#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
CNOT3	4849	broad.mit.edu	37	19	54646887	54646887	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr19:54646887G>A	ENST00000406403.1	+	2	1661	c.58G>A	c.(58-60)Gag>Aag	p.E20K	CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.E20K			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	20					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)		p.E20K(6)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GAAGGTGTCCGAGGGCGTGGA	0.557																																						ENST00000406403.1																			6	Substitution - Missense(6)	p.E20K(6)	prostate(4)|urinary_tract(1)|haematopoietic_and_lymphoid_tissue(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.(58-60)Gag>Aag		CCR4-NOT transcription complex, subunit 3							171.0	172.0	171.0					19																	54646887		2203	4300	6503	SO:0001583	missense	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54646887G>A	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.58G>A	19.37:g.54646887G>A	ENSP00000383954:p.Glu20Lys					CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.E20K	p.E20K			O75175	CNOT3_HUMAN			2	1661	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		20					Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	c.58G>A	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	G	35	5.507003	0.96386	.	.	ENSG00000088038	ENST00000221232;ENST00000406403	T;T	0.72725	-0.68;-0.68	5.04	5.04	0.67666	Not CCR4-Not complex component, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85788	0.5778	M	0.85299	2.745	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.993	D	0.88178	0.2869	10	0.87932	D	0	-31.302	17.5375	0.87837	0.0:0.0:1.0:0.0	.	20;20	B7Z6J7;O75175	.;CNOT3_HUMAN	K	20	ENSP00000221232:E20K;ENSP00000383954:E20K	ENSP00000221232:E20K	E	+	1	0	CNOT3	59338699	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.832000	0.92079	2.512000	0.84698	0.655000	0.94253	GAG		0.557	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		19	241	0	0	0	1	0	19	241				
AKT1	207	broad.mit.edu	37	14	105246551	105246551	+	Missense_Mutation	SNP	C	C	T	rs34409589|rs121434592		TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr14:105246551C>T	ENST00000554581.1	-	2	1529	c.49G>A	c.(49-51)Gag>Aag	p.E17K	AKT1_ENST00000407796.2_Missense_Mutation_p.E17K|AKT1_ENST00000544168.1_5'Flank|AKT1_ENST00000349310.3_Missense_Mutation_p.E17K|AKT1_ENST00000402615.2_Missense_Mutation_p.E17K|AKT1_ENST00000554848.1_Missense_Mutation_p.E17K|AKT1_ENST00000555528.1_Missense_Mutation_p.E17K			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	17	Inositol-(1,3,4,5)-tetrakisphosphate binding.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.		E -> K (in PROTEUSS and breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; results in increased phosphorylation at T-308 and higher basal ubiquitination; the mutant protein is more efficiently recruited to the plasma membrane; alters phosphatidylinositiol phosphates lipid specificity of the AKT1 PH domain; dbSNP:rs121434592). {ECO:0000269|PubMed:17611497, ECO:0000269|PubMed:21793738}.		activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.E17K(102)		NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TTGATGTACTCCCCTACAGAC	0.612	E17K(KU1919_URINARY_TRACT)	1	Mis		"""breast, colorectal, ovarian, NSCLC"""																																	ENST00000554581.1	E17K(KU1919_URINARY_TRACT)	1		Dom	yes		14	14q32.32	207	Mis	v-akt murine thymoma viral oncogene homolog 1			E			"""breast, colorectal, ovarian, NSCLC"""		102	Substitution - Missense(102)	p.E17K(102)	breast(49)|urinary_tract(14)|thyroid(10)|endometrium(10)|lung(7)|large_intestine(4)|prostate(4)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1)	NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176						c.(49-51)Gag>Aag		v-akt murine thymoma viral oncogene homolog 1	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)						130.0	93.0	106.0					14																	105246551		2203	4300	6503	SO:0001583	missense	207				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	g.chr14:105246551C>T	M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.49G>A	14.37:g.105246551C>T	ENSP00000451828:p.Glu17Lys					AKT1_ENST00000402615.2_Missense_Mutation_p.E17K|AKT1_ENST00000349310.3_Missense_Mutation_p.E17K|AKT1_ENST00000554848.1_Missense_Mutation_p.E17K|AKT1_ENST00000555528.1_Missense_Mutation_p.E17K|AKT1_ENST00000407796.2_Missense_Mutation_p.E17K	p.E17K			P31749	AKT1_HUMAN	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	2	1529	-		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	17		E -> K (in breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; alters the PH domain conformation; results in activation of the protein; alters the subcellular location of the protein to the plasma membrane).	PH.		B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	ENST00000554581.1	37	c.49G>A	CCDS9994.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458989	0.84317	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000554848;ENST00000555926	T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17	4.61	4.61	0.57282	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.59838	0.2223	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64411	-0.6414	10	0.72032	D	0.01	.	16.1757	0.81847	0.0:1.0:0.0:0.0	.	17	P31749	AKT1_HUMAN	K	17	ENSP00000451828:E17K;ENSP00000384293:E17K;ENSP00000270202:E17K;ENSP00000385326:E17K;ENSP00000450688:E17K;ENSP00000451166:E17K;ENSP00000451824:E17K	ENSP00000270202:E17K	E	-	1	0	AKT1	104317596	1.000000	0.71417	0.639000	0.29394	0.296000	0.27459	7.347000	0.79356	2.395000	0.81488	0.462000	0.41574	GAG		0.612	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	NM_005163		7	19	0	0	0	1	0	7	19				
PCDH17	27253	broad.mit.edu	37	13	58299273	58299273	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr13:58299273C>T	ENST00000377918.3	+	4	3351	c.3325C>T	c.(3325-3327)Cgg>Tgg	p.R1109W		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1109					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R1109W(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CAGAGCCAGCCGGGATTCCAG	0.522																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			1	Substitution - Missense(1)	p.R1109W(1)	prostate(1)	breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(3325-3327)Cgg>Tgg		protocadherin 17							156.0	158.0	157.0					13																	58299273		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58299273C>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.3325C>T	13.37:g.58299273C>T	ENSP00000367151:p.Arg1109Trp						p.R1109W	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	4	3351	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	1109					A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.3325C>T	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.372560	0.42003	.	.	ENSG00000118946	ENST00000377918	T	0.53206	0.63	6.07	5.21	0.72293	.	0.061511	0.64402	D	0.000002	T	0.41511	0.1162	N	0.22421	0.69	0.51233	D	0.999916	D	0.69078	0.997	P	0.47470	0.548	T	0.22068	-1.0227	9	.	.	.	.	16.3571	0.83239	0.1367:0.8633:0.0:0.0	.	1109	O14917	PCD17_HUMAN	W	1109	ENSP00000367151:R1109W	.	R	+	1	2	PCDH17	57197274	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.801000	0.55545	1.515000	0.48885	0.655000	0.94253	CGG		0.522	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		12	285	0	0	0	1	0	12	285				
ETV3	2117	broad.mit.edu	37	1	157104014	157104014	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr1:157104014T>C	ENST00000368192.4	-	4	354	c.290A>G	c.(289-291)tAt>tGt	p.Y97C	ETV3_ENST00000460850.1_5'Flank|ETV3_ENST00000326786.4_Missense_Mutation_p.Y97C	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	97					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.Y97C(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				CTTGTTGTAATAGTATCTGTA	0.368																																						ENST00000368192.4																			2	Substitution - Missense(2)	p.Y97C(2)	prostate(2)	breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9						c.(289-291)tAt>tGt		ets variant 3							154.0	127.0	136.0					1																	157104014		2203	4300	6503	SO:0001583	missense	2117						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157104014T>C	BC022868	CCDS1164.1, CCDS44250.1	1q21-q23	2008-09-12	2008-09-12		ENSG00000117036	ENSG00000117036			3492	protein-coding gene	gene with protein product		164873	"""ets variant gene 3, ETS family transcriptional repressor"", ""ets variant gene 3"""			8020980	Standard	NM_005240		Approved	PE-1	uc001fqr.2	P41162	OTTHUMG00000034298	ENST00000368192.4:c.290A>G	1.37:g.157104014T>C	ENSP00000357175:p.Tyr97Cys					ETV3_ENST00000326786.4_Missense_Mutation_p.Y97C	p.Y97C	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN			4	354	-	Hepatocellular(266;0.158)	Prostate(1639;0.174)	97					B4E3M7|Q8TAC8|Q9BX30	Missense_Mutation	SNP	ENST00000368192.4	37	c.290A>G	CCDS44250.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.467197	0.84533	.	.	ENSG00000117036	ENST00000368192;ENST00000326786	T;T	0.45668	0.89;0.89	6.06	6.06	0.98353	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (5);	0.000000	0.64402	D	0.000009	T	0.63094	0.2482	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70292	-0.4912	10	0.87932	D	0	.	15.598	0.76602	0.0:0.0:0.0:1.0	.	97;97	P41162-2;P41162	.;ETV3_HUMAN	C	97	ENSP00000357175:Y97C;ENSP00000327316:Y97C	ENSP00000327316:Y97C	Y	-	2	0	ETV3	155370638	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.987000	0.88182	2.315000	0.78130	0.533000	0.62120	TAT		0.368	ETV3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082843.2	NM_005240		9	90	0	0	0	1	0	9	90				
INTS9	55756	broad.mit.edu	37	8	28633369	28633369	+	Silent	SNP	G	G	A			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr8:28633369G>A	ENST00000521022.1	-	14	1551	c.1470C>T	c.(1468-1470)atC>atT	p.I490I	INTS9_ENST00000521070.1_5'Flank|INTS9_ENST00000397363.4_Silent_p.I384I|INTS9_ENST00000416984.2_Silent_p.I469I|INTS9_ENST00000521777.1_Silent_p.I466I	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	490					snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)		p.I490I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		GCTGGCAGTCGATCATGAGGT	0.612																																						ENST00000416984.2																			1	Substitution - coding silent(1)	p.I490I(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19						c.(1405-1407)atC>atT		integrator complex subunit 9							53.0	55.0	54.0					8																	28633369		2203	4300	6503	SO:0001819	synonymous_variant	55756				snRNA processing	integrator complex	protein binding	g.chr8:28633369G>A	BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.1470C>T	8.37:g.28633369G>A						INTS9_ENST00000521777.1_Silent_p.I466I|INTS9_ENST00000521022.1_Silent_p.I490I|INTS9_ENST00000397363.4_Silent_p.I384I	p.I469I	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)	13	1766	-		Ovarian(32;0.0439)	490					B7Z560|B7Z6M5|O00224|Q8TB16	Silent	SNP	ENST00000521022.1	37	c.1407C>T	CCDS34873.1																																																																																				0.612	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376846.1	NM_018250		4	53	0	0	0	1	0	4	53				
OR5AS1	219447	broad.mit.edu	37	11	55798258	55798258	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr11:55798258C>T	ENST00000313555.1	+	1	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	122			R -> L (in dbSNP:rs12224086).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R122C(3)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GGCTTATGACCGCTATGCAGC	0.458																																						ENST00000313555.1																			3	Substitution - Missense(3)	p.R122C(3)	prostate(1)|lung(1)|endometrium(1)	endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48						c.(364-366)Cgc>Tgc		olfactory receptor, family 5, subfamily AS, member 1							131.0	107.0	115.0					11																	55798258		2201	4296	6497	SO:0001583	missense	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798258C>T	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.364C>T	11.37:g.55798258C>T	ENSP00000324111:p.Arg122Cys						p.R122C	NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN			1	364	+	Esophageal squamous(21;0.00693)		122		R -> L (in dbSNP:rs12224086).			Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	c.364C>T	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.639971	0.29157	.	.	ENSG00000181785	ENST00000313555	T	0.77358	-1.09	5.46	5.46	0.80206	GPCR, rhodopsin-like superfamily (1);	0.224065	0.22821	U	0.055229	T	0.77772	0.4180	M	0.79123	2.44	0.43471	D	0.995682	B	0.33135	0.399	B	0.23275	0.045	T	0.79867	-0.1622	10	0.72032	D	0.01	.	17.8641	0.88791	0.0:1.0:0.0:0.0	.	122	Q8N127	O5AS1_HUMAN	C	122	ENSP00000324111:R122C	ENSP00000324111:R122C	R	+	1	0	OR5AS1	55554834	0.508000	0.26154	1.000000	0.80357	0.157000	0.22087	0.829000	0.27449	2.557000	0.86248	0.643000	0.83706	CGC		0.458	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		11	127	0	0	0	1	0	11	127				
CNTNAP5	129684	broad.mit.edu	37	2	125521376	125521376	+	Splice_Site	SNP	C	C	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr2:125521376C>T	ENST00000431078.1	+	15	2723	c.2359C>T	c.(2359-2361)Cga>Tga	p.R787*		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	787	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.R787*(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTATGGTGACCGTGAGTACAA	0.458																																						ENST00000431078.1																			2	Substitution - Nonsense(2)	p.R787*(2)	prostate(2)	NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.e15+1		contactin associated protein-like 5							77.0	74.0	75.0					2																	125521376		1925	4128	6053	SO:0001630	splice_region_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125521376C>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2359+1C>T	2.37:g.125521376C>T							p.R787_splice	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	15	2723	+			787			Fibrinogen C-terminal.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Splice_Site	SNP	ENST00000431078.1	37	c.2359_splice	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	43	10.478080	0.99412	.	.	ENSG00000155052	ENST00000431078	.	.	.	5.57	2.51	0.30379	.	0.000000	0.41938	D	0.000791	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3034	0.60338	0.5999:0.4001:0.0:0.0	.	.	.	.	X	787	.	ENSP00000399013:R787X	R	+	1	2	CNTNAP5	125237846	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.036000	0.49767	0.780000	0.33566	0.655000	0.94253	CGA		0.458	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		Nonsense_Mutation	11	56	0	0	0	1	0	11	56				
NELL1	4745	broad.mit.edu	37	11	21596534	21596534	+	Missense_Mutation	SNP	G	G	T	rs370198210		TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr11:21596534G>T	ENST00000357134.5	+	20	2551	c.2399G>T	c.(2398-2400)tGt>tTt	p.C800F	NELL1_ENST00000532434.1_Missense_Mutation_p.C753F|NELL1_ENST00000298925.5_Missense_Mutation_p.C828F|NELL1_ENST00000325319.5_Missense_Mutation_p.C743F|NELL1_ENST00000529218.1_3'UTR	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	800					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)	p.C800F(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AGAGTCTGTTGTTCTGTGGAT	0.358																																						ENST00000298925.5																			1	Substitution - Missense(1)	p.C800F(1)	prostate(1)	NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						c.(2482-2484)tGt>tTt		NEL-like 1 (chicken)		G	PHE/CYS,PHE/CYS	0,4406		0,0,2203	186.0	168.0	174.0		2399,2258	6.2	1.0	11		174	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	NELL1	NM_006157.3,NM_201551.1	205,205	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	800/811,753/764	21596534	1,13005	2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21596534G>T	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.2399G>T	11.37:g.21596534G>T	ENSP00000349654:p.Cys800Phe					NELL1_ENST00000325319.5_Missense_Mutation_p.C743F|NELL1_ENST00000532434.1_Missense_Mutation_p.C753F|NELL1_ENST00000357134.5_Missense_Mutation_p.C800F|NELL1_ENST00000529218.1_3'UTR	p.C828F			Q92832	NELL1_HUMAN			21	2636	+			800					B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.2483G>T	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.304783	0.81247	0.0	1.16E-4	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.80994	-1.43;-1.44;-1.32;-1.33	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.90366	0.6985	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D	0.89917	0.998;0.996;0.998;1.0;0.996	D;P;D;D;P	0.97110	0.93;0.853;0.921;1.0;0.853	D	0.89891	0.4037	10	0.87932	D	0	-12.8009	20.8794	0.99867	0.0:0.0:1.0:0.0	.	743;828;345;753;800	F5H6I3;B3KXR2;Q8N9Z6;Q92832-2;Q92832	.;.;.;.;NELL1_HUMAN	F	828;800;743;753	ENSP00000298925:C828F;ENSP00000349654:C800F;ENSP00000317837:C743F;ENSP00000437170:C753F	ENSP00000298925:C828F	C	+	2	0	NELL1	21553110	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.916000	0.92745	2.941000	0.99782	0.655000	0.94253	TGT		0.358	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		3	87	1	0	0.00024832	1	0.000268386	3	87				
AFF2	2334	broad.mit.edu	37	X	148037365	148037365	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chrX:148037365G>A	ENST00000370460.2	+	11	2269	c.1790G>A	c.(1789-1791)cGt>cAt	p.R597H	AFF2_ENST00000370457.5_Missense_Mutation_p.R564H|AFF2_ENST00000342251.3_Missense_Mutation_p.R564H|AFF2_ENST00000286437.5_Missense_Mutation_p.R238H	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	597					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.R597H(3)|p.R238H(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GAGAAAGCCCGTCCACGGCCC	0.468																																						ENST00000370460.2																			4	Substitution - Missense(4)	p.R597H(3)|p.R238H(1)	prostate(4)	breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(1789-1791)cGt>cAt		AF4/FMR2 family, member 2							97.0	100.0	99.0					X																	148037365		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148037365G>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1790G>A	X.37:g.148037365G>A	ENSP00000359489:p.Arg597His					AFF2_ENST00000342251.3_Missense_Mutation_p.R564H|AFF2_ENST00000370457.5_Missense_Mutation_p.R564H|AFF2_ENST00000286437.5_Missense_Mutation_p.R238H	p.R597H	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			11	2269	+	Acute lymphoblastic leukemia(192;6.56e-05)		597					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.1790G>A	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.035694	0.35893	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.5	4.62	0.57501	.	0.064020	0.64402	D	0.000009	T	0.72447	0.3461	M	0.77313	2.365	0.29780	N	0.83405	D;D;D;D;D;D	0.58620	0.983;0.979;0.979;0.979;0.979;0.983	P;P;P;P;P;P	0.55087	0.685;0.557;0.557;0.557;0.657;0.768	T	0.71533	-0.4564	10	0.49607	T	0.09	.	4.3047	0.10940	0.2164:0.1943:0.5893:0.0	.	238;562;564;558;587;597	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	H	597;564;564;238	ENSP00000359489:R597H;ENSP00000359486:R564H;ENSP00000345459:R564H;ENSP00000286437:R238H	ENSP00000286437:R238H	R	+	2	0	AFF2	147845065	1.000000	0.71417	0.632000	0.29296	0.000000	0.00434	4.345000	0.59360	1.074000	0.40909	-0.283000	0.09986	CGT		0.468	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		27	113	0	0	0	1	0	27	113				
NBEAL1	65065	broad.mit.edu	37	2	204039932	204039932	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr2:204039932C>G	ENST00000449802.1	+	41	6632	c.6299C>G	c.(6298-6300)tCa>tGa	p.S2100*		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2100	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.							p.S2100*(1)|p.S810*(1)		NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ACTCACTATTCAAATTCTGCG	0.383																																						ENST00000449802.1																			2	Substitution - Nonsense(2)	p.S2100*(1)|p.S810*(1)	prostate(2)	NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(6298-6300)tCa>tGa		neurobeachin-like 1							103.0	101.0	102.0					2																	204039932		1848	4082	5930	SO:0001587	stop_gained	65065						binding	g.chr2:204039932C>G	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.6299C>G	2.37:g.204039932C>G	ENSP00000399903:p.Ser2100*						p.S2100*	NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN			41	6632	+			2100			BEACH.		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Nonsense_Mutation	SNP	ENST00000449802.1	37	c.6299C>G	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	C	50	16.314626	0.99860	.	.	ENSG00000144426	ENST00000449802;ENST00000340268;ENST00000414576	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.922	0.97089	0.0:1.0:0.0:0.0	.	.	.	.	X	2100;2100;115	.	ENSP00000344985:S2100X	S	+	2	0	NBEAL1	203748177	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.794000	0.96219	0.650000	0.86243	TCA		0.383	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			7	168	0	0	0	1	0	7	168				
