#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
GPR37L1	9283	broad.mit.edu	37	1	202092707	202092707	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr1:202092707G>A	ENST00000367282.5	+	1	722	c.616G>A	c.(616-618)Gtg>Atg	p.V206M		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	206					negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.V206M(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						TTGTCGTGCCGTGCCCTTCAT	0.522																																						ENST00000367282.4																			1	Substitution - Missense(1)	p.V206M(1)	prostate(1)	central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						c.(616-618)Gtg>Atg		G protein-coupled receptor 37 like 1							98.0	94.0	95.0					1																	202092707		2202	4297	6499	SO:0001583	missense	9283					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr1:202092707G>A	AJ310210	CCDS1420.1	1q32	2012-08-21	2006-02-15		ENSG00000170075	ENSG00000170075		"""GPCR / Class A : Orphans"""	14923	protein-coding gene	gene with protein product						9539149	Standard	NM_004767		Approved	ETBR-LP-2	uc001gxj.3	O60883	OTTHUMG00000035924	ENST00000367282.5:c.616G>A	1.37:g.202092707G>A	ENSP00000356251:p.Val206Met						p.V206M	NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN			1	722	+			206					B2R7M9|Q5SXP7|Q86VP7	Missense_Mutation	SNP	ENST00000367282.5	37	c.616G>A	CCDS1420.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.084656	0.76642	.	.	ENSG00000170075	ENST00000541334;ENST00000367282	T	0.38887	1.11	4.77	4.77	0.60923	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.64204	0.2577	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68432	-0.5410	10	0.66056	D	0.02	-25.5229	17.784	0.88532	0.0:0.0:1.0:0.0	.	206	O60883	ETBR2_HUMAN	M	73;206	ENSP00000356251:V206M	ENSP00000356251:V206M	V	+	1	0	GPR37L1	200359330	1.000000	0.71417	0.973000	0.42090	0.866000	0.49608	9.854000	0.99522	2.175000	0.68902	0.313000	0.20887	GTG		0.522	GPR37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087496.2	NM_004767		6	150	0	0	0	0.217242	0	6	150				
KIAA0586	9786	broad.mit.edu	37	14	58896079	58896079	+	Splice_Site	SNP	A	A	G			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr14:58896079A>G	ENST00000556134.1	+	3	428		c.e3-1		KIAA0586_ENST00000261244.5_Splice_Site|TIMM9_ENST00000555593.1_5'Flank|RP11-517O13.1_ENST00000556734.1_RNA|TIMM9_ENST00000395159.2_5'Flank|KIAA0586_ENST00000354386.6_Splice_Site|TIMM9_ENST00000216463.4_5'Flank|TIMM9_ENST00000556007.2_5'Flank|KIAA0586_ENST00000423743.3_Splice_Site|TIMM9_ENST00000555404.1_5'Flank	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586						cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.?(2)		endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTGTTTTGTTAGGTTCATCAG	0.323																																						ENST00000423743.3																			2	Unknown(2)	p.?(2)	prostate(2)	endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.e2-1		KIAA0586							118.0	112.0	114.0					14																	58896079		1804	4069	5873	SO:0001630	splice_region_variant	9786							g.chr14:58896079A>G	AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.155-1A>G	14.37:g.58896079A>G						KIAA0586_ENST00000354386.6_Splice_Site|KIAA0586_ENST00000556134.1_Splice_Site|KIAA0586_ENST00000261244.5_Splice_Site		NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN			2	202	+								B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Splice_Site	SNP	ENST00000556134.1	37		CCDS58321.1	.	.	.	.	.	.	.	.	.	.	A	17.19	3.327527	0.60743	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000261244	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5721	0.50839	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA0586	57965832	0.999000	0.42202	0.976000	0.42696	0.888000	0.51559	3.863000	0.56016	2.291000	0.77112	0.533000	0.62120	.		0.323	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749	Intron	3	106	0	0	0	0.115264	0	3	106				
KIF1B	23095	broad.mit.edu	37	1	10363477	10363477	+	Intron	SNP	A	A	T			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr1:10363477A>T	ENST00000377086.1	+	22	2317				KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.Y745F|KIF1B_ENST00000377093.4_Missense_Mutation_p.Y745F			O60333	KIF1B_HUMAN	kinesin family member 1B						anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.Y745F(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GAGATTTGCTATGAGGTTGCT	0.438																																						ENST00000377093.4																			1	Substitution - Missense(1)	p.Y745F(1)	prostate(1)	breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(2233-2235)tAt>tTt		kinesin family member 1B							66.0	68.0	67.0					1																	10363477		2203	4300	6503	SO:0001627	intron_variant	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10363477A>T	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2115+6173A>T	1.37:g.10363477A>T						KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.Y745F	p.Y745F	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	21	2387	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	0					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.2234A>T		.	.	.	.	.	.	.	.	.	.	A	22.0	4.224504	0.79576	.	.	ENSG00000054523	ENST00000377093;ENST00000377083	T;T	0.73897	-0.79;-0.79	5.8	5.8	0.92144	.	.	.	.	.	D	0.86908	0.6046	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88625	0.3165	8	0.87932	D	0	.	16.2141	0.82191	1.0:0.0:0.0:0.0	.	745	O60333-3	.	F	745	ENSP00000366297:Y745F;ENSP00000366287:Y745F	ENSP00000366287:Y745F	Y	+	2	0	KIF1B	10286064	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.206000	0.95056	2.225000	0.72522	0.529000	0.55759	TAT		0.438	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			6	71	0	0	0	0.217242	0	6	71				
OR2G6	391211	broad.mit.edu	37	1	248685655	248685655	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr1:248685655G>C	ENST00000343414.4	+	1	740	c.708G>C	c.(706-708)aaG>aaC	p.K236N		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K236N(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCCGCCAAAAGGCCTTTGGGA	0.458																																						ENST00000343414.4																			1	Substitution - Missense(1)	p.K236N(1)	prostate(1)	NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(706-708)aaG>aaC		olfactory receptor, family 2, subfamily G, member 6							105.0	108.0	107.0					1																	248685655		2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685655G>C		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.708G>C	1.37:g.248685655G>C	ENSP00000341291:p.Lys236Asn						p.K236N	NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	740	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	236					B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.708G>C	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	12.67	2.006204	0.35415	.	.	ENSG00000188558	ENST00000343414	T	0.00374	7.72	3.83	-3.1	0.05315	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46442	U	0.000297	T	0.01320	0.0043	H	0.97732	4.065	0.25621	N	0.986393	D	0.89917	1.0	D	0.97110	1.0	T	0.04767	-1.0928	10	0.87932	D	0	.	10.5308	0.44975	0.6266:0.0:0.3734:0.0	.	236	Q5TZ20	OR2G6_HUMAN	N	236	ENSP00000341291:K236N	ENSP00000341291:K236N	K	+	3	2	OR2G6	246752278	0.489000	0.26004	0.063000	0.19743	0.393000	0.30537	-0.660000	0.05317	-0.671000	0.05274	0.400000	0.26472	AAG		0.458	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		17	65	0	0	0	0.520397	0	17	65				
PRICKLE2	166336	broad.mit.edu	37	3	64084858	64084858	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr3:64084858G>A	ENST00000295902.6	-	8	2989	c.2404C>T	c.(2404-2406)Cga>Tga	p.R802*	PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Nonsense_Mutation_p.R858*	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	802					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.R802*(1)		breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GTGACGTATCGCAGGCGCGCT	0.552																																						ENST00000295902.6																			1	Substitution - Nonsense(1)	p.R802*(1)	prostate(1)	breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(2404-2406)Cga>Tga		prickle homolog 2 (Drosophila)							88.0	86.0	87.0					3																	64084858		2203	4300	6503	SO:0001587	stop_gained	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64084858G>A	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.2404C>T	3.37:g.64084858G>A	ENSP00000295902:p.Arg802*					RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Nonsense_Mutation_p.R858*	p.R802*	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	8	2989	-		Lung NSC(201;0.136)	802					Q0VF44	Nonsense_Mutation	SNP	ENST00000295902.6	37	c.2404C>T	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	G	45	11.490453	0.99567	.	.	ENSG00000163637	ENST00000295902	.	.	.	5.63	5.63	0.86233	.	0.098510	0.42420	D	0.000717	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.2872	14.51	0.67780	0.0:0.0:0.8534:0.1466	.	.	.	.	X	802	.	ENSP00000295902:R802X	R	-	1	2	PRICKLE2	64059898	1.000000	0.71417	0.996000	0.52242	0.768000	0.43524	5.983000	0.70540	2.663000	0.90544	0.655000	0.94253	CGA		0.552	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		4	91	0	0	0	0.184627	0	4	91				
HIST1H2BK	85236	broad.mit.edu	37	6	27114573	27114573	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr6:27114573G>A	ENST00000356950.1	-	1	4	c.5C>T	c.(4-6)cCg>cTg	p.P2L	HIST1H2BK_ENST00000396891.4_Missense_Mutation_p.P2L|HIST1H2AH_ENST00000377459.1_5'Flank|MIR3143_ENST00000584253.1_RNA			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	2					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P2L(2)		breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CGCTGGTTCCGGCATGTTGAA	0.567																																						ENST00000396891.4																			2	Substitution - Missense(2)	p.P2L(2)	prostate(2)	breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(4-6)cCg>cTg		histone cluster 1, H2bk							48.0	48.0	48.0					6																	27114573		2203	4300	6503	SO:0001583	missense	85236				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27114573G>A	AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"""Histones / Replication-dependent"""	13954	protein-coding gene	gene with protein product		615045	"""H2B histone family, member T"", ""histone 1, H2bk"""	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.5C>T	6.37:g.27114573G>A	ENSP00000349430:p.Pro2Leu					HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.P2L	p.P2L	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN			1	46	-			2					A8K7P7|Q2VPI7	Missense_Mutation	SNP	ENST00000356950.1	37	c.5C>T	CCDS4621.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.102254	0.37145	.	.	ENSG00000197903	ENST00000396891;ENST00000356950	T;T	0.19532	2.14;2.14	4.05	2.15	0.27550	.	.	.	.	.	T	0.16385	0.0394	M	0.89287	3.02	0.47441	D	0.999429	B	0.26120	0.142	B	0.09377	0.004	T	0.10382	-1.0632	9	0.87932	D	0	.	12.1349	0.53966	0.0:0.3325:0.6675:0.0	.	2	O60814	H2B1K_HUMAN	L	2	ENSP00000380100:P2L;ENSP00000349430:P2L	ENSP00000349430:P2L	P	-	2	0	HIST1H2BK	27222552	1.000000	0.71417	0.583000	0.28640	0.075000	0.17131	5.385000	0.66231	0.399000	0.25367	0.650000	0.86243	CCG		0.567	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040141.1	NM_080593		3	76	0	0	0	0.115264	0	3	76				
ZNF562	54811	broad.mit.edu	37	19	9771402	9771402	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr19:9771402A>T	ENST00000448622.1	-	2	181	c.19T>A	c.(19-21)Tcc>Acc	p.S7T	ZNF562_ENST00000453792.2_Intron|ZNF562_ENST00000590155.1_Missense_Mutation_p.S7T|ZNF562_ENST00000587392.1_Missense_Mutation_p.S7T|ZNF562_ENST00000453372.2_Missense_Mutation_p.S7T|ZNF562_ENST00000293648.4_Missense_Mutation_p.S7T|ZNF562_ENST00000541032.1_5'UTR|ZNF562_ENST00000537617.1_5'UTR	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	7					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.S7T(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						TTACCATGGGACATATCAAAG	0.488																																						ENST00000448622.1																			2	Substitution - Missense(2)	p.S7T(2)	prostate(2)	NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(19-21)Tcc>Acc		zinc finger protein 562							270.0	229.0	243.0					19																	9771402		2203	4300	6503	SO:0001583	missense	54811				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9771402A>T	AK000086	CCDS12217.1, CCDS45956.1, CCDS74280.1	19p13.2	2013-09-20			ENSG00000171466	ENSG00000171466		"""Zinc fingers, C2H2-type"", ""-"""	25950	protein-coding gene	gene with protein product							Standard	NM_001130031		Approved	FLJ20079	uc010xks.2	Q6V9R5	OTTHUMG00000180205	ENST00000448622.1:c.19T>A	19.37:g.9771402A>T	ENSP00000411784:p.Ser7Thr					ZNF562_ENST00000587392.1_Missense_Mutation_p.S7T|ZNF562_ENST00000541032.1_5'UTR|ZNF562_ENST00000590155.1_Missense_Mutation_p.S7T|ZNF562_ENST00000453372.2_Missense_Mutation_p.S7T|ZNF562_ENST00000537617.1_5'UTR|ZNF562_ENST00000293648.4_Missense_Mutation_p.S7T|ZNF562_ENST00000453792.2_Intron	p.S7T	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN			2	181	-			7					Q32MN2|Q9NXS5	Missense_Mutation	SNP	ENST00000448622.1	37	c.19T>A	CCDS45956.1	.	.	.	.	.	.	.	.	.	.	A	4.257	0.046716	0.08243	.	.	ENSG00000171466	ENST00000453372;ENST00000448622;ENST00000293648	T;T;T	0.09723	2.95;2.95;3.23	1.55	1.55	0.23275	.	.	.	.	.	T	0.15739	0.0379	L	0.29908	0.895	0.19575	N	0.999966	P;P;B	0.46578	0.805;0.88;0.0	P;P;B	0.62184	0.827;0.899;0.0	T	0.14559	-1.0468	9	0.45353	T	0.12	.	5.182	0.15165	1.0:0.0:0.0:0.0	.	7;7;7	B4DMG0;Q6V9R5;Q6V9R5-2	.;ZN562_HUMAN;.	T	7	ENSP00000410734:S7T;ENSP00000411784:S7T;ENSP00000293648:S7T	ENSP00000293648:S7T	S	-	1	0	ZNF562	9632402	0.000000	0.05858	0.003000	0.11579	0.022000	0.10575	-0.363000	0.07593	0.958000	0.37956	0.254000	0.18369	TCC		0.488	ZNF562-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450239.1	NM_017656		5	213	0	0	0	0.217242	0	5	213				
NUDT10	170685	broad.mit.edu	37	X	51076024	51076024	+	Silent	SNP	G	G	A	rs143435240		TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	234					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657																																					NSCLC(90;1817 2035 37909 38249)	ENST00000376006.3																			8	Substitution - coding silent(8)	p.E69E(8)	endometrium(5)|cervix(1)|prostate(1)|lung(1)	cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(205-207)gaG>gaA		nudix (nucleoside diphosphate linked moiety X)-type motif 10							52.0	62.0	59.0					X																	51076024		2203	4300	6503	SO:0001819	synonymous_variant	170685					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51076024G>A	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"""Nudix motif containing"""	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.207G>A	X.37:g.51076024G>A						NUDT10_ENST00000356450.2_Silent_p.E69E	p.E69E	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN			2	427	+	Ovarian(276;0.236)		69			Nudix hydrolase.		Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	c.207G>A	CCDS35278.1																																																																																				0.657	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183		3	33	0	0	0	0.115264	0	3	33				
