098	-0.02;-1.07;-1.07;-0.08;-0.14	5.91	5.91	0.95273	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);	0.000000	0.85682	D	0.000000	D	0.87873	0.6287	M	0.77616	2.38	0.80722	D	1	D;D;D;D	0.69078	0.994;0.997;0.991;0.985	D;D;P;P	0.68943	0.939;0.961;0.861;0.883	D	0.89266	0.3601	10	0.87932	D	0	-7.5583	16.3469	0.83138	0.0:0.0:0.0:1.0	.	250;281;314;309	C9JZA9;B5MC31;Q9NW38-2;Q9NW38	.;.;.;FANCL_HUMAN	V	281;309;314;192;250	ENSP00000386097:I281V;ENSP00000233741:I309V;ENSP00000385021:I314V;ENSP00000384046:I192V;ENSP00000401280:I250V	ENSP00000233741:I309V	I	-	1	0	FANCL	58242256	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.609000	0.82925	2.263000	0.75096	0.528000	0.53228	ATT		0.338	FANCL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251497.1	NM_018062		30	54	0	0	0	1	0	30	54				
PALB2	79728	broad.mit.edu	37	16	23647099	23647099	+	Silent	SNP	G	G	A	rs45487491		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:23647099G>A	ENST00000261584.4	-	4	920	c.768C>T	c.(766-768)agC>agT	p.S256S		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	256	DNA-binding (with the preference D loop > dsDNA > ssDNA).|Interaction with BRCA1.				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		GACTACTACCGCTATCTGATA	0.418			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																														ENST00000261584.4			yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	"""F, N, Mis"""	partner and localizer of BRCA2			"""L, O, E"""		"""Wilms tumor, medulloblastoma, AML ,breast"""			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(766-768)agC>agT	Involved in tolerance or repair of DNA crosslinks	partner and localizer of BRCA2							135.0	138.0	137.0					16																	23647099		2197	4300	6497	SO:0001819	synonymous_variant	79728				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	g.chr16:23647099G>A		CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.768C>T	16.37:g.23647099G>A							p.S256S	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN		GBM - Glioblastoma multiforme(48;0.0167)	4	920	-			256			Interaction with BRCA1.		A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Silent	SNP	ENST00000261584.4	37	c.768C>T	CCDS32406.1																																																																																				0.418	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		56	228	0	0	0	1	0	56	228				
CHRNE	1145	broad.mit.edu	37	17	4802766	4802766	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:4802766G>A	ENST00000293780.4	-	9	1039	c.1029C>T	c.(1027-1029)cgC>cgT	p.R343R	C17orf107_ENST00000381365.3_5'Flank|CHRNE_ENST00000575637.1_5'Flank|C17orf107_ENST00000521575.1_5'UTR	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	343					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	CGCTTACGTGGCGCAGCCGCG	0.677																																						ENST00000293780.4																			0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12						c.(1027-1029)cgC>cgT		cholinergic receptor, nicotinic, epsilon (muscle)							22.0	16.0	18.0					17																	4802766		2196	4295	6491	SO:0001819	synonymous_variant	1145				muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr17:4802766G>A	X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1966	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, epsilon (muscle)"""	100725	"""cholinergic receptor, nicotinic, epsilon"""			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778	ENST00000293780.4:c.1029C>T	17.37:g.4802766G>A						C17orf107_ENST00000521575.1_5'UTR	p.R343R	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN			9	1039	-			343					D3DTK6	Silent	SNP	ENST00000293780.4	37	c.1029C>T	CCDS11058.1																																																																																				0.677	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207560.3			6	4	0	0	0	1	0	6	4				
SHC3	53358	broad.mit.edu	37	9	91686146	91686146	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:91686146G>A	ENST00000375835.4	-	5	1057	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	251	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|insulin receptor signaling pathway (GO:0008286)|learning or memory (GO:0007611)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	signal transducer activity (GO:0004871)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						GAGATGGACCGCATGTGGTGA	0.507																																						ENST00000375835.4																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						c.(751-753)Cgg>Tgg		SHC (Src homology 2 domain containing) transforming protein 3							100.0	82.0	88.0					9																	91686146		2203	4300	6503	SO:0001583	missense	53358				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity	g.chr9:91686146G>A	D84361	CCDS6681.1	9q22.1	2013-02-14	2005-05-24		ENSG00000148082	ENSG00000148082		"""SH2 domain containing"""	18181	protein-coding gene	gene with protein product		605263	"""src homology 2 domain containing transforming protein C3"""			8808684	Standard	NM_016848		Approved	N-Shc, NSHC, SHCC	uc004aqf.2	Q92529	OTTHUMG00000020179	ENST00000375835.4:c.751C>T	9.37:g.91686146G>A	ENSP00000364995:p.Arg251Trp					SHC3_ENST00000375830.1_5'UTR	p.R251W	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN			5	1057	-			251			PID.		Q5T7I7|Q8TAP2|Q9UCX5	Missense_Mutation	SNP	ENST00000375835.4	37	c.751C>T	CCDS6681.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531542	0.85706	.	.	ENSG00000148082	ENST00000375835	T	0.23147	1.92	4.85	3.94	0.45596	Phosphotyrosine interaction (PID/PI) (1);Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.119263	0.64402	D	0.000019	T	0.32315	0.0825	L	0.43152	1.355	0.80722	D	1	D	0.57571	0.98	P	0.51453	0.67	T	0.11542	-1.0583	10	0.87932	D	0	-31.8156	13.45	0.61165	0.0:0.0:0.8417:0.1583	.	251	Q92529	SHC3_HUMAN	W	251	ENSP00000364995:R251W	ENSP00000364995:R251W	R	-	1	2	SHC3	90875966	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.703000	0.74633	1.248000	0.43934	-0.182000	0.12963	CGG		0.507	SHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052986.1	NM_016848		29	8	0	0	0	1	0	29	8				
TRIM3	10612	broad.mit.edu	37	11	6477356	6477356	+	Silent	SNP	G	G	A	rs371131254		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:6477356G>A	ENST00000525074.1	-	7	1873	c.1479C>T	c.(1477-1479)tcC>tcT	p.S493S	TRIM3_ENST00000537602.1_Silent_p.S415S|TRIM3_ENST00000345851.3_Silent_p.S493S|TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000536344.1_Silent_p.S374S|TRIM3_ENST00000359518.3_Silent_p.S493S	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	493					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCTGGCTGCGGACACACCTT	0.493																																					Melanoma(6;5 510 1540 25169 29084)	ENST00000525074.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27						c.(1477-1479)tcC>tcT		tripartite motif containing 3		G	,	0,4402		0,0,2201	124.0	112.0	116.0		1479,1479	-11.1	0.6	11		116	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous,coding-synonymous	TRIM3	NM_006458.2,NM_033278.2	,	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	,	493/745,493/745	6477356	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6477356G>A	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10064	protein-coding gene	gene with protein product	"""ring finger protein 22"", ""brain expressed ring finger"", ""tripartite motif protein TRIM3"""	605493	"""tripartite motif-containing 3"""	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.1479C>T	11.37:g.6477356G>A						TRIM3_ENST00000345851.3_Silent_p.S493S|TRIM3_ENST00000537602.1_Silent_p.S415S|TRIM3_ENST00000359518.3_Silent_p.S493S|TRIM3_ENST00000536344.1_Silent_p.S374S|TRIM3_ENST00000529058.1_5'UTR	p.S493S	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	7	1873	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	493					B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Silent	SNP	ENST00000525074.1	37	c.1479C>T	CCDS7764.1																																																																																				0.493	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		16	75	0	0	0	1	0	16	75				
ILF3	3609	broad.mit.edu	37	19	10789317	10789317	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:10789317C>T	ENST00000590261.1	+	5	588	c.588C>T	c.(586-588)gaC>gaT	p.D196D	ILF3_ENST00000318511.3_Silent_p.D196D|ILF3_ENST00000592763.1_Silent_p.D196D|ILF3_ENST00000250241.8_Silent_p.D196D|ILF3_ENST00000449870.1_Silent_p.D196D|ILF3_ENST00000588657.1_Silent_p.D196D|ILF3_ENST00000420083.1_Silent_p.D196D|ILF3_ENST00000589998.1_Silent_p.D196D|ILF3_ENST00000407004.3_Silent_p.D196D			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	196	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			ACCCCCCGGACGTTCTGGACA	0.498																																						ENST00000449870.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(586-588)gaC>gaT		interleukin enhancer binding factor 3, 90kDa							100.0	86.0	91.0					19																	10789317		2203	4300	6503	SO:0001819	synonymous_variant	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10789317C>T	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.588C>T	19.37:g.10789317C>T						ILF3_ENST00000588657.1_Silent_p.D196D|ILF3_ENST00000589998.1_Silent_p.D196D|ILF3_ENST00000407004.3_Silent_p.D196D|ILF3_ENST00000318511.3_Silent_p.D196D|ILF3_ENST00000250241.8_Silent_p.D196D|ILF3_ENST00000590261.1_Silent_p.D196D|ILF3_ENST00000420083.1_Silent_p.D196D|ILF3_ENST00000592763.1_Silent_p.D196D	p.D196D	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		6	905	+			196			DZF.		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Silent	SNP	ENST00000590261.1	37	c.588C>T	CCDS12246.1																																																																																				0.498	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			29	73	0	0	0	1	0	29	73				
GRIN2D	2906	broad.mit.edu	37	19	48922967	48922967	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:48922967G>A	ENST00000263269.3	+	9	2075	c.1987G>A	c.(1987-1989)Gcc>Acc	p.A663T		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	663					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCTGGTGTGGGCCTTCTTCGC	0.587																																						ENST00000263269.3																			0				autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37						c.(1987-1989)Gcc>Acc		glutamate receptor, ionotropic, N-methyl D-aspartate 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						129.0	116.0	120.0					19																	48922967		2203	4300	6503	SO:0001583	missense	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48922967G>A	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.1987G>A	19.37:g.48922967G>A	ENSP00000263269:p.Ala663Thr						p.A663T	NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	9	2075	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	663						Missense_Mutation	SNP	ENST00000263269.3	37	c.1987G>A	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	G	35	5.433215	0.96150	.	.	ENSG00000105464	ENST00000263269	T	0.54675	0.56	4.57	4.57	0.56435	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.76219	0.3957	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81337	-0.0978	10	0.87932	D	0	.	16.6521	0.85219	0.0:0.0:1.0:0.0	.	663	O15399	NMDE4_HUMAN	T	663	ENSP00000263269:A663T	ENSP00000263269:A663T	A	+	1	0	GRIN2D	53614779	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.587000	0.98229	2.543000	0.85770	0.643000	0.83706	GCC		0.587	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			42	149	0	0	0	1	0	42	149				
COL24A1	255631	broad.mit.edu	37	1	86210351	86210351	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:86210351T>C	ENST00000370571.2	-	57	5036	c.4670A>G	c.(4669-4671)gAt>gGt	p.D1557G	COL24A1_ENST00000436319.1_Missense_Mutation_p.D1536G	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1557	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GAACTTACCATCTGATACTTT	0.358																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(4669-4671)gAt>gGt		collagen, type XXIV, alpha 1							138.0	128.0	131.0					1																	86210351		1849	4090	5939	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86210351T>C	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.4670A>G	1.37:g.86210351T>C	ENSP00000359603:p.Asp1557Gly					COL24A1_ENST00000436319.1_Missense_Mutation_p.D1536G	p.D1557G	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	57	5036	-			1557			Fibrillar collagen NC1.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.4670A>G	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	T	17.83	3.486108	0.63962	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.75477	-0.94;-0.94	5.29	5.29	0.74685	Fibrillar collagen, C-terminal (3);	0.000000	0.36167	N	0.002744	D	0.87811	0.6271	M	0.93939	3.475	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.78314	0.973;0.991	D	0.90873	0.4747	10	0.66056	D	0.02	.	15.5221	0.75874	0.0:0.0:0.0:1.0	.	1557;1536	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	G	1557;1536	ENSP00000359603:D1557G;ENSP00000392531:D1536G	ENSP00000359603:D1557G	D	-	2	0	COL24A1	85982939	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.655000	0.83696	2.128000	0.65567	0.460000	0.39030	GAT		0.358	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		11	134	0	0	0	1	0	11	134				
NARS2	79731	broad.mit.edu	37	11	78204128	78204128	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:78204128C>T	ENST00000281038.5	-	7	1178	c.803G>A	c.(802-804)aGc>aAc	p.S268N	NARS2_ENST00000528850.1_Missense_Mutation_p.S41N	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	268					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	ATCTTGAAGGCTGTCAACAAA	0.393																																						ENST00000281038.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27						c.(802-804)aGc>aAc		asparaginyl-tRNA synthetase 2, mitochondrial (putative)	L-Asparagine(DB00174)						80.0	84.0	83.0					11																	78204128		2200	4292	6492	SO:0001583	missense	79731				asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding	g.chr11:78204128C>T	BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	26274	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 2, mitochondrial (putative)"""	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.803G>A	11.37:g.78204128C>T	ENSP00000281038:p.Ser268Asn					NARS2_ENST00000528850.1_Missense_Mutation_p.S41N	p.S268N	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN			7	1178	-	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)		268					G3V178	Missense_Mutation	SNP	ENST00000281038.5	37	c.803G>A	CCDS8261.1	.	.	.	.	.	.	.	.	.	.	C	7.345	0.621774	0.14193	.	.	ENSG00000137513	ENST00000281038;ENST00000528850	D;D	0.83914	-1.78;-1.78	5.55	0.401	0.16338	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.207947	0.52532	N	0.000076	T	0.68988	0.3061	L	0.33485	1.01	0.42150	D	0.991556	B	0.14438	0.01	B	0.15870	0.014	T	0.52975	-0.8503	10	0.36615	T	0.2	-0.9018	5.2721	0.15630	0.0:0.5505:0.1376:0.3119	.	268	Q96I59	SYNM_HUMAN	N	268;41	ENSP00000281038:S268N;ENSP00000432635:S41N	ENSP00000281038:S268N	S	-	2	0	NARS2	77881776	0.998000	0.40836	0.496000	0.27539	0.633000	0.38033	0.443000	0.21644	-0.179000	0.10654	0.650000	0.86243	AGC		0.393	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391138.2	NM_024678		20	72	0	0	0	1	0	20	72				
CUL7	9820	broad.mit.edu	37	6	43006186	43006186	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:43006186C>T	ENST00000265348.3	-	25	4677	c.4592G>A	c.(4591-4593)aGc>aAc	p.S1531N	RN7SL403P_ENST00000481783.2_RNA|CUL7_ENST00000535468.1_Missense_Mutation_p.S1615N			Q14999	CUL7_HUMAN	cullin 7	1531					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGGTTCCTTGCTGCCATCTCG	0.582																																						ENST00000535468.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49						c.(4843-4845)aGc>aAc		cullin 7							102.0	94.0	97.0					6																	43006186		2203	4300	6503	SO:0001583	missense	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43006186C>T	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.4592G>A	6.37:g.43006186C>T	ENSP00000265348:p.Ser1531Asn					CUL7_ENST00000265348.3_Missense_Mutation_p.S1531N	p.S1615N	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		25	4930	-			1531					B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	c.4844G>A	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	C	5.459	0.269820	0.10349	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.80304	-1.36;-1.36	4.98	2.76	0.32466	Cullin, N-terminal (1);Cullin homology (1);	0.557285	0.19332	N	0.116872	T	0.55657	0.1934	L	0.27053	0.805	0.09310	N	1	P;P;P;B	0.47191	0.867;0.891;0.891;0.001	B;P;B;B	0.45753	0.359;0.492;0.412;0.004	T	0.47812	-0.9088	10	0.28530	T	0.3	-13.5621	9.3213	0.37966	0.0:0.6133:0.2959:0.0908	.	1615;1531;1615;1531	F5H0L1;A8K9U1;B4DYZ0;Q14999	.;.;.;CUL7_HUMAN	N	1531;1615	ENSP00000265348:S1531N;ENSP00000438788:S1615N	ENSP00000265348:S1531N	S	-	2	0	CUL7	43114164	0.001000	0.12720	0.013000	0.15412	0.264000	0.26372	1.068000	0.30629	1.043000	0.40175	0.655000	0.94253	AGC		0.582	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		8	118	0	0	0	1	0	8	118				
LIMD2	80774	broad.mit.edu	37	17	61775953	61775953	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:61775953A>G	ENST00000259006.3	-	5	501	c.343T>C	c.(343-345)Tgg>Cgg	p.W115R	LIMD2_ENST00000578061.1_Missense_Mutation_p.W115R|LIMD2_ENST00000583211.1_Missense_Mutation_p.W66R|LIMD2_ENST00000582055.1_Missense_Mutation_p.W66R|LIMD2_ENST00000578402.1_Missense_Mutation_p.W115R|LIMD2_ENST00000578993.1_Missense_Mutation_p.W75R	NM_030576.3	NP_085053.1	Q9BT23	LIMD2_HUMAN	LIM domain containing 2	115							zinc ion binding (GO:0008270)			kidney(1)|lung(2)	3						TTGTGGGCCCAGAGCTCCTTG	0.632																																						ENST00000259006.3																			0				kidney(1)|lung(2)	3						c.(343-345)Tgg>Cgg		LIM domain containing 2							65.0	51.0	56.0					17																	61775953		2203	4300	6503	SO:0001583	missense	80774						zinc ion binding	g.chr17:61775953A>G	AK092301	CCDS11641.1	17q23.3	2006-02-03				ENSG00000136490			28142	protein-coding gene	gene with protein product						12477932	Standard	NM_030576		Approved	MGC10986	uc002jbj.4	Q9BT23		ENST00000259006.3:c.343T>C	17.37:g.61775953A>G	ENSP00000259006:p.Trp115Arg					LIMD2_ENST00000578061.1_Missense_Mutation_p.W115R|LIMD2_ENST00000578402.1_Missense_Mutation_p.W115R|LIMD2_ENST00000583211.1_Missense_Mutation_p.W66R|LIMD2_ENST00000578993.1_Missense_Mutation_p.W75R|LIMD2_ENST00000582055.1_Missense_Mutation_p.W66R	p.W115R	NM_030576.3	NP_085053.1	Q9BT23	LIMD2_HUMAN			5	501	-			115					D3DU16|Q96S91	Missense_Mutation	SNP	ENST00000259006.3	37	c.343T>C	CCDS11641.1	.	.	.	.	.	.	.	.	.	.	A	17.04	3.288010	0.59976	.	.	ENSG00000136490	ENST00000259006	T	0.78481	-1.18	5.37	4.22	0.49857	.	0.000000	0.85682	D	0.000000	D	0.86859	0.6034	M	0.85462	2.755	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.85323	0.1085	10	0.24483	T	0.36	-16.0682	10.9466	0.47304	0.8598:0.0:0.0:0.1401	.	115	Q9BT23	LIMD2_HUMAN	R	115	ENSP00000259006:W115R	ENSP00000259006:W115R	W	-	1	0	LIMD2	59129685	1.000000	0.71417	1.000000	0.80357	0.195000	0.23768	7.408000	0.80041	2.034000	0.60081	0.533000	0.62120	TGG		0.632	LIMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443877.1	NM_030576		4	58	0	0	0	1	0	4	58				
KANK3	256949	broad.mit.edu	37	19	8398062	8398062	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:8398062C>T	ENST00000593649.1	-	7	1837	c.1772G>A	c.(1771-1773)cGc>cAc	p.R591H	KANK3_ENST00000330915.3_Missense_Mutation_p.R591H			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	591										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						CGCCTGAGAGCGCCGCTGGCT	0.687																																						ENST00000330915.3																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						c.(1771-1773)cGc>cAc		KN motif and ankyrin repeat domains 3							24.0	24.0	24.0					19																	8398062		2201	4298	6499	SO:0001583	missense	256949							g.chr19:8398062C>T	AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	24796	protein-coding gene	gene with protein product		614611	"""ankyrin repeat domain 47"""	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.1772G>A	19.37:g.8398062C>T	ENSP00000470728:p.Arg591His					KANK3_ENST00000593649.1_Missense_Mutation_p.R591H	p.R591H	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN			7	1837	-			591					Q6NZI1|Q6ZQR3|Q8IUV2	Missense_Mutation	SNP	ENST00000593649.1	37	c.1772G>A		.	.	.	.	.	.	.	.	.	.	C	14.99	2.701456	0.48307	.	.	ENSG00000186994	ENST00000330915;ENST00000381056	T	0.26660	1.72	4.52	2.24	0.28232	.	.	.	.	.	T	0.14830	0.0358	L	0.36672	1.1	0.29702	N	0.840129	B	0.33940	0.433	B	0.20384	0.029	T	0.13308	-1.0514	9	0.44086	T	0.13	-12.4816	4.5196	0.11952	0.0:0.4848:0.3011:0.2141	.	591	Q6NY19-2	.	H	591;135	ENSP00000328923:R591H	ENSP00000328923:R591H	R	-	2	0	KANK3	8304062	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.855000	0.39378	1.101000	0.41535	0.448000	0.29417	CGC		0.687	KANK3-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000461379.1	NM_198471		25	27	0	0	0	1	0	25	27				
PPAPDC1A	196051	broad.mit.edu	37	10	122263361	122263361	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:122263361G>C	ENST00000398250.1	+	2	440	c.88G>C	c.(88-90)Gtc>Ctc	p.V30L	PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.V20L|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.V30L|PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.V30L|PPAPDC1A_ENST00000398248.1_Missense_Mutation_p.V30L	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	30					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phospholipid dephosphorylation (GO:0046839)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		GTTCCAGAGAGTCATCCAGCC	0.423																																						ENST00000398250.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20						c.(88-90)Gtc>Ctc		phosphatidic acid phosphatase type 2 domain containing 1A							141.0	132.0	134.0					10																	122263361		1832	4085	5917	SO:0001583	missense	196051				phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity	g.chr10:122263361G>C	AK098668	CCDS41573.1	10q26.13	2008-02-05		2005-07-15	ENSG00000203805	ENSG00000203805			23531	protein-coding gene	gene with protein product			"""phosphatidic acid phosphatase type 2 domain containing 1"""	PPAPDC1			Standard	XM_005269592		Approved		uc001lev.1	Q5VZY2	OTTHUMG00000019168	ENST00000398250.1:c.88G>C	10.37:g.122263361G>C	ENSP00000381302:p.Val30Leu					PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.V30L|PPAPDC1A_ENST00000398248.1_Missense_Mutation_p.V30L|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.V30L|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.V20L	p.V30L	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN		all cancers(201;0.0117)	2	440	+		Lung NSC(174;0.1)|all_lung(145;0.132)	30					A2RU82|Q08EQ2|Q0IIP2|Q495B4|Q5VZY1	Missense_Mutation	SNP	ENST00000398250.1	37	c.88G>C	CCDS41573.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.135527	0.37728	.	.	ENSG00000203805	ENST00000398248;ENST00000439221;ENST00000398250;ENST00000427079;ENST00000541332;ENST00000369073	T;T;T;T	0.41400	1.01;1.01;1.0;1.0	5.32	5.32	0.75619	.	0.066386	0.64402	D	0.000010	T	0.27063	0.0663	N	0.17312	0.475	0.58432	D	0.999993	B;P;P;B	0.40431	0.001;0.566;0.717;0.0	B;B;B;B	0.40101	0.003;0.319;0.243;0.002	T	0.05402	-1.0887	10	0.11485	T	0.65	-6.0251	13.3213	0.60434	0.0758:0.0:0.9242:0.0	.	30;30;30;30	B7Z3R3;Q5VZY2-2;Q5VZY2-4;Q5VZY2	.;.;.;PPC1A_HUMAN	L	30;30;30;30;30;20	ENSP00000381302:V30L;ENSP00000407979:V30L;ENSP00000440493:V30L;ENSP00000358069:V20L	ENSP00000358069:V20L	V	+	1	0	PPAPDC1A	122253351	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.074000	0.64401	2.480000	0.83734	0.655000	0.94253	GTC		0.423	PPAPDC1A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_113641		55	11	0	0	0	1	0	55	11				
PARP10	84875	broad.mit.edu	37	8	145060033	145060033	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:145060033G>A	ENST00000313028.7	-	3	386	c.292C>T	c.(292-294)Cct>Tct	p.P98S	PARP10_ENST00000525773.1_Missense_Mutation_p.P110S|PARP10_ENST00000524918.1_Missense_Mutation_p.P98S|PARP10_ENST00000533665.1_5'UTR	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	98					negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTGGTGCCAGGGGGCAGTCCT	0.697																																						ENST00000313028.7																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(292-294)Cct>Tct		poly (ADP-ribose) polymerase family, member 10							16.0	20.0	19.0					8																	145060033		2195	4275	6470	SO:0001583	missense	84875					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding	g.chr8:145060033G>A	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.292C>T	8.37:g.145060033G>A	ENSP00000325618:p.Pro98Ser					PARP10_ENST00000524918.1_Missense_Mutation_p.P98S|PARP10_ENST00000533665.1_5'UTR|PARP10_ENST00000525773.1_Missense_Mutation_p.P110S	p.P98S	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		3	386	-	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		98					Q8N2I0|Q8WV05|Q96CH7|Q96K72	Missense_Mutation	SNP	ENST00000313028.7	37	c.292C>T	CCDS34960.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.346008	0.61073	.	.	ENSG00000178685	ENST00000524918;ENST00000313028;ENST00000525773;ENST00000525879;ENST00000528625;ENST00000525486;ENST00000531537;ENST00000529842;ENST00000528914;ENST00000528136;ENST00000529311	T;T;T;T;T;T;T;T;T;T;T	0.06068	3.35;3.35;3.35;3.35;3.35;3.35;3.35;3.35;3.35;3.35;3.35	4.84	1.89	0.25635	Nucleotide-binding, alpha-beta plait (1);	0.130904	0.34879	N	0.003606	T	0.07593	0.0191	M	0.64997	1.995	0.09310	N	0.999995	B;B	0.25312	0.123;0.123	B;B	0.25614	0.062;0.037	T	0.22591	-1.0212	10	0.45353	T	0.12	.	7.3502	0.26686	0.0928:0.3173:0.5899:0.0	.	110;98	E9PNI7;Q53GL7	.;PAR10_HUMAN	S	98;98;110;98;98;98;98;98;98;98;98	ENSP00000431620:P98S;ENSP00000325618:P98S;ENSP00000434776:P110S;ENSP00000436301:P98S;ENSP00000431818:P98S;ENSP00000435793:P98S;ENSP00000432204:P98S;ENSP00000436697:P98S;ENSP00000434005:P98S;ENSP00000431250:P98S;ENSP00000434411:P98S	ENSP00000325618:P98S	P	-	1	0	PARP10	145132021	0.275000	0.24201	0.409000	0.26459	0.926000	0.56050	0.756000	0.26419	0.422000	0.26005	0.645000	0.84053	CCT		0.697	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	NM_032789		14	44	0	0	0	1	0	14	44				
PDIA5	10954	broad.mit.edu	37	3	122842976	122842976	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:122842976C>T	ENST00000316218.7	+	9	768	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	225	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)	p.R225C(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		GTACAGCGTGCGCGGCTTCCC	0.537																																						ENST00000316218.7																			1	Substitution - Missense(1)	p.R225C(1)	large_intestine(1)	breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21						c.(673-675)Cgc>Tgc		protein disulfide isomerase family A, member 5							78.0	71.0	73.0					3																	122842976		2203	4300	6503	SO:0001583	missense	10954				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr3:122842976C>T	AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"""Protein disulfide isomerases"""	24811	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 5"""			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.673C>T	3.37:g.122842976C>T	ENSP00000323313:p.Arg225Cys						p.R225C	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN		GBM - Glioblastoma multiforme(114;0.0427)	9	768	+			225			Thioredoxin 1.		D3DN95|Q9BV43	Missense_Mutation	SNP	ENST00000316218.7	37	c.673C>T	CCDS3020.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.769373	0.69992	.	.	ENSG00000065485	ENST00000316218	T	0.64618	-0.11	5.27	4.4	0.53042	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.135590	0.50627	D	0.000104	T	0.81489	0.4833	M	0.91090	3.175	0.53005	D	0.999969	D	0.76494	0.999	D	0.65140	0.932	D	0.85623	0.1265	10	0.56958	D	0.05	.	14.5045	0.67743	0.0:0.8539:0.1461:0.0	.	225	Q14554	PDIA5_HUMAN	C	225	ENSP00000323313:R225C	ENSP00000323313:R225C	R	+	1	0	PDIA5	124325666	1.000000	0.71417	0.843000	0.33291	0.972000	0.66771	5.165000	0.64959	1.440000	0.47531	0.655000	0.94253	CGC		0.537	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356192.1	NM_006810		24	54	0	0	0	1	0	24	54				
UBOX5	22888	broad.mit.edu	37	20	3090766	3090766	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:3090766G>A	ENST00000217173.2	-	5	2083	c.1612C>T	c.(1612-1614)Cgg>Tgg	p.R538W	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5-AS1_ENST00000454019.1_RNA|UBOX5_ENST00000348031.2_Missense_Mutation_p.R484W	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1			U-box domain containing 5											endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						AAGTGGACCCGCAGCACGTCT	0.662																																						ENST00000217173.2																			0				endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						c.(1612-1614)Cgg>Tgg		U-box domain containing 5							47.0	44.0	45.0					20																	3090766		2203	4300	6503	SO:0001583	missense	22888					nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr20:3090766G>A	AB020667	CCDS13046.1, CCDS13047.1	20p13	2013-01-28			ENSG00000185019	ENSG00000185019		"""RING-type (C3HC4) zinc fingers"", ""U-box domain containing"""	17777	protein-coding gene	gene with protein product						11274149	Standard	NM_014948		Approved	UIP5, KIAA0860, Ubce7ip5, RNF37	uc002whw.4	O94941	OTTHUMG00000031731	ENST00000217173.2:c.1612C>T	20.37:g.3090766G>A	ENSP00000217173:p.Arg538Trp					UBOX5_ENST00000348031.2_Missense_Mutation_p.R484W|UBOX5-AS1_ENST00000446537.1_RNA	p.R538W	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1	O94941	RNF37_HUMAN			5	2083	-			538						Missense_Mutation	SNP	ENST00000217173.2	37	c.1612C>T	CCDS13046.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.704482	0.68615	.	.	ENSG00000185019	ENST00000217173;ENST00000348031	T;T	0.55930	0.74;0.49	5.18	4.11	0.48088	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	U	0.000000	T	0.69314	0.3097	M	0.74881	2.28	0.52099	D	0.999942	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.72181	-0.4368	10	0.87932	D	0	-12.6305	10.877	0.46917	0.0:0.0:0.5914:0.4086	.	484;538	Q86X87;O94941	.;RNF37_HUMAN	W	538;484	ENSP00000217173:R538W;ENSP00000311726:R484W	ENSP00000217173:R538W	R	-	1	2	UBOX5	3038766	1.000000	0.71417	1.000000	0.80357	0.536000	0.34869	2.263000	0.43293	2.584000	0.87258	0.561000	0.74099	CGG		0.662	UBOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077706.2	NM_014948		7	136	0	0	0	1	0	7	136				
TCTEX1D1	200132	broad.mit.edu	37	1	67241982	67241982	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:67241982G>A	ENST00000282670.2	+	4	360	c.232G>A	c.(232-234)Gtg>Atg	p.V78M		NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1	78										large_intestine(2)|lung(10)|skin(1)	13						ACATTTTCCTGTGGTCACCGT	0.358																																						ENST00000282670.2																			0				large_intestine(2)|lung(10)|skin(1)	13						c.(232-234)Gtg>Atg		Tctex1 domain containing 1							92.0	90.0	91.0					1																	67241982		2203	4300	6503	SO:0001583	missense	200132							g.chr1:67241982G>A	AK098192	CCDS633.1	1p31.2	2008-02-05			ENSG00000152760	ENSG00000152760			26882	protein-coding gene	gene with protein product							Standard	NM_152665		Approved	FLJ40873	uc001dcv.3	Q8N7M0	OTTHUMG00000009162	ENST00000282670.2:c.232G>A	1.37:g.67241982G>A	ENSP00000282670:p.Val78Met						p.V78M	NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN			4	360	+			78					Q06YR9|Q5VYE1	Missense_Mutation	SNP	ENST00000282670.2	37	c.232G>A	CCDS633.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426124	0.43020	.	.	ENSG00000152760	ENST00000282670	T	0.15718	2.4	5.92	5.92	0.95590	.	0.171742	0.51477	D	0.000100	T	0.14141	0.0342	L	0.58810	1.83	0.53688	D	0.999978	B	0.16802	0.019	B	0.28385	0.089	T	0.02214	-1.1194	10	0.37606	T	0.19	-15.9809	19.0921	0.93231	0.0:0.0:1.0:0.0	.	78	Q8N7M0	TC1D1_HUMAN	M	78	ENSP00000282670:V78M	ENSP00000282670:V78M	V	+	1	0	TCTEX1D1	67014570	1.000000	0.71417	0.316000	0.25252	0.480000	0.33159	5.464000	0.66719	2.809000	0.96659	0.655000	0.94253	GTG		0.358	TCTEX1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025399.2	NM_152665		22	74	0	0	0	1	0	22	74				
NCK2	8440	broad.mit.edu	37	2	106498429	106498429	+	Missense_Mutation	SNP	C	C	T	rs370241867		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:106498429C>T	ENST00000233154.4	+	4	1314	c.872C>T	c.(871-873)aCg>aTg	p.T291M	NCK2_ENST00000393349.2_Missense_Mutation_p.T291M|NCK2_ENST00000522586.1_Intron|NCK2_ENST00000451463.2_Intron	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	291	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|lamellipodium assembly (GO:0030032)|negative regulation of cell proliferation (GO:0008285)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of translation (GO:0006417)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|lung(3)|ovary(1)	5						GGGAACGTGACGCGGCACCAG	0.692																																						ENST00000233154.4																			0				endometrium(1)|lung(3)|ovary(1)	5						c.(871-873)aCg>aTg		NCK adaptor protein 2		C	MET/THR,,MET/THR	0,4406		0,0,2203	30.0	32.0	31.0		872,,872	5.4	1.0	2		31	1,8595	1.2+/-3.3	0,1,4297	no	missense,intron,missense	NCK2	NM_001004720.2,NM_001004722.3,NM_003581.4	81,,81	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,,probably-damaging	291/381,,291/381	106498429	1,13001	2203	4298	6501	SO:0001583	missense	8440				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity	g.chr2:106498429C>T	AF043119	CCDS33266.1	2q12	2013-02-14			ENSG00000071051	ENSG00000071051		"""SH2 domain containing"""	7665	protein-coding gene	gene with protein product		604930				9737977, 16752908	Standard	NM_001004720		Approved	NCKbeta	uc002tdi.3	O43639	OTTHUMG00000153116	ENST00000233154.4:c.872C>T	2.37:g.106498429C>T	ENSP00000233154:p.Thr291Met					NCK2_ENST00000393349.2_Missense_Mutation_p.T291M|NCK2_ENST00000451463.2_Intron|NCK2_ENST00000522586.1_Intron	p.T291M	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN			4	1314	+			291			SH2.		D3DVK1|Q9BWN9|Q9UIC3	Missense_Mutation	SNP	ENST00000233154.4	37	c.872C>T	CCDS33266.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.911658	0.92178	0.0	1.16E-4	ENSG00000071051	ENST00000233154;ENST00000393349	T;T	0.66280	-0.2;-0.2	5.36	5.36	0.76844	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.83806	0.5334	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.86809	0.1997	10	0.87932	D	0	.	19.4433	0.94836	0.0:1.0:0.0:0.0	.	291	O43639	NCK2_HUMAN	M	291	ENSP00000233154:T291M;ENSP00000377018:T291M	ENSP00000233154:T291M	T	+	2	0	NCK2	105864861	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.445000	0.80570	2.681000	0.91329	0.462000	0.41574	ACG		0.692	NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329634.1	NM_003581		13	43	0	0	0	1	0	13	43				
COPA	1314	broad.mit.edu	37	1	160260441	160260441	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:160260441G>A	ENST00000241704.7	-	32	3685	c.3456C>T	c.(3454-3456)ccC>ccT	p.P1152P	COPA_ENST00000368069.3_Silent_p.P1161P	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1152					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGCATCTGTGGGATTCTTCT	0.488																																						ENST00000241704.7																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46						c.(3454-3456)ccC>ccT		coatomer protein complex, subunit alpha							189.0	190.0	190.0					1																	160260441		2203	4300	6503	SO:0001819	synonymous_variant	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160260441G>A	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.3456C>T	1.37:g.160260441G>A						COPA_ENST00000368069.3_Silent_p.P1161P	p.P1152P	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		32	3685	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		1152					Q5T201|Q8IXZ9	Silent	SNP	ENST00000241704.7	37	c.3456C>T	CCDS1202.1																																																																																				0.488	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		38	218	0	0	0	1	0	38	218				
SUPT16H	11198	broad.mit.edu	37	14	21833045	21833045	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:21833045T>C	ENST00000216297.2	-	10	1512	c.1174A>G	c.(1174-1176)Aaa>Gaa	p.K392E		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	392					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TCTGGCTTTTTCCCCTCCTTG	0.428																																						ENST00000216297.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(1174-1176)Aaa>Gaa		suppressor of Ty 16 homolog (S. cerevisiae)							128.0	115.0	119.0					14																	21833045		2203	4300	6503	SO:0001583	missense	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21833045T>C	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.1174A>G	14.37:g.21833045T>C	ENSP00000216297:p.Lys392Glu						p.K392E	NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	10	1512	-	all_cancers(95;0.00115)		392					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	ENST00000216297.2	37	c.1174A>G	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	T	14.13	2.444825	0.43429	.	.	ENSG00000092201	ENST00000216297	T	0.76316	-1.01	5.45	5.45	0.79879	Peptidase M24, structural domain (3);	0.050913	0.85682	D	0.000000	T	0.68348	0.2991	L	0.31926	0.97	0.80722	D	1	B	0.17038	0.02	B	0.19666	0.026	T	0.63070	-0.6719	10	0.22706	T	0.39	-21.0209	14.4977	0.67700	0.0:0.0:0.0:1.0	.	392	Q9Y5B9	SP16H_HUMAN	E	392	ENSP00000216297:K392E	ENSP00000216297:K392E	K	-	1	0	SUPT16H	20902885	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	5.716000	0.68437	2.066000	0.61787	0.383000	0.25322	AAA		0.428	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			16	55	0	0	0	1	0	16	55				
TRPC3	7222	broad.mit.edu	37	4	122854027	122854027	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:122854027C>T	ENST00000379645.3	-	2	459	c.386G>A	c.(385-387)cGc>cAc	p.R129H	TRPC3_ENST00000513531.1_Missense_Mutation_p.R56H|TRPC3_ENST00000264811.5_Missense_Mutation_p.R56H	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	44					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CAGCATCTTGCGCACCACTGG	0.647																																						ENST00000264811.5																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(166-168)cGc>cAc		transient receptor potential cation channel, subfamily C, member 3							59.0	56.0	57.0					4																	122854027		2203	4300	6503	SO:0001583	missense	7222				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr4:122854027C>T	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.386G>A	4.37:g.122854027C>T	ENSP00000368966:p.Arg129His					TRPC3_ENST00000379645.3_Missense_Mutation_p.R129H|TRPC3_ENST00000513531.1_Missense_Mutation_p.R56H	p.R56H	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN			1	585	-			44					A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	37	c.167G>A	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	C	36	5.607884	0.96626	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531;ENST00000502968	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.82430	0.5035	M	0.70108	2.13	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.79784	0.987;0.993	T	0.82790	-0.0283	10	0.87932	D	0	-5.9095	20.3932	0.98965	0.0:1.0:0.0:0.0	.	56;129	E9PCJ9;Q5G1L5	.;.	H	56;129;56;56	ENSP00000264811:R56H;ENSP00000368966:R129H;ENSP00000426899:R56H;ENSP00000422214:R56H	ENSP00000264811:R56H	R	-	2	0	TRPC3	123073477	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.755000	0.85180	2.824000	0.97209	0.655000	0.94253	CGC		0.647	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305		36	20	0	0	0	1	0	36	20				
APC	324	broad.mit.edu	37	5	112174713	112174713	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:112174713C>T	ENST00000457016.1	+	16	3802	c.3422C>T	c.(3421-3423)aCc>aTc	p.T1141I	APC_ENST00000257430.4_Missense_Mutation_p.T1141I|APC_ENST00000508376.2_Missense_Mutation_p.T1141I|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1141	Asp/Glu-rich (acidic).|Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GATAAGCCTACCAATTATAGT	0.343		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		1	Unknown(1)	p.?(1)	skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(3421-3423)aCc>aTc		adenomatous polyposis coli							65.0	62.0	63.0					5																	112174713		2202	4300	6502	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112174713C>T	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3422C>T	5.37:g.112174713C>T	ENSP00000413133:p.Thr1141Ile	TSP Lung(16;0.13)				APC_ENST00000508376.2_Missense_Mutation_p.T1141I|APC_ENST00000257430.4_Missense_Mutation_p.T1141I|CTC-554D6.1_ENST00000520401.1_Intron	p.T1141I			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	3802	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1141			Asp/Glu-rich (acidic).|Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.3422C>T	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.868588	0.51588	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11;-2.11	5.76	5.76	0.90799	.	0.110268	0.64402	D	0.000009	D	0.89305	0.6677	L	0.27053	0.805	0.49051	D	0.999742	D;D	0.76494	0.992;0.999	P;D	0.85130	0.856;0.997	D	0.89190	0.3550	10	0.46703	T	0.11	-12.0316	16.2792	0.82664	0.1329:0.8671:0.0:0.0	.	1143;1141	Q4LE70;P25054	.;APC_HUMAN	I	1141;1123;1141;1141;1141	ENSP00000413133:T1141I;ENSP00000423224:T1123I;ENSP00000257430:T1141I;ENSP00000427089:T1141I;ENSP00000423828:T1141I	ENSP00000257430:T1141I	T	+	2	0	APC	112202612	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.529000	0.73812	2.732000	0.93576	0.655000	0.94253	ACC		0.343	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		4	48	0	0	0	1	0	4	48				
VEGFC	7424	broad.mit.edu	37	4	177713372	177713372	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:177713372A>G	ENST00000280193.2	-	1	509	c.94T>C	c.(94-96)Ttc>Ctc	p.F32L		NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	32					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		CCGGACTCGAAggcggcggcg	0.687																																						ENST00000280193.2																			0				biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41						c.(94-96)Ttc>Ctc		vascular endothelial growth factor C							11.0	14.0	13.0					4																	177713372		1820	4037	5857	SO:0001583	missense	7424				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	g.chr4:177713372A>G	BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.94T>C	4.37:g.177713372A>G	ENSP00000280193:p.Phe32Leu						p.F32L	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)	1	509	-		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)	32					B2R9Q8	Missense_Mutation	SNP	ENST00000280193.2	37	c.94T>C	CCDS43285.1	.	.	.	.	.	.	.	.	.	.	A	14.80	2.642997	0.47153	.	.	ENSG00000150630	ENST00000280193	.	.	.	4.3	3.13	0.36017	.	0.727991	0.12546	N	0.459446	T	0.31702	0.0805	L	0.44542	1.39	0.25913	N	0.983216	B	0.29378	0.243	B	0.24541	0.054	T	0.19289	-1.0310	9	0.49607	T	0.09	-0.0597	6.7656	0.23564	0.8889:0.0:0.1111:0.0	.	32	P49767	VEGFC_HUMAN	L	32	.	ENSP00000280193:F32L	F	-	1	0	VEGFC	177950366	0.999000	0.42202	0.990000	0.47175	0.441000	0.31987	2.046000	0.41260	1.577000	0.49804	0.254000	0.18369	TTC		0.687	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361991.1	NM_005429		16	11	0	0	0	1	0	16	11				
NUMA1	4926	broad.mit.edu	37	11	71723995	71723995	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:71723995C>A	ENST00000393695.3	-	15	4885	c.4554G>T	c.(4552-4554)aaG>aaT	p.K1518N	NUMA1_ENST00000358965.6_Missense_Mutation_p.K1518N|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CCTCCAGGACCTTGACCTTGG	0.592			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(4552-4554)aaG>aaT		nuclear mitotic apparatus protein 1							109.0	101.0	104.0					11																	71723995		2200	4293	6493	SO:0001583	missense	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71723995C>A	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.4554G>T	11.37:g.71723995C>A	ENSP00000377298:p.Lys1518Asn					NUMA1_ENST00000358965.6_Missense_Mutation_p.K1518N|NUMA1_ENST00000351960.6_Intron	p.K1518N	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			15	4885	-			1518						Missense_Mutation	SNP	ENST00000393695.3	37	c.4554G>T	CCDS31633.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.29|17.29	3.353096|3.353096	0.61293|0.61293	.|.	.|.	ENSG00000137497|ENSG00000137497	ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544|ENST00000541584	T;T|.	0.16324|.	2.35;2.5|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	0.000000|.	0.56097|.	D|.	0.000024|.	T|T	0.56001|0.56001	0.1956|0.1956	L|L	0.27053|0.27053	0.805|0.805	0.39976|0.39976	D|D	0.974853|0.974853	D;D;D;D|.	0.89917|.	1.0;0.999;0.991;1.0|.	D;D;P;D|.	0.74348|.	0.983;0.943;0.883;0.983|.	T|T	0.53294|0.53294	-0.8459|-0.8459	10|5	0.87932|.	D|.	0|.	.|.	18.0985|18.0985	0.89498|0.89498	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1524;1002;1518;1518|.	Q4LE64;Q59HB8;Q14980-2;Q14980|.	.;.;.;NUMA1_HUMAN|.	N|M	1518;1518;1081;487|363	ENSP00000351851:K1518N;ENSP00000377298:K1518N|.	ENSP00000351851:K1518N|.	K|R	-|-	3|2	2|0	NUMA1|NUMA1	71401643|71401643	0.994000|0.994000	0.37717|0.37717	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	0.535000|0.535000	0.23114|0.23114	2.596000|2.596000	0.87737|0.87737	0.561000|0.561000	0.74099|0.74099	AAG|AGG		0.592	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			20	51	1	0	1.56452e-12	1	1.81996e-12	20	51				
CSTB	1476	broad.mit.edu	37	21	45194587	45194587	+	Silent	SNP	G	G	T	rs368198839		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr21:45194587G>T	ENST00000291568.5	-	2	295	c.120C>A	c.(118-120)gcC>gcA	p.A40A		NM_000100.3	NP_000091.1	P04080	CYTB_HUMAN	cystatin B (stefin B)	40					adult locomotory behavior (GO:0008344)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			lung(1)|prostate(1)	2				STAD - Stomach adenocarcinoma(101;0.168)		TGAATGACACGGCCTTAAACA	0.527																																					Esophageal Squamous(58;831 1093 17019 29789 35147)	ENST00000291568.5																			0				lung(1)|prostate(1)	2						c.(118-120)gcC>gcA		cystatin B (stefin B)							157.0	152.0	154.0					21																	45194587		2203	4300	6503	SO:0001819	synonymous_variant	1476					cytoplasm|nucleolus	cysteine-type endopeptidase inhibitor activity|protease binding	g.chr21:45194587G>T	L03558	CCDS13701.1	21q22.3	2014-09-17			ENSG00000160213	ENSG00000160213			2482	protein-coding gene	gene with protein product		601145		EPM1, STFB		8596935	Standard	NM_000100		Approved	CST6, PME	uc002zdr.4	P04080	OTTHUMG00000086886	ENST00000291568.5:c.120C>A	21.37:g.45194587G>T							p.A40A	NM_000100.3	NP_000091.1	P04080	CYTB_HUMAN		STAD - Stomach adenocarcinoma(101;0.168)	2	295	-			40						Silent	SNP	ENST00000291568.5	37	c.120C>A	CCDS13701.1																																																																																				0.527	CSTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195689.1	NM_000100		20	73	1	0	1.28384e-07	1	1.40729e-07	20	73				
PNPLA6	10908	broad.mit.edu	37	19	7605872	7605872	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:7605872C>A	ENST00000221249.6	+	10	1173	c.742C>A	c.(742-744)Ctg>Atg	p.L248M	PNPLA6_ENST00000450331.3_Missense_Mutation_p.L248M|PNPLA6_ENST00000414982.3_Missense_Mutation_p.L296M|PNPLA6_ENST00000545201.2_Missense_Mutation_p.L248M|PNPLA6_ENST00000600737.1_Missense_Mutation_p.L287M	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	287					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GGTGCTGCGCCTGCCGGTGGA	0.692																																						ENST00000221249.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(742-744)Ctg>Atg		patatin-like phospholipase domain containing 6							13.0	14.0	14.0					19																	7605872		2201	4292	6493	SO:0001583	missense	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7605872C>A	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.742C>A	19.37:g.7605872C>A	ENSP00000221249:p.Leu248Met					PNPLA6_ENST00000600737.1_Missense_Mutation_p.L287M|PNPLA6_ENST00000545201.2_Missense_Mutation_p.L248M|PNPLA6_ENST00000450331.3_Missense_Mutation_p.L248M|PNPLA6_ENST00000414982.3_Missense_Mutation_p.L296M	p.L248M	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN			10	1173	+			287					A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	c.742C>A	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.087039	0.55861	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000544207;ENST00000450331	D;D;D;D	0.94330	-3.4;-3.4;-3.4;-3.4	5.38	4.34	0.51931	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.64402	D	0.000003	D	0.95815	0.8638	M	0.76170	2.325	0.53005	D	0.999963	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.998	D	0.95570	0.8637	10	0.87932	D	0	.	11.097	0.48150	0.0:0.9109:0.0:0.0891	.	287;248;287;248	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	M	248;248;296;185;248	ENSP00000221249:L248M;ENSP00000443323:L248M;ENSP00000407509:L296M;ENSP00000394348:L248M	ENSP00000221249:L248M	L	+	1	2	PNPLA6	7511872	0.998000	0.40836	1.000000	0.80357	0.200000	0.23975	2.441000	0.44864	2.528000	0.85240	0.491000	0.48974	CTG		0.692	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		4	21	1	0	0.00909568	1	0.0092416	4	21				
LRRC73	221424	broad.mit.edu	37	6	43476148	43476148	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:43476148C>T	ENST00000372441.1	-	3	1344	c.444G>A	c.(442-444)gaG>gaA	p.E148E		NM_001012974.1	NP_001012992.1	Q5JTD7	LRC73_HUMAN	leucine rich repeat containing 73	148																	TCAGCGTTAGCTCCTTCAAGC	0.602																																						ENST00000372441.1																			0											c.(442-444)gaG>gaA		leucine rich repeat containing 73							53.0	50.0	51.0					6																	43476148		2203	4300	6503	SO:0001819	synonymous_variant	221424							g.chr6:43476148C>T		CCDS34456.1	6p21.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000204052	ENSG00000204052			21375	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 154"""	C6orf154			Standard	NM_001012974		Approved	dJ337H4.2	uc003ovk.2	Q5JTD7	OTTHUMG00000014737	ENST00000372441.1:c.444G>A	6.37:g.43476148C>T							p.E148E	NM_001012974.1	NP_001012992.1	Q5JTD7	CF154_HUMAN			3	1344	-			148						Silent	SNP	ENST00000372441.1	37	c.444G>A	CCDS34456.1																																																																																				0.602	LRRC73-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040635.1	NM_001012974		19	47	0	0	0	1	0	19	47				
DPY19L2P1	554236	broad.mit.edu	37	7	35129958	35129958	+	RNA	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:35129958T>C	ENST00000436258.1	-	0	3411							Q6NXN4	D19P1_HUMAN	DPY19L2 pseudogene 1							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										ACCATGCCTCTTCTAAAACAT	0.348																																						ENST00000436258.1																			0																																																			554236							g.chr7:35129958T>C	BC066987		7p14.2	2014-03-18	2013-09-12		ENSG00000189212	ENSG00000189212			22305	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 1 (C. elegans)"""				Standard	NR_002833		Approved		uc031swy.1	Q6NXN4	OTTHUMG00000155026		7.37:g.35129958T>C														0	3411	-								B4E2E3	RNA	SNP	ENST00000436258.1	37																																																																																						0.348	DPY19L2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338113.1			193	131	0	0	0	1	0	193	131				
SLC34A2	10568	broad.mit.edu	37	4	25671280	25671280	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:25671280G>T	ENST00000382051.3	+	7	697	c.647G>T	c.(646-648)gGa>gTa	p.G216V	SLC34A2_ENST00000503434.1_Missense_Mutation_p.G215V|SLC34A2_ENST00000504570.1_Missense_Mutation_p.G215V|SLC34A2_ENST00000510033.2_3'UTR	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	216					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GCTTTTGCAGGAGCCACTGTC	0.537			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"""solute carrier family 34 (sodium phosphate), member 2"""			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(646-648)gGa>gTa		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							163.0	157.0	159.0					4																	25671280		2203	4300	6503	SO:0001583	missense	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25671280G>T	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.647G>T	4.37:g.25671280G>T	ENSP00000371483:p.Gly216Val					SLC34A2_ENST00000503434.1_Missense_Mutation_p.G215V|SLC34A2_ENST00000510033.2_3'UTR|SLC34A2_ENST00000504570.1_Missense_Mutation_p.G215V	p.G216V	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			7	697	+		Breast(46;0.0503)	216					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	37	c.647G>T	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577359	0.86645	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	D;D;D	0.84730	-1.89;-1.89;-1.89	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.91821	0.7412	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91227	0.5011	10	0.49607	T	0.09	-22.3082	19.5216	0.95187	0.0:0.0:1.0:0.0	.	215;216	O95436-2;O95436	.;NPT2B_HUMAN	V	215;216;215	ENSP00000425501:G215V;ENSP00000371483:G216V;ENSP00000423021:G215V	ENSP00000371483:G216V	G	+	2	0	SLC34A2	25280378	1.000000	0.71417	0.170000	0.22879	0.893000	0.52053	6.669000	0.74462	2.700000	0.92200	0.561000	0.74099	GGA		0.537	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		60	23	1	0	4.88506e-25	1	5.98813e-25	60	23				
PSME2	5721	broad.mit.edu	37	14	24614653	24614653	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:24614653C>G	ENST00000216802.5	-	4	805	c.166G>C	c.(166-168)Gac>Cac	p.D56H	PSME2_ENST00000560410.1_Missense_Mutation_p.D45H|PSME2_ENST00000471700.2_5'UTR|RNF31_ENST00000382687.3_5'Flank|RNF31_ENST00000324103.6_5'Flank|RNF31_ENST00000559275.1_5'Flank	NM_002818.2	NP_002809.2	Q9UL46	PSME2_HUMAN	proteasome (prosome, macropain) activator subunit 2 (PA28 beta)	56					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)				endometrium(1)|lung(3)|prostate(2)	6				GBM - Glioblastoma multiforme(265;0.00839)		GAAGTCAAGTCAGCCACATTG	0.577																																						ENST00000216802.5																			0				endometrium(1)|lung(3)|prostate(2)	6						c.(166-168)Gac>Cac		proteasome (prosome, macropain) activator subunit 2 (PA28 beta)							99.0	97.0	98.0					14																	24614653		2203	4300	6503	SO:0001583	missense	5721				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome activator complex		g.chr14:24614653C>G		CCDS9614.1	14q11.2	2010-03-10			ENSG00000100911	ENSG00000100911		"""Proteasome (prosome, macropain) subunits"""	9569	protein-coding gene	gene with protein product		602161				7789512	Standard	NM_002818		Approved	PA28beta	uc001wmj.3	Q9UL46	OTTHUMG00000028797	ENST00000216802.5:c.166G>C	14.37:g.24614653C>G	ENSP00000216802:p.Asp56His					PSME2_ENST00000471700.2_5'UTR|PSME2_ENST00000560410.1_Missense_Mutation_p.D45H	p.D56H	NM_002818.2	NP_002809.2	Q9UL46	PSME2_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	4	805	-			56					Q15129	Missense_Mutation	SNP	ENST00000216802.5	37	c.166G>C	CCDS9614.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.241578	0.58995	.	.	ENSG00000100911	ENST00000216802	T	0.58797	0.31	5.43	5.43	0.79202	Proteasome activator pa28, REG alpha subunit (2);	0.000000	0.85682	D	0.000000	T	0.56558	0.1993	L	0.52905	1.665	0.80722	D	1	P	0.44090	0.826	B	0.42112	0.376	T	0.62690	-0.6801	10	0.72032	D	0.01	-34.5485	14.7737	0.69699	0.0:1.0:0.0:0.0	.	56	Q9UL46	PSME2_HUMAN	H	56	ENSP00000216802:D56H	ENSP00000216802:D56H	D	-	1	0	PSME2	23684493	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.712000	0.68407	2.549000	0.85964	0.655000	0.94253	GAC		0.577	PSME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071918.3	NM_002818		17	77	0	0	0	1	0	17	77				
MAZ	4150	broad.mit.edu	37	16	29821459	29821459	+	Silent	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:29821459A>G	ENST00000322945.6	+	5	1506	c.1341A>G	c.(1339-1341)gcA>gcG	p.A447A	MAZ_ENST00000566906.2_Missense_Mutation_p.S102G|PRRT2_ENST00000300797.6_5'Flank|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000568544.1_Silent_p.A48A|MAZ_ENST00000563402.1_Missense_Mutation_p.S104G|MAZ_ENST00000219782.6_3'UTR|MAZ_ENST00000568282.1_3'UTR|AC009133.15_ENST00000566537.1_RNA|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000562337.1_Silent_p.A142A|PRRT2_ENST00000358758.7_5'Flank|MAZ_ENST00000545521.1_Silent_p.A424A|PRRT2_ENST00000567659.1_5'Flank|AC009133.14_ENST00000563806.1_RNA	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	447	Poly-Ala.			Missing (in Ref. 3). {ECO:0000305}.	positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						cagcagcggcagcagtagcag	0.667																																					Colon(72;875 1167 15364 30899 37091)	ENST00000563402.1																			0				endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(310-312)Agc>Ggc		MYC-associated zinc finger protein (purine-binding transcription factor)							11.0	15.0	14.0					16																	29821459		1906	3988	5894	SO:0001819	synonymous_variant	4150				regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr16:29821459A>G	M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"""Zinc fingers, C2H2-type"""	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.1341A>G	16.37:g.29821459A>G						MAZ_ENST00000568282.1_3'UTR|MAZ_ENST00000566906.2_Missense_Mutation_p.S102G|MAZ_ENST00000562337.1_Silent_p.A142A|MAZ_ENST00000322945.6_Silent_p.A447A|MAZ_ENST00000545521.1_Silent_p.A424A|AC009133.14_ENST00000569981.1_RNA|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000219782.6_3'UTR|MAZ_ENST00000568544.1_Silent_p.A48A	p.S104G			P56270	MAZ_HUMAN			3	441	+			104			Poly-Ala.		A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	Missense_Mutation	SNP	ENST00000322945.6	37	c.310A>G	CCDS42143.1																																																																																				0.667	MAZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435536.1	NM_002383		5	32	0	0	0	1	0	5	32				
VPS13C	54832	broad.mit.edu	37	15	62209646	62209646	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:62209646T>C	ENST00000261517.5	-	60	8022	c.7949A>G	c.(7948-7950)tAc>tGc	p.Y2650C	VPS13C_ENST00000249837.3_Missense_Mutation_p.Y2607C|RN7SL613P_ENST00000584412.1_RNA|VPS13C_ENST00000395896.4_Missense_Mutation_p.Y2650C|VPS13C_ENST00000395898.3_Missense_Mutation_p.Y2607C	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TGTACATATGTAGCTCAATTC	0.418																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(7948-7950)tAc>tGc		vacuolar protein sorting 13 homolog C (S. cerevisiae)							142.0	128.0	133.0					15																	62209646		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62209646T>C	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.7949A>G	15.37:g.62209646T>C	ENSP00000261517:p.Tyr2650Cys					VPS13C_ENST00000395898.3_Missense_Mutation_p.Y2607C|VPS13C_ENST00000249837.3_Missense_Mutation_p.Y2607C|VPS13C_ENST00000395896.4_Missense_Mutation_p.Y2650C	p.Y2650C	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			60	8022	-			2650						Missense_Mutation	SNP	ENST00000261517.5	37	c.7949A>G	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	T	8.004	0.756058	0.15846	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.44881	0.91;0.91;1.08	5.76	3.31	0.37934	.	0.287412	0.40469	N	0.001096	T	0.33440	0.0863	L	0.51422	1.61	0.37470	D	0.915562	B;B;B;B;B	0.14805	0.011;0.011;0.003;0.011;0.002	B;B;B;B;B	0.17722	0.012;0.019;0.007;0.019;0.003	T	0.23190	-1.0195	10	0.39692	T	0.17	.	6.5665	0.22515	0.2424:0.0766:0.0:0.6811	.	2650;2607;2650;2607;2650	F5GZG8;Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;.;VP13C_HUMAN	C	2607;2650;2650;2650	ENSP00000249837:Y2607C;ENSP00000261517:Y2650C;ENSP00000379233:Y2650C	ENSP00000249837:Y2607C	Y	-	2	0	VPS13C	59996938	1.000000	0.71417	0.039000	0.18376	0.533000	0.34776	2.968000	0.49224	0.999000	0.39023	0.528000	0.53228	TAC		0.418	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		18	61	0	0	0	1	0	18	61				
KCNQ5	56479	broad.mit.edu	37	6	73787199	73787199	+	Silent	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:73787199A>G	ENST00000370398.1	+	4	880	c.771A>G	c.(769-771)tcA>tcG	p.S257S	KCNQ5_ENST00000355194.4_Silent_p.S257S|KCNQ5_ENST00000414165.2_Silent_p.S257S|KCNQ5_ENST00000355635.3_Silent_p.S257S|KCNQ5_ENST00000402622.2_Silent_p.S257S|KCNQ5_ENST00000370392.1_Silent_p.S257S|KCNQ5_ENST00000403813.2_Silent_p.S257S|KCNQ5_ENST00000342056.2_Silent_p.S257S	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	257					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TACTGGGTTCAGTGGTTTATG	0.418																																					GBM(142;1375 1859 14391 23261 44706)	ENST00000342056.2																			0				breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(769-771)tcA>tcG		potassium voltage-gated channel, KQT-like subfamily, member 5							66.0	65.0	65.0					6																	73787199		2203	4300	6503	SO:0001819	synonymous_variant	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73787199A>G	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.771A>G	6.37:g.73787199A>G						KCNQ5_ENST00000355194.4_Silent_p.S257S|KCNQ5_ENST00000355635.3_Silent_p.S257S|KCNQ5_ENST00000414165.2_Silent_p.S257S|KCNQ5_ENST00000370392.1_Silent_p.S257S|KCNQ5_ENST00000403813.2_Silent_p.S257S|KCNQ5_ENST00000402622.2_Silent_p.S257S|KCNQ5_ENST00000370398.1_Silent_p.S257S	p.S257S	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	4	1169	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	257					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Silent	SNP	ENST00000370398.1	37	c.771A>G	CCDS4976.1																																																																																				0.418	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		36	38	0	0	0	1	0	36	38				
DENND1C	79958	broad.mit.edu	37	19	6475575	6475575	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:6475575C>T	ENST00000381480.2	-	13	959	c.847G>A	c.(847-849)Gag>Aag	p.E283K	DENND1C_ENST00000543576.1_Missense_Mutation_p.E239K|DENND1C_ENST00000591030.1_5'Flank	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	283	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						ACGACGTCCTCCAGGGCTTTT	0.627																																						ENST00000381480.2																			0				endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						c.(847-849)Gag>Aag		DENN/MADD domain containing 1C							94.0	100.0	98.0					19																	6475575		2163	4242	6405	SO:0001583	missense	79958					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr19:6475575C>T	AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"""DENN/MADD domain containing"""	26225	protein-coding gene	gene with protein product		613634	"""family with sequence similarity 31, member C"""	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.847G>A	19.37:g.6475575C>T	ENSP00000370889:p.Glu283Lys					DENND1C_ENST00000543576.1_Missense_Mutation_p.E239K	p.E283K	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN			13	959	-			283			DENN.		B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Missense_Mutation	SNP	ENST00000381480.2	37	c.847G>A	CCDS45938.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.289402	0.80914	.	.	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.11930	2.73;2.73	5.13	5.13	0.70059	DENN (3);	0.000000	0.85682	D	0.000000	T	0.43942	0.1270	M	0.89095	3.005	0.54753	D	0.999983	D	0.69078	0.997	D	0.72338	0.977	T	0.49826	-0.8898	10	0.51188	T	0.08	-22.0305	16.041	0.80683	0.0:1.0:0.0:0.0	.	283	Q8IV53	DEN1C_HUMAN	K	283;239	ENSP00000370889:E283K;ENSP00000437805:E239K	ENSP00000370889:E283K	E	-	1	0	DENND1C	6426575	1.000000	0.71417	0.991000	0.47740	0.018000	0.09664	6.709000	0.74665	2.394000	0.81467	0.491000	0.48974	GAG		0.627	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	NM_024898		20	112	0	0	0	1	0	20	112				