STK26	51765	broad.mit.edu	37	X	131207114	131207114	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chrX:131207114T>A	ENST00000354719.6	+	10	1363	c.1147T>A	c.(1147-1149)Ttt>Att	p.F383I	MST4_ENST00000496850.1_Missense_Mutation_p.F345I|MST4_ENST00000394334.2_Missense_Mutation_p.F407I|MST4_ENST00000481105.1_Missense_Mutation_p.F429I|MST4_ENST00000394335.2_Missense_Mutation_p.F330I														p.F407I(1)		endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					AATTGAAAAATTTCAAAAGTA	0.343																																						ENST00000394334.2																			1	Substitution - Missense(1)	p.F407I(1)	prostate(1)	endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(1219-1221)Ttt>Att									48.0	53.0	51.0					X																	131207114		2169	4256	6425	SO:0001583	missense	0				cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:131207114T>A																												ENST00000354719.6:c.1147T>A	X.37:g.131207114T>A	ENSP00000346755:p.Phe383Ile					MST4_ENST00000354719.6_Missense_Mutation_p.F383I|MST4_ENST00000496850.1_Missense_Mutation_p.F345I|MST4_ENST00000394335.2_Missense_Mutation_p.F330I|MST4_ENST00000481105.1_Missense_Mutation_p.F429I	p.F407I	NM_016542.3	NP_057626.2	Q9P289	MST4_HUMAN			11	1472	+	Acute lymphoblastic leukemia(192;0.000127)		407						Missense_Mutation	SNP	ENST00000354719.6	37	c.1219T>A		.	.	.	.	.	.	.	.	.	.	t	13.05	2.121967	0.37436	.	.	ENSG00000134602	ENST00000394334;ENST00000481105;ENST00000354719;ENST00000394335;ENST00000496850	T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000002	T	0.22513	0.0543	L	0.38531	1.155	0.33057	D	0.533502	B;B;B;B;B	0.24186	0.004;0.002;0.099;0.006;0.002	B;B;B;B;B	0.25291	0.005;0.004;0.059;0.012;0.005	T	0.21381	-1.0247	10	0.23891	T	0.37	.	14.9086	0.70737	0.0:0.0:0.0:1.0	.	429;383;345;330;407	B4E0Y9;Q8NBY1;Q9P289-3;Q9P289-2;Q9P289	.;.;.;.;MST4_HUMAN	I	407;429;383;330;345	ENSP00000377867:F407I;ENSP00000418753:F429I;ENSP00000346755:F383I;ENSP00000377868:F330I;ENSP00000419702:F345I	ENSP00000346755:F383I	F	+	1	0	AL109749.1	131034795	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	4.491000	0.60326	1.903000	0.55091	0.422000	0.28245	TTT		0.343	MST4-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000058308.2			3	66	0	0	0	1	0	3	66				
MDN1	23195	broad.mit.edu	37	6	90382073	90382073	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr6:90382073T>C	ENST00000369393.3	-	82	13755	c.13640A>G	c.(13639-13641)gAg>gGg	p.E4547G	RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000468568.1_5'UTR|MDN1_ENST00000428876.1_Missense_Mutation_p.E4547G			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4547					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.E4547G(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTGCAGTCTCTCAAAGCCTGC	0.398																																						ENST00000369393.3																			1	Substitution - Missense(1)	p.E4547G(1)	prostate(1)	NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(13639-13641)gAg>gGg		MDN1, midasin homolog (yeast)							97.0	91.0	93.0					6																	90382073		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90382073T>C	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.13640A>G	6.37:g.90382073T>C	ENSP00000358400:p.Glu4547Gly					MDN1_ENST00000468568.1_5'UTR|MDN1_ENST00000428876.1_Missense_Mutation_p.E4547G	p.E4547G			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	82	13755	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	4547					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.13640A>G	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	T	14.59	2.581477	0.46006	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.32023	1.47;1.47	6.06	6.06	0.98353	.	0.132302	0.51477	D	0.000097	T	0.16214	0.0390	L	0.59436	1.845	0.34587	D	0.715134	P	0.39665	0.682	B	0.30401	0.115	T	0.10870	-1.0611	10	0.28530	T	0.3	.	16.6093	0.84858	0.0:0.0:0.0:1.0	.	4547	Q9NU22	MDN1_HUMAN	G	4547	ENSP00000358400:E4547G;ENSP00000413970:E4547G	ENSP00000358400:E4547G	E	-	2	0	MDN1	90438794	0.900000	0.30661	1.000000	0.80357	0.850000	0.48378	3.096000	0.50243	2.324000	0.78689	0.533000	0.62120	GAG		0.398	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			3	139	0	0	0	1	0	3	139				
SALL3	27164	broad.mit.edu	37	18	76755287	76755287	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr18:76755287C>A	ENST00000537592.2	+	2	3296	c.3296C>A	c.(3295-3297)gCg>gAg	p.A1099E	SALL3_ENST00000536229.3_Missense_Mutation_p.A894E|SALL3_ENST00000575389.2_Missense_Mutation_p.A1027E	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1099					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A1099E(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCGGGCCTGGCGCCCATGCTG	0.736																																						ENST00000536229.3																			2	Substitution - Missense(2)	p.A1099E(2)	prostate(2)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(2680-2682)gCg>gAg		spalt-like transcription factor 3							7.0	8.0	8.0					18																	76755287		2108	4051	6159	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76755287C>A	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.3296C>A	18.37:g.76755287C>A	ENSP00000441823:p.Ala1099Glu					SALL3_ENST00000575389.2_Missense_Mutation_p.A1027E|SALL3_ENST00000537592.2_Missense_Mutation_p.A1099E	p.A894E			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	3390	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	1099					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.2681C>A	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910901	0.52439	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.09255	3.0	5.23	5.23	0.72850	.	0.342769	0.23496	N	0.047558	T	0.09686	0.0238	N	0.19112	0.55	0.29820	N	0.830932	P;B	0.37573	0.6;0.135	B;B	0.37346	0.247;0.06	T	0.06607	-1.0817	10	0.32370	T	0.25	-11.3744	18.4243	0.90604	0.0:1.0:0.0:0.0	.	759;1099	F5GXY4;Q9BXA9	.;SALL3_HUMAN	E	1099;1027;759	ENSP00000441823:A1099E	ENSP00000299466:A1099E	A	+	2	0	SALL3	74856275	0.997000	0.39634	0.031000	0.17742	0.080000	0.17528	3.803000	0.55560	2.433000	0.82419	0.655000	0.94253	GCG		0.736	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		2	5	1	0	0.0016	1	0.001712	2	5				
RAD21	5885	broad.mit.edu	37	8	117878924	117878924	+	Silent	SNP	G	G	A			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr8:117878924G>A	ENST00000297338.2	-	2	332	c.45C>T	c.(43-45)gcC>gcT	p.A15A	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	15					apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.A15A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					GCCAAATTTTGGCCAGAGGCC	0.433																																						ENST00000297338.2																			1	Substitution - coding silent(1)	p.A15A(1)	prostate(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32						c.(43-45)gcC>gcT		RAD21 homolog (S. pombe)							46.0	46.0	46.0					8																	117878924		2203	4299	6502	SO:0001819	synonymous_variant	5885				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding	g.chr8:117878924G>A	BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"""sister chromatid cohesion 1"""	606462	"""RAD21 (S. pombe) homolog"""			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.45C>T	8.37:g.117878924G>A						RAD21_ENST00000523547.1_5'UTR	p.A15A	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN			2	332	-	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)		15					A8K0E0|Q15001|Q99568	Silent	SNP	ENST00000297338.2	37	c.45C>T	CCDS6321.1																																																																																				0.433	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	NM_006265		3	85	0	0	0	1	0	3	85				
KCNA3	3738	broad.mit.edu	37	1	111216034	111216034	+	Silent	SNP	G	G	A			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr1:111216034G>A	ENST00000369769.2	-	1	1621	c.1398C>T	c.(1396-1398)atC>atT	p.I466I		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	466					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)	p.I466I(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	AGACACCGGCGATGGCACAGA	0.527																																						ENST00000369769.2																			1	Substitution - coding silent(1)	p.I466I(1)	prostate(1)	endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38						c.(1396-1398)atC>atT		potassium voltage-gated channel, shaker-related subfamily, member 3							104.0	84.0	91.0					1																	111216034		2203	4300	6503	SO:0001819	synonymous_variant	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111216034G>A	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.1398C>T	1.37:g.111216034G>A							p.I466I	NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	1621	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	466					Q5VWN2	Silent	SNP	ENST00000369769.2	37	c.1398C>T	CCDS828.2																																																																																				0.527	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		3	96	0	0	0	1	0	3	96				
TVP23C	201158	broad.mit.edu	37	17	15441443	15441443	+	Intron	SNP	A	A	G			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr17:15441443A>G	ENST00000225576.3	-	5	558				TVP23C_ENST00000428082.2_Nonstop_Mutation_p.*206R|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000584811.1_Nonstop_Mutation_p.*142R|TVP23C_ENST00000438826.3_Nonstop_Mutation_p.*206R|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000583206.1_5'Flank	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)							integral component of membrane (GO:0016021)											TTCTCTATTCAGGAAGTCTGA	0.418																																						ENST00000584811.1																			0											c.(424-426)Tga>Cga		trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																																				SO:0001627	intron_variant	201158							g.chr17:15441443A>G	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.462+7655T>C	17.37:g.15441443A>G						TVP23C_ENST00000519970.1_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000225576.3_Intron|TVP23C_ENST00000438826.3_Nonstop_Mutation_p.*206R|TVP23C_ENST00000428082.2_Nonstop_Mutation_p.*206R	p.*142R							7	1839	-								Q3LIC7	Nonstop_Mutation	SNP	ENST00000225576.3	37	c.424T>C	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	.	5.207	0.223648	0.09863	.	.	ENSG00000175106	ENST00000438826	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.40441	D	0.980045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.359	0.43982	1.0:0.0:0.0:0.0	.	.	.	.	R	206	.	.	X	-	1	0	FAM18B2	15382168	0.550000	0.26489	0.119000	0.21687	0.051000	0.14879	3.808000	0.55598	2.002000	0.58637	0.477000	0.44152	TGA		0.418	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301		9	120	0	0	0	1	0	9	120				
SLC10A2	6555	broad.mit.edu	37	13	103698541	103698541	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr13:103698541G>A	ENST00000245312.3	-	6	1585	c.989C>T	c.(988-990)aCg>aTg	p.T330M		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	330					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)	p.T330M(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	CTCTGGCTCCGTTCCATTTTC	0.373																																						ENST00000245312.3																			1	Substitution - Missense(1)	p.T330M(1)	prostate(1)	breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(988-990)aCg>aTg		solute carrier family 10 (sodium/bile acid cotransporter), member 2							144.0	122.0	130.0					13																	103698541		2203	4300	6503	SO:0001583	missense	6555				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	g.chr13:103698541G>A	U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"""Solute carriers"""	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.989C>T	13.37:g.103698541G>A	ENSP00000245312:p.Thr330Met						p.T330M	NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN			6	1585	-	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		330					A1L4F4|Q13839	Missense_Mutation	SNP	ENST00000245312.3	37	c.989C>T	CCDS9506.1	.	.	.	.	.	.	.	.	.	.	G	8.179	0.793384	0.16327	.	.	ENSG00000125255	ENST00000245312	T	0.08634	3.07	5.64	0.843	0.18935	.	0.793165	0.12443	N	0.468447	T	0.04679	0.0127	N	0.19112	0.55	0.09310	N	1	B	0.20780	0.048	B	0.20384	0.029	T	0.43081	-0.9413	10	0.30078	T	0.28	-34.0746	3.3262	0.07067	0.2621:0.0:0.4324:0.3055	.	330	Q12908	NTCP2_HUMAN	M	330	ENSP00000245312:T330M	ENSP00000245312:T330M	T	-	2	0	SLC10A2	102496542	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.079000	0.11357	-0.051000	0.13334	-0.735000	0.03563	ACG		0.373	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1			4	106	0	0	0	1	0	4	106				
DAZAP1	26528	broad.mit.edu	37	19	1418348	1418348	+	Silent	SNP	G	G	A			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr19:1418348G>A	ENST00000233078.4	+	3	377	c.216G>A	c.(214-216)ccG>ccA	p.P72P	DAZAP1_ENST00000586579.1_3'UTR|DAZAP1_ENST00000336761.6_Silent_p.P72P	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	72	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|maternal placenta development (GO:0001893)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCAGACCGCACACGCTAG	0.522																																						ENST00000336761.6																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9						c.(214-216)ccG>ccA		DAZ associated protein 1							63.0	61.0	62.0					19																	1418348		2203	4300	6503	SO:0001819	synonymous_variant	26528				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:1418348G>A		CCDS12065.1, CCDS12066.1	19p13.3	2013-07-16			ENSG00000071626	ENSG00000071626		"""RNA binding motif (RRM) containing"""	2683	protein-coding gene	gene with protein product	"""deleted in azoospermia associated protein 1"""	607430				10857750, 23658607	Standard	XM_005259530		Approved	MGC19907	uc002lsn.3	Q96EP5		ENST00000233078.4:c.216G>A	19.37:g.1418348G>A						DAZAP1_ENST00000586579.1_3'UTR|DAZAP1_ENST00000233078.4_Silent_p.P72P	p.P72P	NM_170711.1	NP_733829.1	Q96EP5	DAZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	421	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	72			RRM 1.		Q96MJ3|Q9NRR9	Silent	SNP	ENST00000233078.4	37	c.216G>A	CCDS12065.1																																																																																				0.522	DAZAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449522.3	NM_170711		4	125	0	0	0	1	0	4	125				
NKX3-1	4824	broad.mit.edu	37	8	23538928	23538928	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr8:23538928A>G	ENST00000380871.4	-	2	548	c.511T>C	c.(511-513)Tgg>Cgg	p.W171R	NKX3-1_ENST00000523261.1_Missense_Mutation_p.W96R	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	171					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|androgen receptor signaling pathway (GO:0030521)|branching involved in prostate gland morphogenesis (GO:0060442)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to steroid hormone stimulus (GO:0071383)|cellular response to tumor necrosis factor (GO:0071356)|dorsal aorta development (GO:0035907)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|heart development (GO:0007507)|male gonad development (GO:0008584)|metanephros development (GO:0001656)|mitotic cell cycle arrest (GO:0071850)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of transcription, DNA-templated (GO:0045892)|pharyngeal system development (GO:0060037)|positive regulation of androgen secretion (GO:2000836)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell death (GO:0010942)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein kinase B signaling (GO:0043491)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|salivary gland development (GO:0007431)|somitogenesis (GO:0001756)|steroid hormone mediated signaling pathway (GO:0043401)	intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|core promoter binding (GO:0001047)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|histone deacetylase binding (GO:0042826)|protein kinase activator activity (GO:0030295)|protein self-association (GO:0043621)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.W171R(1)		large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		TTCTGGAACCATATCTTCACT	0.562																																						ENST00000380871.4																			1	Substitution - Missense(1)	p.W171R(1)	prostate(1)	large_intestine(3)|lung(4)|prostate(5)|skin(2)	14						c.(511-513)Tgg>Cgg		NK3 homeobox 1							185.0	182.0	183.0					8																	23538928		2203	4300	6503	SO:0001583	missense	4824				negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding	g.chr8:23538928A>G		CCDS6042.1, CCDS59095.1	8p21.2	2012-03-09	2007-07-09	2002-10-04	ENSG00000167034	ENSG00000167034		"""Homeoboxes / ANTP class : NKL subclass"""	7838	protein-coding gene	gene with protein product		602041	"""NK homeobox (Drosophila), family 3, A"", ""NK3 transcription factor related, locus 1 (Drosophila)"""	NKX3A		9226374	Standard	NM_006167		Approved	NKX3.1, BAPX2	uc011kzx.2	Q99801	OTTHUMG00000097851	ENST00000380871.4:c.511T>C	8.37:g.23538928A>G	ENSP00000370253:p.Trp171Arg					NKX3-1_ENST00000523261.1_Missense_Mutation_p.W96R	p.W171R	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)	2	548	-		Prostate(55;0.114)	171					O15465|Q9H2P4|Q9H2P5|Q9H2P6|Q9H2P7|Q9HBG0	Missense_Mutation	SNP	ENST00000380871.4	37	c.511T>C	CCDS6042.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.429596	0.83776	.	.	ENSG00000167034	ENST00000380871;ENST00000300332;ENST00000523261	D;D	0.99822	-6.94;-6.94	5.66	5.66	0.87406	Homeobox, eukaryotic (2);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.64402	D	0.000001	D	0.99919	0.9962	H	0.99933	4.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95973	0.8971	10	0.87932	D	0	.	14.1488	0.65367	1.0:0.0:0.0:0.0	.	171	Q99801	NKX31_HUMAN	R	171;127;96	ENSP00000370253:W171R;ENSP00000429729:W96R	ENSP00000300332:W127R	W	-	1	0	NKX3-1	23594873	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.261000	0.95576	2.285000	0.76669	0.533000	0.62120	TGG		0.562	NKX3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215141.2			15	248	0	0	0	1	0	15	248				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		6	81	0	0	0	1	0	6	81				
TTN	7273	broad.mit.edu	37	2	179640233	179640233	+	Missense_Mutation	SNP	G	G	A	rs116158152		TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr2:179640233G>A	ENST00000591111.1	-	28	6582	c.6358C>T	c.(6358-6360)Cgg>Tgg	p.R2120W	TTN_ENST00000342992.6_Missense_Mutation_p.R2120W|TTN_ENST00000359218.5_Missense_Mutation_p.R2074W|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R2120W|TTN_ENST00000360870.5_Missense_Mutation_p.R2120W|TTN_ENST00000342175.6_Missense_Mutation_p.R2074W|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R2074W|RP11-88L24.4_ENST00000582038.2_RNA			Q8WZ42	TITIN_HUMAN	titin	12808	Ig-like 10.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R2074W(7)|p.R2120W(5)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGGTCAGACCGTTCAATTTTG	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		20442	0.0		0.001	False		,,,				2504	0.0					ENST00000589042.1																			12	Substitution - Missense(12)	p.R2074W(7)|p.R2120W(5)	prostate(7)|large_intestine(5)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(6358-6360)Cgg>Tgg		titin							83.0	87.0	86.0					2																	179640233		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179640233G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.6358C>T	2.37:g.179640233G>A	ENSP00000465570:p.Arg2120Trp					TTN_ENST00000460472.2_Missense_Mutation_p.R2074W|TTN_ENST00000342175.6_Missense_Mutation_p.R2074W|TTN_ENST00000342992.6_Missense_Mutation_p.R2120W|TTN_ENST00000359218.5_Missense_Mutation_p.R2074W|TTN_ENST00000360870.5_Missense_Mutation_p.R2120W|TTN_ENST00000591111.1_Missense_Mutation_p.R2120W	p.R2120W	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	6582	-			1883			Ig-like 10.		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.6358C>T		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	4.249	0.045200	0.08196	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29	5.33	2.32	0.28847	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77903	0.4200	L	0.52905	1.665	0.25501	N	0.987556	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.983;0.983;0.983;0.977;0.997	T	0.70167	-0.4946	9	0.87932	D	0	.	14.6496	0.68786	0.0:0.0:0.3582:0.6418	.	2074;2074;2074;2120;2120	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	W	2120;2074;2074;2074;2074;2120	ENSP00000343764:R2120W;ENSP00000434586:R2074W;ENSP00000340554:R2074W;ENSP00000352154:R2074W;ENSP00000354117:R2120W	ENSP00000340554:R2074W	R	-	1	2	TTN	179348478	0.997000	0.39634	0.142000	0.22268	0.509000	0.34042	2.730000	0.47335	0.579000	0.29504	-0.152000	0.13540	CGG		0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	108	0	0	0	1	0	9	108				
PCDHA11	56138	broad.mit.edu	37	5	140250899	140250899	+	Silent	SNP	G	G	A	rs199741530		TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr5:140250899G>A	ENST00000398640.2	+	1	2211	c.2211G>A	c.(2209-2211)acG>acA	p.T737T	PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	737	6 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.T737T(1)		breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAGCCCACGCTGGTGTGCT	0.687													.|||	1	0.000199681	0.0	0.0	5008	,	,		14445	0.001		0.0	False		,,,				2504	0.0					ENST00000398640.2																			1	Substitution - coding silent(1)	p.T737T(1)	prostate(1)	breast(1)|lung(1)	2						c.(2209-2211)acG>acA									31.0	33.0	32.0					5																	140250899		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140250899G>A	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.2211G>A	5.37:g.140250899G>A						PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron	p.T737T	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2211	+								B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	c.2211G>A	CCDS47284.1																																																																																				0.687	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		4	29	0	0	0	1	0	4	29				
PCDHGA10	56106	broad.mit.edu	37	5	140794640	140794640	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr5:140794640C>T	ENST00000398610.2	+	1	1898	c.1898C>T	c.(1897-1899)gCg>gTg	p.A633V	PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	633	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A633V(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCGCACGGCGCGAGCCCTG	0.692																																						ENST00000398610.2																			1	Substitution - Missense(1)	p.A633V(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1897-1899)gCg>gTg									45.0	54.0	51.0					5																	140794640		2203	4296	6499	SO:0001583	missense	0							g.chr5:140794640C>T		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.1898C>T	5.37:g.140794640C>T	ENSP00000381611:p.Ala633Val					PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron	p.A633V	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1898	+								Q9Y5E0	Missense_Mutation	SNP	ENST00000398610.2	37	c.1898C>T	CCDS47292.1	.	.	.	.	.	.	.	.	.	.	c	6.944	0.544018	0.13312	.	.	ENSG00000253846	ENST00000398610	T	0.51071	0.72	5.39	5.39	0.77823	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.40862	0.1134	L	0.31526	0.94	0.09310	N	1	P;B	0.42078	0.77;0.355	B;B	0.38378	0.244;0.272	T	0.37174	-0.9717	9	0.42905	T	0.14	.	18.8436	0.92194	0.0:1.0:0.0:0.0	.	633;633	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	V	633	ENSP00000381611:A633V	ENSP00000381611:A633V	A	+	2	0	PCDHGA10	140774824	0.000000	0.05858	0.035000	0.18076	0.074000	0.17049	0.650000	0.24858	2.548000	0.85928	0.556000	0.70494	GCG		0.692	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		29	59	0	0	0	1	0	29	59				