ZNF292	23036	broad.mit.edu	37	6	87943091	87943091	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr6:87943091T>A	ENST00000369577.3	+	5	630	c.587T>A	c.(586-588)aTt>aAt	p.I196N	ZNF292_ENST00000339907.4_Missense_Mutation_p.I191N	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	196						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.I196N(1)|p.I51N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GATATGAGAATTAAACATCTA	0.313																																						ENST00000369577.3																			2	Substitution - Missense(2)	p.I196N(1)|p.I51N(1)	prostate(2)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(586-588)aTt>aAt		zinc finger protein 292							86.0	82.0	83.0					6																	87943091		1827	4077	5904	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87943091T>A	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.587T>A	6.37:g.87943091T>A	ENSP00000358590:p.Ile196Asn					ZNF292_ENST00000339907.4_Missense_Mutation_p.I191N	p.I196N	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	5	630	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	196					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.587T>A	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.254450	0.80135	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.12039	2.72;2.74	5.36	5.36	0.76844	.	0.048603	0.85682	D	0.000000	T	0.27524	0.0676	M	0.65498	2.005	0.44515	D	0.997467	D	0.89917	1.0	D	0.80764	0.994	T	0.02698	-1.1122	10	0.87932	D	0	.	15.658	0.77158	0.0:0.0:0.0:1.0	.	196	O60281	ZN292_HUMAN	N	196;191	ENSP00000358590:I196N;ENSP00000342847:I191N	ENSP00000342847:I191N	I	+	2	0	ZNF292	87999810	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.183000	0.77697	2.158000	0.67659	0.460000	0.39030	ATT		0.313	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		3	69	0	0	0	0.115264	0	3	69				
APOPT1	84334	broad.mit.edu	37	14	104056568	104056568	+	Missense_Mutation	SNP	C	C	A	rs529483936		TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr14:104056568C>A	ENST00000409074.2	+	5	567	c.566C>A	c.(565-567)gCc>gAc	p.A189D	APOPT1_ENST00000556253.2_3'UTR|RP11-73M18.2_ENST00000472726.2_Intron|APOPT1_ENST00000247618.4_Missense_Mutation_p.A176D|APOPT1_ENST00000477116.1_3'UTR	NM_032374.3	NP_115750.2	Q96IL0	APOP1_HUMAN	apoptogenic 1, mitochondrial	189					intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)	mitochondrion (GO:0005739)											GGAAAAGTGGCCCTGGAAAGG	0.498																																						ENST00000409074.2																			0											c.(565-567)gCc>gAc		apoptogenic 1, mitochondrial							165.0	167.0	167.0					14																	104056568		2203	4300	6503	SO:0001583	missense	84334							g.chr14:104056568C>A	BC007412	CCDS9983.2	14q32.33	2012-06-28	2012-06-28	2011-09-07	ENSG00000256053	ENSG00000256053			20492	protein-coding gene	gene with protein product	"""apoptogenic protein 1"""		"""chromosome 14 open reading frame 153"", ""apoptogenic 1"""	C14orf153		16782708, 18977203	Standard	NM_032374		Approved	MGC2562, APOP-1		Q96IL0	OTTHUMG00000153929	ENST00000409074.2:c.566C>A	14.37:g.104056568C>A	ENSP00000386485:p.Ala189Asp					APOPT1_ENST00000247618.4_Missense_Mutation_p.A176D|RP11-73M18.2_ENST00000472726.2_Intron|APOPT1_ENST00000556253.2_3'UTR|APOPT1_ENST00000477116.1_3'UTR	p.A189D	NM_032374.3	NP_115750.2					5	567	+								Q53G28	Missense_Mutation	SNP	ENST00000409074.2	37	c.566C>A	CCDS9983.2	.	.	.	.	.	.	.	.	.	.	C	13.92	2.382272	0.42207	.	.	ENSG00000256053;ENSG00000256053;ENSG00000256500	ENST00000409074;ENST00000440963;ENST00000247618	T;T;T	0.41065	1.01;1.01;1.01	5.66	2.85	0.33270	.	0.215910	0.37715	N	0.001961	T	0.30039	0.0752	L	0.34521	1.04	0.24980	N	0.9916	P	0.43477	0.808	B	0.41135	0.348	T	0.08472	-1.0720	10	0.35671	T	0.21	.	8.2787	0.31887	0.0:0.7491:0.0:0.2509	.	189	Q96IL0	APOP1_HUMAN	D	189;101;176	ENSP00000386485:A189D;ENSP00000388067:A101D;ENSP00000247618:A176D	ENSP00000247618:A176D	A	+	2	0	C14orf153;RP11-73M18.2	103126321	0.985000	0.35326	0.518000	0.27811	0.203000	0.24098	1.723000	0.38053	0.321000	0.23259	-0.136000	0.14681	GCC		0.498	APOPT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333060.2	NM_032374		4	191	1	0	0.150653	0.150653	0.159023	4	191				
CCT8L2	150160	broad.mit.edu	37	22	17072553	17072553	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr22:17072553C>A	ENST00000359963.3	-	1	1147	c.888G>T	c.(886-888)ttG>ttT	p.L296F		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	296					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CGACCTCCCCCAACACCACTG	0.493																																						ENST00000359963.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(886-888)ttG>ttT		chaperonin containing TCP1, subunit 8 (theta)-like 2							207.0	184.0	192.0					22																	17072553		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072553C>A	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.888G>T	22.37:g.17072553C>A	ENSP00000353048:p.Leu296Phe						p.L296F	NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN			1	1147	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	296					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.888G>T	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	c	10.10	1.256471	0.22965	.	.	ENSG00000198445	ENST00000359963	T	0.78816	-1.21	1.98	1.98	0.26296	.	0.697010	0.11886	U	0.520009	T	0.62392	0.2424	N	0.22421	0.69	0.23700	N	0.997075	B	0.25904	0.137	B	0.23018	0.043	T	0.55541	-0.8125	10	0.56958	D	0.05	-6.2386	7.4423	0.27190	0.0:1.0:0.0:0.0	.	296	Q96SF2	TCPQM_HUMAN	F	296	ENSP00000353048:L296F	ENSP00000353048:L296F	L	-	3	2	CCT8L2	15452553	0.359000	0.24955	0.286000	0.24833	0.029000	0.11900	0.793000	0.26944	1.115000	0.41800	0.379000	0.24179	TTG		0.493	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			5	233	1	0	0.00116845	0.217242	0.00138753	5	233				
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs200214744|rs565505867	byFrequency	TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662																																						ENST00000391413.2																			4	Substitution - Missense(4)	p.M93V(4)	endometrium(3)|kidney(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(277-279)Atg>Gtg		keratin associated protein 4-11							6.0	10.0	8.0					17																	39274291		651	1556	2207	SO:0001583	missense	653240					keratin filament		g.chr17:39274291T>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.277A>G	17.37:g.39274291T>C	ENSP00000375232:p.Met93Val						p.M93V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	315	-		Breast(137;0.000496)	93			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.277A>G	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	0.073	-1.199029	0.01581	.	.	ENSG00000212721	ENST00000391413	T	0.00580	6.43	4.25	-4.9	0.03094	.	.	.	.	.	T	0.00109	0.0003	N	0.00040	-2.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43097	-0.9412	9	0.02654	T	1	.	0.4739	0.00536	0.3479:0.2455:0.1203:0.2863	.	93	Q9BYQ6	KR411_HUMAN	V	93	ENSP00000375232:M93V	ENSP00000375232:M93V	M	-	1	0	KRTAP4-11	36527817	.	.	0.012000	0.15200	0.010000	0.07245	.	.	-1.319000	0.02286	-1.132000	0.01976	ATG		0.662	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			3	44	0	0	0	0.184627	0	3	44				
ATP5B	506	broad.mit.edu	37	12	57032140	57032140	+	Silent	SNP	T	T	C			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr12:57032140T>C	ENST00000262030.3	-	10	1607	c.1557A>G	c.(1555-1557)aaA>aaG	p.K519K	BAZ2A_ENST00000379441.3_5'Flank|ATP5B_ENST00000552919.1_Silent_p.K508K|BAZ2A_ENST00000179765.5_5'Flank|ATP5B_ENST00000550162.1_5'Flank|BAZ2A_ENST00000551812.1_5'Flank	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	519					angiogenesis (GO:0001525)|ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|osteoblast differentiation (GO:0001649)|proton transport (GO:0015992)|regulation of intracellular pH (GO:0051453)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial nucleoid (GO:0042645)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase, catalytic core (GO:0005754)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCTTATCAGCTTTTGCCACAG	0.448																																						ENST00000262030.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1555-1557)aaA>aaG		ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide							183.0	172.0	176.0					12																	57032140		2203	4300	6503	SO:0001819	synonymous_variant	506				angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr12:57032140T>C	M27132	CCDS8924.1	12p13.3	2012-10-12			ENSG00000110955	ENSG00000110955	3.6.3.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	830	protein-coding gene	gene with protein product		102910		ATPSB		2687158	Standard	NM_001686		Approved		uc001slr.3	P06576	OTTHUMG00000170291	ENST00000262030.3:c.1557A>G	12.37:g.57032140T>C						ATP5B_ENST00000552919.1_Silent_p.K508K	p.K519K	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN			10	1607	-			519					A8K4X0|Q14283	Silent	SNP	ENST00000262030.3	37	c.1557A>G	CCDS8924.1																																																																																				0.448	ATP5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408380.1	NM_001686		3	215	0	0	0	0.150653	0	3	215				
CCDC105	126402	broad.mit.edu	37	19	15131324	15131324	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr19:15131324C>A	ENST00000292574.3	+	3	809	c.727C>A	c.(727-729)Caa>Aaa	p.Q243K		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	243						extracellular vesicular exosome (GO:0070062)		p.Q243K(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						GGAGCGGCTCCAAGCCGTGGA	0.617																																						ENST00000292574.3																			1	Substitution - Missense(1)	p.Q243K(1)	prostate(1)	NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						c.(727-729)Caa>Aaa		coiled-coil domain containing 105							51.0	46.0	48.0					19																	15131324		2203	4300	6503	SO:0001583	missense	126402				microtubule cytoskeleton organization	microtubule		g.chr19:15131324C>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.727C>A	19.37:g.15131324C>A	ENSP00000292574:p.Gln243Lys						p.Q243K	NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN			3	809	+			243					Q8N7T5|Q8NDL5	Missense_Mutation	SNP	ENST00000292574.3	37	c.727C>A	CCDS12322.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869690	0.33069	.	.	ENSG00000160994	ENST00000292574	T	0.02323	4.34	4.09	4.09	0.47781	.	0.000000	0.50627	D	0.000113	T	0.09024	0.0223	M	0.65975	2.015	0.25256	N	0.989634	D	0.65815	0.995	P	0.61722	0.893	T	0.18085	-1.0348	10	0.11485	T	0.65	-17.0275	12.2139	0.54396	0.0:1.0:0.0:0.0	.	243	Q8IYK2	CC105_HUMAN	K	243	ENSP00000292574:Q243K	ENSP00000292574:Q243K	Q	+	1	0	CCDC105	14992324	0.998000	0.40836	0.956000	0.39512	0.038000	0.13279	3.739000	0.55075	1.982000	0.57802	0.558000	0.71614	CAA		0.617	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482		4	39	1	0	0.150653	0.150653	0.159023	4	39				
SMU1	55234	broad.mit.edu	37	9	33056918	33056918	+	Silent	SNP	C	C	T			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr9:33056918C>T	ENST00000397149.3	-	8	962	c.912G>A	c.(910-912)agG>agA	p.R304R	SMU1_ENST00000536631.1_Silent_p.R143R	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	304						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R304R(1)		endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		TACTGTGTGCCCTCTCAAATC	0.353																																						ENST00000397149.3																			1	Substitution - coding silent(1)	p.R304R(1)	prostate(1)	endometrium(2)|lung(4)|ovary(2)|prostate(1)	9						c.(910-912)agG>agA		smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)							128.0	129.0	129.0					9																	33056918		2203	4300	6503	SO:0001819	synonymous_variant	55234					cytoplasm|nucleus		g.chr9:33056918C>T	AK001667	CCDS6534.1	9p12	2013-01-10			ENSG00000122692	ENSG00000122692		"""WD repeat domain containing"""	18247	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 57"""					11438655, 11410362	Standard	NM_018225		Approved	SMU-1, FLJ10805, BWD, fSAP57	uc003zsf.1	Q2TAY7	OTTHUMG00000019757	ENST00000397149.3:c.912G>A	9.37:g.33056918C>T						SMU1_ENST00000536631.1_Silent_p.R143R	p.R304R	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)	8	962	-			304					B4E3L0|Q9BU59|Q9HA96|Q9NVD1	Silent	SNP	ENST00000397149.3	37	c.912G>A	CCDS6534.1																																																																																				0.353	SMU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052022.1	NM_018225		12	174	0	0	0	0.457914	0	12	174				
NR1I2	8856	broad.mit.edu	37	3	119531666	119531666	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr3:119531666A>G	ENST00000337940.4	+	5	818	c.770A>G	c.(769-771)gAg>gGg	p.E257G	NR1I2_ENST00000466380.1_Missense_Mutation_p.E181G|NR1I2_ENST00000393716.2_Missense_Mutation_p.E218G	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	218	Ligand-binding.				drug export (GO:0046618)|exogenous drug catabolic process (GO:0042738)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|steroid metabolic process (GO:0008202)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)|xenobiotic transport (GO:0042908)	nucleoplasm (GO:0005654)	drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.E257G(2)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Docetaxel(DB01248)|Erlotinib(DB00530)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Paclitaxel(DB01229)|Rifampicin(DB01045)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Vitamin E(DB00163)	CTGCGGGGGGAGGATGGCAGT	0.582																																						ENST00000393716.2																			2	Substitution - Missense(2)	p.E257G(2)	prostate(2)	breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23						c.(652-654)gAg>gGg		nuclear receptor subfamily 1, group I, member 2	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)						77.0	76.0	77.0					3																	119531666		2203	4300	6503	SO:0001583	missense	8856				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr3:119531666A>G	AF061056	CCDS2995.1, CCDS43136.1, CCDS54627.1	3q12-q13.3	2013-03-25			ENSG00000144852	ENSG00000144852		"""Nuclear hormone receptors"""	7968	protein-coding gene	gene with protein product	"""pregnane X receptor"", ""orphan nuclear receptor PXR"""	603065				9727070, 9770465	Standard	NM_003889		Approved	ONR1, PXR, BXR, SXR, PAR2	uc003edk.3	O75469	OTTHUMG00000159400	ENST00000337940.4:c.770A>G	3.37:g.119531666A>G	ENSP00000336528:p.Glu257Gly					NR1I2_ENST00000466380.1_Missense_Mutation_p.E181G|NR1I2_ENST00000337940.4_Missense_Mutation_p.E257G	p.E218G	NM_003889.3	NP_003880.3	O75469	NR1I2_HUMAN		GBM - Glioblastoma multiforme(114;0.175)	5	2492	+			218			Ligand-binding.		Q006P5|Q008C8|Q96AC7|Q9UJ22|Q9UJ23|Q9UJ24|Q9UJ25|Q9UJ26|Q9UJ27|Q9UNW4	Missense_Mutation	SNP	ENST00000337940.4	37	c.653A>G	CCDS2995.1	.	.	.	.	.	.	.	.	.	.	A	16.17	3.047255	0.55110	.	.	ENSG00000144852	ENST00000393716;ENST00000466380;ENST00000337940	D;D;D	0.96011	-3.88;-3.88;-3.88	4.27	4.27	0.50696	Nuclear hormone receptor, ligand-binding (1);	0.505078	0.16746	N	0.201231	D	0.96513	0.8862	M	0.61703	1.905	0.29368	N	0.864216	P;D;B	0.71674	0.871;0.998;0.077	B;D;B	0.77004	0.318;0.989;0.128	D	0.92340	0.5881	10	0.42905	T	0.14	.	9.7268	0.40337	1.0:0.0:0.0:0.0	.	218;257;204	O75469;F1D8P9;O75469-6	NR1I2_HUMAN;.;.	G	218;181;257	ENSP00000377319:E218G;ENSP00000420297:E181G;ENSP00000336528:E257G	ENSP00000336528:E257G	E	+	2	0	NR1I2	121014356	0.486000	0.25980	0.788000	0.31933	0.979000	0.70002	2.126000	0.42026	1.801000	0.52704	0.459000	0.35465	GAG		0.582	NR1I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355126.1			3	88	0	0	0	0.150653	0	3	88				