RYR2	6262	broad.mit.edu	37	1	237659941	237659941	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:237659941G>A	ENST00000366574.2	+	20	2409	c.2092G>A	c.(2092-2094)Gct>Act	p.A698T	RYR2_ENST00000542537.1_Missense_Mutation_p.A682T|RYR2_ENST00000360064.6_Missense_Mutation_p.A696T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	698	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGTGGGCTGGGCTTCCACTGA	0.502																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(2092-2094)Gct>Act		ryanodine receptor 2 (cardiac)							108.0	114.0	112.0					1																	237659941		1939	4145	6084	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237659941G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2092G>A	1.37:g.237659941G>A	ENSP00000355533:p.Ala698Thr					RYR2_ENST00000360064.6_Missense_Mutation_p.A696T|RYR2_ENST00000542537.1_Missense_Mutation_p.A682T	p.A698T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		20	2409	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	698			B30.2/SPRY 1.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.2092G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	36	5.781062	0.96929	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.67523	-0.27;-0.27;-0.27	5.98	5.98	0.97165	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000006	D	0.87565	0.6209	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89565	0.3809	10	0.87932	D	0	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	698	Q92736	RYR2_HUMAN	T	698;696;682	ENSP00000355533:A698T;ENSP00000353174:A696T;ENSP00000443798:A682T	ENSP00000353174:A696T	A	+	1	0	RYR2	235726564	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.813000	0.99286	2.835000	0.97688	0.650000	0.86243	GCT		0.502	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		20	83	0	0	0	1	0	20	83				
SMC4	10051	broad.mit.edu	37	3	160149596	160149596	+	Missense_Mutation	SNP	G	G	A	rs11548868		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:160149596G>A	ENST00000357388.3	+	21	3731	c.3280G>A	c.(3280-3282)Gca>Aca	p.A1094T	SMC4_ENST00000469762.1_Missense_Mutation_p.A1069T|SMC4_ENST00000360111.2_Missense_Mutation_p.A1036T|SMC4_ENST00000462787.1_Missense_Mutation_p.A1036T|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Missense_Mutation_p.A1094T	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	1094					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CGGTGCCATCGCAGAGTATAA	0.358																																						ENST00000357388.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(3280-3282)Gca>Aca		structural maintenance of chromosomes 4							68.0	74.0	72.0					3																	160149596		2203	4300	6503	SO:0001583	missense	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160149596G>A	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.3280G>A	3.37:g.160149596G>A	ENSP00000349961:p.Ala1094Thr					SMC4_ENST00000344722.5_Missense_Mutation_p.A1094T|SMC4_ENST00000469762.1_Missense_Mutation_p.A1069T|SMC4_ENST00000462787.1_Missense_Mutation_p.A1036T|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000360111.2_Missense_Mutation_p.A1036T	p.A1094T	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		21	3731	+			1094					A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	c.3280G>A	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219764	0.79464	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	T;T;T;T;T	0.74209	-0.82;-0.8;-0.81;-0.8;-0.82	6.06	6.06	0.98353	RecF/RecN/SMC (1);	0.091527	0.85682	D	0.000000	D	0.82879	0.5133	M	0.83012	2.62	0.54753	D	0.999985	P;P;D;P	0.56746	0.896;0.49;0.977;0.95	B;B;P;P	0.49252	0.412;0.327;0.604;0.588	D	0.83418	0.0031	10	0.48119	T	0.1	-9.2539	20.613	0.99472	0.0:0.0:1.0:0.0	rs11548868	1036;1069;1069;1094	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	T	1094;1036;1069;1036;1094;688	ENSP00000349961:A1094T;ENSP00000353225:A1036T;ENSP00000417964:A1069T;ENSP00000420734:A1036T;ENSP00000341382:A1094T	ENSP00000341382:A1094T	A	+	1	0	SMC4	161632290	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.364000	0.73086	2.876000	0.98609	0.655000	0.94253	GCA		0.358	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			36	24	0	0	0	1	0	36	24				
RRBP1	6238	broad.mit.edu	37	20	17610538	17610538	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:17610538G>A	ENST00000377813.1	-	9	2982	c.2679C>T	c.(2677-2679)caC>caT	p.H893H	RRBP1_ENST00000246043.4_Silent_p.H893H|RRBP1_ENST00000377807.2_Silent_p.H460H|RRBP1_ENST00000360807.4_Silent_p.H460H|RRBP1_ENST00000455029.2_Silent_p.H234H			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	893					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						TGCTCTGCGTGTGGCACAGCT	0.711																																						ENST00000377813.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						c.(2677-2679)caC>caT		ribosome binding protein 1							27.0	28.0	27.0					20																	17610538		2203	4297	6500	SO:0001819	synonymous_variant	6238				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	g.chr20:17610538G>A	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.2679C>T	20.37:g.17610538G>A						RRBP1_ENST00000455029.2_Silent_p.H234H|RRBP1_ENST00000377807.2_Silent_p.H460H|RRBP1_ENST00000360807.4_Silent_p.H460H|RRBP1_ENST00000246043.4_Silent_p.H893H	p.H893H			Q9P2E9	RRBP1_HUMAN			9	2982	-			893					A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Silent	SNP	ENST00000377813.1	37	c.2679C>T																																																																																					0.711	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576		7	49	0	0	0	1	0	7	49				
F13A1	2162	broad.mit.edu	37	6	6174959	6174959	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:6174959A>G	ENST00000264870.3	-	12	1866	c.1601T>C	c.(1600-1602)tTc>tCc	p.F534S		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	534					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GGAGAGCTTGAAGTCTTTTCC	0.493																																						ENST00000264870.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62						c.(1600-1602)tTc>tCc		coagulation factor XIII, A1 polypeptide	L-Glutamine(DB00130)						283.0	225.0	245.0					6																	6174959		2203	4300	6503	SO:0001583	missense	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6174959A>G	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.1601T>C	6.37:g.6174959A>G	ENSP00000264870:p.Phe534Ser						p.F534S	NM_000129.3	NP_000120.2	P00488	F13A_HUMAN			12	1866	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	534					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	c.1601T>C	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	A	17.23	3.335861	0.60853	.	.	ENSG00000124491	ENST00000264870;ENST00000441301	T	0.72282	-0.64	5.78	5.78	0.91487	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.159660	0.56097	D	0.000023	T	0.81697	0.4877	M	0.80183	2.485	0.58432	D	0.99999	P;D	0.89917	0.881;1.0	P;D	0.81914	0.553;0.995	D	0.84704	0.0730	10	0.72032	D	0.01	.	15.3024	0.73962	1.0:0.0:0.0:0.0	.	471;534	F5H080;P00488	.;F13A_HUMAN	S	534;471	ENSP00000264870:F534S	ENSP00000264870:F534S	F	-	2	0	F13A1	6119958	1.000000	0.71417	0.937000	0.37676	0.309000	0.27889	6.561000	0.73955	2.202000	0.70862	0.523000	0.50628	TTC		0.493	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		39	67	0	0	0	1	0	39	67				
SULT1C4	27233	broad.mit.edu	37	2	108994806	108994806	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:108994806G>A	ENST00000272452.2	+	1	339	c.13G>A	c.(13-15)Gac>Aac	p.D5N	SULT1C4_ENST00000409309.3_Missense_Mutation_p.D5N	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	5			D -> E (in dbSNP:rs1402467). {ECO:0000269|PubMed:9852044, ECO:0000269|Ref.4}.		3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						GGCCTTACACGACATGGAGGA	0.443																																						ENST00000272452.2																			0				endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						c.(13-15)Gac>Aac		sulfotransferase family, cytosolic, 1C, member 4							158.0	165.0	163.0					2																	108994806		2203	4300	6503	SO:0001583	missense	27233				3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity	g.chr2:108994806G>A	AF055584	CCDS2077.1	2q12.3	2008-09-04	2007-03-16	2007-03-16	ENSG00000198075	ENSG00000198075		"""Sulfotransferases, cytosolic"""	11457	protein-coding gene	gene with protein product		608357	"""sulfotransferase family, cytosolic, 1C, member 2"""	SULT1C2		10783263, 9852044	Standard	NM_006588		Approved	SULT1C	uc002tea.1	O75897	OTTHUMG00000130958	ENST00000272452.2:c.13G>A	2.37:g.108994806G>A	ENSP00000272452:p.Asp5Asn					SULT1C4_ENST00000409309.3_Missense_Mutation_p.D5N	p.D5N	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN			1	339	+			5		D -> E (in dbSNP:rs1402467).			Q069I8|Q08AS5|Q53S63	Missense_Mutation	SNP	ENST00000272452.2	37	c.13G>A	CCDS2077.1	.	.	.	.	.	.	.	.	.	.	G	8.845	0.943167	0.18281	.	.	ENSG00000198075	ENST00000272452;ENST00000409309	T;T	0.01902	4.95;4.57	4.95	1.15	0.20763	.	7739.210000	0.00166	N	0.000000	T	0.01765	0.0056	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.43605	-0.9381	10	0.23302	T	0.38	.	7.4797	0.27398	0.7417:0.0:0.2583:0.0	.	5;5;5	Q08AS5;O75897;Q6PD90	.;ST1C4_HUMAN;.	N	5	ENSP00000272452:D5N;ENSP00000387225:D5N	ENSP00000272452:D5N	D	+	1	0	SULT1C4	108361238	0.005000	0.15991	0.004000	0.12327	0.091000	0.18340	0.082000	0.14847	0.395000	0.25257	-0.290000	0.09829	GAC		0.443	SULT1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253561.1	NM_006588		103	117	0	0	0	1	0	103	117				
KDM6B	23135	broad.mit.edu	37	17	7755268	7755268	+	Splice_Site	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:7755268G>T	ENST00000448097.2	+	18	4496		c.e18-1		KDM6B_ENST00000254846.5_Splice_Site			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B						cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GACCCCTGCAGGCCACCAGGA	0.632											OREG0024145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.e18-1		lysine (K)-specific demethylase 6B							56.0	49.0	51.0					17																	7755268		2203	4300	6503	SO:0001630	splice_region_variant	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7755268G>T	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.4166-1G>T	17.37:g.7755268G>T			OREG0024145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	644	KDM6B_ENST00000448097.2_Splice_Site		NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			18	4554	+								C9IZ40|Q96G33	Splice_Site	SNP	ENST00000448097.2	37			.	.	.	.	.	.	.	.	.	.	G	25.0	4.597006	0.87055	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3706	0.87376	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KDM6B	7695993	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.192000	0.94947	2.722000	0.93159	0.491000	0.48974	.		0.632	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272	Intron	11	34	1	0	0.00829132	1	0.00853078	11	34				
OLFM1	10439	broad.mit.edu	37	9	138011607	138011607	+	Silent	SNP	C	C	T	rs138868145	byFrequency	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:138011607C>T	ENST00000371793.3	+	6	1292	c.1041C>T	c.(1039-1041)taC>taT	p.Y347Y	OLFM1_ENST00000371796.3_Silent_p.Y320Y|OLFM1_ENST00000252854.4_Silent_p.Y329Y	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	347	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		TGTACCACTACGCCTGGGGTG	0.572																																						ENST00000252854.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21						c.(985-987)taC>taT		olfactomedin 1		C		2,4404	4.2+/-10.8	0,2,2201	83.0	72.0	76.0		987	-1.9	1.0	9	dbSNP_134	76	0,8600		0,0,4300	no	coding-synonymous	OLFM1	NM_014279.4		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		329/468	138011607	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10439				nervous system development	endoplasmic reticulum lumen	protein binding	g.chr9:138011607C>T	AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"""pancortin"""	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.1041C>T	9.37:g.138011607C>T						OLFM1_ENST00000371793.3_Silent_p.Y347Y|OLFM1_ENST00000371796.3_Silent_p.Y320Y	p.Y329Y	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)	6	1174	+		Myeloproliferative disorder(178;0.0333)	347			Olfactomedin-like.		Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Silent	SNP	ENST00000371793.3	37	c.987C>T																																																																																					0.572	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000054974.1	NM_014279		34	6	0	0	0	1	0	34	6				
WNK1	65125	broad.mit.edu	37	12	994623	994623	+	Silent	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:994623C>A	ENST00000315939.6	+	19	5296	c.4653C>A	c.(4651-4653)tcC>tcA	p.S1551S	WNK1_ENST00000535572.1_Silent_p.S1304S|WNK1_ENST00000340908.4_Silent_p.S1144S|WNK1_ENST00000537687.1_Silent_p.S1811S|WNK1_ENST00000530271.2_Silent_p.S2049S	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1551					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CTTCCTCTTCCTCTCCTGGAG	0.478																																					Colon(19;451 567 6672 12618 28860)	ENST00000537687.1																			0				breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(5431-5433)tcC>tcA		WNK lysine deficient protein kinase 1							363.0	325.0	338.0					12																	994623		2203	4300	6503	SO:0001819	synonymous_variant	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:994623C>A	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.4653C>A	12.37:g.994623C>A						WNK1_ENST00000315939.6_Silent_p.S1551S|WNK1_ENST00000340908.4_Silent_p.S1144S|WNK1_ENST00000530271.2_Silent_p.S2049S|WNK1_ENST00000535572.1_Silent_p.S1304S	p.S1811S	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		19	6076	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1551					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Silent	SNP	ENST00000315939.6	37	c.5433C>A	CCDS8506.1																																																																																				0.478	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		118	372	1	0	8.58103e-55	1	1.07973e-54	118	372				
TRUB2	26995	broad.mit.edu	37	9	131076091	131076091	+	Silent	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:131076091G>T	ENST00000372890.4	-	5	789	c.456C>A	c.(454-456)acC>acA	p.T152T	RP11-339B21.13_ENST00000609315.1_RNA|TRUB2_ENST00000460320.1_5'UTR|TRUB2_ENST00000546104.1_Silent_p.T96T	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	152					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						TCTCACCATAGGTTGTCTTCT	0.587																																						ENST00000372890.4																			0				kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						c.(454-456)acC>acA		TruB pseudouridine (psi) synthase family member 2							189.0	154.0	166.0					9																	131076091		2203	4300	6503	SO:0001819	synonymous_variant	26995				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr9:131076091G>T	AK001956	CCDS6897.1	9q34.11	2014-01-28	2013-09-02		ENSG00000167112	ENSG00000167112			17170	protein-coding gene	gene with protein product		610727	"""TruB pseudouridine (psi) synthase homolog 2 (E. coli)"""			12736709	Standard	NM_015679		Approved	CLONE24922	uc004buq.1	O95900	OTTHUMG00000020741	ENST00000372890.4:c.456C>A	9.37:g.131076091G>T						TRUB2_ENST00000546104.1_Silent_p.T96T|TRUB2_ENST00000460320.1_5'UTR	p.T152T	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN			5	789	-			152					B7Z7G5	Silent	SNP	ENST00000372890.4	37	c.456C>A	CCDS6897.1																																																																																				0.587	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054419.1	NM_015679		35	63	1	0	1.06647e-15	1	1.26908e-15	35	63				
ZNF835	90485	broad.mit.edu	37	19	57175052	57175052	+	Silent	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:57175052T>C	ENST00000537055.2	-	2	1746	c.1515A>G	c.(1513-1515)ccA>ccG	p.P505P		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	505					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GCGTGGGAGCTGGGCAAAGGC	0.622																																						ENST00000537055.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(1513-1515)ccA>ccG		zinc finger protein 835							100.0	110.0	106.0					19																	57175052		2197	4298	6495	SO:0001819	synonymous_variant	90485							g.chr19:57175052T>C	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.1515A>G	19.37:g.57175052T>C							p.P505P	NM_001005850.2	NP_001005850.2					2	1746	-								B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	37	c.1515A>G	CCDS56105.1																																																																																				0.622	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		22	178	0	0	0	1	0	22	178				
ZNF304	57343	broad.mit.edu	37	19	57866668	57866668	+	Intron	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:57866668G>A	ENST00000282286.5	+	3	333				ZNF304_ENST00000391705.3_Intron|ZNF304_ENST00000598744.1_Intron|ZNF304_ENST00000443917.2_Missense_Mutation_p.A64T			Q9HCX3	ZN304_HUMAN	zinc finger protein 304						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		ATGCAGTTGCGCAGTTGGAGG	0.532																																						ENST00000443917.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26						c.(190-192)Gca>Aca		zinc finger protein 304							56.0	51.0	52.0					19																	57866668		876	1991	2867	SO:0001627	intron_variant	57343				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57866668G>A	AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"""Zinc fingers, C2H2-type"", ""-"""	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.161-730G>A	19.37:g.57866668G>A						ZNF304_ENST00000282286.5_Intron|ZNF304_ENST00000598744.1_Intron|ZNF304_ENST00000391705.3_Intron	p.A64T			Q9HCX3	ZN304_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	3	529	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	53			KRAB.			Missense_Mutation	SNP	ENST00000282286.5	37	c.190G>A	CCDS12950.1	.	.	.	.	.	.	.	.	.	.	G	7.184	0.590090	0.13812	.	.	ENSG00000131845	ENST00000443917	T	0.06933	3.24	2.65	-2.16	0.07080	.	.	.	.	.	T	0.03915	0.0110	.	.	.	0.09310	N	1	B	0.15930	0.015	B	0.10450	0.005	T	0.45659	-0.9246	8	0.20519	T	0.43	.	3.3812	0.07255	0.0:0.3803:0.2118:0.4078	.	64	E7EQD3	.	T	64	ENSP00000401642:A64T	ENSP00000401642:A64T	A	+	1	0	ZNF304	62558480	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.707000	0.05041	-0.381000	0.07882	-0.384000	0.06662	GCA		0.532	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1			17	32	0	0	0	1	0	17	32				
DLGAP4	22839	broad.mit.edu	37	20	35154314	35154314	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:35154314C>T	ENST00000373907.2	+	11	2864	c.2665C>T	c.(2665-2667)Cag>Tag	p.Q889*	DLGAP4_ENST00000401952.2_Nonsense_Mutation_p.Q886*|RP5-977B1.7_ENST00000433238.1_RNA|RP5-977B1.7_ENST00000439595.1_RNA|DLGAP4_ENST00000339266.5_Nonsense_Mutation_p.Q889*|RP5-977B1.7_ENST00000425233.1_RNA|DLGAP4_ENST00000373913.3_Nonsense_Mutation_p.Q886*|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000340491.4_Nonsense_Mutation_p.Q350*			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	889					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GGACCTGCTACAGCTGTCCAT	0.602																																						ENST00000373913.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37						c.(2656-2658)Cag>Tag		discs, large (Drosophila) homolog-associated protein 4							81.0	77.0	78.0					20																	35154314		2203	4300	6503	SO:0001587	stop_gained	22839				cell-cell signaling	membrane	protein binding	g.chr20:35154314C>T	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.2665C>T	20.37:g.35154314C>T	ENSP00000363014:p.Gln889*					DLGAP4_ENST00000340491.4_Nonsense_Mutation_p.Q350*|DLGAP4_ENST00000339266.5_Nonsense_Mutation_p.Q889*|RP5-977B1.7_ENST00000425233.1_RNA|RP5-977B1.12_ENST00000433238.1_RNA|DLGAP4_ENST00000373907.2_Nonsense_Mutation_p.Q889*|DLGAP4_ENST00000475894.1_3'UTR|RP5-977B1.7_ENST00000439595.1_RNA|DLGAP4_ENST00000401952.2_Nonsense_Mutation_p.Q886*	p.Q886*			Q9Y2H0	DLGP4_HUMAN			12	3136	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	889					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Nonsense_Mutation	SNP	ENST00000373907.2	37	c.2656C>T		.	.	.	.	.	.	.	.	.	.	C	43	10.222021	0.99362	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266;ENST00000340491	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	.	.	.	X	886;886;889;889;350	.	ENSP00000341633:Q889X	Q	+	1	0	DLGAP4	34587728	1.000000	0.71417	0.974000	0.42286	0.991000	0.79684	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CAG		0.602	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		30	113	0	0	0	1	0	30	113				
CDKL3	51265	broad.mit.edu	37	5	133702117	133702117	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:133702117T>C	ENST00000265334.4	-	2	216	c.98A>G	c.(97-99)aAg>aGg	p.K33R	CDKL3_ENST00000609654.1_Intron|CDKL3_ENST00000609383.1_Intron|CDKL3_ENST00000523054.1_Intron|CDKL3_ENST00000435240.2_Intron|CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000522501.1_Intron|CDKL3_ENST00000521755.1_Intron|CDKL3_ENST00000536186.1_Intron|CDKL3_ENST00000435211.1_Missense_Mutation_p.K33R|CDKL3_ENST00000523832.1_Missense_Mutation_p.K33R|CDKL3_ENST00000521118.1_Missense_Mutation_p.K33R	NM_001113575.1	NP_001107047.1	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	33	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATAAAATATCTTAATGGCCAC	0.358																																						ENST00000521118.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11						c.(97-99)aAg>aGg		cyclin-dependent kinase-like 3							87.0	77.0	80.0					5																	133702117		1819	4085	5904	SO:0001583	missense	51265					cytoplasm	ATP binding|cyclin-dependent protein kinase activity	g.chr5:133702117T>C	AF130372	CCDS47264.1, CCDS47265.1, CCDS75303.1	5q31.1	2014-09-09			ENSG00000006837	ENSG00000006837	2.7.11.22	"""Cyclin-dependent kinases"""	15483	protein-coding gene	gene with protein product	"""serine-threonine protein kinase NKIAMRE"""	608459				10463609	Standard	NM_016508		Approved	NKIAMRE	uc003kzf.4	Q8IVW4	OTTHUMG00000186341	ENST00000265334.4:c.98A>G	5.37:g.133702117T>C	ENSP00000265334:p.Lys33Arg					CDKL3_ENST00000523054.1_Intron|CDKL3_ENST00000435240.2_Intron|CDKL3_ENST00000521755.1_Intron|CDKL3_ENST00000523832.1_Missense_Mutation_p.K33R|CDKL3_ENST00000265334.4_Missense_Mutation_p.K33R|CDKL3_ENST00000435211.1_Missense_Mutation_p.K33R|CDKL3_ENST00000518409.1_Intron|CDKL3_ENST00000536186.1_Intron	p.K33R			Q8IVW4	CDKL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	212	-			33			Protein kinase.		D3DQA0|D3DQA1|Q9P114	Missense_Mutation	SNP	ENST00000265334.4	37	c.98A>G	CCDS47264.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.382689	0.82792	.	.	ENSG00000006837	ENST00000265334;ENST00000521118;ENST00000523832;ENST00000435211	D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87	5.94	4.77	0.60923	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.188261	0.37437	N	0.002093	D	0.94656	0.8277	H	0.96720	3.87	0.51012	D	0.9999	D;D	0.89917	1.0;0.994	D;D	0.97110	1.0;0.997	D	0.95309	0.8410	10	0.87932	D	0	-13.552	12.4234	0.55532	0.0:0.0:0.1407:0.8593	.	33;33	E7ET86;Q8IVW4	.;CDKL3_HUMAN	R	33	ENSP00000265334:K33R;ENSP00000428689:K33R;ENSP00000430496:K33R;ENSP00000395559:K33R	ENSP00000265334:K33R	K	-	2	0	CDKL3	133730016	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.444000	0.73452	1.051000	0.40369	0.528000	0.53228	AAG		0.358	CDKL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377697.1	NM_001113575		19	5	0	0	0	1	0	19	5				
BRICD5	283870	broad.mit.edu	37	16	2260807	2260807	+	Missense_Mutation	SNP	G	G	A	rs547524671		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:2260807G>A	ENST00000562360.1	-	1	27	c.28C>T	c.(28-30)Cgc>Tgc	p.R10C	BRICD5_ENST00000328540.3_Missense_Mutation_p.R10C|RP11-304L19.8_ENST00000561544.1_lincRNA|BRICD5_ENST00000566018.1_Missense_Mutation_p.R10C			Q6PL45	BRID5_HUMAN	BRICHOS domain containing 5	10						integral component of membrane (GO:0016021)											GGTTTGGGGCGCTCAGCACAG	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		17916	0.0		0.0	False		,,,				2504	0.001					ENST00000328540.3																			0											c.(28-30)Cgc>Tgc		BRICHOS domain containing 5							114.0	103.0	107.0					16																	2260807		2198	4300	6498	SO:0001583	missense	283870							g.chr16:2260807G>A	BC039154	CCDS10463.1	16p13.3	2012-10-10	2012-10-10	2012-10-10	ENSG00000182685	ENSG00000182685		"""BRICHOS domain containing"""	28309	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 79"""	C16orf79		12477932	Standard	NM_182563		Approved	MGC21830	uc002cpi.2	Q6PL45	OTTHUMG00000128831	ENST00000562360.1:c.28C>T	16.37:g.2260807G>A	ENSP00000455052:p.Arg10Cys					BRICD5_ENST00000566018.1_Missense_Mutation_p.R10C|BRICD5_ENST00000562360.1_Missense_Mutation_p.R10C	p.R10C	NM_182563.3	NP_872369.2					1	1144	-								C9J7K2|Q8IXU9	Missense_Mutation	SNP	ENST00000562360.1	37	c.28C>T	CCDS10463.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407980	0.42715	.	.	ENSG00000182685	ENST00000328540	T	0.23950	1.88	5.09	-9.47	0.00594	.	1.669760	0.03238	N	0.179883	T	0.11836	0.0288	N	0.19112	0.55	0.09310	N	1	B;B	0.21225	0.053;0.024	B;B	0.06405	0.002;0.002	T	0.15925	-1.0420	10	0.41790	T	0.15	0.5315	3.1459	0.06472	0.1835:0.3355:0.3538:0.1272	.	10;10	Q6PL45;Q6PL45-2	CP079_HUMAN;.	C	10	ENSP00000332389:R10C	ENSP00000332389:R10C	R	-	1	0	C16orf79	2200808	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.428000	0.00235	-1.331000	0.02252	-0.262000	0.10625	CGC		0.652	BRICD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435091.1	NM_182563		16	57	0	0	0	1	0	16	57				
ENO1	2023	broad.mit.edu	37	1	8930527	8930527	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:8930527G>T	ENST00000234590.4	-	4	343	c.224C>A	c.(223-225)cCt>cAt	p.P75H		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	75					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		AACCAGGGCAGGCGCAATAGT	0.468																																					Esophageal Squamous(21;302 608 19946 22210 33560)	ENST00000234590.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(223-225)cCt>cAt		enolase 1, (alpha)							96.0	83.0	87.0					1																	8930527		2203	4300	6503	SO:0001583	missense	2023				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr1:8930527G>T	BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.224C>A	1.37:g.8930527G>T	ENSP00000234590:p.Pro75His						p.P75H	NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)	4	343	-	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	75					B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Missense_Mutation	SNP	ENST00000234590.4	37	c.224C>A	CCDS97.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.969337	0.92855	.	.	ENSG00000074800	ENST00000234590	T	0.34275	1.37	5.92	5.92	0.95590	Enolase, N-terminal (1);	0.049240	0.85682	D	0.000000	T	0.74966	0.3786	H	0.97315	3.98	0.80722	D	1	D;D	0.71674	0.995;0.998	D;D	0.70716	0.93;0.97	D	0.83644	0.0152	10	0.87932	D	0	-8.6487	19.3225	0.94248	0.0:0.0:1.0:0.0	.	42;75	A4UCS8;P06733	.;ENOA_HUMAN	H	75	ENSP00000234590:P75H	ENSP00000234590:P75H	P	-	2	0	ENO1	8853114	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	2.822000	0.97130	0.650000	0.86243	CCT		0.468	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004945.1	NM_001428		6	57	1	0	1	1	1	6	57				
RPS6KC1	26750	broad.mit.edu	37	1	213414146	213414146	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:213414146C>A	ENST00000366960.3	+	11	1477	c.1327C>A	c.(1327-1329)Ctg>Atg	p.L443M	RPS6KC1_ENST00000366959.3_Missense_Mutation_p.L431M|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.L231M|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.L146M	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	443	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AAAAGTTCACCTGCAGCAGCC	0.423																																						ENST00000366960.3																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43						c.(1327-1329)Ctg>Atg		ribosomal protein S6 kinase, 52kDa, polypeptide 1							129.0	134.0	132.0					1																	213414146		2203	4300	6503	SO:0001583	missense	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213414146C>A	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.1327C>A	1.37:g.213414146C>A	ENSP00000355927:p.Leu443Met					RPS6KC1_ENST00000543354.1_Missense_Mutation_p.L146M|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.L231M|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.L431M	p.L443M	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	11	1477	+			443			Protein kinase 1.		B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	c.1327C>A	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.594938	0.28445	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.46819	1.29;1.35;1.35;0.86	5.94	5.02	0.67125	.	0.287650	0.31949	N	0.006809	T	0.65491	0.2696	M	0.67953	2.075	0.36786	D	0.884606	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.959;0.959	T	0.74169	-0.3752	10	0.87932	D	0	-13.9819	12.0523	0.53513	0.0:0.8619:0.0:0.1381	.	231;443;431	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	M	231;443;431;146	ENSP00000442306:L231M;ENSP00000355927:L443M;ENSP00000355926:L431M;ENSP00000439282:L146M	ENSP00000355926:L431M	L	+	1	2	RPS6KC1	211480769	0.478000	0.25917	0.631000	0.29282	0.210000	0.24377	1.121000	0.31283	1.510000	0.48803	0.557000	0.71058	CTG		0.423	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		4	159	1	0	0.00909568	1	0.0092416	4	159				
TNPO2	30000	broad.mit.edu	37	19	12830100	12830100	+	Silent	SNP	G	G	A	rs201975298		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:12830100G>A	ENST00000592287.1	-	3	258	c.150C>T	c.(148-150)ttC>ttT	p.F50F	TNPO2_ENST00000441499.1_Silent_p.F50F|TNPO2_ENST00000356861.5_Silent_p.F50F|TNPO2_ENST00000588216.1_Silent_p.F50F|TNPO2_ENST00000450764.2_Silent_p.F50F|TNPO2_ENST00000425528.1_Silent_p.F50F|TNPO2_ENST00000589956.1_5'UTR	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	50	Importin N-terminal.				intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGGTCAGGACGAAAATCAGGT	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		19887	0.001		0.0	False		,,,				2504	0.0					ENST00000425528.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(148-150)ttC>ttT		transportin 2							166.0	183.0	178.0					19																	12830100		1979	4149	6128	SO:0001819	synonymous_variant	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12830100G>A	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.150C>T	19.37:g.12830100G>A						TNPO2_ENST00000588216.1_Silent_p.F50F|TNPO2_ENST00000441499.1_Silent_p.F50F|TNPO2_ENST00000589956.1_5'UTR|TNPO2_ENST00000356861.5_Silent_p.F50F|TNPO2_ENST00000592287.1_Silent_p.F50F|TNPO2_ENST00000450764.2_Silent_p.F50F	p.F50F			O14787	TNPO2_HUMAN			4	507	-			50			Importin N-terminal.		O14655|Q6IN77	Silent	SNP	ENST00000592287.1	37	c.150C>T	CCDS45991.1																																																																																				0.552	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		15	37	0	0	0	1	0	15	37				
ZFP69B	65243	broad.mit.edu	37	1	40922708	40922708	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:40922708T>C	ENST00000411995.2	+	4	680	c.305T>C	c.(304-306)gTg>gCg	p.V102A	ZFP69B_ENST00000361584.3_5'UTR|ZFP69B_ENST00000484445.1_Silent_p.G73G	NM_023070.2	NP_075558.2	Q9UJL9	ZF69B_HUMAN	ZFP69 zinc finger protein B	102	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TACCGGGAGGTGATGCTGGAG	0.488																																						ENST00000411995.2																			0											c.(304-306)gTg>gCg		ZFP69 zinc finger protein B							76.0	74.0	75.0					1																	40922708		2203	4300	6503	SO:0001583	missense	65243							g.chr1:40922708T>C	BC017498	CCDS452.1, CCDS452.2	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187801	ENSG00000187801		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	28053	protein-coding gene	gene with protein product			"""zinc finger protein 643"""	ZNF643			Standard	NM_023070		Approved	ZKSCAN23B, FLJ34293, ZSCAN54B	uc001cfn.2	Q9UJL9	OTTHUMG00000007302	ENST00000411995.2:c.305T>C	1.37:g.40922708T>C	ENSP00000399664:p.Val102Ala					ZFP69B_ENST00000361584.3_5'UTR|ZFP69B_ENST00000484445.1_Silent_p.G73G	p.V102A	NM_023070.2	NP_075558.2					4	680	+								Q5QPL4	Missense_Mutation	SNP	ENST00000411995.2	37	c.305T>C	CCDS452.2	.	.	.	.	.	.	.	.	.	.	T	17.46	3.396052	0.62177	.	.	ENSG00000187801	ENST00000411995	T	0.03951	3.75	3.25	3.25	0.37280	Krueppel-associated box (4);	.	.	.	.	T	0.17066	0.0410	H	0.98646	4.29	0.80722	D	1	D	0.62365	0.991	B	0.44315	0.446	T	0.10497	-1.0627	9	0.87932	D	0	.	6.6822	0.23127	0.0:0.0:0.2439:0.7561	.	102	Q9UJL9	ZN643_HUMAN	A	102	ENSP00000399664:V102A	ENSP00000399664:V102A	V	+	2	0	ZNF643	40695295	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.447000	0.44917	1.718000	0.51419	0.482000	0.46254	GTG		0.488	ZFP69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019078.2	NM_023070		14	37	0	0	0	1	0	14	37				
MYH9	4627	broad.mit.edu	37	22	36722689	36722689	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr22:36722689C>T	ENST00000216181.5	-	5	766	c.536G>A	c.(535-537)gGc>gAc	p.G179D	MYH9_ENST00000401701.1_Missense_Mutation_p.G179D	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	179	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CTCCGTCTTGCCAGCTCCAGA	0.582			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(535-537)gGc>gAc		myosin, heavy chain 9, non-muscle							199.0	158.0	172.0					22																	36722689		2203	4300	6503	SO:0001583	missense	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36722689C>T		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.536G>A	22.37:g.36722689C>T	ENSP00000216181:p.Gly179Asp					MYH9_ENST00000401701.1_Missense_Mutation_p.G179D	p.G179D	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			5	766	-			179			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.536G>A	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833147	0.91036	.	.	ENSG00000100345	ENST00000337818;ENST00000216181;ENST00000401701	D;D	0.95001	-3.58;-3.58	4.81	4.81	0.61882	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.98845	0.9610	H	0.99927	4.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.99312	1.0904	10	0.87932	D	0	.	17.9256	0.88982	0.0:1.0:0.0:0.0	.	179;179	Q5BKV1;P35579	.;MYH9_HUMAN	D	43;179;179	ENSP00000216181:G179D;ENSP00000384631:G179D	ENSP00000216181:G179D	G	-	2	0	MYH9	35052635	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.744000	0.85034	2.215000	0.71742	0.555000	0.69702	GGC		0.582	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		27	57	0	0	0	1	0	27	57				
RAD9A	5883	broad.mit.edu	37	11	67161083	67161083	+	Splice_Site	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:67161083T>C	ENST00000307980.2	+	4	442		c.e4+2		RNU6-1238P_ENST00000517215.1_RNA	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)						cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|enzyme binding (GO:0019899)|exodeoxyribonuclease III activity (GO:0008853)|histone deacetylase binding (GO:0042826)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			GCAAGTTCGGTGAGTGGGCAG	0.637								Other conserved DNA damage response genes																														ENST00000307980.2																			0				lung(7)|upper_aerodigestive_tract(1)	8						c.e4+2	Other conserved DNA damage response genes	RAD9 homolog A (S. pombe)							58.0	55.0	56.0					11																	67161083		2200	4295	6495	SO:0001630	splice_region_variant	5883				DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding	g.chr11:67161083T>C	U53174	CCDS8159.1	11q13.1-q13.2	2008-02-05	2003-07-21	2003-07-23	ENSG00000172613	ENSG00000172613			9827	protein-coding gene	gene with protein product		603761	"""RAD9 (S. pombe) homolog"""	RAD9		8943031	Standard	NM_004584		Approved		uc001okr.3	Q99638	OTTHUMG00000167670	ENST00000307980.2:c.349+2T>C	11.37:g.67161083T>C								NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.53e-07)		4	442	+								B2RCZ8|Q6FI29|Q96C41	Splice_Site	SNP	ENST00000307980.2	37		CCDS8159.1	.	.	.	.	.	.	.	.	.	.	T	16.28	3.078855	0.55753	.	.	ENSG00000172613	ENST00000307980;ENST00000544620	.	.	.	3.81	3.81	0.43845	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3918	0.44175	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RAD9A	66917659	1.000000	0.71417	0.998000	0.56505	0.786000	0.44442	5.936000	0.70153	1.488000	0.48433	0.374000	0.22700	.		0.637	RAD9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395481.2	NM_004584	Intron	36	19	0	0	0	1	0	36	19				
TP53	7157	broad.mit.edu	37	17	7578370	7578370	+	Splice_Site	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:7578370C>T	ENST00000269305.4	-	5	749		c.e5+1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000455263.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(54)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGCTGCTCACCATCGCTATC	0.632		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		68	Unknown(54)|Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	p.?(54)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(1)	lung(12)|breast(9)|oesophagus(7)|ovary(7)|liver(7)|urinary_tract(5)|NS(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(2)|stomach(1)|soft_tissue(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.e5+1	Other conserved DNA damage response genes	tumor protein p53							48.0	46.0	47.0					17																	7578370		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578370C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.559+1G>A	17.37:g.7578370C>T		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000359597.4_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	692	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.774230	0.31411	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	4.7	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0738	0.59075	0.0:0.8363:0.1637:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519095	1.000000	0.71417	0.967000	0.41034	0.201000	0.24016	3.085000	0.50151	1.248000	0.43934	0.655000	0.94253	.		0.632	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	44	52	0	0	0	1	0	44	52				
CBLB	868	broad.mit.edu	37	3	105459342	105459342	+	Missense_Mutation	SNP	C	C	T	rs375090525		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:105459342C>T	ENST00000264122.4	-	7	1300	c.979G>A	c.(979-981)Gga>Aga	p.G327R	CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000405772.1_Missense_Mutation_p.G327R|CBLB_ENST00000394027.3_Missense_Mutation_p.G349R|CBLB_ENST00000403724.1_Missense_Mutation_p.G327R	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	327	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|SH2-like.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						ACTTACAATCCTTCCCTGCTG	0.418			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	ENST00000264122.4				Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						c.(979-981)Gga>Aga		Cbl proto-oncogene B, E3 ubiquitin protein ligase							136.0	119.0	124.0					3																	105459342		2203	4300	6503	SO:0001583	missense	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105459342C>T	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.979G>A	3.37:g.105459342C>T	ENSP00000264122:p.Gly327Arg					CBLB_ENST00000403724.1_Missense_Mutation_p.G327R|CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000394027.3_Missense_Mutation_p.G349R|CBLB_ENST00000405772.1_Missense_Mutation_p.G327R	p.G327R	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN			7	1300	-			327			Cbl-PTB.|SH2-like.		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	c.979G>A	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036832	0.93630	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94	5.73	5.73	0.89815	Adaptor protein Cbl, PTB domain (1);SH2 motif (2);Adaptor protein Cbl, SH2-like (1);	0.000000	0.85682	D	0.000000	D	0.92606	0.7651	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92786	0.6244	10	0.87932	D	0	.	19.9155	0.97058	0.0:1.0:0.0:0.0	.	349;327;327	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	R	327;349;327;327	ENSP00000264122:G327R;ENSP00000377595:G349R;ENSP00000384816:G327R;ENSP00000384938:G327R	ENSP00000264122:G327R	G	-	1	0	CBLB	106942032	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.479000	0.81095	2.699000	0.92147	0.650000	0.86243	GGA		0.418	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		43	88	0	0	0	1	0	43	88				
LEMD2	221496	broad.mit.edu	37	6	33744789	33744789	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:33744789G>A	ENST00000293760.5	-	8	1322	c.1303C>T	c.(1303-1305)Cgc>Tgc	p.R435C	LEMD2_ENST00000508327.1_Missense_Mutation_p.R133C|LEMD2_ENST00000502643.1_5'UTR	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	435					negative regulation of MAPK cascade (GO:0043409)|skeletal muscle cell differentiation (GO:0035914)	integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear membrane (GO:0031965)				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						TATGGATAGCGCTCCATGTCC	0.617																																						ENST00000293760.5																			0				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						c.(1303-1305)Cgc>Tgc		LEM domain containing 2							122.0	98.0	106.0					6																	33744789		2203	4300	6503	SO:0001583	missense	221496					integral to nuclear inner membrane		g.chr6:33744789G>A		CCDS4785.1, CCDS47411.1	6p21.31	2009-11-06			ENSG00000161904	ENSG00000161904			21244	protein-coding gene	gene with protein product						12477932	Standard	NM_001143944		Approved	dJ482C21.1, NET25	uc011drm.2	Q8NC56	OTTHUMG00000014535	ENST00000293760.5:c.1303C>T	6.37:g.33744789G>A	ENSP00000293760:p.Arg435Cys					LEMD2_ENST00000508327.1_Missense_Mutation_p.R133C|LEMD2_ENST00000502643.1_5'UTR	p.R435C	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN			8	1322	-			435					B4DVH5|E7EVT2|Q5T972|Q5T974	Missense_Mutation	SNP	ENST00000293760.5	37	c.1303C>T	CCDS4785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.3|25.3	4.626849|4.626849	0.87560|0.87560	.|.	.|.	ENSG00000161904|ENSG00000161904	ENST00000504692|ENST00000506578;ENST00000293760;ENST00000508327	.|.	.|.	.|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|Inner nuclear membrane protein MAN1 (1);	.|0.000000	.|0.64402	.|D	.|0.000017	T|T	0.61073|0.61073	0.2318|0.2318	L|L	0.47716|0.47716	1.5|1.5	0.58432|0.58432	D|D	0.999992|0.999992	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.997;0.96	T|T	0.59467|0.59467	-0.7449|-0.7449	5|9	.|0.37606	.|T	.|0.19	-4.7724|-4.7724	13.0204|13.0204	0.58784|0.58784	0.0734:0.0:0.9266:0.0|0.0734:0.0:0.9266:0.0	.|.	.|435;396	.|Q8NC56;A8MS91	.|LEMD2_HUMAN;.	V|C	82|18;435;133	.|.	.|ENSP00000293760:R435C	A|R	-|-	2|1	0|0	LEMD2|LEMD2	33852767|33852767	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	6.154000|6.154000	0.71826|0.71826	2.653000|2.653000	0.90120|0.90120	0.563000|0.563000	0.77884|0.77884	GCG|CGC		0.617	LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040209.3	XM_166338		57	77	0	0	0	1	0	57	77				
BRINP2	57795	broad.mit.edu	37	1	177226343	177226343	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:177226343G>T	ENST00000361539.4	+	4	804	c.492G>T	c.(490-492)aaG>aaT	p.K164N	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	164	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											TTGTGGACAAGCAGAAACTGG	0.517																																						ENST00000361539.4																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						c.(490-492)aaG>aaT									86.0	83.0	84.0					1																	177226343		2203	4300	6503	SO:0001583	missense	57795					extracellular region		g.chr1:177226343G>T		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.492G>T	1.37:g.177226343G>T	ENSP00000354481:p.Lys164Asn					FAM5B_ENST00000478325.1_3'UTR	p.K164N	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN			4	804	+			164					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.492G>T	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.963933	0.92791	.	.	ENSG00000198797	ENST00000361539	D	0.84944	-1.92	5.05	5.05	0.67936	Membrane attack complex component/perforin (MACPF) domain (2);	0.000000	0.85682	D	0.000000	D	0.92750	0.7695	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.966	D	0.93627	0.6953	10	0.87932	D	0	-29.7825	18.3758	0.90435	0.0:0.0:1.0:0.0	.	59;164	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	N	164	ENSP00000354481:K164N	ENSP00000354481:K164N	K	+	3	2	FAM5B	175492966	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	5.317000	0.65822	2.496000	0.84212	0.655000	0.94253	AAG		0.517	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		11	46	1	0	0.000978159	1	0.00102491	11	46				
SUZ12	23512	broad.mit.edu	37	17	30320994	30320994	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:30320994A>T	ENST00000322652.5	+	12	1633	c.1404A>T	c.(1402-1404)aaA>aaT	p.K468N	SUZ12_ENST00000580398.1_Missense_Mutation_p.K445N	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	468					histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				AGCATCTTAAACTCTGCCATA	0.348			T	JAZF1	endometrial stromal tumours																																	ENST00000322652.5				Dom	yes		17	17q11.2	23512	T	suppressor of zeste 12 homolog (Drosophila)			M	JAZF1		endometrial stromal tumours	SSH2/SUZ12(2)|JAZF1/SUZ12(133)	0				breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21						c.(1402-1404)aaA>aaT		SUZ12 polycomb repressive complex 2 subunit							86.0	80.0	82.0					17																	30320994		2203	4300	6503	SO:0001583	missense	23512				negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding	g.chr17:30320994A>T	D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"""Zinc fingers, C2H2-type"""	17101	protein-coding gene	gene with protein product		606245	"""suppressor of zeste 12 homolog (Drosophila)"""			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	ENST00000322652.5:c.1404A>T	17.37:g.30320994A>T	ENSP00000316578:p.Lys468Asn					SUZ12_ENST00000580398.1_Missense_Mutation_p.K445N	p.K468N	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN			12	1633	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)	468					Q96BD9	Missense_Mutation	SNP	ENST00000322652.5	37	c.1404A>T	CCDS11270.1	.	.	.	.	.	.	.	.	.	.	a	11.51	1.659975	0.29515	.	.	ENSG00000178691	ENST00000322652	T	0.50548	0.74	5.38	2.34	0.29019	Zinc finger, C2H2-like (1);	0.044994	0.85682	D	0.000000	T	0.51873	0.1700	M	0.72894	2.215	0.43693	D	0.996141	D;P	0.53619	0.961;0.948	P;P	0.49637	0.617;0.614	T	0.50372	-0.8836	10	0.59425	D	0.04	-11.148	8.6222	0.33868	0.7196:0.0:0.2804:0.0	.	468;468	A8K1U9;Q15022	.;SUZ12_HUMAN	N	468	ENSP00000316578:K468N	ENSP00000316578:K468N	K	+	3	2	SUZ12	27345107	0.999000	0.42202	0.998000	0.56505	0.893000	0.52053	0.621000	0.24418	0.132000	0.18615	0.524000	0.50904	AAA		0.348	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256260.2	NM_015355		29	152	0	0	0	1	0	29	152				
GPRIN3	285513	broad.mit.edu	37	4	90170865	90170865	+	Missense_Mutation	SNP	G	G	A	rs142993117		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:90170865G>A	ENST00000609438.1	-	2	915	c.397C>T	c.(397-399)Cac>Tac	p.H133Y	GPRIN3_ENST00000333209.4_Missense_Mutation_p.H133Y	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	133										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TGGCAGGTGTGCTGATTGGCG	0.557																																						ENST00000333209.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36						c.(397-399)Cac>Tac		GPRIN family member 3							138.0	138.0	138.0					4																	90170865		2203	4300	6503	SO:0001583	missense	285513							g.chr4:90170865G>A	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.397C>T	4.37:g.90170865G>A	ENSP00000476603:p.His133Tyr						p.H133Y	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	2	915	-		Hepatocellular(203;0.114)	133					Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	37	c.397C>T	CCDS34030.1	.	.	.	.	.	.	.	.	.	.	G	0.025	-1.381203	0.01204	.	.	ENSG00000185477	ENST00000333209	T	0.11604	2.76	5.28	1.24	0.21308	.	0.710532	0.11617	N	0.546119	T	0.06872	0.0175	L	0.32530	0.975	0.09310	N	1	B	0.11235	0.004	B	0.14023	0.01	T	0.43228	-0.9404	10	0.22109	T	0.4	0.0909	2.6173	0.04907	0.2277:0.1705:0.4839:0.118	.	133	Q6ZVF9	GRIN3_HUMAN	Y	133	ENSP00000328672:H133Y	ENSP00000328672:H133Y	H	-	1	0	GPRIN3	90389888	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.850000	0.27737	0.068000	0.16574	-0.813000	0.03139	CAC		0.557	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		58	58	0	0	0	1	0	58	58				
CTSW	1521	broad.mit.edu	37	11	65650554	65650554	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:65650554C>A	ENST00000307886.3	+	8	806	c.760C>A	c.(760-762)Ctg>Atg	p.L254M	CTSW_ENST00000528419.1_Missense_Mutation_p.L254M	NM_001335.3	NP_001326	P56202	CATW_HUMAN	cathepsin W	254					immune response (GO:0006955)	membrane (GO:0016020)	cysteine-type peptidase activity (GO:0008234)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		TGCGCAGTACCTGGCCACTTA	0.592																																						ENST00000528419.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9						c.(760-762)Ctg>Atg		cathepsin W							225.0	190.0	202.0					11																	65650554		2201	4296	6497	SO:0001583	missense	1521				immune response|proteolysis		cysteine-type endopeptidase activity	g.chr11:65650554C>A	AF055903	CCDS8117.1	11q13.1	2008-02-01	2006-12-05		ENSG00000172543	ENSG00000172543		"""Cathepsins"""	2546	protein-coding gene	gene with protein product		602364	"""cathepsin W (lymphopain)"""			9108299, 9675123	Standard	NM_001335		Approved		uc001ogc.1	P56202	OTTHUMG00000166663	ENST00000307886.3:c.760C>A	11.37:g.65650554C>A	ENSP00000311300:p.Leu254Met					CTSW_ENST00000307886.3_Missense_Mutation_p.L254M	p.L254M			P56202	CATW_HUMAN		READ - Rectum adenocarcinoma(159;0.168)	8	764	+			254					Q86VT4	Missense_Mutation	SNP	ENST00000307886.3	37	c.760C>A	CCDS8117.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.879404	0.72294	.	.	ENSG00000172543	ENST00000307886;ENST00000528419	D;D	0.89681	-2.55;-2.55	5.38	-0.269	0.12930	Peptidase C1A, papain C-terminal (2);	0.295611	0.24502	N	0.037967	D	0.89501	0.6733	M	0.80616	2.505	0.28802	N	0.898714	P;D	0.56746	0.868;0.977	P;P	0.52424	0.648;0.698	T	0.83336	-0.0010	10	0.72032	D	0.01	.	5.0954	0.14731	0.0:0.4755:0.2868:0.2376	.	254;254	P56202;E9PI30	CATW_HUMAN;.	M	254	ENSP00000311300:L254M;ENSP00000436568:L254M	ENSP00000311300:L254M	L	+	1	2	CTSW	65407130	0.899000	0.30636	0.953000	0.39169	0.601000	0.36947	0.049000	0.14099	0.249000	0.21456	0.491000	0.48974	CTG		0.592	CTSW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391042.1	NM_001335		33	141	1	0	3.76114e-14	1	4.42944e-14	33	141				
MYO3A	53904	broad.mit.edu	37	10	26457731	26457731	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:26457731G>T	ENST00000265944.5	+	28	3368	c.3202G>T	c.(3202-3204)Gca>Tca	p.A1068S	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1068	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TTGTGTCAGAGCATTCTTGTG	0.338																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(3202-3204)Gca>Tca		myosin IIIA							125.0	126.0	126.0					10																	26457731		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26457731G>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3202G>T	10.37:g.26457731G>T	ENSP00000265944:p.Ala1068Ser					MYO3A_ENST00000543632.1_Intron	p.A1068S	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			28	3368	+			1068			IQ 1.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.3202G>T	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.899138	0.72754	.	.	ENSG00000095777	ENST00000265944	T	0.71934	-0.61	5.63	5.63	0.86233	.	0.050019	0.85682	D	0.000000	T	0.61502	0.2352	N	0.22421	0.69	0.80722	D	1	B	0.26120	0.142	B	0.23150	0.044	T	0.58306	-0.7659	10	0.52906	T	0.07	.	20.0499	0.97621	0.0:0.0:1.0:0.0	.	1068	Q8NEV4	MYO3A_HUMAN	S	1068	ENSP00000265944:A1068S	ENSP00000265944:A1068S	A	+	1	0	MYO3A	26497737	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.720000	0.91442	2.798000	0.96311	0.655000	0.94253	GCA		0.338	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		33	118	1	0	4.3181e-19	1	5.22573e-19	33	118				
DCLRE1A	9937	broad.mit.edu	37	10	115609585	115609585	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:115609585T>C	ENST00000361384.2	-	2	2196	c.1279A>G	c.(1279-1281)Aaa>Gaa	p.K427E	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.K427E	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	427	Nuclear focus formation.				mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		GGTTTTGCTTTAGTTGCCTGA	0.408								Other identified genes with known or suspected DNA repair function																														ENST00000361384.2																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(1279-1281)Aaa>Gaa	Other identified genes with known or suspected DNA repair function	DNA cross-link repair 1A							48.0	45.0	46.0					10																	115609585		2203	4300	6503	SO:0001583	missense	9937				cell division|mitosis	nucleus	hydrolase activity	g.chr10:115609585T>C		CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.1279A>G	10.37:g.115609585T>C	ENSP00000355185:p.Lys427Glu					DCLRE1A_ENST00000369305.1_Missense_Mutation_p.K427E	p.K427E	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN		Epithelial(162;0.0157)|all cancers(201;0.0171)	2	2196	-			427			Nuclear focus formation.		D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	ENST00000361384.2	37	c.1279A>G	CCDS7584.1	.	.	.	.	.	.	.	.	.	.	T	5.765	0.325484	0.10900	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	T;T	0.68181	-0.31;-0.31	5.78	2.23	0.28157	.	1.079630	0.06948	N	0.814010	T	0.59101	0.2169	L	0.54323	1.7	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.46596	-0.9180	10	0.40728	T	0.16	-2.9217	4.7887	0.13238	0.0:0.2533:0.1524:0.5943	.	427	Q6PJP8	DCR1A_HUMAN	E	427	ENSP00000355185:K427E;ENSP00000358311:K427E	ENSP00000355185:K427E	K	-	1	0	DCLRE1A	115599575	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.656000	0.24948	0.465000	0.27167	0.528000	0.53228	AAA		0.408	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881		21	29	0	0	0	1	0	21	29				
PIK3C2A	5286	broad.mit.edu	37	11	17139068	17139068	+	Silent	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:17139068T>C	ENST00000265970.7	-	18	3185	c.3186A>G	c.(3184-3186)aaA>aaG	p.K1062K	RNU6-593P_ENST00000364716.1_RNA|PIK3C2A_ENST00000540361.1_Silent_p.K682K|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1062					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						CCTGCCTTACTTTTTCTGCTA	0.393																																						ENST00000265970.7																			0				central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(3184-3186)aaA>aaG		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)						138.0	137.0	138.0					11																	17139068		2200	4293	6493	SO:0001819	synonymous_variant	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17139068T>C	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.3186A>G	11.37:g.17139068T>C						PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Silent_p.K682K	p.K1062K	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN			18	3185	-			1062					B0LPH2|B4E2G4|Q14CQ9	Silent	SNP	ENST00000265970.7	37	c.3186A>G	CCDS7824.1																																																																																				0.393	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		53	167	0	0	0	1	0	53	167				
INPP5D	3635	broad.mit.edu	37	2	234112940	234112940	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:234112940G>A	ENST00000359570.5	+	28	3108	c.3108G>A	c.(3106-3108)ccG>ccA	p.P1036P	RN7SL32P_ENST00000580514.1_RNA|INPP5D_ENST00000450745.1_Silent_p.P800P|INPP5D_ENST00000455936.2_Silent_p.P800P			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	1048	Pro-rich.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		AGGAACCCCCGCCCTGCCCGG	0.657																																					NSCLC(82;1215 1426 16163 20348 41018)	ENST00000359570.5																			0				central_nervous_system(1)|ovary(1)	2						c.(3106-3108)ccG>ccA		inositol polyphosphate-5-phosphatase, 145kDa							33.0	43.0	40.0					2																	234112940		1903	4119	6022	SO:0001819	synonymous_variant	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234112940G>A	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.3108G>A	2.37:g.234112940G>A						INPP5D_ENST00000455936.2_Missense_Mutation_p.800_800insP|INPP5D_ENST00000450745.1_Missense_Mutation_p.800_800insP	p.1036_1036insP			Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	28	3108	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	0			Pro-rich.		O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37	c.3108G>A																																																																																					0.657	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		36	53	0	0	0	1	0	36	53				
LIMCH1	22998	broad.mit.edu	37	4	41648832	41648832	+	Silent	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:41648832T>C	ENST00000313860.7	+	12	1641	c.1587T>C	c.(1585-1587)acT>acC	p.T529T	LIMCH1_ENST00000511496.1_Silent_p.T370T|LIMCH1_ENST00000508501.1_Silent_p.T529T|LIMCH1_ENST00000396595.3_Silent_p.T375T|LIMCH1_ENST00000512946.1_Silent_p.T529T|LIMCH1_ENST00000513024.1_Silent_p.T358T|LIMCH1_ENST00000503057.1_Silent_p.T914T|LIMCH1_ENST00000512820.1_Silent_p.T517T|LIMCH1_ENST00000512632.1_Silent_p.T529T|LIMCH1_ENST00000381753.4_Silent_p.T363T|LIMCH1_ENST00000514096.1_Silent_p.T370T|LIMCH1_ENST00000509277.1_Silent_p.T363T	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	529					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						AAACTGTCACTCCCAAAGCAG	0.488																																						ENST00000313860.7																			0				central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						c.(1585-1587)acT>acC		LIM and calponin homology domains 1							133.0	134.0	134.0					4																	41648832		2203	4300	6503	SO:0001819	synonymous_variant	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41648832T>C	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.1587T>C	4.37:g.41648832T>C						LIMCH1_ENST00000513024.1_Silent_p.T358T|LIMCH1_ENST00000381753.4_Silent_p.T363T|LIMCH1_ENST00000509277.1_Silent_p.T363T|LIMCH1_ENST00000512946.1_Silent_p.T529T|LIMCH1_ENST00000512820.1_Silent_p.T517T|LIMCH1_ENST00000508501.1_Silent_p.T529T|LIMCH1_ENST00000503057.1_Silent_p.T914T|LIMCH1_ENST00000396595.3_Silent_p.T375T|LIMCH1_ENST00000511496.1_Silent_p.T370T|LIMCH1_ENST00000514096.1_Silent_p.T370T|LIMCH1_ENST00000512632.1_Silent_p.T529T	p.T529T	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN			12	1641	+			529					A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Silent	SNP	ENST00000313860.7	37	c.1587T>C	CCDS33977.1	.	.	.	.	.	.	.	.	.	.	T	8.674	0.903506	0.17760	.	.	ENSG00000064042	ENST00000508466	.	.	.	5.81	-1.58	0.08479	.	.	.	.	.	T	0.33177	0.0854	.	.	.	0.35353	D	0.787557	.	.	.	.	.	.	T	0.36962	-0.9726	4	.	.	.	-1.7823	1.5084	0.02491	0.1372:0.3112:0.2823:0.2694	.	.	.	.	P	364	.	.	L	+	2	0	LIMCH1	41343589	0.003000	0.15002	0.984000	0.44739	0.994000	0.84299	-0.617000	0.05584	-0.129000	0.11620	-0.435000	0.05868	CTC		0.488	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		47	68	0	0	0	1	0	47	68				
PDGFRA	5156	broad.mit.edu	37	4	55138607	55138607	+	Silent	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:55138607T>C	ENST00000257290.5	+	9	1615	c.1284T>C	c.(1282-1284)acT>acC	p.T428T	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	428	Ig-like C2-type 5.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	ATGGCTCAACTGGGGGACAGA	0.473			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"""Mis, O, T"""	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(1282-1284)acT>acC		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						154.0	140.0	145.0					4																	55138607		2203	4300	6503	SO:0001819	synonymous_variant	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55138607T>C	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1284T>C	4.37:g.55138607T>C		TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Intron	p.T428T	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		9	1615	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		428			Ig-like C2-type 5.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Silent	SNP	ENST00000257290.5	37	c.1284T>C	CCDS3495.1																																																																																				0.473	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		15	56	0	0	0	1	0	15	56				
PPHLN1	51535	broad.mit.edu	37	12	42778764	42778764	+	Silent	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:42778764C>A	ENST00000395568.2	+	6	618	c.534C>A	c.(532-534)tcC>tcA	p.S178S	PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000449194.2_Intron|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000432191.2_Silent_p.S123S|PPHLN1_ENST00000549190.1_Silent_p.S196S|PPHLN1_ENST00000395580.3_Silent_p.S185S|PPHLN1_ENST00000337898.6_Silent_p.S123S|PPHLN1_ENST00000358314.7_Silent_p.S178S|PPHLN1_ENST00000552761.1_Silent_p.S130S	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	178	Ser-rich.			S -> F (in Ref. 2; AAO16497). {ECO:0000305}.	keratinization (GO:0031424)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		CTGGTGCCTCCTACAAACGGC	0.498																																						ENST00000432191.2																			0				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(367-369)tcC>tcA		periphilin 1							126.0	108.0	114.0					12																	42778764		2203	4300	6503	SO:0001819	synonymous_variant	51535				keratinization	cytoplasm|nucleus		g.chr12:42778764C>A	AY157850	CCDS8741.1, CCDS31777.1, CCDS41773.1, CCDS44860.1, CCDS44861.1, CCDS55817.1	12q12	2006-10-24				ENSG00000134283			19369	protein-coding gene	gene with protein product		608150					Standard	NM_016488		Approved		uc001rng.1	Q8NEY8		ENST00000395568.2:c.534C>A	12.37:g.42778764C>A						PPHLN1_ENST00000552761.1_Silent_p.S130S|PPHLN1_ENST00000449194.2_Intron|PPHLN1_ENST00000358314.7_Silent_p.S178S|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000395580.3_Silent_p.S185S|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000549190.1_Silent_p.S196S|PPHLN1_ENST00000337898.6_Silent_p.S123S|PPHLN1_ENST00000395568.2_Silent_p.S178S	p.S123S	NM_001143787.1	NP_001137259.1	Q8NEY8	PPHLN_HUMAN		GBM - Glioblastoma multiforme(48;0.0875)	5	441	+	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)	178					E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9	Silent	SNP	ENST00000395568.2	37	c.369C>A	CCDS31777.1																																																																																				0.498	PPHLN1-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404047.1	NM_201515		9	84	1	0	0.000673444	1	0.00070693	9	84				
