#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
PFKL	5211	broad.mit.edu	37	21	45726635	45726635	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr21:45726635G>A	ENST00000349048.4	+	2	212	c.157G>A	c.(157-159)Gag>Aag	p.E53K	PFKL_ENST00000496824.1_3'UTR|PFKL_ENST00000403390.1_Missense_Mutation_p.E100K	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	53	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		CCTCATCTACGAGGTAAGGCC	0.607																																						ENST00000403390.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(298-300)Gag>Aag		phosphofructokinase, liver							152.0	96.0	115.0					21																	45726635		2200	4298	6498	SO:0001583	missense	5211				fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	g.chr21:45726635G>A		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.157G>A	21.37:g.45726635G>A	ENSP00000269848:p.Glu53Lys					PFKL_ENST00000349048.4_Missense_Mutation_p.E53K|PFKL_ENST00000496824.1_3'UTR	p.E100K			P17858	K6PL_HUMAN		Colorectal(79;0.0811)	3	298	+			53					Q96A64|Q96IH4|Q9BR91	Missense_Mutation	SNP	ENST00000349048.4	37	c.298G>A	CCDS33582.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175013	0.78564	.	.	ENSG00000141959	ENST00000349048;ENST00000381188;ENST00000403390	T;T	0.80393	-1.37;-1.37	4.43	4.43	0.53597	Phosphofructokinase domain (2);	0.000000	0.85682	U	0.000000	D	0.85869	0.5797	M	0.84511	2.7	0.80722	D	1	D;D	0.59767	0.972;0.986	P;P	0.48677	0.586;0.481	D	0.89414	0.3705	10	0.87932	D	0	-35.3844	16.1941	0.82015	0.0:0.0:1.0:0.0	.	53;100	P17858;P17858-2	K6PL_HUMAN;.	K	53;103;100	ENSP00000269848:E53K;ENSP00000384038:E100K	ENSP00000269848:E53K	E	+	1	0	PFKL	44551063	1.000000	0.71417	0.997000	0.53966	0.035000	0.12851	7.456000	0.80751	2.192000	0.70111	0.591000	0.81541	GAG		0.607	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1			19	28	0	0	0	1	0	19	28				
MUC4	4585	broad.mit.edu	37	3	195512148	195512148	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr3:195512148G>C	ENST00000463781.3	-	2	6762	c.6303C>G	c.(6301-6303)gaC>gaG	p.D2101E	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.D2101E	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTGAGGAAGCGTCGGTGACAA	0.567																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(6301-6303)gaC>gaG		mucin 4, cell surface associated																																				SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195512148G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6303C>G	3.37:g.195512148G>C	ENSP00000417498:p.Asp2101Glu					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.D2101E	p.D2101E	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	6762	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	874			EGF-like 2.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.6303C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	G	6.187	0.402702	0.11696	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.36157	1.39;1.27	.	.	.	.	.	.	.	.	T	0.17746	0.0426	N	0.19112	0.55	0.09310	N	1	B	0.23249	0.082	B	0.08055	0.003	T	0.20075	-1.0286	7	.	.	.	.	2.9304	0.05797	0.3911:0.0:0.6089:0.0	.	2101	E7ESK3	.	E	2101	ENSP00000417498:D2101E;ENSP00000420243:D2101E	.	D	-	3	2	MUC4	196996543	0.000000	0.05858	0.015000	0.15790	0.084000	0.17831	-0.129000	0.10515	0.488000	0.27723	0.064000	0.15345	GAC		0.567	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	12	0	0	0	1	0	3	12				