FLG2	388698	broad.mit.edu	37	1	152326999	152326999	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr1:152326999C>T	ENST00000388718.5	-	3	3335	c.3263G>A	c.(3262-3264)gGc>gAc	p.G1088D	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1088	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.G1088D(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGACCATAGCCAGATGATTG	0.498																																						ENST00000388718.5																			1	Substitution - Missense(1)	p.G1088D(1)	prostate(1)	NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(3262-3264)gGc>gAc		filaggrin family member 2							321.0	323.0	322.0					1																	152326999		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152326999C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.3263G>A	1.37:g.152326999C>T	ENSP00000373370:p.Gly1088Asp					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.G1088D	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3335	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1088			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.3263G>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	2.068	-0.413653	0.04799	.	.	ENSG00000143520	ENST00000388718	T	0.21031	2.03	3.6	0.479	0.16796	.	.	.	.	.	T	0.01870	0.0059	N	0.13098	0.295	0.09310	N	1	P	0.39480	0.675	B	0.26202	0.067	T	0.37865	-0.9687	9	0.11794	T	0.64	2.797	3.936	0.09305	0.0:0.5591:0.1998:0.2411	.	1088	Q5D862	FILA2_HUMAN	D	1088	ENSP00000373370:G1088D	ENSP00000373370:G1088D	G	-	2	0	FLG2	150593623	0.009000	0.17119	0.000000	0.03702	0.003000	0.03518	0.259000	0.18405	0.221000	0.20879	0.558000	0.71614	GGC		0.498	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		11	381	0	0	0	0.387290	0	11	381				
ASPHD2	57168	broad.mit.edu	37	22	26829759	26829759	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr22:26829759G>A	ENST00000215906.5	+	2	616	c.178G>A	c.(178-180)Gct>Act	p.A60T		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	60					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.A34T(1)		endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						CGACACCACCGCTGTCATCAC	0.647																																						ENST00000215906.5																			1	Substitution - Missense(1)	p.A34T(1)	prostate(1)	endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						c.(178-180)Gct>Act		aspartate beta-hydroxylase domain containing 2							95.0	80.0	85.0					22																	26829759		2203	4300	6503	SO:0001583	missense	57168				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity	g.chr22:26829759G>A	AK097157	CCDS13834.2	22q12.1	2006-02-02			ENSG00000128203	ENSG00000128203			30437	protein-coding gene	gene with protein product							Standard	NM_020437		Approved	FLJ39838	uc003acg.2	Q6ICH7	OTTHUMG00000150884	ENST00000215906.5:c.178G>A	22.37:g.26829759G>A	ENSP00000215906:p.Ala60Thr						p.A60T	NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN			2	616	+			60					B2RCH3|Q7L0W3|Q9NSN3	Missense_Mutation	SNP	ENST00000215906.5	37	c.178G>A	CCDS13834.2	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894751	0.52121	.	.	ENSG00000128203	ENST00000215906	T	0.50277	0.75	4.57	4.57	0.56435	.	0.132959	0.49916	D	0.000133	T	0.42585	0.1209	N	0.24115	0.695	0.54753	D	0.999986	D	0.56968	0.978	P	0.47626	0.552	T	0.49011	-0.8983	10	0.66056	D	0.02	-23.7877	16.5399	0.84382	0.0:0.0:1.0:0.0	.	60	Q6ICH7	ASPH2_HUMAN	T	60	ENSP00000215906:A60T	ENSP00000215906:A60T	A	+	1	0	ASPHD2	25159759	1.000000	0.71417	0.072000	0.20136	0.541000	0.35023	6.640000	0.74319	2.368000	0.80403	0.563000	0.77884	GCT		0.647	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320422.1	NM_020437		4	91	0	0	0	0.184627	0	4	91				
OBSCN	84033	broad.mit.edu	37	1	228481211	228481211	+	Silent	SNP	C	C	T			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr1:228481211C>T	ENST00000422127.1	+	41	11069	c.11025C>T	c.(11023-11025)gaC>gaT	p.D3675D	OBSCN_ENST00000366707.4_Silent_p.D794D|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000284548.11_Silent_p.D3675D|OBSCN_ENST00000359599.6_Silent_p.D2522D|OBSCN_ENST00000570156.2_Silent_p.D4104D|OBSCN_ENST00000366709.4_Silent_p.D794D	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3675	Ig-like 37.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.D3729D(1)|p.D3958D(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGAGGCAGGACGGGGCCAGGT	0.652																																						ENST00000570156.2																			2	Substitution - coding silent(2)	p.D3729D(1)|p.D3958D(1)	prostate(2)	NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(12310-12312)gaC>gaT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							98.0	104.0	102.0					1																	228481211		2166	4259	6425	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228481211C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.11025C>T	1.37:g.228481211C>T						OBSCN_ENST00000284548.11_Silent_p.D3675D|OBSCN_ENST00000422127.1_Silent_p.D3675D|OBSCN_ENST00000366709.4_Silent_p.D794D|OBSCN_ENST00000366707.4_Silent_p.D794D|OBSCN_ENST00000359599.6_Silent_p.D2522D	p.D4104D	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			46	12386	+		Prostate(94;0.0405)	3146			Ig-like 42.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.12312C>T	CCDS58065.1																																																																																				0.652	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		4	81	0	0	0	0.184627	0	4	81				
FAT2	2196	broad.mit.edu	37	5	150922324	150922324	+	Silent	SNP	T	T	C	rs35581702		TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr5:150922324T>C	ENST00000261800.5	-	9	8376	c.8364A>G	c.(8362-8364)ggA>ggG	p.G2788G		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2788	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATTGACGTCTCCCACTTGGA	0.478																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(8362-8364)ggA>ggG		FAT atypical cadherin 2							179.0	164.0	169.0					5																	150922324		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150922324T>C	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.8364A>G	5.37:g.150922324T>C							p.G2788G	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	8376	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2788			Cadherin 24.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.8364A>G	CCDS4317.1																																																																																				0.478	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		3	181	0	0	0	0.115264	0	3	181				
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933		TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr21:11058353T>C	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							20.0	18.0	19.0					21																	11058353		692	1589	2281			85319							g.chr21:11058353T>C	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058353T>C												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.343	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	99	0	0	0	0.150653	0	4	99				
TTBK1	84630	broad.mit.edu	37	6	43251485	43251485	+	Missense_Mutation	SNP	C	C	G	rs201098083	byFrequency	TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr6:43251485C>G	ENST00000259750.4	+	14	3090	c.3007C>G	c.(3007-3009)Cgg>Ggg	p.R1003G		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1003					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R1003G(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TGGGGCCCCCCGGGAAACCCC	0.697																																						ENST00000259750.4																			1	Substitution - Missense(1)	p.R1003G(1)	prostate(1)	breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(3007-3009)Cgg>Ggg		tau tubulin kinase 1							17.0	22.0	21.0					6																	43251485		2181	4269	6450	SO:0001583	missense	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43251485C>G	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.3007C>G	6.37:g.43251485C>G	ENSP00000259750:p.Arg1003Gly						p.R1003G	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		14	3090	+			1003					A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	c.3007C>G	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-2.946762	0.00051	.	.	ENSG00000146216	ENST00000259750	T	0.49432	0.78	5.25	-1.5	0.08691	.	2.102200	0.01961	N	0.043321	T	0.05456	0.0144	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07809	-1.0753	10	0.30854	T	0.27	.	2.6526	0.05003	0.3558:0.1092:0.4249:0.1101	.	1003	Q5TCY1	TTBK1_HUMAN	G	1003	ENSP00000259750:R1003G	ENSP00000259750:R1003G	R	+	1	2	TTBK1	43359463	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.134000	0.10436	-0.722000	0.04922	-1.277000	0.01392	CGG		0.697	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			3	39	0	0	0	0.150653	0	3	39				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	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		3	74	0	0	0	0.115264	0	3	74				
LGR5	8549	broad.mit.edu	37	12	71977709	71977709	+	Missense_Mutation	SNP	T	T	C	rs372546802		TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr12:71977709T>C	ENST00000266674.5	+	18	2230	c.1919T>C	c.(1918-1920)aTt>aCt	p.I640T	LGR5_ENST00000540815.2_Missense_Mutation_p.I616T|RP11-186F10.2_ENST00000546601.1_RNA|LGR5_ENST00000536515.1_Missense_Mutation_p.I568T			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	640					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.I640T(1)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TGCCATGTCATTGGTTTTTTG	0.493																																						ENST00000266674.5																		NUP107/LGR5(2)	1	Substitution - Missense(1)	p.I640T(1)	prostate(1)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						c.(1918-1920)aTt>aCt		leucine-rich repeat containing G protein-coupled receptor 5		T	THR/ILE	1,4405	2.1+/-5.4	0,1,2202	188.0	142.0	158.0		1919	3.6	0.0	12		158	0,8600		0,0,4300	no	missense	LGR5	NM_003667.2	89	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign	640/908	71977709	1,13005	2203	4300	6503	SO:0001583	missense	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71977709T>C	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.1919T>C	12.37:g.71977709T>C	ENSP00000266674:p.Ile640Thr					LGR5_ENST00000540815.2_Missense_Mutation_p.I616T|LGR5_ENST00000536515.1_Missense_Mutation_p.I568T	p.I640T			O75473	LGR5_HUMAN			18	2230	+			640					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	c.1919T>C	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	T	0.040	-1.286619	0.01387	2.27E-4	0.0	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	T;T;T	0.80214	-1.35;-1.35;-1.35	5.95	3.61	0.41365	GPCR, rhodopsin-like superfamily (1);	0.545185	0.17295	N	0.179484	T	0.39708	0.1088	N	0.00128	-2.045	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.43458	-0.9390	10	0.15952	T	0.53	.	6.141	0.20259	0.0:0.3374:0.0:0.6626	.	616;640	O75473-2;O75473	.;LGR5_HUMAN	T	640;640;568;616	ENSP00000266674:I640T;ENSP00000443033:I568T;ENSP00000441035:I616T	ENSP00000266674:I640T	I	+	2	0	LGR5	70263976	0.604000	0.26932	0.005000	0.12908	0.934000	0.57294	2.673000	0.46858	1.071000	0.40834	0.533000	0.62120	ATT		0.493	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		21	57	0	0	0	0.592651	0	21	57				
ZNF766	90321	broad.mit.edu	37	19	52793389	52793389	+	Silent	SNP	G	G	A			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr19:52793389G>A	ENST00000439461.1	+	4	388	c.345G>A	c.(343-345)caG>caA	p.Q115Q	ZNF766_ENST00000359102.4_Silent_p.Q130Q|ZNF766_ENST00000593612.1_Silent_p.Q130Q|CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000599581.1_3'UTR	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	115					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.Q115Q(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		TAACCTTTCAGTTACCTCTGC	0.398																																						ENST00000439461.1																			1	Substitution - coding silent(1)	p.Q115Q(1)	prostate(1)	breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17						c.(343-345)caG>caA		zinc finger protein 766							80.0	82.0	81.0					19																	52793389		1997	4202	6199	SO:0001819	synonymous_variant	90321				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52793389G>A	AK024074	CCDS46163.1	19q13.33	2013-01-08				ENSG00000196214		"""Zinc fingers, C2H2-type"", ""-"""	28063	protein-coding gene	gene with protein product							Standard	XM_006723458		Approved		uc002pyr.1	Q5HY98		ENST00000439461.1:c.345G>A	19.37:g.52793389G>A						ZNF766_ENST00000359102.4_Silent_p.Q130Q|CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000593612.1_Silent_p.Q130Q|ZNF766_ENST00000599581.1_3'UTR	p.Q115Q	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN		GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)	4	388	+			115					B2RNE0|Q7Z326	Silent	SNP	ENST00000439461.1	37	c.345G>A	CCDS46163.1																																																																																				0.398	ZNF766-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462764.1	NM_001010851		4	67	0	0	0	0.150653	0	4	67				