IL17RC	84818	broad.mit.edu	37	3	9969889	9969889	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr3:9969889T>A	ENST00000295981.3	+	10	1293	c.1075T>A	c.(1075-1077)Tgc>Agc	p.C359S	IL17RC_ENST00000403601.3_Missense_Mutation_p.C288S|IL17RC_ENST00000383812.4_Missense_Mutation_p.C273S|IL17RC_ENST00000416074.2_Missense_Mutation_p.C144S|IL17RC_ENST00000455057.1_Missense_Mutation_p.C273S|IL17RC_ENST00000413608.1_Missense_Mutation_p.C288S|IL17RC_ENST00000498214.1_3'UTR	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	359					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)	p.C359S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GACGAACATCTGCCCCTTCAG	0.637																																						ENST00000295981.3																			1	Substitution - Missense(1)	p.C359S(1)	prostate(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1075-1077)Tgc>Agc		interleukin 17 receptor C							103.0	100.0	101.0					3																	9969889		2203	4300	6503	SO:0001583	missense	84818					integral to membrane|plasma membrane	receptor activity	g.chr3:9969889T>A	BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"""Interleukins and interleukin receptors"""	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.1075T>A	3.37:g.9969889T>A	ENSP00000295981:p.Cys359Ser					IL17RC_ENST00000403601.3_Missense_Mutation_p.C288S|IL17RC_ENST00000413608.1_Missense_Mutation_p.C288S|IL17RC_ENST00000455057.1_Missense_Mutation_p.C273S|IL17RC_ENST00000416074.2_Missense_Mutation_p.C144S|IL17RC_ENST00000383812.4_Missense_Mutation_p.C273S|IL17RC_ENST00000498214.1_3'UTR	p.C359S	NM_153461.3	NP_703191.1	Q8NAC3	I17RC_HUMAN			10	1293	+			359					E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Missense_Mutation	SNP	ENST00000295981.3	37	c.1075T>A	CCDS2590.1	.	.	.	.	.	.	.	.	.	.	T	15.46	2.841329	0.51057	.	.	ENSG00000163702	ENST00000383812;ENST00000438091;ENST00000295981;ENST00000436503;ENST00000403601;ENST00000416074;ENST00000455057;ENST00000413608	T;T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.5	4.31	0.51392	.	0.128230	0.52532	D	0.000078	T	0.60287	0.2257	M	0.70275	2.135	0.34404	D	0.695652	D;D;D;D;D;D;D;D;D	0.76494	0.998;0.998;0.997;0.997;0.999;0.999;0.998;0.979;0.999	D;D;D;D;D;D;D;P;D	0.76575	0.943;0.969;0.915;0.915;0.94;0.94;0.961;0.747;0.988	T	0.72083	-0.4397	10	0.87932	D	0	-18.1608	9.6797	0.40063	0.0:0.0:0.175:0.825	.	273;144;273;288;288;288;273;359;288	Q8NAC3-4;F5H4Z2;E9PHG1;A8BWD5;E9PHJ6;A8BWC9;Q8NAC3-3;Q8NAC3;Q8NAC3-2	.;.;.;.;.;.;.;I17RC_HUMAN;.	S	273;248;359;263;288;144;273;288	ENSP00000373323:C273S;ENSP00000414609:C248S;ENSP00000295981:C359S;ENSP00000401128:C263S;ENSP00000384969:C288S;ENSP00000395315:C144S;ENSP00000407894:C273S;ENSP00000396064:C288S	ENSP00000295981:C359S	C	+	1	0	IL17RC	9944889	0.996000	0.38824	0.738000	0.30950	0.440000	0.31957	3.797000	0.55514	0.986000	0.38683	0.374000	0.22700	TGC		0.637	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2	NM_032732		12	166	0	0	0	1	0	12	166				
RBMS2	5939	broad.mit.edu	37	12	56963707	56963707	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr12:56963707G>A	ENST00000262031.5	+	4	412	c.317G>A	c.(316-318)aGc>aAc	p.S106N	RBMS2_ENST00000549945.1_3'UTR|RBMS2_ENST00000550726.1_5'UTR|RBMS2_ENST00000552247.2_Missense_Mutation_p.S106N|RBMS2_ENST00000542360.1_5'UTR	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2	106	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.S106N(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						GATTTTGACAGCCCTTCAGCA	0.512																																						ENST00000262031.5																			1	Substitution - Missense(1)	p.S106N(1)	prostate(1)	breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						c.(316-318)aGc>aAc		RNA binding motif, single stranded interacting protein 2							131.0	110.0	117.0					12																	56963707		2203	4300	6503	SO:0001583	missense	5939				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr12:56963707G>A	D28483	CCDS8923.1	12q13.13	2013-02-12			ENSG00000076067	ENSG00000076067		"""RNA binding motif (RRM) containing"""	9909	protein-coding gene	gene with protein product		602387				8041632	Standard	NM_002898		Approved	SCR3	uc001sln.2	Q15434	OTTHUMG00000170488	ENST00000262031.5:c.317G>A	12.37:g.56963707G>A	ENSP00000262031:p.Ser106Asn					RBMS2_ENST00000552247.2_Missense_Mutation_p.S106N|RBMS2_ENST00000542360.1_5'UTR|RBMS2_ENST00000549945.1_3'UTR|RBMS2_ENST00000550726.1_5'UTR	p.S106N	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN			4	412	+			106			RRM 1.			Missense_Mutation	SNP	ENST00000262031.5	37	c.317G>A	CCDS8923.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.794692	0.70452	.	.	ENSG00000076067	ENST00000262031;ENST00000552247	T;T	0.36699	3.32;1.24	4.98	4.98	0.66077	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.32645	0.0836	L	0.28694	0.88	0.80722	D	1	B	0.33477	0.413	B	0.36418	0.224	T	0.19160	-1.0314	10	0.56958	D	0.05	.	17.4061	0.87474	0.0:0.0:1.0:0.0	.	106	Q15434	RBMS2_HUMAN	N	106	ENSP00000262031:S106N;ENSP00000447426:S106N	ENSP00000262031:S106N	S	+	2	0	RBMS2	55249974	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.235000	0.95353	2.500000	0.84329	0.650000	0.86243	AGC		0.512	RBMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409366.2	NM_002898		3	139	0	0	0	1	0	3	139				
MUC16	94025	broad.mit.edu	37	19	9070399	9070399	+	Missense_Mutation	SNP	C	C	T	rs370295620		TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr19:9070399C>T	ENST00000397910.4	-	3	17250	c.17047G>A	c.(17047-17049)Gta>Ata	p.V5683I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5685	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.V5683I(2)|p.V1316I(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAACTCGTTACGGGCTCTGGG	0.512																																						ENST00000397910.4																			3	Substitution - Missense(3)	p.V5683I(2)|p.V1316I(1)	prostate(3)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(17047-17049)Gta>Ata		mucin 16, cell surface associated																																				SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9070399C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.17047G>A	19.37:g.9070399C>T	ENSP00000381008:p.Val5683Ile						p.V5683I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	17250	-			5685			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.17047G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	3.439	-0.114398	0.06881	.	.	ENSG00000181143	ENST00000397910	T	0.22743	1.94	1.87	-0.468	0.12146	.	.	.	.	.	T	0.13756	0.0333	L	0.34521	1.04	.	.	.	B	0.09022	0.002	B	0.01281	0.0	T	0.20739	-1.0266	8	0.87932	D	0	.	4.5214	0.11960	0.0:0.6389:0.0:0.3611	.	5683	B5ME49	.	I	5683	ENSP00000381008:V5683I	ENSP00000381008:V5683I	V	-	1	0	MUC16	8931399	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.422000	0.07043	-0.023000	0.13963	-1.514000	0.00941	GTA		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		7	73	0	0	0	1	0	7	73				
KIAA0895	23366	broad.mit.edu	37	7	36423479	36423479	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr7:36423479A>G	ENST00000297063.6	-	2	217	c.167T>C	c.(166-168)tTc>tCc	p.F56S		NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895	56								p.F56S(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TGAGGTAGAGAACTTGAGTTT	0.358																																						ENST00000297063.6																			1	Substitution - Missense(1)	p.F56S(1)	prostate(1)	breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(166-168)tTc>tCc		KIAA0895							127.0	118.0	121.0					7																	36423479		1819	4082	5901	SO:0001583	missense	23366							g.chr7:36423479A>G	BC028678	CCDS43570.1, CCDS47573.1, CCDS56482.1, CCDS56483.1, CCDS56484.1, CCDS75583.1	7p14.2	2008-11-27			ENSG00000164542	ENSG00000164542			22206	protein-coding gene	gene with protein product							Standard	NM_015314		Approved		uc003tfd.2	Q8NCT3	OTTHUMG00000154939	ENST00000297063.6:c.167T>C	7.37:g.36423479A>G	ENSP00000297063:p.Phe56Ser						p.F56S	NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN			2	217	-			56					B4DF35|B7ZLT4|B9EGB9|O94969|Q0VGC1|Q7Z4L2	Missense_Mutation	SNP	ENST00000297063.6	37	c.167T>C	CCDS43570.1	.	.	.	.	.	.	.	.	.	.	A	10.75	1.437375	0.25900	.	.	ENSG00000164542	ENST00000297063;ENST00000429651	.	.	.	4.05	0.115	0.14643	.	.	.	.	.	T	0.25044	0.0608	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.19712	-1.0297	8	0.51188	T	0.08	-15.9017	4.7014	0.12828	0.5087:0.3858:0.1055:0.0	.	56	Q8NCT3	K0895_HUMAN	S	56	.	ENSP00000297063:F56S	F	-	2	0	KIAA0895	36390004	0.991000	0.36638	0.017000	0.16124	0.945000	0.59286	0.640000	0.24705	0.025000	0.15241	0.459000	0.35465	TTC		0.358	KIAA0895-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337717.1	NM_015314		6	78	0	0	0	1	0	6	78				
PUM2	23369	broad.mit.edu	37	2	20458017	20458017	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr2:20458017G>T	ENST00000361078.2	-	15	2493	c.2471C>A	c.(2470-2472)tCt>tAt	p.S824Y	PUM2_ENST00000319801.5_Missense_Mutation_p.S745Y|PUM2_ENST00000403432.1_Missense_Mutation_p.S824Y|PUM2_ENST00000536417.1_Missense_Mutation_p.S768Y|PUM2_ENST00000338086.5_Missense_Mutation_p.S824Y			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	824	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)	p.S824Y(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGTCAGAAGAAATAGATTC	0.328																																						ENST00000361078.2																			1	Substitution - Missense(1)	p.S824Y(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42						c.(2470-2472)tCt>tAt		pumilio RNA-binding family member 2							52.0	51.0	51.0					2																	20458017		2203	4300	6503	SO:0001583	missense	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20458017G>T	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.2471C>A	2.37:g.20458017G>T	ENSP00000354370:p.Ser824Tyr					PUM2_ENST00000403432.1_Missense_Mutation_p.S824Y|PUM2_ENST00000319801.5_Missense_Mutation_p.S745Y|PUM2_ENST00000338086.5_Missense_Mutation_p.S824Y|PUM2_ENST00000536417.1_Missense_Mutation_p.S768Y	p.S824Y			Q8TB72	PUM2_HUMAN			15	2493	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		824			PUM-HD.		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	37	c.2471C>A		.	.	.	.	.	.	.	.	.	.	G	29.3	4.990746	0.93106	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417	T;T;T;T;T;T	0.16196	2.4;2.36;2.43;2.4;2.4;2.4	5.77	5.77	0.91146	Armadillo-like helical (1);Armadillo-type fold (1);	0.062950	0.64402	D	0.000002	T	0.41190	0.1148	L	0.57536	1.79	0.80722	D	1	D;D;D;D	0.76494	0.997;0.998;0.994;0.999	D;D;P;D	0.68353	0.91;0.943;0.749;0.957	T	0.05582	-1.0876	10	0.72032	D	0.01	-3.9839	20.3626	0.98863	0.0:0.0:1.0:0.0	.	768;745;824;824	B4E2B6;B7ZL34;Q8TB72-3;Q8TB72	.;.;.;PUM2_HUMAN	Y	824;824;745;636;824;768	ENSP00000338173:S824Y;ENSP00000354370:S824Y;ENSP00000326746:S745Y;ENSP00000409905:S636Y;ENSP00000385992:S824Y;ENSP00000440093:S768Y	ENSP00000326746:S745Y	S	-	2	0	PUM2	20321498	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.792000	0.99085	2.885000	0.99019	0.655000	0.94253	TCT		0.328	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		20	57	1	0	5.03518e-11	1	5.55427e-11	20	57				
CAMTA1	23261	broad.mit.edu	37	1	7700505	7700505	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr1:7700505G>A	ENST00000303635.7	+	7	763	c.556G>A	c.(556-558)Gag>Aag	p.E186K	CAMTA1_ENST00000439411.2_Missense_Mutation_p.E186K	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	186					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E186K(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCCGGCCATCGAGGACTGCGG	0.612			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		2	Substitution - Missense(2)	p.E186K(2)	prostate(1)|lung(1)	breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(556-558)Gag>Aag		calmodulin binding transcription activator 1							139.0	113.0	121.0					1																	7700505		2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7700505G>A	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.556G>A	1.37:g.7700505G>A	ENSP00000306522:p.Glu186Lys					CAMTA1_ENST00000439411.2_Missense_Mutation_p.E186K	p.E186K	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	7	763	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	186					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.556G>A	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656932	0.88154	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.25912	1.77;1.77	5.36	5.36	0.76844	CG-1 (1);	0.000000	0.85682	D	0.000000	T	0.38321	0.1036	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.06844	-1.0804	10	0.25751	T	0.34	-24.0721	19.0961	0.93251	0.0:0.0:1.0:0.0	.	186	Q9Y6Y1	CMTA1_HUMAN	K	186	ENSP00000306522:E186K;ENSP00000402561:E186K	ENSP00000306522:E186K	E	+	1	0	CAMTA1	7623092	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	9.764000	0.98949	2.506000	0.84524	0.462000	0.41574	GAG		0.612	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		4	82	0	0	0	1	0	4	82				
LHX3	8022	broad.mit.edu	37	9	139090531	139090531	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr9:139090531C>T	ENST00000371748.5	-	5	838	c.742G>A	c.(742-744)Ggg>Agg	p.G248R	LHX3_ENST00000371746.3_Missense_Mutation_p.G253R	NM_178138.4	NP_835258.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	248					inner ear development (GO:0048839)|lung development (GO:0030324)|medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|placenta development (GO:0001890)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron cell fate specification (GO:0021520)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.G253R(1)		large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		CTGTCCTGCCCCTCCTGAACG	0.711																																						ENST00000371746.3																			1	Substitution - Missense(1)	p.G253R(1)	prostate(1)	large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(757-759)Ggg>Agg		LIM homeobox 3							16.0	16.0	16.0					9																	139090531		2196	4291	6487	SO:0001583	missense	8022				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:139090531C>T	AF096169	CCDS6994.1, CCDS6995.1	9q34.3	2011-06-20			ENSG00000107187	ENSG00000107187		"""Homeoboxes / LIM class"""	6595	protein-coding gene	gene with protein product		600577				10598593, 10717474	Standard	NM_178138		Approved		uc004cgz.3	Q9UBR4	OTTHUMG00000020924	ENST00000371748.5:c.742G>A	9.37:g.139090531C>T	ENSP00000360813:p.Gly248Arg					LHX3_ENST00000371748.5_Missense_Mutation_p.G248R	p.G253R	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)	5	875	-		Myeloproliferative disorder(178;0.0511)	248					Q5TB39|Q5TB40|Q9NZB5|Q9P0I8|Q9P0I9	Missense_Mutation	SNP	ENST00000371748.5	37	c.757G>A	CCDS6994.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.731248	0.69189	.	.	ENSG00000107187	ENST00000371748;ENST00000371746;ENST00000325195	D;D	0.89746	-2.4;-2.56	3.28	3.28	0.37604	.	0.000000	0.85682	D	0.000000	D	0.90116	0.6912	L	0.51422	1.61	0.80722	D	1	D;P	0.56968	0.978;0.556	P;B	0.58266	0.836;0.14	D	0.88096	0.2816	10	0.26408	T	0.33	.	14.0485	0.64719	0.0:1.0:0.0:0.0	.	248;253	Q9UBR4;F1T0D9	LHX3_HUMAN;.	R	248;253;251	ENSP00000360813:G248R;ENSP00000360811:G253R	ENSP00000319224:G251R	G	-	1	0	LHX3	138230352	0.982000	0.34865	0.999000	0.59377	0.907000	0.53573	2.649000	0.46656	1.832000	0.53329	0.555000	0.69702	GGG		0.711	LHX3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055048.3			9	15	0	0	0	1	0	9	15				
KSR1	8844	broad.mit.edu	37	17	25931720	25931720	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr17:25931720C>T	ENST00000319524.6	+	14	1646	c.1646C>T	c.(1645-1647)cCg>cTg	p.P549L	KSR1_ENST00000268763.6_Missense_Mutation_p.P412L|KSR1_ENST00000398988.3_Missense_Mutation_p.P412L|KSR1_ENST00000509603.2_Missense_Mutation_p.P527L|KSR1_ENST00000581975.1_3'UTR			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	549					Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.P527L(1)|p.P549L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GATGACCAGCCGAAAGCAGAT	0.552																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000398988.3																			2	Substitution - Missense(2)	p.P527L(1)|p.P549L(1)	prostate(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(1234-1236)cCg>cTg		kinase suppressor of ras 1							95.0	107.0	103.0					17																	25931720		2014	4174	6188	SO:0001583	missense	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25931720C>T	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.1646C>T	17.37:g.25931720C>T	ENSP00000323178:p.Pro549Leu					KSR1_ENST00000319524.6_Missense_Mutation_p.P549L|KSR1_ENST00000268763.6_Missense_Mutation_p.P412L|KSR1_ENST00000581975.1_3'UTR|KSR1_ENST00000509603.2_Missense_Mutation_p.P527L	p.P412L	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	15	1680	+	Lung NSC(42;0.00836)		547					F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP	ENST00000319524.6	37	c.1235C>T		.	.	.	.	.	.	.	.	.	.	C	15.61	2.884277	0.51908	.	.	ENSG00000141068	ENST00000319524;ENST00000509603;ENST00000268763;ENST00000398982	T;T;T	0.80304	-1.29;-1.36;-1.26	5.52	1.09	0.20402	.	1.575470	0.02881	N	0.132794	T	0.66066	0.2752	N	0.19112	0.55	0.18873	N	0.999986	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.001	T	0.49214	-0.8963	10	0.27082	T	0.32	.	2.6585	0.05019	0.152:0.5303:0.1478:0.1698	.	547;527	Q8IVT5;F5H0K8	KSR1_HUMAN;.	L	549;527;412;412	ENSP00000323178:P549L;ENSP00000438795:P527L;ENSP00000268763:P412L	ENSP00000268763:P412L	P	+	2	0	KSR1	22955847	0.721000	0.28007	0.005000	0.12908	0.596000	0.36781	1.226000	0.32563	0.342000	0.23796	0.561000	0.74099	CCG		0.552	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		14	81	0	0	0	1	0	14	81				
CNGA2	1260	broad.mit.edu	37	X	150911712	150911712	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chrX:150911712G>A	ENST00000329903.4	+	6	770	c.737G>A	c.(736-738)cGc>cAc	p.R246H		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	246					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.R246H(1)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGAGGTGCGCTTCAACCGC	0.532																																						ENST00000329903.4																			1	Substitution - Missense(1)	p.R246H(1)	prostate(1)	breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49						c.(736-738)cGc>cAc		cyclic nucleotide gated channel alpha 2							166.0	123.0	138.0					X																	150911712		2203	4300	6503	SO:0001583	missense	1260				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150911712G>A	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.737G>A	X.37:g.150911712G>A	ENSP00000328478:p.Arg246His						p.R246H	NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN			6	770	+	Acute lymphoblastic leukemia(192;6.56e-05)		246					A0AVD0	Missense_Mutation	SNP	ENST00000329903.4	37	c.737G>A	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.251493	0.80135	.	.	ENSG00000183862	ENST00000329903	D	0.98617	-5.03	5.49	5.49	0.81192	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99495	0.9820	H	0.97783	4.075	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.98059	1.0392	10	0.87932	D	0	.	15.6554	0.77129	0.0:0.0:1.0:0.0	.	246	Q16280	CNGA2_HUMAN	H	246	ENSP00000328478:R246H	ENSP00000328478:R246H	R	+	2	0	CNGA2	150662368	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.476000	0.97823	2.293000	0.77203	0.600000	0.82982	CGC		0.532	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		4	87	0	0	0	1	0	4	87				
B4GALNT1	2583	broad.mit.edu	37	12	58022636	58022636	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr12:58022636G>T	ENST00000341156.4	-	8	1446	c.862C>A	c.(862-864)Cgt>Agt	p.R288S	B4GALNT1_ENST00000449184.3_Missense_Mutation_p.R255S|B4GALNT1_ENST00000550943.1_5'Flank|B4GALNT1_ENST00000418555.2_Missense_Mutation_p.R233S	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	288					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)	p.R288S(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CGATCATAACGGAGGAAGGTC	0.582																																						ENST00000341156.4																			1	Substitution - Missense(1)	p.R288S(1)	prostate(1)	breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20						c.(862-864)Cgt>Agt		beta-1,4-N-acetyl-galactosaminyl transferase 1							84.0	76.0	79.0					12																	58022636		2203	4300	6503	SO:0001583	missense	2583				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	g.chr12:58022636G>T	M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	4117	protein-coding gene	gene with protein product	"""GD2 synthase, GM2 synthase"""	601873	"""UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)"", ""UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1"", ""spastic paraplegia 26"""	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.862C>A	12.37:g.58022636G>T	ENSP00000341562:p.Arg288Ser					B4GALNT1_ENST00000418555.2_Missense_Mutation_p.R233S|B4GALNT1_ENST00000449184.3_Missense_Mutation_p.R255S	p.R288S	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		8	1446	-	Melanoma(17;0.122)		288					B4DE26|Q8N636	Missense_Mutation	SNP	ENST00000341156.4	37	c.862C>A	CCDS8950.1	.	.	.	.	.	.	.	.	.	.	.	29.4	5.006543	0.93287	.	.	ENSG00000135454	ENST00000341156;ENST00000418555	T;T	0.62941	-0.01;-0.01	5.04	4.13	0.48395	Glycosyl transferase, family 2 (1);	0.056620	0.64402	D	0.000001	D	0.82549	0.5061	M	0.91038	3.17	0.80722	D	1	P;D;D	0.89917	0.904;0.975;1.0	P;P;D	0.97110	0.593;0.84;1.0	D	0.86881	0.2042	10	0.87932	D	0	-7.6713	14.3471	0.66675	0.0:0.1497:0.8503:0.0	.	255;233;288	B4DSP5;B4DE26;Q00973	.;.;B4GN1_HUMAN	S	288;233	ENSP00000341562:R288S;ENSP00000401601:R233S	ENSP00000341562:R288S	R	-	1	0	B4GALNT1	56308903	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.118000	0.94355	1.335000	0.45486	0.655000	0.94253	CGT		0.582	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	NM_001478		3	69	1	0	1	1	1	3	69				