OPCML	4978	broad.mit.edu	37	11	132527130	132527130	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr11:132527130T>C	ENST00000331898.7	-	2	830	c.252A>G	c.(250-252)atA>atG	p.I84M	OPCML_ENST00000524381.1_Missense_Mutation_p.I77M|OPCML_ENST00000541867.1_Missense_Mutation_p.I84M|OPCML_ENST00000374778.4_Missense_Mutation_p.I43M|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	84	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CACGAGGGTCTATGGACCACT	0.542																																						ENST00000331898.7																			0				endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47						c.(250-252)atA>atG		opioid binding protein/cell adhesion molecule-like							219.0	160.0	180.0					11																	132527130		2201	4297	6498	SO:0001583	missense	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132527130T>C	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.252A>G	11.37:g.132527130T>C	ENSP00000330862:p.Ile84Met					OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000374778.4_Missense_Mutation_p.I43M|OPCML_ENST00000524381.1_Missense_Mutation_p.I77M|OPCML_ENST00000541867.1_Missense_Mutation_p.I84M	p.I84M	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	2	830	-	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)	84			Ig-like C2-type 1.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	c.252A>G	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.195722	0.78902	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000541867	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	5.92	5.92	0.95590	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.061581	0.64402	D	0.000002	T	0.38772	0.1053	L	0.47716	1.5	0.49915	D	0.999837	P;P;P;P	0.48294	0.454;0.908;0.454;0.454	P;P;P;P	0.48488	0.579;0.579;0.492;0.492	T	0.17018	-1.0383	10	0.66056	D	0.02	-16.994	16.3631	0.83280	0.0:0.0:0.0:1.0	.	84;77;84;84	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	M	84;77;43;84	ENSP00000330862:I84M;ENSP00000434750:I77M;ENSP00000363910:I43M;ENSP00000445496:I84M	ENSP00000330862:I84M	I	-	3	3	OPCML	132032340	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.980000	0.63812	2.266000	0.75297	0.533000	0.62120	ATA		0.542	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		23	166	0	0	0	1	0	23	166				
USP54	159195	broad.mit.edu	37	10	75331188	75331188	+	Silent	SNP	G	G	A			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr10:75331188G>A	ENST00000339859.4	-	3	331	c.231C>T	c.(229-231)tgC>tgT	p.C77C	USP54_ENST00000428547.1_Silent_p.C77C|USP54_ENST00000408019.1_Silent_p.C77C|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000319786.7_Silent_p.C77C			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	77	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					CCTTGAGAGCGCAAAAGATGC	0.433																																					Colon(195;880 2046 8854 25025 38456)	ENST00000339859.4																			0				breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30						c.(229-231)tgC>tgT		ubiquitin specific peptidase 54							120.0	108.0	112.0					10																	75331188		1901	4133	6034	SO:0001819	synonymous_variant	159195				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	g.chr10:75331188G>A	AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.231C>T	10.37:g.75331188G>A						USP54_ENST00000319786.7_Silent_p.C77C|USP54_ENST00000428547.1_Silent_p.C77C|USP54_ENST00000408019.1_Silent_p.C77C|USP54_ENST00000394811.2_5'UTR	p.C77C			Q70EL1	UBP54_HUMAN			3	331	-	Prostate(51;0.0112)		77					A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Silent	SNP	ENST00000339859.4	37	c.231C>T	CCDS7329.2																																																																																				0.433	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		4	147	0	0	0	1	0	4	147				
RBAK-RBAKDN	100533952	broad.mit.edu	37	7	5112572	5112572	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr7:5112572C>T	ENST00000407184.1	+	8	721	c.455C>T	c.(454-456)aCg>aTg	p.T152M	RBAKDN_ENST00000498308.1_lincRNA|RBAK-RBAKDN_ENST00000396904.2_3'UTR					RBAK-RBAKDN readthrough																		CTGGCGGAGACGGAGAGCTGC	0.662																																						ENST00000407184.1																			0				NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10						c.