USP24	23358	broad.mit.edu	37	1	55612663	55612663	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:55612663C>T	ENST00000294383.6	-	19	2188	c.2189G>A	c.(2188-2190)cGt>cAt	p.R730H	USP24_ENST00000407756.1_Missense_Mutation_p.R570H	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	730					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CTCCTTGGCACGATTCCAGCC	0.383																																						ENST00000294383.6																			0				breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(2188-2190)cGt>cAt		ubiquitin specific peptidase 24							109.0	104.0	106.0					1																	55612663		1857	4107	5964	SO:0001583	missense	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55612663C>T	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.2189G>A	1.37:g.55612663C>T	ENSP00000294383:p.Arg730His					USP24_ENST00000407756.1_Missense_Mutation_p.R570H	p.R730H	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN			19	2188	-			730					Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	c.2189G>A	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	C	26.4	4.735966	0.89482	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.02280	4.36;4.37	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.04363	0.0120	L	0.56769	1.78	0.53688	D	0.999972	P	0.47106	0.89	B	0.40677	0.337	T	0.58967	-0.7542	10	0.19590	T	0.45	.	19.8535	0.96748	0.0:1.0:0.0:0.0	.	570	B7WPF4	.	H	730;570	ENSP00000294383:R730H;ENSP00000385700:R570H	ENSP00000294383:R730H	R	-	2	0	USP24	55385251	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.686000	0.91538	0.585000	0.79938	CGT		0.383	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			6	38	0	0	0	1	0	6	38				
ANKRD11	29123	broad.mit.edu	37	16	89346491	89346491	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:89346491C>T	ENST00000301030.4	-	9	6919	c.6459G>A	c.(6457-6459)gcG>gcA	p.A2153A	ANKRD11_ENST00000378330.2_Silent_p.A2153A	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2153	Pro-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCACGGGTTCCGCTTCACCAT	0.647																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(6457-6459)gcG>gcA		ankyrin repeat domain 11							18.0	21.0	20.0					16																	89346491		2180	4250	6430	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89346491C>T	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.6459G>A	16.37:g.89346491C>T						ANKRD11_ENST00000378330.2_Silent_p.A2153A	p.A2153A	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	6919	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	2153			Pro-rich.		Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.6459G>A	CCDS32513.1																																																																																				0.647	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		17	21	0	0	0	1	0	17	21				
HIST1H4A	8359	broad.mit.edu	37	6	26022048	26022048	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:26022048T>C	ENST00000359907.3	+	1	142	c.142T>C	c.(142-144)Tct>Cct	p.S48P		NM_003538.3	NP_003529.1	P62805	H4_HUMAN	histone cluster 1, H4a	48					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			large_intestine(1)|skin(1)	2						GAAGCGGATCTCTGGTCTGAT	0.622																																						ENST00000359907.3																			0				large_intestine(1)|skin(1)	2						c.(142-144)Tct>Cct		histone cluster 1, H4a							100.0	100.0	100.0					6																	26022048		2203	4300	6503	SO:0001583	missense	8359				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26022048T>C	X60481	CCDS4571.1	6p22.1	2011-01-27	2006-10-11	2003-03-07	ENSG00000196176	ENSG00000278637		"""Histones / Replication-dependent"""	4781	protein-coding gene	gene with protein product		602822	"""H4 histone family, member A"", ""histone 1, H4a"""	H4FA		9119399, 12408966	Standard	NM_003538		Approved		uc003nfq.3	P62805	OTTHUMG00000014419	ENST00000359907.3:c.142T>C	6.37:g.26022048T>C	ENSP00000352980:p.Ser48Pro						p.S48P	NM_003538.3	NP_003529.1	P62805	H4_HUMAN			1	142	+			48					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000359907.3	37	c.142T>C	CCDS4571.1	.	.	.	.	.	.	.	.	.	.	t	21.9	4.219008	0.79464	.	.	ENSG00000196176	ENST00000359907	T	0.73681	-0.77	3.94	3.94	0.45596	.	.	.	.	.	T	0.70456	0.3226	.	.	.	0.39810	D	0.972688	.	.	.	.	.	.	T	0.71300	-0.4634	5	.	.	.	.	12.6998	0.57024	0.0:0.0:0.0:1.0	.	.	.	.	P	48	ENSP00000352980:S48P	.	S	+	1	0	HIST1H4A	26130027	1.000000	0.71417	0.993000	0.49108	0.430000	0.31655	7.626000	0.83164	1.721000	0.51461	0.533000	0.62120	TCT		0.622	HIST1H4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040081.1	NM_003538		36	83	0	0	0	1	0	36	83				
RAD54L	8438	broad.mit.edu	37	1	46739344	46739344	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:46739344G>A	ENST00000371975.4	+	14	2209	c.1535G>A	c.(1534-1536)aGc>aAc	p.S512N	RAD54L_ENST00000442598.1_Missense_Mutation_p.S512N	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	512	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CGAAGCCGTAGCAGTGACAAA	0.547								Direct reversal of damage;Homologous recombination																														ENST00000371975.4																			0				breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25						c.(1534-1536)aGc>aAc	Direct reversal of damage;Homologous recombination	RAD54-like (S. cerevisiae)							70.0	75.0	74.0					1																	46739344		2203	4300	6503	SO:0001583	missense	8438				meiosis	nucleus	ATP binding|DNA binding|helicase activity	g.chr1:46739344G>A	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.1535G>A	1.37:g.46739344G>A	ENSP00000361043:p.Ser512Asn					RAD54L_ENST00000488942.1_3'UTR|RAD54L_ENST00000442598.1_Missense_Mutation_p.S512N	p.S512N	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)	14	2209	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	512			Helicase C-terminal.		Q5TE31|Q6IUY3	Missense_Mutation	SNP	ENST00000371975.4	37	c.1535G>A	CCDS532.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561940	0.65538	.	.	ENSG00000085999	ENST00000442598;ENST00000371975;ENST00000535499	T;T	0.75050	-0.9;-0.9	4.94	4.94	0.65067	Helicase, C-terminal (1);	0.132567	0.64402	D	0.000002	T	0.66509	0.2796	N	0.26042	0.785	0.80722	D	1	B;B	0.22983	0.053;0.078	B;B	0.25884	0.06;0.064	T	0.65253	-0.6213	10	0.62326	D	0.03	-9.102	18.4203	0.90588	0.0:0.0:1.0:0.0	.	332;512	G3V1N0;Q92698	.;RAD54_HUMAN	N	512;512;332	ENSP00000396113:S512N;ENSP00000361043:S512N	ENSP00000361043:S512N	S	+	2	0	RAD54L	46511931	1.000000	0.71417	0.999000	0.59377	0.925000	0.55904	6.816000	0.75247	2.596000	0.87737	0.558000	0.71614	AGC		0.547	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		7	16	0	0	0	1	0	7	16				
HNRNPA3	220988	broad.mit.edu	37	2	178080755	178080755	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:178080755G>A	ENST00000392524.2	+	4	629	c.392G>A	c.(391-393)gGt>gAt	p.G131D	HNRNPA3_ENST00000411529.2_Missense_Mutation_p.G109D|HNRNPA3_ENST00000435711.1_Missense_Mutation_p.G131D			P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	131	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						ATTTTTGTTGGTGGTATTAAA	0.323																																						ENST00000411529.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						c.(325-327)gGt>gAt		heterogeneous nuclear ribonucleoprotein A3							53.0	53.0	53.0					2																	178080755		2156	4277	6433	SO:0001583	missense	220988					catalytic step 2 spliceosome|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr2:178080755G>A	AF517524	CCDS2273.1	2q31.2	2013-02-12		2008-04-18	ENSG00000170144	ENSG00000170144		"""RNA binding motif (RRM) containing"""	24941	protein-coding gene	gene with protein product		605372		HNRPA3		11886857, 15776420	Standard	XM_005246380		Approved		uc002ulc.1	P51991	OTTHUMG00000132529	ENST00000392524.2:c.392G>A	2.37:g.178080755G>A	ENSP00000376309:p.Gly131Asp					HNRNPA3_ENST00000392524.2_Missense_Mutation_p.G131D|HNRNPA3_ENST00000435711.1_Missense_Mutation_p.G131D	p.G109D	NM_194247.2	NP_919223.1	P51991	ROA3_HUMAN			4	377	+			131			RRM 1.		D3DPF4|Q53RW7|Q6URK5	Missense_Mutation	SNP	ENST00000392524.2	37	c.326G>A	CCDS2273.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.168396	0.78339	.	.	ENSG00000170144	ENST00000392524;ENST00000411529;ENST00000416446;ENST00000420139;ENST00000435711	D;D;D	0.89681	-2.55;-2.55;-2.55	4.11	4.11	0.48088	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.47852	D	0.000211	D	0.95755	0.8619	H	0.94385	3.53	0.80722	D	1	D;D	0.71674	0.998;0.997	D;P	0.67548	0.952;0.902	D	0.97347	0.9961	10	0.87932	D	0	.	16.7313	0.85435	0.0:0.0:1.0:0.0	.	109;131	B4DDB6;P51991	.;ROA3_HUMAN	D	131;109;109;109;131	ENSP00000376309:G131D;ENSP00000408487:G109D;ENSP00000416340:G131D	ENSP00000376309:G131D	G	+	2	0	HNRNPA3	177789001	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.659000	0.98597	2.028000	0.59812	0.467000	0.42956	GGT		0.323	HNRNPA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255729.3	NM_194247		9	45	0	0	0	1	0	9	45				
GDA	9615	broad.mit.edu	37	9	74842873	74842873	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:74842873C>T	ENST00000358399.3	+	9	930	c.837C>T	c.(835-837)caC>caT	p.H279H	GDA_ENST00000477618.1_3'UTR|GDA_ENST00000376986.1_Silent_p.H201H|GDA_ENST00000376989.3_Silent_p.H218H|GDA_ENST00000238018.4_Silent_p.H279H|GDA_ENST00000545168.1_Silent_p.H205H	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	279					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		TGATGGCACACGGCTGCTACC	0.458																																						ENST00000358399.3																			0				central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32						c.(835-837)caC>caT		guanine deaminase							112.0	86.0	94.0					9																	74842873		2203	4300	6503	SO:0001819	synonymous_variant	9615				nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	g.chr9:74842873C>T	AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.837C>T	9.37:g.74842873C>T						GDA_ENST00000238018.4_Silent_p.H279H|GDA_ENST00000545168.1_Silent_p.H205H|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000376989.3_Silent_p.H218H|GDA_ENST00000376986.1_Silent_p.H201H	p.H279H	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN		Lung(182;0.0583)	9	930	+		Myeloproliferative disorder(762;0.0122)	279					B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Silent	SNP	ENST00000358399.3	37	c.837C>T	CCDS6641.1																																																																																				0.458	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1			13	21	0	0	0	1	0	13	21				
PCSK1	5122	broad.mit.edu	37	5	95746686	95746686	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:95746686C>A	ENST00000311106.3	-	8	1124	c.887G>T	c.(886-888)aGa>aTa	p.R296I	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.R249I|PCSK1_ENST00000513085.1_Intron	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	296	Peptidase S8.				cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CTTCCCCTGTCTCCCCTAAAG	0.468																																						ENST00000311106.3																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36						c.(886-888)aGa>aTa		proprotein convertase subtilisin/kexin type 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						101.0	101.0	101.0					5																	95746686		2203	4300	6503	SO:0001583	missense	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95746686C>A		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.887G>T	5.37:g.95746686C>A	ENSP00000308024:p.Arg296Ile					PCSK1_ENST00000508626.1_Missense_Mutation_p.R249I|PCSK1_ENST00000513085.1_Intron|CTD-2337A12.1_ENST00000502645.2_RNA	p.R296I	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	8	1124	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	296			Catalytic.		B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	ENST00000311106.3	37	c.887G>T	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.865592	0.91511	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	T;T	0.81078	-1.45;-1.45	5.62	5.62	0.85841	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.92993	0.7770	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94461	0.7676	10	0.87932	D	0	-20.632	19.2542	0.93940	0.0:1.0:0.0:0.0	.	296	P29120	NEC1_HUMAN	I	296;249	ENSP00000308024:R296I;ENSP00000421600:R249I	ENSP00000308024:R296I	R	-	2	0	PCSK1	95772442	1.000000	0.71417	0.996000	0.52242	0.838000	0.47535	7.818000	0.86416	2.631000	0.89168	0.650000	0.86243	AGA		0.468	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		38	55	1	0	1.06647e-15	1	1.26908e-15	38	55				
TELO2	9894	broad.mit.edu	37	16	1559928	1559928	+	Silent	SNP	G	G	A	rs546196109	byFrequency	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:1559928G>A	ENST00000262319.6	+	21	2784	c.2505G>A	c.(2503-2505)gcG>gcA	p.A835A		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	835					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				TCCCACCCGCGTCTCCCTAGT	0.662													G|||	2	0.000399361	0.0	0.0	5008	,	,		14322	0.0		0.0	False		,,,				2504	0.002					ENST00000262319.6																			0				NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(2503-2505)gcG>gcA		telomere maintenance 2							38.0	35.0	36.0					16																	1559928		2187	4294	6481	SO:0001819	synonymous_variant	9894					chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding	g.chr16:1559928G>A	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"""TEL2, telomere maintenance 2, homolog (S. cerevisiae)"""			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.2505G>A	16.37:g.1559928G>A							p.A835A	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN			21	2784	+		Hepatocellular(780;0.219)	835					D3DU73|O75168|Q7LDV4|Q9BR21	Silent	SNP	ENST00000262319.6	37	c.2505G>A	CCDS32363.1																																																																																				0.662	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2	NM_016111		5	4	0	0	0	1	0	5	4				
MAST3	23031	broad.mit.edu	37	19	18254702	18254702	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:18254702G>T	ENST00000262811.6	+	21	2382	c.2382G>T	c.(2380-2382)gaG>gaT	p.E794D	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	794							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TCTCATCAGAGGATGAGGGGG	0.632																																						ENST00000262811.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						c.(2380-2382)gaG>gaT		microtubule associated serine/threonine kinase 3							31.0	35.0	34.0					19																	18254702		1922	4116	6038	SO:0001583	missense	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18254702G>T	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2382G>T	19.37:g.18254702G>T	ENSP00000262811:p.Glu794Asp						p.E794D	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN			21	2382	+			794					Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	c.2382G>T	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311091	0.23821	.	.	ENSG00000099308	ENST00000262811	T	0.70631	-0.5	4.61	-1.62	0.08372	.	0.253730	0.37530	N	0.002050	T	0.51329	0.1668	N	0.26092	0.79	0.38682	D	0.952569	B	0.06786	0.001	B	0.08055	0.003	T	0.21690	-1.0238	10	0.30854	T	0.27	-25.973	10.3561	0.43964	0.5702:0.0:0.4298:0.0	.	794	O60307	MAST3_HUMAN	D	794	ENSP00000262811:E794D	ENSP00000262811:E794D	E	+	3	2	MAST3	18115702	0.486000	0.25980	0.946000	0.38457	0.613000	0.37349	-0.339000	0.07832	-0.515000	0.06479	-0.424000	0.05967	GAG		0.632	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		7	32	1	0	2.7689e-08	1	3.07057e-08	7	32				
NOS1AP	9722	broad.mit.edu	37	1	162124229	162124229	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:162124229G>A	ENST00000361897.5	+	2	542	c.140G>A	c.(139-141)aGc>aAc	p.S47N	NOS1AP_ENST00000530878.1_Missense_Mutation_p.S47N|MIR4654_ENST00000577581.1_RNA	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	47	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			AGGCCCAACAGCAGGGTGGAG	0.592																																						ENST00000361897.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32						c.(139-141)aGc>aAc		nitric oxide synthase 1 (neuronal) adaptor protein							93.0	76.0	82.0					1																	162124229		2203	4300	6503	SO:0001583	missense	9722				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	g.chr1:162124229G>A	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.140G>A	1.37:g.162124229G>A	ENSP00000355133:p.Ser47Asn					NOS1AP_ENST00000530878.1_Missense_Mutation_p.S47N	p.S47N	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)		2	542	+	all_hematologic(112;0.203)		47			PID.		B7ZLF5|O43564|Q3T551|Q5VU95	Missense_Mutation	SNP	ENST00000361897.5	37	c.140G>A	CCDS1237.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370906	0.82573	.	.	ENSG00000198929	ENST00000530878;ENST00000361897	T;T	0.14640	2.49;2.49	5.36	5.36	0.76844	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.087086	0.85682	D	0.000000	T	0.20292	0.0488	L	0.56124	1.755	.	.	.	D;P;D	0.58620	0.966;0.623;0.983	P;P;D	0.67231	0.869;0.729;0.95	T	0.01149	-1.1436	9	0.31617	T	0.26	.	14.594	0.68392	0.0:0.0:1.0:0.0	.	47;47;47	E9PSG0;B7ZLF5;O75052	.;.;CAPON_HUMAN	N	47	ENSP00000431586:S47N;ENSP00000355133:S47N	ENSP00000355133:S47N	S	+	2	0	NOS1AP	160390853	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.789000	0.69029	2.497000	0.84241	0.462000	0.41574	AGC		0.592	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697		24	25	0	0	0	1	0	24	25				
RNASEL	6041	broad.mit.edu	37	1	182555660	182555660	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:182555660C>T	ENST00000367559.3	-	2	535	c.282G>A	c.(280-282)acG>acA	p.T94T	RNASEL_ENST00000539397.1_Silent_p.T94T|RNASEL_ENST00000444138.1_Silent_p.T94T	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	94					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						GGATAAAAGGCGTGGCCCCAT	0.493																																						ENST00000367559.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						c.(280-282)acG>acA		ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)							75.0	68.0	71.0					1																	182555660		2203	4300	6503	SO:0001819	synonymous_variant	6041				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding	g.chr1:182555660C>T	L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"""Ankyrin repeat domain containing"""	10050	protein-coding gene	gene with protein product		180435	"""prostate cancer 1"""	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.282G>A	1.37:g.182555660C>T						RNASEL_ENST00000539397.1_Silent_p.T94T|RNASEL_ENST00000444138.1_Silent_p.T94T	p.T94T	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN			2	535	-			94					Q5W0L2|Q6AI46	Silent	SNP	ENST00000367559.3	37	c.282G>A	CCDS1347.1																																																																																				0.493	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133		27	31	0	0	0	1	0	27	31				
CNTRL	11064	broad.mit.edu	37	9	123908452	123908452	+	Missense_Mutation	SNP	A	A	G	rs143318973		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:123908452A>G	ENST00000373855.1	+	23	3637	c.3377A>G	c.(3376-3378)cAg>cGg	p.Q1126R	CNTRL_ENST00000238341.5_Missense_Mutation_p.Q1126R|CNTRL_ENST00000373847.1_Missense_Mutation_p.Q574R|CNTRL_ENST00000373850.1_Missense_Mutation_p.Q574R			Q7Z7A1	CNTRL_HUMAN	centriolin	1126					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GTTTCTTATCAGAATGATTAC	0.368																																						ENST00000373855.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(3376-3378)cAg>cGg		centriolin		A	ARG/GLN	1,4405	2.1+/-5.4	0,1,2202	78.0	75.0	76.0		3377	5.3	1.0	9	dbSNP_134	76	0,8600		0,0,4300	no	missense	CNTRL	NM_007018.4	43	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging	1126/2326	123908452	1,13005	2203	4300	6503	SO:0001583	missense	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123908452A>G	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.3377A>G	9.37:g.123908452A>G	ENSP00000362962:p.Gln1126Arg					CNTRL_ENST00000373847.1_Missense_Mutation_p.Q574R|CNTRL_ENST00000238341.5_Missense_Mutation_p.Q1126R|CNTRL_ENST00000373850.1_Missense_Mutation_p.Q574R	p.Q1126R			Q7Z7A1	CNTRL_HUMAN			23	3637	+			1126					A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.3377A>G	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	A	15.86	2.956684	0.53293	2.27E-4	0.0	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000373851;ENST00000373850;ENST00000373847	T;T;T;T	0.38722	1.38;1.38;1.12;1.18	5.31	5.31	0.75309	.	.	.	.	.	T	0.61085	0.2319	M	0.64997	1.995	0.39630	D	0.970161	D;D	0.67145	0.996;0.993	D;D	0.75484	0.986;0.968	T	0.63550	-0.6612	9	0.46703	T	0.11	.	14.7325	0.69393	1.0:0.0:0.0:0.0	.	1126;1126	F5GZN0;Q7Z7A1	.;CNTRL_HUMAN	R	1126;1126;1126;608;574;574	ENSP00000362962:Q1126R;ENSP00000238341:Q1126R;ENSP00000362956:Q574R;ENSP00000362953:Q574R	ENSP00000238341:Q1126R	Q	+	2	0	CNTRL	122948273	1.000000	0.71417	0.998000	0.56505	0.112000	0.19704	6.133000	0.71682	2.126000	0.65437	0.533000	0.62120	CAG		0.368	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		15	38	0	0	0	1	0	15	38				
LPL	4023	broad.mit.edu	37	8	19805817	19805817	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:19805817G>A	ENST00000311322.8	+	2	685	c.215G>A	c.(214-216)aGc>aAc	p.S72N	LPL_ENST00000521994.1_3'UTR	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	72					chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	TTCAATCACAGCAGCAAAACC	0.532																																						ENST00000311322.8																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(214-216)aGc>aAc		lipoprotein lipase	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)						125.0	106.0	112.0					8																	19805817		2203	4300	6503	SO:0001583	missense	4023				fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity	g.chr8:19805817G>A		CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.215G>A	8.37:g.19805817G>A	ENSP00000309757:p.Ser72Asn					LPL_ENST00000521994.1_3'UTR	p.S72N	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	2	685	+			72					B2R5T9|Q16282|Q16283|Q96FC4	Missense_Mutation	SNP	ENST00000311322.8	37	c.215G>A	CCDS6012.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.142543	0.57044	.	.	ENSG00000175445	ENST00000524029;ENST00000522701;ENST00000311322;ENST00000535763	D;D;D	0.90788	-2.73;-2.73;-2.73	5.53	3.6	0.41247	Lipase, N-terminal (1);	0.546000	0.22352	N	0.061200	D	0.83644	0.5299	N	0.25286	0.73	0.24248	N	0.995332	B	0.23490	0.086	B	0.29176	0.099	T	0.81673	-0.0826	8	.	.	.	-24.2371	12.9692	0.58503	0.0:0.451:0.549:0.0	.	72	P06858	LIPL_HUMAN	N	72;72;72;58	ENSP00000428237:S72N;ENSP00000428557:S72N;ENSP00000309757:S72N	.	S	+	2	0	LPL	19850097	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	1.923000	0.40055	1.308000	0.44962	0.655000	0.94253	AGC		0.532	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3			4	90	0	0	0	1	0	4	90				
ACAD11	84129	broad.mit.edu	37	3	132337599	132337599	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:132337599C>A	ENST00000264990.6	-	11	2264	c.1293G>T	c.(1291-1293)gaG>gaT	p.E431D	ACAD11_ENST00000481970.2_Missense_Mutation_p.E431D|ACAD11_ENST00000355458.3_Missense_Mutation_p.E431D|ACAD11_ENST00000545291.1_Intron	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	431					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						TCCAGAGACCCTCGACTTTGG	0.423																																						ENST00000264990.6																			0				breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						c.(1291-1293)gaG>gaT		acyl-CoA dehydrogenase family, member 11							71.0	67.0	68.0					3																	132337599		2203	4300	6503	SO:0001583	missense	84129							g.chr3:132337599C>A	BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"""acyl-Coenzyme A dehydrogenase family, member 11"""				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.1293G>T	3.37:g.132337599C>A	ENSP00000264990:p.Glu431Asp					ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000355458.3_Missense_Mutation_p.E431D|ACAD11_ENST00000481970.2_Missense_Mutation_p.E431D	p.E431D	NM_032169.4	NP_115545.3					11	2264	-								Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Missense_Mutation	SNP	ENST00000264990.6	37	c.1293G>T	CCDS3074.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.612680	0.66672	.	.	ENSG00000240303	ENST00000355458;ENST00000264990;ENST00000481970	D;D;T	0.99704	-6.46;-6.46;1.8	5.52	2.29	0.28610	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	.	.	.	.	D	0.99381	0.9782	M	0.86864	2.845	0.80722	D	1	P;P	0.51449	0.945;0.796	P;P	0.50082	0.63;0.489	D	0.98402	1.0568	9	0.59425	D	0.04	.	9.5478	0.39291	0.0:0.6392:0.0:0.3608	.	431;431	D6RDI8;Q709F0	.;ACD11_HUMAN	D	431	ENSP00000347636:E431D;ENSP00000264990:E431D;ENSP00000420907:E431D	ENSP00000264990:E431D	E	-	3	2	ACAD11	133820289	0.999000	0.42202	1.000000	0.80357	0.910000	0.53928	0.627000	0.24506	0.208000	0.20626	0.650000	0.86243	GAG		0.423	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	NM_032169		16	39	1	0	1.5739e-10	1	1.79784e-10	16	39				
WBP11P1	441818	broad.mit.edu	37	18	30091887	30091887	+	RNA	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr18:30091887G>A	ENST00000567636.1	+	0	262					NR_003558.1				WW domain binding protein 11 pseudogene 1																		GACCAAGCCCGAAAGGAAGCC	0.413																																						ENST00000567636.1																			0																																																			441818							g.chr18:30091887G>A	BC059403		18q12.1	2007-05-15				ENSG00000260389			26250	pseudogene	pseudogene							Standard	NR_003558		Approved	HsT3017	uc010dmc.3				18.37:g.30091887G>A								NR_003558.1						0	262	+									RNA	SNP	ENST00000567636.1	37																																																																																						0.413	WBP11P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000435119.1			8	94	0	0	0	1	0	8	94				
PRKDC	5591	broad.mit.edu	37	8	48746868	48746868	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:48746868C>T	ENST00000314191.2	-	60	8094	c.8038G>A	c.(8038-8040)Gcc>Acc	p.A2680T	PRKDC_ENST00000338368.3_Missense_Mutation_p.A2680T|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2681	KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CTCTTGTGGGCAAACAGCAAG	0.542								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(8038-8040)Gcc>Acc	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							155.0	169.0	164.0					8																	48746868		2152	4272	6424	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48746868C>T		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.8038G>A	8.37:g.48746868C>T	ENSP00000313420:p.Ala2680Thr					PRKDC_ENST00000338368.3_Missense_Mutation_p.A2680T|PRKDC_ENST00000523565.1_5'UTR	p.A2680T	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			60	8094	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2681			KIP-binding.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.8038G>A		.	.	.	.	.	.	.	.	.	.	C	11.37	1.619833	0.28801	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02280	4.43;4.36	5.36	2.51	0.30379	.	0.375152	0.24150	N	0.041085	T	0.01627	0.0052	L	0.29908	0.895	0.21256	N	0.999748	B;B	0.14012	0.009;0.009	B;B	0.09377	0.004;0.004	T	0.49082	-0.8976	10	0.10902	T	0.67	.	5.6765	0.17751	0.1459:0.6347:0.0:0.2194	.	2680;2681	E7EUY0;P78527	.;PRKDC_HUMAN	T	2680	ENSP00000313420:A2680T;ENSP00000345182:A2680T	ENSP00000313420:A2680T	A	-	1	0	PRKDC	48909421	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	2.276000	0.43408	0.594000	0.29761	0.563000	0.77884	GCC		0.542	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		69	266	0	0	0	1	0	69	266				
PRLHR	2834	broad.mit.edu	37	10	120354500	120354500	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:120354500G>A	ENST00000369169.1	-	1	256	c.257C>T	c.(256-258)gCg>gTg	p.A86V	PRLHR_ENST00000239032.2_Missense_Mutation_p.A86V			P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	86					feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone metabolic process (GO:0042445)|neuropeptide signaling pathway (GO:0007218)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)|neuropeptide Y receptor activity (GO:0004983)			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GCGCACCCGCGCGATCACCAG	0.662																																						ENST00000239032.2																			0				large_intestine(2)|lung(8)|ovary(1)|skin(1)	12						c.(256-258)gCg>gTg		prolactin releasing hormone receptor							96.0	82.0	87.0					10																	120354500		2203	4298	6501	SO:0001583	missense	2834				female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity	g.chr10:120354500G>A	AB048946	CCDS7606.1	10q25.3-q26	2014-02-21	2005-11-24	2005-11-24	ENSG00000119973	ENSG00000119973		"""GPCR / Class A : RF amide peptide receptors"""	4464	protein-coding gene	gene with protein product		600895	"""G protein-coupled receptor 10"""	GPR10		8666380, 15885496	Standard	NM_004248		Approved	PrRPR	uc001ldp.1	P49683	OTTHUMG00000019136	ENST00000369169.1:c.257C>T	10.37:g.120354500G>A	ENSP00000358167:p.Ala86Val					PRLHR_ENST00000369169.1_Missense_Mutation_p.A86V	p.A86V	NM_004248.2	NP_004239.1	P49683	PRLHR_HUMAN		all cancers(201;0.0166)	2	395	-		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)	86					O75194|Q502U8|Q5VXR9	Missense_Mutation	SNP	ENST00000369169.1	37	c.257C>T	CCDS7606.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.953478	0.34471	.	.	ENSG00000119973	ENST00000239032;ENST00000369169	T;T	0.36699	1.24;1.24	4.86	3.96	0.45880	GPCR, rhodopsin-like superfamily (1);	0.115056	0.64402	D	0.000012	T	0.15652	0.0377	N	0.17723	0.515	0.35814	D	0.824118	P	0.40398	0.716	B	0.28385	0.089	T	0.18147	-1.0346	10	0.23891	T	0.37	.	5.6968	0.17861	0.1766:0.2844:0.5391:0.0	.	86	P49683	PRLHR_HUMAN	V	86	ENSP00000239032:A86V;ENSP00000358167:A86V	ENSP00000239032:A86V	A	-	2	0	PRLHR	120344490	0.964000	0.33143	0.953000	0.39169	0.984000	0.73092	2.408000	0.44574	1.268000	0.44264	0.655000	0.94253	GCG		0.662	PRLHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050610.1	NM_004248		32	41	0	0	0	1	0	32	41				
CEP41	95681	broad.mit.edu	37	7	130040050	130040050	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:130040050C>A	ENST00000223208.5	-	10	1073	c.803G>T	c.(802-804)gGt>gTt	p.G268V	CEP41_ENST00000541543.1_Intron|CEP41_ENST00000343969.5_Intron	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	268					cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein polyglutamylation (GO:0018095)|protein transport (GO:0015031)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|primary cilium (GO:0072372)											TGGCAGGGAACCAGTAATCAG	0.512																																						ENST00000223208.4																			0											c.(802-804)gGt>gTt		centrosomal protein 41kDa							66.0	76.0	73.0					7																	130040050		2203	4300	6503	SO:0001583	missense	95681				G2/M transition of mitotic cell cycle	centrosome|cytosol		g.chr7:130040050C>A	AJ278890	CCDS5821.1, CCDS59078.1, CCDS59079.1, CCDS59080.1	7q32	2014-02-20	2011-10-04	2011-10-04	ENSG00000106477	ENSG00000106477			12370	protein-coding gene	gene with protein product		610523	"""testis specific, 14"""	TSGA14		14654843, 22246503	Standard	NM_018718		Approved	DKFZp762H1311, FLJ22445, JBTS15	uc003vpz.4	Q9BYV8	OTTHUMG00000157823	ENST00000223208.5:c.803G>T	7.37:g.130040050C>A	ENSP00000223208:p.Gly268Val					CEP41_ENST00000343969.5_Intron|CEP41_ENST00000541543.1_Intron	p.G268V	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN			10	1073	-			268					A4D1M0|B4DQ35|F5H0V6|Q7Z496|Q86TM1|Q8NFU8|Q9H6A3|Q9NPV3	Missense_Mutation	SNP	ENST00000223208.5	37	c.803G>T	CCDS5821.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707748	0.89018	.	.	ENSG00000106477	ENST00000223208	D	0.92048	-2.96	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.96078	0.8722	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95905	0.8918	10	0.87932	D	0	-17.9887	19.1304	0.93404	0.0:1.0:0.0:0.0	.	268	Q9BYV8	CEP41_HUMAN	V	268	ENSP00000223208:G268V	ENSP00000223208:G268V	G	-	2	0	TSGA14	129827286	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	7.332000	0.79203	2.854000	0.98071	0.655000	0.94253	GGT		0.512	CEP41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349702.2	NM_018718		13	53	1	0	1.5842e-08	1	1.76366e-08	13	53				
ATL1	51062	broad.mit.edu	37	14	51081185	51081185	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:51081185G>A	ENST00000358385.6	+	8	1059	c.818G>A	c.(817-819)gGc>gAc	p.G273D	ATL1_ENST00000354525.4_Missense_Mutation_p.G273D|ATL1_ENST00000357032.3_Missense_Mutation_p.G273D|ATL1_ENST00000441560.2_Missense_Mutation_p.G273D	NM_015915.4	NP_056999.2	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	273	GB1/RHD3-type G.				axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						CCTCATCCTGGCTTAAAAGTA	0.378																																						ENST00000441560.2																			0				central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						c.(817-819)gGc>gAc		atlastin GTPase 1							123.0	107.0	113.0					14																	51081185		2203	4300	6503	SO:0001583	missense	51062				axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding	g.chr14:51081185G>A	AF131801	CCDS9700.1, CCDS32077.1	14q21.3	2014-09-17	2008-09-17	2008-09-17	ENSG00000198513	ENSG00000198513			11231	protein-coding gene	gene with protein product	"""atlastin"""	606439	"""spastic paraplegia 3A (autosomal dominant)"""	SPG3, SPG3A		8252041, 7825576	Standard	NM_015915		Approved	FSP1, AD-FSP	uc001wyd.4	Q8WXF7	OTTHUMG00000140297	ENST00000358385.6:c.818G>A	14.37:g.51081185G>A	ENSP00000351155:p.Gly273Asp					ATL1_ENST00000354525.4_Missense_Mutation_p.G273D|ATL1_ENST00000358385.6_Missense_Mutation_p.G273D|ATL1_ENST00000357032.3_Missense_Mutation_p.G273D	p.G273D	NM_001127713.1	NP_001121185.1	Q8WXF7	ATLA1_HUMAN			9	1299	+			273					A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Missense_Mutation	SNP	ENST00000358385.6	37	c.818G>A	CCDS9700.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.074308	0.55646	.	.	ENSG00000198513	ENST00000441560;ENST00000358385;ENST00000357032;ENST00000354525	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	5.63	4.73	0.59995	Guanylate-binding protein, N-terminal (1);	0.091594	0.85682	N	0.000000	D	0.89136	0.6629	M	0.93462	3.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.91755	0.5415	10	0.87932	D	0	-5.1332	13.833	0.63393	0.0737:0.0:0.9263:0.0	.	273;273	Q8WXF7;G5E9T1	ATLA1_HUMAN;.	D	273	ENSP00000413675:G273D;ENSP00000351155:G273D;ENSP00000349534:G273D;ENSP00000346522:G273D	ENSP00000346522:G273D	G	+	2	0	ATL1	50150935	1.000000	0.71417	1.000000	0.80357	0.044000	0.14063	9.751000	0.98889	1.506000	0.48736	0.563000	0.77884	GGC		0.378	ATL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276884.2			4	71	0	0	0	1	0	4	71				
MLYCD	23417	broad.mit.edu	37	16	83941859	83941859	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:83941859T>C	ENST00000262430.4	+	3	789	c.770T>C	c.(769-771)cTg>cCg	p.L257P	RP11-505K9.4_ENST00000566309.1_Missense_Mutation_p.L27P|RP11-505K9.4_ENST00000561562.1_3'UTR	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	257	Catalytic domain.				acetyl-CoA biosynthetic process (GO:0006085)|cellular lipid metabolic process (GO:0044255)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA catabolic process (GO:2001294)|positive regulation of fatty acid oxidation (GO:0046321)|regulation of glucose metabolic process (GO:0010906)|response to ischemia (GO:0002931)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	malonyl-CoA decarboxylase activity (GO:0050080)|receptor binding (GO:0005102)			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						CACGTGGCACTGACTGGTGAC	0.532																																						ENST00000262430.4																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						c.(769-771)cTg>cCg		malonyl-CoA decarboxylase							68.0	70.0	69.0					16																	83941859		1953	4120	6073	SO:0001583	missense	23417				acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity	g.chr16:83941859T>C	AF153679	CCDS42206.1	16q24	2009-02-04				ENSG00000103150			7150	protein-coding gene	gene with protein product		606761				10455107, 9869665	Standard	NM_012213		Approved	MCD, hMCD	uc002fgz.3	O95822		ENST00000262430.4:c.770T>C	16.37:g.83941859T>C	ENSP00000262430:p.Leu257Pro					RP11-505K9.4_ENST00000561562.1_RNA	p.L257P	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN			3	789	+			257					Q9UNU5|Q9Y3F2	Missense_Mutation	SNP	ENST00000262430.4	37	c.770T>C	CCDS42206.1	.	.	.	.	.	.	.	.	.	.	T	16.85	3.235808	0.58886	.	.	ENSG00000103150	ENST00000262430	D	0.95069	-3.6	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000001	D	0.98137	0.9385	H	0.96301	3.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99470	1.0945	10	0.87932	D	0	-28.168	14.9266	0.70884	0.0:0.0:0.0:1.0	.	257	O95822	DCMC_HUMAN	P	257	ENSP00000262430:L257P	ENSP00000262430:L257P	L	+	2	0	MLYCD	82499360	1.000000	0.71417	0.714000	0.30535	0.194000	0.23727	7.429000	0.80309	2.174000	0.68829	0.533000	0.62120	CTG		0.532	MLYCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433009.1	NM_012213		18	74	0	0	0	1	0	18	74				
HERC2	8924	broad.mit.edu	37	15	28447555	28447555	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:28447555C>A	ENST00000261609.7	-	46	7526	c.7418G>T	c.(7417-7419)aGg>aTg	p.R2473M		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTCGATGTTCCTTCTGGAAAA	0.572																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(7417-7419)aGg>aTg		HECT and RLD domain containing E3 ubiquitin protein ligase 2							31.0	25.0	27.0					15																	28447555		2203	4297	6500	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28447555C>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.7418G>T	15.37:g.28447555C>A	ENSP00000261609:p.Arg2473Met						p.R2473M	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	46	7526	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	2473						Missense_Mutation	SNP	ENST00000261609.7	37	c.7418G>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.746899	0.49257	.	.	ENSG00000128731	ENST00000261609	T	0.43688	0.94	3.99	2.05	0.26809	.	0.103788	0.64402	D	0.000007	T	0.31231	0.0790	L	0.47190	1.495	0.38366	D	0.944736	P	0.34462	0.454	B	0.34722	0.188	T	0.27706	-1.0066	10	0.87932	D	0	.	4.3124	0.10977	0.0:0.4728:0.0:0.5272	.	2473	O95714	HERC2_HUMAN	M	2473	ENSP00000261609:R2473M	ENSP00000261609:R2473M	R	-	2	0	HERC2	26121150	1.000000	0.71417	0.946000	0.38457	0.866000	0.49608	4.027000	0.57239	0.997000	0.38969	0.456000	0.33151	AGG		0.572	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		11	12	1	0	6.40141e-05	1	6.84579e-05	11	12				
THBS2	7058	broad.mit.edu	37	6	169640616	169640616	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:169640616C>T	ENST00000366787.3	-	7	1212	c.963G>A	c.(961-963)tgG>tgA	p.W321*	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	321	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GGCCATCCTGCCAGCAAGCTG	0.517																																					Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3																			0				NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(961-963)tgG>tgA		thrombospondin 2							93.0	89.0	90.0					6																	169640616		2203	4300	6503	SO:0001587	stop_gained	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169640616C>T		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.963G>A	6.37:g.169640616C>T	ENSP00000355751:p.Trp321*						p.W321*	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	7	1212	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	321			VWFC.		A6H8N1|A7E232|Q5RI52	Nonsense_Mutation	SNP	ENST00000366787.3	37	c.963G>A	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	39	7.464717	0.98299	.	.	ENSG00000186340	ENST00000366787	.	.	.	5.29	5.29	0.74685	.	0.416787	0.17790	U	0.161918	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.2332	18.9538	0.92650	0.0:1.0:0.0:0.0	.	.	.	.	X	321	.	ENSP00000355751:W321X	W	-	3	0	THBS2	169382541	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	7.351000	0.79395	2.469000	0.83416	0.561000	0.74099	TGG		0.517	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		5	107	0	0	0	1	0	5	107				
LTN1	26046	broad.mit.edu	37	21	30309016	30309016	+	Missense_Mutation	SNP	G	G	A	rs148488534	byFrequency	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr21:30309016G>A	ENST00000361371.5	-	26	4565	c.4486C>T	c.(4486-4488)Cgg>Tgg	p.R1496W	LTN1_ENST00000389194.2_Missense_Mutation_p.R1542W			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1496					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TACAAAGCCCGAAGCTGGTGG	0.368																																						ENST00000361371.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						c.(4486-4488)Cgg>Tgg		listerin E3 ubiquitin protein ligase 1		G	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	142.0	150.0	147.0		4624	4.3	1.0	21	dbSNP_134	147	0,8600		0,0,4300	yes	missense	LTN1	NM_015565.2	101	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	1542/1813	30309016	2,13004	2203	4300	6503	SO:0001583	missense	26046						ligase activity|zinc ion binding	g.chr21:30309016G>A	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.4486C>T	21.37:g.30309016G>A	ENSP00000354977:p.Arg1496Trp					LTN1_ENST00000389194.2_Missense_Mutation_p.R1542W	p.R1496W	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN			26	4636	-			1496					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37	c.4486C>T		.	.	.	.	.	.	.	.	.	.	G	21.6	4.166871	0.78339	4.54E-4	0.0	ENSG00000198862	ENST00000389194;ENST00000361371	T;T	0.44083	0.93;0.95	5.22	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.59945	0.2231	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64462	-0.6402	10	0.87932	D	0	.	15.2516	0.73552	0.0:0.0:0.8585:0.1415	.	1496	O94822	LTN1_HUMAN	W	1542;1496	ENSP00000373846:R1542W;ENSP00000354977:R1496W	ENSP00000354977:R1496W	R	-	1	2	LTN1	29230887	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	6.292000	0.72725	1.404000	0.46819	-0.181000	0.13052	CGG		0.368	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		68	294	0	0	0	1	0	68	294				
MYCBPAP	84073	broad.mit.edu	37	17	48605577	48605577	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:48605577G>A	ENST00000323776.5	+	16	2644	c.2482G>A	c.(2482-2484)Gtg>Atg	p.V828M	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.V791M	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GCTGAGGTCTGTGCTGGGCCT	0.532																																						ENST00000323776.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31						c.(2482-2484)Gtg>Atg		MYCBP associated protein							179.0	133.0	148.0					17																	48605577		2203	4300	6503	SO:0001583	missense	84073				cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding	g.chr17:48605577G>A	BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.2482G>A	17.37:g.48605577G>A	ENSP00000323184:p.Val828Met					MYCBPAP_ENST00000436259.2_Missense_Mutation_p.V791M	p.V828M	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.23e-09)		16	2644	+	Breast(11;1.23e-18)		791						Missense_Mutation	SNP	ENST00000323776.5	37	c.2482G>A	CCDS32680.2	.	.	.	.	.	.	.	.	.	.	G	10.67	1.414574	0.25465	.	.	ENSG00000136449	ENST00000323776;ENST00000436259	T;T	0.25085	1.82;1.83	4.82	2.78	0.32641	.	0.255697	0.26594	N	0.023507	T	0.14527	0.0351	N	0.14661	0.345	0.09310	N	0.999995	B	0.16396	0.017	B	0.22386	0.039	T	0.19614	-1.0300	10	0.49607	T	0.09	-4.5655	8.1041	0.30874	0.0:0.6109:0.3078:0.0813	.	791	Q8TBZ2	MYBPP_HUMAN	M	828;791	ENSP00000323184:V828M;ENSP00000397209:V791M	ENSP00000323184:V828M	V	+	1	0	MYCBPAP	45960576	0.919000	0.31177	0.970000	0.41538	0.574000	0.36063	1.751000	0.38339	0.434000	0.26340	-0.387000	0.06579	GTG		0.532	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1	NM_032133		23	24	0	0	0	1	0	23	24				
PLEC	5339	broad.mit.edu	37	8	144991437	144991437	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:144991437G>A	ENST00000322810.4	-	32	13132	c.12963C>T	c.(12961-12963)tcC>tcT	p.S4321S	PLEC_ENST00000357649.2_Silent_p.S4188S|PLEC_ENST00000354589.3_Silent_p.S4184S|PLEC_ENST00000527096.1_Silent_p.S4207S|PLEC_ENST00000436759.2_Silent_p.S4211S|PLEC_ENST00000354958.2_Silent_p.S4162S|PLEC_ENST00000398774.2_Silent_p.S4152S|PLEC_ENST00000345136.3_Silent_p.S4184S|PLEC_ENST00000356346.3_Silent_p.S4170S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4321	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGTCCGAGGAGGAGATGGTGA	0.612																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(12961-12963)tcC>tcT		plectin							62.0	69.0	66.0					8																	144991437		2117	4219	6336	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144991437G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.12963C>T	8.37:g.144991437G>A						PLEC_ENST00000356346.3_Silent_p.S4170S|PLEC_ENST00000345136.3_Silent_p.S4184S|PLEC_ENST00000398774.2_Silent_p.S4152S|PLEC_ENST00000354589.3_Silent_p.S4184S|PLEC_ENST00000527096.1_Silent_p.S4207S|PLEC_ENST00000354958.2_Silent_p.S4162S|PLEC_ENST00000357649.2_Silent_p.S4188S|PLEC_ENST00000436759.2_Silent_p.S4211S	p.S4321S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	13132	-			4321			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.12963C>T	CCDS43772.1																																																																																				0.612	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		10	126	0	0	0	1	0	10	126				
ZNF676	163223	broad.mit.edu	37	19	22363455	22363455	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:22363455T>C	ENST00000397121.2	-	3	1381	c.1064A>G	c.(1063-1065)cAt>cGt	p.H355R		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	355					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AATAATCTTATGTTTAGTAAG	0.388																																						ENST00000397121.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(1063-1065)cAt>cGt		zinc finger protein 676							70.0	76.0	74.0					19																	22363455		2159	4274	6433	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363455T>C	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1064A>G	19.37:g.22363455T>C	ENSP00000380310:p.His355Arg						p.H355R	NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN			3	1381	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	355					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.1064A>G	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	13.07	2.128440	0.37533	.	.	ENSG00000196109	ENST00000397121	D	0.86865	-2.18	0.85	0.85	0.18980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94981	0.8376	H	0.97983	4.12	0.18873	N	0.999983	D	0.89917	1.0	D	0.87578	0.998	D	0.85683	0.1302	9	0.87932	D	0	.	6.592	0.22651	0.0:0.0:0.0:1.0	.	355	Q8N7Q3	ZN676_HUMAN	R	355	ENSP00000380310:H355R	ENSP00000380310:H355R	H	-	2	0	ZNF676	22155295	1.000000	0.71417	0.004000	0.12327	0.004000	0.04260	5.381000	0.66208	0.166000	0.19597	0.164000	0.16699	CAT		0.388	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		59	111	0	0	0	1	0	59	111				
CCDC25	55246	broad.mit.edu	37	8	27593739	27593739	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:27593739G>T	ENST00000356537.4	-	9	714	c.621C>A	c.(619-621)ttC>ttA	p.F207L	CCDC25_ENST00000539095.1_Missense_Mutation_p.F139L|CCDC25_ENST00000522915.1_Missense_Mutation_p.F139L|RP11-16P20.3_ENST00000521510.1_RNA	NM_018246.2	NP_060716.2	Q86WR0	CCD25_HUMAN	coiled-coil domain containing 25	207						extracellular vesicular exosome (GO:0070062)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		CCTTTTACATGAATTCATCTG	0.289																																						ENST00000356537.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						c.(619-621)ttC>ttA		coiled-coil domain containing 25							139.0	131.0	134.0					8																	27593739		2203	4299	6502	SO:0001583	missense	55246							g.chr8:27593739G>T	AK001715	CCDS6062.2	8p21.1	2006-09-20			ENSG00000147419	ENSG00000147419			25591	protein-coding gene	gene with protein product						12477932	Standard	NM_018246		Approved	FLJ10853	uc003xgc.3	Q86WR0	OTTHUMG00000132173	ENST00000356537.4:c.621C>A	8.37:g.27593739G>T	ENSP00000348933:p.Phe207Leu					CCDC25_ENST00000539095.1_Missense_Mutation_p.F139L|RP11-16P20.3_ENST00000521510.1_RNA|CCDC25_ENST00000522915.1_Missense_Mutation_p.F139L	p.F207L	NM_018246.2	NP_060716.2	Q86WR0	CCD25_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)	9	714	-		Ovarian(32;0.000953)	207					Q0P663|Q96SI2|Q9NV98	Missense_Mutation	SNP	ENST00000356537.4	37	c.621C>A	CCDS6062.2	.	.	.	.	.	.	.	.	.	.	G	19.17	3.776127	0.70107	.	.	ENSG00000147419	ENST00000356537;ENST00000539095;ENST00000522915	.	.	.	5.12	3.33	0.38152	.	0.000000	0.85682	D	0.000000	T	0.78848	0.4348	M	0.89414	3.03	0.51767	D	0.999937	D	0.63880	0.993	D	0.72625	0.978	T	0.78954	-0.2000	9	0.87932	D	0	-7.3928	8.0186	0.30395	0.1882:0.0:0.8118:0.0	.	207	Q86WR0	CCD25_HUMAN	L	207;139;139	.	ENSP00000348933:F207L	F	-	3	2	CCDC25	27649658	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.796000	0.38794	0.682000	0.31407	-0.145000	0.13849	TTC		0.289	CCDC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255224.1	NM_018246		40	37	1	0	1.32136e-16	1	1.58897e-16	40	37				
MAN2A1	4124	broad.mit.edu	37	5	109200755	109200755	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:109200755A>G	ENST00000261483.4	+	21	4242	c.3190A>G	c.(3190-3192)Aat>Gat	p.N1064D	MAN2A1_ENST00000505313.1_3'UTR	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	1064					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TGGGCACTCCAATGAGGCAGC	0.473																																						ENST00000261483.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(3190-3192)Aat>Gat		mannosidase, alpha, class 2A, member 1							143.0	128.0	133.0					5																	109200755		2202	4300	6502	SO:0001583	missense	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109200755A>G		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.3190A>G	5.37:g.109200755A>G	ENSP00000261483:p.Asn1064Asp					MAN2A1_ENST00000505313.1_3'UTR	p.N1064D	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	21	4242	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	1064					Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	c.3190A>G	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	A	1.695	-0.503075	0.04261	.	.	ENSG00000112893	ENST00000261483	D	0.82803	-1.65	5.53	1.44	0.22558	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.739713	0.13367	N	0.393195	T	0.60051	0.2239	N	0.02697	-0.525	0.09310	N	0.999991	B	0.02656	0.0	B	0.06405	0.002	T	0.43925	-0.9361	9	.	.	.	-10.5441	9.8817	0.41238	0.2922:0.0:0.7078:0.0	.	1064	Q16706	MA2A1_HUMAN	D	1064	ENSP00000261483:N1064D	.	N	+	1	0	MAN2A1	109228654	0.996000	0.38824	0.006000	0.13384	0.019000	0.09904	2.733000	0.47360	0.058000	0.16222	-0.973000	0.02599	AAT		0.473	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			16	22	0	0	0	1	0	16	22				
CUL7	9820	broad.mit.edu	37	6	43018713	43018713	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:43018713G>A	ENST00000265348.3	-	4	1311	c.1226C>T	c.(1225-1227)cCt>cTt	p.P409L	CUL7_ENST00000478630.1_5'Flank|CUL7_ENST00000535468.1_Missense_Mutation_p.P493L			Q14999	CUL7_HUMAN	cullin 7	409	Interaction with TP53.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CACCTGCACAGGAGGCACACC	0.602																																						ENST00000535468.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49						c.(1477-1479)cCt>cTt		cullin 7							98.0	91.0	94.0					6																	43018713		2203	4300	6503	SO:0001583	missense	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43018713G>A	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.1226C>T	6.37:g.43018713G>A	ENSP00000265348:p.Pro409Leu					CUL7_ENST00000265348.3_Missense_Mutation_p.P409L	p.P493L	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		4	1564	-			409					B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	c.1478C>T	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.180942	0.78677	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.80909	-1.39;-1.43	5.39	5.39	0.77823	CPH domain (1);Translation protein SH3-like, subgroup (1);	0.105632	0.64402	D	0.000004	D	0.89350	0.6690	M	0.80028	2.48	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90359	0.4372	10	0.87932	D	0	-5.6348	19.141	0.93446	0.0:0.0:1.0:0.0	.	493;409	F5H0L1;Q14999	.;CUL7_HUMAN	L	409;493	ENSP00000265348:P409L;ENSP00000438788:P493L	ENSP00000265348:P409L	P	-	2	0	CUL7	43126691	1.000000	0.71417	0.989000	0.46669	0.703000	0.40648	9.559000	0.98135	2.533000	0.85409	0.563000	0.77884	CCT		0.602	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		4	107	0	0	0	1	0	4	107				
FAT3	120114	broad.mit.edu	37	11	92532716	92532716	+	Silent	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:92532716C>A	ENST00000298047.6	+	9	6554	c.6537C>A	c.(6535-6537)gtC>gtA	p.V2179V	FAT3_ENST00000409404.2_Silent_p.V2179V|FAT3_ENST00000525166.1_Silent_p.V2029V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2179	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCACTATTGTCAACAAAGCAA	0.443										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(6535-6537)gtC>gtA		FAT atypical cadherin 3							48.0	47.0	47.0					11																	92532716		1970	4167	6137	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92532716C>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.6537C>A	11.37:g.92532716C>A		TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Silent_p.V2029V|FAT3_ENST00000409404.2_Silent_p.V2179V	p.V2179V			Q8TDW7	FAT3_HUMAN			9	6554	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2179			Cadherin 19.		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.6537C>A																																																																																					0.443	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		9	40	1	0	4.68919e-08	1	5.17992e-08	9	40				
MGAM	8972	broad.mit.edu	37	7	141767225	141767225	+	Intron	SNP	C	C	T	rs7778384	byFrequency	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:141767225C>T	ENST00000549489.2	+	38	4713				MGAM_ENST00000475668.2_Splice_Site_p.R1668R	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)						carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCCTGGAGCGCGTGAGTATGG	0.592													c|||	29	0.00579073	0.0121	0.0086	5008	,	,		14537	0.001		0.004	False		,,,				2504	0.002					ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.e42+1		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						68.0	55.0	59.0					7																	141767225		874	1947	2821	SO:0001627	intron_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141767225C>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4618+1957C>T	7.37:g.141767225C>T						MGAM_ENST00000549489.2_Intron	p.R1668_splice			O43451	MGA_HUMAN			42	5058	+	Melanoma(164;0.0272)		1668			Glucoamylase.		Q0VAX6|Q75ME7|Q86UM5	Splice_Site	SNP	ENST00000549489.2	37	c.5004_splice	CCDS47727.1																																																																																				0.592	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			4	69	0	0	0	1	0	4	69				
C19orf25	148223	broad.mit.edu	37	19	1475023	1475023	+	3'UTR	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:1475023C>A	ENST00000436106.2	-	0	760				C19orf25_ENST00000592872.1_3'UTR|C19orf25_ENST00000588849.1_3'UTR|C19orf25_ENST00000586564.1_3'UTR|C19orf25_ENST00000591027.1_5'Flank|C19orf25_ENST00000585675.1_3'UTR|C19orf25_ENST00000588427.1_Intron|C19orf25_ENST00000427685.2_3'UTR|C19orf25_ENST00000588871.1_Missense_Mutation_p.G92W			Q9UFG5	CS025_HUMAN	chromosome 19 open reading frame 25														Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGCAGGCCCCGAGAGGTCA	0.701																																						ENST00000588871.1																			0											c.(274-276)Ggg>Tgg		chromosome 19 open reading frame 25							7.0	9.0	9.0					19																	1475023		1976	4131	6107	SO:0001624	3_prime_UTR_variant	148223						protein binding	g.chr19:1475023C>A	AK075267	CCDS45898.1	19p13.3	2012-10-24			ENSG00000119559	ENSG00000119559			26711	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_152482		Approved	FLJ36666	uc010dsk.3	Q9UFG5	OTTHUMG00000180092	ENST00000436106.2:c.*8G>T	19.37:g.1475023C>A						C19orf25_ENST00000427685.2_3'UTR|C19orf25_ENST00000588849.1_3'UTR|C19orf25_ENST00000436106.2_3'UTR|C19orf25_ENST00000588427.1_Intron|C19orf25_ENST00000585675.1_3'UTR|C19orf25_ENST00000592872.1_3'UTR|C19orf25_ENST00000586564.1_3'UTR	p.G92W	NM_152482.2	NP_689695.2	Q9UFG5	CS025_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	307	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	0					B3KQN6|Q8N9R7|Q8WV94	Missense_Mutation	SNP	ENST00000436106.2	37	c.274G>T	CCDS45898.1	.	.	.	.	.	.	.	.	.	.	C	6.850	0.526156	0.13066	.	.	ENSG00000119559	ENST00000335104	.	.	.	3.14	0.747	0.18371	.	0.582638	0.15243	N	0.272788	T	0.41880	0.1178	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.35251	-0.9796	6	0.59425	D	0.04	.	8.6626	0.34101	0.411:0.589:0.0:0.0	.	.	.	.	W	93	.	ENSP00000335309:G93W	G	-	1	0	C19orf25	1426023	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.035000	0.12205	0.145000	0.18977	0.511000	0.50034	GGG		0.701	C19orf25-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449694.1	NM_152482		3	10	1	0	6.4e-05	1	6.84579e-05	3	10				
DNAJC15	29103	broad.mit.edu	37	13	43643069	43643069	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr13:43643069G>A	ENST00000379221.2	+	3	588	c.164G>A	c.(163-165)cGc>cAc	p.R55H	DNAJC15_ENST00000474320.1_3'UTR	NM_013238.2	NP_037370.2	Q9Y5T4	DJC15_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 15	55					cellular response to starvation (GO:0009267)|negative regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902957)|negative regulation of protein complex assembly (GO:0031333)|protein transport (GO:0015031)|regulation of lipid metabolic process (GO:0019216)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(1)|urinary_tract(1)	4		Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737)		TATTTAGGTCGCTACGCATTT	0.333																																						ENST00000379221.2																			0				endometrium(2)|kidney(1)|urinary_tract(1)	4						c.(163-165)cGc>cAc		DnaJ (Hsp40) homolog, subfamily C, member 15							90.0	85.0	87.0					13																	43643069		2203	4300	6503	SO:0001583	missense	29103					integral to membrane	heat shock protein binding	g.chr13:43643069G>A	AF126743	CCDS9388.1	13q14.1	2011-09-02	2005-06-30	2005-06-30	ENSG00000120675	ENSG00000120675		"""Heat shock proteins / DNAJ (HSP40)"""	20325	protein-coding gene	gene with protein product		615339	"""DnaJ (Hsp40) homolog, subfamily D, member 1"""	DNAJD1		11358853	Standard	NM_013238		Approved	MCJ	uc001uyy.3	Q9Y5T4	OTTHUMG00000016813	ENST00000379221.2:c.164G>A	13.37:g.43643069G>A	ENSP00000368523:p.Arg55His					DNAJC15_ENST00000474320.1_3'UTR	p.R55H	NM_013238.2	NP_037370.2	Q9Y5T4	DJC15_HUMAN		GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737)	3	588	+		Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	55					B2R4L0|Q5T219|Q6X963	Missense_Mutation	SNP	ENST00000379221.2	37	c.164G>A	CCDS9388.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.664322	0.88251	.	.	ENSG00000120675	ENST00000379221	T	0.60424	0.19	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.73791	0.3632	M	0.86805	2.84	0.80722	D	1	D	0.65815	0.995	P	0.52159	0.691	T	0.80457	-0.1374	10	0.87932	D	0	-19.1533	18.5824	0.91176	0.0:0.0:1.0:0.0	.	55	Q9Y5T4	DJC15_HUMAN	H	55	ENSP00000368523:R55H	ENSP00000368523:R55H	R	+	2	0	DNAJC15	42541069	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.526000	0.81920	2.612000	0.88384	0.650000	0.86243	CGC		0.333	DNAJC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044709.2	NM_013238		35	9	0	0	0	1	0	35	9				
MTHFD1	4522	broad.mit.edu	37	14	64898311	64898311	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:64898311C>T	ENST00000545908.1	+	14	1770	c.1541C>T	c.(1540-1542)gCg>gTg	p.A514V	CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000216605.8_Missense_Mutation_p.A458V			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	458	Formyltetrahydrofolate synthetase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	CTCGTTGCTGCGGCCATTGAT	0.468																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)	ENST00000555709.1																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30						c.(1372-1374)gCg>gTg		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						99.0	82.0	87.0					14																	64898311		2203	4300	6503	SO:0001583	missense	4522				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding	g.chr14:64898311C>T	J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.1541C>T	14.37:g.64898311C>T	ENSP00000438588:p.Ala514Val					MTHFD1_ENST00000555252.1_Missense_Mutation_p.A438V|MTHFD1_ENST00000216605.7_Missense_Mutation_p.A514V|MTHFD1_ENST00000545908.1_Missense_Mutation_p.A514V|CTD-2555O16.2_ENST00000556640.1_RNA	p.A458V	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	14	1760	+			458			Formyltetrahydrofolate synthetase.		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	ENST00000545908.1	37	c.1373C>T		.	.	.	.	.	.	.	.	.	.	C	34	5.378167	0.95945	.	.	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605;ENST00000555252	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	5.63	5.63	0.86233	.	0.054243	0.64402	D	0.000001	T	0.72811	0.3507	H	0.94698	3.57	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.87578	0.893;0.998;0.987	T	0.80101	-0.1523	10	0.87932	D	0	-21.1671	20.0572	0.97657	0.0:1.0:0.0:0.0	.	514;458;458	F5H2F4;P11586;G3V2B8	.;C1TC_HUMAN;.	V	514;458;514;438	ENSP00000438588:A514V;ENSP00000450560:A458V;ENSP00000216605:A514V;ENSP00000451309:A438V	ENSP00000216605:A458V	A	+	2	0	MTHFD1	63968064	1.000000	0.71417	0.939000	0.37840	0.825000	0.46686	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	GCG		0.468	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1			30	94	0	0	0	1	0	30	94				
POTEH	23784	broad.mit.edu	37	22	16287774	16287774	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr22:16287774T>C	ENST00000343518.6	-	1	163	c.112A>G	c.(112-114)Agc>Ggc	p.S38G		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	38										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CTCTTGCCGCTCCCCCTGCAC	0.592																																						ENST00000343518.6																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(112-114)Agc>Ggc		POTE ankyrin domain family, member H							94.0	115.0	108.0					22																	16287774		1974	3769	5743	SO:0001583	missense	23784							g.chr22:16287774T>C	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.112A>G	22.37:g.16287774T>C	ENSP00000340610:p.Ser38Gly						p.S38G	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN			1	163	-			38					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.112A>G	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	4.828	0.154001	0.09185	.	.	ENSG00000198062	ENST00000359587;ENST00000343518;ENST00000355872	T	0.40476	1.03	.	.	.	.	.	.	.	.	T	0.27866	0.0686	L	0.29908	0.895	0.09310	N	1	B	0.31910	0.346	B	0.32289	0.143	T	0.23833	-1.0177	7	0.87932	D	0	.	.	.	.	.	38	Q6S545	POTEH_HUMAN	G	38	ENSP00000340610:S38G	ENSP00000340610:S38G	S	-	1	0	POTEH	14667774	0.000000	0.05858	0.019000	0.16419	0.019000	0.09904	-0.736000	0.04882	0.064000	0.16427	0.063000	0.15292	AGC		0.592	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		5	364	0	0	0	1	0	5	364				