RBFOX1	54715	broad.mit.edu	37	16	7568237	7568237	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr16:7568237C>T	ENST00000550418.1	+	5	1104	c.116C>T	c.(115-117)gCg>gTg	p.A39V	RBFOX1_ENST00000355637.4_Missense_Mutation_p.A59V|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A75V|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A59V|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A59V|RBFOX1_ENST00000547372.1_Missense_Mutation_p.A82V|RBFOX1_ENST00000422070.4_Missense_Mutation_p.A82V|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A39V|RBFOX1_ENST00000547338.1_Missense_Mutation_p.A39V|RBFOX1_ENST00000340209.4_Missense_Mutation_p.A44V|RBFOX1_ENST00000552089.1_Missense_Mutation_p.A75V	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	39					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.A59V(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GGTATCCCCGCGGAATACACG	0.612																																					Ovarian(157;934 2567 15163 39509)	ENST00000340209.4																			2	Substitution - Missense(2)	p.A59V(2)	prostate(2)	breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(130-132)gCg>gTg		RNA binding protein, fox-1 homolog (C. elegans) 1							120.0	119.0	119.0					16																	7568237		2197	4300	6497	SO:0001583	missense	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7568237C>T	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.116C>T	16.37:g.7568237C>T	ENSP00000450031:p.Ala39Val					RBFOX1_ENST00000553186.1_Missense_Mutation_p.A39V|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A75V|RBFOX1_ENST00000547372.1_Missense_Mutation_p.A82V|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A59V|RBFOX1_ENST00000355637.4_Missense_Mutation_p.A59V|RBFOX1_ENST00000552089.1_Missense_Mutation_p.A75V|RBFOX1_ENST00000422070.4_Missense_Mutation_p.A82V|RBFOX1_ENST00000550418.1_Missense_Mutation_p.A39V|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A59V|RBFOX1_ENST00000547338.1_Missense_Mutation_p.A39V	p.A44V			Q9NWB1	RFOX1_HUMAN			2	428	+			39					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.131C>T	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	C	33	5.207347	0.95033	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T	0.34275	1.88;1.37;1.72;1.68;1.68;1.78;1.37;1.5;1.68;1.67;1.38	4.85	4.85	0.62838	.	0.129861	0.50627	D	0.000112	T	0.54159	0.1841	L	0.44542	1.39	0.80722	D	1	D;D;D;D;D;D;P;P;D	0.89917	0.998;0.999;1.0;1.0;0.977;1.0;0.937;0.896;0.994	P;D;P;D;P;D;P;P;P	0.85130	0.887;0.92;0.877;0.997;0.651;0.991;0.572;0.505;0.861	T	0.57952	-0.7722	10	0.72032	D	0.01	-6.9425	17.9952	0.89181	0.0:1.0:0.0:0.0	.	59;75;82;59;59;59;39;39;82	F8WAC5;F5H0M1;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;.;RFOX1_HUMAN;.	V	39;39;39;82;82;75;75;39;39;59;59;59;59;44	ENSP00000450402:A39V;ENSP00000450031:A39V;ENSP00000447753:A39V;ENSP00000446842:A82V;ENSP00000391269:A82V;ENSP00000447281:A39V;ENSP00000447717:A39V;ENSP00000402745:A59V;ENSP00000309117:A59V;ENSP00000347855:A59V;ENSP00000344196:A44V	ENSP00000309117:A59V	A	+	2	0	RBFOX1	7508238	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.041000	0.76558	2.222000	0.72286	0.557000	0.71058	GCG		0.612	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		22	199	0	0	0	1	0	22	199				
KLHL7	55975	broad.mit.edu	37	7	23164685	23164685	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr7:23164685C>G	ENST00000339077.5	+	4	579	c.336C>G	c.(334-336)aaC>aaG	p.N112K	KLHL7_ENST00000542558.1_Intron|KLHL7_ENST00000539124.1_Missense_Mutation_p.N36K|KLHL7_ENST00000322231.7_Missense_Mutation_p.N90K|KLHL7_ENST00000479288.1_Intron|KLHL7_ENST00000410047.1_Missense_Mutation_p.N90K|KLHL7_ENST00000545443.1_Missense_Mutation_p.N90K|KLHL7_ENST00000409689.1_Missense_Mutation_p.N64K|KLHL7_ENST00000322275.5_Missense_Mutation_p.N112K|KLHL7_ENST00000545771.1_Missense_Mutation_p.N90K	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	112					protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.N90K(1)|p.N112K(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGAATAGCAACAATGTTCAGT	0.328																																						ENST00000322231.7																			2	Substitution - Missense(2)	p.N90K(1)|p.N112K(1)	prostate(2)	breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(268-270)aaC>aaG		kelch-like family member 7							84.0	85.0	85.0					7																	23164685		2202	4300	6502	SO:0001583	missense	55975					Golgi apparatus|nucleolus|plasma membrane		g.chr7:23164685C>G		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.336C>G	7.37:g.23164685C>G	ENSP00000343273:p.Asn112Lys					KLHL7_ENST00000409689.1_Missense_Mutation_p.N64K|KLHL7_ENST00000545771.1_Missense_Mutation_p.N90K|KLHL7_ENST00000479288.1_Intron|KLHL7_ENST00000339077.4_Missense_Mutation_p.N112K|KLHL7_ENST00000322275.5_Missense_Mutation_p.N112K|KLHL7_ENST00000545443.1_Missense_Mutation_p.N90K|KLHL7_ENST00000410047.1_Missense_Mutation_p.N90K|KLHL7_ENST00000542558.1_Intron|KLHL7_ENST00000539124.1_Missense_Mutation_p.N36K	p.N90K			Q8IXQ5	KLHL7_HUMAN			5	760	+			112			BTB.		A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	ENST00000339077.5	37	c.270C>G	CCDS34609.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.915097	0.33815	.	.	ENSG00000122550	ENST00000322231;ENST00000339077;ENST00000322275;ENST00000539124;ENST00000409689;ENST00000410047;ENST00000545771;ENST00000545443	T;T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	5.78	4.88	0.63580	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.039463	0.85682	D	0.000000	T	0.50411	0.1614	N	0.05050	-0.12	0.80722	D	1	D;B;B;P;D	0.55605	0.972;0.001;0.001;0.952;0.972	P;B;B;B;P	0.53912	0.673;0.003;0.001;0.419;0.737	T	0.45264	-0.9273	10	0.21540	T	0.41	.	13.3329	0.60500	0.0:0.8814:0.0:0.1186	.	90;112;90;112;90	F5GYE2;Q8IXQ5;Q8IXQ5-2;Q8IXQ5-3;Q8IXQ5-4	.;KLHL7_HUMAN;.;.;.	K	90;112;112;36;64;90;90;90	ENSP00000322958:N90K;ENSP00000343273:N112K;ENSP00000323270:N112K;ENSP00000441136:N36K;ENSP00000386263:N64K;ENSP00000386999:N90K;ENSP00000446445:N90K;ENSP00000442366:N90K	ENSP00000322958:N90K	N	+	3	2	KLHL7	23131210	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.669000	0.37492	2.894000	0.99253	0.655000	0.94253	AAC		0.328	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846		8	97	0	0	0	1	0	8	97				
PXN	5829	broad.mit.edu	37	12	120657110	120657110	+	Intron	SNP	G	G	A	rs201683893		TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr12:120657110G>A	ENST00000228307.7	-	6	973				PXN_ENST00000538144.1_Intron|PXN_ENST00000536957.1_Intron|PXN_ENST00000397506.3_De_novo_Start_InFrame|PXN_ENST00000458477.2_Intron|PXN_ENST00000267257.7_Intron|PXN_ENST00000424649.2_Intron	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin						activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCAGCTTCCGTGGTGCCCTC	0.622																																						ENST00000397506.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19								paxillin							123.0	117.0	119.0					12																	120657110		876	1991	2867	SO:0001627	intron_variant	5829				cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding	g.chr12:120657110G>A	U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.831+2315C>T	12.37:g.120657110G>A						PXN_ENST00000536957.1_Intron|PXN_ENST00000458477.2_Intron|PXN_ENST00000228307.7_Intron|PXN_ENST00000538144.1_Intron|PXN_ENST00000424649.2_Intron|PXN_ENST00000267257.7_Intron				P49023	PAXI_HUMAN			0	71	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)							B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Translation_Start_Site	SNP	ENST00000228307.7	37		CCDS44997.1																																																																																				0.622	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402679.4	NM_002859		4	121	0	0	0	1	0	4	121				
ANKRD55	79722	broad.mit.edu	37	5	55472069	55472069	+	Silent	SNP	C	C	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr5:55472069C>T	ENST00000341048.4	-	4	373	c.222G>A	c.(220-222)gcG>gcA	p.A74A	ANKRD55_ENST00000513241.2_Silent_p.A45A|ANKRD55_ENST00000504958.2_Silent_p.A74A	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	74								p.A74A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TCACTGTGTCCGCTTGACGTC	0.493																																						ENST00000341048.4																			1	Substitution - coding silent(1)	p.A74A(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34						c.(220-222)gcG>gcA		ankyrin repeat domain 55							175.0	148.0	157.0					5																	55472069		2203	4300	6503	SO:0001819	synonymous_variant	79722							g.chr5:55472069C>T	AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"""Ankyrin repeat domain containing"""	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.222G>A	5.37:g.55472069C>T						ANKRD55_ENST00000513241.2_Silent_p.A45A|ANKRD55_ENST00000504958.2_Silent_p.A74A	p.A74A	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN			4	373	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)	73					B3KVT8|Q3KP45|Q9HAD3	Silent	SNP	ENST00000341048.4	37	c.222G>A	CCDS34161.1																																																																																				0.493	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4	NM_024669		5	206	0	0	0	1	0	5	206				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						ENST00000435989.2																			10	Substitution - Missense(10)	p.D404E(10)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1210-1212)gaC>gaA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	p.D404E	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1446	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		3	19	1	0	0.115264	1	0.11746	3	19				
MORC1	27136	broad.mit.edu	37	3	108818255	108818255	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr3:108818255T>C	ENST00000483760.1	-	6	416	c.373A>G	c.(373-375)Acc>Gcc	p.T125A	MORC1-AS1_ENST00000480826.1_RNA|MORC1_ENST00000232603.5_Missense_Mutation_p.T125A					MORC family CW-type zinc finger 1									p.T125A(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AACACACAGGTCATCGTTTCT	0.343																																						ENST00000232603.5																			1	Substitution - Missense(1)	p.T125A(1)	prostate(1)	breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(373-375)Acc>Gcc		MORC family CW-type zinc finger 1							126.0	126.0	126.0					3																	108818255		2201	4299	6500	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108818255T>C	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.373A>G	3.37:g.108818255T>C	ENSP00000417282:p.Thr125Ala					MORC1_ENST00000483760.1_Missense_Mutation_p.T125A	p.T125A	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			6	455	-			125						Missense_Mutation	SNP	ENST00000483760.1	37	c.373A>G		.	.	.	.	.	.	.	.	.	.	T	18.47	3.630087	0.67015	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	D;D	0.95103	-3.61;-3.61	4.78	4.78	0.61160	ATPase-like, ATP-binding domain (2);	0.000000	0.50627	D	0.000108	D	0.95875	0.8657	M	0.70595	2.14	0.45852	D	0.99871	P;P	0.45715	0.865;0.831	P;P	0.57244	0.681;0.816	D	0.95411	0.8498	10	0.46703	T	0.11	-12.9608	12.5723	0.56344	0.0:0.0:0.0:1.0	.	125;125	E7ERX1;Q86VD1	.;MORC1_HUMAN	A	125	ENSP00000232603:T125A;ENSP00000417282:T125A	ENSP00000232603:T125A	T	-	1	0	MORC1	110300945	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	6.801000	0.75170	2.135000	0.66039	0.454000	0.30748	ACC		0.343	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			12	115	0	0	0	1	0	12	115				
SEC23B	10483	broad.mit.edu	37	20	18505662	18505662	+	Silent	SNP	C	C	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr20:18505662C>T	ENST00000336714.3	+	6	1119	c.687C>T	c.(685-687)agC>agT	p.S229S	SEC23B_ENST00000262544.2_Silent_p.S229S|SEC23B_ENST00000377465.1_Silent_p.S229S|SEC23B_ENST00000377475.3_Silent_p.S229S	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	229					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)	p.S229S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						TTGCTTCAAGCAGGTGAGAGC	0.443																																						ENST00000336714.3																			1	Substitution - coding silent(1)	p.S229S(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						c.(685-687)agC>agT		Sec23 homolog B (S. cerevisiae)							83.0	66.0	72.0					20																	18505662		2203	4300	6503	SO:0001819	synonymous_variant	10483				ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding	g.chr20:18505662C>T	X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"""Sec23 (S. cerevisiae) homolog B"", ""congenital dyserythropoietic anemia, type II"""	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.687C>T	20.37:g.18505662C>T						SEC23B_ENST00000377475.3_Silent_p.S229S|SEC23B_ENST00000377465.1_Silent_p.S229S|SEC23B_ENST00000262544.2_Silent_p.S229S	p.S229S	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN			6	1119	+			229					D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Silent	SNP	ENST00000336714.3	37	c.687C>T	CCDS13137.1																																																																																				0.443	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5			3	49	0	0	0	1	0	3	49				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						ENST00000302558.3																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(5278-5280)Cct>Gct		RANBP2-like and GRIP domain containing 8							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	727851							g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	p.P1760A	NM_001164463.1	NP_001157935.1					23	5469	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		4	124	0	0	0	1	0	4	124				
CCT6P3	643180	broad.mit.edu	37	7	64530103	64530103	+	RNA	SNP	G	G	A	rs369683052		TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr7:64530103G>A	ENST00000426828.1	+	0	923				SNORA15_ENST00000384334.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		TGACTGCTTGGGACATGCAGG	0.388																																						ENST00000426828.1																			0																																																			0							g.chr7:64530103G>A			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64530103G>A								NR_033416.1						0	923	+									RNA	SNP	ENST00000426828.1	37																																																																																						0.388	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			3	90	0	0	0	1	0	3	90				
HSPB3	8988	broad.mit.edu	37	5	53752034	53752034	+	Silent	SNP	T	T	C			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr5:53752034T>C	ENST00000302005.1	+	1	590	c.415T>C	c.(415-417)Ttg>Ctg	p.L139L		NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	139					cell death (GO:0008219)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L139L(2)		breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				TGATGGAATTTTGGTGGTGGA	0.458																																						ENST00000302005.1																			2	Substitution - coding silent(2)	p.L139L(2)	prostate(2)	breast(1)|large_intestine(4)|prostate(3)	8						c.(415-417)Ttg>Ctg		heat shock 27kDa protein 3							120.0	114.0	116.0					5																	53752034		2203	4300	6503	SO:0001819	synonymous_variant	8988				cell death|response to heat|response to unfolded protein	cytoplasm|nucleus		g.chr5:53752034T>C	Y17782	CCDS3961.1	5q11.2	2011-09-02	2002-08-29		ENSG00000169271	ENSG00000169271		"""Heat shock proteins / HSPB"""	5248	protein-coding gene	gene with protein product		604624	"""heat shock 27kD protein 3"""			8972725, 9858786	Standard	NM_006308		Approved	HSPL27	uc003jph.2	Q12988	OTTHUMG00000096995	ENST00000302005.1:c.415T>C	5.37:g.53752034T>C							p.L139L	NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN			1	590	+		Lung NSC(810;0.00104)	139						Silent	SNP	ENST00000302005.1	37	c.415T>C	CCDS3961.1																																																																																				0.458	HSPB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214074.2			5	204	0	0	0	1	0	5	204				
AKR1A1	10327	broad.mit.edu	37	1	46034256	46034256	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr1:46034256C>G	ENST00000372070.3	+	7	1399	c.652C>G	c.(652-654)Cgt>Ggt	p.R218G	AKR1A1_ENST00000351829.4_Missense_Mutation_p.R218G|AKR1A1_ENST00000473038.1_Intron	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	218					aldehyde catabolic process (GO:0046185)|cellular aldehyde metabolic process (GO:0006081)|D-glucuronate catabolic process (GO:0042840)|glucose metabolic process (GO:0006006)|L-ascorbic acid biosynthetic process (GO:0019853)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|L-glucuronate reductase activity (GO:0047939)	p.R218G(1)		lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)				Doxorubicin(DB00997)	CTCCTCTGATCGTGCATGGCG	0.542																																						ENST00000372070.3																			1	Substitution - Missense(1)	p.R218G(1)	prostate(1)	lung(3)|prostate(1)|urinary_tract(1)	5						c.(652-654)Cgt>Ggt		aldo-keto reductase family 1, member A1 (aldehyde reductase)							107.0	88.0	94.0					1																	46034256		2203	4300	6503	SO:0001583	missense	10327				glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding	g.chr1:46034256C>G	J04794	CCDS523.1	1p33-p32	2010-04-08			ENSG00000117448	ENSG00000117448	1.1.1.2	"""Aldo-keto reductases"""	380	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase 3"""	103830				2498333, 10393438	Standard	NM_001202414		Approved	ALR, DD3	uc001coe.3	P14550	OTTHUMG00000007740	ENST00000372070.3:c.652C>G	1.37:g.46034256C>G	ENSP00000361140:p.Arg218Gly					AKR1A1_ENST00000351829.4_Missense_Mutation_p.R218G	p.R218G	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN			7	1399	+	Acute lymphoblastic leukemia(166;0.155)		218					A8KAL8|D3DQ04|Q6IAZ4	Missense_Mutation	SNP	ENST00000372070.3	37	c.652C>G	CCDS523.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.572253	0.86542	.	.	ENSG00000117448	ENST00000372070;ENST00000351829	T;T	0.30182	1.54;1.54	6.02	4.13	0.48395	NADP-dependent oxidoreductase domain (3);	0.046204	0.85682	D	0.000000	T	0.56321	0.1977	M	0.74546	2.27	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62053	-0.6935	10	0.87932	D	0	.	15.645	0.77042	0.2512:0.7488:0.0:0.0	.	218	P14550	AK1A1_HUMAN	G	218	ENSP00000361140:R218G;ENSP00000312606:R218G	ENSP00000312606:R218G	R	+	1	0	AKR1A1	45806843	1.000000	0.71417	0.975000	0.42487	0.985000	0.73830	6.006000	0.70724	0.861000	0.35504	0.650000	0.86243	CGT		0.542	AKR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020851.1	NM_006066		10	118	0	0	0	1	0	10	118				
ATMIN	23300	broad.mit.edu	37	16	81078505	81078505	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr16:81078505C>G	ENST00000299575.4	+	4	2426	c.2402C>G	c.(2401-2403)aCg>aGg	p.T801R	ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Missense_Mutation_p.T645R|ATMIN_ENST00000566488.1_Missense_Mutation_p.T645R	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	801					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)	p.T801R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						GCCTGGAACACGATGGAGTCT	0.488																																						ENST00000566488.1																			1	Substitution - Missense(1)	p.T801R(1)	prostate(1)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(1933-1935)aCg>aGg		ATM interactor							78.0	79.0	79.0					16																	81078505		2202	4300	6502	SO:0001583	missense	23300				response to DNA damage stimulus	nucleus	zinc ion binding	g.chr16:81078505C>G	BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"""Zinc fingers, C2H2-type"""	29034	protein-coding gene	gene with protein product	"""ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein"", ""ATM INteracting protein"""	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.2402C>G	16.37:g.81078505C>G	ENSP00000299575:p.Thr801Arg					ATMIN_ENST00000299575.4_Missense_Mutation_p.T801R|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Missense_Mutation_p.T645R	p.T645R			O43313	ATMIN_HUMAN			3	2897	+			801					A8K4H8|Q68DC9	Missense_Mutation	SNP	ENST00000299575.4	37	c.1934C>G	CCDS32494.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287617	0.59976	.	.	ENSG00000166454	ENST00000299575;ENST00000539819	T	0.37752	1.18	6.02	4.03	0.46877	.	0.170638	0.52532	D	0.000073	T	0.41766	0.1173	M	0.75447	2.3	0.40296	D	0.978552	D	0.55800	0.973	P	0.44518	0.452	T	0.49103	-0.8974	10	0.87932	D	0	-10.946	11.2898	0.49244	0.1274:0.8071:0.0:0.0654	.	801	O43313	ATMIN_HUMAN	R	801;572	ENSP00000299575:T801R	ENSP00000299575:T801R	T	+	2	0	ATMIN	79636006	0.997000	0.39634	0.964000	0.40570	0.997000	0.91878	3.040000	0.49799	0.838000	0.34948	0.655000	0.94253	ACG		0.488	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251		5	136	0	0	0	1	0	5	136				
CCDC105	126402	broad.mit.edu	37	19	15132481	15132481	+	Silent	SNP	G	G	A			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr19:15132481G>A	ENST00000292574.3	+	5	1177	c.1095G>A	c.(1093-1095)acG>acA	p.T365T		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	365						extracellular vesicular exosome (GO:0070062)		p.T365T(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						TCCGGTGTACGAAATATAACC	0.592																																						ENST00000292574.3																			1	Substitution - coding silent(1)	p.T365T(1)	prostate(1)	NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						c.(1093-1095)acG>acA		coiled-coil domain containing 105							89.0	86.0	87.0					19																	15132481		2203	4300	6503	SO:0001819	synonymous_variant	126402				microtubule cytoskeleton organization	microtubule		g.chr19:15132481G>A	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.1095G>A	19.37:g.15132481G>A							p.T365T	NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN			5	1177	+			365					Q8N7T5|Q8NDL5	Silent	SNP	ENST00000292574.3	37	c.1095G>A	CCDS12322.1																																																																																				0.592	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482		9	63	0	0	0	1	0	9	63				