(454-456)aCg>aTg		RB-associated KRAB zinc finger							32.0	43.0	40.0					7																	5112572		2202	4299	6501	SO:0001583	missense	57786				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr7:5112572C>T		CCDS56463.1	7p22.1	2013-05-20				ENSG00000272968			42971	other	readthrough							Standard	NM_001204513		Approved				OTTHUMG00000186010	ENST00000407184.1:c.455C>T	7.37:g.5112572C>T	ENSP00000385560:p.Thr152Met					RBAK_ENST00000396904.2_3'UTR|RBAK_ENST00000498308.1_3'UTR	p.T152M			Q9NYW8	RBAK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)	8	721	+		Ovarian(82;0.0175)	0						Missense_Mutation	SNP	ENST00000407184.1	37	c.455C>T		.	.	.	.	.	.	.	.	.	.	C	9.939	1.217064	0.22373	.	.	ENSG00000146587	ENST00000407184	T	0.01076	5.37	3.3	1.41	0.22369	.	.	.	.	.	T	0.01387	0.0045	.	.	.	.	.	.	D	0.55172	0.97	P	0.44732	0.459	T	0.48258	-0.9051	7	0.87932	D	0	.	3.1777	0.06573	0.0:0.5021:0.2294:0.2685	.	20	A6NC62	YG007_HUMAN	M	152	ENSP00000385560:T152M	ENSP00000385560:T152M	T	+	2	0	RBAK	5079098	0.001000	0.12720	0.082000	0.20525	0.060000	0.15804	-0.330000	0.07925	0.668000	0.31126	0.462000	0.41574	ACG		0.662	RBAK-RBAKDN-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000472007.1			5	149	0	0	0	1	0	5	149				
GSTM2	2946	broad.mit.edu	37	1	110210764	110210764	+	Silent	SNP	C	C	T			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr1:110210764C>T	ENST00000241337.4	+	1	77	c.27C>T	c.(25-27)aaC>aaT	p.N9N	GSTM2_ENST00000369831.2_Silent_p.N9N|GSTM2_ENST00000464206.1_3'UTR|GSTM2_ENST00000460717.3_Silent_p.N9N|GSTM2_ENST00000369827.3_Silent_p.N7N|GSTM2_ENST00000369829.2_Silent_p.N9N|GSTM2_ENST00000414179.2_5'UTR|GSTM2_ENST00000442650.1_Silent_p.N9N	NM_000848.3	NP_000839.1	P28161	GSTM2_HUMAN	glutathione S-transferase mu 2 (muscle)	9	GST N-terminal.			N -> D (in Ref. 3; AAV38750). {ECO:0000305}.	cellular detoxification of nitrogen compound (GO:0070458)|cellular response to caffeine (GO:0071313)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|nitrobenzene metabolic process (GO:0018916)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|relaxation of cardiac muscle (GO:0055119)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	GGTACTGGAACATCCGCGGGG	0.677																																						ENST00000369831.2																			0				kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11						c.(25-27)aaC>aaT		glutathione S-transferase mu 2 (muscle)							47.0	48.0	48.0					1																	110210764		2203	4300	6503	SO:0001819	synonymous_variant	2946							g.chr1:110210764C>T	M63509	CCDS808.1, CCDS44192.1	1p13.3	2012-06-21	2008-11-26		ENSG00000213366	ENSG00000213366	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4634	protein-coding gene	gene with protein product		138380	"""glutathione S-transferase M2 (muscle)"""			2034681, 2345169	Standard	NM_000848		Approved	GST4		P28161	OTTHUMG00000011638	ENST00000241337.4:c.27C>T	1.37:g.110210764C>T						GSTM2_ENST00000464206.1_3'UTR|GSTM2_ENST00000442650.1_Silent_p.N9N|GSTM2_ENST00000414179.2_5'UTR|GSTM2_ENST00000369829.2_Silent_p.N9N|GSTM2_ENST00000460717.3_Silent_p.N9N|GSTM2_ENST00000241337.4_Silent_p.N9N|GSTM2_ENST00000369827.3_Silent_p.N7N	p.N9N						all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	1	121	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)						B4DRY4|E9PEM9|Q2M318|Q5TZY5|Q8WWE1	Silent	SNP	ENST00000241337.4	37	c.27C>T	CCDS808.1																																																																																				0.677	GSTM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032167.2	NM_000848		29	29	0	0	0	1	0	29	29				