APBB1	322	broad.mit.edu	37	11	6432291	6432291	+	Missense_Mutation	SNP	G	G	A	rs138898127	byFrequency	TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr11:6432291G>A	ENST00000609360.1	-	2	386	c.287C>T	c.(286-288)gCg>gTg	p.A96V	APBB1_ENST00000299402.6_Missense_Mutation_p.A96V|APBB1_ENST00000311051.3_Missense_Mutation_p.A96V|APBB1_ENST00000389906.2_Missense_Mutation_p.A96V	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	96					apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)	p.A96V(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GGCCTCCTCCGCCAAGGTCAA	0.632																																					GBM(147;1810 2556 5672 39622)	ENST00000389906.2																			1	Substitution - Missense(1)	p.A96V(1)	prostate(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(286-288)gCg>gTg		amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)		G	VAL/ALA,VAL/ALA	3,4399	6.2+/-15.9	0,3,2198	144.0	160.0	155.0		287,287	3.3	0.7	11	dbSNP_134	155	1,8591	1.2+/-3.3	0,1,4295	yes	missense,missense	APBB1	NM_001164.2,NM_145689.1	64,64	0,4,6493	AA,AG,GG		0.0116,0.0682,0.0308	possibly-damaging,possibly-damaging	96/711,96/709	6432291	4,12990	2201	4296	6497	SO:0001583	missense	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6432291G>A	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.287C>T	11.37:g.6432291G>A	ENSP00000477213:p.Ala96Val					APBB1_ENST00000311051.3_Missense_Mutation_p.A96V|APBB1_ENST00000299402.6_Missense_Mutation_p.A96V|APBB1_ENST00000533407.1_Intron	p.A96V	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	2	386	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	96					A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37	c.287C>T		.	.	.	.	.	.	.	.	.	.	G	10.08	1.252995	0.22965	6.82E-4	1.16E-4	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906	T;T;T	0.14391	2.51;2.51;2.51	4.21	3.26	0.37387	.	0.343920	0.23162	N	0.051239	T	0.13970	0.0338	N	0.14661	0.345	0.20873	N	0.99984	D	0.69078	0.997	P	0.57502	0.822	T	0.13098	-1.0522	10	0.27785	T	0.31	-10.4606	10.5629	0.45156	0.1059:0.0:0.8941:0.0	.	96	O00213-2	.	V	96	ENSP00000299402:A96V;ENSP00000311912:A96V;ENSP00000374556:A96V	ENSP00000299402:A96V	A	-	2	0	APBB1	6388867	0.971000	0.33674	0.725000	0.30721	0.631000	0.37964	1.785000	0.38684	2.074000	0.62210	0.393000	0.25936	GCG		0.632	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		10	308	0	0	0	0.387290	0	10	308				
PCDHGB7	56099	broad.mit.edu	37	5	140798766	140798766	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr5:140798766A>G	ENST00000398594.2	+	1	1340	c.1340A>G	c.(1339-1341)gAc>gGc	p.D447G	PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	447	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D447G(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGTCAATGACAACGCGCCG	0.572																																						ENST00000398594.2																			1	Substitution - Missense(1)	p.D447G(1)	prostate(1)	central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56						c.(1339-1341)gAc>gGc									63.0	73.0	69.0					5																	140798766		2148	4239	6387	SO:0001583	missense	0							g.chr5:140798766A>G	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1340A>G	5.37:g.140798766A>G	ENSP00000381594:p.Asp447Gly					PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.D447G	NM_018927.3	NP_061750.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1340	+								Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	c.1340A>G	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	a	14.91	2.675092	0.47781	.	.	ENSG00000254122	ENST00000398594	T	0.71698	-0.59	5.57	5.57	0.84162	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.34386	U	0.004006	D	0.91610	0.7349	H	0.99719	4.725	0.43347	D	0.995408	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95334	0.8432	10	0.87932	D	0	.	15.7379	0.77859	1.0:0.0:0.0:0.0	.	447;447	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	G	447	ENSP00000381594:D447G	ENSP00000381594:D447G	D	+	2	0	PCDHGB7	140778950	1.000000	0.71417	1.000000	0.80357	0.140000	0.21249	9.246000	0.95438	2.117000	0.64856	0.402000	0.26972	GAC		0.572	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		7	54	0	0	0	0.307466	0	7	54				
NFE2L1	4779	broad.mit.edu	37	17	46128887	46128887	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr17:46128887C>A	ENST00000362042.3	+	2	1023	c.407C>A	c.(406-408)cCa>cAa	p.P136Q	NFE2L1_ENST00000585291.1_Missense_Mutation_p.P136Q|NFE2L1_ENST00000357480.5_Missense_Mutation_p.P136Q|NFE2L1_ENST00000361665.3_Missense_Mutation_p.P136Q	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	136	Asp/Glu-rich (acidic).				anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)	p.P136Q(1)		cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTGACAGGCCCAGACAACGGG	0.592																																						ENST00000362042.3																			1	Substitution - Missense(1)	p.P136Q(1)	prostate(1)	cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(406-408)cCa>cAa		nuclear factor, erythroid 2-like 1							65.0	73.0	70.0					17																	46128887		2203	4300	6503	SO:0001583	missense	4779				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr17:46128887C>A	AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.407C>A	17.37:g.46128887C>A	ENSP00000354855:p.Pro136Gln					NFE2L1_ENST00000585291.1_Missense_Mutation_p.P136Q|NFE2L1_ENST00000361665.3_Missense_Mutation_p.P136Q|NFE2L1_ENST00000357480.5_Missense_Mutation_p.P136Q	p.P136Q	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN			2	1023	+			136			Asp/Glu-rich (acidic).		D3DTU3|D3DTU5|Q12877|Q96FN6	Missense_Mutation	SNP	ENST00000362042.3	37	c.407C>A	CCDS11524.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.239991	0.58995	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480	T;T	0.47869	0.83;0.83	5.3	5.3	0.74995	.	0.783877	0.11979	N	0.510972	T	0.51719	0.1691	L	0.44542	1.39	0.80722	D	1	P;P;P	0.46512	0.879;0.527;0.549	P;B;B	0.48270	0.572;0.354;0.265	T	0.40079	-0.9582	10	0.27785	T	0.31	-2.6793	17.7252	0.88363	0.0:1.0:0.0:0.0	.	136;136;136	A3KMG6;Q14494-2;Q14494	.;.;NF2L1_HUMAN	Q	155;136;136	ENSP00000355190:P136Q;ENSP00000350072:P136Q	ENSP00000350072:P136Q	P	+	2	0	NFE2L1	43483886	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	3.502000	0.53332	2.495000	0.84180	0.563000	0.77884	CCA		0.592	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	NM_003204		4	88	1	0	0.150653	0.150653	0.159023	4	88				
NOTCH4	4855	broad.mit.edu	37	6	32163814	32163814	+	Silent	SNP	C	C	T			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr6:32163814C>T	ENST00000375023.3	-	30	5550	c.5412G>A	c.(5410-5412)gcG>gcA	p.A1804A	NOTCH4_ENST00000443903.2_Missense_Mutation_p.G181R|GPSM3_ENST00000375043.3_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1804					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.A1804A(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GAGCGACGTCCGCCGGCGCTA	0.701																																						ENST00000443903.2																			1	Substitution - coding silent(1)	p.A1804A(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(541-543)Gga>Aga		notch 4							8.0	10.0	10.0					6																	32163814		1396	2628	4024	SO:0001819	synonymous_variant	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32163814C>T		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.5412G>A	6.37:g.32163814C>T						NOTCH4_ENST00000375023.3_Silent_p.A1804A	p.G181R			Q99466	NOTC4_HUMAN			3	541	-			1180			EGF-like 4.		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.541G>A	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.395074	0.25205	.	.	ENSG00000204301	ENST00000443903	T	0.72615	-0.67	4.71	-7.09	0.01553	.	.	.	.	.	T	0.23572	0.0570	.	.	.	0.18873	N	0.999982	B	0.13145	0.007	B	0.08055	0.003	T	0.11891	-1.0569	8	0.18276	T	0.48	.	8.4362	0.32789	0.0:0.2422:0.1972:0.5606	.	181	B4DFM3	.	R	181	ENSP00000398123:G181R	ENSP00000398123:G181R	G	-	1	0	NOTCH4	32271792	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-2.612000	0.00884	-1.610000	0.01583	-0.251000	0.11542	GGA		0.701	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			3	11	0	0	0	0.115264	0	3	11				
CTDSP2	10106	broad.mit.edu	37	12	58223322	58223322	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr12:58223322A>G	ENST00000398073.2	-	2	425	c.122T>C	c.(121-123)cTt>cCt	p.L41P	CTDSP2_ENST00000548823.1_Intron|CTDSP2_ENST00000547701.1_5'UTR	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2	41					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein dephosphorylation (GO:0006470)	nucleoplasm (GO:0005654)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)	p.L41P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					ACAGCAGAAAAGGGCCTTGAA	0.532																																						ENST00000398073.2																			1	Substitution - Missense(1)	p.L41P(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7						c.(121-123)cTt>cCt		CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2							134.0	133.0	134.0					12																	58223322		2009	4168	6177	SO:0001583	missense	10106				protein dephosphorylation	nucleus|soluble fraction	CTD phosphatase activity|metal ion binding	g.chr12:58223322A>G	AF000152	CCDS41801.1	12q14.1	2012-06-14			ENSG00000175215	ENSG00000175215		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	17077	protein-coding gene	gene with protein product	"""conserved gene amplified in osteosarcoma"", ""nuclear LIM interactor-interacting factor 2"", ""NLI-interacting factor 2"", ""small CTD phosphatase 2"""	608711				9315096, 12721286	Standard	XM_005268556		Approved	OS4, SCP2, PSR2	uc001sqm.3	O14595	OTTHUMG00000170483	ENST00000398073.2:c.122T>C	12.37:g.58223322A>G	ENSP00000381148:p.Leu41Pro					CTDSP2_ENST00000548823.1_Intron|CTDSP2_ENST00000547701.1_5'UTR	p.L41P	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN			2	425	-	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)		41					A8K5H4|Q53ZR2|Q6NZY3|Q9UEX1	Missense_Mutation	SNP	ENST00000398073.2	37	c.122T>C	CCDS41801.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.166903	0.78339	.	.	ENSG00000175215	ENST00000398073	T	0.24151	1.87	4.68	4.68	0.58851	.	0.123947	0.56097	D	0.000035	T	0.50820	0.1638	M	0.78456	2.415	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.56709	-0.7934	10	0.87932	D	0	-4.8205	13.5101	0.61506	1.0:0.0:0.0:0.0	.	41	O14595	CTDS2_HUMAN	P	41	ENSP00000381148:L41P	ENSP00000381148:L41P	L	-	2	0	CTDSP2	56509589	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.124000	0.71620	2.094000	0.63399	0.533000	0.62120	CTT		0.532	CTDSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409353.1	NM_005730		3	123	0	0	0	0.115264	0	3	123				
GPR37L1	9283	broad.mit.edu	37	1	202092707	202092707	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	90ab9245-589c-4c76-b018-77f386ce2b7e	g.chr1:202092707G>A	ENST00000367282.5	+	1	722	c.616G>A	c.(616-618)Gtg>Atg	p.V206M		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	206					negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.V206M(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						TTGTCGTGCCGTGCCCTTCAT	0.522																																						ENST00000367282.4																			1	Substitution - Missense(1)	p.V206M(1)	prostate(1)	central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						c.(616-618)Gtg>Atg		G protein-coupled receptor 37 like 1							98.0	94.0	95.0					1																	202092707		2202	4297	6499	SO:0001583	missense	9283					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr1:202092707G>A	AJ310210	CCDS1420.1	1q32	2012-08-21	2006-02-15		ENSG00000170075	ENSG00000170075		"""GPCR / Class A : Orphans"""	14923	protein-coding gene	gene with protein product						9539149	Standard	NM_004767		Approved	ETBR-LP-2	uc001gxj.3	O60883	OTTHUMG00000035924	ENST00000367282.5:c.616G>A	1.37:g.202092707G>A	ENSP00000356251:p.Val206Met						p.V206M	NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN			1	722	+			206					B2R7M9|Q5SXP7|Q86VP7	Missense_Mutation	SNP	ENST00000367282.5	37	c.616G>A	CCDS1420.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.084656	0.76642	.	.	ENSG00000170075	ENST00000541334;ENST00000367282	T	0.38887	1.11	4.77	4.77	0.60923	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.64204	0.2577	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68432	-0.5410	10	0.66056	D	0.02	-25.5229	17.784	0.88532	0.0:0.0:1.0:0.0	.	206	O60883	ETBR2_HUMAN	M	73;206	ENSP00000356251:V206M	ENSP00000356251:V206M	V	+	1	0	GPR37L1	200359330	1.000000	0.71417	0.973000	0.42090	0.866000	0.49608	9.854000	0.99522	2.175000	0.68902	0.313000	0.20887	GTG		0.522	GPR37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087496.2	NM_004767		6	150	0	0	0	0.217242	0	6	150				
KIAA0586	9786	broad.mit.edu	37	14	58896079	58896079	+	Splice_Site	SNP	A	A	G			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	90ab9245-589c-4c76-b018-77f386ce2b7e	g.chr14:58896079A>G	ENST00000556134.1	+	3	428		c.e3-1		KIAA0586_ENST00000261244.5_Splice_Site|TIMM9_ENST00000555593.1_5'Flank|RP11-517O13.1_ENST00000556734.1_RNA|TIMM9_ENST00000395159.2_5'Flank|KIAA0586_ENST00000354386.6_Splice_Site|TIMM9_ENST00000216463.4_5'Flank|TIMM9_ENST00000556007.2_5'Flank|KIAA0586_ENST00000423743.3_Splice_Site|TIMM9_ENST00000555404.1_5'Flank	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586						cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.?(2)		endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTGTTTTGTTAGGTTCATCAG	0.323																																						ENST00000423743.3																			2	Unknown(2)	p.?(2)	prostate(2)	endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.e2-1		KIAA0586							118.0	112.0	114.0					14																	58896079		1804	4069	5873	SO:0001630	splice_region_variant	9786							g.chr14:58896079A>G	AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.155-1A>G	14.37:g.58896079A>G						KIAA0586_ENST00000354386.6_Splice_Site|KIAA0586_ENST00000261244.5_Splice_Site|KIAA0586_ENST00000556134.1_Splice_Site		NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN			2	202	+								B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Splice_Site	SNP	ENST00000556134.1	37		CCDS58321.1	.	.	.	.	.	.	.	.	.	.	A	17.19	3.327527	0.60743	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000261244	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5721	0.50839	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA0586	57965832	0.999000	0.42202	0.976000	0.42696	0.888000	0.51559	3.863000	0.56016	2.291000	0.77112	0.533000	0.62120	.		0.323	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749	Intron	3	106	0	0	0	0.115264	0	3	106				
KIF1B	23095	broad.mit.edu	37	1	10363477	10363477	+	Intron	SNP	A	A	T			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	90ab9245-589c-4c76-b018-77f386ce2b7e	g.chr1:10363477A>T	ENST00000377086.1	+	22	2317				KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.Y745F|KIF1B_ENST00000377093.4_Missense_Mutation_p.Y745F			O60333	KIF1B_HUMAN	kinesin family member 1B						anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.Y745F(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GAGATTTGCTATGAGGTTGCT	0.438																																						ENST00000377093.4																			1	Substitution - Missense(1)	p.Y745F(1)	prostate(1)	breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(2233-2235)tAt>tTt		kinesin family member 1B							66.0	68.0	67.0					1																	10363477		2203	4300	6503	SO:0001627	intron_variant	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10363477A>T	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2115+6173A>T	1.37:g.10363477A>T						KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.Y745F|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Intron	p.Y745F	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	21	2387	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	0					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.2234A>T		.	.	.	.	.	.	.	.	.	.	A	22.0	4.224504	0.79576	.	.	ENSG00000054523	ENST00000377093;ENST00000377083	T;T	0.73897	-0.79;-0.79	5.8	5.8	0.92144	.	.	.	.	.	D	0.86908	0.6046	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88625	0.3165	8	0.87932	D	0	.	16.2141	0.82191	1.0:0.0:0.0:0.0	.	745	O60333-3	.	F	745	ENSP00000366297:Y745F;ENSP00000366287:Y745F	ENSP00000366287:Y745F	Y	+	2	0	KIF1B	10286064	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.206000	0.95056	2.225000	0.72522	0.529000	0.55759	TAT		0.438	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			6	71	0	0	0	0.217242	0	6	71				