RPL8	6132	broad.mit.edu	37	8	146017507	146017507	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr8:146017507C>T	ENST00000262584.3	-	2	240	c.8G>A	c.(7-9)cGt>cAt	p.R3H	RPL8_ENST00000528957.1_Missense_Mutation_p.R3H|RPL8_ENST00000394920.2_Missense_Mutation_p.R3H|RPL8_ENST00000527914.1_Missense_Mutation_p.R3H|RPL8_ENST00000529163.1_Intron	NM_000973.3	NP_000964.1	P62917	RL8_HUMAN	ribosomal protein L8	3					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)	p.R3H(1)		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)		ACGGATCACACGGCCCATGGC	0.736																																						ENST00000262584.3																			1	Substitution - Missense(1)	p.R3H(1)	prostate(1)	kidney(12)|lung(7)|prostate(1)	20						c.(7-9)cGt>cAt		ribosomal protein L8							13.0	15.0	15.0					8																	146017507		2189	4269	6458	SO:0001583	missense	6132				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	rRNA binding|structural constituent of ribosome	g.chr8:146017507C>T	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.8G>A	8.37:g.146017507C>T	ENSP00000262584:p.Arg3His					RPL8_ENST00000527914.1_Missense_Mutation_p.R3H|RPL8_ENST00000394920.2_Missense_Mutation_p.R3H|RPL8_ENST00000529163.1_Intron|RPL8_ENST00000528957.1_Missense_Mutation_p.R3H	p.R3H	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)	2	240	-	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)		3					A8K094|D3DWN2|P25120|Q567Q7|Q969V7|Q9BWQ9	Missense_Mutation	SNP	ENST00000262584.3	37	c.8G>A	CCDS6433.1	.	.	.	.	.	.	.	.	.	.	C	31	5.084152	0.94100	.	.	ENSG00000161016	ENST00000394920;ENST00000527914;ENST00000262584;ENST00000528957;ENST00000534813;ENST00000533397;ENST00000532702	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.82;0.8	4.69	4.69	0.59074	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.62684	0.2448	M	0.93939	3.475	0.80722	D	1	B;P;P	0.43750	0.22;0.748;0.816	B;B;B	0.42386	0.05;0.386;0.148	T	0.74842	-0.3527	10	0.62326	D	0.03	-9.751	15.5695	0.76323	0.0:1.0:0.0:0.0	.	3;3;3	B4DVG7;P62917;E9PIZ3	.;RL8_HUMAN;.	H	3	ENSP00000378378:R3H;ENSP00000262584:R3H;ENSP00000433464:R3H;ENSP00000435313:R3H;ENSP00000434535:R3H	ENSP00000262584:R3H	R	-	2	0	RPL8	145988311	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	6.376000	0.73141	2.616000	0.88540	0.555000	0.69702	CGT		0.736	RPL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382948.1	NM_000973		3	23	0	0	0	1	0	3	23				
ALPK3	57538	broad.mit.edu	37	15	85410592	85410592	+	Nonsense_Mutation	SNP	C	C	T	rs541612157		TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr15:85410592C>T	ENST00000258888.5	+	13	5541	c.5374C>T	c.(5374-5376)Cga>Tga	p.R1792*		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1792	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R1792*(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TACCAAACTCCGAGGGTGAGT	0.542																																						ENST00000258888.5																			2	Substitution - Nonsense(2)	p.R1792*(2)	prostate(2)	NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(5374-5376)Cga>Tga		alpha-kinase 3							123.0	112.0	116.0					15																	85410592		2203	4299	6502	SO:0001587	stop_gained	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85410592C>T	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.5374C>T	15.37:g.85410592C>T	ENSP00000258888:p.Arg1792*						p.R1792*	NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		13	5541	+			1792			Alpha-type protein kinase.		Q9P2L6	Nonsense_Mutation	SNP	ENST00000258888.5	37	c.5374C>T	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	C	45	11.790485	0.99603	.	.	ENSG00000136383	ENST00000258888	.	.	.	5.0	2.98	0.34508	.	0.176384	0.35378	N	0.003247	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-2.6796	5.3641	0.16103	0.2943:0.6044:0.0:0.1013	.	.	.	.	X	1792	.	ENSP00000258888:R1792X	R	+	1	2	ALPK3	83211596	0.928000	0.31464	0.984000	0.44739	0.694000	0.40290	1.805000	0.38883	1.328000	0.45358	0.655000	0.94253	CGA		0.542	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		5	82	0	0	0	1	0	5	82				
PACSIN2	11252	broad.mit.edu	37	22	43289513	43289513	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr22:43289513G>A	ENST00000263246.3	-	3	368	c.167C>T	c.(166-168)gCg>gTg	p.A56V	PACSIN2_ENST00000403744.3_Missense_Mutation_p.A56V|PACSIN2_ENST00000402229.1_Missense_Mutation_p.A56V|PACSIN2_ENST00000407585.1_Missense_Mutation_p.A56V|PACSIN2_ENST00000337959.4_Missense_Mutation_p.A56V	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	56	F-BAR domain.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				actin cytoskeleton organization (GO:0030036)|caveola assembly (GO:0070836)|caveolin-mediated endocytosis (GO:0072584)|cell projection morphogenesis (GO:0048858)|membrane tubulation (GO:0097320)|negative regulation of endocytosis (GO:0045806)|protein localization to endosome (GO:0036010)	caveola (GO:0005901)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|transporter activity (GO:0005215)	p.A56V(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				GAGCTGCTGCGCATACGCCTT	0.652																																						ENST00000263246.3																			1	Substitution - Missense(1)	p.A56V(1)	prostate(1)	NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19						c.(166-168)gCg>gTg		protein kinase C and casein kinase substrate in neurons 2							35.0	40.0	38.0					22																	43289513		2156	4283	6439	SO:0001583	missense	11252				actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity	g.chr22:43289513G>A	AF128536	CCDS43023.1, CCDS54536.1	22q13.2-q13.33	2009-05-08			ENSG00000100266	ENSG00000100266			8571	protein-coding gene	gene with protein product	"""syndapin II"""	604960				10431838, 11082044	Standard	NM_007229		Approved	SDPII	uc003bdg.4	Q9UNF0	OTTHUMG00000150701	ENST00000263246.3:c.167C>T	22.37:g.43289513G>A	ENSP00000263246:p.Ala56Val					PACSIN2_ENST00000337959.4_Missense_Mutation_p.A56V|PACSIN2_ENST00000407585.1_Missense_Mutation_p.A56V|PACSIN2_ENST00000403744.3_Missense_Mutation_p.A56V|PACSIN2_ENST00000496919.1_5'UTR|PACSIN2_ENST00000402229.1_Missense_Mutation_p.A56V	p.A56V	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN			3	368	-		Glioma(61;0.222)	56			FCH.		O95921|Q96HV9|Q9H0D3|Q9NPN1|Q9Y4V2	Missense_Mutation	SNP	ENST00000263246.3	37	c.167C>T	CCDS43023.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174654	0.78452	.	.	ENSG00000100266	ENST00000263246;ENST00000337959;ENST00000407585;ENST00000403744;ENST00000402229;ENST00000453643;ENST00000418133;ENST00000422336	T;T;T;T;T;T;T;T	0.60797	1.72;1.72;1.72;1.72;1.72;0.16;0.16;0.16	4.49	4.49	0.54785	Fps/Fes/Fer/CIP4 homology (3);	0.210325	0.49916	D	0.000135	T	0.69415	0.3108	M	0.77103	2.36	0.80722	D	1	D;D	0.71674	0.989;0.998	P;P	0.51079	0.523;0.658	T	0.76138	-0.3069	10	0.87932	D	0	-5.2156	18.5054	0.90896	0.0:0.0:1.0:0.0	.	56;56	Q6FIA3;Q9UNF0	.;PACN2_HUMAN	V	56	ENSP00000263246:A56V;ENSP00000338379:A56V;ENSP00000385952:A56V;ENSP00000385372:A56V;ENSP00000385040:A56V;ENSP00000398573:A56V;ENSP00000396816:A56V;ENSP00000403435:A56V	ENSP00000263246:A56V	A	-	2	0	PACSIN2	41619457	1.000000	0.71417	0.763000	0.31416	0.338000	0.28826	7.565000	0.82337	2.784000	0.95788	0.551000	0.68910	GCG		0.652	PACSIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319665.1	NM_007229		7	63	0	0	0	1	0	7	63				
CFAP69	79846	broad.mit.edu	37	7	89912266	89912266	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr7:89912266C>T	ENST00000389297.4	+	13	1684	c.1433C>T	c.(1432-1434)gCc>gTc	p.A478V	C7orf63_ENST00000497910.1_Missense_Mutation_p.A460V|C7orf63_ENST00000316089.8_Missense_Mutation_p.A478V	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		478								p.A478V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						AACAAGTTTGCCCAGATGCGT	0.398																																						ENST00000389297.4																			1	Substitution - Missense(1)	p.A478V(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						c.(1432-1434)gCc>gTc		chromosome 7 open reading frame 63							114.0	106.0	108.0					7																	89912266		1899	4107	6006	SO:0001583	missense	79846						binding	g.chr7:89912266C>T																												ENST00000389297.4:c.1433C>T	7.37:g.89912266C>T	ENSP00000373948:p.Ala478Val					C7orf63_ENST00000497910.1_Missense_Mutation_p.A460V|C7orf63_ENST00000316089.8_Missense_Mutation_p.A478V	p.A478V	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN			13	1684	+			478					A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	ENST00000389297.4	37	c.1433C>T	CCDS43613.2	.	.	.	.	.	.	.	.	.	.	C	27.7	4.858493	0.91433	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000457170;ENST00000449577	T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34	5.39	5.39	0.77823	Armadillo-type fold (1);	0.108387	0.64402	D	0.000009	T	0.60025	0.2237	M	0.69358	2.11	0.48696	D	0.999694	D;D;D	0.71674	0.972;0.998;0.994	P;D;D	0.68943	0.902;0.961;0.917	T	0.62632	-0.6813	10	0.72032	D	0.01	-6.8081	19.139	0.93439	0.0:1.0:0.0:0.0	.	460;478;478	A5D8W1-5;A5D8W1;A5D8W1-2	.;CG063_HUMAN;.	V	478;478;460;361;61	ENSP00000373948:A478V;ENSP00000321753:A478V;ENSP00000419549:A460V;ENSP00000392365:A361V;ENSP00000391571:A61V	ENSP00000321753:A478V	A	+	2	0	C7orf63	89750202	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.984000	0.70548	2.513000	0.84729	0.591000	0.81541	GCC		0.398	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			3	94	0	0	0	1	0	3	94				
CDH18	1016	broad.mit.edu	37	5	19503127	19503127	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr5:19503127G>A	ENST00000507958.1	-	13	2594	c.1604C>T	c.(1603-1605)cCa>cTa	p.P535L	CDH18_ENST00000511273.1_Missense_Mutation_p.P535L|CDH18_ENST00000382275.1_Missense_Mutation_p.P535L|CDH18_ENST00000502796.1_Missense_Mutation_p.P535L|CDH18_ENST00000274170.4_Missense_Mutation_p.P535L|CDH18_ENST00000506372.1_Missense_Mutation_p.P535L			Q13634	CAD18_HUMAN	cadherin 18, type 2	535	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P535L(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGTGAAGTTTGGATTTACAGG	0.348																																						ENST00000507958.1																			2	Substitution - Missense(2)	p.P535L(2)	prostate(2)	breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(1603-1605)cCa>cTa		cadherin 18, type 2							117.0	109.0	112.0					5																	19503127		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19503127G>A	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1604C>T	5.37:g.19503127G>A	ENSP00000425093:p.Pro535Leu					CDH18_ENST00000506372.1_Missense_Mutation_p.P535L|CDH18_ENST00000511273.1_Missense_Mutation_p.P535L|CDH18_ENST00000382275.1_Missense_Mutation_p.P535L|CDH18_ENST00000502796.1_Missense_Mutation_p.P535L|CDH18_ENST00000274170.4_Missense_Mutation_p.P535L	p.P535L			Q13634	CAD18_HUMAN			13	2594	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		535			Cadherin 5.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.1604C>T	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123153	0.77436	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000511273	T;T;T;T;T;T	0.51325	0.71;0.71;0.71;2.08;2.08;2.08	5.18	5.18	0.71444	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.56124	0.1964	L	0.39020	1.185	0.80722	D	1	D;B	0.67145	0.996;0.055	P;B	0.61070	0.883;0.075	T	0.51442	-0.8705	9	.	.	.	.	17.6105	0.88051	0.0:0.0:1.0:0.0	.	535;535	B4DHG6;Q13634	.;CAD18_HUMAN	L	535	ENSP00000371710:P535L;ENSP00000425093:P535L;ENSP00000274170:P535L;ENSP00000424931:P535L;ENSP00000422138:P535L;ENSP00000425854:P535L	.	P	-	2	0	CDH18	19538884	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	8.347000	0.90062	2.573000	0.86826	0.650000	0.86243	CCA		0.348	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		13	121	0	0	0	1	0	13	121				
DCAF4L2	138009	broad.mit.edu	37	8	88885073	88885073	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr8:88885073C>T	ENST00000319675.3	-	1	1223	c.1127G>A	c.(1126-1128)cGa>cAa	p.R376Q		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	376								p.R376Q(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TGGTGCTCCTCGGAAGCCCCC	0.582																																						ENST00000319675.3																			1	Substitution - Missense(1)	p.R376Q(1)	prostate(1)	breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						c.(1126-1128)cGa>cAa		DDB1 and CUL4 associated factor 4-like 2							51.0	57.0	55.0					8																	88885073		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88885073C>T	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.1127G>A	8.37:g.88885073C>T	ENSP00000316496:p.Arg376Gln						p.R376Q	NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN			1	1223	-			376						Missense_Mutation	SNP	ENST00000319675.3	37	c.1127G>A	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.820986	0.32237	.	.	ENSG00000176566	ENST00000319675	T	0.20463	2.07	1.37	0.406	0.16366	.	0.269368	0.36703	N	0.002458	T	0.15825	0.0381	M	0.63428	1.95	0.26507	N	0.97467	B	0.24618	0.107	B	0.15870	0.014	T	0.10405	-1.0631	10	0.38643	T	0.18	.	3.2772	0.06902	0.0:0.5007:0.0:0.4993	.	376	Q8NA75	DC4L2_HUMAN	Q	376	ENSP00000316496:R376Q	ENSP00000316496:R376Q	R	-	2	0	DCAF4L2	88954189	0.621000	0.27077	0.058000	0.19502	0.448000	0.32197	0.233000	0.17911	0.735000	0.32537	0.467000	0.42956	CGA		0.582	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		44	57	0	0	0	1	0	44	57				
GPR157	80045	broad.mit.edu	37	1	9171452	9171452	+	Silent	SNP	G	G	A			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr1:9171452G>A	ENST00000377411.4	-	2	622	c.480C>T	c.(478-480)gaC>gaT	p.D160D	GPR157_ENST00000414642.2_Silent_p.D160D	NM_024980.4	NP_079256.4	Q5UAW9	GP157_HUMAN	G protein-coupled receptor 157	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D160D(1)		lung(4)|prostate(1)	5	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)		TGGCCTCCAGGTCGATCCAGC	0.617											OREG0013073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377411.4																			1	Substitution - coding silent(1)	p.D160D(1)	prostate(1)	lung(4)|prostate(1)	5						c.(478-480)gaC>gaT		G protein-coupled receptor 157							118.0	102.0	107.0					1																	9171452		2203	4300	6503	SO:0001819	synonymous_variant	80045					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:9171452G>A	AK022194	CCDS100.2	1p36.22	2012-08-21			ENSG00000180758	ENSG00000180758		"""GPCR / Class B : Orphans"""	23687	protein-coding gene	gene with protein product						10574461	Standard	XM_005263496		Approved	FLJ12132	uc001apq.1	Q5UAW9	OTTHUMG00000001758	ENST00000377411.4:c.480C>T	1.37:g.9171452G>A			OREG0013073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	654	GPR157_ENST00000414642.2_Silent_p.D160D	p.D160D	NM_024980.4	NP_079256.4	Q5UAW9	GP157_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)	2	622	-	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	160					A2A334|Q8WWB8|Q9HA73	Silent	SNP	ENST00000377411.4	37	c.480C>T	CCDS100.2																																																																																				0.617	GPR157-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127658.2	NM_024980		14	68	0	0	0	1	0	14	68				
HERC2P4	100289574	broad.mit.edu	37	16	32163607	32163607	+	IGR	SNP	G	G	A			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr16:32163607G>A								RP11-1166P10.6 (67501 upstream) : HERC2P4 (17697 downstream)																							AGCCAGGACCGCCATGAGGCC	0.602																																						ENST00000564145.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr16:32163607G>A																													16.37:g.32163607G>A														0	65	-									RNA	SNP		37																																																																																					0	0.602									4	7	0	0	0	1	0	4	7				
FCN1	2219	broad.mit.edu	37	9	137803057	137803057	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr9:137803057T>C	ENST00000371806.3	-	8	746	c.655A>G	c.(655-657)Aag>Gag	p.K219E		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	219	B domain; contributes to trimerization.|Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)	p.K219E(1)		endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GATTTGTACTTAGCAAACTGG	0.527																																						ENST00000371806.3																			1	Substitution - Missense(1)	p.K219E(1)	prostate(1)	endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(655-657)Aag>Gag		ficolin (collagen/fibrinogen domain containing) 1							245.0	234.0	238.0					9																	137803057		2203	4300	6503	SO:0001583	missense	2219				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	g.chr9:137803057T>C	D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"""Fibrinogen C domain containing"""	3623	protein-coding gene	gene with protein product		601252	"""ficolin (collagen/fibrinogen domain-containing) 1"""			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.655A>G	9.37:g.137803057T>C	ENSP00000360871:p.Lys219Glu						p.K219E	NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)	8	746	-		Myeloproliferative disorder(178;0.0333)	219			Fibrinogen C-terminal.		Q5VYV5|Q92596	Missense_Mutation	SNP	ENST00000371806.3	37	c.655A>G	CCDS6985.1	.	.	.	.	.	.	.	.	.	.	T	9.810	1.182846	0.21870	.	.	ENSG00000085265	ENST00000371806	T	0.76448	-1.02	3.4	2.23	0.28157	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	.	.	.	.	T	0.69913	0.3164	L	0.41710	1.295	0.34737	D	0.730334	P	0.34909	0.475	P	0.44561	0.453	T	0.67142	-0.5745	9	0.29301	T	0.29	.	2.9921	0.05987	0.2124:0.1216:0.0:0.666	.	219	O00602	FCN1_HUMAN	E	219	ENSP00000360871:K219E	ENSP00000360871:K219E	K	-	1	0	FCN1	136942878	1.000000	0.71417	0.925000	0.36789	0.001000	0.01503	1.972000	0.40540	0.500000	0.27991	-0.463000	0.05309	AAG		0.527	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	NM_002003		10	434	0	0	0	1	0	10	434				
DKK2	27123	broad.mit.edu	37	4	107845202	107845202	+	Missense_Mutation	SNP	C	C	T	rs539488952		TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr4:107845202C>T	ENST00000285311.3	-	4	1394	c.689G>A	c.(688-690)cGt>cAt	p.R230H	DKK2_ENST00000513208.1_Missense_Mutation_p.R130H|DKK2_ENST00000510463.1_Missense_Mutation_p.R184H	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	230	DKK-type Cys-2.				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)		p.R230H(3)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		ACAGTCGCAACGCTGGAAAAT	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		18840	0.001		0.0	False		,,,				2504	0.0					ENST00000285311.3																			3	Substitution - Missense(3)	p.R230H(3)	large_intestine(2)|prostate(1)	autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(688-690)cGt>cAt		dickkopf WNT signaling pathway inhibitor 2							161.0	147.0	152.0					4																	107845202		2203	4300	6503	SO:0001583	missense	27123				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		g.chr4:107845202C>T	AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"""dickkopf (Xenopus laevis) homolog 2"", ""dickkopf 2 homolog (Xenopus laevis)"""			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.689G>A	4.37:g.107845202C>T	ENSP00000285311:p.Arg230His					DKK2_ENST00000513208.1_Missense_Mutation_p.R130H|DKK2_ENST00000510463.1_Missense_Mutation_p.R184H	p.R230H	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)	4	1394	-		Hepatocellular(203;0.217)	230			DKK-type Cys-2.		A0AVE9|B2R6S7|Q9UIU3	Missense_Mutation	SNP	ENST00000285311.3	37	c.689G>A	CCDS3675.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.897895	0.91962	.	.	ENSG00000155011	ENST00000285311;ENST00000513208;ENST00000510463	T;T;T	0.57595	0.39;0.52;0.54	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.75361	0.3839	M	0.81341	2.54	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.77051	-0.2731	10	0.59425	D	0.04	-11.8314	19.6876	0.95986	0.0:1.0:0.0:0.0	.	230	Q9UBU2	DKK2_HUMAN	H	230;130;184	ENSP00000285311:R230H;ENSP00000421255:R130H;ENSP00000423797:R184H	ENSP00000285311:R230H	R	-	2	0	DKK2	108064651	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	7.487000	0.81328	2.657000	0.90304	0.585000	0.79938	CGT		0.488	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4			26	270	0	0	0	1	0	26	270				
NUTM1	256646	broad.mit.edu	37	15	34649647	34649647	+	Silent	SNP	C	C	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr15:34649647C>T	ENST00000333756.4	+	7	3509	c.3354C>T	c.(3352-3354)gaC>gaT	p.D1118D	NUTM1_ENST00000438749.3_Silent_p.D1136D|NUTM1_ENST00000537011.1_Silent_p.D1146D	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	1118						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D1118D(1)									GGCGGTGTGACAGTTTTGTCA	0.582																																						ENST00000537011.1																			1	Substitution - coding silent(1)	p.D1118D(1)	prostate(1)								c.(3436-3438)gaC>gaT		NUT midline carcinoma, family member 1							73.0	75.0	75.0					15																	34649647		2201	4298	6499	SO:0001819	synonymous_variant	256646							g.chr15:34649647C>T	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.3354C>T	15.37:g.34649647C>T						NUTM1_ENST00000333756.4_Silent_p.D1118D|NUTM1_ENST00000438749.3_Silent_p.D1136D	p.D1146D							8	3820	+								B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Silent	SNP	ENST00000333756.4	37	c.3438C>T	CCDS32190.1																																																																																				0.582	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		65	87	0	0	0	1	0	65	87				