MTBP	27085	broad.mit.edu	37	8	121509782	121509782	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:121509782A>G	ENST00000305949.1	+	14	1642	c.1597A>G	c.(1597-1599)Aat>Gat	p.N533D		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	533	Interaction with MDM2. {ECO:0000250}.				cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TAAAACCTTCAATATATTAAA	0.259																																						ENST00000305949.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(1597-1599)Aat>Gat		Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa							28.0	31.0	30.0					8																	121509782		2194	4290	6484	SO:0001583	missense	27085				cell cycle arrest			g.chr8:121509782A>G		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.1597A>G	8.37:g.121509782A>G	ENSP00000303398:p.Asn533Asp						p.N533D	NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		14	1642	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		533			Interaction with MDM2 (By similarity).		B4DUR5|Q9HA89	Missense_Mutation	SNP	ENST00000305949.1	37	c.1597A>G	CCDS6333.1	.	.	.	.	.	.	.	.	.	.	A	1.158	-0.644735	0.03531	.	.	ENSG00000172167	ENST00000305949	.	.	.	5.92	-0.228	0.13098	.	0.907619	0.09716	N	0.765093	T	0.26955	0.0660	L	0.36672	1.1	0.09310	N	1	B	0.12630	0.006	B	0.13407	0.009	T	0.29792	-1.0000	9	0.13108	T	0.6	-5.0641	5.8429	0.18643	0.5652:0.1356:0.2992:0.0	.	533	Q96DY7	MTBP_HUMAN	D	533	.	ENSP00000303398:N533D	N	+	1	0	MTBP	121578963	0.000000	0.05858	0.000000	0.03702	0.115000	0.19883	0.100000	0.15231	0.057000	0.16193	0.528000	0.53228	AAT		0.259	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		9	82	0	0	0	1	0	9	82				
LUC7L3	51747	broad.mit.edu	37	17	48824016	48824016	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:48824016G>T	ENST00000505658.1	+	9	1280	c.1091G>T	c.(1090-1092)aGg>aTg	p.R364M	LUC7L3_ENST00000240304.1_Missense_Mutation_p.R364M|LUC7L3_ENST00000544170.1_Missense_Mutation_p.R288M|LUC7L3_ENST00000393227.2_Missense_Mutation_p.R364M			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	364	Arg/Ser-rich.				mRNA splice site selection (GO:0006376)|RNA splicing (GO:0008380)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U1 snRNP (GO:0005685)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						TATAAGCACAGGAGCAAAAGT	0.408																																						ENST00000505658.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						c.(1090-1092)aGg>aTg		LUC7-like 3 (S. cerevisiae)							124.0	131.0	129.0					17																	48824016		2203	4300	6503	SO:0001583	missense	51747				apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding	g.chr17:48824016G>T		CCDS11573.1	17q21.33	2010-02-17			ENSG00000108848	ENSG00000108848			24309	protein-coding gene	gene with protein product	"""cisplatin resistance associated overexpressed protein"", ""CRE-associated protein"""	609434				10631324, 12565863	Standard	NM_016424		Approved	LUC7A, CROP, OA48-18, CREAP-1, FLJ11063, CRA, hLuc7A	uc002iss.3	O95232	OTTHUMG00000162257	ENST00000505658.1:c.1091G>T	17.37:g.48824016G>T	ENSP00000425092:p.Arg364Met					LUC7L3_ENST00000544170.1_Missense_Mutation_p.R288M|LUC7L3_ENST00000240304.1_Missense_Mutation_p.R364M|LUC7L3_ENST00000393227.2_Missense_Mutation_p.R364M	p.R364M			O95232	LC7L3_HUMAN			9	1280	+			364			Arg/Ser-rich.		B3KN54|D3DTY1|Q6PHR9|Q9NUY0|Q9P2S7	Missense_Mutation	SNP	ENST00000505658.1	37	c.1091G>T	CCDS11573.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	16.02|16.02|16.02	3.005577|3.005577|3.005577	0.54254|0.54254|0.54254	.|.|.	.|.|.	ENSG00000108848|ENSG00000108848|ENSG00000108848	ENST00000503728|ENST00000511974;ENST00000513969|ENST00000505658;ENST00000393227;ENST00000240304;ENST00000544170	.|.|T;T;T;T	.|.|0.36520	.|.|1.25;1.25;1.25;1.55	5.79|5.79|5.79	5.79|5.79|5.79	0.91817|0.91817|0.91817	.|.|.	.|.|0.090749	.|.|0.64402	.|.|D	.|.|0.000001	.|T|T	.|0.59348|0.59348	.|0.2187|0.2187	L|L|L	0.61218|0.61218|0.61218	1.895|1.895|1.895	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;D;D	.|.|0.76494	.|.|0.99;0.99;0.999	.|.|D;D;D	.|.|0.74674	.|.|0.962;0.962;0.984	.|T|T	.|0.59904|0.59904	.|-0.7366|-0.7366	.|5|10	.|.|0.87932	.|.|D	.|.|0	-12.4683|-12.4683|-12.4683	18.2176|18.2176|18.2176	0.89892|0.89892|0.89892	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|288;364;364	.|.|B4DJ96;O95232;A8K3C5	.|.|.;LC7L3_HUMAN;.	X|H|M	13|27;14|364;364;364;288	.|.|ENSP00000425092:R364M;ENSP00000376919:R364M;ENSP00000240304:R364M;ENSP00000444253:R288M	.|.|ENSP00000240304:R364M	G|Q|R	+|+|+	1|3|2	0|2|0	LUC7L3|LUC7L3|LUC7L3	46179015|46179015|46179015	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	7.574000|7.574000|7.574000	0.82434|0.82434|0.82434	2.734000|2.734000|2.734000	0.93682|0.93682|0.93682	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GGA|CAG|AGG		0.408	LUC7L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368205.2	NM_016424		15	73	1	0	6.31663e-08	1	6.96417e-08	15	73				
KIAA1456	57604	broad.mit.edu	37	8	12878930	12878930	+	Missense_Mutation	SNP	C	C	A	rs192687145		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:12878930C>A	ENST00000524591.2	+	5	1231	c.742C>A	c.(742-744)Cgt>Agt	p.R248S	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	248							methyltransferase activity (GO:0008168)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						AAAATCGTTTCGTTCCTGGTT	0.418																																						ENST00000524591.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(742-744)Cgt>Agt		KIAA1456							99.0	92.0	94.0					8																	12878930		1863	4103	5966	SO:0001583	missense	57604						methyltransferase activity	g.chr8:12878930C>A	BC035082	CCDS47808.1	8p22	2013-10-04	2011-02-23	2011-02-23	ENSG00000250305	ENSG00000250305			26725	protein-coding gene	gene with protein product		615666	"""chromosome 8 open reading frame 79"""	C8orf79		23381944	Standard	NM_020844		Approved	FLJ36980	uc010lsq.3	Q8N9K7	OTTHUMG00000165477	ENST00000524591.2:c.742C>A	8.37:g.12878930C>A	ENSP00000432695:p.Arg248Ser					KIAA1456_ENST00000447063.2_Intron	p.R248S	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN			5	1231	+			248					Q96AW6	Missense_Mutation	SNP	ENST00000524591.2	37	c.742C>A	CCDS47808.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.075921	0.55646	.	.	ENSG00000250305	ENST00000524591;ENST00000529978	T	0.23147	1.92	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.52500	0.1738	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.50533	-0.8817	10	0.87932	D	0	-28.7865	20.2344	0.98354	0.0:1.0:0.0:0.0	.	248	Q9P272	K1456_HUMAN	S	248;161	ENSP00000432695:R248S	ENSP00000432695:R248S	R	+	1	0	AC135352.2	12923301	1.000000	0.71417	0.642000	0.29436	0.097000	0.18754	5.766000	0.68843	2.854000	0.98071	0.655000	0.94253	CGT		0.418	KIAA1456-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383262.2	NM_001099677		13	52	1	0	3.27435e-08	1	3.62404e-08	13	52				
POU3F2	5454	broad.mit.edu	37	6	99283725	99283725	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:99283725C>T	ENST00000328345.5	+	1	1146	c.976C>T	c.(976-978)Cct>Tct	p.P326S		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	326	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		CAAGCTGAAGCCTTTGTTGAA	0.587																																						ENST00000328345.5																			0				endometrium(2)|large_intestine(3)|lung(5)	10						c.(976-978)Cct>Tct		POU class 3 homeobox 2							130.0	132.0	132.0					6																	99283725		2203	4300	6503	SO:0001583	missense	5454				positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:99283725C>T	Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"""Homeoboxes / POU class"""	9215	protein-coding gene	gene with protein product		600494	"""POU domain class 3, transcription factor 2"""	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.976C>T	6.37:g.99283725C>T	ENSP00000329170:p.Pro326Ser						p.P326S	NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0355)	1	1146	+		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)	326			POU-specific.		Q14960|Q86V54|Q9UJL0	Missense_Mutation	SNP	ENST00000328345.5	37	c.976C>T	CCDS5040.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.087376	0.76642	.	.	ENSG00000184486	ENST00000328345;ENST00000425116	T	0.80033	-1.33	4.54	4.54	0.55810	POU-specific (3);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.64402	U	0.000003	D	0.90202	0.6937	M	0.89968	3.075	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92224	0.5787	10	0.87932	D	0	.	16.2052	0.82122	0.0:1.0:0.0:0.0	.	326	P20265	PO3F2_HUMAN	S	326;259	ENSP00000329170:P326S	ENSP00000329170:P326S	P	+	1	0	POU3F2	99390446	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.589000	0.82641	2.337000	0.79520	0.555000	0.69702	CCT		0.587	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041586.2			41	186	0	0	0	1	0	41	186				
PIK3R1	5295	broad.mit.edu	37	5	67588981	67588981	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:67588981C>T	ENST00000521381.1	+	9	1688	c.1072C>T	c.(1072-1074)Cga>Tga	p.R358*	PIK3R1_ENST00000521657.1_Nonsense_Mutation_p.R358*|PIK3R1_ENST00000396611.1_Nonsense_Mutation_p.R358*|PIK3R1_ENST00000274335.5_Nonsense_Mutation_p.R358*|PIK3R1_ENST00000320694.8_Nonsense_Mutation_p.R58*|PIK3R1_ENST00000523872.1_5'UTR|PIK3R1_ENST00000336483.5_Nonsense_Mutation_p.R88*	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	358	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.R358*(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	CTTTTTGGTACGAGATGCGTC	0.378			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		3	Substitution - Nonsense(1)|Whole gene deletion(1)|Unknown(1)	p.R358*(1)|p.0?(1)|p.?(1)	large_intestine(1)|lung(1)|endometrium(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1072-1074)Cga>Tga		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)						94.0	94.0	94.0					5																	67588981		2203	4300	6503	SO:0001587	stop_gained	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67588981C>T	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1072C>T	5.37:g.67588981C>T	ENSP00000428056:p.Arg358*	TCGA GBM(4;<1E-08)				PIK3R1_ENST00000336483.5_Nonsense_Mutation_p.R88*|PIK3R1_ENST00000320694.8_Nonsense_Mutation_p.R58*|PIK3R1_ENST00000274335.5_Nonsense_Mutation_p.R358*|PIK3R1_ENST00000521657.1_Nonsense_Mutation_p.R358*|PIK3R1_ENST00000396611.1_Nonsense_Mutation_p.R358*|PIK3R1_ENST00000523872.1_5'UTR	p.R358*	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	9	1688	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	358			SH2 1.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Nonsense_Mutation	SNP	ENST00000521381.1	37	c.1072C>T	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	C	37	6.523562	0.97637	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000523807;ENST00000522084;ENST00000320694;ENST00000336483;ENST00000519025	.	.	.	5.02	5.02	0.67125	.	0.147023	0.48286	D	0.000191	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.017	18.8724	0.92320	0.0:1.0:0.0:0.0	.	.	.	.	X	358;358;358;358;88;88;58;88;31	.	ENSP00000274335:R358X	R	+	1	2	PIK3R1	67624737	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.609000	0.82925	2.770000	0.95276	0.484000	0.47621	CGA		0.378	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		43	6	0	0	0	1	0	43	6				
IL16	3603	broad.mit.edu	37	15	81578132	81578132	+	Silent	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:81578132T>C	ENST00000302987.4	+	9	1293	c.1293T>C	c.(1291-1293)ggT>ggC	p.G431G	IL16_ENST00000394660.2_Silent_p.G431G			Q14005	IL16_HUMAN	interleukin 16	431	Interaction with GRIN2A.|PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GTGATCCCGGTCCAGTCCCCA	0.517																																						ENST00000394660.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						c.(1291-1293)ggT>ggC		interleukin 16							177.0	177.0	177.0					15																	81578132		2050	4192	6242	SO:0001819	synonymous_variant	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81578132T>C	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.1293T>C	15.37:g.81578132T>C						IL16_ENST00000302987.4_Silent_p.G431G	p.G431G	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN			10	1653	+			431			Interaction with GRIN2A.|PDZ 2.		A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Silent	SNP	ENST00000302987.4	37	c.1293T>C	CCDS42069.1																																																																																				0.517	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		15	110	0	0	0	1	0	15	110				
CHCHD4	131474	broad.mit.edu	37	3	14163467	14163467	+	Intron	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:14163467G>A	ENST00000396914.3	-	1	204				CHCHD4_ENST00000295767.5_Missense_Mutation_p.S4L|TMEM43_ENST00000306077.4_5'Flank	NM_001098502.1	NP_001091972.1	Q8N4Q1	MIA40_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 4						'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein import into mitochondrial intermembrane space (GO:0045041)|protein maturation by protein folding (GO:0022417)|protein targeting to mitochondrion (GO:0006626)	mitochondrial intermembrane space (GO:0005758)	protein disulfide oxidoreductase activity (GO:0015035)	p.S4L(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						AGATGAATACGACACAGGCAT	0.493																																						ENST00000295767.5																			1	Substitution - Missense(1)	p.S4L(1)	large_intestine(1)	kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(10-12)tCg>tTg		coiled-coil-helix-coiled-coil-helix domain containing 4							106.0	89.0	95.0					3																	14163467		2203	4300	6503	SO:0001627	intron_variant	131474				protein transport|transmembrane transport	mitochondrial intermembrane space		g.chr3:14163467G>A	BC017082	CCDS2617.1, CCDS43054.1	3p25.1	2012-10-15			ENSG00000163528	ENSG00000163528		"""Coiled-coil-helix-coiled-coil-helix domain containing"""	26467	protein-coding gene	gene with protein product	"""translocase of inner mitochondrial membrane 40 homolog (S. cerevisiae)"", ""mitochondrial intermembrane space import and assembly 40 homolog (S. cerevisiae)"""	611077				22214851	Standard	NM_001098502		Approved	FLJ31709, TIMM40, MIA40	uc003byj.4	Q8N4Q1	OTTHUMG00000129805	ENST00000396914.3:c.22+2687C>T	3.37:g.14163467G>A						CHCHD4_ENST00000396914.3_Intron	p.S4L	NM_144636.2	NP_653237.1	Q8N4Q1	MIA40_HUMAN			2	335	-			0					A8K3Z9|Q96AI2|Q96MY6	Missense_Mutation	SNP	ENST00000396914.3	37	c.11C>T	CCDS43054.1	.	.	.	.	.	.	.	.	.	.	G	9.759	1.169488	0.21621	.	.	ENSG00000163528	ENST00000295767	.	.	.	0.813	-0.802	0.10889	.	.	.	.	.	T	0.26919	0.0659	.	.	.	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.26467	-1.0102	7	0.87932	D	0	.	3.1008	0.06325	0.5789:0.0:0.4211:0.0	.	4	Q8N4Q1-2	.	L	4	.	ENSP00000295767:S4L	S	-	2	0	CHCHD4	14138468	0.003000	0.15002	0.045000	0.18777	0.144000	0.21451	0.100000	0.15231	-0.331000	0.08501	0.313000	0.20887	TCG		0.493	CHCHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340423.1	NM_144636		34	8	0	0	0	1	0	34	8				
APAF1	317	broad.mit.edu	37	12	99053045	99053045	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:99053045T>C	ENST00000551964.1	+	5	1370	c.634T>C	c.(634-636)Ttt>Ctt	p.F212L	APAF1_ENST00000359972.2_Missense_Mutation_p.F201L|APAF1_ENST00000333991.1_Missense_Mutation_p.F212L|APAF1_ENST00000547045.1_Missense_Mutation_p.F212L|APAF1_ENST00000357310.1_Missense_Mutation_p.F212L|APAF1_ENST00000549007.1_Missense_Mutation_p.F212L|APAF1_ENST00000339433.3_Missense_Mutation_p.F212L|APAF1_ENST00000550527.1_Missense_Mutation_p.F201L|APAF1_ENST00000552268.1_Missense_Mutation_p.F212L	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	212	NB-ARC.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	GGATGAGAGTTTTTCCCAGAG	0.473																																						ENST00000357310.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42						c.(634-636)Ttt>Ctt		apoptotic peptidase activating factor 1	Adenosine triphosphate(DB00171)						119.0	120.0	120.0					12																	99053045		2203	4300	6503	SO:0001583	missense	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99053045T>C	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.634T>C	12.37:g.99053045T>C	ENSP00000448165:p.Phe212Leu					APAF1_ENST00000549007.1_Missense_Mutation_p.F212L|APAF1_ENST00000359972.2_Missense_Mutation_p.F201L|APAF1_ENST00000339433.3_Missense_Mutation_p.F212L|APAF1_ENST00000333991.1_Missense_Mutation_p.F212L|APAF1_ENST00000547045.1_Missense_Mutation_p.F212L|APAF1_ENST00000552268.1_Missense_Mutation_p.F212L|APAF1_ENST00000551964.1_Missense_Mutation_p.F212L|APAF1_ENST00000550527.1_Missense_Mutation_p.F201L	p.F212L	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN			5	1211	+			212			NB-ARC.		B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	37	c.634T>C	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	T	18.92	3.725863	0.69074	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000333991;ENST00000552268;ENST00000550527;ENST00000547045;ENST00000549007	T;T;T;T;T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96	5.53	5.53	0.82687	NB-ARC (1);	0.528948	0.22539	N	0.058759	T	0.58963	0.2159	N	0.02275	-0.615	0.33317	D	0.566773	B;B;B;B;P	0.52316	0.002;0.001;0.001;0.0;0.952	B;B;B;B;P	0.55508	0.003;0.001;0.002;0.001;0.777	T	0.62671	-0.6805	10	0.11182	T	0.66	-6.3931	10.3814	0.44115	0.0:0.0821:0.0:0.9179	.	212;212;201;212;201	O14727-6;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	L	212;201;212;212;212;212;201;212;212	ENSP00000448165:F212L;ENSP00000353059:F201L;ENSP00000349862:F212L;ENSP00000341830:F212L;ENSP00000334558:F212L;ENSP00000448826:F212L;ENSP00000448449:F201L;ENSP00000449791:F212L;ENSP00000448161:F212L	ENSP00000334558:F212L	F	+	1	0	APAF1	97577176	0.998000	0.40836	0.967000	0.41034	0.995000	0.86356	3.495000	0.53280	2.111000	0.64477	0.528000	0.53228	TTT		0.473	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		25	127	0	0	0	1	0	25	127				
LONRF1	91694	broad.mit.edu	37	8	12598402	12598402	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:12598402G>A	ENST00000398246.3	-	3	1013	c.944C>T	c.(943-945)gCa>gTa	p.A315V	LONRF1_ENST00000530693.1_5'UTR|LONRF1_ENST00000533751.1_5'UTR	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	315							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		TTGCAGCTTTGCAGGTGCAAA	0.388																																						ENST00000398246.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						c.(943-945)gCa>gTa		LON peptidase N-terminal domain and ring finger 1							141.0	144.0	143.0					8																	12598402		1834	4081	5915	SO:0001583	missense	91694				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr8:12598402G>A	AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"""RING-type (C3HC4) zinc fingers"""	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.944C>T	8.37:g.12598402G>A	ENSP00000381298:p.Ala315Val					LONRF1_ENST00000530693.1_5'UTR|LONRF1_ENST00000533751.1_5'UTR	p.A315V	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN		READ - Rectum adenocarcinoma(644;0.236)	3	1013	-			315					B4DM29|B4DU84|Q8TEA0|Q9BSV1	Missense_Mutation	SNP	ENST00000398246.3	37	c.944C>T	CCDS5987.2	.	.	.	.	.	.	.	.	.	.	G	22.9	4.344796	0.82022	.	.	ENSG00000154359	ENST00000398246	T	0.35421	1.31	5.35	5.35	0.76521	Tetratricopeptide-like helical (1);	1.552950	0.03468	N	0.213280	T	0.39091	0.1065	N	0.24115	0.695	0.80722	D	1	P	0.35745	0.518	B	0.41174	0.349	T	0.23904	-1.0175	10	0.17369	T	0.5	-10.2677	19.4525	0.94873	0.0:0.0:1.0:0.0	.	315	Q17RB8	LONF1_HUMAN	V	315	ENSP00000381298:A315V	ENSP00000381298:A315V	A	-	2	0	LONRF1	12642773	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.891000	0.92485	2.673000	0.90976	0.655000	0.94253	GCA		0.388	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251693.2	NM_152271		33	112	0	0	0	1	0	33	112				
GPR142	350383	broad.mit.edu	37	17	72368024	72368024	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:72368024A>G	ENST00000335666.4	+	4	722	c.674A>G	c.(673-675)cAg>cGg	p.Q225R		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	225						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CTGGCCCGCCAGGTGCCCCAG	0.617																																						ENST00000335666.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						c.(673-675)cAg>cGg		G protein-coupled receptor 142							67.0	53.0	58.0					17																	72368024		2203	4300	6503	SO:0001583	missense	350383					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	g.chr17:72368024A>G	AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"""GPCR / Class A : Orphans"""	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.674A>G	17.37:g.72368024A>G	ENSP00000335158:p.Gln225Arg						p.Q225R	NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN			4	722	+			225					A4CYJ8|Q86SL3	Missense_Mutation	SNP	ENST00000335666.4	37	c.674A>G	CCDS11698.1	.	.	.	.	.	.	.	.	.	.	A	12.13	1.845741	0.32606	.	.	ENSG00000257008	ENST00000335666	T	0.36699	1.24	4.99	2.82	0.32997	GPCR, rhodopsin-like superfamily (1);	0.686407	0.15019	N	0.285106	T	0.16685	0.0401	N	0.11106	0.095	0.25338	N	0.988974	B;B	0.18968	0.001;0.032	B;B	0.21151	0.003;0.033	T	0.24333	-1.0163	10	0.15952	T	0.53	-4.6382	5.9277	0.19122	0.7005:0.1427:0.1568:0.0	.	225;1187	Q7Z601;Q8NGB0	GP142_HUMAN;.	R	225	ENSP00000335158:Q225R	ENSP00000335158:Q225R	Q	+	2	0	GPR142	69879619	0.677000	0.27577	0.728000	0.30774	0.956000	0.61745	2.083000	0.41615	1.014000	0.39417	0.529000	0.55759	CAG		0.617	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442545.1	NM_181790		15	18	0	0	0	1	0	15	18				
BMPR1A	657	broad.mit.edu	37	10	88649931	88649931	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:88649931G>A	ENST00000372037.3	+	4	717	c.180G>A	c.(178-180)aaG>aaA	p.K60K	RNU1-19P_ENST00000363306.1_RNA	NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	60					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|developmental growth (GO:0048589)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic digit morphogenesis (GO:0042733)|embryonic organ development (GO:0048568)|endocardial cushion formation (GO:0003272)|heart formation (GO:0060914)|hindlimb morphogenesis (GO:0035137)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lateral mesoderm development (GO:0048368)|lung development (GO:0030324)|mesendoderm development (GO:0048382)|mesoderm formation (GO:0001707)|Mullerian duct regression (GO:0001880)|negative regulation of neurogenesis (GO:0050768)|neural crest cell development (GO:0014032)|neural plate mediolateral regionalization (GO:0021998)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|paraxial mesoderm structural organization (GO:0048352)|pituitary gland development (GO:0021983)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of lateral mesodermal cell fate specification (GO:0048378)|somitogenesis (GO:0001756)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway (GO:0007179)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						CTTTTTTAAAGTGCTATTGCT	0.403			"""Mis, N, F"""			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2																												Ovarian(190;603 2086 22044 30335 47971)	ENST00000372037.2			yes	Rec		Juvenile polyposis	10	10q22.3	657	"""Mis, N, F"""	"""bone morphogenetic protein receptor, type IA"""			E		gastrointestinal polyps			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						c.(178-180)aaG>aaA		bone morphogenetic protein receptor, type IA							164.0	150.0	155.0					10																	88649931		2203	4300	6503	SO:0001819	synonymous_variant	657	Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HMPS2	BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity	g.chr10:88649931G>A	BC028383	CCDS7378.1	10q22.3	2014-09-17			ENSG00000107779	ENSG00000107779		"""CD molecules"""	1076	protein-coding gene	gene with protein product		601299		ACVRLK3		8397373, 9730621	Standard	NM_004329		Approved	ALK3, CD292	uc001kdy.3	P36894	OTTHUMG00000018657	ENST00000372037.3:c.180G>A	10.37:g.88649931G>A							p.K60K	NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN			4	717	+			60					A8K6U9|Q8NEN8	Silent	SNP	ENST00000372037.3	37	c.180G>A	CCDS7378.1																																																																																				0.403	BMPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049170.3	NM_004329		85	25	0	0	0	1	0	85	25				
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGGCGGCTCATAGGGCACCAC	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM015378|CM951227	TP53	M	rs121912666	c.(658-660)tAt>tGt	Other conserved DNA damage response genes	tumor protein p53							102.0	94.0	97.0					17																	7578190		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578190T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C	p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	791	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	220		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.659A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		23	21	0	0	0	1	0	23	21				
ARNTL	406	broad.mit.edu	37	11	13375941	13375941	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:13375941G>A	ENST00000403290.1	+	5	441	c.86G>A	c.(85-87)gGt>gAt	p.G29D	ARNTL_ENST00000396441.3_Missense_Mutation_p.G29D|ARNTL_ENST00000401424.1_5'UTR|RN7SKP151_ENST00000410230.1_RNA|ARNTL_ENST00000389708.3_Missense_Mutation_p.G29D|ARNTL_ENST00000403482.3_5'Flank|ARNTL_ENST00000361003.4_Missense_Mutation_p.G29D|ARNTL_ENST00000403510.3_5'UTR|ARNTL_ENST00000389707.4_Missense_Mutation_p.G29D			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	29					circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of cell cycle (GO:0051726)|regulation of cellular senescence (GO:2000772)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|nuclear body (GO:0016604)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|Hsp90 protein binding (GO:0051879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|signal transducer activity (GO:0004871)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		AGCTCTCTTGGTACCAGTGGT	0.512																																						ENST00000389708.3																			0				breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20						c.(85-87)gGt>gAt		aryl hydrocarbon receptor nuclear translocator-like							87.0	76.0	80.0					11																	13375941		2200	4294	6494	SO:0001583	missense	406				circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr11:13375941G>A	D89722	CCDS31430.1, CCDS44543.1, CCDS73259.1	11p15	2013-05-21			ENSG00000133794	ENSG00000133794		"""Basic helix-loop-helix proteins"""	701	protein-coding gene	gene with protein product		602550				9144434, 9079689	Standard	XM_005252930		Approved	MOP3, JAP3, BMAL1, PASD3, bHLHe5	uc001mkp.3	O00327	OTTHUMG00000150623	ENST00000403290.1:c.86G>A	11.37:g.13375941G>A	ENSP00000384517:p.Gly29Asp					ARNTL_ENST00000389707.4_Missense_Mutation_p.G29D|ARNTL_ENST00000403290.1_Missense_Mutation_p.G29D|ARNTL_ENST00000361003.4_Missense_Mutation_p.G29D|ARNTL_ENST00000403510.3_5'UTR|ARNTL_ENST00000401424.1_5'UTR|ARNTL_ENST00000396441.3_Missense_Mutation_p.G29D	p.G29D			O00327	BMAL1_HUMAN		Epithelial(150;0.0243)	5	441	+			29					A2I2N6|A8K645|B5ME11|B7WPG7|D3DQW6|O00313|O00314|O00315|O00316|O00317|Q4G136|Q8IUT4|Q99631|Q99649	Missense_Mutation	SNP	ENST00000403290.1	37	c.86G>A		.	.	.	.	.	.	.	.	.	.	G	14.06	2.423885	0.43020	.	.	ENSG00000133794	ENST00000534544;ENST00000527998;ENST00000396441;ENST00000533520;ENST00000389707;ENST00000529388;ENST00000403290;ENST00000361003;ENST00000389708;ENST00000531665	T;T;T;T;T;T	0.45668	3.04;3.04;0.89;3.04;2.68;2.96	5.71	5.71	0.89125	.	0.187075	0.56097	D	0.000027	T	0.30572	0.0769	L	0.27053	0.805	0.41902	D	0.99042	B;B	0.21821	0.061;0.042	B;B	0.26310	0.045;0.068	T	0.10314	-1.0635	9	.	.	.	.	12.0209	0.53342	0.0797:0.0:0.9203:0.0	.	29;29	O00327;O00327-8	BMAL1_HUMAN;.	D	29	ENSP00000379718:G29D;ENSP00000374357:G29D;ENSP00000433571:G29D;ENSP00000384517:G29D;ENSP00000354278:G29D;ENSP00000374358:G29D	.	G	+	2	0	ARNTL	13332517	1.000000	0.71417	0.358000	0.25811	0.315000	0.28087	5.594000	0.67557	2.709000	0.92574	0.655000	0.94253	GGT		0.512	ARNTL-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000319173.1	NM_001178		13	92	0	0	0	1	0	13	92				
TANK	10010	broad.mit.edu	37	2	162091951	162091951	+	Silent	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:162091951A>G	ENST00000392749.2	+	8	1439	c.1200A>G	c.(1198-1200)caA>caG	p.Q400Q	TANK_ENST00000405852.1_3'UTR|TANK_ENST00000259075.2_Silent_p.Q400Q|AC009299.2_ENST00000445372.1_RNA|AC009299.2_ENST00000421122.2_RNA	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	400					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						AATTCTGTCAAGCAGTTTTCC	0.438																																						ENST00000392749.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						c.(1198-1200)caA>caG		TRAF family member-associated NFKB activator							143.0	137.0	139.0					2																	162091951		2203	4300	6503	SO:0001819	synonymous_variant	10010					cytosol	metal ion binding|protein binding	g.chr2:162091951A>G	U59863	CCDS2215.1, CCDS46436.1	2q24-q31	2008-02-05			ENSG00000136560	ENSG00000136560			11562	protein-coding gene	gene with protein product		603893		TRAF2		8710854, 8855313	Standard	NM_004180		Approved	I-TRAF	uc002ubr.2	Q92844	OTTHUMG00000132037	ENST00000392749.2:c.1200A>G	2.37:g.162091951A>G						AC009299.2_ENST00000445372.1_RNA|TANK_ENST00000259075.2_Silent_p.Q400Q|TANK_ENST00000405852.1_3'UTR|AC009299.2_ENST00000421122.2_RNA	p.Q400Q	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN			8	1439	+			400					D3DPB5|Q7Z4J6|Q92885	Silent	SNP	ENST00000392749.2	37	c.1200A>G	CCDS2215.1																																																																																				0.438	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324232.1	NM_133484		34	144	0	0	0	1	0	34	144				
FLG	2312	broad.mit.edu	37	1	152279854	152279854	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:152279854G>A	ENST00000368799.1	-	3	7543	c.7508C>T	c.(7507-7509)gCc>gTc	p.A2503V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2503	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCATGGGAGGCATCAGACCT	0.547									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(7507-7509)gCc>gTc		filaggrin							340.0	326.0	331.0					1																	152279854		2203	4299	6502	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152279854G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7508C>T	1.37:g.152279854G>A	ENSP00000357789:p.Ala2503Val					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.A2503V	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7543	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2503			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.7508C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	9.332	1.060894	0.19987	.	.	ENSG00000143631	ENST00000368799	T	0.01821	4.62	2.34	1.39	0.22231	.	.	.	.	.	T	0.00784	0.0026	M	0.81802	2.56	0.09310	N	1	P	0.41232	0.743	B	0.31390	0.129	T	0.47674	-0.9099	9	0.27082	T	0.32	.	4.7738	0.13169	0.1941:0.0:0.8059:0.0	.	2503	P20930	FILA_HUMAN	V	2503	ENSP00000357789:A2503V	ENSP00000357789:A2503V	A	-	2	0	FLG	150546478	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.116000	0.15561	0.310000	0.22990	0.306000	0.20318	GCC		0.547	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		144	542	0	0	0	1	0	144	542				
PIKFYVE	200576	broad.mit.edu	37	2	209179974	209179974	+	Silent	SNP	A	A	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:209179974A>T	ENST00000264380.4	+	15	2042	c.1884A>T	c.(1882-1884)tcA>tcT	p.S628S		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	628					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ATAGTGACTCACTGTCATCAT	0.423																																						ENST00000264380.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.(1882-1884)tcA>tcT		phosphoinositide kinase, FYVE finger containing							126.0	99.0	108.0					2																	209179974		2203	4300	6503	SO:0001819	synonymous_variant	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209179974A>T	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.1884A>T	2.37:g.209179974A>T							p.S628S	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN			15	2042	+			628					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Silent	SNP	ENST00000264380.4	37	c.1884A>T	CCDS2382.1																																																																																				0.423	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		42	76	0	0	0	1	0	42	76				
MYBPC2	4606	broad.mit.edu	37	19	50962564	50962564	+	Splice_Site	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:50962564G>A	ENST00000357701.5	+	23	2842		c.e23+1			NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type						cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CGCGTTGTGGGTGCGCGCGCT	0.687																																						ENST00000357701.5																			0				breast(1)	1						c.e23+1		myosin binding protein C, fast type							17.0	19.0	18.0					19																	50962564		2018	4151	6169	SO:0001630	splice_region_variant	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50962564G>A		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.2791+1G>A	19.37:g.50962564G>A								NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	23	2842	+		all_neural(266;0.057)						A1L4G9	Splice_Site	SNP	ENST00000357701.5	37		CCDS46152.1	.	.	.	.	.	.	.	.	.	.	g	18.24	3.580277	0.65992	.	.	ENSG00000086967	ENST00000357701	.	.	.	3.81	3.81	0.43845	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2992	0.73933	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYBPC2	55654376	1.000000	0.71417	0.999000	0.59377	0.643000	0.38383	8.806000	0.91930	2.061000	0.61500	0.457000	0.33378	.		0.687	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533	Intron	24	28	0	0	0	1	0	24	28				
DNAH3	55567	broad.mit.edu	37	16	20981271	20981271	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:20981271G>A	ENST00000261383.3	-	52	8300	c.8301C>T	c.(8299-8301)ctC>ctT	p.L2767L	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2767	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTGCAGCCTCGAGTGCAGGCA	0.607																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(8299-8301)ctC>ctT		dynein, axonemal, heavy chain 3							119.0	99.0	106.0					16																	20981271		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20981271G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.8301C>T	16.37:g.20981271G>A						DNAH3_ENST00000415178.1_3'UTR	p.L2767L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	52	8300	-			2767			Stalk (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.8301C>T	CCDS10594.1																																																																																				0.607	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		24	99	0	0	0	1	0	24	99				
TRPV4	59341	broad.mit.edu	37	12	110232202	110232202	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:110232202C>T	ENST00000418703.2	-	7	1517	c.1423G>A	c.(1423-1425)Gtg>Atg	p.V475M	TRPV4_ENST00000541794.1_Missense_Mutation_p.V428M|TRPV4_ENST00000392719.2_Missense_Mutation_p.V428M|TRPV4_ENST00000537083.1_Missense_Mutation_p.V415M|TRPV4_ENST00000544971.1_Missense_Mutation_p.V368M|TRPV4_ENST00000536838.1_Missense_Mutation_p.V441M|TRPV4_ENST00000346520.2_Missense_Mutation_p.V415M|TRPV4_ENST00000261740.2_Missense_Mutation_p.V475M	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	475					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TAGGAGACCACGTTGATGTAG	0.622																																						ENST00000418703.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						c.(1423-1425)Gtg>Atg		transient receptor potential cation channel, subfamily V, member 4							149.0	138.0	141.0					12																	110232202		2203	4300	6503	SO:0001583	missense	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110232202C>T	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.1423G>A	12.37:g.110232202C>T	ENSP00000406191:p.Val475Met					TRPV4_ENST00000392719.2_Missense_Mutation_p.V428M|TRPV4_ENST00000544971.1_Missense_Mutation_p.V368M|TRPV4_ENST00000537083.1_Missense_Mutation_p.V415M|TRPV4_ENST00000536838.1_Missense_Mutation_p.V441M|TRPV4_ENST00000261740.2_Missense_Mutation_p.V475M|TRPV4_ENST00000346520.2_Missense_Mutation_p.V415M|TRPV4_ENST00000541794.1_Missense_Mutation_p.V428M	p.V475M	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN			7	1517	-			475					B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	c.1423G>A	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.390359	0.82902	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	T;T;T;T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24;0.24;0.24;0.24	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.72244	0.3436	M	0.63428	1.95	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.996;0.996	D;D;D;D;P	0.71656	0.97;0.974;0.97;0.927;0.819	T	0.73244	-0.4044	10	0.45353	T	0.12	-32.5517	16.3763	0.83401	0.0:1.0:0.0:0.0	.	415;475;368;428;441	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	M	475;475;428;415;368;415;428;441	ENSP00000406191:V475M;ENSP00000261740:V475M;ENSP00000376480:V428M;ENSP00000319003:V415M;ENSP00000443611:V368M;ENSP00000442738:V415M;ENSP00000442167:V428M;ENSP00000444336:V441M	ENSP00000261740:V475M	V	-	1	0	TRPV4	108716585	0.998000	0.40836	1.000000	0.80357	0.729000	0.41735	3.735000	0.55044	2.327000	0.79052	0.561000	0.74099	GTG		0.622	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		52	69	0	0	0	1	0	52	69				
TBC1D23	55773	broad.mit.edu	37	3	100035004	100035004	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:100035004A>G	ENST00000394144.4	+	16	1667	c.1660A>G	c.(1660-1662)Att>Gtt	p.I554V	TBC1D23_ENST00000344949.5_Missense_Mutation_p.I539V|TBC1D23_ENST00000475134.1_Missense_Mutation_p.I417V|TBC1D23_ENST00000486274.1_3'UTR	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	554					positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						TGTTTTCAGCATTGGGGATGA	0.423																																						ENST00000394144.4																			0				breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						c.(1660-1662)Att>Gtt		TBC1 domain family, member 23							112.0	113.0	113.0					3																	100035004		2203	4300	6503	SO:0001583	missense	55773					intracellular	Rab GTPase activator activity	g.chr3:100035004A>G	AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.1660A>G	3.37:g.100035004A>G	ENSP00000377700:p.Ile554Val					TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000475134.1_Missense_Mutation_p.I417V|TBC1D23_ENST00000344949.5_Missense_Mutation_p.I539V	p.I554V	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN			16	1667	+			554					B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Missense_Mutation	SNP	ENST00000394144.4	37	c.1660A>G	CCDS56265.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.632297	0.87660	.	.	ENSG00000036054	ENST00000344949;ENST00000394144;ENST00000475134	T;T;T	0.53423	0.63;0.62;0.64	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.67429	0.2892	M	0.71206	2.165	0.80722	D	1	D;D	0.67145	0.994;0.996	D;D	0.77557	0.978;0.99	T	0.68401	-0.5418	9	.	.	.	.	15.7141	0.77655	1.0:0.0:0.0:0.0	.	554;539	Q9NUY8;Q9NUY8-2	TBC23_HUMAN;.	V	539;554;417	ENSP00000340693:I539V;ENSP00000377700:I554V;ENSP00000418059:I417V	.	I	+	1	0	TBC1D23	101517694	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.595000	0.90840	2.153000	0.67306	0.533000	0.62120	ATT		0.423	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353150.1	NM_018309		12	20	0	0	0	1	0	12	20				
MCM10	55388	broad.mit.edu	37	10	13214409	13214409	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:13214409C>T	ENST00000484800.2	+	4	486	c.383C>T	c.(382-384)gCc>gTc	p.A128V	MCM10_ENST00000378714.3_Missense_Mutation_p.A128V|MCM10_ENST00000378694.1_Missense_Mutation_p.A128V			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	128	N-terminal domain. {ECO:0000250}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CAAATGAAGGCCTTACAAGAG	0.403																																						ENST00000378694.1																			0				central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						c.(382-384)gCc>gTc		minichromosome maintenance complex component 10							120.0	130.0	126.0					10																	13214409		2203	4300	6503	SO:0001583	missense	55388				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding	g.chr10:13214409C>T	AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.383C>T	10.37:g.13214409C>T	ENSP00000418268:p.Ala128Val					MCM10_ENST00000484800.2_Missense_Mutation_p.A128V|MCM10_ENST00000378714.3_Missense_Mutation_p.A128V	p.A128V			Q7L590	MCM10_HUMAN			3	458	+			128					A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP	ENST00000484800.2	37	c.383C>T	CCDS7096.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.238580	0.39598	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000479669;ENST00000378694	T;T;T;T	0.17691	2.49;2.49;2.26;2.49	5.72	3.85	0.44370	.	0.544981	0.18688	N	0.133941	T	0.07143	0.0181	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.23154	-1.0196	10	0.31617	T	0.26	-23.6933	3.0906	0.06293	0.2573:0.4899:0.1272:0.1255	.	128;128;128	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	V	128;128;128;48;128	ENSP00000367986:A128V;ENSP00000418268:A128V;ENSP00000417094:A48V;ENSP00000367966:A128V	ENSP00000354945:A128V	A	+	2	0	MCM10	13254415	0.129000	0.22400	0.982000	0.44146	0.874000	0.50279	0.504000	0.22626	1.394000	0.46624	0.563000	0.77884	GCC		0.403	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751		8	327	0	0	0	1	0	8	327				
TGFBRAP1	9392	broad.mit.edu	37	2	105896983	105896983	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:105896983A>G	ENST00000393359.2	-	6	1745	c.1319T>C	c.(1318-1320)gTa>gCa	p.V440A	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.V440A			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	440					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						GCCATTTGCTACCTCTGTGCT	0.562																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	ENST00000393359.2																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(1318-1320)gTa>gCa		transforming growth factor, beta receptor associated protein 1							154.0	126.0	135.0					2																	105896983		2203	4300	6503	SO:0001583	missense	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105896983A>G	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.1319T>C	2.37:g.105896983A>G	ENSP00000377027:p.Val440Ala					TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.V440A	p.V440A			Q8WUH2	TGFA1_HUMAN			6	1745	-			440					A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	37	c.1319T>C	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	A	8.086	0.773367	0.16051	.	.	ENSG00000135966	ENST00000393359;ENST00000258449	T;T	0.43294	0.95;0.95	5.29	2.84	0.33178	.	0.363698	0.28641	N	0.014633	T	0.30885	0.0779	L	0.40543	1.245	0.39825	D	0.972893	B	0.12013	0.005	B	0.12156	0.007	T	0.09952	-1.0651	10	0.12103	T	0.63	-5.5026	12.0516	0.53509	0.7043:0.2957:0.0:0.0	.	440	Q8WUH2	TGFA1_HUMAN	A	440	ENSP00000377027:V440A;ENSP00000258449:V440A	ENSP00000258449:V440A	V	-	2	0	TGFBRAP1	105263415	0.777000	0.28628	0.354000	0.25760	0.164000	0.22412	1.882000	0.39648	0.295000	0.22570	-0.340000	0.08031	GTA		0.562	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		14	79	0	0	0	1	0	14	79				
TXNRD3NB	645840	broad.mit.edu	37	3	126291278	126291278	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:126291278A>G	ENST00000404489.2	-	1	201	c.109T>C	c.(109-111)Tgc>Cgc	p.C37R	TXNRD3NB_ENST00000383572.2_Missense_Mutation_p.C37R			Q6F5E7	TR3N_HUMAN	thioredoxin reductase 3 neighbor	37										endometrium(1)|large_intestine(2)|skin(2)	5						GTGTGGGAGCAGCAGCAAGCC	0.577																																						ENST00000383572.2																			0				endometrium(1)|large_intestine(2)|skin(2)	5						c.(109-111)Tgc>Cgc		thioredoxin reductase 3 neighbor							49.0	51.0	50.0					3																	126291278		2203	4300	6503	SO:0001583	missense	645840							g.chr3:126291278A>G	BC130546	CCDS33846.1	3q21.3	2011-04-13	2011-04-13	2011-04-13	ENSG00000206483	ENSG00000206483			33870	protein-coding gene	gene with protein product	"""thioredoxin reductase 3 new transcript 1"""		"""thioredoxin reductase 3 intronic transcript 1"""	TXNRD3IT1		15674732	Standard	NM_001039783		Approved	TR2IT1, TXNRD3NT1	uc003ejc.3	Q6F5E7	OTTHUMG00000162732	ENST00000404489.2:c.109T>C	3.37:g.126291278A>G	ENSP00000384071:p.Cys37Arg					TXNRD3NB_ENST00000404489.2_Missense_Mutation_p.C37R	p.C37R	NM_001039783.1	NP_001034872.1	Q6F5E7	TR3N_HUMAN			3	587	-			37						Missense_Mutation	SNP	ENST00000404489.2	37	c.109T>C	CCDS33846.1	.	.	.	.	.	.	.	.	.	.	A	0.697	-0.792227	0.02884	.	.	ENSG00000206483	ENST00000383572;ENST00000404489	.	.	.	0.661	0.661	0.17874	.	.	.	.	.	T	0.13157	0.0319	N	0.08118	0	0.09310	N	1	D	0.53462	0.96	B	0.38156	0.266	T	0.13737	-1.0498	7	0.87932	D	0	.	.	.	.	.	37	Q6F5E7	TR3N_HUMAN	R	37	.	ENSP00000373066:C37R	C	-	1	0	TXNRD3NB	127773968	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	0.037000	0.13840	0.536000	0.28733	0.383000	0.25322	TGC		0.577	TXNRD3NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370233.2	NM_001039783		19	74	0	0	0	1	0	19	74				
LGALS9	3965	broad.mit.edu	37	17	25958323	25958323	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:25958323T>C	ENST00000395473.2	+	1	1500	c.32T>C	c.(31-33)cTg>cCg	p.L11P	AC015688.3_ENST00000584605.1_Intron|LGALS9_ENST00000310394.5_Missense_Mutation_p.L11P|LGALS9_ENST00000302228.5_Missense_Mutation_p.L11P|LGALS9_ENST00000448970.2_3'UTR|LGALS9_ENST00000313648.6_Missense_Mutation_p.L11P|LGALS9_ENST00000413914.2_5'UTR	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	11					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|galactose binding (GO:0005534)|signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		GCTCCCTACCTGAGTCCAGTG	0.627																																					Melanoma(106;677 1527 28724 29571 46552)|Ovarian(193;263 2088 2118 29005 43023)	ENST00000395473.2																			0				endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18						c.(31-33)cTg>cCg		lectin, galactoside-binding, soluble, 9							61.0	60.0	60.0					17																	25958323		2203	4300	6503	SO:0001583	missense	3965				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity	g.chr17:25958323T>C	AB006782	CCDS11222.1, CCDS32592.1	17q11.2	2013-03-28	2008-07-25		ENSG00000168961	ENSG00000168961		"""Lectins, galactoside-binding"""	6570	protein-coding gene	gene with protein product	"""galectin 9"""	601879				9045665	Standard	NM_009587		Approved	LGALS9A	uc002gzp.3	O00182	OTTHUMG00000179831	ENST00000395473.2:c.32T>C	17.37:g.25958323T>C	ENSP00000378856:p.Leu11Pro					LGALS9_ENST00000448970.2_3'UTR|LGALS9_ENST00000413914.2_5'UTR|LGALS9_ENST00000313648.6_Missense_Mutation_p.L11P|LGALS9_ENST00000310394.5_Missense_Mutation_p.L11P|LGALS9_ENST00000302228.5_Missense_Mutation_p.L11P|AC015688.3_ENST00000584605.1_Intron	p.L11P	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)	1	1500	+	Lung NSC(42;0.0103)		11					A7VJG6|O14532|O75028|Q3B8N1|Q53FQ0|Q9NQ58	Missense_Mutation	SNP	ENST00000395473.2	37	c.32T>C	CCDS11222.1	.	.	.	.	.	.	.	.	.	.	T	5.601	0.295636	0.10622	.	.	ENSG00000168961	ENST00000395473;ENST00000302228;ENST00000310394;ENST00000313648;ENST00000448970	T;T;T;T	0.12465	2.68;2.68;2.68;2.68	2.57	2.57	0.30868	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	1.153370	0.06517	N	0.739073	T	0.28928	0.0718	M	0.69823	2.125	0.27744	N	0.94439	P;P;P	0.51791	0.948;0.85;0.852	P;P;P	0.55824	0.785;0.519;0.614	T	0.10428	-1.0630	10	0.42905	T	0.14	.	7.0488	0.25061	0.0:0.0:0.0:1.0	.	11;11;11	F8W9W4;Q3B8N1;O00182	.;.;LEG9_HUMAN	P	11	ENSP00000378856:L11P;ENSP00000306228:L11P;ENSP00000312259:L11P;ENSP00000318214:L11P	ENSP00000306228:L11P	L	+	2	0	LGALS9	22982450	0.028000	0.19301	0.005000	0.12908	0.044000	0.14063	1.466000	0.35310	1.450000	0.47717	0.460000	0.39030	CTG		0.627	LGALS9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255583.1	NM_009587		7	63	0	0	0	1	0	7	63				
KBTBD4	55709	broad.mit.edu	37	11	47599055	47599055	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:47599055G>A	ENST00000526005.1	-	2	650	c.497C>T	c.(496-498)gCc>gTc	p.A166V	KBTBD4_ENST00000525720.1_Missense_Mutation_p.A215V|NDUFS3_ENST00000529276.1_5'Flank|KBTBD4_ENST00000533290.1_Missense_Mutation_p.A191V|KBTBD4_ENST00000450908.1_5'Flank|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000395288.2_Missense_Mutation_p.A166V|RNU5E-10P_ENST00000363506.1_RNA|NDUFS3_ENST00000528192.1_5'Flank|NDUFS3_ENST00000534716.2_5'Flank|KBTBD4_ENST00000430070.2_Missense_Mutation_p.A182V|NDUFS3_ENST00000263774.4_5'Flank|NDUFS3_ENST00000534208.1_5'Flank			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	166	BACK.									NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						ACAGTGCTTGGCAGCCGTATA	0.542																																						ENST00000533290.1																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						c.(571-573)gCc>gTc		kelch repeat and BTB (POZ) domain containing 4							130.0	129.0	130.0					11																	47599055		2201	4298	6499	SO:0001583	missense	55709							g.chr11:47599055G>A	AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"""BTB/POZ domain containing"""	23761	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 4"""	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.497C>T	11.37:g.47599055G>A	ENSP00000433340:p.Ala166Val					KBTBD4_ENST00000395288.2_Missense_Mutation_p.A166V|KBTBD4_ENST00000430070.2_Missense_Mutation_p.A182V|KBTBD4_ENST00000525720.1_Missense_Mutation_p.A215V|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000526005.1_Missense_Mutation_p.A166V	p.A191V			Q9NVX7	KBTB4_HUMAN			1	1286	-			166			BACK.		D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Missense_Mutation	SNP	ENST00000526005.1	37	c.572C>T	CCDS7940.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	30|30	5.050516|5.050516	0.93740|0.93740	.|.	.|.	ENSG00000123444|ENSG00000123444	ENST00000526005;ENST00000533290;ENST00000395288;ENST00000430070;ENST00000525720;ENST00000529499|ENST00000359900	T;T;T;T;T;T|.	0.71934|.	-0.61;-0.61;-0.61;-0.61;-0.61;-0.61|.	5.5|5.5	4.59|4.59	0.56863|0.56863	BTB/Kelch-associated (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72486|0.72486	0.3466|0.3466	M|M	0.84846|0.84846	2.72|2.72	0.80722|0.80722	D|D	1|1	D;D;D|.	0.69078|.	0.996;0.997;0.997|.	D;D;D|.	0.79108|.	0.986;0.992;0.992|.	T|T	0.71364|0.71364	-0.4615|-0.4615	10|6	0.87932|0.09338	D|T	0|0.73	-13.2968|-13.2968	14.2719|14.2719	0.66157|0.66157	0.0719:0.0:0.9281:0.0|0.0719:0.0:0.9281:0.0	.|.	182;166;191|.	Q9NVX7-2;Q9NVX7;B3KRH9|.	.;KBTB4_HUMAN;.|.	V|S	166;191;166;182;215;166|176	ENSP00000433340:A166V;ENSP00000436713:A191V;ENSP00000378703:A166V;ENSP00000415106:A182V;ENSP00000434477:A215V;ENSP00000433404:A166V|.	ENSP00000378703:A166V|ENSP00000352971:P176S	A|P	-|-	2|1	0|0	KBTBD4|KBTBD4	47555631|47555631	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	9.472000|9.472000	0.97709|0.97709	1.332000|1.332000	0.45431|0.45431	0.456000|0.456000	0.33151|0.33151	GCC|CCA		0.542	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000391763.1	NM_016506		31	209	0	0	0	1	0	31	209				
SYT12	91683	broad.mit.edu	37	11	66807584	66807584	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:66807584G>T	ENST00000393946.2	+	7	1693	c.531G>T	c.(529-531)aaG>aaT	p.K177N	SYT12_ENST00000527043.1_Missense_Mutation_p.K177N|SYT12_ENST00000525457.1_Missense_Mutation_p.K177N|SYT12_ENST00000526281.1_3'UTR			Q8IV01	SYT12_HUMAN	synaptotagmin XII	177	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|synapse (GO:0045202)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						TGCAGGGCAAGGACCTCCTGG	0.632																																					Ovarian(65;2862 3307)	ENST00000393946.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						c.(529-531)aaG>aaT		synaptotagmin XII							60.0	59.0	59.0					11																	66807584		2200	4295	6495	SO:0001583	missense	91683					cell junction|integral to membrane|synaptic vesicle membrane		g.chr11:66807584G>T	AK024280	CCDS8154.1	11q13.2	2014-07-02			ENSG00000173227	ENSG00000173227		"""Synaptotagmins"""	18381	protein-coding gene	gene with protein product		606436				8987811	Standard	NM_177963		Approved	SRG1	uc001oju.3	Q8IV01	OTTHUMG00000167101	ENST00000393946.2:c.531G>T	11.37:g.66807584G>T	ENSP00000377520:p.Lys177Asn					SYT12_ENST00000526281.1_3'UTR|SYT12_ENST00000525457.1_Missense_Mutation_p.K177N|SYT12_ENST00000527043.1_Missense_Mutation_p.K177N	p.K177N			Q8IV01	SYT12_HUMAN			7	1693	+			177			C2 1.			Missense_Mutation	SNP	ENST00000393946.2	37	c.531G>T	CCDS8154.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387072	0.61956	.	.	ENSG00000173227	ENST00000393946;ENST00000525457;ENST00000527043	T;T;T	0.71934	-0.61;-0.61;-0.61	5.63	2.7	0.31948	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.109041	0.64402	D	0.000008	T	0.64170	0.2574	L	0.32530	0.975	0.80722	D	1	P	0.39862	0.692	P	0.50270	0.636	T	0.55121	-0.8190	10	0.18276	T	0.48	.	7.05	0.25067	0.3428:0.0:0.6572:0.0	.	177	Q8IV01	SYT12_HUMAN	N	177	ENSP00000377520:K177N;ENSP00000431400:K177N;ENSP00000435316:K177N	ENSP00000377520:K177N	K	+	3	2	SYT12	66564160	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	2.167000	0.42415	0.712000	0.32039	0.462000	0.41574	AAG		0.632	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393129.1	NM_177963		5	44	1	0	0.014758	1	0.0149681	5	44				
LAD1	3898	broad.mit.edu	37	1	201352259	201352259	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:201352259G>A	ENST00000391967.2	-	7	1630	c.1329C>T	c.(1327-1329)caC>caT	p.H443H	LAD1_ENST00000488842.1_5'UTR|LAD1_ENST00000367313.3_Silent_p.H457H	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	443						basement membrane (GO:0005604)	structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						TCTCAAAGAGGTGGCGCTTGC	0.592																																						ENST00000391967.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						c.(1327-1329)caC>caT		ladinin 1							76.0	84.0	82.0					1																	201352259		2203	4300	6503	SO:0001819	synonymous_variant	3898					basement membrane	structural molecule activity	g.chr1:201352259G>A	U42408	CCDS1410.1	1q25.1-q32.3	2008-02-05			ENSG00000159166	ENSG00000159166			6472	protein-coding gene	gene with protein product		602314				8618013, 9119369	Standard	NM_005558		Approved		uc001gwm.3	O00515	OTTHUMG00000035737	ENST00000391967.2:c.1329C>T	1.37:g.201352259G>A						LAD1_ENST00000488842.1_5'UTR|LAD1_ENST00000367313.3_Silent_p.H457H	p.H443H	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN			7	1630	-			443					O95614|Q96GD8	Silent	SNP	ENST00000391967.2	37	c.1329C>T	CCDS1410.1																																																																																				0.592	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086946.1	NM_005558		50	171	0	0	0	1	0	50	171				
TCEB2	6923	broad.mit.edu	37	16	2821598	2821598	+	3'UTR	SNP	C	C	T	rs79638577	byFrequency	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:2821598C>T	ENST00000409906.4	-	0	807				AC092117.2_ENST00000581119.1_RNA|TCEB2_ENST00000409477.1_3'UTR|TCEB2_ENST00000262306.7_Missense_Mutation_p.V121I	NM_007108.3	NP_009039.1	Q15370	ELOB_HUMAN	transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B)						cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein complex assembly (GO:0006461)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|elongin complex (GO:0070449)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|prostate(1)	3						TGGGAGTGGACATGCAGGCTA	0.557																																					GBM(141;5215 5962)	ENST00000262306.7																			0				endometrium(2)|prostate(1)	3						c.(361-363)Gtc>Atc		transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B)							80.0	77.0	78.0					16																	2821598		2198	4300	6498	SO:0001624	3_prime_UTR_variant	6923				positive regulation of viral transcription|protein complex assembly|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|nucleoplasm	protein binding	g.chr16:2821598C>T	L42856	CCDS32374.1, CCDS45387.1	16p12.3	2008-02-05	2002-08-29		ENSG00000103363	ENSG00000103363			11619	protein-coding gene	gene with protein product		600787	"""transcription elongation factor B (SIII), polypeptide 2 (18kD, elongin B)"""			7638163	Standard	NM_007108		Approved	SIII	uc002crm.3	Q15370	OTTHUMG00000154125	ENST00000409906.4:c.*393G>A	16.37:g.2821598C>T						TCEB2_ENST00000409906.4_3'UTR|TCEB2_ENST00000409477.1_3'UTR	p.V121I	NM_207013.2	NP_996896.1	Q15370	ELOB_HUMAN			5	398	-			0					B7WPD3	Missense_Mutation	SNP	ENST00000409906.4	37	c.361G>A	CCDS45387.1	.	.	.	.	.	.	.	.	.	.	C	8.196	0.797093	0.16327	.	.	ENSG00000103363	ENST00000262306	.	.	.	2.87	0.649	0.17806	.	.	.	.	.	T	0.17152	0.0412	N	0.08118	0	0.09310	N	0.999998	B	0.23854	0.092	B	0.21917	0.037	T	0.20571	-1.0271	8	0.59425	D	0.04	.	4.7633	0.13118	0.0:0.6428:0.0:0.3572	.	121	B7WPD3	.	I	121	.	ENSP00000262306:V121I	V	-	1	0	TCEB2	2761599	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.899000	0.04101	0.187000	0.20147	-0.192000	0.12808	GTC		0.557	TCEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333975.2	NM_007108		4	131	0	0	0	1	0	4	131				
ABCF3	55324	broad.mit.edu	37	3	183910459	183910459	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:183910459G>A	ENST00000429586.2	+	17	1825	c.1640G>A	c.(1639-1641)gGc>gAc	p.G547D	EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Missense_Mutation_p.G541D	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	547	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCTGTTCGGGGCATCAGACAC	0.572																																						ENST00000429586.2																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39						c.(1639-1641)gGc>gAc		ATP-binding cassette, sub-family F (GCN20), member 3							46.0	43.0	44.0					3																	183910459		2203	4300	6503	SO:0001583	missense	55324						ATP binding|ATPase activity	g.chr3:183910459G>A	U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"""ATP binding cassette transporters / subfamily F"""	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.1640G>A	3.37:g.183910459G>A	ENSP00000411471:p.Gly547Asp					ABCF3_ENST00000292808.5_Missense_Mutation_p.G541D|EIF2B5_ENST00000444495.1_Intron	p.G547D	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		17	1825	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		547			ABC transporter 2.		A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Missense_Mutation	SNP	ENST00000429586.2	37	c.1640G>A	CCDS3254.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.443677	0.63067	.	.	ENSG00000161204	ENST00000429586;ENST00000292808	D;D	0.97906	-4.6;-4.6	5.45	5.45	0.79879	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.99302	0.9756	H	0.97874	4.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98676	1.0690	10	0.87932	D	0	-22.9286	18.2863	0.90115	0.0:0.0:1.0:0.0	.	541;547	Q9NUQ8-2;Q9NUQ8	.;ABCF3_HUMAN	D	547;541	ENSP00000411471:G547D;ENSP00000292808:G541D	ENSP00000292808:G541D	G	+	2	0	ABCF3	185393153	1.000000	0.71417	0.937000	0.37676	0.039000	0.13416	9.476000	0.97823	2.546000	0.85860	0.655000	0.94253	GGC		0.572	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	NM_018358		7	16	0	0	0	1	0	7	16				
IDH2	3418	broad.mit.edu	37	15	90631934	90631934	+	Missense_Mutation	SNP	C	C	T	rs121913502		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:90631934C>T	ENST00000330062.3	-	4	532	c.419G>A	c.(418-420)cGg>cAg	p.R140Q	IDH2_ENST00000540499.2_Missense_Mutation_p.R88Q|IDH2_ENST00000539790.1_Missense_Mutation_p.R10Q|IDH2_ENST00000559482.1_Intron	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	140	Substrate binding. {ECO:0000250}.		R -> G (in D2HGA2). {ECO:0000269|PubMed:20847235}.|R -> Q (in D2HGA2). {ECO:0000269|PubMed:20847235}.		2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R140Q(292)|p.R140L(8)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			CAGGATGTTCCGGATAGTTCC	0.537			M		GBM																																	ENST00000330062.3				Dom	yes		15	15q26.1	3418	M	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """			M			GBM		300	Substitution - Missense(300)	p.R140Q(292)|p.R140L(8)	haematopoietic_and_lymphoid_tissue(300)	biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(418-420)cGg>cAg		isocitrate dehydrogenase 2 (NADP+), mitochondrial							103.0	103.0	103.0					15																	90631934		2200	4298	6498	SO:0001583	missense	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90631934C>T		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.419G>A	15.37:g.90631934C>T	ENSP00000331897:p.Arg140Gln					IDH2_ENST00000540499.2_Missense_Mutation_p.R88Q|IDH2_ENST00000539790.1_Missense_Mutation_p.R10Q|IDH2_ENST00000559482.1_Intron	p.R140Q	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		4	532	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		140		R -> G (in D2HGA2).|R -> Q (in D2HGA2).	Substrate binding (By similarity).		B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	c.419G>A	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604397	0.66445	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.87179	-2.22;-2.22;-2.22	5.67	4.75	0.60458	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95449	0.8522	H	0.96833	3.89	0.48185	D	0.999601	D	0.89917	1.0	D	0.87578	0.998	D	0.96254	0.9185	10	0.87932	D	0	.	12.4459	0.55651	0.0:0.9189:0.0:0.0811	.	140	P48735	IDHP_HUMAN	Q	140;10;88	ENSP00000331897:R140Q;ENSP00000438457:R10Q;ENSP00000446147:R88Q	ENSP00000331897:R140Q	R	-	2	0	IDH2	88432938	1.000000	0.71417	1.000000	0.80357	0.051000	0.14879	7.797000	0.85911	1.397000	0.46682	-0.258000	0.10820	CGG		0.537	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			23	62	0	0	0	1	0	23	62				
AHNAK2	113146	broad.mit.edu	37	14	105411586	105411586	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:105411586A>G	ENST00000333244.5	-	7	10321	c.10202T>C	c.(10201-10203)aTg>aCg	p.M3401T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3401						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CACTTTGGGCATCTTGAAACT	0.627																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(10201-10203)aTg>aCg		AHNAK nucleoprotein 2							172.0	187.0	182.0					14																	105411586		1886	4105	5991	SO:0001583	missense	113146					nucleus		g.chr14:105411586A>G	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.10202T>C	14.37:g.105411586A>G	ENSP00000353114:p.Met3401Thr					AHNAK2_ENST00000557457.1_Intron	p.M3401T	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	10321	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3401					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.10202T>C	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	a	9.417	1.082086	0.20309	.	.	ENSG00000185567	ENST00000333244	T	0.01397	4.94	4.22	4.22	0.49857	.	.	.	.	.	T	0.05318	0.0141	M	0.79805	2.47	0.25655	N	0.986067	D	0.63880	0.993	P	0.59889	0.865	T	0.21484	-1.0244	9	0.10111	T	0.7	.	9.5206	0.39133	0.8226:0.1774:0.0:0.0	.	3401	Q8IVF2	AHNK2_HUMAN	T	3401	ENSP00000353114:M3401T	ENSP00000353114:M3401T	M	-	2	0	AHNAK2	104482631	0.013000	0.17824	0.960000	0.40013	0.253000	0.25986	0.411000	0.21115	1.792000	0.52537	0.402000	0.26972	ATG		0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		216	333	0	0	0	1	0	216	333				