OR2G6	391211	broad.mit.edu	37	1	248685655	248685655	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	90ab9245-589c-4c76-b018-77f386ce2b7e	g.chr1:248685655G>C	ENST00000343414.4	+	1	740	c.708G>C	c.(706-708)aaG>aaC	p.K236N		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K236N(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCCGCCAAAAGGCCTTTGGGA	0.458																																						ENST00000343414.4																			1	Substitution - Missense(1)	p.K236N(1)	prostate(1)	NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(706-708)aaG>aaC		olfactory receptor, family 2, subfamily G, member 6							105.0	108.0	107.0					1																	248685655		2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685655G>C		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.708G>C	1.37:g.248685655G>C	ENSP00000341291:p.Lys236Asn						p.K236N	NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	740	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	236					B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.708G>C	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	12.67	2.006204	0.35415	.	.	ENSG00000188558	ENST00000343414	T	0.00374	7.72	3.83	-3.1	0.05315	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46442	U	0.000297	T	0.01320	0.0043	H	0.97732	4.065	0.25621	N	0.986393	D	0.89917	1.0	D	0.97110	1.0	T	0.04767	-1.0928	10	0.87932	D	0	.	10.5308	0.44975	0.6266:0.0:0.3734:0.0	.	236	Q5TZ20	OR2G6_HUMAN	N	236	ENSP00000341291:K236N	ENSP00000341291:K236N	K	+	3	2	OR2G6	246752278	0.489000	0.26004	0.063000	0.19743	0.393000	0.30537	-0.660000	0.05317	-0.671000	0.05274	0.400000	0.26472	AAG		0.458	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		17	65	0	0	0	0.520397	0	17	65				
PRICKLE2	166336	broad.mit.edu	37	3	64084858	64084858	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	90ab9245-589c-4c76-b018-77f386ce2b7e	g.chr3:64084858G>A	ENST00000295902.6	-	8	2989	c.2404C>T	c.(2404-2406)Cga>Tga	p.R802*	PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Nonsense_Mutation_p.R858*	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	802					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.R802*(1)		breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GTGACGTATCGCAGGCGCGCT	0.552																																						ENST00000295902.6																			1	Substitution - Nonsense(1)	p.R802*(1)	prostate(1)	breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(2404-2406)Cga>Tga		prickle homolog 2 (Drosophila)							88.0	86.0	87.0					3																	64084858		2203	4300	6503	SO:0001587	stop_gained	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64084858G>A	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.2404C>T	3.37:g.64084858G>A	ENSP00000295902:p.Arg802*					RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Nonsense_Mutation_p.R858*	p.R802*	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	8	2989	-		Lung NSC(201;0.136)	802					Q0VF44	Nonsense_Mutation	SNP	ENST00000295902.6	37	c.2404C>T	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	G	45	11.490453	0.99567	.	.	ENSG00000163637	ENST00000295902	.	.	.	5.63	5.63	0.86233	.	0.098510	0.42420	D	0.000717	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.2872	14.51	0.67780	0.0:0.0:0.8534:0.1466	.	.	.	.	X	802	.	ENSP00000295902:R802X	R	-	1	2	PRICKLE2	64059898	1.000000	0.71417	0.996000	0.52242	0.768000	0.43524	5.983000	0.70540	2.663000	0.90544	0.655000	0.94253	CGA		0.552	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		4	91	0	0	0	0.184627	0	4	91				
HIST1H2BK	85236	broad.mit.edu	37	6	27114573	27114573	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	90ab9245-589c-4c76-b018-77f386ce2b7e	g.chr6:27114573G>A	ENST00000356950.1	-	1	4	c.5C>T	c.(4-6)cCg>cTg	p.P2L	HIST1H2BK_ENST00000396891.4_Missense_Mutation_p.P2L|HIST1H2AH_ENST00000377459.1_5'Flank|MIR3143_ENST00000584253.1_RNA			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	2					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P2L(2)		breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CGCTGGTTCCGGCATGTTGAA	0.567																																						ENST00000396891.4																			2	Substitution - Missense(2)	p.P2L(2)	prostate(2)	breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(4-6)cCg>cTg		histone cluster 1, H2bk							48.0	48.0	48.0					6																	27114573		2203	4300	6503	SO:0001583	missense	85236				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27114573G>A	AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"""Histones / Replication-dependent"""	13954	protein-coding gene	gene with protein product		615045	"""H2B histone family, member T"", ""histone 1, H2bk"""	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.5C>T	6.37:g.27114573G>A	ENSP00000349430:p.Pro2Leu					HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.P2L	p.P2L	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN			1	46	-			2					A8K7P7|Q2VPI7	Missense_Mutation	SNP	ENST00000356950.1	37	c.5C>T	CCDS4621.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.102254	0.37145	.	.	ENSG00000197903	ENST00000396891;ENST00000356950	T;T	0.19532	2.14;2.14	4.05	2.15	0.27550	.	.	.	.	.	T	0.16385	0.0394	M	0.89287	3.02	0.47441	D	0.999429	B	0.26120	0.142	B	0.09377	0.004	T	0.10382	-1.0632	9	0.87932	D	0	.	12.1349	0.53966	0.0:0.3325:0.6675:0.0	.	2	O60814	H2B1K_HUMAN	L	2	ENSP00000380100:P2L;ENSP00000349430:P2L	ENSP00000349430:P2L	P	-	2	0	HIST1H2BK	27222552	1.000000	0.71417	0.583000	0.28640	0.075000	0.17131	5.385000	0.66231	0.399000	0.25367	0.650000	0.86243	CCG		0.567	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040141.1	NM_080593		3	76	0	0	0	0.115264	0	3	76				
ZNF562	54811	broad.mit.edu	37	19	9771402	9771402	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	90ab9245-589c-4c76-b018-77f386ce2b7e	g.chr19:9771402A>T	ENST00000448622.1	-	2	181	c.19T>A	c.(19-21)Tcc>Acc	p.S7T	ZNF562_ENST00000453792.2_Intron|ZNF562_ENST00000590155.1_Missense_Mutation_p.S7T|ZNF562_ENST00000587392.1_Missense_Mutation_p.S7T|ZNF562_ENST00000453372.2_Missense_Mutation_p.S7T|ZNF562_ENST00000293648.4_Missense_Mutation_p.S7T|ZNF562_ENST00000541032.1_5'UTR|ZNF562_ENST00000537617.1_5'UTR	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	7					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.S7T(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						TTACCATGGGACATATCAAAG	0.488																																						ENST00000448622.1																			2	Substitution - Missense(2)	p.S7T(2)	prostate(2)	NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(19-21)Tcc>Acc		zinc finger protein 562							270.0	229.0	243.0					19																	9771402		2203	4300	6503	SO:0001583	missense	54811				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9771402A>T	AK000086	CCDS12217.1, CCDS45956.1, CCDS74280.1	19p13.2	2013-09-20			ENSG00000171466	ENSG00000171466		"""Zinc fingers, C2H2-type"", ""-"""	25950	protein-coding gene	gene with protein product							Standard	NM_001130031		Approved	FLJ20079	uc010xks.2	Q6V9R5	OTTHUMG00000180205	ENST00000448622.1:c.19T>A	19.37:g.9771402A>T	ENSP00000411784:p.Ser7Thr					ZNF562_ENST00000541032.1_5'UTR|ZNF562_ENST00000590155.1_Missense_Mutation_p.S7T|ZNF562_ENST00000293648.4_Missense_Mutation_p.S7T|ZNF562_ENST00000453372.2_Missense_Mutation_p.S7T|ZNF562_ENST00000537617.1_5'UTR|ZNF562_ENST00000587392.1_Missense_Mutation_p.S7T|ZNF562_ENST00000453792.2_Intron	p.S7T	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN			2	181	-			7					Q32MN2|Q9NXS5	Missense_Mutation	SNP	ENST00000448622.1	37	c.19T>A	CCDS45956.1	.	.	.	.	.	.	.	.	.	.	A	4.257	0.046716	0.08243	.	.	ENSG00000171466	ENST00000453372;ENST00000448622;ENST00000293648	T;T;T	0.09723	2.95;2.95;3.23	1.55	1.55	0.23275	.	.	.	.	.	T	0.15739	0.0379	L	0.29908	0.895	0.19575	N	0.999966	P;P;B	0.46578	0.805;0.88;0.0	P;P;B	0.62184	0.827;0.899;0.0	T	0.14559	-1.0468	9	0.45353	T	0.12	.	5.182	0.15165	1.0:0.0:0.0:0.0	.	7;7;7	B4DMG0;Q6V9R5;Q6V9R5-2	.;ZN562_HUMAN;.	T	7	ENSP00000410734:S7T;ENSP00000411784:S7T;ENSP00000293648:S7T	ENSP00000293648:S7T	S	-	1	0	ZNF562	9632402	0.000000	0.05858	0.003000	0.11579	0.022000	0.10575	-0.363000	0.07593	0.958000	0.37956	0.254000	0.18369	TCC		0.488	ZNF562-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450239.1	NM_017656		5	213	0	0	0	0.217242	0	5	213				
NUDT10	170685	broad.mit.edu	37	X	51076024	51076024	+	Silent	SNP	G	G	A	rs143435240		TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	90ab9245-589c-4c76-b018-77f386ce2b7e	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	234					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657																																					NSCLC(90;1817 2035 37909 38249)	ENST00000376006.3																			8	Substitution - coding silent(8)	p.E69E(8)	endometrium(5)|cervix(1)|prostate(1)|lung(1)	cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(205-207)gaG>gaA		nudix (nucleoside diphosphate linked moiety X)-type motif 10							52.0	62.0	59.0					X																	51076024		2203	4300	6503	SO:0001819	synonymous_variant	170685					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51076024G>A	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"""Nudix motif containing"""	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.207G>A	X.37:g.51076024G>A						NUDT10_ENST00000356450.2_Silent_p.E69E	p.E69E	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN			2	427	+	Ovarian(276;0.236)		69			Nudix hydrolase.		Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	c.207G>A	CCDS35278.1																																																																																				0.657	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183		3	33	0	0	0	0.115264	0	3	33				
ZNF292	23036	broad.mit.edu	37	6	87943091	87943091	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	90ab9245-589c-4c76-b018-77f386ce2b7e	g.chr6:87943091T>A	ENST00000369577.3	+	5	630	c.587T>A	c.(586-588)aTt>aAt	p.I196N	ZNF292_ENST00000339907.4_Missense_Mutation_p.I191N	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	196						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.I196N(1)|p.I51N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GATATGAGAATTAAACATCTA	0.313																																						ENST00000369577.3																			2	Substitution - Missense(2)	p.I196N(1)|p.I51N(1)	prostate(2)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(586-588)aTt>aAt		zinc finger protein 292							86.0	82.0	83.0					6																	87943091		1827	4077	5904	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87943091T>A	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.587T>A	6.37:g.87943091T>A	ENSP00000358590:p.Ile196Asn					ZNF292_ENST00000339907.4_Missense_Mutation_p.I191N	p.I196N	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	5	630	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	196					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.587T>A	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.254450	0.80135	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.12039	2.72;2.74	5.36	5.36	0.76844	.	0.048603	0.85682	D	0.000000	T	0.27524	0.0676	M	0.65498	2.005	0.44515	D	0.997467	D	0.89917	1.0	D	0.80764	0.994	T	0.02698	-1.1122	10	0.87932	D	0	.	15.658	0.77158	0.0:0.0:0.0:1.0	.	196	O60281	ZN292_HUMAN	N	196;191	ENSP00000358590:I196N;ENSP00000342847:I191N	ENSP00000342847:I191N	I	+	2	0	ZNF292	87999810	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.183000	0.77697	2.158000	0.67659	0.460000	0.39030	ATT		0.313	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		3	69	0	0	0	0.115264	0	3	69				
APOPT1	84334	broad.mit.edu	37	14	104056568	104056568	+	Missense_Mutation	SNP	C	C	A	rs529483936		TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	90ab9245-589c-4c76-b018-77f386ce2b7e	g.chr14:104056568C>A	ENST00000409074.2	+	5	567	c.566C>A	c.(565-567)gCc>gAc	p.A189D	APOPT1_ENST00000556253.2_3'UTR|RP11-73M18.2_ENST00000472726.2_Intron|APOPT1_ENST00000247618.4_Missense_Mutation_p.A176D|APOPT1_ENST00000477116.1_3'UTR	NM_032374.3	NP_115750.2	Q96IL0	APOP1_HUMAN	apoptogenic 1, mitochondrial	189					intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)	mitochondrion (GO:0005739)											GGAAAAGTGGCCCTGGAAAGG	0.498																																						ENST00000409074.2																			0											c.(565-567)gCc>gAc		apoptogenic 1, mitochondrial							165.0	167.0	167.0					14																	104056568		2203	4300	6503	SO:0001583	missense	84334							g.chr14:104056568C>A	BC007412	CCDS9983.2	14q32.33	2012-06-28	2012-06-28	2011-09-07	ENSG00000256053	ENSG00000256053			20492	protein-coding gene	gene with protein product	"""apoptogenic protein 1"""		"""chromosome 14 open reading frame 153"", ""apoptogenic 1"""	C14orf153		16782708, 18977203	Standard	NM_032374		Approved	MGC2562, APOP-1		Q96IL0	OTTHUMG00000153929	ENST00000409074.2:c.566C>A	14.37:g.104056568C>A	ENSP00000386485:p.Ala189Asp					RP11-73M18.2_ENST00000472726.2_Intron|APOPT1_ENST00000556253.2_3'UTR|APOPT1_ENST00000477116.1_3'UTR|APOPT1_ENST00000247618.4_Missense_Mutation_p.A176D	p.A189D	NM_032374.3	NP_115750.2					5	567	+								Q53G28	Missense_Mutation	SNP	ENST00000409074.2	37	c.566C>A	CCDS9983.2	.	.	.	.	.	.	.	.	.	.	C	13.92	2.382272	0.42207	.	.	ENSG00000256053;ENSG00000256053;ENSG00000256500	ENST00000409074;ENST00000440963;ENST00000247618	T;T;T	0.41065	1.01;1.01;1.01	5.66	2.85	0.33270	.	0.215910	0.37715	N	0.001961	T	0.30039	0.0752	L	0.34521	1.04	0.24980	N	0.9916	P	0.43477	0.808	B	0.41135	0.348	T	0.08472	-1.0720	10	0.35671	T	0.21	.	8.2787	0.31887	0.0:0.7491:0.0:0.2509	.	189	Q96IL0	APOP1_HUMAN	D	189;101;176	ENSP00000386485:A189D;ENSP00000388067:A101D;ENSP00000247618:A176D	ENSP00000247618:A176D	A	+	2	0	C14orf153;RP11-73M18.2	103126321	0.985000	0.35326	0.518000	0.27811	0.203000	0.24098	1.723000	0.38053	0.321000	0.23259	-0.136000	0.14681	GCC		0.498	APOPT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333060.2	NM_032374		4	191	1	0	0.150653	0.150653	0.158186	4	191				