PCDHB12	56124	broad.mit.edu	37	5	140588556	140588556	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr5:140588556C>T	ENST00000239450.2	+	1	266	c.77C>T	c.(76-78)gCg>gTg	p.A26V	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	26					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A26V(2)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGTCTCAGGCGGGCTCTGAA	0.498																																						ENST00000239450.2																			2	Substitution - Missense(2)	p.A26V(2)	prostate(1)|endometrium(1)	NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(76-78)gCg>gTg									101.0	105.0	103.0					5																	140588556		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140588556C>T	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.77C>T	5.37:g.140588556C>T	ENSP00000239450:p.Ala26Val					PCDHB12_ENST00000541609.1_Intron	p.A26V	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	266	+			26					B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.77C>T	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	C	0.118	-1.129551	0.01756	.	.	ENSG00000120328	ENST00000239450	T	0.50277	0.75	4.15	-0.23	0.13090	.	.	.	.	.	T	0.29458	0.0734	L	0.43152	1.355	0.09310	N	1	P	0.36633	0.562	B	0.27608	0.081	T	0.10823	-1.0613	9	0.30078	T	0.28	.	4.5049	0.11883	0.0:0.394:0.3041:0.3019	.	26	Q9Y5F1	PCDBC_HUMAN	V	26	ENSP00000239450:A26V	ENSP00000239450:A26V	A	+	2	0	PCDHB12	140568740	0.000000	0.05858	0.001000	0.08648	0.274000	0.26718	-0.071000	0.11505	-0.041000	0.13558	-0.367000	0.07326	GCG		0.498	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		4	142	0	0	0	1	0	4	142				
RPS6KA6	27330	broad.mit.edu	37	X	83411185	83411185	+	Silent	SNP	A	A	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chrX:83411185A>T	ENST00000262752.2	-	3	163	c.156T>A	c.(154-156)gtT>gtA	p.V52V	RPS6KA6_ENST00000543399.1_Silent_p.V52V	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	52					axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V52V(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						GGATTTCTTTAACAACTCCTT	0.353																																						ENST00000262752.2																			1	Substitution - coding silent(1)	p.V52V(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						c.(154-156)gtT>gtA		ribosomal protein S6 kinase, 90kDa, polypeptide 6							82.0	67.0	72.0					X																	83411185		2203	4300	6503	SO:0001819	synonymous_variant	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83411185A>T	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.156T>A	X.37:g.83411185A>T						RPS6KA6_ENST00000543399.1_Silent_p.V52V	p.V52V	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN			3	163	-			52					B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Silent	SNP	ENST00000262752.2	37	c.156T>A	CCDS14451.1																																																																																				0.353	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496		5	39	0	0	0	1	0	5	39				
MADD	8567	broad.mit.edu	37	11	47345221	47345221	+	Splice_Site	SNP	G	G	C			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr11:47345221G>C	ENST00000311027.5	+	31	4542		c.e31-1		MADD_ENST00000395344.3_Splice_Site|MADD_ENST00000402799.1_Splice_Site|MADD_ENST00000406482.1_Splice_Site|MADD_ENST00000342922.4_Splice_Site|MADD_ENST00000405573.2_Splice_Site|MADD_ENST00000402192.2_Splice_Site|MADD_ENST00000395336.3_Splice_Site|MADD_ENST00000407859.3_Splice_Site|MADD_ENST00000349238.3_Splice_Site	NM_003682.3	NP_003673.3			MAP-kinase activating death domain									p.?(2)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CACTTCTCCAGGTGTGCGATG	0.542																																						ENST00000342922.4																			2	Unknown(2)	p.?(2)	prostate(2)	breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84						c.e28-1		MAP-kinase activating death domain							177.0	129.0	145.0					11																	47345221		2201	4298	6499	SO:0001630	splice_region_variant	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47345221G>C	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.4378-1G>C	11.37:g.47345221G>C						MADD_ENST00000406482.1_Splice_Site|MADD_ENST00000405573.2_Splice_Site|MADD_ENST00000402799.1_Splice_Site|MADD_ENST00000402192.2_Splice_Site|MADD_ENST00000395336.3_Splice_Site|MADD_ENST00000395344.3_Splice_Site|MADD_ENST00000407859.3_Splice_Site|MADD_ENST00000349238.3_Splice_Site|MADD_ENST00000311027.5_Splice_Site		NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	28	4557	+									Splice_Site	SNP	ENST00000311027.5	37		CCDS7930.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.695000	0.68386	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192;ENST00000405573	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.903	0.96995	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MADD	47301797	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	8.947000	0.93000	2.705000	0.92388	0.549000	0.68633	.		0.542	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1		Intron	3	97	0	0	0	1	0	3	97				
DUSP13	51207	broad.mit.edu	37	10	76854507	76854507	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr10:76854507C>T	ENST00000472493.2	-	4	602	c.524G>A	c.(523-525)tGc>tAc	p.C175Y	DUSP13_ENST00000464872.1_Missense_Mutation_p.C124Y|DUSP13_ENST00000491677.2_Missense_Mutation_p.C304Y|DUSP13_ENST00000372700.3_Missense_Mutation_p.C225Y|DUSP13_ENST00000605915.1_Missense_Mutation_p.C197Y|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000607131.1_Missense_Mutation_p.C268Y|DUSP13_ENST00000478873.2_Missense_Mutation_p.C311Y|DUSP13_ENST00000607009.1_5'Flank	NM_016364.3	NP_057448.3	Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13	175	Tyrosine-protein phosphatase.				meiotic nuclear division (GO:0007126)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.C175Y(2)|p.C304Y(1)		large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TGAGTTAGGGCAGATATTGCG	0.617																																					NSCLC(174;1655 2059 12324 40663 42963)	ENST00000491677.2																			3	Substitution - Missense(3)	p.C175Y(2)|p.C304Y(1)	prostate(3)	large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8						c.(910-912)tGc>tAc		dual specificity phosphatase 13							84.0	65.0	72.0					10																	76854507		2203	4300	6503	SO:0001583	missense	0					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76854507C>T	AB027004	CCDS7346.1, CCDS31224.1, CCDS53542.1	10q23.1	2013-10-25			ENSG00000079393	ENSG00000079393		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	19681	protein-coding gene	gene with protein product		613191				10585869	Standard	XM_005269883		Approved	BEDP, TMDP, FLJ32450, DUSP13A, DUSP13B	uc001jwu.3	Q6B8I1	OTTHUMG00000018516	ENST00000472493.2:c.524G>A	10.37:g.76854507C>T	ENSP00000444580:p.Cys175Tyr					DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000372700.3_Missense_Mutation_p.C225Y|DUSP13_ENST00000605915.1_Missense_Mutation_p.C197Y|DUSP13_ENST00000607131.1_Missense_Mutation_p.C268Y|DUSP13_ENST00000464872.1_Missense_Mutation_p.C124Y|DUSP13_ENST00000478873.2_Missense_Mutation_p.C311Y|DUSP13_ENST00000472493.2_Missense_Mutation_p.C175Y	p.C304Y	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN			8	1453	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		166					A8K776|A8K782|B3KPY1|B3KXT0|B4DUK0|Q5JSC6|Q6IAR0|Q96GC2	Missense_Mutation	SNP	ENST00000472493.2	37	c.911G>A	CCDS7346.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.900078	0.52227	.	.	ENSG00000079393	ENST00000308475;ENST00000472493;ENST00000491677;ENST00000372698;ENST00000464872;ENST00000372700	T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22	5.52	5.52	0.82312	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.224335	0.53938	D	0.000044	T	0.64338	0.2589	L	0.47190	1.495	0.39509	D	0.96833	D;D;D	0.71674	0.995;0.998;0.992	P;D;P	0.73708	0.847;0.981;0.871	T	0.59757	-0.7394	10	0.02654	T	1	-3.9628	14.3042	0.66375	0.1485:0.8515:0.0:0.0	.	225;304;175	Q9UII6-4;F2Z2C4;Q9UII6	.;.;DUS13_HUMAN	Y	175;175;304;268;124;225	ENSP00000311051:C175Y;ENSP00000444580:C175Y;ENSP00000436312:C304Y;ENSP00000434041:C124Y;ENSP00000361785:C225Y	ENSP00000311051:C175Y	C	-	2	0	DUSP13	76524513	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.520000	0.35899	2.586000	0.87340	0.655000	0.94253	TGC		0.617	DUSP13-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048786.3			11	31	0	0	0	1	0	11	31				
ANKRD36C	400986	broad.mit.edu	37	2	96521777	96521777	+	Missense_Mutation	SNP	T	T	C	rs77768218		TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr2:96521777T>C	ENST00000456556.1	-	63	4316	c.4232A>G	c.(4231-4233)cAt>cGt	p.H1411R	ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R|ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	1411							ion channel inhibitor activity (GO:0008200)	p.H662R(6)|p.H1411R(3)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AAGGTCTTCATGCTTTCTTTT	0.383																																						ENST00000456556.1																			9	Substitution - Missense(9)	p.H662R(6)|p.H1411R(3)	kidney(6)|lung(3)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(4231-4233)cAt>cGt		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96521777T>C	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.4232A>G	2.37:g.96521777T>C	ENSP00000403302:p.His1411Arg					ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R|ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R	p.H1411R							63	4316	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.4232A>G		.	.	.	.	.	.	.	.	.	.	t	1.211	-0.629664	0.03610	.	.	ENSG00000174501	ENST00000420871;ENST00000456556;ENST00000419039	T;T;T	0.13196	2.61;2.61;2.61	1.87	0.665	0.17896	.	.	.	.	.	T	0.05731	0.0150	N	0.14661	0.345	0.09310	N	1	B	0.21071	0.051	B	0.15870	0.014	T	0.42666	-0.9438	9	0.15952	T	0.53	.	1.8453	0.03158	0.2739:0.1735:0.0:0.5526	.	1411	Q5JPF3	AN36C_HUMAN	R	662;1411;438	ENSP00000415231:H662R;ENSP00000403302:H1411R;ENSP00000407838:H438R	ENSP00000407838:H438R	H	-	2	0	AC073995.2	95885504	1.000000	0.71417	0.011000	0.14972	0.003000	0.03518	1.050000	0.30404	0.187000	0.20147	-0.818000	0.03119	CAT		0.383	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		3	49	0	0	0	1	0	3	49				
WDR64	128025	broad.mit.edu	37	1	241946665	241946665	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr1:241946665C>G	ENST00000366552.2	+	22	2864	c.2657C>G	c.(2656-2658)tCc>tGc	p.S886C	WDR64_ENST00000437684.2_Missense_Mutation_p.S719C	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	886								p.S886C(1)|p.S439C(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CTTACTGCCTCCATCGATGGC	0.393																																						ENST00000366552.2																			2	Substitution - Missense(2)	p.S886C(1)|p.S439C(1)	prostate(2)	breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(2656-2658)tCc>tGc		WD repeat domain 64							68.0	66.0	66.0					1																	241946665		2203	4300	6503	SO:0001583	missense	128025							g.chr1:241946665C>G	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.2657C>G	1.37:g.241946665C>G	ENSP00000355510:p.Ser886Cys					WDR64_ENST00000437684.2_Missense_Mutation_p.S719C	p.S886C	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		22	2864	+	Ovarian(103;0.103)	all_cancers(173;0.0121)	886					B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	37	c.2657C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.85|15.85	2.956251|2.956251	0.53293|0.53293	.|.	.|.	ENSG00000162843|ENSG00000162843	ENST00000425826|ENST00000366552;ENST00000437684;ENST00000414635	.|T;T;T	.|0.55234	.|1.92;0.53;4.64	5.82|5.82	5.82|5.82	0.92795|0.92795	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.000000	.|0.64402	.|D	.|0.000003	T|T	0.76190|0.76190	0.3953|0.3953	M|M	0.84948|0.84948	2.725|2.725	0.28784|0.28784	N|N	0.899676|0.899676	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.986	T|T	0.73914|0.73914	-0.3832|-0.3832	5|10	.|0.72032	.|D	.|0.01	-14.7717|-14.7717	17.0121|17.0121	0.86409|0.86409	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|886;439	.|B1ANS9;D1MPS4	.|WDR64_HUMAN;.	A|C	365|886;719;490	.|ENSP00000355510:S886C;ENSP00000402446:S719C;ENSP00000406656:S490C	.|ENSP00000355510:S886C	P|S	+|+	1|2	0|0	WDR64|WDR64	240013288|240013288	1.000000|1.000000	0.71417|0.71417	0.951000|0.951000	0.38953|0.38953	0.331000|0.331000	0.28603|0.28603	4.311000|4.311000	0.59147|0.59147	2.767000|2.767000	0.95098|0.95098	0.655000|0.655000	0.94253|0.94253	CCA|TCC		0.393	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625		4	82	0	0	0	1	0	4	82				
GRID2	2895	broad.mit.edu	37	4	94436522	94436522	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr4:94436522C>T	ENST00000282020.4	+	13	2411	c.2153C>T	c.(2152-2154)tCg>tTg	p.S718L	GRID2_ENST00000510992.1_Missense_Mutation_p.S623L	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	718					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.S718L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		AGCAATGGATCGGAGAACAAT	0.468																																						ENST00000282020.4																			1	Substitution - Missense(1)	p.S718L(1)	prostate(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2152-2154)tCg>tTg		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						132.0	113.0	119.0					4																	94436522		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94436522C>T	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.2153C>T	4.37:g.94436522C>T	ENSP00000282020:p.Ser718Leu					GRID2_ENST00000510992.1_Missense_Mutation_p.S623L	p.S718L	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	13	2411	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	718					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.2153C>T	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111066	0.37242	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.12039	2.72;2.72	5.07	5.07	0.68467	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.205916	0.41194	D	0.000924	T	0.11879	0.0289	L	0.31157	0.91	0.39807	D	0.972655	B;B	0.32693	0.38;0.38	B;B	0.20955	0.032;0.032	T	0.08371	-1.0725	10	0.72032	D	0.01	.	18.8016	0.92021	0.0:1.0:0.0:0.0	.	623;718	E9PH24;O43424	.;GRID2_HUMAN	L	718;623	ENSP00000282020:S718L;ENSP00000421257:S623L	ENSP00000282020:S718L	S	+	2	0	GRID2	94655545	0.994000	0.37717	0.594000	0.28785	0.486000	0.33341	3.727000	0.54984	2.523000	0.85059	0.585000	0.79938	TCG		0.468	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			4	122	0	0	0	1	0	4	122				
ALDH1A3	220	broad.mit.edu	37	15	101425511	101425511	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr15:101425511A>G	ENST00000329841.5	+	2	671	c.139A>G	c.(139-141)Aaa>Gaa	p.K47E	ALDH1A3_ENST00000346623.6_Missense_Mutation_p.K47E|RP11-66B24.8_ENST00000558568.1_lincRNA|ALDH1A3_ENST00000560555.1_3'UTR	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	47					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)	p.K47E(2)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	CAAGAGTGGGAAAAAGTTTGC	0.333																																						ENST00000329841.5																			2	Substitution - Missense(2)	p.K47E(2)	prostate(2)	NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27						c.(139-141)Aaa>Gaa		aldehyde dehydrogenase 1 family, member A3	NADH(DB00157)|Vitamin A(DB00162)						99.0	100.0	100.0					15																	101425511		2203	4300	6503	SO:0001583	missense	220				retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity	g.chr15:101425511A>G	U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"""Aldehyde dehydrogenases"""	409	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 3"""	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.139A>G	15.37:g.101425511A>G	ENSP00000332256:p.Lys47Glu					ALDH1A3_ENST00000560555.1_3'UTR|ALDH1A3_ENST00000346623.6_Missense_Mutation_p.K47E	p.K47E	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		2	671	+	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		47					Q6NT64	Missense_Mutation	SNP	ENST00000329841.5	37	c.139A>G	CCDS10389.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.418223	0.83449	.	.	ENSG00000184254	ENST00000329841;ENST00000415812;ENST00000346623	T	0.15139	2.45	5.71	5.71	0.89125	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.184196	0.64402	D	0.000018	T	0.17408	0.0418	N	0.04063	-0.285	0.28173	N	0.9285	P;B;B	0.52692	0.955;0.044;0.044	P;B;B	0.55615	0.78;0.082;0.044	T	0.13872	-1.0493	10	0.59425	D	0.04	.	15.6578	0.77155	1.0:0.0:0.0:0.0	.	58;47;47	Q7Z3A2;B2R5T2;P47895	.;.;AL1A3_HUMAN	E	47;47;58	ENSP00000332256:K47E	ENSP00000332256:K47E	K	+	1	0	ALDH1A3	99243034	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	8.510000	0.90532	2.179000	0.69175	0.459000	0.35465	AAA		0.333	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313620.2			33	88	0	0	0	1	0	33	88				
CALB2	794	broad.mit.edu	37	16	71419500	71419500	+	Silent	SNP	C	C	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr16:71419500C>T	ENST00000302628.4	+	10	725	c.648C>T	c.(646-648)gaC>gaT	p.D216D	CALB2_ENST00000349553.5_Missense_Mutation_p.T185M	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	216	EF-hand 5. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytosolic calcium ion homeostasis (GO:0051480)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.D216D(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				GCTACATTGACGAGCATGAGC	0.567																																						ENST00000349553.5																			2	Substitution - coding silent(2)	p.D216D(2)	haematopoietic_and_lymphoid_tissue(1)|prostate(1)	NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(553-555)aCg>aTg		calbindin 2							58.0	52.0	54.0					16																	71419500		2198	4300	6498	SO:0001819	synonymous_variant	794						calcium ion binding	g.chr16:71419500C>T	X56667	CCDS10899.1	16q22.2	2013-01-10	2008-05-19		ENSG00000172137	ENSG00000172137		"""EF-hand domain containing"""	1435	protein-coding gene	gene with protein product	"""calretinin"""	114051	"""calbindin 2, 29kDa (calretinin)"""			1906795	Standard	NM_001740		Approved	CAL2	uc002faa.4	P22676	OTTHUMG00000137589	ENST00000302628.4:c.648C>T	16.37:g.71419500C>T						CALB2_ENST00000302628.4_Silent_p.D216D	p.T185M	NM_007088.3	NP_009019.1	P22676	CALB2_HUMAN			8	634	+		Ovarian(137;0.125)	0			EF-hand 4.		A8K4Y1|Q53HD2|Q96BK4	Missense_Mutation	SNP	ENST00000302628.4	37	c.554C>T	CCDS10899.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.114761	0.56505	.	.	ENSG00000172137	ENST00000349553	D	0.81821	-1.54	6.15	-2.95	0.05564	.	.	.	.	.	T	0.71592	0.3358	.	.	.	0.24385	N	0.99478	B	0.02656	0.0	B	0.01281	0.0	T	0.60352	-0.7280	8	0.72032	D	0.01	-23.0477	12.6233	0.56616	0.0:0.4879:0.0:0.5121	.	185	A6NER6	.	M	185	ENSP00000340294:T185M	ENSP00000340294:T185M	T	+	2	0	CALB2	69977001	0.994000	0.37717	0.979000	0.43373	0.964000	0.63967	0.102000	0.15272	-0.536000	0.06298	-0.822000	0.03109	ACG		0.567	CALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268988.1	NM_001740		11	32	0	0	0	1	0	11	32				
FNDC3A	22862	broad.mit.edu	37	13	49776084	49776084	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr13:49776084G>T	ENST00000492622.2	+	24	3441	c.3136G>T	c.(3136-3138)Gtc>Ttc	p.V1046F	FNDC3A_ENST00000398316.3_Missense_Mutation_p.V990F|FNDC3A_ENST00000541916.1_Missense_Mutation_p.V1046F	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1046	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)	p.V1046F(1)		endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TCCAAAATCTGTCCCAGCTGC	0.318																																						ENST00000492622.2																			1	Substitution - Missense(1)	p.V1046F(1)	prostate(1)	endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41						c.(3136-3138)Gtc>Ttc		fibronectin type III domain containing 3A							72.0	74.0	73.0					13																	49776084		2203	4300	6503	SO:0001583	missense	22862					Golgi membrane|integral to membrane		g.chr13:49776084G>T	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.3136G>T	13.37:g.49776084G>T	ENSP00000417257:p.Val1046Phe					FNDC3A_ENST00000541916.1_Missense_Mutation_p.V1046F|FNDC3A_ENST00000398316.3_Missense_Mutation_p.V990F	p.V1046F	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	24	3441	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	1046					B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	c.3136G>T	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.675901	0.47886	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.56444	0.46;0.46;0.46	6.16	5.31	0.75309	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.211286	0.32287	N	0.006309	T	0.54415	0.1857	L	0.59436	1.845	0.40073	D	0.97603	B;B	0.28667	0.219;0.139	B;B	0.34722	0.188;0.092	T	0.56195	-0.8019	10	0.49607	T	0.09	-5.9102	15.2966	0.73913	0.0:0.2636:0.7364:0.0	.	990;1046	Q9Y2H6-2;Q9Y2H6	.;FND3A_HUMAN	F	1046;982;1046;990	ENSP00000417257:V1046F;ENSP00000441831:V1046F;ENSP00000381362:V990F	ENSP00000338579:V982F	V	+	1	0	FNDC3A	48674085	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.087000	0.50167	1.597000	0.50072	0.650000	0.86243	GTC		0.318	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		7	167	1	0	0.0381472	1	0.0396287	7	167				
TNXB	7148	broad.mit.edu	37	6	32021196	32021196	+	Silent	SNP	G	G	A			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr6:32021196G>A	ENST00000375244.3	-	25	8961	c.8760C>T	c.(8758-8760)cgC>cgT	p.R2920R	TNXB_ENST00000375247.2_Silent_p.R2918R			P22105	TENX_HUMAN	tenascin XB	2967	Fibronectin type-III 21. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.R2996R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGGGGCCCACGCGCTGGCCAC	0.632																																						ENST00000375244.3																			1	Substitution - coding silent(1)	p.R2996R(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(8758-8760)cgC>cgT		tenascin XB							39.0	40.0	40.0					6																	32021196		1229	2540	3769	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32021196G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.8760C>T	6.37:g.32021196G>A						TNXB_ENST00000375247.2_Silent_p.R2918R	p.R2920R			P22105	TENX_HUMAN			25	8961	-			2967			Fibronectin type-III 21.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.8760C>T																																																																																					0.632	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		5	15	0	0	0	1	0	5	15				