KIF13B	23303	broad.mit.edu	37	8	29018290	29018290	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:29018290G>A	ENST00000524189.1	-	13	1402	c.1364C>T	c.(1363-1365)gCt>gTt	p.A455V	KIF13B_ENST00000521515.1_Missense_Mutation_p.A455V	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	455					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		AGCTGGGTCAGCATTCAGATT	0.388																																						ENST00000524189.1																			0				endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28						c.(1363-1365)gCt>gTt		kinesin family member 13B							94.0	89.0	91.0					8																	29018290		1863	4101	5964	SO:0001583	missense	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:29018290G>A	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.1364C>T	8.37:g.29018290G>A	ENSP00000427900:p.Ala455Val					KIF13B_ENST00000521515.1_Missense_Mutation_p.A455V	p.A455V	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	13	1402	-		Ovarian(32;0.000536)	455					B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	c.1364C>T	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.627426	0.66901	.	.	ENSG00000197892	ENST00000524189;ENST00000521515	T;T	0.77489	-1.1;-1.02	5.0	5.0	0.66597	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	D	0.88093	0.6344	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.997	D;D;D	0.85130	0.985;0.997;0.964	D	0.88999	0.3420	10	0.66056	D	0.02	.	18.4925	0.90853	0.0:0.0:1.0:0.0	.	441;455;455	C9JK41;Q9NQT8;F8VPJ2	.;KI13B_HUMAN;.	V	455	ENSP00000427900:A455V;ENSP00000429201:A455V	ENSP00000429201:A455V	A	-	2	0	KIF13B	29074209	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	9.581000	0.98210	2.607000	0.88179	0.655000	0.94253	GCT		0.388	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			5	69	0	0	0	1	0	5	69				
SPTBN2	6712	broad.mit.edu	37	11	66461787	66461787	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:66461787G>A	ENST00000533211.1	-	22	4657	c.4326C>T	c.(4324-4326)atC>atT	p.I1442I	SPTBN2_ENST00000309996.2_Silent_p.I1442I|SPTBN2_ENST00000529997.1_Silent_p.I1442I			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1442					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCTGGGCCTGGATTGCCTCCA	0.607											OREG0021113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(4324-4326)atC>atT		spectrin, beta, non-erythrocytic 2							69.0	55.0	60.0					11																	66461787		2200	4295	6495	SO:0001819	synonymous_variant	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66461787G>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.4326C>T	11.37:g.66461787G>A			OREG0021113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1092	SPTBN2_ENST00000529997.1_Silent_p.I1442I|SPTBN2_ENST00000309996.2_Silent_p.I1442I	p.I1442I			O15020	SPTN2_HUMAN			22	4657	-			1442					O14872|O14873	Silent	SNP	ENST00000533211.1	37	c.4326C>T	CCDS8150.1																																																																																				0.607	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		14	35	0	0	0	1	0	14	35				
ICAM1	3383	broad.mit.edu	37	19	10395480	10395480	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:10395480G>T	ENST00000264832.3	+	6	1527	c.1202G>T	c.(1201-1203)aGg>aTg	p.R401M	ICAM4_ENST00000380770.3_5'Flank|CTD-2369P2.5_ENST00000592893.1_RNA|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000340992.4_5'Flank|ICAM1_ENST00000423829.2_Missense_Mutation_p.R179M|ICAM4_ENST00000393717.2_5'Flank	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	401					adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	CTGGACGAGAGGGATTGTCCG	0.567																																						ENST00000264832.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1201-1203)aGg>aTg		intercellular adhesion molecule 1	Natalizumab(DB00108)|Simvastatin(DB00641)						55.0	53.0	54.0					19																	10395480		2203	4300	6503	SO:0001583	missense	3383				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	g.chr19:10395480G>T		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5344	protein-coding gene	gene with protein product	"""human rhinovirus receptor"""	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.1202G>T	19.37:g.10395480G>T	ENSP00000264832:p.Arg401Met					ICAM1_ENST00000423829.2_Missense_Mutation_p.R179M|CTD-2369P2.5_ENST00000592893.1_RNA	p.R401M	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		6	1527	+			401					B2R6M3|Q5NKV7|Q96B50	Missense_Mutation	SNP	ENST00000264832.3	37	c.1202G>T	CCDS12231.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.924617	0.34002	.	.	ENSG00000090339	ENST00000264832;ENST00000423829	T;T	0.04502	4.35;3.61	3.51	-5.61	0.02489	Immunoglobulin-like fold (1);	3.852210	0.01008	N	0.003796	T	0.13927	0.0337	M	0.67953	2.075	0.09310	N	1	D;B	0.71674	0.998;0.435	D;B	0.63192	0.912;0.282	T	0.43410	-0.9393	10	0.48119	T	0.1	-2.0409	5.763	0.18211	0.5053:0.1409:0.3538:0.0	.	179;401	E7ESS4;P05362	.;ICAM1_HUMAN	M	401;179	ENSP00000264832:R401M;ENSP00000413124:R179M	ENSP00000264832:R401M	R	+	2	0	ICAM1	10256480	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.229000	0.01208	-1.028000	0.03321	-1.327000	0.01280	AGG		0.567	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1			7	56	1	0	0.0293803	1	0.029588	7	56				
OR2W3	343171	broad.mit.edu	37	1	248059210	248059210	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:248059210G>T	ENST00000360358.3	+	1	322	c.322G>T	c.(322-324)Ggt>Tgt	p.G108C	OR2W3_ENST00000537741.1_Missense_Mutation_p.G108C	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCTGGGTCTGGGTGGTGTGGA	0.567																																						ENST00000537741.1																			0				breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49						c.(322-324)Ggt>Tgt		olfactory receptor, family 2, subfamily W, member 3							132.0	105.0	114.0					1																	248059210		2203	4300	6503	SO:0001583	missense	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059210G>T	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.322G>T	1.37:g.248059210G>T	ENSP00000353516:p.Gly108Cys					OR2W3_ENST00000360358.3_Missense_Mutation_p.G108C	p.G108C			Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	579	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		108					Q6IF06|Q8NG86	Missense_Mutation	SNP	ENST00000360358.3	37	c.322G>T	CCDS31099.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.290937	0.40494	.	.	ENSG00000238243	ENST00000537741;ENST00000360358	T;T	0.01369	4.97;4.97	5.28	3.39	0.38822	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000009	T	0.05777	0.0151	M	0.93197	3.39	0.09310	N	1	P	0.51653	0.947	P	0.47786	0.557	T	0.13899	-1.0492	10	0.87932	D	0	.	8.9774	0.35944	0.2619:0.0:0.7381:0.0	.	108	Q7Z3T1	OR2W3_HUMAN	C	108	ENSP00000445853:G108C;ENSP00000353516:G108C	ENSP00000353516:G108C	G	+	1	0	OR2W3	246125833	0.002000	0.14202	0.509000	0.27700	0.686000	0.39977	1.246000	0.32803	1.472000	0.48140	-0.199000	0.12753	GGT		0.567	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		45	73	1	0	1.06522e-23	1	1.30016e-23	45	73				
CCDC33	80125	broad.mit.edu	37	15	74560687	74560687	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:74560687C>T	ENST00000398814.3	+	5	865	c.434C>T	c.(433-435)aCt>aTt	p.T145I	CCDC33_ENST00000321288.5_Missense_Mutation_p.T348I	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	348										breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CTCCAGCCCACTGAGTCTGGG	0.562																																						ENST00000321288.5																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(1042-1044)aCt>aTt		coiled-coil domain containing 33							47.0	51.0	50.0					15																	74560687		1952	4152	6104	SO:0001583	missense	80125						protein binding	g.chr15:74560687C>T	BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"""cancer/testis antigen 61"""					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.434C>T	15.37:g.74560687C>T	ENSP00000381795:p.Thr145Ile					CCDC33_ENST00000398814.3_Missense_Mutation_p.T145I	p.T348I			Q8N5R6	CCD33_HUMAN			7	1043	+			348					A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Missense_Mutation	SNP	ENST00000398814.3	37	c.1043C>T	CCDS42058.1	.	.	.	.	.	.	.	.	.	.	C	10.63	1.404716	0.25378	.	.	ENSG00000140481	ENST00000321288;ENST00000398814	T;T	0.39997	1.05;1.05	4.76	-0.614	0.11590	.	0.680540	0.12760	N	0.441407	T	0.29976	0.0750	L	0.47716	1.5	0.09310	N	1	B	0.20671	0.047	B	0.16289	0.015	T	0.24333	-1.0163	10	0.62326	D	0.03	.	3.5724	0.07922	0.1868:0.434:0.0:0.3793	.	145	Q8N5R6-6	.	I	348;145	ENSP00000325012:T348I;ENSP00000381795:T145I	ENSP00000325012:T348I	T	+	2	0	CCDC33	72347740	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-1.164000	0.03135	-0.475000	0.06852	0.563000	0.77884	ACT		0.562	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2	NM_182791		18	32	0	0	0	1	0	18	32				
ZC3H13	23091	broad.mit.edu	37	13	46541882	46541882	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr13:46541882C>G	ENST00000242848.4	-	15	4426	c.4078G>C	c.(4078-4080)Gag>Cag	p.E1360Q	ZC3H13_ENST00000378921.2_Missense_Mutation_p.E316Q|ZC3H13_ENST00000282007.3_Missense_Mutation_p.E1360Q			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1360							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ATTAGtctctctctttcccta	0.443																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(4078-4080)Gag>Cag		zinc finger CCCH-type containing 13							210.0	165.0	180.0					13																	46541882		2203	4299	6502	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46541882C>G	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.4078G>C	13.37:g.46541882C>G	ENSP00000242848:p.Glu1360Gln					ZC3H13_ENST00000282007.3_Missense_Mutation_p.E1360Q|ZC3H13_ENST00000378921.2_Missense_Mutation_p.E316Q	p.E1360Q			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	15	4426	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	1360					A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.4078G>C		.	.	.	.	.	.	.	.	.	.	C	17.40	3.380941	0.61845	.	.	ENSG00000123200	ENST00000242848;ENST00000378921;ENST00000282007	T;T;T	0.39997	2.07;1.95;1.05	5.28	5.28	0.74379	.	0.129644	0.34223	N	0.004150	T	0.58133	0.2101	L	0.40543	1.245	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	T	0.59857	-0.7375	10	0.62326	D	0.03	.	18.5206	0.90951	0.0:1.0:0.0:0.0	.	1360;1360	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	Q	1360;316;1360	ENSP00000242848:E1360Q;ENSP00000368201:E316Q;ENSP00000282007:E1360Q	ENSP00000242848:E1360Q	E	-	1	0	ZC3H13	45439883	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.696000	0.54757	2.461000	0.83175	0.591000	0.81541	GAG		0.443	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		26	2	0	0	0	1	0	26	2				
CAND1	55832	broad.mit.edu	37	12	67699818	67699818	+	Silent	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:67699818T>C	ENST00000545606.1	+	10	2807	c.2370T>C	c.(2368-2370)ctT>ctC	p.L790L		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	790					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GCACAGCTCTTACTCATAAGC	0.433																																						ENST00000545606.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35						c.(2368-2370)ctT>ctC		cullin-associated and neddylation-dissociated 1							99.0	93.0	95.0					12																	67699818		2203	4300	6503	SO:0001819	synonymous_variant	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67699818T>C		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.2370T>C	12.37:g.67699818T>C							p.L790L	NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	10	2807	+			790					B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Silent	SNP	ENST00000545606.1	37	c.2370T>C	CCDS8977.1																																																																																				0.433	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		44	140	0	0	0	1	0	44	140				
ZCCHC24	219654	broad.mit.edu	37	10	81192499	81192499	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:81192499C>T	ENST00000372336.3	-	2	448	c.262G>A	c.(262-264)Gtg>Atg	p.V88M	ZCCHC24_ENST00000372333.3_Missense_Mutation_p.C28Y	NM_153367.3	NP_699198.2	Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24	88							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						CCCTTGTACACACTGTTGCTC	0.582																																						ENST00000372336.3																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						c.(262-264)Gtg>Atg		zinc finger, CCHC domain containing 24							78.0	55.0	63.0					10																	81192499		2203	4300	6503	SO:0001583	missense	219654						nucleic acid binding|zinc ion binding	g.chr10:81192499C>T	AK075279	CCDS7359.1	10q22.3	2014-02-20	2008-06-23	2008-06-23	ENSG00000165424	ENSG00000165424		"""Zinc fingers, CCHC domain containing"""	26911	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 8"""		"""chromosome 10 open reading frame 56"""	C10orf56		12477932	Standard	NM_153367		Approved	FLJ90798, Z3CXXC8	uc010qlr.2	Q8N2G6	OTTHUMG00000018561	ENST00000372336.3:c.262G>A	10.37:g.81192499C>T	ENSP00000361411:p.Val88Met					ZCCHC24_ENST00000372333.3_Missense_Mutation_p.C28Y	p.V88M	NM_153367.3	NP_699198.2	Q8N2G6	ZCH24_HUMAN			2	448	-			88					Q5U5T9|Q8TAG0	Missense_Mutation	SNP	ENST00000372336.3	37	c.262G>A	CCDS7359.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.40|11.40	1.627367|1.627367	0.28978|0.28978	.|.	.|.	ENSG00000165424|ENSG00000165424	ENST00000372333|ENST00000372336	.|T	.|0.47869	.|0.83	5.96|5.96	4.09|4.09	0.47781|0.47781	.|.	.|0.487111	.|0.21518	.|N	.|0.073278	T|T	0.28466|0.28466	0.0704|0.0704	N|N	0.14661|0.14661	0.345|0.345	0.26314|0.26314	N|N	0.977786|0.977786	B|B	0.31174|0.20550	0.311|0.046	B|B	0.24701|0.18263	0.055|0.021	T|T	0.12993|0.12993	-1.0526|-1.0526	8|10	0.87932|0.34782	D|T	0|0.22	-13.2488|-13.2488	8.8912|8.8912	0.35434|0.35434	0.0:0.5612:0.349:0.0899|0.0:0.5612:0.349:0.0899	.|.	28|88	Q5W133|Q8N2G6	.|ZCH24_HUMAN	Y|M	28|88	.|ENSP00000361411:V88M	ENSP00000361408:C28Y|ENSP00000361411:V88M	C|V	-|-	2|1	0|0	ZCCHC24|ZCCHC24	80862505|80862505	0.964000|0.964000	0.33143|0.33143	0.972000|0.972000	0.41901|0.41901	0.329000|0.329000	0.28539|0.28539	1.838000|1.838000	0.39211|0.39211	1.544000|1.544000	0.49359|0.49359	0.655000|0.655000	0.94253|0.94253	TGT|GTG		0.582	ZCCHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048947.1	NM_153367		19	5	0	0	0	1	0	19	5				
PMM2	5373	broad.mit.edu	37	16	8900255	8900255	+	Missense_Mutation	SNP	C	C	T	rs80338700		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:8900255C>T	ENST00000268261.4	+	4	404	c.338C>T	c.(337-339)cCg>cTg	p.P113L	PMM2_ENST00000537352.1_Intron|PMM2_ENST00000569958.1_Intron|PMM2_ENST00000566983.1_Missense_Mutation_p.P86L|PMM2_ENST00000539622.1_Missense_Mutation_p.P30L	NM_000303.2	NP_000294.1	O15305	PMM2_HUMAN	phosphomannomutase 2	113			P -> L (in CDG1A). {ECO:0000269|PubMed:11058895, ECO:0000269|PubMed:11058896, ECO:0000269|PubMed:15844218}.		cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|mannose biosynthetic process (GO:0019307)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)	phosphomannomutase activity (GO:0004615)			breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1)	9						ATTAAACTCCCGAAGAAGAGG	0.403																																					Esophageal Squamous(154;1308 1842 2827 29799 42829)	ENST00000268261.4																			0				breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1)	9	GRCh37	CM971224	PMM2	M	rs80338700	c.(337-339)cCg>cTg		phosphomannomutase 2		C	LEU/PRO	0,4394		0,0,2197	76.0	73.0	74.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	338	5.3	0.9	16	dbSNP_131	74	3,8597	3.0+/-9.4	0,3,4297	yes	missense	PMM2	NM_000303.2	98	0,3,6494	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	113/247	8900255	3,12991	2197	4300	6497	SO:0001583	missense	5373				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	phosphomannomutase activity	g.chr16:8900255C>T	BC008310	CCDS10536.1	16p13	2012-09-06			ENSG00000140650	ENSG00000140650	5.3.1.8		9115	protein-coding gene	gene with protein product	"""phosphomannose isomerase 1"""	601785		CDG1		9140401	Standard	NM_000303		Approved	CDGS, CDG1a, PMI, PMI1	uc002czf.4	O15305	OTTHUMG00000129697	ENST00000268261.4:c.338C>T	16.37:g.8900255C>T	ENSP00000268261:p.Pro113Leu					PMM2_ENST00000539622.1_Missense_Mutation_p.P30L|PMM2_ENST00000569958.1_Intron|PMM2_ENST00000537352.1_Intron|PMM2_ENST00000566983.1_Missense_Mutation_p.P86L	p.P113L	NM_000303.2	NP_000294.1	O15305	PMM2_HUMAN			4	404	+			113		P -> L (in CDG1A).			A8K672|B7Z6R0|D3DUF3	Missense_Mutation	SNP	ENST00000268261.4	37	c.338C>T	CCDS10536.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.895088	0.91962	0.0	3.49E-4	ENSG00000140650	ENST00000268261;ENST00000539622	D;D	0.99388	-5.81;-5.81	5.29	5.29	0.74685	HAD-like domain (1);	0.049768	0.85682	D	0.000000	D	0.99619	0.9861	H	0.95151	3.63	0.80722	A	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.984;0.996;0.997	D	0.97789	1.0237	9	0.87932	D	0	.	17.9324	0.89002	0.0:1.0:0.0:0.0	.	30;113;113	F5H0W0;B7Z3M6;O15305	.;.;PMM2_HUMAN	L	113;30	ENSP00000268261:P113L;ENSP00000445879:P30L	ENSP00000268261:P113L	P	+	2	0	PMM2	8807756	1.000000	0.71417	0.944000	0.38274	0.875000	0.50365	7.466000	0.80914	2.466000	0.83321	0.591000	0.81541	CCG		0.403	PMM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251904.1	NM_000303		48	65	0	0	0	1	0	48	65				
TINF2	26277	broad.mit.edu	37	14	24709778	24709778	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:24709778G>T	ENST00000267415.7	-	6	1249	c.908C>A	c.(907-909)cCt>cAt	p.P303H	TINF2_ENST00000399423.4_Missense_Mutation_p.P303H|TINF2_ENST00000540705.1_Missense_Mutation_p.P268H|TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000538777.1_Missense_Mutation_p.P89H|TINF2_ENST00000558510.1_5'Flank|TINF2_ENST00000559019.1_3'UTR	NM_001099274.1	NP_001092744.1	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	303					negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of protein ADP-ribosylation (GO:0010836)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of telomere maintenance (GO:0032206)|protein localization to chromosome (GO:0034502)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinucleolar chromocenter (GO:0010370)	telomeric DNA binding (GO:0042162)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		CTTGCTCTCAGGCTTAGATAT	0.557									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome																													ENST00000399423.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7						c.(907-909)cCt>cAt		TERF1 (TRF1)-interacting nuclear factor 2							67.0	66.0	66.0					14																	24709778		2038	4188	6226	SO:0001583	missense	26277	Congenital Dyskeratosis;Ataxia Pancytopenia syndrome	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita;Myelocerebellar disorder	negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding	g.chr14:24709778G>T	AF195512	CCDS41936.1, CCDS41937.1	14q12	2008-07-29				ENSG00000092330			11824	protein-coding gene	gene with protein product		604319				10581025, 18252230	Standard	NM_012461		Approved	TIN2	uc001woa.4	Q9BSI4		ENST00000267415.7:c.908C>A	14.37:g.24709778G>T	ENSP00000267415:p.Pro303His					TINF2_ENST00000538777.1_Missense_Mutation_p.P89H|TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000559019.1_3'UTR|TINF2_ENST00000267415.7_Missense_Mutation_p.P303H|TINF2_ENST00000540705.1_Missense_Mutation_p.P268H	p.P303H	NM_012461.2	NP_036593.2	Q9BSI4	TINF2_HUMAN		GBM - Glioblastoma multiforme(265;0.0185)	6	1238	-			303					B3W5Q7|Q9H904|Q9UHC2	Missense_Mutation	SNP	ENST00000267415.7	37	c.908C>A	CCDS41936.1	.	.	.	.	.	.	.	.	.	.	G	6.585	0.476232	0.12521	.	.	ENSG00000092330	ENST00000267415;ENST00000540705;ENST00000399423;ENST00000538777	D;D;D;D	0.89050	-1.95;-1.96;-2.03;-2.46	4.89	2.83	0.33086	.	0.430418	0.21331	N	0.076282	D	0.85309	0.5667	L	0.52364	1.645	0.09310	N	1	P;P	0.50272	0.844;0.933	B;P	0.45406	0.383;0.479	T	0.78170	-0.2308	10	0.87932	D	0	-4.3078	6.7197	0.23323	0.1031:0.0:0.7085:0.1884	.	268;303	B4DFJ1;Q9BSI4	.;TINF2_HUMAN	H	303;268;303;89	ENSP00000267415:P303H;ENSP00000442154:P268H;ENSP00000382350:P303H;ENSP00000437495:P89H	ENSP00000267415:P303H	P	-	2	0	TINF2	23779618	0.473000	0.25878	0.370000	0.25965	0.068000	0.16541	1.342000	0.33919	1.061000	0.40601	0.462000	0.41574	CCT		0.557	TINF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415406.2			8	94	1	0	0.000157383	1	0.000166744	8	94				
MAEL	84944	broad.mit.edu	37	1	166990329	166990329	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:166990329G>T	ENST00000367872.4	+	11	1293	c.1049G>T	c.(1048-1050)aGg>aTg	p.R350M	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.R319M	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	350					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						CAGAAGCTAAGGGTTGGGAGT	0.338																																						ENST00000367872.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						c.(1048-1050)aGg>aTg		maelstrom spermatogenic transposon silencer							83.0	87.0	86.0					1																	166990329		2203	4300	6503	SO:0001583	missense	84944				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding	g.chr1:166990329G>T	AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"""cancer/testis antigen 128"", ""spermatogenesis associated 35"""	611368	"""maelstrom homolog (Drosophila)"""			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.1049G>T	1.37:g.166990329G>T	ENSP00000356846:p.Arg350Met					MAEL_ENST00000367870.2_Missense_Mutation_p.R319M|MAEL_ENST00000491055.1_3'UTR	p.R350M	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN			11	1293	+			350					B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	ENST00000367872.4	37	c.1049G>T	CCDS1257.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626249	0.46840	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000537744	T;T	0.52295	0.67;0.69	5.43	4.52	0.55395	.	0.087653	0.49916	D	0.000137	T	0.35828	0.0945	N	0.24115	0.695	0.37786	D	0.927174	D;D	0.67145	0.996;0.996	P;P	0.58820	0.846;0.846	T	0.43245	-0.9403	10	0.72032	D	0.01	.	10.1407	0.42734	0.0899:0.0:0.9101:0.0	.	319;350	E9JVC3;Q96JY0	.;MAEL_HUMAN	M	350;319;72	ENSP00000356846:R350M;ENSP00000356844:R319M	ENSP00000356844:R319M	R	+	2	0	MAEL	165256953	1.000000	0.71417	0.994000	0.49952	0.228000	0.25075	4.230000	0.58632	1.515000	0.48885	-0.157000	0.13467	AGG		0.338	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	NM_032858		21	75	1	0	2.98393e-07	1	3.25832e-07	21	75				
GPBAR1	151306	broad.mit.edu	37	2	219128050	219128050	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:219128050G>A	ENST00000522678.1	+	2	1471	c.603G>A	c.(601-603)cgG>cgA	p.R201R	GPBAR1_ENST00000479077.1_Silent_p.R201R|GPBAR1_ENST00000519574.1_Silent_p.R201R|GPBAR1_ENST00000521462.1_Silent_p.R201R	NM_001077191.1	NP_001070659.1	Q8TDU6	GPBAR_HUMAN	G protein-coupled bile acid receptor 1	201					cell surface bile acid receptor signaling pathway (GO:0038184)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid receptor activity (GO:0038181)|G-protein coupled bile acid receptor activity (GO:0038182)			cervix(1)|kidney(1)|large_intestine(1)|ovary(1)	4		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACATCTGCCGGCTGGAGCGGG	0.701																																						ENST00000522678.1																			0				cervix(1)|kidney(1)|large_intestine(1)|ovary(1)	4						c.(601-603)cgG>cgA		G protein-coupled bile acid receptor 1							16.0	16.0	16.0					2																	219128050		1967	4148	6115	SO:0001819	synonymous_variant	151306					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:219128050G>A	AB086170	CCDS46515.1	2q35	2012-08-08			ENSG00000179921	ENSG00000179921			19680	protein-coding gene	gene with protein product		610147				12419312	Standard	NM_170699		Approved	BG37, GPCR, TGR5, M-BAR, GPCR19, GPR131, MGC40597	uc010zjw.1	Q8TDU6	OTTHUMG00000155203	ENST00000522678.1:c.603G>A	2.37:g.219128050G>A						GPBAR1_ENST00000479077.1_Silent_p.R201R|GPBAR1_ENST00000521462.1_Silent_p.R201R|GPBAR1_ENST00000519574.1_Silent_p.R201R	p.R201R	NM_001077191.1	NP_001070659.1	Q8TDU6	GPBAR_HUMAN		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	1471	+		Renal(207;0.0474)	201					B3KV35	Silent	SNP	ENST00000522678.1	37	c.603G>A	CCDS46515.1																																																																																				0.701	GPBAR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338767.3	NM_001077191		14	27	0	0	0	1	0	14	27				
MRGPRX1	259249	broad.mit.edu	37	11	18955793	18955793	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:18955793G>A	ENST00000302797.3	-	1	763	c.539C>T	c.(538-540)aCa>aTa	p.T180I	RP11-583F24.8_ENST00000528646.1_RNA|MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	180					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCACGCGACTGTGATGAAATC	0.532																																						ENST00000302797.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(538-540)aCa>aTa		MAS-related GPR, member X1							133.0	111.0	118.0					11																	18955793		2194	4286	6480	SO:0001583	missense	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18955793G>A		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.539C>T	11.37:g.18955793G>A	ENSP00000305766:p.Thr180Ile					MRGPRX1_ENST00000526914.1_5'UTR	p.T180I	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN			1	763	-			180					Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	ENST00000302797.3	37	c.539C>T	CCDS7846.1	.	.	.	.	.	.	.	.	.	.	.	1.071	-0.670013	0.03403	.	.	ENSG00000170255	ENST00000302797	T	0.36340	1.26	2.16	-4.33	0.03677	GPCR, rhodopsin-like superfamily (1);	1.605750	0.03290	N	0.187505	T	0.19046	0.0457	N	0.16833	0.445	0.09310	N	1	B	0.14805	0.011	B	0.20577	0.03	T	0.14364	-1.0475	10	0.14252	T	0.57	.	3.571	0.07917	0.3978:0.0:0.335:0.2672	.	180	Q96LB2	MRGX1_HUMAN	I	180	ENSP00000305766:T180I	ENSP00000305766:T180I	T	-	2	0	MRGPRX1	18912369	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-2.070000	0.01380	-2.295000	0.00662	-0.658000	0.03865	ACA		0.532	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		4	123	0	0	0	1	0	4	123				
ARHGEF10L	55160	broad.mit.edu	37	1	17990994	17990994	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:17990994C>T	ENST00000361221.3	+	26	3072	c.2913C>T	c.(2911-2913)ccC>ccT	p.P971P	ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000167825.4_Silent_p.P674P|ARHGEF10L_ENST00000434513.1_Silent_p.P966P|ARHGEF10L_ENST00000375415.1_Silent_p.P932P|ARHGEF10L_ENST00000452522.1_Silent_p.P932P|ARHGEF10L_ENST00000375408.3_Silent_p.P744P	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	971						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P971P(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CTGTGGGGCCCGGGCCTGTCC	0.692																																						ENST00000361221.3																			2	Substitution - coding silent(2)	p.P971P(2)	kidney(2)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(2911-2913)ccC>ccT		Rho guanine nucleotide exchange factor (GEF) 10-like							40.0	42.0	41.0					1																	17990994		2202	4299	6501	SO:0001819	synonymous_variant	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17990994C>T	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.2913C>T	1.37:g.17990994C>T						ARHGEF10L_ENST00000452522.1_Silent_p.P932P|ARHGEF10L_ENST00000375415.1_Silent_p.P932P|ARHGEF10L_ENST00000434513.1_Silent_p.P966P|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375408.3_Silent_p.P744P|ARHGEF10L_ENST00000167825.4_Silent_p.P674P	p.P971P	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	26	3072	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	971					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Silent	SNP	ENST00000361221.3	37	c.2913C>T	CCDS182.1																																																																																				0.692	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		7	20	0	0	0	1	0	7	20				
FMN2	56776	broad.mit.edu	37	1	240370926	240370926	+	Silent	SNP	C	C	A	rs71170718|rs562038978		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:240370926C>A	ENST00000319653.9	+	5	3044	c.2814C>A	c.(2812-2814)ccC>ccA	p.P938P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	938	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.P1081P(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCTCTACCCGGAGCGGGAA	0.697																																						ENST00000319653.9																			1	Substitution - coding silent(1)	p.P1081P(1)	large_intestine(1)	NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(2812-2814)ccC>ccA		formin 2							27.0	34.0	31.0					1																	240370926		2203	4299	6502	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240370926C>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2814C>A	1.37:g.240370926C>A							p.P938P	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3044	+	Ovarian(103;0.127)	all_cancers(173;0.013)	938			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.2814C>A	CCDS31069.2																																																																																				0.697	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		50	51	1	0	4.17463e-26	1	5.13939e-26	50	51				
ALG10	84920	broad.mit.edu	37	12	34179015	34179015	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:34179015G>A	ENST00000266483.2	+	3	906	c.587G>A	c.(586-588)tGt>tAt	p.C196Y	ALG10_ENST00000538927.1_Intron|RP11-847H18.2_ENST00000501954.2_RNA|AC046130.1_ENST00000401300.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	196					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				GCTGTCTTCTGTGCAGGAAAT	0.403																																						ENST00000266483.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(586-588)tGt>tAt		ALG10, alpha-1,2-glucosyltransferase							165.0	168.0	167.0					12																	34179015		2203	4299	6502	SO:0001583	missense	84920				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:34179015G>A	AJ312278	CCDS41769.1	12p11.21	2013-03-04	2013-03-04		ENSG00000139133	ENSG00000139133	2.4.1.256		23162	protein-coding gene	gene with protein product	"""derepression of ITR1 expression 2 homolog (S. cerevisiae)"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""	603313	"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (yeast)"", ""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe)"""				Standard	NM_032834		Approved	FLJ14751, DIE2, ALG10A	uc001rlm.3	Q5BKT4	OTTHUMG00000169285	ENST00000266483.2:c.587G>A	12.37:g.34179015G>A	ENSP00000266483:p.Cys196Tyr					ALG10_ENST00000538927.1_Intron|RP11-847H18.2_ENST00000501954.2_RNA	p.C196Y	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN			3	906	+	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)	196					Q6NS98|Q96DU0|Q96SM6	Missense_Mutation	SNP	ENST00000266483.2	37	c.587G>A	CCDS41769.1	.	.	.	.	.	.	.	.	.	.	G	7.289	0.610723	0.14066	.	.	ENSG00000139133	ENST00000266483	T	0.53857	0.6	3.13	3.13	0.36017	.	0.000000	0.85682	D	0.000000	T	0.52933	0.1765	L	0.44542	1.39	0.80722	D	1	D	0.69078	0.997	P	0.60173	0.87	T	0.53606	-0.8415	10	0.02654	T	1	.	12.1223	0.53897	0.0:0.0:1.0:0.0	.	196	Q5BKT4	AG10A_HUMAN	Y	196	ENSP00000266483:C196Y	ENSP00000266483:C196Y	C	+	2	0	ALG10	34070282	1.000000	0.71417	0.839000	0.33178	0.080000	0.17528	7.643000	0.83403	1.492000	0.48499	0.184000	0.17185	TGT		0.403	ALG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403309.1	NM_032834		136	173	0	0	0	1	0	136	173				
SLC13A5	284111	broad.mit.edu	37	17	6609969	6609969	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:6609969C>A	ENST00000433363.2	-	3	593	c.360G>T	c.(358-360)aaG>aaT	p.K120N	SLC13A5_ENST00000293800.6_Missense_Mutation_p.K120N|SLC13A5_ENST00000573648.1_Missense_Mutation_p.K120N|SLC13A5_ENST00000381074.4_Missense_Mutation_p.K77N	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	120					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						ACCGTGCAGGCTTGGCCCCCA	0.647																																						ENST00000433363.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						c.(358-360)aaG>aaT		solute carrier family 13 (sodium-dependent citrate transporter), member 5							57.0	48.0	51.0					17																	6609969		2203	4300	6503	SO:0001583	missense	284111					integral to membrane	citrate transmembrane transporter activity	g.chr17:6609969C>A	AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"""Solute carriers"""	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.360G>T	17.37:g.6609969C>A	ENSP00000406220:p.Lys120Asn					SLC13A5_ENST00000381074.4_Missense_Mutation_p.K77N|SLC13A5_ENST00000573648.1_Missense_Mutation_p.K120N|SLC13A5_ENST00000293800.6_Missense_Mutation_p.K120N	p.K120N	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN			3	593	-			120					B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Missense_Mutation	SNP	ENST00000433363.2	37	c.360G>T	CCDS11079.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127598	0.77549	.	.	ENSG00000141485	ENST00000293800;ENST00000433363;ENST00000381074	T;T;T	0.03035	4.07;4.07;4.07	5.27	4.08	0.47627	.	0.209202	0.48767	D	0.000171	T	0.07999	0.0200	L	0.43923	1.385	0.47308	D	0.999381	D;P;D;D	0.54964	0.969;0.868;0.969;0.969	P;P;P;P	0.62298	0.855;0.674;0.9;0.9	T	0.09796	-1.0658	10	0.37606	T	0.19	.	5.5099	0.16874	0.0:0.7652:0.0:0.2348	.	120;77;120;120	B7ZLB4;F8W7N2;B3KXR0;Q86YT5	.;.;.;S13A5_HUMAN	N	120;120;77	ENSP00000293800:K120N;ENSP00000406220:K120N;ENSP00000370464:K77N	ENSP00000293800:K120N	K	-	3	2	SLC13A5	6550693	0.238000	0.23825	1.000000	0.80357	0.988000	0.76386	-0.303000	0.08210	2.653000	0.90120	0.561000	0.74099	AAG		0.647	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2	NM_177550		3	21	1	0	0.004672	1	0.00481562	3	21				
BMP2K	55589	broad.mit.edu	37	4	79792103	79792103	+	Silent	SNP	G	G	A	rs534035187	byFrequency	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:79792103G>A	ENST00000335016.5	+	11	1564	c.1398G>A	c.(1396-1398)caG>caA	p.Q466Q	BMP2K_ENST00000502871.1_Silent_p.Q466Q	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	466	Gln/His-rich.				regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						agcagcagcagcagcaacagc	0.547													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		11572	0.0		0.0	False		,,,				2504	0.0					ENST00000335016.5																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1396-1398)caG>caA		BMP2 inducible kinase							27.0	31.0	30.0					4																	79792103		2186	4237	6423	SO:0001819	synonymous_variant	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79792103G>A	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1398G>A	4.37:g.79792103G>A						BMP2K_ENST00000502871.1_Silent_p.Q466Q	p.Q466Q	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			11	1564	+			466			Gln/His-rich.		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Silent	SNP	ENST00000335016.5	37	c.1398G>A	CCDS47083.1	.	.	.	.	.	.	.	.	.	.	G	1.548	-0.540072	0.04053	.	.	ENSG00000138756	ENST00000502613	.	.	.	3.26	0.0695	0.14374	.	.	.	.	.	T	0.52533	0.1740	.	.	.	0.45272	D	0.998274	.	.	.	.	.	.	T	0.34900	-0.9810	4	.	.	.	-8.7742	6.241	0.20791	0.3659:0.1256:0.5085:0.0	.	.	.	.	T	159	.	.	A	+	1	0	BMP2K	80011127	1.000000	0.71417	0.031000	0.17742	0.025000	0.11179	0.486000	0.22340	-0.813000	0.04357	-1.509000	0.00949	GCA		0.547	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		11	14	0	0	0	1	0	11	14				
ARID3C	138715	broad.mit.edu	37	9	34618739	34618739	+	IGR	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:34618739T>C	ENST00000378909.2	-	0	1411				DCTN3_ENST00000477738.2_Missense_Mutation_p.K39E|DCTN3_ENST00000447983.2_Missense_Mutation_p.K39E|DCTN3_ENST00000378916.4_Missense_Mutation_p.K39E|DCTN3_ENST00000341694.2_Missense_Mutation_p.K39E|DCTN3_ENST00000259632.7_Missense_Mutation_p.K39E|DCTN3_ENST00000378913.2_Missense_Mutation_p.K39E|DCTN3_ENST00000479399.1_5'Flank	NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane raft (GO:0045121)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		ACCTGCACCTTGACCAGGCCG	0.502																																						ENST00000447983.2																			0				large_intestine(1)|skin(1)	2						c.(115-117)Aag>Gag		dynactin 3 (p22)							141.0	116.0	124.0					9																	34618739		2203	4300	6503	SO:0001628	intergenic_variant	11258				cytokinesis|G2/M transition of mitotic cell cycle|mitosis	centrosome|cleavage furrow|condensed chromosome kinetochore|cytosol|dynactin complex|midbody|perinuclear region of cytoplasm|spindle	protein binding|structural molecule activity	g.chr9:34618739T>C		CCDS35006.1	9p13.2	2013-02-07	2006-11-08		ENSG00000205143	ENSG00000205143		"""-"""	21209	protein-coding gene	gene with protein product			"""AT rich interactive domain 3C (BRIGHT- like)"""				Standard	NM_001017363		Approved		uc011lon.2	A6NKF2	OTTHUMG00000000445		9.37:g.34618739T>C						DCTN3_ENST00000341694.2_Missense_Mutation_p.K39E|DCTN3_ENST00000477738.2_Missense_Mutation_p.K39E|DCTN3_ENST00000259632.7_Missense_Mutation_p.K39E|DCTN3_ENST00000378913.2_Missense_Mutation_p.K39E|DCTN3_ENST00000378916.4_Missense_Mutation_p.K39E	p.K39E			O75935	DCTN3_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.0388)	2	168	-	all_epithelial(49;0.0863)		39						Missense_Mutation	SNP	ENST00000378909.2	37	c.115A>G	CCDS35006.1	.	.	.	.	.	.	.	.	.	.	T	18.04	3.535256	0.64972	.	.	ENSG00000137100	ENST00000421919;ENST00000259632;ENST00000341694;ENST00000378916;ENST00000447983;ENST00000378913;ENST00000378911	.	.	.	4.98	4.98	0.66077	.	0.108809	0.64402	D	0.000010	T	0.67429	0.2892	L	0.55103	1.725	0.36543	D	0.871396	D;D	0.67145	0.969;0.996	P;D	0.64144	0.725;0.922	T	0.72453	-0.4289	9	0.39692	T	0.17	-5.1121	12.1911	0.54273	0.0:0.0:0.0:1.0	.	39;39	O75935;O75935-2	DCTN3_HUMAN;.	E	32;39;39;39;39;39;39	.	ENSP00000259632:K39E	K	-	1	0	DCTN3	34608739	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	5.481000	0.66826	2.092000	0.63282	0.523000	0.50628	AAG		0.502	ARID3C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348265.1	XM_071061		16	37	0	0	0	1	0	16	37				
OR51F2	119694	broad.mit.edu	37	11	4843542	4843542	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:4843542G>A	ENST00000322110.5	+	1	992	c.927G>A	c.(925-927)aaG>aaA	p.K309K	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAGTGTAAAGATTAAGCAGA	0.383																																						ENST00000322110.5																			0				breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33						c.(925-927)aaG>aaA		olfactory receptor, family 51, subfamily F, member 2							138.0	134.0	135.0					11																	4843542		2201	4298	6499	SO:0001819	synonymous_variant	119694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4843542G>A	BK004281	CCDS31361.1	11p15.4	2012-08-09			ENSG00000176925	ENSG00000176925		"""GPCR / Class A : Olfactory receptors"""	15197	protein-coding gene	gene with protein product							Standard	NM_001004753		Approved		uc010qyn.2	Q8NH61	OTTHUMG00000066508	ENST00000322110.5:c.927G>A	11.37:g.4843542G>A						MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.K309K	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	992	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	309					Q6IFI1	Silent	SNP	ENST00000322110.5	37	c.927G>A	CCDS31361.1																																																																																				0.383	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142181.1	NM_001004753		126	100	0	0	0	1	0	126	100				
SUN3	256979	broad.mit.edu	37	7	48068414	48068414	+	Splice_Site	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:48068414C>A	ENST00000297325.4	-	1	281	c.122G>T	c.(121-123)gGg>gTg	p.G41V	SUN3_ENST00000412142.1_5'UTR|SUN3_ENST00000395572.2_Splice_Site_p.G41V|SUN3_ENST00000453192.2_5'UTR	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	41						integral component of membrane (GO:0016021)|SUN-KASH complex (GO:0034993)				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTTTACCTACCCATTCGCATC	0.463																																						ENST00000297325.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.e1+1		Sad1 and UNC84 domain containing 3							200.0	177.0	185.0					7																	48068414		2203	4300	6503	SO:0001630	splice_region_variant	256979					integral to membrane		g.chr7:48068414C>A	AF429967	CCDS34636.1, CCDS64647.1	7p12.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164744	ENSG00000164744			22429	protein-coding gene	gene with protein product			"""Sad1 and UNC84 domain containing 1"""	SUNC1			Standard	NM_001284350		Approved	MGC33329	uc003tof.3	Q8TAQ9	OTTHUMG00000155646	ENST00000297325.4:c.122+1G>T	7.37:g.48068414C>A						SUN3_ENST00000453192.2_5'UTR|SUN3_ENST00000412142.1_5'UTR|SUN3_ENST00000395572.2_Splice_Site_p.G41_splice	p.G41_splice	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN			1	281	-			41					A4D2F3|B4DXK1|D3DVM3|E7EWC8|Q4F965|Q7Z4U8	Splice_Site	SNP	ENST00000297325.4	37	c.122_splice	CCDS34636.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.050063	0.36181	.	.	ENSG00000164744	ENST00000297325;ENST00000395572	T;T	0.23348	1.91;1.91	3.63	3.63	0.41609	.	4.607490	0.00357	N	0.000029	T	0.20577	0.0495	N	0.24115	0.695	0.80722	D	1	P	0.48911	0.917	B	0.38655	0.278	T	0.37663	-0.9696	9	.	.	.	-9.9929	11.161	0.48516	0.0:1.0:0.0:0.0	.	41	Q8TAQ9	SUN3_HUMAN	V	41	ENSP00000297325:G41V;ENSP00000378939:G41V	.	G	-	2	0	SUN3	48034939	0.402000	0.25311	0.455000	0.27031	0.033000	0.12548	1.200000	0.32247	2.322000	0.78497	0.650000	0.86243	GGG		0.463	SUN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340962.1	NM_152782	Missense_Mutation	23	100	1	0	7.41877e-09	1	8.27534e-09	23	100				
CASP8	841	broad.mit.edu	37	2	202141691	202141691	+	Splice_Site	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:202141691G>A	ENST00000432109.2	+	8	991	c.802G>A	c.(802-804)Ggg>Agg	p.G268R	CASP8_ENST00000323492.7_Splice_Site_p.G253R|CASP8_ENST00000358485.4_Splice_Site_p.G327R|CASP8_ENST00000264275.5_Splice_Site_p.G285R|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000392258.3_3'UTR|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000264274.9_Intron	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	268					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CTTGGATGCAGGTACAGTAGA	0.373										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			0				breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.e7+1		caspase 8, apoptosis-related cysteine peptidase							69.0	62.0	65.0					2																	202141691		2203	4300	6503	SO:0001630	splice_region_variant	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202141691G>A	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.802+1G>A	2.37:g.202141691G>A		HNSCC(4;0.00038)				CASP8_ENST00000432109.2_Splice_Site_p.G268_splice|CASP8_ENST00000392258.3_3'UTR|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Intron|CASP8_ENST00000264275.5_Splice_Site_p.G285_splice|CASP8_ENST00000323492.7_Splice_Site_p.G253_splice	p.G327_splice	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			7	1175	+			268					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Splice_Site	SNP	ENST00000432109.2	37	c.979_splice	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.619005	0.46736	.	.	ENSG00000064012	ENST00000392263;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000392261;ENST00000323492	T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17	5.49	5.49	0.81192	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.543255	0.21554	N	0.072683	T	0.15696	0.0378	N	0.16708	0.43	0.80722	D	1	B;B;B;B	0.20368	0.012;0.0;0.011;0.044	B;B;B;B	0.20767	0.019;0.001;0.017;0.031	T	0.06807	-1.0806	10	0.32370	T	0.25	.	16.5267	0.84333	0.0:0.0:1.0:0.0	.	327;268;253;285	Q14790-9;Q14790;Q14790-2;Q14790-4	.;CASP8_HUMAN;.;.	R	253;268;285;327;253;253	ENSP00000376091:G253R;ENSP00000412523:G268R;ENSP00000264275:G285R;ENSP00000351273:G327R;ENSP00000325722:G253R	ENSP00000264275:G285R	G	+	1	0	CASP8	201849936	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	5.046000	0.64226	2.567000	0.86603	0.561000	0.74099	GGG		0.373	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228	Missense_Mutation	8	68	0	0	0	1	0	8	68				
B3GALT6	126792	broad.mit.edu	37	1	1168240	1168240	+	Frame_Shift_Del	DEL	G	G	-	rs532162467		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:1168240delG	ENST00000379198.2	+	1	612	c.582delG	c.(580-582)ccgfs	p.P194fs	SDF4_ENST00000459994.2_5'Flank|SDF4_ENST00000360001.6_5'Flank|SDF4_ENST00000545427.1_5'Flank|SDF4_ENST00000263741.7_5'Flank	NM_080605.3	NP_542172.2	Q96L58	B3GT6_HUMAN	UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6	194					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi medial cisterna (GO:0005797)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylxylosylprotein 3-beta-galactosyltransferase activity (GO:0047220)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)|UDP-galactosyltransferase activity (GO:0035250)			lung(3)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCGTCAAGCCGGGGGGGCGCT	0.771																																						ENST00000379198.2																			0				lung(3)	3						c.(580-582)ccfs		UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6				13,2533		2,9,1262	3.0	4.0	4.0			3.8	0.8	1		4	40,5520		7,26,2747	no	frameshift	B3GALT6	NM_080605.3		9,35,4009	A1A1,A1R,RR		0.7194,0.5106,0.6538			1168240	53,8053	1458	3113	4571	SO:0001589	frameshift_variant	126792				glycosaminoglycan biosynthetic process|protein glycosylation	Golgi cisterna membrane|Golgi medial cisterna|integral to membrane	galactosylxylosylprotein 3-beta-galactosyltransferase activity	g.chr1:1168240delG	AY050570	CCDS13.1	1p36.33	2013-02-19	2002-05-23		ENSG00000176022	ENSG00000176022		"""Beta 3-glycosyltransferases"""	17978	protein-coding gene	gene with protein product	"""beta-1,3-galactosyltransferase-6"""	615291	"""UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 6"""			11551958	Standard	NM_080605		Approved	beta3GalT6	uc001adk.3	Q96L58	OTTHUMG00000001813	ENST00000379198.2:c.582delG	1.37:g.1168240delG	ENSP00000368496:p.Pro194fs						p.P194fs	NM_080605.3	NP_542172.2	Q96L58	B3GT6_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	1	612	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	194					Q5T7M5	Frame_Shift_Del	DEL	ENST00000379198.2	37	c.582delG	CCDS13.1																																																																																				0.771	B3GALT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005071.1	NM_080605		4	7						4	7	---	---	---	---
MRPS15	64960	broad.mit.edu	37	1	36921846	36921846	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:36921846delG	ENST00000373116.5	-	7	739	c.578delC	c.(577-579)cctfs	p.P193fs	MRPS15_ENST00000488606.1_5'UTR	NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15	193					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTAATACAGAGGGGGGAAGGT	0.512																																						ENST00000373116.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14						c.(577-579)ctfs		mitochondrial ribosomal protein S15				7,4259		3,1,2129	75.0	72.0	73.0			1.1	0.3	1		72	25,8229		8,9,4110	no	frameshift	MRPS15	NM_031280.3		11,10,6239	A1A1,A1R,RR		0.3029,0.1641,0.2556			36921846	32,12488	2203	4300	6503	SO:0001589	frameshift_variant	64960				translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome	g.chr1:36921846delG	AB049946	CCDS411.1	1p34.3	2012-09-13			ENSG00000116898	ENSG00000116898		"""Mitochondrial ribosomal proteins / small subunits"""	14504	protein-coding gene	gene with protein product		611979					Standard	NM_031280		Approved	FLJ11564	uc001cas.2	P82914	OTTHUMG00000008042	ENST00000373116.5:c.578delC	1.37:g.36921846delG	ENSP00000362208:p.Pro193fs					MRPS15_ENST00000488606.1_5'UTR	p.P193fs	NM_031280.3	NP_112570.2	P82914	RT15_HUMAN			7	739	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	193					B2RD82|Q9H2K1	Frame_Shift_Del	DEL	ENST00000373116.5	37	c.578delC	CCDS411.1																																																																																				0.512	MRPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022052.2	NM_031280		10	83						10	83	---	---	---	---
SZT2	23334	broad.mit.edu	37	1	43888902	43888902	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:43888902delC	ENST00000562955.1	+	15	2170	c.2170delC	c.(2170-2172)cccfs	p.P725fs	SZT2_ENST00000372442.1_5'UTR	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	725					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTCCAAGTCACCCCCCGTGCT	0.627																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(2170-2172)ccfs		seizure threshold 2 homolog (mouse)							33.0	32.0	32.0					1																	43888902		876	1991	2867	SO:0001589	frameshift_variant	23334					peroxisome		g.chr1:43888902delC	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.2170delC	1.37:g.43888902delC	ENSP00000457168:p.Pro725fs					SZT2_ENST00000372442.1_5'UTR	p.P725fs	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			15	2170	+			725					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Frame_Shift_Del	DEL	ENST00000562955.1	37	c.2170delC	CCDS30694.2																																																																																				0.627	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		8	26						8	26	---	---	---	---
CYP4Z2P	163720	broad.mit.edu	37	1	47339125	47339125	+	RNA	DEL	C	C	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:47339125delC	ENST00000505841.1	-	0	775					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										CCCCCTGGCACCCCCCCCATG	0.443																																						ENST00000505841.1																			0																																																			163720							g.chr1:47339125delC	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47339125delC								NR_002788.2						0	775	-								Q66ZJ5	RNA	DEL	ENST00000505841.1	37																																																																																						0.443	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		5	10						5	10	---	---	---	---
GLIS1	148979	broad.mit.edu	37	1	54060231	54060232	+	Frame_Shift_Ins	INS	-	-	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:54060231_54060232insC	ENST00000312233.2	-	3	910_911	c.344_345insG	c.(343-345)ggcfs	p.G115fs		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GCTTGGAAGGGCCCCCCAGATC	0.649																																						ENST00000312233.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						c.(343-345)gccfs		GLIS family zinc finger 1																																				SO:0001589	frameshift_variant	148979				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:54060231_54060232insC	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"""Zinc fingers, C2H2-type"""	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.345dupG	1.37:g.54060237_54060237dupC	ENSP00000309653:p.Gly115fs						p.A115fs	NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN			3	910_911	-			115						Frame_Shift_Ins	INS	ENST00000312233.2	37	c.344_345insG	CCDS582.1																																																																																				0.649	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1	NM_147193		17	62						17	62	---	---	---	---
TGFBR3	7049	broad.mit.edu	37	1	92200471	92200473	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:92200471_92200473delAGG	ENST00000525962.1	-	4	489_491	c.428_430delCCT	c.(427-432)tccttg>ttg	p.S143del	TGFBR3_ENST00000370399.2_In_Frame_Del_p.S143del|TGFBR3_ENST00000212355.4_In_Frame_Del_p.S143del|TGFBR3_ENST00000468996.2_5'UTR			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	143					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TCTGCTGTCAAGGAGAAGTTTGC	0.438																																						ENST00000212355.4																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(427-432)ttg>t		transforming growth factor, beta receptor III																																				SO:0001651	inframe_deletion	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92200471_92200473delAGG	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.428_430delCCT	1.37:g.92200471_92200473delAGG	ENSP00000436127:p.Ser143del					TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000370399.2_In_Frame_Del_p.SL143del|TGFBR3_ENST00000525962.1_In_Frame_Del_p.SL143del	p.SL143del	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	5	893_895	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	143					A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	In_Frame_Del	DEL	ENST00000525962.1	37	c.428_430delCCT	CCDS30770.1																																																																																				0.438	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		88	90						88	90	---	---	---	---
PHTF1	10745	broad.mit.edu	37	1	114242392	114242393	+	Frame_Shift_Ins	INS	-	-	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:114242392_114242393insT	ENST00000369604.1	-	17	2558_2559	c.2075_2076insA	c.(2074-2076)aagfs	p.K692fs	PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000393357.2_Frame_Shift_Ins_p.K692fs|PHTF1_ENST00000369600.1_Frame_Shift_Ins_p.K639fs|PHTF1_ENST00000369598.1_Frame_Shift_Ins_p.K647fs|PHTF1_ENST00000369596.2_Frame_Shift_Ins_p.K639fs			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	692					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTTATTTGGCTTTTTTTCCAT	0.282																																						ENST00000369604.1																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(2074-2076)accfs		putative homeodomain transcription factor 1																																				SO:0001589	frameshift_variant	10745					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:114242392_114242393insT	AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.2076dupA	1.37:g.114242399_114242399dupT	ENSP00000358617:p.Lys692fs					PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000369598.1_Frame_Shift_Ins_p.T647fs|PHTF1_ENST00000393357.2_Frame_Shift_Ins_p.T692fs|PHTF1_ENST00000369596.2_Frame_Shift_Ins_p.T639fs|PHTF1_ENST00000369600.1_Frame_Shift_Ins_p.T639fs	p.T692fs			Q9UMS5	PHTF1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	17	2558_2559	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	692					Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Frame_Shift_Ins	INS	ENST00000369604.1	37	c.2075_2076insA	CCDS861.1																																																																																				0.282	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032666.1	NM_006608		10	31						10	31	---	---	---	---
RSBN1	54665	broad.mit.edu	37	1	114310991	114310991	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:114310991delT	ENST00000261441.5	-	5	1742	c.1679delA	c.(1678-1680)aatfs	p.N560fs	RSBN1_ENST00000369581.2_5'Flank	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	560						nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTGGAGATTTTTTATTTC	0.408																																						ENST00000261441.5																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29						c.(1678-1680)atfs		round spermatid basic protein 1							118.0	118.0	118.0					1																	114310991		2203	4300	6503	SO:0001589	frameshift_variant	54665					nucleus		g.chr1:114310991delT	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.1679delA	1.37:g.114310991delT	ENSP00000261441:p.Asn560fs						p.N560fs	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	1742	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	560					A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Frame_Shift_Del	DEL	ENST00000261441.5	37	c.1679delA	CCDS862.1																																																																																				0.408	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		58	48						58	48	---	---	---	---
RP11-435B5.5	0	broad.mit.edu	37	1	143391923	143391924	+	lincRNA	DEL	AT	AT	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:143391923_143391924delAT	ENST00000428624.1	+	0	2065				RP11-435B5.4_ENST00000423249.1_lincRNA																							TATTTTGGAGATATATATATAT	0.262																																						ENST00000428624.1																			0																																																			0							g.chr1:143391923_143391924delAT																													1.37:g.143391933_143391934delAT						RP11-435B5.4_ENST00000423249.1_lincRNA								0	2065	+									RNA	DEL	ENST00000428624.1	37																																																																																						0.262	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000037971.1			7	11						7	11	---	---	---	---
BCL9	607	broad.mit.edu	37	1	147092657	147092659	+	In_Frame_Del	DEL	CAG	CAG	-	rs368779400		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:147092657_147092659delCAG	ENST00000234739.3	+	8	3436_3438	c.2696_2698delCAG	c.(2695-2700)ccagct>cct	p.A903del		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	903	Poly-Ala.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CTGGCGGGCCCAGCTGCTGCTGC	0.626			T	"""IGH@, IGL@"""	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"""IGH@, IGL@"""		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(2695-2700)cct>c		B-cell CLL/lymphoma 9																																				SO:0001651	inframe_deletion	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147092657_147092659delCAG	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.2696_2698delCAG	1.37:g.147092657_147092659delCAG	ENSP00000234739:p.Ala903del						p.PA899del	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			8	3436_3438	+	all_hematologic(923;0.115)		899			Pro-rich.		Q5T489	In_Frame_Del	DEL	ENST00000234739.3	37	c.2696_2698delCAG	CCDS30833.1																																																																																				0.626	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		13	88						13	88	---	---	---	---
NES	10763	broad.mit.edu	37	1	156642804	156642804	+	Frame_Shift_Del	DEL	G	G	-	rs372020167		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:156642804delG	ENST00000368223.3	-	4	1308	c.1176delC	c.(1174-1176)cccfs	p.P392fs		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	392	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTGAGGTGTGGGGGGGATGG	0.597																																						ENST00000368223.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64						c.(1174-1176)ccfs		nestin							74.0	93.0	86.0					1																	156642804		2203	4299	6502	SO:0001589	frameshift_variant	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156642804delG	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.1176delC	1.37:g.156642804delG	ENSP00000357206:p.Pro392fs						p.P392fs	NM_006617.1	NP_006608.1	P48681	NEST_HUMAN			4	1308	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		392			Tail.		O00552|Q3LIF5|Q5SYZ6	Frame_Shift_Del	DEL	ENST00000368223.3	37	c.1176delC	CCDS1151.1																																																																																				0.597	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		53	171						53	171	---	---	---	---
F5	2153	broad.mit.edu	37	1	169513569	169513569	+	Missense_Mutation	SNP	C	C	T	rs140530655		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:169513569C>T	ENST00000367797.3	-	12	2141	c.1940G>A	c.(1939-1941)cGt>cAt	p.R647H	F5_ENST00000367796.3_Missense_Mutation_p.R652H	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	647	F5/8 type A 2.|Plastocyanin-like 4.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	AGATTCTCCACGCATGGGGAA	0.473													N|||	1	0.000199681	0.0	0.0	5008	,	,		19860	0.001		0.0	False		,,,				2504	0.0					ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(1954-1956)cGt>cAt		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)	C	HIS/ARG	0,4406		0,0,2203	86.0	77.0	80.0		1940	0.7	0.9	1	dbSNP_134	80	2,8598	2.2+/-6.3	0,2,4298	yes	missense	F5	NM_000130.4	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	647/2225	169513569	2,13004	2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169513569C>T	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.1940G>A	1.37:g.169513569C>T	ENSP00000356771:p.Arg647His					F5_ENST00000367797.3_Missense_Mutation_p.R647H	p.R652H			P12259	FA5_HUMAN			12	2156	-	all_hematologic(923;0.208)		647			F5/8 type A 2.|Plastocyanin-like 4.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.1955G>A	CCDS1281.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.68	2.903737	0.52333	0.0	2.33E-4	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.99760	-6.66;-6.66	5.72	0.711	0.18162	Cupredoxin (2);	0.471757	0.24065	N	0.041875	D	0.97232	0.9095	N	0.22421	0.69	0.23095	N	0.998307	B	0.15719	0.014	B	0.06405	0.002	D	0.93341	0.6710	9	0.59425	D	0.04	-0.2715	10.3752	0.44077	0.0:0.6921:0.0:0.3079	.	647	P12259	FA5_HUMAN	H	647;652	ENSP00000356771:R647H;ENSP00000356770:R652H	ENSP00000356770:R652H	R	-	2	0	F5	167780193	0.418000	0.25440	0.875000	0.34327	0.997000	0.91878	0.248000	0.18198	-0.109000	0.12044	0.655000	0.94253	CGT		0.473	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		27	49	0	0	0	1	0	27	49				
AVPR1B	553	broad.mit.edu	37	1	206224854	206224854	+	Frame_Shift_Del	DEL	C	C	-	rs146412534		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:206224854delC	ENST00000367126.4	+	1	879	c.414delC	c.(412-414)cacfs	p.H138fs	RP11-38J22.3_ENST00000425896.1_RNA	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	138					activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CTGTCTGTCACCCCCTGCGCA	0.622																																						ENST00000367126.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20						c.(412-414)cafs		arginine vasopressin receptor 1B	Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)						45.0	45.0	45.0					1																	206224854		2203	4300	6503	SO:0001589	frameshift_variant	553				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr1:206224854delC	D31833	CCDS73015.1	1q32	2014-05-06			ENSG00000198049	ENSG00000198049		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	896	protein-coding gene	gene with protein product		600264		AVPR3		7929452, 8586456	Standard	NM_000707		Approved		uc001hds.2	P47901	OTTHUMG00000184377	ENST00000367126.4:c.414delC	1.37:g.206224854delC	ENSP00000356094:p.His138fs						p.H138fs	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0312)		1	879	+			138					B0M0J6|Q5TZ00	Frame_Shift_Del	DEL	ENST00000367126.4	37	c.414delC	CCDS30994.1																																																																																				0.622	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087996.1	NM_000707		13	89						13	89	---	---	---	---