CCT8L2	150160	broad.mit.edu	37	22	17072553	17072553	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	90ab9245-589c-4c76-b018-77f386ce2b7e	g.chr22:17072553C>A	ENST00000359963.3	-	1	1147	c.888G>T	c.(886-888)ttG>ttT	p.L296F		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	296					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CGACCTCCCCCAACACCACTG	0.493																																						ENST00000359963.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(886-888)ttG>ttT		chaperonin containing TCP1, subunit 8 (theta)-like 2							207.0	184.0	192.0					22																	17072553		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072553C>A	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.888G>T	22.37:g.17072553C>A	ENSP00000353048:p.Leu296Phe						p.L296F	NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN			1	1147	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	296					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.888G>T	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	c	10.10	1.256471	0.22965	.	.	ENSG00000198445	ENST00000359963	T	0.78816	-1.21	1.98	1.98	0.26296	.	0.697010	0.11886	U	0.520009	T	0.62392	0.2424	N	0.22421	0.69	0.23700	N	0.997075	B	0.25904	0.137	B	0.23018	0.043	T	0.55541	-0.8125	10	0.56958	D	0.05	-6.2386	7.4423	0.27190	0.0:1.0:0.0:0.0	.	296	Q96SF2	TCPQM_HUMAN	F	296	ENSP00000353048:L296F	ENSP00000353048:L296F	L	-	3	2	CCT8L2	15452553	0.359000	0.24955	0.286000	0.24833	0.029000	0.11900	0.793000	0.26944	1.115000	0.41800	0.379000	0.24179	TTG		0.493	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			5	233	1	0	0.00116845	0.217242	0.00136319	5	233				
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs200214744|rs565505867	byFrequency	TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	90ab9245-589c-4c76-b018-77f386ce2b7e	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662																																						ENST00000391413.2																			4	Substitution - Missense(4)	p.M93V(4)	endometrium(3)|kidney(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(277-279)Atg>Gtg		keratin associated protein 4-11							6.0	10.0	8.0					17																	39274291		651	1556	2207	SO:0001583	missense	653240					keratin filament		g.chr17:39274291T>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.277A>G	17.37:g.39274291T>C	ENSP00000375232:p.Met93Val						p.M93V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	315	-		Breast(137;0.000496)	93			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.277A>G	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	0.073	-1.199029	0.01581	.	.	ENSG00000212721	ENST00000391413	T	0.00580	6.43	4.25	-4.9	0.03094	.	.	.	.	.	T	0.00109	0.0003	N	0.00040	-2.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43097	-0.9412	9	0.02654	T	1	.	0.4739	0.00536	0.3479:0.2455:0.1203:0.2863	.	93	Q9BYQ6	KR411_HUMAN	V	93	ENSP00000375232:M93V	ENSP00000375232:M93V	M	-	1	0	KRTAP4-11	36527817	.	.	0.012000	0.15200	0.010000	0.07245	.	.	-1.319000	0.02286	-1.132000	0.01976	ATG		0.662	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			3	44	0	0	0	0.184627	0	3	44				
ATP5B	506	broad.mit.edu	37	12	57032140	57032140	+	Silent	SNP	T	T	C			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	90ab9245-589c-4c76-b018-77f386ce2b7e	g.chr12:57032140T>C	ENST00000262030.3	-	10	1607	c.1557A>G	c.(1555-1557)aaA>aaG	p.K519K	BAZ2A_ENST00000379441.3_5'Flank|ATP5B_ENST00000552919.1_Silent_p.K508K|BAZ2A_ENST00000179765.5_5'Flank|ATP5B_ENST00000550162.1_5'Flank|BAZ2A_ENST00000551812.1_5'Flank	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	519					angiogenesis (GO:0001525)|ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|osteoblast differentiation (GO:0001649)|proton transport (GO:0015992)|regulation of intracellular pH (GO:0051453)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial nucleoid (GO:0042645)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase, catalytic core (GO:0005754)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCTTATCAGCTTTTGCCACAG	0.448																																						ENST00000262030.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1555-1557)aaA>aaG		ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide							183.0	172.0	176.0					12																	57032140		2203	4300	6503	SO:0001819	synonymous_variant	506				angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr12:57032140T>C	M27132	CCDS8924.1	12p13.3	2012-10-12			ENSG00000110955	ENSG00000110955	3.6.3.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	830	protein-coding gene	gene with protein product		102910		ATPSB		2687158	Standard	NM_001686		Approved		uc001slr.3	P06576	OTTHUMG00000170291	ENST00000262030.3:c.1557A>G	12.37:g.57032140T>C						ATP5B_ENST00000552919.1_Silent_p.K508K	p.K519K	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN			10	1607	-			519					A8K4X0|Q14283	Silent	SNP	ENST00000262030.3	37	c.1557A>G	CCDS8924.1																																																																																				0.448	ATP5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408380.1	NM_001686		3	215	0	0	0	0.150653	0	3	215				
SUZ12P1	440423	broad.mit.edu	37	17	29061941	29061941	+	RNA	SNP	T	T	C	rs112064181		TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	90ab9245-589c-4c76-b018-77f386ce2b7e	g.chr17:29061941T>C	ENST00000582557.1	+	0	861																											TAGATTTCTTTGAACTCGGAA	0.303																																						ENST00000582557.1																			0																																																			0							g.chr17:29061941T>C																													17.37:g.29061941T>C														0	861	+									RNA	SNP	ENST00000582557.1	37																																																																																						0.303	SUZ12P-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444260.1			5	85	0	0	0	0.184627	0	5	85				
CCDC105	126402	broad.mit.edu	37	19	15131324	15131324	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	90ab9245-589c-4c76-b018-77f386ce2b7e	g.chr19:15131324C>A	ENST00000292574.3	+	3	809	c.727C>A	c.(727-729)Caa>Aaa	p.Q243K		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	243						extracellular vesicular exosome (GO:0070062)		p.Q243K(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						GGAGCGGCTCCAAGCCGTGGA	0.617																																						ENST00000292574.3																			1	Substitution - Missense(1)	p.Q243K(1)	prostate(1)	NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						c.(727-729)Caa>Aaa		coiled-coil domain containing 105							51.0	46.0	48.0					19																	15131324		2203	4300	6503	SO:0001583	missense	126402				microtubule cytoskeleton organization	microtubule		g.chr19:15131324C>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.727C>A	19.37:g.15131324C>A	ENSP00000292574:p.Gln243Lys						p.Q243K	NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN			3	809	+			243					Q8N7T5|Q8NDL5	Missense_Mutation	SNP	ENST00000292574.3	37	c.727C>A	CCDS12322.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869690	0.33069	.	.	ENSG00000160994	ENST00000292574	T	0.02323	4.34	4.09	4.09	0.47781	.	0.000000	0.50627	D	0.000113	T	0.09024	0.0223	M	0.65975	2.015	0.25256	N	0.989634	D	0.65815	0.995	P	0.61722	0.893	T	0.18085	-1.0348	10	0.11485	T	0.65	-17.0275	12.2139	0.54396	0.0:1.0:0.0:0.0	.	243	Q8IYK2	CC105_HUMAN	K	243	ENSP00000292574:Q243K	ENSP00000292574:Q243K	Q	+	1	0	CCDC105	14992324	0.998000	0.40836	0.956000	0.39512	0.038000	0.13279	3.739000	0.55075	1.982000	0.57802	0.558000	0.71614	CAA		0.617	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482		4	39	1	0	0.150653	0.150653	0.158186	4	39				
SMU1	55234	broad.mit.edu	37	9	33056918	33056918	+	Silent	SNP	C	C	T			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	90ab9245-589c-4c76-b018-77f386ce2b7e	g.chr9:33056918C>T	ENST00000397149.3	-	8	962	c.912G>A	c.(910-912)agG>agA	p.R304R	SMU1_ENST00000536631.1_Silent_p.R143R	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	304						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R304R(1)		endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		TACTGTGTGCCCTCTCAAATC	0.353																																						ENST00000397149.3																			1	Substitution - coding silent(1)	p.R304R(1)	prostate(1)	endometrium(2)|lung(4)|ovary(2)|prostate(1)	9						c.(910-912)agG>agA		smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)							128.0	129.0	129.0					9																	33056918		2203	4300	6503	SO:0001819	synonymous_variant	55234					cytoplasm|nucleus		g.chr9:33056918C>T	AK001667	CCDS6534.1	9p12	2013-01-10			ENSG00000122692	ENSG00000122692		"""WD repeat domain containing"""	18247	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 57"""					11438655, 11410362	Standard	NM_018225		Approved	SMU-1, FLJ10805, BWD, fSAP57	uc003zsf.1	Q2TAY7	OTTHUMG00000019757	ENST00000397149.3:c.912G>A	9.37:g.33056918C>T						SMU1_ENST00000536631.1_Silent_p.R143R	p.R304R	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)	8	962	-			304					B4E3L0|Q9BU59|Q9HA96|Q9NVD1	Silent	SNP	ENST00000397149.3	37	c.912G>A	CCDS6534.1																																																																																				0.353	SMU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052022.1	NM_018225		12	174	0	0	0	0.457914	0	12	174				
NR1I2	8856	broad.mit.edu	37	3	119531666	119531666	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	90ab9245-589c-4c76-b018-77f386ce2b7e	g.chr3:119531666A>G	ENST00000337940.4	+	5	818	c.770A>G	c.(769-771)gAg>gGg	p.E257G	NR1I2_ENST00000466380.1_Missense_Mutation_p.E181G|NR1I2_ENST00000393716.2_Missense_Mutation_p.E218G	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	218	Ligand-binding.				drug export (GO:0046618)|exogenous drug catabolic process (GO:0042738)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|steroid metabolic process (GO:0008202)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)|xenobiotic transport (GO:0042908)	nucleoplasm (GO:0005654)	drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.E257G(2)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Docetaxel(DB01248)|Erlotinib(DB00530)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Paclitaxel(DB01229)|Rifampicin(DB01045)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Vitamin E(DB00163)	CTGCGGGGGGAGGATGGCAGT	0.582																																						ENST00000393716.2																			2	Substitution - Missense(2)	p.E257G(2)	prostate(2)	breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23						c.(652-654)gAg>gGg		nuclear receptor subfamily 1, group I, member 2	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)						77.0	76.0	77.0					3																	119531666		2203	4300	6503	SO:0001583	missense	8856				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr3:119531666A>G	AF061056	CCDS2995.1, CCDS43136.1, CCDS54627.1	3q12-q13.3	2013-03-25			ENSG00000144852	ENSG00000144852		"""Nuclear hormone receptors"""	7968	protein-coding gene	gene with protein product	"""pregnane X receptor"", ""orphan nuclear receptor PXR"""	603065				9727070, 9770465	Standard	NM_003889		Approved	ONR1, PXR, BXR, SXR, PAR2	uc003edk.3	O75469	OTTHUMG00000159400	ENST00000337940.4:c.770A>G	3.37:g.119531666A>G	ENSP00000336528:p.Glu257Gly					NR1I2_ENST00000466380.1_Missense_Mutation_p.E181G|NR1I2_ENST00000337940.4_Missense_Mutation_p.E257G	p.E218G	NM_003889.3	NP_003880.3	O75469	NR1I2_HUMAN		GBM - Glioblastoma multiforme(114;0.175)	5	2492	+			218			Ligand-binding.		Q006P5|Q008C8|Q96AC7|Q9UJ22|Q9UJ23|Q9UJ24|Q9UJ25|Q9UJ26|Q9UJ27|Q9UNW4	Missense_Mutation	SNP	ENST00000337940.4	37	c.653A>G	CCDS2995.1	.	.	.	.	.	.	.	.	.	.	A	16.17	3.047255	0.55110	.	.	ENSG00000144852	ENST00000393716;ENST00000466380;ENST00000337940	D;D;D	0.96011	-3.88;-3.88;-3.88	4.27	4.27	0.50696	Nuclear hormone receptor, ligand-binding (1);	0.505078	0.16746	N	0.201231	D	0.96513	0.8862	M	0.61703	1.905	0.29368	N	0.864216	P;D;B	0.71674	0.871;0.998;0.077	B;D;B	0.77004	0.318;0.989;0.128	D	0.92340	0.5881	10	0.42905	T	0.14	.	9.7268	0.40337	1.0:0.0:0.0:0.0	.	218;257;204	O75469;F1D8P9;O75469-6	NR1I2_HUMAN;.;.	G	218;181;257	ENSP00000377319:E218G;ENSP00000420297:E181G;ENSP00000336528:E257G	ENSP00000336528:E257G	E	+	2	0	NR1I2	121014356	0.486000	0.25980	0.788000	0.31933	0.979000	0.70002	2.126000	0.42026	1.801000	0.52704	0.459000	0.35465	GAG		0.582	NR1I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355126.1			3	88	0	0	0	0.150653	0	3	88				
FLG2	388698	broad.mit.edu	37	1	152326999	152326999	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	90ab9245-589c-4c76-b018-77f386ce2b7e	g.chr1:152326999C>T	ENST00000388718.5	-	3	3335	c.3263G>A	c.(3262-3264)gGc>gAc	p.G1088D	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1088	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.G1088D(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGACCATAGCCAGATGATTG	0.498																																						ENST00000388718.5																			1	Substitution - Missense(1)	p.G1088D(1)	prostate(1)	NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(3262-3264)gGc>gAc		filaggrin family member 2							321.0	323.0	322.0					1																	152326999		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152326999C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.3263G>A	1.37:g.152326999C>T	ENSP00000373370:p.Gly1088Asp					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.G1088D	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3335	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1088			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.3263G>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	2.068	-0.413653	0.04799	.	.	ENSG00000143520	ENST00000388718	T	0.21031	2.03	3.6	0.479	0.16796	.	.	.	.	.	T	0.01870	0.0059	N	0.13098	0.295	0.09310	N	1	P	0.39480	0.675	B	0.26202	0.067	T	0.37865	-0.9687	9	0.11794	T	0.64	2.797	3.936	0.09305	0.0:0.5591:0.1998:0.2411	.	1088	Q5D862	FILA2_HUMAN	D	1088	ENSP00000373370:G1088D	ENSP00000373370:G1088D	G	-	2	0	FLG2	150593623	0.009000	0.17119	0.000000	0.03702	0.003000	0.03518	0.259000	0.18405	0.221000	0.20879	0.558000	0.71614	GGC		0.498	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		11	381	0	0	0	0.387290	0	11	381				