ZNF43	7594	broad.mit.edu	37	19	21990989	21990989	+	Missense_Mutation	SNP	G	G	C	rs150351501		TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr19:21990989G>C	ENST00000354959.4	-	4	2019	c.1850C>G	c.(1849-1851)aCt>aGt	p.T617S	ZNF43_ENST00000595461.1_Missense_Mutation_p.T611S|ZNF43_ENST00000598381.1_Missense_Mutation_p.T611S|ZNF43_ENST00000594012.1_Missense_Mutation_p.T611S	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	617					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T617S(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TTTTCCTCCAGTATGAATTTT	0.343																																						ENST00000594012.1																			1	Substitution - Missense(1)	p.T617S(1)	prostate(1)	autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51						c.(1831-1833)aCt>aGt		zinc finger protein 43							49.0	52.0	51.0					19																	21990989		2203	4297	6500	SO:0001583	missense	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21990989G>C	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1850C>G	19.37:g.21990989G>C	ENSP00000347045:p.Thr617Ser					ZNF43_ENST00000354959.4_Missense_Mutation_p.T617S|ZNF43_ENST00000598381.1_Missense_Mutation_p.T611S|ZNF43_ENST00000595461.1_Missense_Mutation_p.T611S	p.T611S	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	7	2346	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	617					A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	c.1832C>G	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	g	9.915	1.210463	0.22289	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.24151	1.87	1.76	0.506	0.16961	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22282	0.0537	L	0.31926	0.97	0.27892	N	0.93929	B	0.19445	0.036	B	0.33568	0.166	T	0.38329	-0.9666	9	0.59425	D	0.04	.	8.5104	0.33213	0.0:0.2433:0.7567:0.0	.	617	P17038	ZNF43_HUMAN	S	616;617	ENSP00000347045:T617S	ENSP00000347045:T617S	T	-	2	0	ZNF43	21782829	.	.	0.639000	0.29394	0.926000	0.56050	.	.	0.040000	0.15660	0.305000	0.20034	ACT		0.343	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		8	116	0	0	0	1	0	8	116				
DACT1	51339	broad.mit.edu	37	14	59113436	59113436	+	Missense_Mutation	SNP	C	C	T	rs370918124		TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr14:59113436C>T	ENST00000335867.4	+	4	2119	c.2095C>T	c.(2095-2097)Cgg>Tgg	p.R699W	DACT1_ENST00000395153.3_Missense_Mutation_p.R662W|DACT1_ENST00000556859.1_Missense_Mutation_p.R418W|DACT1_ENST00000541264.2_Missense_Mutation_p.R418W			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	699					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)	p.R699W(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GCGCGGTCGCCGGGAGAATGT	0.667																																						ENST00000395153.3																			1	Substitution - Missense(1)	p.R699W(1)	prostate(1)	endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						c.(1984-1986)Cgg>Tgg		dishevelled-binding antagonist of beta-catenin 1		C	TRP/ARG,TRP/ARG	1,4399		0,1,2199	20.0	24.0	23.0		1984,2095	-0.9	0.1	14		23	0,8590		0,0,4295	no	missense,missense	DACT1	NM_001079520.1,NM_016651.5	101,101	0,1,6494	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	662/800,699/837	59113436	1,12989	2200	4295	6495	SO:0001583	missense	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59113436C>T	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.2095C>T	14.37:g.59113436C>T	ENSP00000337439:p.Arg699Trp					DACT1_ENST00000335867.4_Missense_Mutation_p.R699W|DACT1_ENST00000395151.3_Missense_Mutation_p.R418W|DACT1_ENST00000556859.1_Missense_Mutation_p.R418W|DACT1_ENST00000541264.2_Missense_Mutation_p.R418W	p.R662W	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN			4	2131	+			699					A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	c.1984C>T	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.723430	0.48728	2.27E-4	0.0	ENSG00000165617	ENST00000556859;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79	5.63	-0.919	0.10478	.	0.058982	0.64402	D	0.000016	T	0.63558	0.2521	M	0.73598	2.24	0.20873	N	0.999831	D;D	0.89917	0.999;1.0	P;P	0.59703	0.862;0.862	T	0.68334	-0.5436	10	0.72032	D	0.01	-10.4175	18.8561	0.92252	0.5695:0.4305:0.0:0.0	.	662;699	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	W	418;418;662;699;418	ENSP00000451598:R418W;ENSP00000378581:R418W;ENSP00000378582:R662W;ENSP00000337439:R699W;ENSP00000442850:R418W	ENSP00000337439:R699W	R	+	1	2	DACT1	58183189	0.938000	0.31826	0.074000	0.20217	0.522000	0.34438	2.862000	0.48388	-0.033000	0.13736	0.563000	0.77884	CGG		0.667	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		3	53	0	0	0	1	0	3	53				
MB21D2	151963	broad.mit.edu	37	3	192517393	192517393	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr3:192517393G>T	ENST00000392452.2	-	2	578	c.258C>A	c.(256-258)taC>taA	p.Y86*		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	86							protein complex binding (GO:0032403)	p.Y84*(1)|p.Y86*(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						AGAGCAACAGGTATTCATTAG	0.453																																						ENST00000392452.2																			2	Substitution - Nonsense(2)	p.Y84*(1)|p.Y86*(1)	prostate(2)	endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						c.(256-258)taC>taA		Mab-21 domain containing 2							45.0	42.0	43.0					3																	192517393		2203	4300	6503	SO:0001587	stop_gained	151963							g.chr3:192517393G>T	AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.258C>A	3.37:g.192517393G>T	ENSP00000376246:p.Tyr86*						p.Y86*	NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN			2	578	-			86					Q86VD8	Nonsense_Mutation	SNP	ENST00000392452.2	37	c.258C>A	CCDS3302.2	.	.	.	.	.	.	.	.	.	.	G	38	6.742174	0.97805	.	.	ENSG00000180611	ENST00000392452	.	.	.	5.94	3.17	0.36434	.	0.123857	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.0435	0.30536	0.3092:0.0:0.6908:0.0	.	.	.	.	X	86	.	ENSP00000376246:Y86X	Y	-	3	2	MB21D2	194000087	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.012000	0.40932	0.836000	0.34901	0.650000	0.86243	TAC		0.453	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496		9	59	1	0	0.0692343	1	0.0712315	9	59				
TCEB3	6924	broad.mit.edu	37	1	24080617	24080617	+	Missense_Mutation	SNP	A	A	C	rs144826294	byFrequency	TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr1:24080617A>C	ENST00000418390.2	+	6	1914	c.1643A>C	c.(1642-1644)gAa>gCa	p.E548A	TCEB3_ENST00000609199.1_Missense_Mutation_p.E522A	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	548	Activation domain. {ECO:0000250}.				gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.E522A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GAAGAAGAAGAAGCTGGATTT	0.478													A|||	3	0.000599042	0.0023	0.0	5008	,	,		20871	0.0		0.0	False		,,,				2504	0.0					ENST00000418390.2																			1	Substitution - Missense(1)	p.E522A(1)	prostate(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19						c.(1642-1644)gAa>gCa		transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)		A	ALA/GLU	6,4400	11.4+/-27.6	0,6,2197	110.0	101.0	104.0		1643	5.7	1.0	1	dbSNP_134	104	2,8598	2.2+/-6.3	0,2,4298	yes	missense	TCEB3	NM_003198.2	107	0,8,6495	CC,CA,AA		0.0233,0.1362,0.0615	benign	548/799	24080617	8,12998	2203	4300	6503	SO:0001583	missense	6924				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding	g.chr1:24080617A>C	L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"""transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"""			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.1643A>C	1.37:g.24080617A>C	ENSP00000395574:p.Glu548Ala						p.E548A	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	6	1914	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	548			Activation domain (By similarity).		B2R7Q8|Q8IXH1	Missense_Mutation	SNP	ENST00000418390.2	37	c.1643A>C	CCDS239.2	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	A	25.2	4.610673	0.87258	0.001362	2.33E-4	ENSG00000011007	ENST00000418390	T	0.07688	3.17	5.71	5.71	0.89125	.	0.090906	0.47455	D	0.000228	T	0.06325	0.0163	N	0.25060	0.705	0.51012	D	0.999908	P	0.52577	0.954	P	0.47206	0.541	T	0.08597	-1.0714	10	0.66056	D	0.02	-23.7417	11.9106	0.52737	0.8547:0.1453:0.0:0.0	.	548	Q14241	ELOA1_HUMAN	A	548	ENSP00000395574:E548A	ENSP00000395574:E548A	E	+	2	0	TCEB3	23953204	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.120000	0.64685	2.179000	0.69175	0.379000	0.24179	GAA		0.478	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	NM_003198		5	189	0	0	0	1	0	5	189				
RTP5	285093	broad.mit.edu	37	2	242814653	242814653	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr2:242814653G>A	ENST00000343216.3	+	2	974	c.946G>A	c.(946-948)Gtc>Atc	p.V316I		NM_173821.2	NP_776182.2												p.V316I(1)									CAATGGCCTCGTCCCTGTGGG	0.657																																						ENST00000343216.3																			1	Substitution - Missense(1)	p.V316I(1)	prostate(1)								c.(946-948)Gtc>Atc		CXXC finger protein 11							40.0	46.0	44.0					2																	242814653		1990	4145	6135	SO:0001583	missense	285093					integral to membrane		g.chr2:242814653G>A																												ENST00000343216.3:c.946G>A	2.37:g.242814653G>A	ENSP00000345374:p.Val316Ile						p.V316I	NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN			2	974	+			316						Missense_Mutation	SNP	ENST00000343216.3	37	c.946G>A	CCDS42843.1	.	.	.	.	.	.	.	.	.	.	.	7.154	0.584278	0.13749	.	.	ENSG00000188011	ENST00000343216	T	0.25414	1.8	2.1	-1.33	0.09172	.	.	.	.	.	T	0.08626	0.0214	N	0.14661	0.345	0.09310	N	1	P	0.39737	0.685	B	0.25140	0.058	T	0.21861	-1.0233	9	0.29301	T	0.29	.	2.8023	0.05418	0.3534:0.2489:0.3976:0.0	.	316	Q14D33	CB085_HUMAN	I	316	ENSP00000345374:V316I	ENSP00000345374:V316I	V	+	1	0	C2orf85	242463326	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.292000	0.08332	-0.369000	0.08028	0.456000	0.33151	GTC		0.657	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322310.1			6	78	0	0	0	1	0	6	78				
STPG1	90529	broad.mit.edu	37	1	24706307	24706307	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr1:24706307G>C	ENST00000374409.1	-	5	552	c.298C>G	c.(298-300)Cga>Gga	p.R100G	STPG1_ENST00000003583.8_Missense_Mutation_p.R53G|STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000440416.1_Missense_Mutation_p.R53G|STPG1_ENST00000337248.4_Missense_Mutation_p.R100G	NM_001199012.1	NP_001185941.1	Q5TH74	STPG1_HUMAN	sperm-tail PG-rich repeat containing 1	100					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R53G(1)									GTGTCCAATCGGGCGCACTGT	0.423																																						ENST00000374409.1																			1	Substitution - Missense(1)	p.R53G(1)	prostate(1)								c.(298-300)Cga>Gga		sperm-tail PG-rich repeat containing 1							70.0	69.0	70.0					1																	24706307		2203	4300	6503	SO:0001583	missense	90529							g.chr1:24706307G>C	BC047705	CCDS253.1, CCDS55581.1	1p36.11	2012-10-31	2012-07-30	2012-07-30	ENSG00000001460	ENSG00000001460			28070	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 2"""	615826	"""chromosome 1 open reading frame 201"""	C1orf201		23028632	Standard	NM_001199012		Approved	FLJ33340, MAPO2	uc001bjc.3	Q5TH74	OTTHUMG00000003297	ENST00000374409.1:c.298C>G	1.37:g.24706307G>C	ENSP00000363530:p.Arg100Gly					STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000440416.1_Missense_Mutation_p.R53G|STPG1_ENST00000003583.8_Missense_Mutation_p.R53G|STPG1_ENST00000337248.4_Missense_Mutation_p.R100G	p.R100G	NM_001199012.1	NP_001185941.1					5	552	-								Q49AP0|Q6P3R4|Q86VU9|Q8WVQ3	Missense_Mutation	SNP	ENST00000374409.1	37	c.298C>G	CCDS55581.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.330804	0.24167	.	.	ENSG00000001460	ENST00000374409;ENST00000440416;ENST00000003583;ENST00000337248;ENST00000437986;ENST00000438866;ENST00000374404	.	.	.	5.79	3.83	0.44106	.	0.000000	0.64402	D	0.000004	T	0.65688	0.2715	M	0.76328	2.33	0.20926	N	0.999821	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.969	T	0.59434	-0.7455	9	0.87932	D	0	-40.5377	11.2939	0.49267	0.0:0.0:0.6687:0.3313	.	100;53	Q5TH74;Q5TH74-3	CA201_HUMAN;.	G	100;53;53;100;100;3;4	.	ENSP00000003583:R53G	R	-	1	2	C1orf201	24578894	0.997000	0.39634	0.057000	0.19452	0.014000	0.08584	2.419000	0.44671	0.710000	0.31997	0.563000	0.77884	CGA		0.423	STPG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009172.1	NM_178122		6	89	0	0	0	1	0	6	89				
MT-ND4	4538	broad.mit.edu	37	M	11775	11775	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chrM:11775G>A	ENST00000361381.2	+	1	1016	c.1016G>A	c.(1015-1017)aGt>aAt	p.S339N	MT-CYB_ENST00000361789.2_5'Flank|MT-TE_ENST00000387459.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-TH_ENST00000387441.1_RNA			P03905	NU4M_HUMAN	mitochondrially encoded NADH dehydrogenase 4	339					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						ACGCACTCACAGTCGCATCAT	0.493																																						ENST00000361381.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						c.(1015-1017)aGt>aAt		mitochondrially encoded NADH dehydrogenase 4																																				SO:0001583	missense	4538							g.chrM:11775G>A			mitochondria	2014-02-03	2005-02-15	2005-02-16	ENSG00000198886	ENSG00000198886	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7459	protein-coding gene	gene with protein product	"""complex I ND4 subunit"", ""NADH-ubiquinone oxidoreductase chain 4"""	516003	"""NADH dehydrogenase 4"", ""Leber optic neuropathy"""	MTND4, LHON		8103501	Standard			Approved	ND4, NAD4		P03905		ENST00000361381.2:c.1016G>A	M.37:g.11775G>A	ENSP00000354961:p.Ser339Asn						p.339_339insN							1	1016	+								Q6RL39|Q6RQN9|Q8HNR8	Missense_Mutation	SNP	ENST00000361381.2	37	c.1016G>A																																																																																					0.493	MT-ND4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024035		3	5	0	0	0	1	0	3	5				
KRTAP19-5	337972	broad.mit.edu	37	21	31874243	31874243	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr21:31874243G>A	ENST00000334151.2	-	1	192	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C		NM_181611.1	NP_853642.1	Q3LI72	KR195_HUMAN	keratin associated protein 19-5	56						intermediate filament (GO:0005882)		p.R56C(1)		endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1)	12						CGGCAGCTGCGGTATCCATAG	0.532																																						ENST00000334151.2																			1	Substitution - Missense(1)	p.R56C(1)	prostate(1)	endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1)	12						c.(166-168)Cgc>Tgc		keratin associated protein 19-5							114.0	112.0	113.0					21																	31874243		2203	4300	6503	SO:0001583	missense	337972					intermediate filament	protein binding	g.chr21:31874243G>A	AP001708	CCDS13597.1	21q22.1	2006-03-13			ENSG00000186977	ENSG00000186977		"""Keratin associated proteins"""	18940	protein-coding gene	gene with protein product						12359730	Standard	NM_181611		Approved	KAP19.5	uc011ada.2	Q3LI72	OTTHUMG00000057774	ENST00000334151.2:c.166C>T	21.37:g.31874243G>A	ENSP00000334985:p.Arg56Cys						p.R56C	NM_181611.1	NP_853642.1	Q3LI72	KR195_HUMAN			1	192	-			56					A4IF22	Missense_Mutation	SNP	ENST00000334151.2	37	c.166C>T	CCDS13597.1	.	.	.	.	.	.	.	.	.	.	G	9.183	1.023958	0.19433	.	.	ENSG00000186977	ENST00000334151	T	0.09723	2.95	4.5	1.39	0.22231	.	0.420710	0.17161	U	0.184697	T	0.07098	0.0180	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33420	-0.9869	9	0.87932	D	0	-0.0293	2.2886	0.04133	0.184:0.4961:0.199:0.1209	.	56	Q3LI72	KR195_HUMAN	C	56	ENSP00000334985:R56C	ENSP00000334985:R56C	R	-	1	0	KRTAP19-5	30796114	0.150000	0.22732	0.001000	0.08648	0.174000	0.22865	0.271000	0.18626	0.030000	0.15379	-0.340000	0.08031	CGC		0.532	KRTAP19-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128226.2			4	91	0	0	0	1	0	4	91				
ARSE	415	broad.mit.edu	37	X	2867523	2867523	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chrX:2867523G>A	ENST00000381134.3	-	6	742	c.676C>T	c.(676-678)Ccg>Tcg	p.P226S	ARSE_ENST00000540563.1_Missense_Mutation_p.P181S|ARSE_ENST00000545496.1_Missense_Mutation_p.P251S	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	226					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.P226S(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAGATGACCGGCATCCACGAG	0.542																																						ENST00000545496.1																			2	Substitution - Missense(2)	p.P226S(2)	prostate(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(751-753)Ccg>Tcg		arylsulfatase E (chondrodysplasia punctata 1)							154.0	112.0	127.0					X																	2867523		2203	4300	6503	SO:0001583	missense	415				skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding	g.chrX:2867523G>A	X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"""Arylsulfatase family"""	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.676C>T	X.37:g.2867523G>A	ENSP00000370526:p.Pro226Ser					ARSE_ENST00000540563.1_Missense_Mutation_p.P181S|ARSE_ENST00000381134.3_Missense_Mutation_p.P226S	p.P251S			P51690	ARSE_HUMAN			7	1042	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	226					Q53FT2|Q53FU8	Missense_Mutation	SNP	ENST00000381134.3	37	c.751C>T	CCDS14122.1	.	.	.	.	.	.	.	.	.	.	g	3.692	-0.063352	0.07273	.	.	ENSG00000157399	ENST00000540563;ENST00000545496;ENST00000381134	D;D;D	0.93426	-3.22;-3.22;-3.22	3.56	2.53	0.30540	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.517876	0.17444	N	0.174027	D	0.89030	0.6599	L	0.47716	1.5	0.09310	N	1	B;B;B	0.12630	0.005;0.005;0.006	B;B;B	0.23150	0.026;0.037;0.044	T	0.78775	-0.2072	10	0.30854	T	0.27	.	8.8263	0.35057	0.0:0.0:0.6551:0.3449	.	181;251;226	F5H324;F5GYY5;P51690	.;.;ARSE_HUMAN	S	181;251;226	ENSP00000438198:P181S;ENSP00000441417:P251S;ENSP00000370526:P226S	ENSP00000370526:P226S	P	-	1	0	ARSE	2877523	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.083000	0.11286	1.400000	0.46741	0.597000	0.82753	CCG		0.542	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	NM_000047		3	47	0	0	0	1	0	3	47				
COL6A3	1293	broad.mit.edu	37	2	238277502	238277502	+	Missense_Mutation	SNP	C	C	T	rs115765346		TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr2:238277502C>T	ENST00000295550.4	-	10	5056	c.4604G>A	c.(4603-4605)cGc>cAc	p.R1535H	COL6A3_ENST00000347401.3_Missense_Mutation_p.R1334H|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1335H|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1329H|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1329H|COL6A3_ENST00000472056.1_Missense_Mutation_p.R928H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1535	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R1535H(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTCTTCTATGCGACTCCCCGC	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		17997	0.001		0.0	False		,,,				2504	0.0					ENST00000295550.4																			1	Substitution - Missense(1)	p.R1535H(1)	prostate(1)	breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(4603-4605)cGc>cAc		collagen, type VI, alpha 3							73.0	73.0	73.0					2																	238277502		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238277502C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.4604G>A	2.37:g.238277502C>T	ENSP00000295550:p.Arg1535His					COL6A3_ENST00000346358.4_Missense_Mutation_p.R1335H|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1329H|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1334H|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1329H|COL6A3_ENST00000472056.1_Missense_Mutation_p.R928H	p.R1535H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	10	5056	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1535			Nonhelical region.|VWFA 8.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.4604G>A	CCDS33412.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	18.90	3.722331	0.68959	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33;-2.33	5.36	5.36	0.76844	von Willebrand factor, type A (3);	0.000000	0.53938	D	0.000056	D	0.96390	0.8822	H	0.98005	4.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.997	D	0.97905	1.0305	10	0.87932	D	0	.	19.1091	0.93310	0.0:1.0:0.0:0.0	.	928;1329;1535	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	H	1535;1334;1329;928;1329;1335	ENSP00000295550:R1535H;ENSP00000315609:R1334H;ENSP00000315873:R1329H;ENSP00000418285:R928H;ENSP00000386844:R1329H;ENSP00000295546:R1335H	ENSP00000295550:R1535H	R	-	2	0	COL6A3	237942241	1.000000	0.71417	0.999000	0.59377	0.574000	0.36063	7.755000	0.85180	2.512000	0.84698	0.655000	0.94253	CGC		0.592	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		4	184	0	0	0	1	0	4	184				
ARHGAP21	57584	broad.mit.edu	37	10	24889811	24889811	+	Missense_Mutation	SNP	G	G	A	rs369698657		TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr10:24889811G>A	ENST00000396432.2	-	14	3382	c.2896C>T	c.(2896-2898)Cgg>Tgg	p.R966W	ARHGAP21_ENST00000493154.1_Intron|ARHGAP21_ENST00000320481.6_Missense_Mutation_p.R753W	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	965	Interaction with ARF1 and ARF6.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.R966W(1)|p.R965W(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GAATGACCCCGAAGGACAACA	0.423																																						ENST00000396432.2																			2	Substitution - Missense(2)	p.R966W(1)|p.R965W(1)	prostate(2)	NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(2896-2898)Cgg>Tgg		Rho GTPase activating protein 21		G	TRP/ARG	0,4406		0,0,2203	108.0	105.0	106.0		2896	5.5	1.0	10		106	1,8599	1.2+/-3.3	0,1,4299	no	missense	ARHGAP21	NM_020824.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	966/1959	24889811	1,13005	2203	4300	6503	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24889811G>A	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.2896C>T	10.37:g.24889811G>A	ENSP00000379709:p.Arg966Trp					ARHGAP21_ENST00000493154.1_Intron|ARHGAP21_ENST00000320481.6_Missense_Mutation_p.R753W	p.R966W	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			14	3382	-			965			Interaction with ARF1 and ARF6.|PH.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.2896C>T	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361937	0.82353	0.0	1.16E-4	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	5.49	5.49	0.81192	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.121264	0.56097	D	0.000024	D	0.89591	0.6759	M	0.88704	2.975	0.52501	D	0.999959	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.91240	0.5021	10	0.87932	D	0	.	15.0346	0.71734	0.0:0.0:0.8573:0.1427	.	956;965	F8W9U9;Q5T5U3	.;RHG21_HUMAN	W	966;753;956;966;801	ENSP00000379709:R966W;ENSP00000365604:R753W;ENSP00000365592:R956W;ENSP00000405018:R966W	ENSP00000365604:R753W	R	-	1	2	ARHGAP21	24929817	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.817000	0.55668	2.571000	0.86741	0.655000	0.94253	CGG		0.423	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		14	146	0	0	0	1	0	14	146				