GRHL1	29841	broad.mit.edu	37	2	10102641	10102642	+	Frame_Shift_Ins	INS	-	-	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:10102641_10102642insT	ENST00000324907.9	+	5	863_864	c.727_728insT	c.(727-729)gttfs	p.V243fs	GRHL1_ENST00000324883.5_Intron|GRHL1_ENST00000405379.2_Frame_Shift_Ins_p.V243fs	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	243					cellular lipid metabolic process (GO:0044255)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		AGAGGACTATGTTTTTGACAGT	0.342																																						ENST00000324907.9																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(727-729)tttfs		grainyhead-like 1 (Drosophila)																																				SO:0001589	frameshift_variant	29841				cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding	g.chr2:10102641_10102642insT	AF198489	CCDS33144.1, CCDS33144.2	2p25.2	2008-02-05	2005-07-11	2005-07-11	ENSG00000134317	ENSG00000134317			17923	protein-coding gene	gene with protein product		609786	"""transcription factor CP2-like 2"""	TFCP2L2		10644752, 12393799	Standard	NM_198182		Approved	LBP-32, MGR	uc002raa.3	Q9NZI5	OTTHUMG00000151704	ENST00000324907.9:c.732dupT	2.37:g.10102646_10102646dupT	ENSP00000324693:p.Val243fs					GRHL1_ENST00000405379.2_Frame_Shift_Ins_p.F243fs|GRHL1_ENST00000324883.5_Intron	p.F243fs	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN		Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)	5	863_864	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		243					A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33	Frame_Shift_Ins	INS	ENST00000324907.9	37	c.727_728insT	CCDS33144.2																																																																																				0.342	GRHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323543.2	NM_014552		11	33						11	33	---	---	---	---
SNRNP27	11017	broad.mit.edu	37	2	70131463	70131463	+	3'UTR	DEL	T	T	-	rs79372020		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:70131463delT	ENST00000244227.3	+	0	916				AC019206.1_ENST00000599032.1_5'Flank|SNRNP27_ENST00000409116.1_Frame_Shift_Del_p.D142fs	NM_006857.2	NP_006848.1	Q8WVK2	SNR27_HUMAN	small nuclear ribonucleoprotein 27kDa (U4/U6.U5)						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						TGAAGGATGATTTTTTTTCCC	0.348																																						ENST00000409116.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(424-426)gafs		small nuclear ribonucleoprotein 27kDa (U4/U6.U5)				3,4263		0,3,2130	110.0	100.0	103.0			-0.7	0.0	2		104	2,8250		0,2,4124	no	utr-3	SNRNP27	NM_006857.2		0,5,6254	A1A1,A1R,RR		0.0242,0.0703,0.0399			70131463	5,12513	2203	4299	6502	SO:0001624	3_prime_UTR_variant	11017				mRNA processing|RNA splicing	nucleus	nucleic acid binding	g.chr2:70131463delT	X76302	CCDS33219.1	2p14	2011-10-11			ENSG00000124380	ENSG00000124380			30240	protein-coding gene	gene with protein product	"""nucleic acid binding protein RY 1"""					7931148	Standard	NM_006857		Approved	RY1	uc002sfw.3	Q8WVK2	OTTHUMG00000152689	ENST00000244227.3:c.*23T>-	2.37:g.70131463delT						SNRNP27_ENST00000244227.3_3'UTR	p.D142fs			Q8WVK2	SNR27_HUMAN			5	452	+			0					Q15410	Frame_Shift_Del	DEL	ENST00000244227.3	37	c.426delT	CCDS33219.1																																																																																				0.348	SNRNP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327369.1	NM_006857		14	81						14	81	---	---	---	---
EXOC6B	23233	broad.mit.edu	37	2	72740374	72740375	+	Frame_Shift_Ins	INS	-	-	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:72740374_72740375insA	ENST00000272427.6	-	11	1183_1184	c.1053_1054insT	c.(1051-1056)tttgtgfs	p.V352fs	EXOC6B_ENST00000410104.1_Frame_Shift_Ins_p.V352fs	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	352					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						TCTTCAACCACAAAAAAGCTAA	0.376																																						ENST00000272427.6																			0				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						c.(1051-1056)tttggtfs		exocyst complex component 6B																																				SO:0001589	frameshift_variant	23233				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr2:72740374_72740375insA	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.1054dupT	2.37:g.72740380_72740380dupA	ENSP00000272427:p.Val352fs					EXOC6B_ENST00000410104.1_Frame_Shift_Ins_p.G352fs	p.G352fs	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN			11	1183_1184	-			352					B8ZZY3	Frame_Shift_Ins	INS	ENST00000272427.6	37	c.1053_1054insT	CCDS46333.1																																																																																				0.376	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327558.1	XM_039570		14	83						14	83	---	---	---	---
C2orf78	388960	broad.mit.edu	37	2	74043174	74043175	+	Frame_Shift_Ins	INS	-	-	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:74043174_74043175insA	ENST00000409561.1	+	3	1945_1946	c.1824_1825insA	c.(1825-1827)aaafs	p.K609fs		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	609	Lys-rich.									cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TGAAACGGAAGAAAAATCAACC	0.45																																						ENST00000409561.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						c.(1822-1827)aaaaaafs		chromosome 2 open reading frame 78																																				SO:0001589	frameshift_variant	388960							g.chr2:74043174_74043175insA	AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.1829dupA	2.37:g.74043179_74043179dupA	ENSP00000387124:p.Lys609fs						p.KK608fs	NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN			3	1945_1946	+			608			Lys-rich.			Frame_Shift_Ins	INS	ENST00000409561.1	37	c.1824_1825insA	CCDS46338.1																																																																																				0.450	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474		8	55						8	55	---	---	---	---
TMEM131	23505	broad.mit.edu	37	2	98378554	98378554	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:98378554delG	ENST00000186436.5	-	36	5061	c.4833delC	c.(4831-4833)cccfs	p.P1611fs		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1611						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CAAAGGGGCAGGGGGCAGCTG	0.562																																						ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(4831-4833)ccfs		transmembrane protein 131							49.0	57.0	54.0					2																	98378554		1910	4114	6024	SO:0001589	frameshift_variant	23505					integral to membrane		g.chr2:98378554delG	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.4833delC	2.37:g.98378554delG	ENSP00000186436:p.Pro1611fs						p.P1611fs	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			36	5061	-			1611						Frame_Shift_Del	DEL	ENST00000186436.5	37	c.4833delC	CCDS46368.1																																																																																				0.562	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		9	29						9	29	---	---	---	---
MRPL30	51263	broad.mit.edu	37	2	99804703	99804704	+	Frame_Shift_Del	DEL	TC	TC	-	rs201273982		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:99804703_99804704delTC	ENST00000338148.3	+	3	313_314	c.115_116delTC	c.(115-117)tcafs	p.S39fs	C2orf15_ENST00000512183.2_Frame_Shift_Del_p.S39fs|MRPL30_ENST00000409145.1_Frame_Shift_Del_p.S39fs|MRPL30_ENST00000410042.1_Frame_Shift_Del_p.S39fs|MRPL30_ENST00000465432.1_Intron	NM_145212.3	NP_660213.1	Q8TCC3	RM30_HUMAN	mitochondrial ribosomal protein L30	39						mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						ATTCACCAGATCAAGAATTCCA	0.282																																						ENST00000338148.3																			0				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(115-117)afs		mitochondrial ribosomal protein L30																																				SO:0001589	frameshift_variant	51263				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr2:99804703_99804704delTC	AB051342	CCDS2041.1	2q11.2	2012-09-13			ENSG00000185414	ENSG00000185414		"""Mitochondrial ribosomal proteins / large subunits"""	14036	protein-coding gene	gene with protein product		611838					Standard	NM_145212		Approved	MRP-L28, RPML28	uc002szv.3	Q8TCC3	OTTHUMG00000130642	ENST00000338148.3:c.115_116delTC	2.37:g.99804703_99804704delTC	ENSP00000338057:p.Ser39fs					C2orf15_ENST00000512183.2_Frame_Shift_Del_p.S39fs|MRPL30_ENST00000410042.1_Frame_Shift_Del_p.S39fs|MRPL30_ENST00000409145.1_Frame_Shift_Del_p.S39fs|MRPL30_ENST00000465432.1_Intron	p.S39fs	NM_145212.3	NP_660213.1	Q8TCC3	RM30_HUMAN			3	313_314	+			39					A6NIC6|D3DVI0|D3DVI3|Q0D2Q7|Q6ZTP4|Q96Q69|Q9P0N0	Frame_Shift_Del	DEL	ENST00000338148.3	37	c.115_116delTC	CCDS2041.1																																																																																				0.282	MRPL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253130.2			12	33						12	33	---	---	---	---
AFF3	3899	broad.mit.edu	37	2	100171155	100171155	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:100171155delC	ENST00000409236.2	-	21	3437	c.3325delG	c.(3325-3327)gccfs	p.A1109fs	AFF3_ENST00000356421.2_Frame_Shift_Del_p.A1134fs|AFF3_ENST00000317233.4_Frame_Shift_Del_p.A1109fs|AFF3_ENST00000409579.1_Frame_Shift_Del_p.A1134fs			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	1109					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TTTCCACTGGCCCCCCACGGA	0.522																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(3325-3327)ccfs		AF4/FMR2 family, member 3							55.0	53.0	54.0					2																	100171155		2203	4300	6503	SO:0001589	frameshift_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100171155delC	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.3325delG	2.37:g.100171155delC	ENSP00000387207:p.Ala1109fs					AFF3_ENST00000409579.1_Frame_Shift_Del_p.A1134fs|AFF3_ENST00000356421.2_Frame_Shift_Del_p.A1134fs|AFF3_ENST00000409236.1_Frame_Shift_Del_p.A1109fs	p.A1109fs	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			22	3560	-			1109					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Frame_Shift_Del	DEL	ENST00000409236.2	37	c.3325delG	CCDS42723.1																																																																																				0.522	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		9	80						9	80	---	---	---	---
BUB1	699	broad.mit.edu	37	2	111413465	111413465	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:111413465delA	ENST00000302759.6	-	16	1845	c.1727delT	c.(1726-1728)ttgfs	p.L576fs	BUB1_ENST00000535254.1_Frame_Shift_Del_p.L556fs|BUB1_ENST00000409311.1_Frame_Shift_Del_p.L576fs	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	576					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TGAGTCATCCAAAAACTCTTC	0.438																																						ENST00000535254.1																			0				breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45						c.(1666-1668)tgfs		BUB1 mitotic checkpoint serine/threonine kinase							224.0	219.0	221.0					2																	111413465		2203	4300	6503	SO:0001589	frameshift_variant	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111413465delA	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.1727delT	2.37:g.111413465delA	ENSP00000302530:p.Leu576fs					BUB1_ENST00000302759.6_Frame_Shift_Del_p.L576fs|BUB1_ENST00000409311.1_Frame_Shift_Del_p.L576fs	p.L556fs	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	15	1734	-		Ovarian(717;0.0822)	576					E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Frame_Shift_Del	DEL	ENST00000302759.6	37	c.1667delT	CCDS33273.1																																																																																				0.438	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336		60	231						60	231	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141356335	141356336	+	Frame_Shift_Ins	INS	-	-	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:141356335_141356336insT	ENST00000389484.3	-	43	8029_8030	c.7058_7059insA	c.(7057-7059)aatfs	p.N2353fs		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2353					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCACTTGAGCATTTTTCCCAGT	0.366										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(7057-7059)agcfs		low density lipoprotein receptor-related protein 1B																																				SO:0001589	frameshift_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141356335_141356336insT	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.7059dupA	2.37:g.141356340_141356340dupT	ENSP00000374135:p.Asn2353fs	TSP Lung(27;0.18)					p.S2353fs	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	43	8029_8030	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2353					Q8WY29|Q8WY30|Q8WY31	Frame_Shift_Ins	INS	ENST00000389484.3	37	c.7058_7059insA	CCDS2182.1																																																																																				0.366	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		25	98						25	98	---	---	---	---
ERMN	57471	broad.mit.edu	37	2	158178245	158178247	+	In_Frame_Del	DEL	CTT	CTT	-	rs376833308		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:158178245_158178247delCTT	ENST00000410096.1	-	3	682_684	c.391_393delAAG	c.(391-393)aagdel	p.K131del	ERMN_ENST00000535935.1_In_Frame_Del_p.K25del|ERMN_ENST00000397283.2_In_Frame_Del_p.K144del|ERMN_ENST00000409216.1_3'UTR|ERMN_ENST00000420719.2_In_Frame_Del_p.K111del	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	131					actin filament organization (GO:0007015)|morphogenesis of a branching structure (GO:0001763)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|internode region of axon (GO:0033269)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|paranode region of axon (GO:0033270)				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						TAATCCTCTCCTTCTGTCTTCTT	0.448																																						ENST00000410096.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						c.(391-393)del		ermin, ERM-like protein																																				SO:0001651	inframe_deletion	57471					cytoplasm|cytoskeleton		g.chr2:158178245_158178247delCTT	AB033015	CCDS42764.1, CCDS46431.1	2q24	2008-02-05	2008-01-15	2008-01-15	ENSG00000136541	ENSG00000136541			29208	protein-coding gene	gene with protein product	"""juxtanodin"", ""ermin"""	610072	"""KIAA1189"""	KIAA1189		16051705, 16421295	Standard	NM_020711		Approved	JN, ERMIN	uc002tzi.3	Q8TAM6	OTTHUMG00000153843	ENST00000410096.1:c.391_393delAAG	2.37:g.158178245_158178247delCTT	ENSP00000387047:p.Lys131del					ERMN_ENST00000535935.1_In_Frame_Del_p.K25del|ERMN_ENST00000409216.1_3'UTR|ERMN_ENST00000420719.2_In_Frame_Del_p.K111del|ERMN_ENST00000397283.2_In_Frame_Del_p.K144del	p.K131del	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN			3	682_684	-			131					B4DKA6|Q9ULN1	In_Frame_Del	DEL	ENST00000410096.1	37	c.391_393delAAG	CCDS46431.1																																																																																				0.448	ERMN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332659.1	NM_001009959		24	80						24	80	---	---	---	---
HOXD13	3239	broad.mit.edu	37	2	176957811	176957813	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:176957811_176957813delGCG	ENST00000392539.3	+	1	193_195	c.193_195delGCG	c.(193-195)gcgdel	p.A71del		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	71	Poly-Ala.				anterior/posterior pattern specification (GO:0009952)|branch elongation of an epithelium (GO:0060602)|embryonic digit morphogenesis (GO:0042733)|embryonic hindgut morphogenesis (GO:0048619)|male genitalia development (GO:0030539)|morphogenesis of an epithelial fold (GO:0060571)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		agcggcggctgcggcggcggcgg	0.773			T	NUP98	AML*																																	ENST00000392539.3				Dom	yes		2	2q31-q32	3239	T	homeo box D13			L	NUP98		AML*		0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6						c.(193-195)del		homeobox D13				49,613		22,5,304						-0.8	0.2			3	83,1835		34,15,910	no	coding	HOXD13	NM_000523.3		56,20,1214	A1A1,A1R,RR		4.3274,7.4018,5.1163				132,2448				SO:0001651	inframe_deletion	3239				skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding	g.chr2:176957811_176957813delGCG	AF005219	CCDS2264.2	2q31.1	2011-06-20	2005-12-22		ENSG00000128714	ENSG00000128714		"""Homeoboxes / ANTP class : HOXL subclass"""	5136	protein-coding gene	gene with protein product		142989	"""homeo box D13"""	HOX4I, SPD		2574852, 1973146	Standard	NM_000523		Approved		uc002ukf.1	P35453	OTTHUMG00000132431	ENST00000392539.3:c.193_195delGCG	2.37:g.176957820_176957822delGCG	ENSP00000376322:p.Ala71del						p.A71del	NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)	1	193_195	+			71			Poly-Ala.			In_Frame_Del	DEL	ENST00000392539.3	37	c.193_195delGCG	CCDS2264.2																																																																																				0.773	HOXD13-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359256.1			3	4						3	4	---	---	---	---
ALS2	57679	broad.mit.edu	37	2	202622168	202622169	+	Frame_Shift_Del	DEL	CT	CT	-	rs386134176		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:202622168_202622169delCT	ENST00000264276.6	-	5	1799_1800	c.1427_1428delAG	c.(1426-1428)gagfs	p.E476fs		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	476					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GACTGCCTCCCTCTGTTTCTTC	0.436																																						ENST00000264276.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72	GRCh37	CD013132	ALS2	D		c.(1426-1428)gfs		amyotrophic lateral sclerosis 2 (juvenile)																																				SO:0001589	frameshift_variant	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202622168_202622169delCT	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.1427_1428delAG	2.37:g.202622170_202622171delCT	ENSP00000264276:p.Glu476fs						p.E476fs	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN			5	1799_1800	-			476					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Frame_Shift_Del	DEL	ENST00000264276.6	37	c.1427_1428delAG	CCDS42800.1																																																																																				0.436	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		52	84						52	84	---	---	---	---
AC072062.1	0	broad.mit.edu	37	2	215712226	215712227	+	RNA	INS	-	-	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:215712226_215712227insA	ENST00000607412.1	+	0	321				SNORA70_ENST00000384544.1_RNA																							TACTTCCTGTCAAAAAAATGTC	0.386																																						ENST00000607412.1																			0																																																			0							g.chr2:215712226_215712227insA																													2.37:g.215712233_215712233dupA														0	321	+									RNA	INS	ENST00000607412.1	37																																																																																						0.386	AC072062.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000337107.2			8	32						8	32	---	---	---	---
SPEG	10290	broad.mit.edu	37	2	220312872	220312872	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:220312872delC	ENST00000312358.7	+	4	1124	c.992delC	c.(991-993)accfs	p.T331fs	SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396698.1_Frame_Shift_Del_p.T227fs|SPEG_ENST00000396695.2_5'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	331	Pro-rich.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCGCGGCCACCCCCACGTCG	0.736																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(991-993)acfs		SPEG complex locus							8.0	11.0	10.0					2																	220312872		1840	4019	5859	SO:0001589	frameshift_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220312872delC	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.992delC	2.37:g.220312872delC	ENSP00000311684:p.Thr331fs					SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000396698.1_Frame_Shift_Del_p.T227fs|SPEG_ENST00000485813.1_3'UTR	p.T331fs	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	4	1124	+		Renal(207;0.0183)	331			Pro-rich.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Frame_Shift_Del	DEL	ENST00000312358.7	37	c.992delC	CCDS42824.1																																																																																				0.736	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		7	15						7	15	---	---	---	---
HJURP	55355	broad.mit.edu	37	2	234749677	234749679	+	In_Frame_Del	DEL	TTC	TTC	-	rs536615666|rs533717035		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:234749677_234749679delTTC	ENST00000411486.2	-	8	1812_1814	c.1747_1749delGAA	c.(1747-1749)gaadel	p.E583del	HJURP_ENST00000432087.1_In_Frame_Del_p.E529del|HJURP_ENST00000441687.1_In_Frame_Del_p.E498del|HJURP_ENST00000434039.1_5'Flank	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	583					cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802)			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		GCTTGTCAAATTCTTCTTTAATT	0.404																																						ENST00000411486.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1747-1749)del		Holliday junction recognition protein																																				SO:0001651	inframe_deletion	55355				cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding	g.chr2:234749677_234749679delTTC		CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.1747_1749delGAA	2.37:g.234749680_234749682delTTC	ENSP00000414109:p.Glu583del					HJURP_ENST00000441687.1_In_Frame_Del_p.E498del|HJURP_ENST00000432087.1_In_Frame_Del_p.E529del	p.E583del	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)	8	1812_1814	-		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)	583					A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	In_Frame_Del	DEL	ENST00000411486.2	37	c.1747_1749delGAA	CCDS33406.1																																																																																				0.404	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130996.6	NM_018410		18	165						18	165	---	---	---	---
CELSR3	1951	broad.mit.edu	37	3	48699646	48699648	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:48699646_48699648delGAG	ENST00000164024.4	-	1	700_702	c.420_422delCTC	c.(418-423)tcctct>tct	p.140_141SS>S	CELSR3_ENST00000544264.1_In_Frame_Del_p.140_141SS>S|RP11-148G20.1_ENST00000421275.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	140					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCGCCCGCAAGAGGAGACCTCTG	0.635																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(418-423)tct>tc		cadherin, EGF LAG seven-pass G-type receptor 3																																				SO:0001651	inframe_deletion	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48699646_48699648delGAG	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.420_422delCTC	3.37:g.48699649_48699651delGAG	ENSP00000164024:p.Ser141del					CELSR3_ENST00000164024.4_In_Frame_Del_p.SS140del	p.SS140del			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	700_702	-			140					O75092	In_Frame_Del	DEL	ENST00000164024.4	37	c.420_422delCTC	CCDS2775.1																																																																																				0.635	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		69	38						69	38	---	---	---	---
RBM6	10180	broad.mit.edu	37	3	50099449	50099450	+	Frame_Shift_Ins	INS	-	-	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:50099449_50099450insA	ENST00000266022.4	+	15	2753_2754	c.2494_2495insA	c.(2494-2496)gaafs	p.E832fs	RBM6_ENST00000539992.1_Frame_Shift_Ins_p.E174fs|RBM6_ENST00000422955.1_Frame_Shift_Ins_p.E310fs|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000442092.1_Frame_Shift_Ins_p.E310fs|RBM6_ENST00000443081.1_Frame_Shift_Ins_p.E700fs	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	832					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AGAGATCAAGGAAAAAAAACCC	0.426																																						ENST00000443081.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33						c.(2098-2100)aaafs		RNA binding motif protein 6																																				SO:0001589	frameshift_variant	10180				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr3:50099449_50099450insA	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.2502dupA	3.37:g.50099457_50099457dupA	ENSP00000266022:p.Glu832fs					RBM6_ENST00000442092.1_Frame_Shift_Ins_p.K310fs|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000422955.1_Frame_Shift_Ins_p.K310fs|RBM6_ENST00000266022.4_Frame_Shift_Ins_p.K832fs|RBM6_ENST00000539992.1_Frame_Shift_Ins_p.K174fs	p.K700fs			P78332	RBM6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)	15	3017_3018	+			832					O60549|O75524|Q86SS3	Frame_Shift_Ins	INS	ENST00000266022.4	37	c.2098_2099insA	CCDS2809.1																																																																																				0.426	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		41	19						41	19	---	---	---	---
NT5DC2	64943	broad.mit.edu	37	3	52559266	52559266	+	Frame_Shift_Del	DEL	G	G	-	rs200773348	byFrequency	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:52559266delG	ENST00000307076.4	-	11	1454	c.1054delC	c.(1054-1056)cgcfs	p.R352fs	NT5DC2_ENST00000307092.4_Frame_Shift_Del_p.R293fs|NT5DC2_ENST00000422318.2_Frame_Shift_Del_p.R389fs|NT5DC2_ENST00000459839.1_Frame_Shift_Del_p.R364fs	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	352							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		TAGAGCACGCGGGGGCCACGC	0.642																																						ENST00000307076.4																			0				endometrium(1)|lung(3)|prostate(1)|stomach(1)	6						c.(1054-1056)gcfs		5'-nucleotidase domain containing 2							51.0	46.0	48.0					3																	52559266		2200	4299	6499	SO:0001589	frameshift_variant	64943						hydrolase activity|metal ion binding	g.chr3:52559266delG	AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268			25717	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_022908		Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.1054delC	3.37:g.52559266delG	ENSP00000302468:p.Arg352fs					NT5DC2_ENST00000422318.2_Frame_Shift_Del_p.R389fs|NT5DC2_ENST00000307092.4_Frame_Shift_Del_p.R293fs|NT5DC2_ENST00000459839.1_Frame_Shift_Del_p.R364fs	p.R352fs	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)	11	1454	-			352					C9JTZ6|E9PAL9|O95888|Q96C80|Q9H9Z8	Frame_Shift_Del	DEL	ENST00000307076.4	37	c.1054delC	CCDS2858.1																																																																																				0.642	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000351509.1	NM_022908		11	24						11	24	---	---	---	---
ZBTB20	26137	broad.mit.edu	37	3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:114058003delG	ENST00000474710.1	-	5	2253	c.2075delC	c.(2074-2076)cctfs	p.P692fs	ZBTB20_ENST00000393785.2_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000464560.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000462705.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000481632.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000471418.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000357258.3_Frame_Shift_Del_p.P619fs	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	692						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.P619fs*43(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGTGCCTGCAGGGGGGGTCCC	0.632																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			1	Deletion - Frameshift(1)	p.P619fs*43(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1855-1857)ctfs		zinc finger and BTB domain containing 20							56.0	55.0	55.0					3																	114058003		2203	4300	6503	SO:0001589	frameshift_variant	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114058003delG	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.2075delC	3.37:g.114058003delG	ENSP00000419153:p.Pro692fs					ZBTB20_ENST00000481632.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000393785.2_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000474710.1_Frame_Shift_Del_p.P692fs|ZBTB20_ENST00000471418.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000464560.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000357258.3_Frame_Shift_Del_p.P619fs	p.P619fs	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	12	2677	-			692					Q63HP6|Q8N6R5|Q9Y410	Frame_Shift_Del	DEL	ENST00000474710.1	37	c.1856delC	CCDS54626.1																																																																																				0.632	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		25	68						25	68	---	---	---	---
PLCH1	23007	broad.mit.edu	37	3	155301373	155301374	+	Frame_Shift_Ins	INS	-	-	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:155301373_155301374insA	ENST00000340059.7	-	5	621_622	c.622_623insT	c.(622-624)tacfs	p.Y208fs	PLCH1_ENST00000460012.1_Frame_Shift_Ins_p.Y190fs|PLCH1_ENST00000414191.1_Frame_Shift_Ins_p.Y190fs|PLCH1_ENST00000447496.2_Frame_Shift_Ins_p.Y208fs|PLCH1_ENST00000494598.1_Frame_Shift_Ins_p.Y208fs|PLCH1_ENST00000334686.6_Frame_Shift_Ins_p.Y190fs	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	208	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CATCATTTTGTAAAAAACACAG	0.361																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(568-570)caafs		phospholipase C, eta 1																																				SO:0001589	frameshift_variant	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155301373_155301374insA	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.623dupT	3.37:g.155301379_155301379dupA	ENSP00000345988:p.Tyr208fs					PLCH1_ENST00000447496.2_Frame_Shift_Ins_p.Q208fs|PLCH1_ENST00000414191.1_Frame_Shift_Ins_p.Q190fs|PLCH1_ENST00000334686.6_Frame_Shift_Ins_p.Q190fs|PLCH1_ENST00000494598.1_Frame_Shift_Ins_p.Q208fs|PLCH1_ENST00000340059.7_Frame_Shift_Ins_p.Q208fs	p.Q190fs			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		6	925_926	-			208			EF-hand 2.		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Frame_Shift_Ins	INS	ENST00000340059.7	37	c.568_569insT	CCDS46939.1																																																																																				0.361	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		18	73						18	73	---	---	---	---
SLC33A1	9197	broad.mit.edu	37	3	155560343	155560344	+	Frame_Shift_Ins	INS	-	-	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:155560343_155560344insT	ENST00000392845.3	-	2	1220_1221	c.840_841insA	c.(838-843)aaagaafs	p.E281fs	SLC33A1_ENST00000460729.1_5'Flank|SLC33A1_ENST00000359479.3_Frame_Shift_Ins_p.E281fs			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	281					acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	acetyl-CoA transporter activity (GO:0008521)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ACTTCGTTTTCTTTTTTCAGAA	0.292																																						ENST00000392845.2																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22						c.(838-843)aaaaaafs		solute carrier family 33 (acetyl-CoA transporter), member 1																																				SO:0001589	frameshift_variant	9197				cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity	g.chr3:155560343_155560344insT	D88152	CCDS3173.1	3q25.31	2013-05-22		2002-12-06	ENSG00000169359	ENSG00000169359		"""Solute carriers"""	95	protein-coding gene	gene with protein product		603690	"""acetyl-Coenzyme A transporter"", ""spastic paraplegia 42 (autosomal dominant)"""	ACATN, SPG42		9096318, 19061983	Standard	NM_004733		Approved	AT-1, AT1	uc003fao.2	O00400	OTTHUMG00000158481	ENST00000392845.3:c.841dupA	3.37:g.155560349_155560349dupT	ENSP00000376587:p.Glu281fs					SLC33A1_ENST00000359479.3_Frame_Shift_Ins_p.KK280fs	p.KK280fs	NM_004733.3	NP_004724.1	O00400	ACATN_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		2	1220_1221	-			280					B2R5Q2|D3DNK4	Frame_Shift_Ins	INS	ENST00000392845.3	37	c.840_841insA	CCDS3173.1																																																																																				0.292	SLC33A1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351130.3	NM_004733		8	86						8	86	---	---	---	---
HGFAC	3083	broad.mit.edu	37	4	3449218	3449219	+	Splice_Site	INS	-	-	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:3449218_3449219insC	ENST00000382774.3	+	11	1470_1471		c.e11-1		HGFAC_ENST00000511533.1_Splice_Site	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator						proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.R455fs*91(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCCTTGCACAGCCCCCCCAGGG	0.673																																						ENST00000382774.3																			1	Unknown(1)	p.R455fs*91(1)	large_intestine(1)	central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.e11-1		HGF activator				7,4259		0,7,2126						3.6	0.9			59	8,8244		0,8,4118	no	frameshift-near-splice	HGFAC	NM_001528.2		0,15,6244	A1A1,A1R,RR		0.0969,0.1641,0.1198				15,12503				SO:0001630	splice_region_variant	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3449218_3449219insC	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.1356-1->C	4.37:g.3449225_3449225dupC						HGFAC_ENST00000511533.1_Splice_Site		NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	11	1470_1471	+								Q14726|Q2M1W7|Q53X47	Splice_Site	INS	ENST00000382774.3	37		CCDS3369.1																																																																																				0.673	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3		Intron	8	101						8	101	---	---	---	---
RBPJ	3516	broad.mit.edu	37	4	26426078	26426078	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:26426078delG	ENST00000361572.6	+	6	844	c.650delG	c.(649-651)tggfs	p.W217fs	RBPJ_ENST00000342320.4_Frame_Shift_Del_p.W203fs|RBPJ_ENST00000348160.4_Frame_Shift_Del_p.W204fs|RBPJ_ENST00000342295.1_Frame_Shift_Del_p.W217fs|RBPJ_ENST00000504907.1_Frame_Shift_Del_p.W203fs|RBPJ_ENST00000355476.3_Frame_Shift_Del_p.W203fs|RBPJ_ENST00000345843.3_Frame_Shift_Del_p.W202fs|RBPJ_ENST00000507561.1_Frame_Shift_Del_p.W182fs			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	217					angiogenesis (GO:0001525)|arterial endothelial cell fate commitment (GO:0060844)|atrioventricular canal development (GO:0036302)|auditory receptor cell fate commitment (GO:0009912)|B cell differentiation (GO:0030183)|blood vessel endothelial cell fate specification (GO:0097101)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac left ventricle morphogenesis (GO:0003214)|Clara cell differentiation (GO:0060486)|defense response to bacterium (GO:0042742)|DNA recombination (GO:0006310)|dorsal aorta morphogenesis (GO:0035912)|endocardium morphogenesis (GO:0003160)|epidermal cell fate specification (GO:0009957)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|gene expression (GO:0010467)|hair follicle maturation (GO:0048820)|humoral immune response (GO:0006959)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901297)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of ephrin receptor signaling pathway (GO:1901189)|positive regulation of ERBB signaling pathway (GO:1901186)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription of Notch receptor target (GO:0007221)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|sebaceous gland development (GO:0048733)|secondary heart field specification (GO:0003139)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|recombinase activity (GO:0000150)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				TCACAGCAGTGGGGAGCCTTT	0.363																																						ENST00000342320.4																			0				central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15						c.(607-609)tgfs		recombination signal binding protein for immunoglobulin kappa J region							122.0	127.0	125.0					4																	26426078		2203	4300	6503	SO:0001589	frameshift_variant	3516				DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity	g.chr4:26426078delG	L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214			5724	protein-coding gene	gene with protein product	"""suppressor of hairless homolog (Drosophila)"""	147183	"""recombining binding protein suppressor of hairless (Drosophila)"""	IGKJRB1, RBPSUH		8406481, 9290259	Standard	NM_005349		Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000361572.6:c.650delG	4.37:g.26426078delG	ENSP00000354528:p.Trp217fs					RBPJ_ENST00000507561.1_Frame_Shift_Del_p.W182fs|RBPJ_ENST00000355476.3_Frame_Shift_Del_p.W203fs|RBPJ_ENST00000348160.4_Frame_Shift_Del_p.W204fs|RBPJ_ENST00000361572.6_Frame_Shift_Del_p.W217fs|RBPJ_ENST00000345843.3_Frame_Shift_Del_p.W202fs|RBPJ_ENST00000504907.1_Frame_Shift_Del_p.W203fs|RBPJ_ENST00000342295.1_Frame_Shift_Del_p.W217fs	p.W203fs			Q06330	SUH_HUMAN			6	784	+		Breast(46;0.0503)	217					B4DY22|Q5XKH9|Q6P1N3	Frame_Shift_Del	DEL	ENST00000361572.6	37	c.608delG	CCDS3437.1																																																																																				0.363	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2	NM_015874		99	35						99	35	---	---	---	---
FAM175A	84142	broad.mit.edu	37	4	84390298	84390298	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:84390298delA	ENST00000321945.7	-	6	591	c.483delT	c.(481-483)tttfs	p.F161fs	MRPS18C_ENST00000509571.1_Intron|FAM175A_ENST00000506553.1_Frame_Shift_Del_p.F112fs|FAM175A_ENST00000505489.1_5'UTR	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	161					chromatin modification (GO:0016568)|double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						GTACCCTGTGAAAAAGTCTGA	0.378																																						ENST00000321945.7																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						c.(481-483)ttfs		family with sequence similarity 175, member A							79.0	85.0	83.0					4																	84390298		2203	4300	6503	SO:0001589	frameshift_variant	84142				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding	g.chr4:84390298delA	AK023676	CCDS3605.2	4q21.23	2008-10-31	2008-07-02	2008-07-02	ENSG00000163322	ENSG00000163322			25829	protein-coding gene	gene with protein product	"""Abraxas protein"""	611143	"""coiled-coil domain containing 98"""	CCDC98		12975309, 17525340	Standard	NM_139076		Approved	FLJ13614, ABRA1	uc003hou.2	Q6UWZ7	OTTHUMG00000130429	ENST00000321945.7:c.483delT	4.37:g.84390298delA	ENSP00000369857:p.Phe161fs					FAM175A_ENST00000506553.1_Frame_Shift_Del_p.F112fs|MRPS18C_ENST00000509571.1_Intron|FAM175A_ENST00000505489.1_5'UTR	p.F161fs	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN			6	591	-			161					A5JJ07|Q9H8I1|Q9H9N4	Frame_Shift_Del	DEL	ENST00000321945.7	37	c.483delT	CCDS3605.2																																																																																				0.378	FAM175A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252818.1	NM_139076		7	127						7	127	---	---	---	---
SDHAP3	728609	broad.mit.edu	37	5	1593156	1593156	+	lincRNA	DEL	A	A	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:1593156delA	ENST00000605200.1	+	0	0				SDHAP3_ENST00000436493.2_RNA																							accctttctcaaaaaaaagaa	0.507																																						ENST00000436493.2																			0																																																			728609							g.chr5:1593156delA																													5.37:g.1593156delA														0	398	-									RNA	DEL	ENST00000605200.1	37																																																																																						0.507	CTD-2012J19.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469651.1			10	16						10	16	---	---	---	---
TRIO	7204	broad.mit.edu	37	5	14477004	14477004	+	Splice_Site	DEL	T	T	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:14477004delT	ENST00000344204.4	+	41	6109	c.6085delT	c.(6085-6087)ttt>tt	p.F2030fs	TRIO_ENST00000537187.1_Splice_Site_p.F2030fs	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2030	DH 2. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCTTTCCAGCTTTTTTTTAGG	0.308																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.e41-1		trio Rho guanine nucleotide exchange factor							78.0	74.0	75.0					5																	14477004		2203	4300	6503	SO:0001630	splice_region_variant	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14477004delT	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.6084-1T>-	5.37:g.14477004delT						TRIO_ENST00000537187.1_Splice_Site_p.F2030_splice	p.F2030_splice	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			41	6109	+	Lung NSC(4;0.000742)		2030			DH 2.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Splice_Site	DEL	ENST00000344204.4	37	c.6083_splice	CCDS3883.1																																																																																				0.308	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118	Frame_Shift_Del	16	64						16	64	---	---	---	---
HARS2	23438	broad.mit.edu	37	5	140078098	140078098	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:140078098delT	ENST00000230771.3	+	13	1705	c.1482delT	c.(1480-1482)aatfs	p.N494fs	ZMAT2_ENST00000274712.3_5'Flank|HARS2_ENST00000448069.2_Frame_Shift_Del_p.N322fs|HARS2_ENST00000435019.2_Frame_Shift_Del_p.N454fs|HARS2_ENST00000508522.1_Frame_Shift_Del_p.N469fs|HARS2_ENST00000432671.2_Frame_Shift_Del_p.N380fs|HARS2_ENST00000437649.2_Frame_Shift_Del_p.N420fs	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	494					gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGGGAAAATTTTGTGGCTG	0.398																																						ENST00000230771.3																			0				NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19						c.(1480-1482)aafs		histidyl-tRNA synthetase 2, mitochondrial							200.0	198.0	198.0					5																	140078098		2203	4300	6503	SO:0001589	frameshift_variant	23438				histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity	g.chr5:140078098delT	U18937	CCDS4238.1, CCDS64267.1	5q31.3	2012-07-20	2012-07-20	2007-02-23	ENSG00000112855	ENSG00000112855	6.1.1.21	"""Aminoacyl tRNA synthetases / Class II"""	4817	protein-coding gene	gene with protein product	"""histidine tRNA ligase 2, mitochondrial (putative)"""	600783	"""histidyl-tRNA synthetase-like"""	HARSL		7755634, 21464306	Standard	NM_012208		Approved	HO3, HARSR	uc003lgx.3	P49590	OTTHUMG00000129500	ENST00000230771.3:c.1482delT	5.37:g.140078098delT	ENSP00000230771:p.Asn494fs					HARS2_ENST00000508522.1_Frame_Shift_Del_p.N469fs|HARS2_ENST00000437649.2_Frame_Shift_Del_p.N420fs|HARS2_ENST00000435019.2_Frame_Shift_Del_p.N454fs|HARS2_ENST00000432671.2_Frame_Shift_Del_p.N380fs|HARS2_ENST00000448069.2_Frame_Shift_Del_p.N322fs	p.N494fs	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		13	1705	+			494					B4DDY8	Frame_Shift_Del	DEL	ENST00000230771.3	37	c.1482delT	CCDS4238.1																																																																																				0.398	HARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251670.2	NM_012208		8	218						8	218	---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176696801	176696802	+	Frame_Shift_Ins	INS	-	-	A	rs369086894		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:176696801_176696802insA	ENST00000439151.2	+	16	5547_5548	c.5502_5503insA	c.(5503-5505)aaafs	p.K1835fs	NSD1_ENST00000347982.4_Frame_Shift_Ins_p.K1566fs|NSD1_ENST00000361032.4_Frame_Shift_Ins_p.K1732fs|NSD1_ENST00000354179.4_Frame_Shift_Ins_p.K1566fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1835					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.A1837fs*10(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ATGGGACATATAAAAAAGGTAA	0.426			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		1	Insertion - Frameshift(1)	p.A1837fs*10(1)	upper_aerodigestive_tract(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(5500-5505)taaaaafs		nuclear receptor binding SET domain protein 1																																				SO:0001589	frameshift_variant	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176696801_176696802insA	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.5508dupA	5.37:g.176696807_176696807dupA	ENSP00000395929:p.Lys1835fs	HNSCC(47;0.14)				NSD1_ENST00000347982.4_Frame_Shift_Ins_p.*K1565fs|NSD1_ENST00000361032.4_Frame_Shift_Ins_p.*K1731fs|NSD1_ENST00000354179.4_Frame_Shift_Ins_p.*K1565fs	p.*K1834fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	16	5547_5548	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1834					Q96PD8|Q96RN7	Frame_Shift_Ins	INS	ENST00000439151.2	37	c.5502_5503insA	CCDS4412.1																																																																																				0.426	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		31	19						31	19	---	---	---	---
PPP1R18	170954	broad.mit.edu	37	6	30652622	30652623	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:30652622_30652623delCT	ENST00000274853.3	-	1	3049_3050	c.1173_1174delAG	c.(1171-1176)agagccfs	p.RA391fs	PPP1R18_ENST00000399199.3_Frame_Shift_Del_p.RA391fs|PPP1R18_ENST00000488324.1_Intron	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	391						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											TTCTGCAGGGCTCTCAGAGGCC	0.649																																						ENST00000274853.3																			0											c.(1171-1176)agccfs		protein phosphatase 1, regulatory subunit 18																																				SO:0001589	frameshift_variant	170954					cytoplasm|cytoskeleton	actin binding	g.chr6:30652622_30652623delCT	AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29413	protein-coding gene	gene with protein product	"""protein phosphatase 1 F-actin cytoskeleton targeting subunit"""	610990	"""KIAA1949"""	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.1173_1174delAG	6.37:g.30652624_30652625delCT	ENSP00000274853:p.Arg391fs					PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_Frame_Shift_Del_p.RA391fs	p.RA391fs	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN			1	3049_3050	-			391					A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	Frame_Shift_Del	DEL	ENST00000274853.3	37	c.1173_1174delAG	CCDS43444.1																																																																																				0.649	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076498.2	NM_133471		9	102						9	102	---	---	---	---
SLC44A4	80736	broad.mit.edu	37	6	31842534	31842535	+	Frame_Shift_Ins	INS	-	-	T	rs114957103	byFrequency	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:31842534_31842535insT	ENST00000229729.6	-	6	451_452	c.431_432insA	c.(430-432)aacfs	p.N144fs	SLC44A4_ENST00000375562.4_Intron|SLC44A4_ENST00000544672.1_Frame_Shift_Ins_p.N68fs|SLC44A4_ENST00000465707.1_5'UTR	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	144				NR -> SS (in Ref. 1; BAB55083). {ECO:0000305}.	acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	AAAAGTTCCTGTTTTTTGTATA	0.545																																						ENST00000544672.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35						c.(202-204)aagfs		solute carrier family 44, member 4	Choline(DB00122)		,,	1,4263		0,1,2131					,,	-8.3	0.0			70	0,8254		0,0,4127	no	frameshift,frameshift,intron	SLC44A4	NM_025257.2,NM_001178045.1,NM_001178044.1	,,	0,1,6258	A1A1,A1R,RR		0.0,0.0235,0.0080	,,	,,		1,12517				SO:0001589	frameshift_variant	80736					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr6:31842534_31842535insT	AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"""Solute carriers"""	13941	protein-coding gene	gene with protein product		606107	"""chromosome 6 open reading frame 29"""	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.432dupA	6.37:g.31842540_31842540dupT	ENSP00000229729:p.Asn144fs					SLC44A4_ENST00000229729.6_Frame_Shift_Ins_p.K144fs|SLC44A4_ENST00000465707.1_5'UTR|SLC44A4_ENST00000375562.4_Intron	p.K68fs	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN			6	499_500	-			144					A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Frame_Shift_Ins	INS	ENST00000229729.6	37	c.203_204insA	CCDS4724.2																																																																																				0.545	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3			21	77						21	77	---	---	---	---
GLTSCR1L	23506	broad.mit.edu	37	6	42832626	42832627	+	Frame_Shift_Ins	INS	-	-	A	rs139801339		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:42832626_42832627insA	ENST00000314073.5	+	13	2858_2859	c.2682_2683insA	c.(2683-2685)aaafs	p.K895fs	GLTSCR1L_ENST00000394168.1_Frame_Shift_Ins_p.K895fs			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	895																	GAAACATTTCTAAAAAAACAGA	0.49																																						ENST00000314073.5																			0											c.(2680-2685)tcaaaafs		GLTSCR1-like																																				SO:0001589	frameshift_variant	23506							g.chr6:42832626_42832627insA	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.2689dupA	6.37:g.42832633_42832633dupA	ENSP00000313933:p.Lys895fs					GLTSCR1L_ENST00000394168.1_Frame_Shift_Ins_p.SK894fs	p.SK894fs							13	2858_2859	+								A1L3W2|Q5TFZ3|Q92514	Frame_Shift_Ins	INS	ENST00000314073.5	37	c.2682_2683insA	CCDS34451.1																																																																																				0.490	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		11	65						11	65	---	---	---	---
SH3BGRL2	83699	broad.mit.edu	37	6	80406213	80406213	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:80406213delT	ENST00000369838.4	+	3	422	c.243delT	c.(241-243)agtfs	p.S81fs		NM_031469.2	NP_113657.1	Q9UJC5	SH3L2_HUMAN	SH3 domain binding glutamate-rich protein like 2	81						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				large_intestine(2)|lung(3)	5		all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174)		BRCA - Breast invasive adenocarcinoma(397;0.0278)		ATTATGACAGTTTTTTTGAAT	0.313																																						ENST00000369838.4																			0				large_intestine(2)|lung(3)	5						c.(241-243)agfs		SH3 domain binding glutamic acid-rich protein like 2							143.0	133.0	136.0					6																	80406213		2203	4300	6503	SO:0001589	frameshift_variant	83699					nucleus	SH3 domain binding	g.chr6:80406213delT	AJ297972	CCDS4991.1	6q14.1	2014-02-19	2014-02-19		ENSG00000198478	ENSG00000198478			15567	protein-coding gene	gene with protein product		615678	"""SH3 domain binding glutamic acid-rich protein like 2"""			12095696	Standard	NM_031469		Approved		uc003piz.1	Q9UJC5	OTTHUMG00000015081	ENST00000369838.4:c.243delT	6.37:g.80406213delT	ENSP00000358853:p.Ser81fs						p.S81fs	NM_031469.2	NP_113657.1	Q9UJC5	SH3L2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0278)	3	422	+		all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174)	81					A8MQU2|Q2VPC2|Q5VV96|Q6NSK8|Q6P9E8|Q7Z734|Q8IWD3|Q9BPY5	Frame_Shift_Del	DEL	ENST00000369838.4	37	c.243delT	CCDS4991.1																																																																																				0.313	SH3BGRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041309.1			67	113						67	113	---	---	---	---
MCHR2	84539	broad.mit.edu	37	6	100382358	100382358	+	Frame_Shift_Del	DEL	A	A	-	rs200957067		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:100382358delA	ENST00000281806.2	-	5	937	c.623delT	c.(622-624)ttcfs	p.F208fs	MCHR2_ENST00000369212.2_Frame_Shift_Del_p.F208fs	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.F208fs*5(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GGGTAGAGGGAAAAAAAAAGT	0.343																																						ENST00000281806.2																			1	Deletion - Frameshift(1)	p.F208fs*5(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39						c.(622-624)tcfs		melanin-concentrating hormone receptor 2			,	6,4258		0,6,2126	84.0	84.0	84.0		,	2.9	1.0	6		86	2,8246		0,2,4122	no	frameshift,frameshift	MCHR2	NM_032503.2,NM_001040179.1	,	0,8,6248	A1A1,A1R,RR		0.0242,0.1407,0.0639	,	,	100382358	8,12504	2203	4297	6500	SO:0001589	frameshift_variant	84539					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:100382358delA	AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.623delT	6.37:g.100382358delA	ENSP00000281806:p.Phe208fs					MCHR2_ENST00000445970.1_Frame_Shift_Del_p.F208fs|MCHR2_ENST00000369212.1_Frame_Shift_Del_p.F208fs	p.F208fs	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	5	937	-		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)	208					B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Frame_Shift_Del	DEL	ENST00000281806.2	37	c.623delT	CCDS5044.1																																																																																				0.343	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503		71	123						71	123	---	---	---	---
BEND3	57673	broad.mit.edu	37	6	107389947	107389947	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:107389947delT	ENST00000369042.1	-	4	2638	c.2448delA	c.(2446-2448)aaafs	p.K816fs	BEND3_ENST00000429433.2_Frame_Shift_Del_p.K816fs			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	816	BEN 4. {ECO:0000255|PROSITE- ProRule:PRU00784}.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GGATGTCGCATTTTTTCCTGT	0.577																																						ENST00000429433.2																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						c.(2446-2448)aafs		BEN domain containing 3							59.0	61.0	60.0					6																	107389947		2203	4299	6502	SO:0001589	frameshift_variant	57673							g.chr6:107389947delT	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"""BEN domain containing"""	23040	protein-coding gene	gene with protein product			"""KIAA1553"""	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.2448delA	6.37:g.107389947delT	ENSP00000358038:p.Lys816fs					BEND3_ENST00000369042.1_Frame_Shift_Del_p.K816fs	p.K816fs	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN			5	3097	-			816			BEN 4.		A2RRH2|Q9HCL9	Frame_Shift_Del	DEL	ENST00000369042.1	37	c.2448delA	CCDS34507.1																																																																																				0.577	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	NM_020913		57	75						57	75	---	---	---	---
SCML4	256380	broad.mit.edu	37	6	108076790	108076791	+	Intron	INS	-	-	G	rs75302347|rs200943253	byFrequency	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:108076790_108076791insG	ENST00000369020.3	-	3	402				SCML4_ENST00000369022.2_Intron|SCML4_ENST00000369021.3_Frame_Shift_Ins_p.P18fs	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		TCCAGTGGAATGGGGGGGTTCT	0.48													GGGGGGG|GGGGGGG|GGGGGGGG|insertion	111	0.0221645	0.0257	0.0	5008	,	,		15044	0.0625		0.004	False		,,,				2504	0.0102					ENST00000369021.3																			0				endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25						c.(52-54)cttfs		sex comb on midleg-like 4 (Drosophila)				79,4185		1,77,2054						-2.1	0.0		dbSNP_131	103	17,8237		0,17,4110	no	intron	SCML4	NM_198081.3		1,94,6164	A1A1,A1R,RR		0.206,1.8527,0.7669				96,12422				SO:0001627	intron_variant	256380				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:108076790_108076791insG		CCDS5060.2, CCDS69163.1, CCDS75500.1	6q21	2013-01-10			ENSG00000146285	ENSG00000146285		"""Sterile alpha motif (SAM) domain containing"""	21397	protein-coding gene	gene with protein product							Standard	NM_001286409		Approved	dJ47M23.1	uc010kdf.3	Q8N228	OTTHUMG00000015313	ENST00000369020.3:c.157-5773->C	6.37:g.108076797_108076797dupG						SCML4_ENST00000369020.3_Intron|SCML4_ENST00000369022.2_Intron	p.L18fs			Q8N228	SCML4_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)	1	52_53	-		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)	50					B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Frame_Shift_Ins	INS	ENST00000369020.3	37	c.53_54insC	CCDS5060.2																																																																																				0.480	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041700.3	XM_171128		23	115						23	115	---	---	---	---
RPF2	84154	broad.mit.edu	37	6	111329324	111329324	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:111329324delA	ENST00000441448.2	+	7	569	c.477delA	c.(475-477)ctafs	p.L159fs	RNU6-906P_ENST00000384700.1_RNA	NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	159	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.L159_S161del(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						ATAGAAGACTAAAAAGTCTTC	0.353																																						ENST00000441448.2																			1	Deletion - In frame(1)	p.L159_S161del(1)	ovary(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						c.(475-477)ctfs		ribosome production factor 2 homolog (S. cerevisiae)							61.0	66.0	64.0					6																	111329324		2203	4300	6503	SO:0001589	frameshift_variant	84154					nucleolus	protein binding	g.chr6:111329324delA	AK024740	CCDS5088.1	6q21	2009-09-25	2009-09-25	2009-09-25	ENSG00000197498	ENSG00000197498			20870	protein-coding gene	gene with protein product	"""ribosomal processing factor 2 homolog (S. cerevisiae)"""		"""brix domain containing 1"""	BXDC1		12048200	Standard	NM_032194		Approved	FLJ21087, bA397G5.4	uc003pun.3	Q9H7B2	OTTHUMG00000015368	ENST00000441448.2:c.477delA	6.37:g.111329324delA	ENSP00000402338:p.Leu159fs						p.L159fs	NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN			7	569	+			159			Brix.		Q5VXN1|Q8N4A1	Frame_Shift_Del	DEL	ENST00000441448.2	37	c.477delA	CCDS5088.1																																																																																				0.353	RPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041813.2	NM_032194		22	95						22	95	---	---	---	---
GOPC	57120	broad.mit.edu	37	6	117884426	117884426	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:117884426delT	ENST00000368498.2	-	9	1455	c.1380delA	c.(1378-1380)aaafs	p.K460fs	DCBLD1_ENST00000296955.8_Intron|GOPC_ENST00000467125.1_Intron|GOPC_ENST00000535237.1_Frame_Shift_Del_p.K460fs|GOPC_ENST00000052569.6_Frame_Shift_Del_p.K452fs	NM_020399.3	NP_065132.1	Q9HD26	GOPC_HUMAN	golgi-associated PDZ and coiled-coil motif containing	460					apical protein localization (GO:0045176)|cytoplasmic sequestering of CFTR protein (GO:0043004)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane transport (GO:0006893)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|spermatid nucleus differentiation (GO:0007289)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|trans-Golgi network transport vesicle (GO:0030140)	ion channel binding (GO:0044325)|small GTPase regulator activity (GO:0005083)		GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		TTTAATAAGATTTTTTATGAT	0.408			O	ROS1	glioblastoma																																	ENST00000535237.1				Dom	yes		6	6q21	57120	O	golgi associated PDZ and coiled-coil motif containing			O	ROS1		glioblastoma	GOPC/ROS1(14)	0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						c.(1378-1380)aafs		golgi-associated PDZ and coiled-coil motif containing							112.0	111.0	112.0					6																	117884426		2203	4300	6503	SO:0001589	frameshift_variant	57120							g.chr6:117884426delT	AF287894	CCDS5117.1, CCDS34523.1	6q21	2010-02-12	2010-02-12		ENSG00000047932	ENSG00000047932			17643	protein-coding gene	gene with protein product		606845				11162552, 11520064	Standard	NM_020399		Approved	dJ94G16.2, PIST, FIG, GOPC1, CAL		Q9HD26	OTTHUMG00000015457	ENST00000368498.2:c.1380delA	6.37:g.117884426delT	ENSP00000357484:p.Lys460fs					GOPC_ENST00000368498.2_Frame_Shift_Del_p.K460fs|GOPC_ENST00000052569.6_Frame_Shift_Del_p.K452fs|GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000296955.8_Intron	p.K460fs						GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)	9	1609	-		all_cancers(87;0.00844)|all_epithelial(87;0.0242)						A6NM30|Q59FS4|Q969U8	Frame_Shift_Del	DEL	ENST00000368498.2	37	c.1380delA	CCDS5117.1																																																																																				0.408	GOPC-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041988.1	NM_020399		36	126						36	126	---	---	---	---
TRDN	10345	broad.mit.edu	37	6	123786032	123786033	+	Intron	INS	-	-	A	rs201431159		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:123786032_123786033insA	ENST00000398178.3	-	10	953				RP11-532N4.2_ENST00000587106.2_RNA|TRDN_ENST00000334268.4_Intron|RP11-532N4.2_ENST00000434768.1_RNA|TRDN_ENST00000546248.1_Frame_Shift_Ins_p.S297fs|RP11-532N4.2_ENST00000418467.2_RNA|RP11-532N4.2_ENST00000589182.1_RNA|RP11-532N4.2_ENST00000587049.1_RNA|RP11-532N4.2_ENST00000427828.1_RNA	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin						cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		AGATCTTTAAGAAAAAAAAAAG	0.386																																						ENST00000546248.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41						c.(889-891)ttafs		triadin																																				SO:0001627	intron_variant	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123786032_123786033insA	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.931+17->T	6.37:g.123786042_123786042dupA						RP11-532N4.2_ENST00000418467.2_RNA|RP11-532N4.2_ENST00000427828.1_RNA|TRDN_ENST00000334268.4_Intron|TRDN_ENST00000398178.3_Intron|RP11-532N4.2_ENST00000589182.1_RNA|RP11-532N4.2_ENST00000587106.1_RNA|RP11-532N4.2_ENST00000434768.1_RNA	p.L297fs	NM_001256020.1	NP_001242949.1	Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	9	1022_1023	-			0					A5D6W5|F5H2W7|Q6NSB8	Frame_Shift_Ins	INS	ENST00000398178.3	37	c.889_890insT	CCDS55053.1																																																																																				0.386	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				3	5						3	5	---	---	---	---
CASD1	64921	broad.mit.edu	37	7	94185016	94185017	+	Frame_Shift_Ins	INS	-	-	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:94185016_94185017insT	ENST00000297273.4	+	18	2627_2628	c.2340_2341insT	c.(2341-2343)tttfs	p.F781fs		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	781						integral component of membrane (GO:0016021)				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GTATAGCTGCATTTTTTTGTGG	0.342																																						ENST00000297273.4																			0				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(2338-2343)gcttttfs		CAS1 domain containing 1																																				SO:0001589	frameshift_variant	64921					integral to membrane		g.chr7:94185016_94185017insT	AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 12"""	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.2347dupT	7.37:g.94185023_94185023dupT	ENSP00000297273:p.Phe781fs						p.AF780fs	NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		18	2627_2628	+	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		780					B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Frame_Shift_Ins	INS	ENST00000297273.4	37	c.2340_2341insT	CCDS5636.1																																																																																				0.342	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1	NM_022900		12	86						12	86	---	---	---	---