ASPHD2	57168	broad.mit.edu	37	22	26829759	26829759	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	90ab9245-589c-4c76-b018-77f386ce2b7e	g.chr22:26829759G>A	ENST00000215906.5	+	2	616	c.178G>A	c.(178-180)Gct>Act	p.A60T		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	60					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.A34T(1)		endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						CGACACCACCGCTGTCATCAC	0.647																																						ENST00000215906.5																			1	Substitution - Missense(1)	p.A34T(1)	prostate(1)	endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						c.(178-180)Gct>Act		aspartate beta-hydroxylase domain containing 2							95.0	80.0	85.0					22																	26829759		2203	4300	6503	SO:0001583	missense	57168				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity	g.chr22:26829759G>A	AK097157	CCDS13834.2	22q12.1	2006-02-02			ENSG00000128203	ENSG00000128203			30437	protein-coding gene	gene with protein product							Standard	NM_020437		Approved	FLJ39838	uc003acg.2	Q6ICH7	OTTHUMG00000150884	ENST00000215906.5:c.178G>A	22.37:g.26829759G>A	ENSP00000215906:p.Ala60Thr						p.A60T	NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN			2	616	+			60					B2RCH3|Q7L0W3|Q9NSN3	Missense_Mutation	SNP	ENST00000215906.5	37	c.178G>A	CCDS13834.2	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894751	0.52121	.	.	ENSG00000128203	ENST00000215906	T	0.50277	0.75	4.57	4.57	0.56435	.	0.132959	0.49916	D	0.000133	T	0.42585	0.1209	N	0.24115	0.695	0.54753	D	0.999986	D	0.56968	0.978	P	0.47626	0.552	T	0.49011	-0.8983	10	0.66056	D	0.02	-23.7877	16.5399	0.84382	0.0:0.0:1.0:0.0	.	60	Q6ICH7	ASPH2_HUMAN	T	60	ENSP00000215906:A60T	ENSP00000215906:A60T	A	+	1	0	ASPHD2	25159759	1.000000	0.71417	0.072000	0.20136	0.541000	0.35023	6.640000	0.74319	2.368000	0.80403	0.563000	0.77884	GCT		0.647	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320422.1	NM_020437		4	91	0	0	0	0.184627	0	4	91				
OBSCN	84033	broad.mit.edu	37	1	228481211	228481211	+	Silent	SNP	C	C	T			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	90ab9245-589c-4c76-b018-77f386ce2b7e	g.chr1:228481211C>T	ENST00000422127.1	+	41	11069	c.11025C>T	c.(11023-11025)gaC>gaT	p.D3675D	OBSCN_ENST00000366707.4_Silent_p.D794D|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000284548.11_Silent_p.D3675D|OBSCN_ENST00000359599.6_Silent_p.D2522D|OBSCN_ENST00000570156.2_Silent_p.D4104D|OBSCN_ENST00000366709.4_Silent_p.D794D	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3675	Ig-like 37.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.D3729D(1)|p.D3958D(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGAGGCAGGACGGGGCCAGGT	0.652																																						ENST00000570156.2																			2	Substitution - coding silent(2)	p.D3729D(1)|p.D3958D(1)	prostate(2)	NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(12310-12312)gaC>gaT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							98.0	104.0	102.0					1																	228481211		2166	4259	6425	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228481211C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.11025C>T	1.37:g.228481211C>T						OBSCN_ENST00000284548.11_Silent_p.D3675D|OBSCN_ENST00000422127.1_Silent_p.D3675D|OBSCN_ENST00000366709.4_Silent_p.D794D|OBSCN_ENST00000366707.4_Silent_p.D794D|OBSCN_ENST00000359599.6_Silent_p.D2522D	p.D4104D	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			46	12386	+		Prostate(94;0.0405)	3146			Ig-like 42.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.12312C>T	CCDS58065.1																																																																																				0.652	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		4	81	0	0	0	0.184627	0	4	81				
FAT2	2196	broad.mit.edu	37	5	150922324	150922324	+	Silent	SNP	T	T	C	rs35581702		TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	90ab9245-589c-4c76-b018-77f386ce2b7e	g.chr5:150922324T>C	ENST00000261800.5	-	9	8376	c.8364A>G	c.(8362-8364)ggA>ggG	p.G2788G		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2788	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATTGACGTCTCCCACTTGGA	0.478																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(8362-8364)ggA>ggG		FAT atypical cadherin 2							179.0	164.0	169.0					5																	150922324		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150922324T>C	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.8364A>G	5.37:g.150922324T>C							p.G2788G	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	8376	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2788			Cadherin 24.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.8364A>G	CCDS4317.1																																																																																				0.478	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		3	181	0	0	0	0.115264	0	3	181				
TTBK1	84630	broad.mit.edu	37	6	43251485	43251485	+	Missense_Mutation	SNP	C	C	G	rs201098083	byFrequency	TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	90ab9245-589c-4c76-b018-77f386ce2b7e	g.chr6:43251485C>G	ENST00000259750.4	+	14	3090	c.3007C>G	c.(3007-3009)Cgg>Ggg	p.R1003G		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1003					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R1003G(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TGGGGCCCCCCGGGAAACCCC	0.697																																						ENST00000259750.4																			1	Substitution - Missense(1)	p.R1003G(1)	prostate(1)	breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(3007-3009)Cgg>Ggg		tau tubulin kinase 1							17.0	22.0	21.0					6																	43251485		2181	4269	6450	SO:0001583	missense	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43251485C>G	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.3007C>G	6.37:g.43251485C>G	ENSP00000259750:p.Arg1003Gly						p.R1003G	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		14	3090	+			1003					A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	c.3007C>G	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-2.946762	0.00051	.	.	ENSG00000146216	ENST00000259750	T	0.49432	0.78	5.25	-1.5	0.08691	.	2.102200	0.01961	N	0.043321	T	0.05456	0.0144	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07809	-1.0753	10	0.30854	T	0.27	.	2.6526	0.05003	0.3558:0.1092:0.4249:0.1101	.	1003	Q5TCY1	TTBK1_HUMAN	G	1003	ENSP00000259750:R1003G	ENSP00000259750:R1003G	R	+	1	2	TTBK1	43359463	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.134000	0.10436	-0.722000	0.04922	-1.277000	0.01392	CGG		0.697	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			3	39	0	0	0	0.150653	0	3	39				
LGR5	8549	broad.mit.edu	37	12	71977709	71977709	+	Missense_Mutation	SNP	T	T	C	rs372546802		TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	90ab9245-589c-4c76-b018-77f386ce2b7e	g.chr12:71977709T>C	ENST00000266674.5	+	18	2230	c.1919T>C	c.(1918-1920)aTt>aCt	p.I640T	LGR5_ENST00000540815.2_Missense_Mutation_p.I616T|RP11-186F10.2_ENST00000546601.1_RNA|LGR5_ENST00000536515.1_Missense_Mutation_p.I568T			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	640					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.I640T(1)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TGCCATGTCATTGGTTTTTTG	0.493																																						ENST00000266674.5																		NUP107/LGR5(2)	1	Substitution - Missense(1)	p.I640T(1)	prostate(1)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						c.(1918-1920)aTt>aCt		leucine-rich repeat containing G protein-coupled receptor 5		T	THR/ILE	1,4405	2.1+/-5.4	0,1,2202	188.0	142.0	158.0		1919	3.6	0.0	12		158	0,8600		0,0,4300	no	missense	LGR5	NM_003667.2	89	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign	640/908	71977709	1,13005	2203	4300	6503	SO:0001583	missense	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71977709T>C	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.1919T>C	12.37:g.71977709T>C	ENSP00000266674:p.Ile640Thr					LGR5_ENST00000540815.2_Missense_Mutation_p.I616T|LGR5_ENST00000536515.1_Missense_Mutation_p.I568T	p.I640T			O75473	LGR5_HUMAN			18	2230	+			640					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	c.1919T>C	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	T	0.040	-1.286619	0.01387	2.27E-4	0.0	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	T;T;T	0.80214	-1.35;-1.35;-1.35	5.95	3.61	0.41365	GPCR, rhodopsin-like superfamily (1);	0.545185	0.17295	N	0.179484	T	0.39708	0.1088	N	0.00128	-2.045	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.43458	-0.9390	10	0.15952	T	0.53	.	6.141	0.20259	0.0:0.3374:0.0:0.6626	.	616;640	O75473-2;O75473	.;LGR5_HUMAN	T	640;640;568;616	ENSP00000266674:I640T;ENSP00000443033:I568T;ENSP00000441035:I616T	ENSP00000266674:I640T	I	+	2	0	LGR5	70263976	0.604000	0.26932	0.005000	0.12908	0.934000	0.57294	2.673000	0.46858	1.071000	0.40834	0.533000	0.62120	ATT		0.493	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		21	57	0	0	0	0.592651	0	21	57				
ZNF766	90321	broad.mit.edu	37	19	52793389	52793389	+	Silent	SNP	G	G	A			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	90ab9245-589c-4c76-b018-77f386ce2b7e	g.chr19:52793389G>A	ENST00000439461.1	+	4	388	c.345G>A	c.(343-345)caG>caA	p.Q115Q	ZNF766_ENST00000359102.4_Silent_p.Q130Q|ZNF766_ENST00000593612.1_Silent_p.Q130Q|CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000599581.1_3'UTR	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	115					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.Q115Q(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		TAACCTTTCAGTTACCTCTGC	0.398																																						ENST00000439461.1																			1	Substitution - coding silent(1)	p.Q115Q(1)	prostate(1)	breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17						c.(343-345)caG>caA		zinc finger protein 766							80.0	82.0	81.0					19																	52793389		1997	4202	6199	SO:0001819	synonymous_variant	90321				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52793389G>A	AK024074	CCDS46163.1	19q13.33	2013-01-08				ENSG00000196214		"""Zinc fingers, C2H2-type"", ""-"""	28063	protein-coding gene	gene with protein product							Standard	XM_006723458		Approved		uc002pyr.1	Q5HY98		ENST00000439461.1:c.345G>A	19.37:g.52793389G>A						ZNF766_ENST00000599581.1_3'UTR|ZNF766_ENST00000593612.1_Silent_p.Q130Q|ZNF766_ENST00000359102.4_Silent_p.Q130Q|CTD-2525I3.5_ENST00000594865.1_RNA	p.Q115Q	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN		GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)	4	388	+			115					B2RNE0|Q7Z326	Silent	SNP	ENST00000439461.1	37	c.345G>A	CCDS46163.1																																																																																				0.398	ZNF766-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462764.1	NM_001010851		4	67	0	0	0	0.150653	0	4	67				
PHKB	5257	broad.mit.edu	37	16	47533728	47533728	+	Silent	SNP	C	C	T	rs200312877		TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	90ab9245-589c-4c76-b018-77f386ce2b7e	g.chr16:47533728C>T	ENST00000323584.5	+	3	252	c.228C>T	c.(226-228)tgC>tgT	p.C76C	PHKB_ENST00000566044.1_Silent_p.C69C|PHKB_ENST00000567402.1_3'UTR|PHKB_ENST00000299167.8_Silent_p.C76C|PHKB_ENST00000455779.1_Silent_p.C69C	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	76					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				CTAAAACATGCGGTGGTGACC	0.507																																						ENST00000455779.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41						c.(205-207)tgC>tgT		phosphorylase kinase, beta							161.0	150.0	154.0					16																	47533728		2201	4300	6501	SO:0001819	synonymous_variant	5257				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	g.chr16:47533728C>T		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.228C>T	16.37:g.47533728C>T						PHKB_ENST00000323584.5_Silent_p.C76C|PHKB_ENST00000299167.8_Silent_p.C76C|PHKB_ENST00000567402.1_3'UTR|PHKB_ENST00000566044.1_Silent_p.C69C	p.C69C			Q93100	KPBB_HUMAN			4	392	+		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)	76					Q8N4T5	Silent	SNP	ENST00000323584.5	37	c.207C>T	CCDS10729.1																																																																																				0.507	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			4	153	0	0	0	0.150653	0	4	153				
APBB1	322	broad.mit.edu	37	11	6432291	6432291	+	Missense_Mutation	SNP	G	G	A	rs138898127	byFrequency	TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	90ab9245-589c-4c76-b018-77f386ce2b7e	g.chr11:6432291G>A	ENST00000609360.1	-	2	386	c.287C>T	c.(286-288)gCg>gTg	p.A96V	APBB1_ENST00000299402.6_Missense_Mutation_p.A96V|APBB1_ENST00000311051.3_Missense_Mutation_p.A96V|APBB1_ENST00000389906.2_Missense_Mutation_p.A96V	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	96					apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)	p.A96V(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GGCCTCCTCCGCCAAGGTCAA	0.632																																					GBM(147;1810 2556 5672 39622)	ENST00000389906.2																			1	Substitution - Missense(1)	p.A96V(1)	prostate(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(286-288)gCg>gTg		amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)		G	VAL/ALA,VAL/ALA	3,4399	6.2+/-15.9	0,3,2198	144.0	160.0	155.0		287,287	3.3	0.7	11	dbSNP_134	155	1,8591	1.2+/-3.3	0,1,4295	yes	missense,missense	APBB1	NM_001164.2,NM_145689.1	64,64	0,4,6493	AA,AG,GG		0.0116,0.0682,0.0308	possibly-damaging,possibly-damaging	96/711,96/709	6432291	4,12990	2201	4296	6497	SO:0001583	missense	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6432291G>A	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.287C>T	11.37:g.6432291G>A	ENSP00000477213:p.Ala96Val					APBB1_ENST00000533407.1_Intron|APBB1_ENST00000311051.3_Missense_Mutation_p.A96V|APBB1_ENST00000299402.6_Missense_Mutation_p.A96V	p.A96V	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	2	386	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	96					A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37	c.287C>T		.	.	.	.	.	.	.	.	.	.	G	10.08	1.252995	0.22965	6.82E-4	1.16E-4	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906	T;T;T	0.14391	2.51;2.51;2.51	4.21	3.26	0.37387	.	0.343920	0.23162	N	0.051239	T	0.13970	0.0338	N	0.14661	0.345	0.20873	N	0.99984	D	0.69078	0.997	P	0.57502	0.822	T	0.13098	-1.0522	10	0.27785	T	0.31	-10.4606	10.5629	0.45156	0.1059:0.0:0.8941:0.0	.	96	O00213-2	.	V	96	ENSP00000299402:A96V;ENSP00000311912:A96V;ENSP00000374556:A96V	ENSP00000299402:A96V	A	-	2	0	APBB1	6388867	0.971000	0.33674	0.725000	0.30721	0.631000	0.37964	1.785000	0.38684	2.074000	0.62210	0.393000	0.25936	GCG		0.632	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		10	308	0	0	0	0.387290	0	10	308				
PCDHGB7	56099	broad.mit.edu	37	5	140798766	140798766	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	90ab9245-589c-4c76-b018-77f386ce2b7e	g.chr5:140798766A>G	ENST00000398594.2	+	1	1340	c.1340A>G	c.(1339-1341)gAc>gGc	p.D447G	PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	447	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D447G(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGTCAATGACAACGCGCCG	0.572																																						ENST00000398594.2																			1	Substitution - Missense(1)	p.D447G(1)	prostate(1)	central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56						c.(1339-1341)gAc>gGc									63.0	73.0	69.0					5																	140798766		2148	4239	6387	SO:0001583	missense	0							g.chr5:140798766A>G	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1340A>G	5.37:g.140798766A>G	ENSP00000381594:p.Asp447Gly					PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron	p.D447G	NM_018927.3	NP_061750.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1340	+								Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	c.1340A>G	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	a	14.91	2.675092	0.47781	.	.	ENSG00000254122	ENST00000398594	T	0.71698	-0.59	5.57	5.57	0.84162	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.34386	U	0.004006	D	0.91610	0.7349	H	0.99719	4.725	0.43347	D	0.995408	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95334	0.8432	10	0.87932	D	0	.	15.7379	0.77859	1.0:0.0:0.0:0.0	.	447;447	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	G	447	ENSP00000381594:D447G	ENSP00000381594:D447G	D	+	2	0	PCDHGB7	140778950	1.000000	0.71417	1.000000	0.80357	0.140000	0.21249	9.246000	0.95438	2.117000	0.64856	0.402000	0.26972	GAC		0.572	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		7	54	0	0	0	0.307466	0	7	54				