MSLNL	401827	broad.mit.edu	37	16	830489	830489	+	Intron	SNP	C	C	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr16:830489C>T	ENST00000442466.1	-	2	37				MSLNL_ENST00000293892.3_Missense_Mutation_p.R171H			Q96KJ4	MSLNL_HUMAN	mesothelin-like						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.R171H(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						TGGATGCGTGCGGGCACGCAT	0.552																																						ENST00000293892.3																			1	Substitution - Missense(1)	p.R171H(1)	prostate(1)	breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						c.(511-513)cGc>cAc		mesothelin-like							254.0	224.0	234.0					16																	830489		2177	4261	6438	SO:0001627	intron_variant	401827				cell adhesion	integral to membrane		g.chr16:830489C>T			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.38-327G>A	16.37:g.830489C>T						MSLNL_ENST00000442466.1_Intron	p.R171H			Q96KJ4	MSLNL_HUMAN			3	511	-			0						Missense_Mutation	SNP	ENST00000442466.1	37	c.512G>A		.	.	.	.	.	.	.	.	.	.	C	0.107	-1.144414	0.01728	.	.	ENSG00000162006	ENST00000293892	T	0.18960	2.18	1.02	-2.05	0.07321	.	.	.	.	.	T	0.11665	0.0284	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31251	-0.9950	5	.	.	.	.	3.0047	0.06025	0.0:0.3578:0.266:0.3762	.	.	.	.	H	171	ENSP00000293892:R171H	.	R	-	2	0	MSLNL	770490	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.827000	0.01704	-1.264000	0.02452	-0.507000	0.04495	CGC		0.552	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		13	156	0	0	0	1	0	13	156				
AIFM3	150209	broad.mit.edu	37	22	21330001	21330001	+	Missense_Mutation	SNP	G	G	T	rs143272206		TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr22:21330001G>T	ENST00000399167.2	+	9	981	c.741G>T	c.(739-741)gaG>gaT	p.E247D	AIFM3_ENST00000440238.2_Missense_Mutation_p.E247D|AIFM3_ENST00000335375.5_Missense_Mutation_p.E235D|AIFM3_ENST00000333607.6_Missense_Mutation_p.E247D|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000399163.2_Missense_Mutation_p.E247D|AIFM3_ENST00000405089.1_Missense_Mutation_p.E253D	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	247					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)	p.E247D(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CACAGCCTGAGCAGCTGGCCC	0.632																																						ENST00000399167.2																			1	Substitution - Missense(1)	p.E247D(1)	prostate(1)	breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(739-741)gaG>gaT		apoptosis-inducing factor, mitochondrion-associated, 3							78.0	74.0	76.0					22																	21330001		2203	4300	6503	SO:0001583	missense	150209							g.chr22:21330001G>T	AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.741G>T	22.37:g.21330001G>T	ENSP00000382120:p.Glu247Asp					AIFM3_ENST00000440238.2_Missense_Mutation_p.E247D|AIFM3_ENST00000333607.6_Missense_Mutation_p.E247D|AIFM3_ENST00000335375.5_Missense_Mutation_p.E235D|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000399163.2_Missense_Mutation_p.E247D|AIFM3_ENST00000405089.1_Missense_Mutation_p.E253D	p.E247D	NM_144704.2	NP_653305.1			LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		9	981	+	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)						B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Missense_Mutation	SNP	ENST00000399167.2	37	c.741G>T	CCDS13786.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630279	0.46944	.	.	ENSG00000183773	ENST00000399167;ENST00000399163;ENST00000434714;ENST00000405089;ENST00000335375;ENST00000440238;ENST00000333607	T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.65	2.03	0.26663	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.30634	0.0771	L	0.33485	1.01	0.58432	D	0.999997	B;B;B;B;B	0.23806	0.091;0.055;0.016;0.016;0.02	B;B;B;B;B	0.21360	0.034;0.029;0.017;0.017;0.029	T	0.05784	-1.0864	10	0.17369	T	0.5	-20.8613	7.9978	0.30277	0.2595:0.0:0.7405:0.0	.	235;235;253;247;247	B7Z9S7;B7Z376;Q96NN9-2;Q96NN9-3;Q96NN9	.;.;.;.;AIFM3_HUMAN	D	247;247;247;253;235;247;247	ENSP00000382120:E247D;ENSP00000382116:E247D;ENSP00000399657:E247D;ENSP00000385800:E253D;ENSP00000335369:E235D;ENSP00000390798:E247D;ENSP00000327671:E247D	ENSP00000327671:E247D	E	+	3	2	AIFM3	19660001	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	0.599000	0.24089	0.160000	0.19432	0.561000	0.74099	GAG		0.632	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704		11	129	1	0	0.000151284	1	0.000165178	11	129				
CCDC174	51244	broad.mit.edu	37	3	14703060	14703060	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr3:14703060C>T	ENST00000383794.3	+	5	404	c.331C>T	c.(331-333)Ctt>Ttt	p.L111F	CCDC174_ENST00000303688.7_Missense_Mutation_p.L111F	NM_016474.4	NP_057558.3	Q6PII3	CC174_HUMAN	coiled-coil domain containing 174	111						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L111F(1)									GGATATGTACCTTGTGGATTT	0.408																																						ENST00000383794.3																			1	Substitution - Missense(1)	p.L111F(1)	prostate(1)								c.(331-333)Ctt>Ttt		coiled-coil domain containing 174							138.0	134.0	135.0					3																	14703060		2203	4300	6503	SO:0001583	missense	51244							g.chr3:14703060C>T	AF151046	CCDS2620.2	3p25.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000154781	ENSG00000154781			28033	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 19"""	C3orf19		11042152	Standard	NM_016474		Approved	FLJ33839	uc003byw.3	Q6PII3	OTTHUMG00000129837	ENST00000383794.3:c.331C>T	3.37:g.14703060C>T	ENSP00000373304:p.Leu111Phe					CCDC174_ENST00000303688.7_Missense_Mutation_p.L111F	p.L111F	NM_016474.4	NP_057558.3					5	404	+								Q96CS5	Missense_Mutation	SNP	ENST00000383794.3	37	c.331C>T	CCDS2620.2	.	.	.	.	.	.	.	.	.	.	C	22.7	4.326458	0.81690	.	.	ENSG00000154781	ENST00000383794;ENST00000303688;ENST00000285042	T;T	0.59364	0.27;0.36	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.81403	0.4815	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84520	0.0627	10	0.66056	D	0.02	-26.9933	18.5057	0.90896	0.0:1.0:0.0:0.0	.	111	Q6PII3	CC019_HUMAN	F	111;111;16	ENSP00000373304:L111F;ENSP00000302344:L111F	ENSP00000285042:L16F	L	+	1	0	C3orf19	14678064	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.243000	0.58721	2.660000	0.90430	0.467000	0.42956	CTT		0.408	CCDC174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252077.2	NM_016474		5	180	0	0	0	1	0	5	180				
KIF20B	9585	broad.mit.edu	37	10	91470871	91470871	+	Missense_Mutation	SNP	G	G	A	rs199753491		TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr10:91470871G>A	ENST00000371728.3	+	6	709	c.644G>A	c.(643-645)aGc>aAc	p.S215N	KIF20B_ENST00000416354.1_Missense_Mutation_p.S215N|KIF20B_ENST00000260753.4_Missense_Mutation_p.S215N|KIF20B_ENST00000394289.2_Missense_Mutation_p.S215N	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	215	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)	p.S215N(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GAAATTGCTAGCAAAAGTGCA	0.313																																						ENST00000416354.1																			1	Substitution - Missense(1)	p.S215N(1)	prostate(1)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						c.(643-645)aGc>aAc		kinesin family member 20B		G	ASN/SER	0,4406		0,0,2203	66.0	72.0	70.0		644	-1.1	0.8	10		70	1,8597	1.2+/-3.3	0,1,4298	yes	missense	KIF20B	NM_016195.2	46	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	215/1781	91470871	1,13003	2203	4299	6502	SO:0001583	missense	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91470871G>A	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.644G>A	10.37:g.91470871G>A	ENSP00000360793:p.Ser215Asn					KIF20B_ENST00000260753.4_Missense_Mutation_p.S215N|KIF20B_ENST00000371728.3_Missense_Mutation_p.S215N|KIF20B_ENST00000394289.2_Missense_Mutation_p.S215N	p.S215N			Q96Q89	KI20B_HUMAN			6	716	+			215			Kinesin-motor.		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37	c.644G>A		.	.	.	.	.	.	.	.	.	.	G	8.637	0.894973	0.17613	0.0	1.16E-4	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728;ENST00000439656	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.39	-1.07	0.09968	Kinesin, motor domain (4);	0.771653	0.11732	N	0.534807	T	0.21347	0.0514	N	0.19112	0.55	0.09310	N	1	B;B	0.28400	0.21;0.028	B;B	0.35240	0.198;0.159	T	0.27571	-1.0070	10	0.12430	T	0.62	0.2028	0.6716	0.00859	0.3331:0.1039:0.2334:0.3297	.	215;215	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	N	215	ENSP00000260753:S215N;ENSP00000411545:S215N;ENSP00000377830:S215N;ENSP00000360793:S215N	ENSP00000260753:S215N	S	+	2	0	KIF20B	91460851	0.002000	0.14202	0.813000	0.32504	0.987000	0.75469	-0.043000	0.12043	-0.062000	0.13088	0.655000	0.94253	AGC		0.313	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		11	130	0	0	0	1	0	11	130				
RECQL5	9400	broad.mit.edu	37	17	73663474	73663474	+	5'Flank	SNP	C	C	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr17:73663474C>T	ENST00000317905.5	-	0	0				SAP30BP_ENST00000355423.3_Silent_p.L8L|SAP30BP_ENST00000584667.1_Silent_p.L8L|RECQL5_ENST00000420326.2_5'Flank|RECQL5_ENST00000340830.5_5'Flank|RECQL5_ENST00000584999.1_5'Flank|SAP30BP_ENST00000579864.1_3'UTR|RECQL5_ENST00000423245.2_5'Flank	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5						chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)	p.L8L(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GAAGAATGTTCTGTCGTCTCT	0.607								Other identified genes with known or suspected DNA repair function																														ENST00000584667.1																			1	Substitution - coding silent(1)	p.L8L(1)	prostate(1)	kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17						c.(22-24)Ctg>Ttg		SAP30 binding protein							77.0	76.0	76.0					17																	73663474		2203	4300	6503	SO:0001631	upstream_gene_variant	29115				apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr17:73663474C>T	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762			17.37:g.73663474C>T	Exception_encountered					SAP30BP_ENST00000579864.1_3'UTR|SAP30BP_ENST00000355423.3_Silent_p.L8L	p.L8L	NM_013260.6	NP_037392.1	Q9UHR5	S30BP_HUMAN	all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		1	279	+	all_cancers(13;6.42e-08)		8					Q9H0B1|Q9P1W7|Q9UNC8	Silent	SNP	ENST00000317905.5	37	c.22C>T	CCDS42380.1																																																																																				0.607	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259		5	53	0	0	0	1	0	5	53				
NUBPL	80224	broad.mit.edu	37	14	32295838	32295838	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr14:32295838C>T	ENST00000281081.7	+	8	656	c.611C>T	c.(610-612)gCt>gTt	p.A204V	NUBPL_ENST00000536705.1_Missense_Mutation_p.A108V|NUBPL_ENST00000418681.2_3'UTR	NM_001201573.1|NM_001201574.1|NM_025152.2	NP_001188502.1|NP_001188503.1|NP_079428.2	Q8TB37	NUBPL_HUMAN	nucleotide binding protein-like	204					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrion morphogenesis (GO:0070584)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.A174V(1)		endometrium(1)|lung(2)|prostate(1)|skin(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)		TGGCTAGGTGCTGTGATTGTC	0.428																																						ENST00000281081.7																			1	Substitution - Missense(1)	p.A174V(1)	prostate(1)	endometrium(1)|lung(2)|prostate(1)|skin(1)	5						c.(610-612)gCt>gTt		nucleotide binding protein-like							82.0	77.0	79.0					14																	32295838		1977	4170	6147	SO:0001583	missense	80224				mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis	mitochondrion	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding	g.chr14:32295838C>T	AK022722	CCDS41940.1	14q12	2012-10-12	2005-01-07	2005-01-07	ENSG00000151413	ENSG00000151413		"""Mitochondrial respiratory chain complex assembly factors"""	20278	protein-coding gene	gene with protein product	"""iron-sulfur protein required for NADH dehydrogenase"""	613621	"""chromosome 14 open reading frame 127"""	C14orf127			Standard	NM_025152		Approved	FLJ12660, IND1, huInd1	uc001wrk.4	Q8TB37	OTTHUMG00000170521	ENST00000281081.7:c.611C>T	14.37:g.32295838C>T	ENSP00000281081:p.Ala204Val					NUBPL_ENST00000536705.1_Missense_Mutation_p.A108V|NUBPL_ENST00000418681.2_3'UTR	p.A204V	NM_001201573.1|NM_001201574.1|NM_025152.2	NP_001188502.1|NP_001188503.1|NP_079428.2	Q8TB37	NUBPL_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)	8	656	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		204					B4DHZ1|Q86TZ4|Q9H9M2	Missense_Mutation	SNP	ENST00000281081.7	37	c.611C>T	CCDS41940.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004636	0.54254	.	.	ENSG00000151413	ENST00000281081;ENST00000536705	T;T	0.36520	1.25;1.25	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.43942	0.1270	M	0.68952	2.095	0.53688	D	0.999977	B;B	0.23591	0.055;0.088	B;B	0.30943	0.122;0.107	T	0.41698	-0.9494	10	0.87932	D	0	-30.0473	17.143	0.86759	0.0:1.0:0.0:0.0	.	108;204	B4DWB0;Q8TB37	.;NUBPL_HUMAN	V	204;108	ENSP00000281081:A204V;ENSP00000439286:A108V	ENSP00000281081:A204V	A	+	2	0	NUBPL	31365589	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	5.493000	0.66899	2.719000	0.93026	0.484000	0.47621	GCT		0.428	NUBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409519.1	NM_025152		24	94	0	0	0	1	0	24	94				
CACNA1E	777	broad.mit.edu	37	1	181727100	181727100	+	Silent	SNP	C	C	T	rs368943151		TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr1:181727100C>T	ENST00000367573.2	+	31	4347	c.4347C>T	c.(4345-4347)ttC>ttT	p.F1449F	CACNA1E_ENST00000357570.5_Silent_p.F1400F|CACNA1E_ENST00000526775.1_Silent_p.F1430F|CACNA1E_ENST00000360108.3_Silent_p.F1430F|CACNA1E_ENST00000367570.1_Silent_p.F1449F|CACNA1E_ENST00000367567.4_Silent_p.F1056F|CACNA1E_ENST00000358338.5_Silent_p.F1381F	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1449					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.F1449F(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCATCGACTTCGCCATCAGCG	0.522																																						ENST00000526775.1																			1	Substitution - coding silent(1)	p.F1449F(1)	prostate(1)	NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(4288-4290)ttC>ttT		calcium channel, voltage-dependent, R type, alpha 1E subunit		C	,,	2,4266		0,2,2132	143.0	149.0	147.0		4347,4347,4290	-1.9	1.0	1		147	0,8472		0,0,4236	no	coding-synonymous,coding-synonymous,coding-synonymous	CACNA1E	NM_000721.3,NM_001205293.1,NM_001205294.1	,,	0,2,6368	TT,TC,CC		0.0,0.0469,0.0157	,,	1449/2271,1449/2314,1430/2252	181727100	2,12738	2134	4236	6370	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181727100C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.4347C>T	1.37:g.181727100C>T						CACNA1E_ENST00000367567.4_Silent_p.F1056F|CACNA1E_ENST00000367573.2_Silent_p.F1449F|CACNA1E_ENST00000360108.3_Silent_p.F1430F|CACNA1E_ENST00000357570.5_Silent_p.F1400F|CACNA1E_ENST00000367570.1_Silent_p.F1449F|CACNA1E_ENST00000358338.5_Silent_p.F1381F	p.F1430F	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			30	4455	+			1449					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.4290C>T	CCDS55664.1																																																																																				0.522	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		14	122	0	0	0	1	0	14	122				
SPDYC	387778	broad.mit.edu	37	11	64939787	64939787	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr11:64939787G>A	ENST00000377185.2	+	4	411	c.329G>A	c.(328-330)aGc>aAc	p.S110N	AP003068.18_ENST00000534819.1_RNA	NM_001008778.1	NP_001008778.1			speedy/RINGO cell cycle regulator family member C									p.S110N(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						ACCCACAGCAGCCTGTTCTTG	0.612																																						ENST00000377185.2																			1	Substitution - Missense(1)	p.S110N(1)	prostate(1)	breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						c.(328-330)aGc>aAc		speedy/RINGO cell cycle regulator family member C							87.0	82.0	83.0					11																	64939787		2201	4297	6498	SO:0001583	missense	387778				cell cycle	nucleus	protein kinase binding	g.chr11:64939787G>A	AY820305	CCDS31606.1	11q13.1	2013-05-08	2013-05-08		ENSG00000204710	ENSG00000204710		"""Speedy homologs"""	32681	protein-coding gene	gene with protein product		614030	"""speedy homolog C (Xenopus laevis)"""			15611625	Standard	NM_001008778		Approved	Ringo2	uc010rnz.2	Q5MJ68	OTTHUMG00000165611	ENST00000377185.2:c.329G>A	11.37:g.64939787G>A	ENSP00000366390:p.Ser110Asn						p.S110N	NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN			4	411	+			110			Speedy/Ringo box; Required for CDK- binding (By similarity).			Missense_Mutation	SNP	ENST00000377185.2	37	c.329G>A	CCDS31606.1	.	.	.	.	.	.	.	.	.	.	G	0.904	-0.721339	0.03182	.	.	ENSG00000204710	ENST00000377185	.	.	.	4.17	-2.39	0.06602	.	0.125508	0.31347	N	0.007806	T	0.03783	0.0107	N	0.00044	-2.455	0.23210	N	0.998117	B	0.06786	0.001	B	0.04013	0.001	T	0.41520	-0.9504	9	0.02654	T	1	.	9.3647	0.38217	0.5459:0.0:0.4541:0.0	.	110	Q5MJ68	SPDYC_HUMAN	N	110	.	ENSP00000366390:S110N	S	+	2	0	SPDYC	64696363	0.989000	0.36119	0.002000	0.10522	0.948000	0.59901	2.019000	0.41001	-0.719000	0.04942	-0.793000	0.03317	AGC		0.612	SPDYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385299.1	NM_001008778		10	113	0	0	0	1	0	10	113				
DCST2	127579	broad.mit.edu	37	1	155005742	155005743	+	Splice_Site	INS	-	-	G			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr1:155005742_155005743insG	ENST00000368424.3	-	2	327		c.e2-2		DCST1_ENST00000295542.1_5'Flank|DCST1_ENST00000392480.1_5'Flank|DCST2_ENST00000295536.5_Splice_Site|DCST1_ENST00000368419.2_5'Flank|DCST1_ENST00000423025.2_5'Flank	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2							integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGCCCTGCCCTGGGGGCGACAG	0.569																																						ENST00000368424.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38						c.e2-2		DC-STAMP domain containing 2																																				SO:0001630	splice_region_variant	127579					integral to membrane		g.chr1:155005742_155005743insG	AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.269-2->C	1.37:g.155005747_155005747dupG						DCST2_ENST00000295536.5_Splice_Site		NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		2	327	-	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)							Q2M2R2|Q8N810|Q96M03	Splice_Site	INS	ENST00000368424.3	37		CCDS1082.2																																																																																				0.569	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622	Intron	25	46						25	46	---	---	---	---
LOC101927237	101927237	broad.mit.edu	37	4	68311853	68311855	+	lincRNA	DEL	GAG	GAG	-			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr4:68311853_68311855delGAG	ENST00000502400.1	-	0	34																											TCTCTATGGCGAGGAGGAGGAGG	0.547																																						ENST00000502400.1																			0																																																			0							g.chr4:68311853_68311855delGAG																													4.37:g.68311862_68311864delGAG														0	34	-									RNA	DEL	ENST00000502400.1	37																																																																																						0.547	RP11-584P21.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000361926.2			2	4						2	4	---	---	---	---
SMPD4P1	645280	broad.mit.edu	37	22	20975867	20975870	+	RNA	DEL	AATA	AATA	-	rs111319236	byFrequency	TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr22:20975867_20975870delAATA	ENST00000443839.1	-	0	1853_1856									sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) pseudogene 1																		AAGCATATGTAATACTCGAACGGA	0.559														279	0.0557109	0.0318	0.0533	5008	,	,		22885	0.0069		0.0974	False		,,,				2504	0.0971					ENST00000443839.1																			0																																																			0							g.chr22:20975867_20975870delAATA			22q11.21	2011-03-22			ENSG00000223553	ENSG00000223553			39673	pseudogene	pseudogene							Standard	NG_028286		Approved				OTTHUMG00000030245		22.37:g.20975867_20975870delAATA														0	1853_1856	-									RNA	DEL	ENST00000443839.1	37																																																																																						0.559	SMPD4P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319965.1			7	8						7	8	---	---	---	---
RPS4Y1	6192	broad.mit.edu	37	Y	2765368	2765369	+	IGR	INS	-	-	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chrY:2765368_2765369insT								RPS4Y1 (30059 upstream) : ZFY (37742 downstream)																							AGCAAAATTAGTTTTTTTTTTG	0.282																																						ENST00000515575.1																			0																																																	SO:0001628	intergenic_variant	0							g.chrY:2765368_2765369insT																													Y.37:g.2765378_2765378dupT														0	42	+									RNA	INS		37																																																																																					0	0.282									2	4						2	4	---	---	---	---