CBLL1	79872	broad.mit.edu	37	7	107399402	107399402	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:107399402delC	ENST00000440859.3	+	6	1722	c.1255delC	c.(1255-1257)cccfs	p.P421fs	CBLL1_ENST00000222597.2_Frame_Shift_Del_p.P420fs	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	421	Pro-rich.				negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						TGTAACTGCACCCCCTCCTCA	0.517																																						ENST00000440859.2																			0				endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						c.(1255-1257)ccfs		Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase							191.0	173.0	179.0					7																	107399402		2203	4300	6503	SO:0001589	frameshift_variant	79872				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:107399402delC	AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"""RING-type (C3HC4) zinc fingers"""	21225	protein-coding gene	gene with protein product	"""Casitas B-lineage lymphoma-like"""	606872	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"""			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.1255delC	7.37:g.107399402delC	ENSP00000401277:p.Pro421fs					CBLL1_ENST00000222597.2_Frame_Shift_Del_p.P420fs	p.P421fs	NM_024814.2	NP_079090.2	Q75N03	HAKAI_HUMAN			6	1722	+			421			Pro-rich.		B7ZM03|Q8TAJ4|Q9H5S6	Frame_Shift_Del	DEL	ENST00000440859.3	37	c.1255delC	CCDS5747.1																																																																																				0.517	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337156.2	NM_024814		37	82						37	82	---	---	---	---
KDM7A	80853	broad.mit.edu	37	7	139833448	139833448	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:139833448delT	ENST00000397560.2	-	3	386	c.289delA	c.(289-291)aggfs	p.R98fs	JHDM1D_ENST00000006967.5_Frame_Shift_Del_p.R98fs	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		98	Linker.				histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					CAGTTCCTCCTTTTTTTCACT	0.338																																						ENST00000397560.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22						c.(289-291)ggfs									114.0	103.0	106.0					7																	139833448		1818	4077	5895	SO:0001589	frameshift_variant	80853				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr7:139833448delT																												ENST00000397560.2:c.289delA	7.37:g.139833448delT	ENSP00000380692:p.Arg98fs					JHDM1D_ENST00000006967.5_Frame_Shift_Del_p.R98fs	p.R98fs	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN			3	386	-	Melanoma(164;0.0142)		98			Linker.		A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Frame_Shift_Del	DEL	ENST00000397560.2	37	c.289delA	CCDS43658.1																																																																																				0.338	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			20	73						20	73	---	---	---	---
OR6V1	346517	broad.mit.edu	37	7	142749550	142749551	+	Frame_Shift_Ins	INS	-	-	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:142749550_142749551insG	ENST00000418316.1	+	1	134_135	c.113_114insG	c.(112-117)atgggafs	p.MG38fs		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	38						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					CTCGCCTTCATGGGAAACACCA	0.5																																						ENST00000418316.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(112-114)aggfs		olfactory receptor, family 6, subfamily V, member 1																																				SO:0001589	frameshift_variant	346517				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142749550_142749551insG		CCDS47728.1	7q34	2014-05-06			ENSG00000225781	ENSG00000225781		"""GPCR / Class A : Olfactory receptors"""	15090	protein-coding gene	gene with protein product						12732197	Standard	NM_001001667		Approved	GPR138	uc011ksv.2	Q8N148	OTTHUMG00000158385	ENST00000418316.1:c.116dupG	7.37:g.142749553_142749553dupG	ENSP00000396085:p.Met38fs						p.R38fs	NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN			1	134_135	+	Melanoma(164;0.059)		38					A4D2I0|B9EH48|Q6IF70	Frame_Shift_Ins	INS	ENST00000418316.1	37	c.113_114insG	CCDS47728.1																																																																																				0.500	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350860.1			55	169						55	169	---	---	---	---
XKR5	389610	broad.mit.edu	37	8	6673270	6673270	+	RNA	DEL	A	A	-	rs532596157		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:6673270delA	ENST00000518724.1	-	0	1071							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		AGCCCATTGTAAAAAAAAAAA	0.502											OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000518724.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3								XK, Kell blood group complex subunit-related family, member 5																																						389610					integral to membrane		g.chr8:6673270delA	AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 5"""				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6673270delA			OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	635					Q6UX68	XKR5_HUMAN	STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)	0	1071	-								Q5GH74	RNA	DEL	ENST00000518724.1	37																																																																																						0.502	XKR5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000331969.2	NM_207411		3	5						3	5	---	---	---	---
DMTN	2039	broad.mit.edu	37	8	21926551	21926552	+	Frame_Shift_Ins	INS	-	-	C	rs377647942		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:21926551_21926552insC	ENST00000523266.1	+	5	736_737	c.274_275insC	c.(274-276)tccfs	p.S92fs	DMTN_ENST00000517600.1_Intron|DMTN_ENST00000381470.3_Frame_Shift_Ins_p.S92fs|DMTN_ENST00000358242.3_Frame_Shift_Ins_p.S92fs|DMTN_ENST00000523782.2_Frame_Shift_Ins_p.S67fs|DMTN_ENST00000415253.1_Frame_Shift_Ins_p.S92fs|DMTN_ENST00000443491.2_Frame_Shift_Ins_p.S67fs|DMTN_ENST00000265800.5_Frame_Shift_Ins_p.S92fs|DMTN_ENST00000432128.1_Frame_Shift_Ins_p.S92fs|DMTN_ENST00000519907.1_Frame_Shift_Ins_p.S92fs	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	92					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|actin filament capping (GO:0051693)|actin filament reorganization (GO:0090527)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cytoskeleton organization (GO:0007010)|erythrocyte development (GO:0048821)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of platelet aggregation (GO:1901731)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of wound healing (GO:0090303)|protein complex assembly (GO:0006461)|protein secretion by platelet (GO:0070560)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)|regulation of lamellipodium assembly (GO:0010591)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection membrane (GO:0031253)|cortical cytoskeleton (GO:0030863)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|protein self-association (GO:0043621)|receptor binding (GO:0005102)|spectrin binding (GO:0030507)										CAAATCCACATCCCCCCCACCA	0.604																																						ENST00000358242.3																			0											c.(274-276)cccfs		dematin actin binding protein																																				SO:0001589	frameshift_variant	2039							g.chr8:21926551_21926552insC	U28389	CCDS6020.1, CCDS47820.1, CCDS47821.1	8p21.1	2013-05-03	2013-05-03	2013-05-03	ENSG00000158856	ENSG00000158856			3382	protein-coding gene	gene with protein product		125305	"""erythrocyte membrane protein band 4.9 (dematin)"""	EPB49		8341682, 12011427	Standard	NM_001978		Approved	DMT		Q08495	OTTHUMG00000097087	ENST00000523266.1:c.281dupC	8.37:g.21926558_21926558dupC	ENSP00000427866:p.Ser92fs					DMTN_ENST00000517600.1_Intron|DMTN_ENST00000381470.3_Frame_Shift_Ins_p.P92fs|DMTN_ENST00000523782.2_Frame_Shift_Ins_p.P67fs|DMTN_ENST00000523266.1_Frame_Shift_Ins_p.P92fs|DMTN_ENST00000519907.1_Frame_Shift_Ins_p.P92fs|DMTN_ENST00000265800.5_Frame_Shift_Ins_p.P92fs|DMTN_ENST00000443491.2_Frame_Shift_Ins_p.P67fs|DMTN_ENST00000432128.1_Frame_Shift_Ins_p.P92fs|DMTN_ENST00000415253.1_Frame_Shift_Ins_p.P92fs	p.P92fs							5	767_768	+								A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	Frame_Shift_Ins	INS	ENST00000523266.1	37	c.274_275insC	CCDS6020.1																																																																																				0.604	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375178.1	NM_001978		12	90						12	90	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55538415	55538416	+	Frame_Shift_Ins	INS	-	-	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:55538415_55538416insA	ENST00000220676.1	+	4	2121_2122	c.1973_1974insA	c.(1972-1977)ccaaaafs	p.PK658fs		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	658					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACAAAACTTCCAAAAAATGAAA	0.366																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(1972-1974)caafs		retinitis pigmentosa 1 (autosomal dominant)																																				SO:0001589	frameshift_variant	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55538415_55538416insA	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.1979dupA	8.37:g.55538421_55538421dupA	ENSP00000220676:p.Pro658fs						p.Q658fs	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	2121_2122	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	658						Frame_Shift_Ins	INS	ENST00000220676.1	37	c.1973_1974insA	CCDS6160.1																																																																																				0.366	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		14	82						14	82	---	---	---	---
RP11-941H19.3	0	broad.mit.edu	37	8	81213788	81213788	+	lincRNA	DEL	C	C	-	rs565496962|rs71266069	byFrequency	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:81213788delC	ENST00000522044.1	+	0	404																											CCCCCCACCACcacacacaca	0.552																																						ENST00000522044.1																			0																																																			0							g.chr8:81213788delC																													8.37:g.81213788delC														0	404	+									RNA	DEL	ENST00000522044.1	37																																																																																						0.552	RP11-941H19.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000379180.1			4	5						4	5	---	---	---	---
TBC1D31	93594	broad.mit.edu	37	8	124140520	124140521	+	Splice_Site	INS	-	-	T	rs570441854		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:124140520_124140521insT	ENST00000287380.1	+	14	1974_1975		c.e14-1		TBC1D31_ENST00000521676.1_Splice_Site|TBC1D31_ENST00000378080.2_Splice_Site|TBC1D31_ENST00000522420.1_Splice_Site|TBC1D31_ENST00000327098.5_Splice_Site|TBC1D31_ENST00000309336.3_Splice_Site|TBC1D31_ENST00000518805.1_Intron	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31							centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										TTTTCTTACAGTTTTTTTTTCA	0.322																																						ENST00000287380.1																			0											c.e14-1		TBC1 domain family, member 31			,	6,4258		0,6,2126					,	5.7	1.0			76	8,8246		0,8,4119	no	frameshift-near-splice,frameshift-near-splice	WDR67	NM_145647.3,NM_001145088.1	,	0,14,6245	A1A1,A1R,RR		0.0969,0.1407,0.1118	,	,		14,12504				SO:0001630	splice_region_variant	93594							g.chr8:124140520_124140521insT	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.1885-1->T	8.37:g.124140529_124140529dupT						TBC1D31_ENST00000378080.2_Splice_Site|TBC1D31_ENST00000309336.3_Splice_Site|TBC1D31_ENST00000522420.1_Splice_Site|TBC1D31_ENST00000521676.1_Splice_Site|TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000327098.5_Splice_Site		NM_145647.3	NP_663622.2					14	1974_1975	+								B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Splice_Site	INS	ENST00000287380.1	37		CCDS6338.1																																																																																				0.322	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647	Intron	9	150						9	150	---	---	---	---
SH3GL2	6456	broad.mit.edu	37	9	17793391	17793392	+	Frame_Shift_Ins	INS	-	-	A	rs200486111		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:17793391_17793392insA	ENST00000380607.4	+	8	875_876	c.755_756insA	c.(754-759)agaaggfs	p.R253fs	SH3GL2_ENST00000537391.1_Frame_Shift_Ins_p.R206fs	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	253					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of receptor internalization (GO:0002090)|signal transduction (GO:0007165)|synaptic vesicle endocytosis (GO:0048488)	clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		TCTCAGCCTAGAAGGGAATATC	0.426																																						ENST00000380607.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26						c.(754-756)aagfs		SH3-domain GRB2-like 2																																				SO:0001589	frameshift_variant	6456				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding	g.chr9:17793391_17793392insA	X99657	CCDS6483.1	9p22	2008-02-05			ENSG00000107295	ENSG00000107295			10831	protein-coding gene	gene with protein product		604465				9169142	Standard	XM_005251549		Approved	SH3P4, SH3D2A, CNSA2, EEN-B1	uc003zna.3	Q99962	OTTHUMG00000019601	ENST00000380607.4:c.757dupA	9.37:g.17793393_17793393dupA	ENSP00000369981:p.Arg253fs					SH3GL2_ENST00000537391.1_Frame_Shift_Ins_p.K205fs	p.K252fs	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN		GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)	8	875_876	+			252					B2R618|Q9NQK5	Frame_Shift_Ins	INS	ENST00000380607.4	37	c.755_756insA	CCDS6483.1																																																																																				0.426	SH3GL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051796.1	NM_003026		26	32						26	32	---	---	---	---
CNTRL	11064	broad.mit.edu	37	9	123917020	123917021	+	Frame_Shift_Del	DEL	TG	TG	-	rs3736855	byFrequency	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:123917020_123917021delTG	ENST00000373855.1	+	27	4454_4455	c.4194_4195delTG	c.(4192-4197)gttgagfs	p.E1399fs	CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000238341.5_Frame_Shift_Del_p.E1399fs|CNTRL_ENST00000373847.1_Frame_Shift_Del_p.E847fs|CNTRL_ENST00000373850.1_Frame_Shift_Del_p.E847fs			Q7Z7A1	CNTRL_HUMAN	centriolin	1399					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						ATGGAAATGTTGAGAGTCTTAT	0.307																																						ENST00000373855.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(4192-4197)gtagfs		centriolin																																				SO:0001589	frameshift_variant	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123917020_123917021delTG	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.4194_4195delTG	9.37:g.123917020_123917021delTG	ENSP00000362962:p.Glu1399fs					CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373850.1_Frame_Shift_Del_p.VE846fs|CNTRL_ENST00000238341.5_Frame_Shift_Del_p.VE1398fs|CNTRL_ENST00000373847.1_Frame_Shift_Del_p.VE846fs	p.VE1398fs			Q7Z7A1	CNTRL_HUMAN			27	4454_4455	+			1398					A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Frame_Shift_Del	DEL	ENST00000373855.1	37	c.4194_4195delTG	CCDS35118.1																																																																																				0.307	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		22	8						22	8	---	---	---	---
RAPGEF1	2889	broad.mit.edu	37	9	134504527	134504527	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:134504527delG	ENST00000372189.3	-	7	927	c.804delC	c.(802-804)cccfs	p.P268fs	RAPGEF1_ENST00000372190.3_Frame_Shift_Del_p.P286fs|RAPGEF1_ENST00000481260.1_5'UTR|RAPGEF1_ENST00000372195.1_Frame_Shift_Del_p.P285fs	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	268					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GAGGAGGCTTGGGGGGCGCGA	0.537																																						ENST00000372195.1																			0				NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(853-855)ccfs		Rap guanine nucleotide exchange factor (GEF) 1							73.0	79.0	77.0					9																	134504527		1931	4121	6052	SO:0001589	frameshift_variant	2889				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr9:134504527delG	BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.804delC	9.37:g.134504527delG	ENSP00000361263:p.Pro268fs					RAPGEF1_ENST00000372189.3_Frame_Shift_Del_p.P268fs|RAPGEF1_ENST00000481260.1_5'UTR|RAPGEF1_ENST00000372190.3_Frame_Shift_Del_p.P286fs	p.P285fs			Q13905	RPGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)	7	1098	-		Myeloproliferative disorder(178;0.204)	268					Q5JUE4|Q8IV73	Frame_Shift_Del	DEL	ENST00000372189.3	37	c.855delC	CCDS48047.1																																																																																				0.537	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312		18	45						18	45	---	---	---	---
ITGB1	3688	broad.mit.edu	37	10	33208969	33208969	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:33208969delT	ENST00000396033.2	-	11	1448	c.1313delA	c.(1312-1314)aagfs	p.K438fs	ITGB1_ENST00000374956.4_Frame_Shift_Del_p.K438fs|ITGB1_ENST00000302278.3_Frame_Shift_Del_p.K438fs|ITGB1_ENST00000423113.1_Frame_Shift_Del_p.K438fs	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	438					axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	GTCAGAATCCTTTTTTGGACA	0.338																																						ENST00000396033.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1312-1314)agfs		integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)							122.0	130.0	128.0					10																	33208969		2203	4300	6503	SO:0001589	frameshift_variant	3688				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	g.chr10:33208969delT	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.1313delA	10.37:g.33208969delT	ENSP00000379350:p.Lys438fs					ITGB1_ENST00000302278.3_Frame_Shift_Del_p.K438fs|ITGB1_ENST00000374956.4_Frame_Shift_Del_p.K438fs|ITGB1_ENST00000423113.1_Frame_Shift_Del_p.K438fs	p.K438fs	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN			11	1448	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	438					A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Frame_Shift_Del	DEL	ENST00000396033.2	37	c.1313delA	CCDS7174.1																																																																																				0.338	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		81	257						81	257	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55566748	55566749	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:55566748_55566749delAT	ENST00000373965.2	-	36	5039_5040	c.4645_4646delAT	c.(4645-4647)attfs	p.I1549fs	PCDH15_ENST00000414778.1_Frame_Shift_Del_p.I1546fs	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATTCTGTGCAATATATATATTG	0.47										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4645-4647)tfs		protocadherin-related 15																																				SO:0001589	frameshift_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55566748_55566749delAT	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000373965.2:c.4645_4646delAT	10.37:g.55566756_55566757delAT	ENSP00000363076:p.Ile1549fs	HNSCC(58;0.16)				PCDH15_ENST00000414778.1_Frame_Shift_Del_p.I1546fs	p.I1549fs	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			36	5039_5040	-		Melanoma(3;0.117)|Lung SC(717;0.238)	0					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Frame_Shift_Del	DEL	ENST00000373965.2	37	c.4645_4646delAT																																																																																					0.470	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291336.1	NM_033056		38	21						38	21	---	---	---	---
USP54	159195	broad.mit.edu	37	10	75299343	75299344	+	Frame_Shift_Ins	INS	-	-	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:75299343_75299344insA	ENST00000339859.4	-	9	933_934	c.833_834insT	c.(832-834)ttcfs	p.F278fs	USP54_ENST00000497106.1_5'UTR|USP54_ENST00000408019.1_Frame_Shift_Ins_p.F278fs|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000319786.7_Frame_Shift_Ins_p.F278fs|USP54_ENST00000428547.1_Frame_Shift_Ins_p.F128fs			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	278	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					CCGTCACTCTGAAAAACAGCTG	0.401																																					Colon(195;880 2046 8854 25025 38456)	ENST00000339859.4																			0				breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30						c.(832-834)tagfs		ubiquitin specific peptidase 54																																				SO:0001589	frameshift_variant	159195				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	g.chr10:75299343_75299344insA	AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.834dupT	10.37:g.75299348_75299348dupA	ENSP00000345216:p.Phe278fs					USP54_ENST00000319786.7_Frame_Shift_Ins_p.*278fs|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000408019.1_Frame_Shift_Ins_p.*278fs|USP54_ENST00000428547.1_Frame_Shift_Ins_p.*128fs|USP54_ENST00000497106.1_5'UTR	p.*278fs			Q70EL1	UBP54_HUMAN			9	933_934	-	Prostate(51;0.0112)		278					A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Frame_Shift_Ins	INS	ENST00000339859.4	37	c.833_834insT	CCDS7329.2																																																																																				0.401	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		30	34						30	34	---	---	---	---
PSD	5662	broad.mit.edu	37	10	104174659	104174661	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:104174659_104174661delTCT	ENST00000020673.5	-	4	1609_1611	c.1083_1085delAGA	c.(1081-1086)gaagat>gat	p.E361del	PSD_ENST00000406432.1_In_Frame_Del_p.E361del|PSD_ENST00000492902.2_5'Flank	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	361					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GTCGTCCACATCTTCTTCCCCAC	0.66																																						ENST00000020673.5																			0				breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1081-1086)gat>ga		pleckstrin and Sec7 domain containing																																				SO:0001651	inframe_deletion	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104174659_104174661delTCT	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.1083_1085delAGA	10.37:g.104174662_104174664delTCT	ENSP00000020673:p.Glu361del					PSD_ENST00000406432.1_In_Frame_Del_p.ED361del	p.ED361del	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	4	1609_1611	-			361					B1AKX7|D3DR87|Q15673|Q8IVG0	In_Frame_Del	DEL	ENST00000020673.5	37	c.1083_1085delAGA	CCDS31272.1																																																																																				0.660	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			43	12						43	12	---	---	---	---
INPP5F	22876	broad.mit.edu	37	10	121556338	121556339	+	Frame_Shift_Ins	INS	-	-	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:121556338_121556339insC	ENST00000361976.2	+	7	947_948	c.781_782insC	c.(781-783)accfs	p.T261fs	INPP5F_ENST00000369083.3_Frame_Shift_Ins_p.T261fs	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0	5-phosphatase.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CAGCCCAGAGACCCCCCCTCAG	0.48																																						ENST00000361976.2																			0				breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(781-783)cccfs		inositol polyphosphate-5-phosphatase F				4,4260		0,4,2128						5.8	1.0			82	0,8254		0,0,4127	no	frameshift	INPP5F	NM_014937.3		0,4,6255	A1A1,A1R,RR		0.0,0.0938,0.032				4,12514				SO:0001589	frameshift_variant	22876						phosphoric ester hydrolase activity	g.chr10:121556338_121556339insC	AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.788dupC	10.37:g.121556345_121556345dupC	ENSP00000354519:p.Thr261fs					INPP5F_ENST00000369083.3_Frame_Shift_Ins_p.P261fs	p.P261fs	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)	7	947_948	+		Lung NSC(174;0.109)|all_lung(145;0.142)	261			SAC.		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Frame_Shift_Ins	INS	ENST00000361976.2	37	c.781_782insC	CCDS7616.1																																																																																				0.480	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1	NM_014937		10	58						10	58	---	---	---	---
KRTAP5-1	387264	broad.mit.edu	37	11	1605893	1605893	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:1605893delC	ENST00000382171.2	-	1	620	c.587delG	c.(586-588)ggtfs	p.G196fs	KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	196	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGAGCCACAACCCCCCTTGGA	0.672																																						ENST00000382171.2																			0				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16						c.(586-588)gtfs		keratin associated protein 5-1							43.0	55.0	51.0					11																	1605893		2201	4297	6498	SO:0001589	frameshift_variant	387264					keratin filament		g.chr11:1605893delC	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"""Keratin associated proteins"""	23596	protein-coding gene	gene with protein product		148022	"""keratin, cuticle, ultrahigh sulphur 1-like"""	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.587delG	11.37:g.1605893delC	ENSP00000371606:p.Gly196fs					KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	p.G196fs	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	620	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	196			8 X 4 AA repeats of C-C-X-P.			Frame_Shift_Del	DEL	ENST00000382171.2	37	c.587delG	CCDS31330.1																																																																																				0.672	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		15	162						15	162	---	---	---	---
CYB5R2	51700	broad.mit.edu	37	11	7690551	7690552	+	Frame_Shift_Ins	INS	-	-	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:7690551_7690552insT	ENST00000533558.1	-	5	828_829	c.272_273insA	c.(271-273)aatfs	p.N91fs	CYB5R2_ENST00000524790.1_Frame_Shift_Ins_p.N91fs|CYB5R2_ENST00000299498.6_Frame_Shift_Ins_p.N91fs|CYB5R2_ENST00000299497.9_Frame_Shift_Ins_p.N91fs|CYB5R2_ENST00000528585.1_5'Flank			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	91	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				oxidation-reduction process (GO:0055114)|sterol biosynthetic process (GO:0016126)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGGGGTGTACATTTTTGAAGTA	0.46																																						ENST00000533558.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						c.(271-273)agtfs		cytochrome b5 reductase 2																																				SO:0001589	frameshift_variant	51700				sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity	g.chr11:7690551_7690552insT	AF169802	CCDS7780.1	11p15.4	2014-08-12			ENSG00000166394	ENSG00000166394	1.6.2.2		24376	protein-coding gene	gene with protein product		608342				10611283	Standard	XM_005252973		Approved		uc001mfm.3	Q6BCY4	OTTHUMG00000165665	ENST00000533558.1:c.273dupA	11.37:g.7690556_7690556dupT	ENSP00000437041:p.Asn91fs					CYB5R2_ENST00000299497.9_Frame_Shift_Ins_p.S91fs|CYB5R2_ENST00000524790.1_Frame_Shift_Ins_p.S91fs|CYB5R2_ENST00000299498.6_Frame_Shift_Ins_p.S91fs	p.S91fs			Q6BCY4	NB5R2_HUMAN		Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	5	828_829	-			91			FAD-binding FR-type.		Q9BVA3|Q9UF68|Q9UHJ0	Frame_Shift_Ins	INS	ENST00000533558.1	37	c.272_273insA	CCDS7780.1																																																																																				0.460	CYB5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385679.1	NM_016229		24	162						24	162	---	---	---	---
TMEM41B	440026	broad.mit.edu	37	11	9304991	9304992	+	Frame_Shift_Ins	INS	-	-	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:9304991_9304992insT	ENST00000528080.1	-	7	1193_1194	c.855_856insA	c.(853-858)aaactafs	p.L286fs		NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B	286					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		TTCTGCTTTAGTTTTTTTTGGA	0.342																																						ENST00000528080.1																			0				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7						c.(853-858)aataaafs		transmembrane protein 41B																																				SO:0001589	frameshift_variant	440026					integral to membrane		g.chr11:9304991_9304992insT	D26067	CCDS31424.1, CCDS53600.1	11p15.3	2008-02-05			ENSG00000166471	ENSG00000166471			28948	protein-coding gene	gene with protein product						7584026, 7584028	Standard	NM_015012		Approved	KIAA0033	uc001mhn.2	Q5BJD5	OTTHUMG00000165719	ENST00000528080.1:c.856dupA	11.37:g.9304999_9304999dupT	ENSP00000433126:p.Leu286fs						p.NK285fs	NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN		all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)	7	1193_1194	-			285					D3DQU9|E9PP29|Q15055|Q4G0P0	Frame_Shift_Ins	INS	ENST00000528080.1	37	c.855_856insA	CCDS31424.1																																																																																				0.342	TMEM41B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385940.2			41	43						41	43	---	---	---	---
MPEG1	219972	broad.mit.edu	37	11	58978660	58978660	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:58978660delC	ENST00000361050.3	-	1	1764	c.1679delG	c.(1678-1680)ggcfs	p.G560fs		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	560						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				CTGGCTGAAGCCCCCGGGGCA	0.592																																						ENST00000361050.3																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1678-1680)gcfs		macrophage expressed 1							49.0	54.0	52.0					11																	58978660		1900	4117	6017	SO:0001589	frameshift_variant	219972					integral to membrane		g.chr11:58978660delC	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.1679delG	11.37:g.58978660delC	ENSP00000354335:p.Gly560fs						p.G560fs	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN			1	1764	-		all_epithelial(135;0.125)	560					Q2M1T6|Q8TEF8	Frame_Shift_Del	DEL	ENST00000361050.3	37	c.1679delG	CCDS41650.1																																																																																				0.592	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		31	66						31	66	---	---	---	---
MAP3K11	4296	broad.mit.edu	37	11	65375418	65375418	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:65375418delG	ENST00000530153.1	-	3	794	c.273delC	c.(271-273)cccfs	p.P91fs	MAP3K11_ENST00000534432.1_5'Flank|MAP3K11_ENST00000309100.3_Frame_Shift_Del_p.P348fs|MAP3K11_ENST00000532507.1_5'Flank					mitogen-activated protein kinase kinase kinase 11											breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						CGAAGGGCTCGGGGCAGGTGG	0.617																																						ENST00000309100.3																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						c.(1042-1044)ccfs		mitogen-activated protein kinase kinase kinase 11							63.0	48.0	53.0					11																	65375418		2201	4297	6498	SO:0001589	frameshift_variant	4296				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity	g.chr11:65375418delG		CCDS8107.1	11q13.1-q13.3	2011-06-09			ENSG00000173327	ENSG00000173327	2.7.10.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6850	protein-coding gene	gene with protein product		600050		MLK3, PTK1		9267807, 8183572	Standard	NM_002419		Approved	SPRK, MEKK11	uc001oew.3	Q16584	OTTHUMG00000166529	ENST00000530153.1:c.273delC	11.37:g.65375418delG	ENSP00000433886:p.Pro91fs					MAP3K11_ENST00000530153.1_Frame_Shift_Del_p.P91fs	p.P348fs	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN			3	1529	-			348			Protein kinase.			Frame_Shift_Del	DEL	ENST00000530153.1	37	c.1044delC																																																																																					0.617	MAP3K11-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000390233.2			7	25						7	25	---	---	---	---
SSH3	54961	broad.mit.edu	37	11	67077586	67077587	+	Frame_Shift_Ins	INS	-	-	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:67077586_67077587insA	ENST00000308127.4	+	13	1637_1638	c.1459_1460insA	c.(1459-1461)gagfs	p.E487fs	SSH3_ENST00000376757.5_Intron|SSH3_ENST00000308298.7_Intron	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	487					protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CTCCCCAGAGGAGCACCCAGCC	0.629																																						ENST00000308127.4																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1459-1461)gcafs		slingshot protein phosphatase 3																																				SO:0001589	frameshift_variant	54961				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:67077586_67077587insA	AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30581	protein-coding gene	gene with protein product		606780	"""slingshot homolog 3 (Drosophila)"""			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.1460dupA	11.37:g.67077587_67077587dupA	ENSP00000312081:p.Glu487fs					SSH3_ENST00000376757.5_Intron|SSH3_ENST00000308298.7_Intron	p.A487fs	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		13	1637_1638	+			487					Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Frame_Shift_Ins	INS	ENST00000308127.4	37	c.1459_1460insA	CCDS8157.1																																																																																				0.629	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1	NM_018276		37	61						37	61	---	---	---	---
MED17	9440	broad.mit.edu	37	11	93517824	93517825	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:93517824_93517825delTT	ENST00000251871.3	+	1	432_433	c.145_146delTT	c.(145-147)ttcfs	p.F49fs	MED17_ENST00000530819.1_Frame_Shift_Del_p.F49fs	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	49					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCGGATAGACTTCAGCCAGGGT	0.703																																						ENST00000251871.3																			0				large_intestine(2)|lung(11)|ovary(1)	14						c.(145-147)cfs		mediator complex subunit 17																																				SO:0001589	frameshift_variant	9440				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr11:93517824_93517825delTT	AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"""cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)"", ""cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"""	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.145_146delTT	11.37:g.93517824_93517825delTT	ENSP00000251871:p.Phe49fs					MED17_ENST00000530819.1_Frame_Shift_Del_p.F49fs	p.F49fs	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN			1	432_433	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	49					B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Frame_Shift_Del	DEL	ENST00000251871.3	37	c.145_146delTT	CCDS8295.1																																																																																				0.703	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394800.2	NM_004268		3	3						3	3	---	---	---	---
AMOTL1	154810	broad.mit.edu	37	11	94533350	94533351	+	Frame_Shift_Ins	INS	-	-	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:94533350_94533351insT	ENST00000433060.2	+	3	1135_1136	c.994_995insT	c.(994-996)cttfs	p.L332fs	AMOTL1_ENST00000317829.8_Frame_Shift_Ins_p.L282fs|AMOTL1_ENST00000317837.9_Frame_Shift_Ins_p.L332fs	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	332					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				GGAGCACGGACTTTTTTATGGT	0.589																																						ENST00000433060.2																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36						c.(994-996)tttfs		angiomotin like 1																																				SO:0001589	frameshift_variant	154810					cytoplasm|tight junction	identical protein binding	g.chr11:94533350_94533351insT	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.1000dupT	11.37:g.94533356_94533356dupT	ENSP00000387739:p.Leu332fs					AMOTL1_ENST00000317837.9_Frame_Shift_Ins_p.F332fs|AMOTL1_ENST00000317829.8_Frame_Shift_Ins_p.F282fs	p.F332fs	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN			3	1135_1136	+		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)	332					Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Frame_Shift_Ins	INS	ENST00000433060.2	37	c.994_995insT	CCDS44712.1																																																																																				0.589	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847		39	127						39	127	---	---	---	---
APOA4	337	broad.mit.edu	37	11	116692031	116692033	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:116692031_116692033delTTC	ENST00000357780.3	-	3	855_857	c.741_743delGAA	c.(739-744)aagaac>aac	p.K247del		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	247	13 X 22 AA approximate tandem repeats.				cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CTCCTCGGCGTTCTTCTTCATCT	0.655																																						ENST00000357780.3																			0				cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(739-744)aac>aa		apolipoprotein A-IV																																				SO:0001651	inframe_deletion	337							g.chr11:116692031_116692033delTTC		CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244		"""Apolipoproteins"""	602	protein-coding gene	gene with protein product		107690					Standard	NM_000482		Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.741_743delGAA	11.37:g.116692037_116692039delTTC	ENSP00000350425:p.Lys247del						p.KN247del	NM_000482.3	NP_000473.2				BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)	3	855_857	-	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)						A8MSL6|Q14CW8|Q6Q787	In_Frame_Del	DEL	ENST00000357780.3	37	c.741_743delGAA	CCDS31681.1																																																																																				0.655	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106279.2	NM_000482		38	64						38	64	---	---	---	---
OR8B4	283162	broad.mit.edu	37	11	124294014	124294015	+	Frame_Shift_Ins	INS	-	-	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:124294014_124294015insA	ENST00000356130.3	-	1	774_775	c.753_754insT	c.(751-756)tttgggfs	p.G252fs		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GTCCCTGACCCAAAAAACAGAG	0.45																																						ENST00000356130.3																			0				endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32						c.(751-756)ttggtcfs		olfactory receptor, family 8, subfamily B, member 4																																				SO:0001589	frameshift_variant	283162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124294014_124294015insA	AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"""GPCR / Class A : Olfactory receptors"""	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.754dupT	11.37:g.124294020_124294020dupA	ENSP00000348449:p.Gly252fs						p.LV251fs	NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	774_775	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	251					B2RNF8|Q6IFQ7	Frame_Shift_Ins	INS	ENST00000356130.3	37	c.753_754insT	CCDS31710.1																																																																																				0.450	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1	NM_001005196		30	11						30	11	---	---	---	---
RP11-885B4.1	0	broad.mit.edu	37	12	2851938	2851938	+	lincRNA	DEL	T	T	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:2851938delT	ENST00000540093.1	-	0	73																											AGTTGGTACCTTTTTGGGTGA	0.468																																						ENST00000540093.1																			0																																																			0							g.chr12:2851938delT																													12.37:g.2851938delT														0	73	-									RNA	DEL	ENST00000540093.1	37																																																																																						0.468	RP11-885B4.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000398349.1			3	6						3	6	---	---	---	---
PIANP	196500	broad.mit.edu	37	12	6806838	6806839	+	Frame_Shift_Ins	INS	-	-	G	rs185182940	byFrequency	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:6806838_6806839insG	ENST00000540656.1	-	3	475_476	c.137_138insC	c.(136-138)ccgfs	p.P46fs	PIANP_ENST00000534837.1_Frame_Shift_Ins_p.P46fs|PIANP_ENST00000320591.5_Frame_Shift_Ins_p.P46fs	NM_001244015.1	NP_001230944.1	Q8IYJ0	PIANP_HUMAN	PILR alpha associated neural protein	46						integral component of membrane (GO:0016021)											CCCTGGCACACGGGGGGCGGGC	0.693																																						ENST00000534837.1																			0											c.(136-138)ctgfs		PILR alpha associated neural protein																																				SO:0001589	frameshift_variant	196500							g.chr12:6806838_6806839insG	BC035736	CCDS44818.1, CCDS58205.1	12p13.31	2012-08-17	2012-08-17	2012-08-17	ENSG00000139200	ENSG00000139200			25338	protein-coding gene	gene with protein product	"""PILR-associating neural protein"""		"""chromosome 12 open reading frame 53"""	C12orf53		12975309	Standard	NM_153685		Approved	DKFZp547D2210, PANP	uc001qqf.2	Q8IYJ0	OTTHUMG00000168664	ENST00000540656.1:c.138dupC	12.37:g.6806844_6806844dupG	ENSP00000442157:p.Pro46fs					PIANP_ENST00000320591.5_Frame_Shift_Ins_p.L46fs|PIANP_ENST00000540656.1_Frame_Shift_Ins_p.L46fs	p.L46fs	NM_001244014.1	NP_001230943.1					3	366_367	-								A8K0T3|B3KPF7|B3KRI6|Q6UX35	Frame_Shift_Ins	INS	ENST00000540656.1	37	c.137_138insC	CCDS44818.1																																																																																				0.693	PIANP-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400524.1	NM_153685		3	4						3	4	---	---	---	---
KLHL42	57542	broad.mit.edu	37	12	27950769	27950769	+	Frame_Shift_Del	DEL	G	G	-	rs145908611	byFrequency	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:27950769delG	ENST00000381271.2	+	3	1499	c.1188delG	c.(1186-1188)gtgfs	p.V396fs	RP11-860B13.3_ENST00000543527.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	396					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											TCTACATCGTGGGGGGGTGTC	0.592																																						ENST00000381271.2																			0											c.(1186-1188)gtfs		kelch-like family member 42							102.0	99.0	100.0					12																	27950769		2203	4300	6503	SO:0001589	frameshift_variant	57542							g.chr12:27950769delG	AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"""Kelch-like"""	29252	protein-coding gene	gene with protein product			"""kelch domain containing 5"""	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.1188delG	12.37:g.27950769delG	ENSP00000370671:p.Val396fs						p.V396fs	NM_020782.1	NP_065833.1					3	1499	+								Q2VPK1|Q8N334	Frame_Shift_Del	DEL	ENST00000381271.2	37	c.1188delG	CCDS31763.1																																																																																				0.592	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1	NM_020782		48	206						48	206	---	---	---	---
NCKAP5L	57701	broad.mit.edu	37	12	50189460	50189461	+	Frame_Shift_Ins	INS	-	-	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:50189460_50189461insC	ENST00000335999.6	-	8	2383_2384	c.2182_2183insG	c.(2182-2184)gcafs	p.A728fs		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	724										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CAAGGCCACTGCCCCCCGTATC	0.653																																						ENST00000335999.6																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						c.(2182-2184)agtfs		NCK-associated protein 5-like																																				SO:0001589	frameshift_variant	57701							g.chr12:50189460_50189461insC	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.2183dupG	12.37:g.50189466_50189466dupC	ENSP00000337998:p.Ala728fs						p.S728fs	NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN			8	2383_2384	-			724					Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Frame_Shift_Ins	INS	ENST00000335999.6	37	c.2182_2183insG	CCDS41781.2																																																																																				0.653	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497		7	21						7	21	---	---	---	---
BEST3	144453	broad.mit.edu	37	12	70049362	70049362	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:70049362delG	ENST00000330891.5	-	10	1558	c.1332delC	c.(1330-1332)cccfs	p.P444fs	BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Frame_Shift_Del_p.P338fs|BEST3_ENST00000488961.1_Frame_Shift_Del_p.P231fs	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	444					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GTGAGGCCCTGGGGGGGTTTC	0.592																																						ENST00000330891.5																			0				cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12						c.(1330-1332)ccfs		bestrophin 3							76.0	78.0	78.0					12																	70049362		1929	4152	6081	SO:0001589	frameshift_variant	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70049362delG	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1332delC	12.37:g.70049362delG	ENSP00000332413:p.Pro444fs					BEST3_ENST00000488961.1_Frame_Shift_Del_p.P231fs|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Frame_Shift_Del_p.P338fs	p.P444fs	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		10	1558	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		444					B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Frame_Shift_Del	DEL	ENST00000330891.5	37	c.1332delC	CCDS8992.2																																																																																				0.592	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		46	70						46	70	---	---	---	---
KDM2B	84678	broad.mit.edu	37	12	121947745	121947747	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:121947745_121947747delCTC	ENST00000377071.4	-	11	1342_1344	c.1270_1272delGAG	c.(1270-1272)gagdel	p.E424del	KDM2B_ENST00000538046.2_In_Frame_Del_p.E334del|KDM2B_ENST00000536437.1_In_Frame_Del_p.E307del|KDM2B_ENST00000542973.1_5'Flank|KDM2B_ENST00000377069.4_In_Frame_Del_p.E393del	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	424	Glu-rich.				embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						cctcgtccttctcctcctcctcc	0.65																																						ENST00000377069.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(1177-1179)del		lysine (K)-specific demethylase 2B																																				SO:0001651	inframe_deletion	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121947745_121947747delCTC	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.1270_1272delGAG	12.37:g.121947754_121947756delCTC	ENSP00000366271:p.Glu424del					KDM2B_ENST00000538046.2_In_Frame_Del_p.E334del|KDM2B_ENST00000377071.4_In_Frame_Del_p.E424del|KDM2B_ENST00000536437.1_In_Frame_Del_p.E307del	p.E393del	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN			11	1583_1585	-			424					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	In_Frame_Del	DEL	ENST00000377071.4	37	c.1177_1179delGAG	CCDS41850.1																																																																																				0.650	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		16	35						16	35	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132522263	132522264	+	Frame_Shift_Ins	INS	-	-	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:132522263_132522264insA	ENST00000333577.4	+	32	6205_6206	c.6096_6097insA	c.(6097-6099)aaafs	p.K2033fs	EP400_ENST00000330386.6_Frame_Shift_Ins_p.K1916fs|EP400_ENST00000389561.2_Frame_Shift_Ins_p.K1997fs|EP400_ENST00000389562.2_Frame_Shift_Ins_p.K1996fs|EP400_ENST00000332482.4_Frame_Shift_Ins_p.K1960fs			Q96L91	EP400_HUMAN	E1A binding protein p400	2033	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.N1997fs*4(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGAAATTGTTGAAAAATGGAAC	0.436																																						ENST00000333577.4																			1	Insertion - Frameshift(1)	p.N1997fs*4(1)	ovary(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(6094-6099)ttaaaafs		E1A binding protein p400																																				SO:0001589	frameshift_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132522263_132522264insA	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.6101dupA	12.37:g.132522268_132522268dupA	ENSP00000333602:p.Lys2033fs					EP400_ENST00000332482.4_Frame_Shift_Ins_p.LK1959fs|EP400_ENST00000389562.2_Frame_Shift_Ins_p.LK1995fs|EP400_ENST00000389561.2_Frame_Shift_Ins_p.LK1996fs|EP400_ENST00000330386.6_Frame_Shift_Ins_p.LK1915fs	p.LK2032fs			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	32	6205_6206	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2032			Helicase C-terminal.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Frame_Shift_Ins	INS	ENST00000333577.4	37	c.6096_6097insA																																																																																					0.436	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		10	130						10	130	---	---	---	---
IFT88	8100	broad.mit.edu	37	13	21205180	21205180	+	Frame_Shift_Del	DEL	A	A	-	rs547326608		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr13:21205180delA	ENST00000319980.6	+	18	1679	c.1352delA	c.(1351-1353)gaafs	p.E451fs	IFT88_ENST00000537103.1_Frame_Shift_Del_p.E423fs|IFT88_ENST00000461115.1_3'UTR|IFT88_ENST00000382778.4_Frame_Shift_Del_p.E451fs|IFT88_ENST00000351808.5_Frame_Shift_Del_p.E442fs	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	451					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		AAAGTGTTGGAAAAAAAGGAC	0.363																																						ENST00000382778.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27						c.(1351-1353)gafs		intraflagellar transport 88 homolog (Chlamydomonas)							108.0	110.0	109.0					13																	21205180		2203	4300	6503	SO:0001589	frameshift_variant	8100				cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding	g.chr13:21205180delA	AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	20606	protein-coding gene	gene with protein product	"""polaris homolog"""	600595	"""tetratricopeptide repeat domain 10"", ""intraflagellar transport 88 homolog (Chlamydomonas)"""	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.1352delA	13.37:g.21205180delA	ENSP00000323580:p.Glu451fs					IFT88_ENST00000319980.6_Frame_Shift_Del_p.E451fs|IFT88_ENST00000351808.5_Frame_Shift_Del_p.E442fs|IFT88_ENST00000461115.1_3'UTR|IFT88_ENST00000537103.1_Frame_Shift_Del_p.E423fs	p.E451fs			Q13099	IFT88_HUMAN		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)	17	2470	+		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)	451					A2A491|B4DUS2|Q5SZJ6|Q8N719	Frame_Shift_Del	DEL	ENST00000319980.6	37	c.1352delA	CCDS31944.1																																																																																				0.363	IFT88-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044075.3	NM_006531		101	39						101	39	---	---	---	---
TPTE2P1	646405	broad.mit.edu	37	13	25541679	25541679	+	RNA	DEL	T	T	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr13:25541679delT	ENST00000429698.1	-	0	282							Q5T6R2	TPT2L_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1																		TTGAtttttcttttttttgag	0.393																																						ENST00000429698.1																			0																																																			646405							g.chr13:25541679delT			13q12.12-q12.13	2012-10-03			ENSG00000253771	ENSG00000253771			35196	pseudogene	pseudogene							Standard	NR_026730		Approved		uc010tdh.2	Q5T6R2	OTTHUMG00000016596		13.37:g.25541679delT														0	282	-								B3KST4|B4DMH9	RNA	DEL	ENST00000429698.1	37																																																																																						0.393	TPTE2P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044206.1			7	3						7	3	---	---	---	---
STARD13	90627	broad.mit.edu	37	13	33684168	33684168	+	Frame_Shift_Del	DEL	G	G	-	rs34251901	byFrequency	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr13:33684168delG	ENST00000336934.5	-	12	3005	c.2889delC	c.(2887-2889)cccfs	p.P963fs	STARD13_ENST00000255486.4_Frame_Shift_Del_p.P955fs|STARD13_ENST00000399365.3_Frame_Shift_Del_p.P845fs	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	963	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GGACCACTGAGGGGGGTGCTT	0.577											OREG0022359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000336934.5																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40						c.(2887-2889)ccfs		StAR-related lipid transfer (START) domain containing 13							92.0	83.0	86.0					13																	33684168		2203	4300	6503	SO:0001589	frameshift_variant	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33684168delG	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.2889delC	13.37:g.33684168delG	ENSP00000338785:p.Pro963fs		OREG0022359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	841	STARD13_ENST00000399365.3_Frame_Shift_Del_p.P845fs|STARD13_ENST00000255486.4_Frame_Shift_Del_p.P955fs	p.P963fs	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	12	3005	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	963			START.		A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Frame_Shift_Del	DEL	ENST00000336934.5	37	c.2889delC	CCDS9348.1																																																																																				0.577	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		63	17						63	17	---	---	---	---
HERC2P2	400322	broad.mit.edu	37	15	23331163	23331163	+	RNA	DEL	A	A	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:23331163delA	ENST00000560464.1	-	0	908									hect domain and RLD 2 pseudogene 2																		AATAAATACTAAAAAAAAAAA	0.368																																						ENST00000560464.1																			0																																																			400322							g.chr15:23331163delA	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23331163delA														0	908	-									RNA	DEL	ENST00000560464.1	37																																																																																						0.368	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			4	8						4	8	---	---	---	---
FAM154B	283726	broad.mit.edu	37	15	82564107	82564107	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:82564107delA	ENST00000339465.5	+	2	286	c.217delA	c.(217-219)aaafs	p.K74fs	FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000565432.1_Frame_Shift_Del_p.K87fs|FAM154B_ENST00000427381.2_Frame_Shift_Del_p.K59fs	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	74										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						GAGACAAGTTAAAAAAGGAAA	0.393																																						ENST00000339465.5																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						c.(217-219)aafs		family with sequence similarity 154, member B							69.0	64.0	65.0					15																	82564107		2203	4300	6503	SO:0001589	frameshift_variant	283726							g.chr15:82564107delA	AL833762	CCDS32310.1	15q25.2	2008-02-21				ENSG00000188659			33727	protein-coding gene	gene with protein product							Standard	XM_005254317		Approved	DKFZp666G057	uc002bgv.3	Q658L1		ENST00000339465.5:c.217delA	15.37:g.82564107delA	ENSP00000340445:p.Lys74fs					FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Frame_Shift_Del_p.K59fs|FAM154B_ENST00000565432.1_Frame_Shift_Del_p.K87fs	p.K74fs	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN			2	286	+			74					B4E2M2	Frame_Shift_Del	DEL	ENST00000339465.5	37	c.217delA	CCDS32310.1																																																																																				0.393	FAM154B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419644.1	NM_001008226		21	73						21	73	---	---	---	---
ACAN	176	broad.mit.edu	37	15	89381922	89381922	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:89381922delC	ENST00000561243.1	+	2	99	c.99delC	c.(97-99)atcfs	p.I33fs	ACAN_ENST00000439576.2_Frame_Shift_Del_p.I33fs|ACAN_ENST00000352105.7_Frame_Shift_Del_p.I33fs|ACAN_ENST00000558207.1_Frame_Shift_Del_p.I33fs|ACAN_ENST00000559004.1_Frame_Shift_Del_p.I33fs			P16112	PGCA_HUMAN	aggrecan	33					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GTGTCAGCATCCCCCAACCGT	0.617																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(97-99)atfs		aggrecan							110.0	122.0	118.0					15																	89381922		2036	4176	6212	SO:0001589	frameshift_variant	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89381922delC	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.99delC	15.37:g.89381922delC	ENSP00000453342:p.Ile33fs					ACAN_ENST00000558207.1_Frame_Shift_Del_p.I33fs|ACAN_ENST00000559004.1_Frame_Shift_Del_p.I33fs|ACAN_ENST00000561243.1_Frame_Shift_Del_p.I33fs|ACAN_ENST00000352105.7_Frame_Shift_Del_p.I33fs	p.I33fs	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		3	473	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		33					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Frame_Shift_Del	DEL	ENST00000561243.1	37	c.99delC	CCDS53970.1																																																																																				0.617	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		22	96						22	96	---	---	---	---
UNC45A	55898	broad.mit.edu	37	15	91479199	91479200	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:91479199_91479200delAG	ENST00000418476.2	+	3	277_278	c.237_238delAG	c.(235-240)acagagfs	p.E80fs	UNC45A_ENST00000394275.2_Frame_Shift_Del_p.E65fs|AC068831.3_ENST00000438890.1_RNA|AC068831.3_ENST00000448987.1_RNA|UNC45A_ENST00000553671.2_3'UTR	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	80					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			AAGCAGAAACAGAGGCATCCAA	0.564																																						ENST00000394275.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(190-195)acagfs		unc-45 homolog A (C. elegans)																																				SO:0001589	frameshift_variant	55898				cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding	g.chr15:91479199_91479200delAG		CCDS10367.1, CCDS42082.1	15q26.1	2008-02-05			ENSG00000140553	ENSG00000140553			30594	protein-coding gene	gene with protein product	"""smooth muscle cell associated protein-1"""	611219				12356907	Standard	XM_005254963		Approved	SMAP-1, GC-UNC45	uc002bqg.3	Q9H3U1	OTTHUMG00000141261	ENST00000418476.2:c.237_238delAG	15.37:g.91479201_91479202delAG	ENSP00000407487:p.Glu80fs					UNC45A_ENST00000418476.2_Frame_Shift_Del_p.TE79fs|UNC45A_ENST00000553671.2_3'UTR	p.TE64fs	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	Lung(145;0.189)		6	1027_1028	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		79					A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Frame_Shift_Del	DEL	ENST00000418476.2	37	c.192_193delAG	CCDS10367.1																																																																																				0.564	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280406.2	NM_018671		32	38						32	38	---	---	---	---
ALG1	56052	broad.mit.edu	37	16	5125391	5125391	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:5125391delC	ENST00000262374.5	+	4	424	c.393delC	c.(391-393)aacfs	p.N131fs	ALG1_ENST00000544428.1_Frame_Shift_Del_p.N20fs|ALG1_ENST00000588623.1_Frame_Shift_Del_p.N20fs	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	131					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipopolysaccharide biosynthetic process (GO:0009103)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitobiosyldiphosphodolichol beta-mannosyltransferase activity (GO:0004578)|mannosyltransferase activity (GO:0000030)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				TTTCCTAGAACCCCCCAGGTC	0.493																																						ENST00000588623.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(58-60)aafs		ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase							170.0	151.0	157.0					16																	5125391		2197	4300	6497	SO:0001589	frameshift_variant	56052				dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity	g.chr16:5125391delC	AB019038	CCDS10528.1	16p13.3	2013-02-22	2013-02-22		ENSG00000033011	ENSG00000033011	2.4.1.142	"""Glycosyltransferase group 1 domain containing"""	18294	protein-coding gene	gene with protein product		605907	"""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)"", ""asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)"""			10704531	Standard	NM_019109		Approved	HMT-1, HMAT1	uc002cym.3	Q9BT22	OTTHUMG00000129529	ENST00000262374.5:c.393delC	16.37:g.5125391delC	ENSP00000262374:p.Asn131fs					ALG1_ENST00000262374.5_Frame_Shift_Del_p.N131fs|ALG1_ENST00000544428.1_Frame_Shift_Del_p.N20fs	p.N20fs			Q9BT22	ALG1_HUMAN			5	1160	+		Ovarian(90;0.0164)	131					B4DP08|Q6UVZ9|Q8N5Y4|Q9P2Y2	Frame_Shift_Del	DEL	ENST00000262374.5	37	c.60delC	CCDS10528.1																																																																																				0.493	ALG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251716.2	NM_019109		33	264						33	264	---	---	---	---
FAM86A	196483	broad.mit.edu	37	16	5140283	5140283	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:5140283delG	ENST00000427587.4	-	6	612	c.544delC	c.(544-546)cggfs	p.R182fs	FAM86A_ENST00000458008.4_Frame_Shift_Del_p.R148fs|FAM86A_ENST00000587133.1_Frame_Shift_Del_p.R121fs	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	182						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						ATGTATGCCCGGGGGCGGCAC	0.602																																						ENST00000427587.4																			0				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						c.(544-546)ggfs		family with sequence similarity 86, member A							34.0	40.0	38.0					16																	5140283		1503	2704	4207	SO:0001589	frameshift_variant	196483							g.chr16:5140283delG	BC010084	CCDS10529.1, CCDS10530.1, CCDS73823.1	16p13.3	2012-11-07			ENSG00000118894	ENSG00000118894			32221	protein-coding gene	gene with protein product		615263					Standard	NM_201400		Approved	SB153, MGC19636	uc002cyo.2	Q96G04	OTTHUMG00000129527	ENST00000427587.4:c.544delC	16.37:g.5140283delG	ENSP00000398502:p.Arg182fs					FAM86A_ENST00000458008.4_Frame_Shift_Del_p.R148fs|FAM86A_ENST00000587133.1_Frame_Shift_Del_p.R121fs	p.R182fs	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN			6	612	-			182					D3DUF0|Q96S85	Frame_Shift_Del	DEL	ENST00000427587.4	37	c.544delC	CCDS10529.1																																																																																				0.602	FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251713.1	NM_201400		7	107						7	107	---	---	---	---
FOPNL	123811	broad.mit.edu	37	16	15978038	15978038	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:15978038delT	ENST00000255759.6	-	2	82	c.53delA	c.(52-54)aagfs	p.K18fs	FOPNL_ENST00000575073.1_Frame_Shift_Del_p.K18fs|CTA-972D3.2_ENST00000573856.1_RNA|FOPNL_ENST00000575744.1_Intron|FOPNL_ENST00000573396.1_Frame_Shift_Del_p.K18fs|FOPNL_ENST00000573968.1_Frame_Shift_Del_p.K18fs|FOPNL_ENST00000573429.1_Frame_Shift_Del_p.K18fs	NM_144600.2	NP_653201.1	Q96NB1	FOPNL_HUMAN	FGFR1OP N-terminal like	18	Necessary and sufficient for homooligomerization and localization to centrosomes and pericentriolar satellites.				cilium assembly (GO:0042384)|microtubule anchoring (GO:0034453)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(1)|large_intestine(1)|lung(5)|stomach(4)	11						TAATACCCCCTTTTTTTCCAA	0.373																																						ENST00000255759.6																			0				breast(1)|large_intestine(1)|lung(5)|stomach(4)	11						c.(52-54)agfs		FGFR1OP N-terminal like							54.0	58.0	56.0					16																	15978038		2197	4300	6497	SO:0001589	frameshift_variant	123811				cilium assembly|microtubule anchoring	centriolar satellite|microtubule basal body|motile cilium	identical protein binding	g.chr16:15978038delT	AL832498	CCDS10567.1	16p13.11	2011-03-18	2011-03-18	2011-03-18	ENSG00000133393	ENSG00000133393			26435	protein-coding gene	gene with protein product	"""pluripotent embryonic stem cell-related protein"", ""FOP-related protein of 20 kDa"""		"""chromosome 16 open reading frame 63"""	C16orf63		12477932	Standard	NM_144600		Approved	DKFZp686N1651, FLJ31153, PHSECRG2, FOR20	uc002dec.1	Q96NB1	OTTHUMG00000129923	ENST00000255759.6:c.53delA	16.37:g.15978038delT	ENSP00000255759:p.Lys18fs					FOPNL_ENST00000575073.1_Frame_Shift_Del_p.K18fs|FOPNL_ENST00000573396.1_Frame_Shift_Del_p.K18fs|FOPNL_ENST00000575744.1_Intron|FOPNL_ENST00000573968.1_Frame_Shift_Del_p.K18fs|FOPNL_ENST00000573429.1_Frame_Shift_Del_p.K18fs	p.K18fs	NM_144600.2	NP_653201.1	Q96NB1	FOPNL_HUMAN			2	82	-			18			Necessary and sufficient for homooligomerization and localization to centrosomes and pericentriolar satellites.		B3KPU9	Frame_Shift_Del	DEL	ENST00000255759.6	37	c.53delA	CCDS10567.1																																																																																				0.373	FOPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252177.2	NM_144600		24	175						24	175	---	---	---	---