NFE2L1	4779	broad.mit.edu	37	17	46128887	46128887	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	90ab9245-589c-4c76-b018-77f386ce2b7e	g.chr17:46128887C>A	ENST00000362042.3	+	2	1023	c.407C>A	c.(406-408)cCa>cAa	p.P136Q	NFE2L1_ENST00000585291.1_Missense_Mutation_p.P136Q|NFE2L1_ENST00000357480.5_Missense_Mutation_p.P136Q|NFE2L1_ENST00000361665.3_Missense_Mutation_p.P136Q	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	136	Asp/Glu-rich (acidic).				anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)	p.P136Q(1)		cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTGACAGGCCCAGACAACGGG	0.592																																						ENST00000362042.3																			1	Substitution - Missense(1)	p.P136Q(1)	prostate(1)	cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(406-408)cCa>cAa		nuclear factor, erythroid 2-like 1							65.0	73.0	70.0					17																	46128887		2203	4300	6503	SO:0001583	missense	4779				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr17:46128887C>A	AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.407C>A	17.37:g.46128887C>A	ENSP00000354855:p.Pro136Gln					NFE2L1_ENST00000361665.3_Missense_Mutation_p.P136Q|NFE2L1_ENST00000357480.5_Missense_Mutation_p.P136Q|NFE2L1_ENST00000585291.1_Missense_Mutation_p.P136Q	p.P136Q	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN			2	1023	+			136			Asp/Glu-rich (acidic).		D3DTU3|D3DTU5|Q12877|Q96FN6	Missense_Mutation	SNP	ENST00000362042.3	37	c.407C>A	CCDS11524.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.239991	0.58995	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480	T;T	0.47869	0.83;0.83	5.3	5.3	0.74995	.	0.783877	0.11979	N	0.510972	T	0.51719	0.1691	L	0.44542	1.39	0.80722	D	1	P;P;P	0.46512	0.879;0.527;0.549	P;B;B	0.48270	0.572;0.354;0.265	T	0.40079	-0.9582	10	0.27785	T	0.31	-2.6793	17.7252	0.88363	0.0:1.0:0.0:0.0	.	136;136;136	A3KMG6;Q14494-2;Q14494	.;.;NF2L1_HUMAN	Q	155;136;136	ENSP00000355190:P136Q;ENSP00000350072:P136Q	ENSP00000350072:P136Q	P	+	2	0	NFE2L1	43483886	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	3.502000	0.53332	2.495000	0.84180	0.563000	0.77884	CCA		0.592	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	NM_003204		4	88	1	0	0.150653	0.150653	0.158186	4	88				
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A	rs200209148	byFrequency	TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	90ab9245-589c-4c76-b018-77f386ce2b7e	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										TGAGGCTGCCGTTGTAGAAGG	0.612																																						ENST00000412448.1																			0																																																			0							g.chr22:18769145G>A			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18769145G>A														0	1141	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.612	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		4	26	0	0	0	0.150653	0	4	26				
NOTCH4	4855	broad.mit.edu	37	6	32163814	32163814	+	Silent	SNP	C	C	T			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	90ab9245-589c-4c76-b018-77f386ce2b7e	g.chr6:32163814C>T	ENST00000375023.3	-	30	5550	c.5412G>A	c.(5410-5412)gcG>gcA	p.A1804A	NOTCH4_ENST00000443903.2_Missense_Mutation_p.G181R|GPSM3_ENST00000375043.3_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1804					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.A1804A(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GAGCGACGTCCGCCGGCGCTA	0.701																																						ENST00000443903.2																			1	Substitution - coding silent(1)	p.A1804A(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(541-543)Gga>Aga		notch 4							8.0	10.0	10.0					6																	32163814		1396	2628	4024	SO:0001819	synonymous_variant	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32163814C>T		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.5412G>A	6.37:g.32163814C>T						NOTCH4_ENST00000375023.3_Silent_p.A1804A	p.G181R			Q99466	NOTC4_HUMAN			3	541	-			1180			EGF-like 4.		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.541G>A	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.395074	0.25205	.	.	ENSG00000204301	ENST00000443903	T	0.72615	-0.67	4.71	-7.09	0.01553	.	.	.	.	.	T	0.23572	0.0570	.	.	.	0.18873	N	0.999982	B	0.13145	0.007	B	0.08055	0.003	T	0.11891	-1.0569	8	0.18276	T	0.48	.	8.4362	0.32789	0.0:0.2422:0.1972:0.5606	.	181	B4DFM3	.	R	181	ENSP00000398123:G181R	ENSP00000398123:G181R	G	-	1	0	NOTCH4	32271792	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-2.612000	0.00884	-1.610000	0.01583	-0.251000	0.11542	GGA		0.701	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			3	11	0	0	0	0.115264	0	3	11				
CTDSP2	10106	broad.mit.edu	37	12	58223322	58223322	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	90ab9245-589c-4c76-b018-77f386ce2b7e	g.chr12:58223322A>G	ENST00000398073.2	-	2	425	c.122T>C	c.(121-123)cTt>cCt	p.L41P	CTDSP2_ENST00000548823.1_Intron|CTDSP2_ENST00000547701.1_5'UTR	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2	41					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein dephosphorylation (GO:0006470)	nucleoplasm (GO:0005654)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)	p.L41P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					ACAGCAGAAAAGGGCCTTGAA	0.532																																						ENST00000398073.2																			1	Substitution - Missense(1)	p.L41P(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7						c.(121-123)cTt>cCt		CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2							134.0	133.0	134.0					12																	58223322		2009	4168	6177	SO:0001583	missense	10106				protein dephosphorylation	nucleus|soluble fraction	CTD phosphatase activity|metal ion binding	g.chr12:58223322A>G	AF000152	CCDS41801.1	12q14.1	2012-06-14			ENSG00000175215	ENSG00000175215		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	17077	protein-coding gene	gene with protein product	"""conserved gene amplified in osteosarcoma"", ""nuclear LIM interactor-interacting factor 2"", ""NLI-interacting factor 2"", ""small CTD phosphatase 2"""	608711				9315096, 12721286	Standard	XM_005268556		Approved	OS4, SCP2, PSR2	uc001sqm.3	O14595	OTTHUMG00000170483	ENST00000398073.2:c.122T>C	12.37:g.58223322A>G	ENSP00000381148:p.Leu41Pro					CTDSP2_ENST00000548823.1_Intron|CTDSP2_ENST00000547701.1_5'UTR	p.L41P	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN			2	425	-	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)		41					A8K5H4|Q53ZR2|Q6NZY3|Q9UEX1	Missense_Mutation	SNP	ENST00000398073.2	37	c.122T>C	CCDS41801.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.166903	0.78339	.	.	ENSG00000175215	ENST00000398073	T	0.24151	1.87	4.68	4.68	0.58851	.	0.123947	0.56097	D	0.000035	T	0.50820	0.1638	M	0.78456	2.415	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.56709	-0.7934	10	0.87932	D	0	-4.8205	13.5101	0.61506	1.0:0.0:0.0:0.0	.	41	O14595	CTDS2_HUMAN	P	41	ENSP00000381148:L41P	ENSP00000381148:L41P	L	-	2	0	CTDSP2	56509589	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.124000	0.71620	2.094000	0.63399	0.533000	0.62120	CTT		0.532	CTDSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409353.1	NM_005730		3	123	0	0	0	0.115264	0	3	123				
HLA-DRB6	3128	broad.mit.edu	37	6	32523362	32523363	+	RNA	INS	-	-	GATA	rs142676080|rs190692498		TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr6:32523362_32523363insGATA	ENST00000411500.1	-	0	458					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		AAAGCAATGTGGATAAAGGGAC	0.431																																						ENST00000411500.1																			0																																																			0							g.chr6:32523362_32523363insGATA	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32523363_32523366dupGATA								NR_001298.1						0	458	-									RNA	INS	ENST00000411500.1	37																																																																																						0.431	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		3	5						3	5	---	---	---	---
CCT6P1	643253	broad.mit.edu	37	7	65226569	65226569	+	RNA	DEL	T	T	-			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr7:65226569delT	ENST00000442266.1	+	0	1167				SNORA15_ENST00000384058.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		gcccggccCCttttttttttt	0.413																																						ENST00000442266.1																			0																																																			0							g.chr7:65226569delT	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65226569delT														0	1167	+									RNA	DEL	ENST00000442266.1	37																																																																																						0.413	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		3	3						3	3	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11085531	11085533	+	RNA	DEL	AAA	AAA	-	rs376459584		TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr21:11085531_11085533delAAA	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		caccaccactaaaaccacgacca	0.596																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11085531_11085533delAAA	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11085531_11085533delAAA												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.596	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		2	4						2	4	---	---	---	---
TMEM131	23505	broad.mit.edu	37	2	98427639	98427639	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	90ab9245-589c-4c76-b018-77f386ce2b7e	g.chr2:98427639delT	ENST00000186436.5	-	18	2148	c.1920delA	c.(1918-1920)aaafs	p.K640fs		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	640						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCCCCTCTAATTTTTTTGCAG	0.393																																						ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(1918-1920)aafs		transmembrane protein 131							277.0	265.0	269.0					2																	98427639		1831	4095	5926	SO:0001589	frameshift_variant	23505					integral to membrane		g.chr2:98427639delT	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.1920delA	2.37:g.98427639delT	ENSP00000186436:p.Lys640fs						p.K640fs	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			18	2148	-			640						Frame_Shift_Del	DEL	ENST00000186436.5	37	c.1920delA	CCDS46368.1																																																																																				0.393	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		7	425						7	425	---	---	---	---
TSKU	25987	broad.mit.edu	37	11	76506673	76506675	+	In_Frame_Del	DEL	CTG	CTG	-	rs149062181		TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	90ab9245-589c-4c76-b018-77f386ce2b7e	g.chr11:76506673_76506675delCTG	ENST00000527881.1	+	2	1039_1041	c.13_15delCTG	c.(13-15)ctgdel	p.L9del	TSKU_ENST00000333090.4_In_Frame_Del_p.L9del			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	9					anterior commissure morphogenesis (GO:0021960)|ciliary body morphogenesis (GO:0061073)|corpus callosum morphogenesis (GO:0021540)|lateral ventricle development (GO:0021670)|negative regulation of Wnt signaling pathway (GO:0030178)|regulation of gene expression (GO:0010468)	extracellular space (GO:0005615)				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					GCCGTGGCCCCTGCTGCTGCTGC	0.616																																						ENST00000527881.1																			0				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12						c.(13-15)del		tsukushi, small leucine rich proteoglycan																																				SO:0001651	inframe_deletion	25987					extracellular region		g.chr11:76506673_76506675delCTG	AK075476	CCDS8246.1	11q13.5	2012-12-05	2012-12-05	2006-11-21	ENSG00000182704	ENSG00000182704			28850	protein-coding gene	gene with protein product		608015	"""leucine rich repeat containing 54"", ""tsukushin"", ""tsukushi small leucine rich proteoglycan homolog (Xenopus laevis)"""	LRRC54		11085516, 19710929, 22880013	Standard	NM_001258210		Approved	E2IG4, TSK	uc031qcw.1	Q8WUA8		ENST00000527881.1:c.13_15delCTG	11.37:g.76506682_76506684delCTG	ENSP00000434847:p.Leu9del					TSKU_ENST00000333090.4_In_Frame_Del_p.L9del	p.L9del			Q8WUA8	TSK_HUMAN			2	1039_1041	+	Ovarian(111;0.112)		9					B3KQT7|Q6UXK1|Q9UG10|Q9UJX9	In_Frame_Del	DEL	ENST00000527881.1	37	c.13_15delCTG	CCDS8246.1																																																																																				0.616	TSKU-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382871.1	NM_015516		9	82						9	82	---	---	---	---
OR8D4	338662	broad.mit.edu	37	11	123777441	123777442	+	Frame_Shift_Ins	INS	-	-	T	rs79561639|rs74740497|rs201238608	byFrequency	TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	90ab9245-589c-4c76-b018-77f386ce2b7e	g.chr11:123777441_123777442insT	ENST00000321355.2	+	1	333_334	c.303_304insT	c.(304-306)tttfs	p.F102fs		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGATTCAGCTGTTTTTTTTCTG	0.436													TTTTTTTT|TTTTTTTT|TTTTTTTTT|insertion	116	0.0231629	0.084	0.0058	5008	,	,		21496	0.0		0.001	False		,,,				2504	0.0					ENST00000321355.2																			0				large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(301-306)ctttttfs		olfactory receptor, family 8, subfamily D, member 4				222,0,4042		5,0,212,0,0,1915						-6.5	0.6		dbSNP_131	230	2,2,8250		0,0,2,0,2,4123	no	codingComplex	OR8D4	NM_001005197.1		5,0,214,0,2,6038	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0485,5.2064,1.8054				224,2,12292				SO:0001589	frameshift_variant	338662				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123777441_123777442insT	AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.311dupT	11.37:g.123777449_123777449dupT	ENSP00000325381:p.Phe102fs						p.LF101fs	NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)	1	333_334	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	101					Q6IFE9	Frame_Shift_Ins	INS	ENST00000321355.2	37	c.303_304insT	CCDS31698.1																																																																																				0.436	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197		7	259						7	259	---	---	---	---