SMG1P3	100271836	broad.mit.edu	37	16	21469994	21469994	+	RNA	DEL	A	A	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:21469994delA	ENST00000520823.2	-	0	749				snoU13_ENST00000459321.1_RNA																							ACTGTACATTAAAAAAAAAAA	0.294																																						ENST00000520823.2																			0																																																			100271836							g.chr16:21469994delA																													16.37:g.21469994delA														0	749	-									RNA	DEL	ENST00000520823.2	37																																																																																						0.294	CTD-2547E10.2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000378302.2			3	4						3	4	---	---	---	---
ATXN2L	11273	broad.mit.edu	37	16	28847350	28847350	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:28847350delG	ENST00000336783.4	+	22	3159	c.2992delG	c.(2992-2994)gggfs	p.G999fs	ATXN2L_ENST00000570200.1_Frame_Shift_Del_p.G999fs|ATXN2L_ENST00000340394.8_Frame_Shift_Del_p.G999fs|ATXN2L_ENST00000382686.4_Frame_Shift_Del_p.G999fs|ATXN2L_ENST00000325215.6_Frame_Shift_Del_p.G999fs|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000395547.2_Frame_Shift_Del_p.G999fs|ATXN2L_ENST00000564304.1_Frame_Shift_Del_p.G1005fs	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	999					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCAGAGTCATGGGGGGCCCCC	0.682																																						ENST00000336783.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(2992-2994)ggfs		ataxin 2-like			,,,,	15,4019		5,5,2007	31.0	40.0	37.0		,,,,	4.8	1.0	16		37	7,7989		1,5,3992	no	frameshift,frameshift,frameshift,frameshift,frameshift	ATXN2L	NM_148416.1,NM_148415.1,NM_148414.1,NM_145714.1,NM_007245.2	,,,,	6,10,5999	A1A1,A1R,RR		0.0875,0.3718,0.1829	,,,,	,,,,	28847350	22,12008	2119	4220	6339	SO:0001589	frameshift_variant	11273					membrane		g.chr16:28847350delG		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.2992delG	16.37:g.28847350delG	ENSP00000338718:p.Gly999fs					ATXN2L_ENST00000570200.1_Frame_Shift_Del_p.G999fs|ATXN2L_ENST00000564304.1_Frame_Shift_Del_p.G1005fs|ATXN2L_ENST00000395547.2_Frame_Shift_Del_p.G999fs|ATXN2L_ENST00000340394.8_Frame_Shift_Del_p.G999fs|ATXN2L_ENST00000382686.4_Frame_Shift_Del_p.G999fs|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000325215.6_Frame_Shift_Del_p.G999fs	p.G999fs	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN			22	3159	+			999					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Frame_Shift_Del	DEL	ENST00000336783.4	37	c.2992delG	CCDS10641.1																																																																																				0.682	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		10	118						10	118	---	---	---	---
ZNF267	10308	broad.mit.edu	37	16	31927006	31927008	+	In_Frame_Del	DEL	TTA	TTA	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:31927006_31927008delTTA	ENST00000300870.10	+	4	1645_1647	c.1436_1438delTTA	c.(1435-1440)cttatt>ctt	p.I480del		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	480					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						TCTTCAAATCTTATTATGCATCA	0.36																																						ENST00000300870.10																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						c.(1435-1440)ctt>c		zinc finger protein 267																																				SO:0001651	inframe_deletion	10308				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31927006_31927008delTTA	X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.1436_1438delTTA	16.37:g.31927009_31927011delTTA	ENSP00000300870:p.Ile480del					RP11-170L3.8_ENST00000575471.1_RNA	p.LI479del	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN			4	1645_1647	+			479					A0JNZ9|Q8NE41|Q9NRJ0	In_Frame_Del	DEL	ENST00000300870.10	37	c.1436_1438delTTA	CCDS32440.1																																																																																				0.360	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414		62	54						62	54	---	---	---	---
SLC6A10P	386757	broad.mit.edu	37	16	32890716	32890716	+	RNA	DEL	C	C	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:32890716delC	ENST00000330048.5	-	0	3129					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		ccccgccccgccccccccacc	0.612																																						ENST00000330048.5																			0																																																			386757							g.chr16:32890716delC	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890716delC								NR_003083.2						0	3129	-									RNA	DEL	ENST00000330048.5	37																																																																																						0.612	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2			2	4						2	4	---	---	---	---
CDH8	1006	broad.mit.edu	37	16	61935344	61935344	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:61935344delT	ENST00000577390.1	-	3	1240	c.286delA	c.(286-288)atcfs	p.I96fs	CDH8_ENST00000577730.1_Frame_Shift_Del_p.I96fs|CDH8_ENST00000299345.6_Frame_Shift_Del_p.I96fs|CDH8_ENST00000584337.1_Frame_Shift_Del_p.I96fs	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	96	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ATATACTTGATTTTTTTGCTC	0.373																																						ENST00000577390.1																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(286-288)tcfs		cadherin 8, type 2							80.0	76.0	78.0					16																	61935344		2203	4300	6503	SO:0001589	frameshift_variant	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61935344delT	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.286delA	16.37:g.61935344delT	ENSP00000462701:p.Ile96fs					CDH8_ENST00000299345.6_Frame_Shift_Del_p.I96fs|CDH8_ENST00000584337.1_Frame_Shift_Del_p.I96fs|CDH8_ENST00000577730.1_Frame_Shift_Del_p.I96fs	p.I96fs	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	3	1240	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	96			Cadherin 1.		B3KWC1|Q14DC6|Q9ULB2	Frame_Shift_Del	DEL	ENST00000577390.1	37	c.286delA	CCDS10802.1																																																																																				0.373	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		7	185						7	185	---	---	---	---
AC012322.1	0	broad.mit.edu	37	16	64294940	64294940	+	lincRNA	DEL	T	T	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:64294940delT	ENST00000561657.1	-	0	584																											ATTTTCTTTCTTTTTTTTTAA	0.398																																						ENST00000561657.1																			0																																																			0							g.chr16:64294940delT																													16.37:g.64294940delT														0	584	-									RNA	DEL	ENST00000561657.1	37																																																																																						0.398	AC012322.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000420578.1			11	45						11	45	---	---	---	---
ATP1B2	482	broad.mit.edu	37	17	7556715	7556716	+	Frame_Shift_Ins	INS	-	-	T	rs372597402		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:7556715_7556716insT	ENST00000250111.4	+	2	543_544	c.136_137insT	c.(136-138)gttfs	p.V46fs		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	46					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein stabilization (GO:0050821)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.0?(2)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		CTTCTACCTCGTTTTTTATGGG	0.559																																						ENST00000250111.4																			3	Whole gene deletion(2)|Unknown(1)	p.0?(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|bone(1)	central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10						c.(136-138)tttfs		ATPase, Na+/K+ transporting, beta 2 polypeptide																																				SO:0001589	frameshift_variant	482				ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	g.chr17:7556715_7556716insT	U45945	CCDS32550.1	17p13.1	2012-10-22			ENSG00000129244	ENSG00000129244	3.6.3.9	"""ATPases / P-type"""	805	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit beta-2"", ""sodium pump subunit beta-2"", ""sodium-potassium ATPase subunit beta 2 (non-catalytic)"""	182331				1699290	Standard	NM_001678		Approved	AMOG	uc002gif.1	P14415		ENST00000250111.4:c.142dupT	17.37:g.7556721_7556721dupT	ENSP00000250111:p.Val46fs						p.F46fs	NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)	2	543_544	+		all_cancers(10;0.000178)|Prostate(122;0.081)	46					A0AV17|A8K278|D3DTQ2|O60444	Frame_Shift_Ins	INS	ENST00000250111.4	37	c.136_137insT	CCDS32550.1																																																																																				0.559	ATP1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440234.1	NM_001678		17	150						17	150	---	---	---	---
ZNF18	7566	broad.mit.edu	37	17	11881757	11881759	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:11881757_11881759delCTC	ENST00000322748.3	-	9	1769_1771	c.1165_1167delGAG	c.(1165-1167)gagdel	p.E389del	RP11-1096G20.5_ENST00000580270.1_RNA|ZNF18_ENST00000580306.2_In_Frame_Del_p.E389del|ZNF18_ENST00000454073.3_In_Frame_Del_p.E388del	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	389					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		TCTCTCTCTTCTCCTCAAGCCAC	0.522																																						ENST00000322748.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14						c.(1165-1167)del		zinc finger protein 18																																				SO:0001651	inframe_deletion	7566				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:11881757_11881759delCTC	X52342	CCDS32568.1	17p12	2013-01-09	2006-05-10		ENSG00000154957	ENSG00000154957		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12969	protein-coding gene	gene with protein product		194524	"""zinc finger protein 18 (KOX 11)"""			15702252	Standard	XM_005256786		Approved	ZKSCAN6, KOX11, HDSG1, Zfp535, ZNF535, ZSCAN38	uc002gng.1	P17022	OTTHUMG00000178307	ENST00000322748.3:c.1165_1167delGAG	17.37:g.11881760_11881762delCTC	ENSP00000315664:p.Glu389del					ZNF18_ENST00000454073.3_In_Frame_Del_p.E388del|ZNF18_ENST00000580306.1_In_Frame_Del_p.E389del|ZNF18_ENST00000580613.1_Intron	p.E389del	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN		Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)	9	1769_1771	-			389					Q5QHQ3|Q8IYC4|Q8NAH6	In_Frame_Del	DEL	ENST00000322748.3	37	c.1165_1167delGAG	CCDS32568.1																																																																																				0.522	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441450.2	XM_085596		62	99						62	99	---	---	---	---
MPRIP	23164	broad.mit.edu	37	17	17046886	17046886	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:17046886delC	ENST00000341712.4	+	9	1052	c.1052delC	c.(1051-1053)gccfs	p.A351fs	MPRIP_ENST00000444976.1_Intron|MPRIP_ENST00000395804.3_Frame_Shift_Del_p.A351fs|MPRIP_ENST00000395811.5_Frame_Shift_Del_p.A351fs			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	351	Interaction with F-actin. {ECO:0000250}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						ACCAATGAAGCCCCCCCAGCT	0.652																																						ENST00000395811.5																			0				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						c.(1051-1053)gcfs		myosin phosphatase Rho interacting protein							54.0	48.0	50.0					17																	17046886		2202	4300	6502	SO:0001589	frameshift_variant	23164					cytoplasm|cytoskeleton	actin binding	g.chr17:17046886delC	BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.1052delC	17.37:g.17046886delC	ENSP00000342379:p.Ala351fs					MPRIP_ENST00000395804.3_Frame_Shift_Del_p.A351fs|MPRIP_ENST00000341712.4_Frame_Shift_Del_p.A351fs|MPRIP_ENST00000444976.1_Intron	p.A351fs	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN			9	1141	+			351			Interaction with F-actin (By similarity).		Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Frame_Shift_Del	DEL	ENST00000341712.4	37	c.1052delC	CCDS32578.1																																																																																				0.652	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134		15	19						15	19	---	---	---	---
C17orf102	400591	broad.mit.edu	37	17	32906089	32906090	+	Frame_Shift_Ins	INS	-	-	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:32906089_32906090insC	ENST00000357754.1	-	1	298_299	c.210_211insG	c.(208-213)gggcacfs	p.H71fs	TMEM132E_ENST00000321639.5_5'Flank	NM_207454.2	NP_997337.2	A2RUQ5	CQ102_HUMAN	chromosome 17 open reading frame 102	71										central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						GGGGTAGGGTGCCCCCTACCCG	0.683																																						ENST00000357754.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						c.(208-213)ggacccfs		chromosome 17 open reading frame 102																																				SO:0001589	frameshift_variant	400591							g.chr17:32906089_32906090insC		CCDS42297.1	17q12	2009-02-11			ENSG00000197322	ENSG00000197322			34412	protein-coding gene	gene with protein product							Standard	NM_207454		Approved	FLJ44815	uc002hie.1	A2RUQ5	OTTHUMG00000156883	ENST00000357754.1:c.211dupG	17.37:g.32906094_32906094dupC	ENSP00000350392:p.His71fs						p.P71fs	NM_207454.2	NP_997337.2	A2RUQ5	CQ102_HUMAN			1	298_299	-			71					A5PKX0|Q6ZTB3	Frame_Shift_Ins	INS	ENST00000357754.1	37	c.210_211insG	CCDS42297.1																																																																																				0.683	C17orf102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346435.1	NM_207454		66	123						66	123	---	---	---	---
DUSP14	11072	broad.mit.edu	37	17	35872691	35872691	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:35872691delC	ENST00000487847.1	+	2	1295	c.317delC	c.(316-318)gccfs	p.A106fs	DUSP14_ENST00000394386.1_Frame_Shift_Del_p.A106fs|DUSP14_ENST00000394389.4_Frame_Shift_Del_p.A106fs			O95147	DUS14_HUMAN	dual specificity phosphatase 14	106	Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)		MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|poly(A) RNA binding (GO:0044822)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	9		Breast(25;0.00637)|Ovarian(249;0.15)				AAGCACGGGGCCACCTTGGTG	0.572																																						ENST00000487847.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	9						c.(316-318)gcfs		dual specificity phosphatase 14							78.0	66.0	70.0					17																	35872691		2203	4300	6503	SO:0001589	frameshift_variant	11072						MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr17:35872691delC	AF038844	CCDS11320.1	17q12	2014-05-06			ENSG00000161326	ENSG00000276023		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	17007	protein-coding gene	gene with protein product	"""MKP-1 like protein tyrosine phosphatase"""	606618				11123293	Standard	XM_005256977		Approved	MKP-L, MKP6	uc002hnx.2	O95147	OTTHUMG00000188472	ENST00000487847.1:c.317delC	17.37:g.35872691delC	ENSP00000466299:p.Ala106fs					DUSP14_ENST00000394386.1_Frame_Shift_Del_p.A106fs|DUSP14_ENST00000394389.4_Frame_Shift_Del_p.A106fs	p.A106fs			O95147	DUS14_HUMAN			2	1295	+		Breast(25;0.00637)|Ovarian(249;0.15)	106			Tyrosine-protein phosphatase.			Frame_Shift_Del	DEL	ENST00000487847.1	37	c.317delC	CCDS11320.1																																																																																				0.572	DUSP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256680.3	NM_007026		37	51						37	51	---	---	---	---
RP11-259G18.1	0	broad.mit.edu	37	17	44344810	44344812	+	RNA	DEL	TCT	TCT	-	rs2732649	byFrequency	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:44344810_44344812delTCT	ENST00000570002.2	+	0	408_410																											ACCCCCGACGTCTTCTTCTTCCG	0.567																																						ENST00000570002.2																			0																																																			0							g.chr17:44344810_44344812delTCT																													17.37:g.44344816_44344818delTCT														0	408_410	+									RNA	DEL	ENST00000570002.2	37																																																																																						0.567	RP11-259G18.1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000431423.2			10	71						10	71	---	---	---	---
SGCA	6442	broad.mit.edu	37	17	48245065	48245066	+	Frame_Shift_Ins	INS	-	-	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:48245065_48245066insC	ENST00000262018.3	+	3	316_317	c.280_281insC	c.(280-282)accfs	p.T94fs	SGCA_ENST00000344627.6_Frame_Shift_Ins_p.T94fs|SGCA_ENST00000543315.1_Frame_Shift_Ins_p.T94fs|SGCA_ENST00000513942.1_Intron|SGCA_ENST00000451235.2_Intron|RP11-893F2.14_ENST00000572855.1_RNA	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	94					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CGGCTCTGCCACCCCAGAAGAT	0.653																																						ENST00000262018.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						c.(280-282)cccfs		sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)																																				SO:0001589	frameshift_variant	6442				muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding	g.chr17:48245065_48245066insC	L34355	CCDS32679.1, CCDS45729.1	17q21	2014-09-17	2002-08-29		ENSG00000108823	ENSG00000108823			10805	protein-coding gene	gene with protein product	"""50kD DAG"", ""Sarcoglycan, alpha (50kD dystrophin-associated glycoprotein; adhalin)"", ""adhalin (limb girdle muscular dystrophy 2D)"""	600119	"""sarcoglycan, alpha (50kD dystrophin-associated glycoprotein)"""	ADL		7937874	Standard	NM_000023		Approved	SCARMD1, LGMD2D, adhalin, DMDA2, A2	uc002iqi.3	Q16586	OTTHUMG00000162024	ENST00000262018.3:c.284dupC	17.37:g.48245069_48245069dupC	ENSP00000262018:p.Thr94fs					SGCA_ENST00000513942.1_Intron|SGCA_ENST00000543315.1_Frame_Shift_Ins_p.P94fs|SGCA_ENST00000451235.2_Intron|SGCA_ENST00000344627.6_Frame_Shift_Ins_p.P94fs	p.P94fs	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN			3	316_317	+			94					A6NEB8|A8K3K7|Q13710|Q13712	Frame_Shift_Ins	INS	ENST00000262018.3	37	c.280_281insC	CCDS32679.1																																																																																				0.653	SGCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366841.1	NM_000023		13	21						13	21	---	---	---	---
RPS6KB1	6198	broad.mit.edu	37	17	57970583	57970583	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:57970583delC	ENST00000225577.4	+	1	59	c.38delC	c.(37-39)gccfs	p.A13fs	TUBD1_ENST00000592426.1_5'Flank|TUBD1_ENST00000539018.1_5'Flank|TUBD1_ENST00000376094.4_5'Flank|TUBD1_ENST00000325752.3_5'Flank|RPS6KB1_ENST00000406116.3_Frame_Shift_Del_p.A13fs|RPS6KB1_ENST00000443572.2_Frame_Shift_Del_p.A13fs|TUBD1_ENST00000346141.6_5'Flank|RPS6KB1_ENST00000393021.3_5'Flank|TUBD1_ENST00000340993.6_5'Flank|TUBD1_ENST00000591611.1_5'Flank|TUBD1_ENST00000394239.3_5'Flank	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	13					aging (GO:0007568)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell development (GO:0007281)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue growth (GO:0048633)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of glucose import (GO:0046324)|response to drug (GO:0042493)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to leucine (GO:0043201)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|response to tumor necrosis factor (GO:0034612)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			TTTTACCCAGCCCCGGACTTC	0.657																																						ENST00000225577.4																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(37-39)gcfs		ribosomal protein S6 kinase, 70kDa, polypeptide 1							27.0	29.0	28.0					17																	57970583		2202	4300	6502	SO:0001589	frameshift_variant	6198				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity	g.chr17:57970583delC	M60724	CCDS11621.1, CCDS62271.1, CCDS62272.1, CCDS62273.1	17q23.1	2011-04-05	2002-08-29		ENSG00000108443	ENSG00000108443			10436	protein-coding gene	gene with protein product		608938	"""ribosomal protein S6 kinase, 70kD, polypeptide 1"""	STK14A		1922062	Standard	NM_003161		Approved	S6K1, p70(S6K)-alpha, PS6K	uc002ixy.4	P23443	OTTHUMG00000150642	ENST00000225577.4:c.38delC	17.37:g.57970583delC	ENSP00000225577:p.Ala13fs					RPS6KB1_ENST00000443572.2_Frame_Shift_Del_p.A13fs|RPS6KB1_ENST00000406116.3_Frame_Shift_Del_p.A13fs	p.A13fs	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)		1	59	+	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		13					B2R779|B4DLT4|B4DTG1|E7ESB8|F6UYM1|Q7Z721	Frame_Shift_Del	DEL	ENST00000225577.4	37	c.38delC	CCDS11621.1																																																																																				0.657	RPS6KB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319324.1	NM_003161		9	17						9	17	---	---	---	---
BCAS3	54828	broad.mit.edu	37	17	59465981	59465981	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:59465981delA	ENST00000589222.1	+	25	2730	c.2662delA	c.(2662-2664)aaafs	p.K890fs	BCAS3_ENST00000588874.1_Intron|BCAS3_ENST00000390652.5_Intron|RP11-332H18.5_ENST00000585765.1_RNA|BCAS3_ENST00000588462.1_Intron|BCAS3_ENST00000585812.1_Intron|BCAS3_ENST00000407086.3_Intron|BCAS3_ENST00000585744.1_Intron|BCAS3_ENST00000408905.3_Intron					breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TTCAAAAGGGAAAAAAAAAGG	0.443																																						ENST00000589222.1																			0				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(2662-2664)aafs		breast carcinoma amplified sequence 3							6.0	5.0	5.0					17																	59465981		836	1922	2758	SO:0001589	frameshift_variant	54828					nucleus		g.chr17:59465981delA	AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000589222.1:c.2662delA	17.37:g.59465981delA	ENSP00000466078:p.Lys890fs					RP11-332H18.5_ENST00000585765.1_RNA|BCAS3_ENST00000588462.1_Intron|BCAS3_ENST00000585812.1_Intron|BCAS3_ENST00000390652.5_Intron|BCAS3_ENST00000407086.3_Intron|BCAS3_ENST00000408905.3_Intron|BCAS3_ENST00000588874.1_Intron|BCAS3_ENST00000585744.1_Intron	p.K890fs			Q9H6U6	BCAS3_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)		25	2730	+			0						Frame_Shift_Del	DEL	ENST00000589222.1	37	c.2662delA																																																																																					0.443	BCAS3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000449571.1	NM_017679		5	3						5	3	---	---	---	---
LOC146880	146880	broad.mit.edu	37	17	62750914	62750914	+	RNA	DEL	T	T	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:62750914delT	ENST00000400873.3	-	0	1841					NR_026899.1																						CTGATTATGCttttttttttg	0.433																																						ENST00000400873.3																			0																																																			146880							g.chr17:62750914delT																													17.37:g.62750914delT								NR_026899.1						0	1841	-									RNA	DEL	ENST00000400873.3	37																																																																																						0.433	hsa-mir-6080.1-201	KNOWN	basic	processed_transcript	processed_transcript				4	7						4	7	---	---	---	---
UNC13D	201294	broad.mit.edu	37	17	73830723	73830725	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:73830723_73830725delCTT	ENST00000207549.4	-	22	2444_2446	c.2065_2067delAAG	c.(2065-2067)aagdel	p.K689del	UNC13D_ENST00000412096.2_In_Frame_Del_p.K689del	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	689					defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCCTTGGTCCTTCTGGCCTGAA	0.631									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000207549.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2065-2067)del		unc-13 homolog D (C. elegans)																																				SO:0001651	inframe_deletion	201294	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	g.chr17:73830723_73830725delCTT	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.2065_2067delAAG	17.37:g.73830723_73830725delCTT	ENSP00000207549:p.Lys689del					UNC13D_ENST00000412096.2_In_Frame_Del_p.K689del	p.K689del	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)		22	2444_2446	-			689					B4DWG9|Q9H7K5	In_Frame_Del	DEL	ENST00000207549.4	37	c.2065_2067delAAG	CCDS11730.1																																																																																				0.631	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950		11	57						11	57	---	---	---	---
UNC13D	201294	broad.mit.edu	37	17	73836377	73836377	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:73836377delG	ENST00000207549.4	-	10	1166	c.787delC	c.(787-789)ctgfs	p.L263fs	UNC13D_ENST00000587504.1_5'UTR|UNC13D_ENST00000412096.2_Frame_Shift_Del_p.L263fs	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	263	Interaction with RAB27A.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGGGGTTCCAGGGGGTACCAC	0.652									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000207549.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(787-789)tgfs		unc-13 homolog D (C. elegans)							47.0	44.0	45.0					17																	73836377		2203	4300	6503	SO:0001589	frameshift_variant	201294	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	g.chr17:73836377delG	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.787delC	17.37:g.73836377delG	ENSP00000207549:p.Leu263fs					UNC13D_ENST00000587504.1_5'UTR|UNC13D_ENST00000412096.2_Frame_Shift_Del_p.L263fs	p.L263fs	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)		10	1166	-			263			Interaction with RAB27A.		B4DWG9|Q9H7K5	Frame_Shift_Del	DEL	ENST00000207549.4	37	c.787delC	CCDS11730.1																																																																																				0.652	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950		8	52						8	52	---	---	---	---
DUS1L	64118	broad.mit.edu	37	17	80019231	80019232	+	Splice_Site	DEL	TG	TG	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:80019231_80019232delTG	ENST00000354321.7	-	7	1183		c.e7-2		DUS1L_ENST00000306796.5_Splice_Site			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)								flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GGTTGCCCTCTGTGGGAGGAGG	0.663																																						ENST00000354321.7																			0				breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6						c.e7-2		dihydrouridine synthase 1-like (S. cerevisiae)																																				SO:0001630	splice_region_variant	64118				tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr17:80019231_80019232delTG		CCDS32775.1	17q25.3	2005-08-09				ENSG00000169718			30086	protein-coding gene	gene with protein product						12477932	Standard	NM_022156		Approved	PP3111, DUS1	uc002kdr.4	Q6P1R4		ENST00000354321.7:c.698-2CA>-	17.37:g.80019233_80019234delTG						DUS1L_ENST00000306796.5_Splice_Site				Q6P1R4	DUS1L_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		7	1183	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)							A6NHV4|Q96AI3	Splice_Site	DEL	ENST00000354321.7	37		CCDS32775.1																																																																																				0.663	DUS1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442347.1	NM_022156	Intron	22	33						22	33	---	---	---	---
SLC39A6	25800	broad.mit.edu	37	18	33706880	33706880	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr18:33706880delG	ENST00000590986.1	-	2	380	c.91delC	c.(91-93)cagfs	p.Q31fs	ELP2_ENST00000358232.6_5'Flank|ELP2_ENST00000351393.6_5'Flank|ELP2_ENST00000423854.2_5'Flank|ELP2_ENST00000442325.2_5'Flank|SLC39A6_ENST00000440549.2_Intron|SLC39A6_ENST00000269187.5_Frame_Shift_Del_p.Q31fs			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	31					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|lamellipodium membrane (GO:0031258)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						TCAGTGGTCTGGGGGAAAGCA	0.453																																						ENST00000269187.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						c.(91-93)agfs		solute carrier family 39 (zinc transporter), member 6							90.0	86.0	87.0					18																	33706880		1850	4093	5943	SO:0001589	frameshift_variant	25800					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity	g.chr18:33706880delG	U41060	CCDS42428.1, CCDS45854.1	18q12.2	2013-05-22				ENSG00000141424		"""Solute carriers"""	18607	protein-coding gene	gene with protein product		608731	"""solute carrier family 39 (metal ion transporter), member 6"""			12659941, 12839489	Standard	NM_012319		Approved	LIV-1	uc010dmy.3	Q13433		ENST00000590986.1:c.91delC	18.37:g.33706880delG	ENSP00000465915:p.Gln31fs					SLC39A6_ENST00000590986.1_Frame_Shift_Del_p.Q31fs|SLC39A6_ENST00000440549.2_Intron	p.Q31fs	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN			2	304	-			31					B4DR49|B4E224|Q8IXR3|Q96HP5	Frame_Shift_Del	DEL	ENST00000590986.1	37	c.91delC	CCDS42428.1																																																																																				0.453	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000444136.1			27	95						27	95	---	---	---	---
ZBTB7C	201501	broad.mit.edu	37	18	45566519	45566519	+	Frame_Shift_Del	DEL	C	C	-	rs113275715		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr18:45566519delC	ENST00000588982.1	-	3	1461	c.960delG	c.(958-960)gggfs	p.G320fs	ZBTB7C_ENST00000586438.1_Frame_Shift_Del_p.G320fs|ZBTB7C_ENST00000535628.2_Frame_Shift_Del_p.G320fs|ZBTB7C_ENST00000590800.1_Frame_Shift_Del_p.G320fs|ZBTB7C_ENST00000332053.2_Frame_Shift_Del_p.G320fs			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	320	Pro-rich.						metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GTCCCAGAGGCCCCCCCGGCA	0.627																																						ENST00000588982.1																			0				endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(958-960)ggfs		zinc finger and BTB domain containing 7C							53.0	57.0	56.0					18																	45566519		2203	4300	6503	SO:0001589	frameshift_variant	201501					intracellular	nucleic acid binding|zinc ion binding	g.chr18:45566519delC	Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31700	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 36"""	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.960delG	18.37:g.45566519delC	ENSP00000468782:p.Gly320fs					ZBTB7C_ENST00000590800.1_Frame_Shift_Del_p.G320fs|ZBTB7C_ENST00000332053.2_Frame_Shift_Del_p.G320fs|ZBTB7C_ENST00000535628.2_Frame_Shift_Del_p.G320fs|ZBTB7C_ENST00000586438.1_Frame_Shift_Del_p.G320fs	p.G320fs			A1YPR0	ZBT7C_HUMAN			3	1461	-			320			Pro-rich.		O73453	Frame_Shift_Del	DEL	ENST00000588982.1	37	c.960delG	CCDS32830.1																																																																																				0.627	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450731.1	NM_001039360		47	51						47	51	---	---	---	---
CTIF	9811	broad.mit.edu	37	18	46284307	46284308	+	Frame_Shift_Ins	INS	-	-	G	rs111264927		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr18:46284307_46284308insG	ENST00000256413.3	+	8	897_898	c.602_603insG	c.(601-606)ccggggfs	p.PG201fs	CTIF_ENST00000382998.4_Frame_Shift_Ins_p.PG201fs	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	201	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)	p.P153L(1)|p.P201L(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						CAGAGACCTCCGGGGGGCAACA	0.629																																						ENST00000256413.3																			2	Substitution - Missense(2)	p.P153L(1)|p.P201L(1)	lung(2)	breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(601-603)cggfs		CBP80/20-dependent translation initiation factor																																				SO:0001589	frameshift_variant	9811				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding	g.chr18:46284307_46284308insG	AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"""KIAA0427"""	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.608dupG	18.37:g.46284313_46284313dupG	ENSP00000256413:p.Pro201fs					CTIF_ENST00000382998.4_Frame_Shift_Ins_p.R201fs	p.R201fs	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN			8	897_898	+			201			Interaction with NCBP1/CBP80.		B3KTR8|Q8IVD5	Frame_Shift_Ins	INS	ENST00000256413.3	37	c.602_603insG	CCDS11935.1																																																																																				0.629	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255907.1	NM_014772		7	187						7	187	---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67869207	67869207	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr18:67869207delT	ENST00000255674.6	-	4	696	c.410delA	c.(409-411)aacfs	p.N137fs	RTTN_ENST00000454359.1_Frame_Shift_Del_p.N137fs|RTTN_ENST00000437017.1_Frame_Shift_Del_p.N137fs	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	137					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GATTTCAGGGTTTTTTGACAA	0.358																																						ENST00000255674.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(409-411)acfs		rotatin							81.0	77.0	78.0					18																	67869207		1814	4079	5893	SO:0001589	frameshift_variant	25914						binding	g.chr18:67869207delT	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.410delA	18.37:g.67869207delT	ENSP00000255674:p.Asn137fs					RTTN_ENST00000454359.1_Frame_Shift_Del_p.N137fs|RTTN_ENST00000437017.1_Frame_Shift_Del_p.N137fs	p.N137fs	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN			4	696	-		Esophageal squamous(42;0.129)	137					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Frame_Shift_Del	DEL	ENST00000255674.6	37	c.410delA	CCDS42443.1																																																																																				0.358	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		10	44						10	44	---	---	---	---
ZNF516	9658	broad.mit.edu	37	18	74091541	74091541	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr18:74091541delC	ENST00000443185.2	-	4	2846	c.2529delG	c.(2527-2529)gggfs	p.G843fs	ZNF516_ENST00000524431.2_5'UTR|RP11-504I13.3_ENST00000583287.1_RNA	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	843					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		ACCCCGGCATCCCCCCTGGCA	0.637																																						ENST00000443185.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2527-2529)ggfs		zinc finger protein 516							59.0	71.0	67.0					18																	74091541		1927	4118	6045	SO:0001589	frameshift_variant	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74091541delC	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.2529delG	18.37:g.74091541delC	ENSP00000394757:p.Gly843fs					ZNF516_ENST00000524431.2_5'UTR	p.G843fs	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	4	2846	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	843						Frame_Shift_Del	DEL	ENST00000443185.2	37	c.2529delG																																																																																					0.637	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		37	83						37	83	---	---	---	---
NMRK2	27231	broad.mit.edu	37	19	3942174	3942174	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:3942174delC	ENST00000168977.2	+	8	886	c.596delC	c.(595-597)gccfs	p.A199fs	NMRK2_ENST00000593949.1_Frame_Shift_Del_p.A204fs|NMRK2_ENST00000599576.1_3'UTR	NM_170678.2	NP_733778.1	Q9NPI5	NRK2_HUMAN	nicotinamide riboside kinase 2	199					NAD biosynthetic process (GO:0009435)|negative regulation of myoblast differentiation (GO:0045662)	intracellular (GO:0005622)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|ribosylnicotinamide kinase activity (GO:0050262)										CAGGAATCAGCCCCCTCCCCG	0.637																																						ENST00000168977.2																			0											c.(595-597)gcfs		nicotinamide riboside kinase 2							33.0	33.0	33.0					19																	3942174		2203	4300	6503	SO:0001589	frameshift_variant	27231							g.chr19:3942174delC	AF190819	CCDS12115.1, CCDS74259.1	19p13.3	2013-10-28	2012-05-31	2012-05-31	ENSG00000077009	ENSG00000077009			17871	protein-coding gene	gene with protein product	"""muscle-specific beta 1 integrin binding protein"", ""nicotinamide riboside kinase 2"""	608705	"""integrin beta 1 binding protein 3"""	ITGB1BP3		10613898, 15137942	Standard	NM_170678		Approved	MIBP, NRK2	uc002lyz.4	Q9NPI5	OTTHUMG00000181758	ENST00000168977.2:c.596delC	19.37:g.3942174delC	ENSP00000168977:p.Ala199fs					NMRK2_ENST00000599576.1_3'UTR|NMRK2_ENST00000593949.1_Frame_Shift_Del_p.A204fs	p.A199fs	NM_170678.2	NP_733778.1					8	886	+								B7ZKR3|Q52M81|Q9NZK3	Frame_Shift_Del	DEL	ENST00000168977.2	37	c.596delC	CCDS12115.1																																																																																				0.637	NMRK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457492.1	NM_014446, NM_170678		37	42						37	42	---	---	---	---
KHSRP	8570	broad.mit.edu	37	19	6415897	6415898	+	Frame_Shift_Ins	INS	-	-	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:6415897_6415898insC	ENST00000398148.3	-	16	1700_1701	c.1608_1609insG	c.(1606-1611)gggcccfs	p.P537fs	MIR3940_ENST00000579148.1_RNA	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	537	Ala/Gly/Pro-rich.				gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						TGAGGAGGGGGCCCCCCGGCAC	0.663																																					Colon(55;593 1006 2067 9135 22980)	ENST00000398148.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						c.(1606-1611)ggccccfs		KH-type splicing regulatory protein																																				SO:0001589	frameshift_variant	8570				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding	g.chr19:6415897_6415898insC	U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"""FUSE binding protein 2"""	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945		ENST00000398148.3:c.1609dupG	19.37:g.6415903_6415903dupC	ENSP00000381216:p.Pro537fs						p.GP536fs	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN			16	1700_1701	-			536			Ala/Gly/Pro-rich.		O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Frame_Shift_Ins	INS	ENST00000398148.3	37	c.1608_1609insG	CCDS45936.1																																																																																				0.663	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453305.1			5	11						5	11	---	---	---	---
ECSIT	51295	broad.mit.edu	37	19	11618561	11618562	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:11618561_11618562delAC	ENST00000270517.7	-	6	1035_1036	c.900_901delGT	c.(898-903)gtgtatfs	p.Y302fs	ECSIT_ENST00000591104.1_Intron|ZNF653_ENST00000293771.5_5'Flank|ECSIT_ENST00000591352.1_5'Flank|ECSIT_ENST00000592312.1_Frame_Shift_Del_p.C231fs|CTC-398G3.6_ENST00000585656.1_5'Flank|ZNF653_ENST00000593191.1_5'Flank|ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000417981.2_Frame_Shift_Del_p.Y88fs|ECSIT_ENST00000252440.7_Intron	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	302					BMP signaling pathway (GO:0030509)|innate immune response (GO:0045087)|mesoderm formation (GO:0001707)|oxidation-reduction process (GO:0055114)|regulation of oxidoreductase activity (GO:0051341)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	oxidoreductase activity, acting on NAD(P)H (GO:0016651)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						ATGTGGTAATACACACACTTGT	0.619																																						ENST00000270517.7																			0				kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						c.(898-903)gtatfs		ECSIT signalling integrator																																				SO:0001589	frameshift_variant	51295				innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding	g.chr19:11618561_11618562delAC	BC005119	CCDS12262.1, CCDS45979.1, CCDS45980.1, CCDS59353.1	19p13.2	2013-05-24	2013-05-24			ENSG00000130159		"""Mitochondrial respiratory chain complex assembly factors"""	29548	protein-coding gene	gene with protein product	"""signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)"""	608388	"""ECSIT homolog (Drosophila)"""			10465784, 22982022	Standard	NM_001142464		Approved	SITPEC	uc002msb.3	Q9BQ95		ENST00000270517.7:c.900_901delGT	19.37:g.11618567_11618568delAC	ENSP00000270517:p.Tyr302fs					ECSIT_ENST00000252440.7_Intron|ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000591104.1_Intron|ECSIT_ENST00000417981.2_Frame_Shift_Del_p.VY86fs|ECSIT_ENST00000592312.1_Frame_Shift_Del_p.C231fs	p.VY300fs	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN			6	1035_1036	-			300					E9PAN9|K7EMM0|Q96HQ7|Q9NYI1	Frame_Shift_Del	DEL	ENST00000270517.7	37	c.900_901delGT	CCDS12262.1																																																																																				0.619	ECSIT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442603.2	NM_016581		19	70						19	70	---	---	---	---
AKAP8	10270	broad.mit.edu	37	19	15483732	15483733	+	Frame_Shift_Ins	INS	-	-	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:15483732_15483733insC	ENST00000269701.2	-	5	850_851	c.790_791insG	c.(790-792)gcgfs	p.A264fs		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	264					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						ATAGCCGCCCGCCCCCTGCATG	0.708																																					GBM(190;1671 2163 3274 27186 30476)	ENST00000269701.2																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						c.(790-792)gggfs		A kinase (PRKA) anchor protein 8																																				SO:0001589	frameshift_variant	10270				signal transduction	nuclear matrix		g.chr19:15483732_15483733insC	Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"""A-kinase anchor proteins"""	378	protein-coding gene	gene with protein product	"""A-kinase anchor protein, 95kDa"""	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.791dupG	19.37:g.15483737_15483737dupC	ENSP00000269701:p.Ala264fs						p.G264fs	NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN			5	850_851	-			264						Frame_Shift_Ins	INS	ENST00000269701.2	37	c.790_791insG	CCDS12329.1																																																																																				0.708	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858		7	16						7	16	---	---	---	---
ZNF492	57615	broad.mit.edu	37	19	22846645	22846646	+	Frame_Shift_Ins	INS	-	-	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:22846645_22846646insA	ENST00000456783.2	+	4	418_419	c.174_175insA	c.(175-177)aaafs	p.K59fs	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	59					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				CAAAGCAGGGCAAAAAAAATTA	0.302																																						ENST00000456783.2																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(172-177)ggaaaafs		zinc finger protein 492																																				SO:0001589	frameshift_variant	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22846645_22846646insA	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.182dupA	19.37:g.22846653_22846653dupA	ENSP00000413660:p.Lys59fs						p.GK58fs	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN			4	418_419	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	58					Q08EI7|Q08EI8	Frame_Shift_Ins	INS	ENST00000456783.2	37	c.174_175insA	CCDS46032.1																																																																																				0.302	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		18	14						18	14	---	---	---	---
SPRED3	399473	broad.mit.edu	37	19	38886608	38886608	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:38886608delC	ENST00000338502.4	+	5	1159	c.1056delC	c.(1054-1056)gacfs	p.D352fs	SPRED3_ENST00000587013.1_Frame_Shift_Del_p.D396fs|SPRED3_ENST00000586301.1_Frame_Shift_Del_p.D352fs|AC005789.11_ENST00000588453.1_lincRNA	NM_001042522.2	NP_001035987.1	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	352	SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)	plasma membrane (GO:0005886)				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ACTTCTCGGACCCGTGCGCCT	0.761																																						ENST00000587013.1																			0				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9						c.(1186-1188)gafs		sprouty-related, EVH1 domain containing 3							3.0	3.0	3.0					19																	38886608		1617	3571	5188	SO:0001589	frameshift_variant	399473				multicellular organismal development			g.chr19:38886608delC		CCDS42560.1	19q13	2007-10-05				ENSG00000188766			31041	protein-coding gene	gene with protein product		609293				14618415	Standard	NM_001042522		Approved		uc002oim.4	Q2MJR0		ENST00000338502.4:c.1056delC	19.37:g.38886608delC	ENSP00000345405:p.Asp352fs					SPRED3_ENST00000338502.4_Frame_Shift_Del_p.D352fs|SPRED3_ENST00000586301.1_Frame_Shift_Del_p.D352fs	p.D396fs			Q2MJR0	SPRE3_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		5	1266	+	all_cancers(60;3.4e-06)		352			SPR.		Q2MJR1	Frame_Shift_Del	DEL	ENST00000338502.4	37	c.1188delC	CCDS42560.1																																																																																				0.761	SPRED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459216.1	XM_351191		2	4						2	4	---	---	---	---
HNRNPL	3191	broad.mit.edu	37	19	39330917	39330917	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:39330917delC	ENST00000221419.5	-	8	1418	c.1052delG	c.(1051-1053)ggtfs	p.G351fs	AC104534.3_ENST00000594769.1_5'Flank|HNRNPL_ENST00000600873.1_Frame_Shift_Del_p.G218fs	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	351	Pro-rich.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CCGACGGTGACCCCCCACTGG	0.692																																						ENST00000221419.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(1051-1053)gtfs		heterogeneous nuclear ribonucleoprotein L							6.0	8.0	7.0					19																	39330917		1864	3668	5532	SO:0001589	frameshift_variant	3191				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	g.chr19:39330917delC	X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.1052delG	19.37:g.39330917delC	ENSP00000221419:p.Gly351fs					HNRNPL_ENST00000600873.1_Frame_Shift_Del_p.G218fs	p.G351fs	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		8	1418	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		351			Pro-rich.		A6ND69|A6NIT8|Q9H3P3	Frame_Shift_Del	DEL	ENST00000221419.5	37	c.1052delG	CCDS33015.1																																																																																				0.692	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1			4	6						4	6	---	---	---	---
ZNF223	7766	broad.mit.edu	37	19	44571320	44571321	+	Frame_Shift_Ins	INS	-	-	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:44571320_44571321insA	ENST00000434772.3	+	5	1594_1595	c.1339_1340insA	c.(1339-1341)caafs	p.Q447fs	ZNF223_ENST00000591793.1_Frame_Shift_Ins_p.Q557fs	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223	447					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				TAAAGACCAACAAAAAAACCAC	0.356																																						ENST00000591793.1																			0				endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(1669-1671)aaafs		zinc finger protein 223																																				SO:0001589	frameshift_variant	7766				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44571320_44571321insA	AF187989	CCDS12635.1	19q13.2	2013-01-08				ENSG00000178386		"""Zinc fingers, C2H2-type"", ""-"""	13016	protein-coding gene	gene with protein product							Standard	XM_006723365		Approved		uc002oyf.1	Q9UK11		ENST00000434772.3:c.1346dupA	19.37:g.44571327_44571327dupA	ENSP00000401947:p.Gln447fs					ZNF223_ENST00000434772.3_Frame_Shift_Ins_p.K447fs	p.K557fs			Q9UK11	ZN223_HUMAN			7	1752_1753	+		Prostate(69;0.0352)	447					Q15736|Q8TBJ3|Q9HCA9	Frame_Shift_Ins	INS	ENST00000434772.3	37	c.1669_1670insA	CCDS12635.1																																																																																				0.356	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460469.2			44	134						44	134	---	---	---	---
FBXO46	23403	broad.mit.edu	37	19	46215882	46215882	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:46215882delG	ENST00000317683.3	-	2	1005	c.872delC	c.(871-873)cctfs	p.P291fs		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	291										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		TGGGCTGCCAGGGTAGGCACA	0.682																																						ENST00000317683.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15						c.(871-873)ctfs		F-box protein 46							24.0	27.0	26.0					19																	46215882		1966	4143	6109	SO:0001589	frameshift_variant	23403						protein binding	g.chr19:46215882delG	BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"""F-boxes /  ""other"""""	25069	protein-coding gene	gene with protein product		609117	"""F-box only protein 34-like"""	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.872delC	19.37:g.46215882delG	ENSP00000410007:p.Pro291fs						p.P291fs	NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)	2	1005	-		Ovarian(192;0.179)|all_neural(266;0.224)	291						Frame_Shift_Del	DEL	ENST00000317683.3	37	c.872delC	CCDS46116.1																																																																																				0.682	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459661.1	XM_371179		29	33						29	33	---	---	---	---
ZNF432	9668	broad.mit.edu	37	19	52538321	52538321	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:52538321delT	ENST00000594154.1	-	5	823	c.611delA	c.(610-612)aacfs	p.N204fs	ZNF432_ENST00000221315.5_Frame_Shift_Del_p.N204fs			O94892	ZN432_HUMAN	zinc finger protein 432	204					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GCATACGTGGTTTTTTTCTAT	0.383																																						ENST00000594154.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29						c.(610-612)acfs		zinc finger protein 432							88.0	85.0	86.0					19																	52538321		2203	4300	6503	SO:0001589	frameshift_variant	9668				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52538321delT	AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"""Zinc fingers, C2H2-type"", ""-"""	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.611delA	19.37:g.52538321delT	ENSP00000470488:p.Asn204fs					ZNF432_ENST00000221315.5_Frame_Shift_Del_p.N204fs	p.N204fs			O94892	ZN432_HUMAN		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)	5	823	-		all_neural(266;0.117)	204						Frame_Shift_Del	DEL	ENST00000594154.1	37	c.611delA	CCDS12848.1																																																																																				0.383	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462410.1	NM_014650		79	136						79	136	---	---	---	---
FASTKD5	60493	broad.mit.edu	37	20	3128920	3128921	+	Frame_Shift_Ins	INS	-	-	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:3128920_3128921insA	ENST00000380266.3	-	2	1117_1118	c.796_797insT	c.(796-798)tctfs	p.S266fs	UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	266					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						AAGATAACTAGAAAAAATGTTT	0.401																																						ENST00000380266.3																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						c.(796-798)tagfs		FAST kinase domains 5																																				SO:0001589	frameshift_variant	60493				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr20:3128920_3128921insA	BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.797dupT	20.37:g.3128926_3128926dupA	ENSP00000369618:p.Ser266fs					UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	p.*266fs	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN			2	1117_1118	-			266					Q96JN3|Q9H5D1|Q9H8Y3	Frame_Shift_Ins	INS	ENST00000380266.3	37	c.796_797insT	CCDS13048.1																																																																																				0.401	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	NM_021826		8	148						8	148	---	---	---	---
RPRD1B	58490	broad.mit.edu	37	20	36676874	36676874	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:36676874delC	ENST00000373433.4	+	3	808	c.406delC	c.(406-408)cccfs	p.P137fs		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	137					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle process (GO:0010564)|transcription, DNA-templated (GO:0006351)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						CAAGAGCCCTCCCCCCAAAGG	0.473																																						ENST00000373433.4																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						c.(406-408)ccfs		regulation of nuclear pre-mRNA domain containing 1B							84.0	77.0	79.0					20																	36676874		2203	4300	6503	SO:0001589	frameshift_variant	58490							g.chr20:36676874delC	AL109823	CCDS13301.1	20q11.21-q12	2012-02-09	2008-08-15	2008-07-28	ENSG00000101413	ENSG00000101413			16209	protein-coding gene	gene with protein product		614694	"""chromosome 20 open reading frame 77"""	C20orf77		22231121	Standard	NM_021215		Approved	dJ1057B20.2, DKFZp434P0735, CREPT, FLJ44520, NET60	uc002xho.4	Q9NQG5	OTTHUMG00000032434	ENST00000373433.4:c.406delC	20.37:g.36676874delC	ENSP00000362532:p.Pro137fs						p.P137fs	NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN			3	808	+			137					Q1WDE7|Q6PKF4	Frame_Shift_Del	DEL	ENST00000373433.4	37	c.406delC	CCDS13301.1																																																																																				0.473	RPRD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079142.2	NM_021215		17	122						17	122	---	---	---	---
TNFRSF6B	8771	broad.mit.edu	37	20	62328715	62328715	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:62328715delC	ENST00000369996.1	+	2	559	c.459delC	c.(457-459)tgcfs	p.C153fs	ARFRP1_ENST00000485858.1_5'Flank|RTEL1-TNFRSF6B_ENST00000482936.1_3'UTR	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy	153					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	extracellular space (GO:0005615)	receptor activity (GO:0004872)			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			GCCAGCCGTGCCCCCCAGGCA	0.667																																						ENST00000369996.1																			0				central_nervous_system(1)|lung(2)|skin(1)	4						c.(457-459)tgfs		tumor necrosis factor receptor superfamily, member 6b, decoy							32.0	29.0	30.0					20																	62328715		2183	4282	6465	SO:0001589	frameshift_variant	8771				anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity	g.chr20:62328715delC	AF104419	CCDS13532.1	20q13.33	2012-06-27						"""Tumor necrosis factor receptor superfamily"""	11921	protein-coding gene	gene with protein product		603361				9872321, 10318773	Standard	NM_003823		Approved	DcR3, DCR3, TR6, M68	uc002yfz.3	O95407	OTTHUMG00000143724	ENST00000369996.1:c.459delC	20.37:g.62328715delC	ENSP00000359013:p.Cys153fs					RTEL1-TNFRSF6B_ENST00000482936.1_3'UTR	p.C153fs	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)		2	559	+	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		153						Frame_Shift_Del	DEL	ENST00000369996.1	37	c.459delC	CCDS13532.1																																																																																				0.667	TNFRSF6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080182.1			13	25						13	25	---	---	---	---
KLHDC7B	113730	broad.mit.edu	37	22	50988067	50988068	+	Frame_Shift_Ins	INS	-	-	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr22:50988067_50988068insG	ENST00000395676.2	+	1	1606_1607	c.1472_1473insG	c.(1471-1476)ctggggfs	p.LG491fs	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	491										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ATCGTGGCACTGGGGGGCTTCC	0.668																																						ENST00000395676.2																			0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14						c.(1471-1473)cggfs		kelch domain containing 7B																																				SO:0001589	frameshift_variant	113730							g.chr22:50988067_50988068insG	BC009980	CCDS14097.2	22q13.33	2006-11-29		2005-12-13	ENSG00000130487	ENSG00000130487			25145	protein-coding gene	gene with protein product							Standard	NM_138433		Approved	MGC16635	uc003bmi.3	Q96G42	OTTHUMG00000150250	ENST00000395676.2:c.1478dupG	22.37:g.50988073_50988073dupG	ENSP00000379034:p.Leu491fs						p.R491fs	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	1	1606_1607	+		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	491						Frame_Shift_Ins	INS	ENST00000395676.2	37	c.1472_1473insG	CCDS14097.2																																																																																				0.668	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317089.2	NM_138433		23	92						23	92	---	---	---	---
SHANK3	85358	broad.mit.edu	37	22	51159932	51159933	+	Frame_Shift_Ins	INS	-	-	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr22:51159932_51159933insG	ENST00000414786.2	+	21	3856_3857	c.3629_3630insG	c.(3628-3633)ctggggfs	p.LG1210fs	SHANK3_ENST00000262795.3_Frame_Shift_Ins_p.LG1240fs|SHANK3_ENST00000445220.2_Frame_Shift_Ins_p.LG1226fs			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	1224					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CCCAGCAGGCTGGGGGGGGCCG	0.718																																						ENST00000414786.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8						c.(3628-3630)cggfs		SH3 and multiple ankyrin repeat domains 3																																				SO:0001589	frameshift_variant	85358							g.chr22:51159932_51159933insG	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.3637dupG	22.37:g.51159940_51159940dupG	ENSP00000464552:p.Leu1210fs					SHANK3_ENST00000445220.2_Frame_Shift_Ins_p.R1226fs|SHANK3_ENST00000262795.3_Frame_Shift_Ins_p.R1240fs	p.R1210fs			F2Z3L0	F2Z3L0_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.22)	21	3856_3857	+		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	1240					D7UT47|Q8TET3	Frame_Shift_Ins	INS	ENST00000414786.2	37	c.3629_3630insG																																																																																					0.718	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		5	5						5	5	---	---	---	---
UBQLN2	29978	broad.mit.edu	37	X	56591874	56591874	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chrX:56591874delC	ENST00000338222.5	+	1	1849	c.1568delC	c.(1567-1569)gccfs	p.A523fs		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	523	12 X 3 AA tandem repeats of P-X-X.				cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P525fs*71(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						GGCCCTGCAGCCCCCCCTGGC	0.642																																					Esophageal Squamous(104;218 1492 6022 10838 28884)	ENST00000338222.5																			1	Deletion - Frameshift(1)	p.P525fs*71(1)	large_intestine(1)	breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						c.(1567-1569)gcfs		ubiquilin 2							8.0	9.0	8.0					X																	56591874		2158	4239	6397	SO:0001589	frameshift_variant	29978					cytoplasm|nucleus|plasma membrane	binding	g.chrX:56591874delC	AF189009	CCDS14374.1	Xp11.21	2014-09-17			ENSG00000188021	ENSG00000188021		"""Ubiquilin family"""	12509	protein-coding gene	gene with protein product	"""NEDD4 binding protein 4"""	300264				10675567	Standard	NM_013444		Approved	Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2	uc004dus.3	Q9UHD9	OTTHUMG00000021669	ENST00000338222.5:c.1568delC	X.37:g.56591874delC	ENSP00000345195:p.Ala523fs						p.A523fs	NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN			1	1849	+			523			12 X 3 AA tandem repeats of P-X-X.		O94798|Q5D027|Q9H3W6|Q9HAZ4	Frame_Shift_Del	DEL	ENST00000338222.5	37	c.1568delC	CCDS14374.1																																																																																				0.642	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056891.1	NM_013444		8	10						8	10	---	---	---	---
FAM133A	286499	broad.mit.edu	37	X	92964568	92964569	+	Frame_Shift_Ins	INS	-	-	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chrX:92964568_92964569insA	ENST00000355813.5	+	4	676_677	c.150_151insA	c.(151-153)aaafs	p.K51fs	FAM133A_ENST00000322139.4_Frame_Shift_Ins_p.K51fs|FAM133A_ENST00000332647.4_Frame_Shift_Ins_p.K51fs|FAM133A_ENST00000538690.1_Frame_Shift_Ins_p.K51fs	NM_001171109.1|NM_173698.2	NP_001164580.1|NP_775969.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	51	Lys-rich.									breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						AATTAGAAAATAAAAAAACAGG	0.351																																						ENST00000538690.1																			0				breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						c.(148-153)aaaaaafs		family with sequence similarity 133, member A																																				SO:0001589	frameshift_variant	286499							g.chrX:92964568_92964569insA	AK094978	CCDS14466.1	Xq21.32	2010-05-04			ENSG00000179083	ENSG00000179083			26748	protein-coding gene	gene with protein product	"""cancer/testis antigen 115"""						Standard	NM_173698		Approved	RP1-32F7.2, FLJ37659, CT115	uc022bzv.1	Q8N9E0	OTTHUMG00000021975	ENST00000355813.5:c.157dupA	X.37:g.92964575_92964575dupA	ENSP00000348067:p.Lys51fs					FAM133A_ENST00000355813.5_Frame_Shift_Ins_p.KK50fs|FAM133A_ENST00000332647.4_Frame_Shift_Ins_p.KK50fs|FAM133A_ENST00000322139.4_Frame_Shift_Ins_p.KK50fs	p.KK50fs	NM_001171110.1	NP_001164581.1	Q8N9E0	F133A_HUMAN			5	711_712	+			50			Lys-rich.			Frame_Shift_Ins	INS	ENST00000355813.5	37	c.150_151insA	CCDS14466.1																																																																																				0.351	FAM133A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057452.1	NM_173698		15	17						15	17	---	---	---	---
BCORL1	63035	broad.mit.edu	37	X	129190011	129190011	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chrX:129190011delC	ENST00000218147.7	+	13	5233	c.5036delC	c.(5035-5037)tccfs	p.S1679fs	BCORL1_ENST00000303743.5_Frame_Shift_Del_p.S1753fs|BCORL1_ENST00000540052.1_Frame_Shift_Del_p.S1679fs|BCORL1_ENST00000359304.2_Frame_Shift_Del_p.S1549fs			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1679					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GACGACAGATCCCCCCCAGGC	0.602																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(5035-5037)tcfs		BCL6 corepressor-like 1																																				SO:0001589	frameshift_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129190011delC	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.5036delC	X.37:g.129190011delC	ENSP00000218147:p.Ser1679fs					BCORL1_ENST00000303743.5_Frame_Shift_Del_p.S1753fs|BCORL1_ENST00000218147.7_Frame_Shift_Del_p.S1679fs|BCORL1_ENST00000359304.2_Frame_Shift_Del_p.S1549fs	p.S1679fs	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			12	5080	+			1679					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Frame_Shift_Del	DEL	ENST00000218147.7	37	c.5036delC	CCDS14616.1																																																																																				0.602	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		48	11						48	11	---	---	---	---