GNB3	2784	broad.mit.edu	37	12	6950780	6950780	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr12:6950780C>G	ENST00000229264.3	+	4	493	c.88C>G	c.(88-90)Ctg>Gtg	p.L30V	LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000251761.8_RNA|GNB3_ENST00000435982.2_Missense_Mutation_p.L30V|LEPREL2_ENST00000606935.1_RNA	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	30					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						TGACGTTACTCTGGCAGAGGT	0.642																																						ENST00000229264.3																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						c.(88-90)Ctg>Gtg		guanine nucleotide binding protein (G protein), beta polypeptide 3							49.0	43.0	45.0					12																	6950780		2203	4300	6503	SO:0001583	missense	2784				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr12:6950780C>G		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.88C>G	12.37:g.6950780C>G	ENSP00000229264:p.Leu30Val					GNB3_ENST00000435982.2_Missense_Mutation_p.L30V	p.L30V	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN			4	493	+			30					Q96B71|Q9BQC0	Missense_Mutation	SNP	ENST00000229264.3	37	c.88C>G	CCDS8564.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830696	0.50845	.	.	ENSG00000111664	ENST00000229264;ENST00000541257;ENST00000541978;ENST00000435982;ENST00000537035	T;T;T;T	0.01430	4.9;4.9;4.9;4.9	4.22	3.28	0.37604	WD40 repeat-like-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.02193	0.0068	L	0.60904	1.88	0.80722	D	1	B;B	0.17465	0.022;0.022	B;B	0.21151	0.033;0.033	T	0.50533	-0.8817	10	0.35671	T	0.21	-10.2788	10.8318	0.46665	0.0:0.9001:0.0:0.0999	.	30;30	E9PCP0;P16520	.;GBB3_HUMAN	V	30	ENSP00000229264:L30V;ENSP00000442002:L30V;ENSP00000414734:L30V;ENSP00000445967:L30V	ENSP00000229264:L30V	L	+	1	2	GNB3	6821041	0.985000	0.35326	0.971000	0.41717	0.938000	0.57974	2.695000	0.47043	0.831000	0.34780	0.561000	0.74099	CTG		0.642	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075		3	31	0	0	0	1	0	3	31				
AMT	275	broad.mit.edu	37	3	49459637	49459637	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr3:49459637G>A	ENST00000273588.3	-	2	460	c.158C>T	c.(157-159)gCg>gTg	p.A53V	AMT_ENST00000538581.1_Intron|AMT_ENST00000476226.1_5'UTR|AMT_ENST00000546031.1_Intron|NICN1_ENST00000422593.1_5'Flank|AMT_ENST00000458307.2_Missense_Mutation_p.A53V|NICN1-AS1_ENST00000424915.1_RNA|AMT_ENST00000395338.2_Missense_Mutation_p.A53V	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN	aminomethyltransferase	53					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|transaminase activity (GO:0008483)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Tetrahydrofolic acid(DB00116)	ACTCCAACCCGCAAACGCCAC	0.627																																						ENST00000273588.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6						c.(157-159)gCg>gTg		aminomethyltransferase	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						111.0	116.0	114.0					3																	49459637		2203	4300	6503	SO:0001583	missense	275				glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity	g.chr3:49459637G>A	D13811	CCDS2797.1, CCDS54583.1, CCDS54584.1, CCDS54585.1	3p21.2-p21.1	2014-09-17	2006-05-22		ENSG00000145020	ENSG00000145020	2.1.2.10		473	protein-coding gene	gene with protein product	"""glycine cleavage system protein T"""	238310	"""aminomethyltransferase (glycine cleavage system protein T)"""			1993704, 8188235	Standard	NM_000481		Approved	GCST, NKH	uc003cww.3	P48728	OTTHUMG00000156847	ENST00000273588.3:c.158C>T	3.37:g.49459637G>A	ENSP00000273588:p.Ala53Val					AMT_ENST00000546031.1_Intron|AMT_ENST00000458307.2_Missense_Mutation_p.A53V|AMT_ENST00000395338.2_Missense_Mutation_p.A53V|AMT_ENST00000476226.1_5'UTR|AMT_ENST00000538581.1_Intron	p.A53V	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	2	460	-			53					A8K3I5|B4DE61|B4DJQ0|E9PBG1|Q96IG6	Missense_Mutation	SNP	ENST00000273588.3	37	c.158C>T	CCDS2797.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.366814	0.61513	.	.	ENSG00000145020	ENST00000395338;ENST00000458307;ENST00000273588	D;D;D	0.84370	-1.84;-1.84;-1.84	4.55	3.66	0.41972	.	0.000000	0.85682	D	0.000000	D	0.91794	0.7404	M	0.87328	2.875	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;P;P;P	0.64877	0.93;0.877;0.809;0.694	D	0.92648	0.6130	10	0.87932	D	0	-24.7896	11.9071	0.52719	0.0:0.0:0.8242:0.1758	.	53;5;53;53	B4DJQ0;B4DEE9;E9PBG1;P48728	.;.;.;GCST_HUMAN	V	53	ENSP00000378747:A53V;ENSP00000415619:A53V;ENSP00000273588:A53V	ENSP00000273588:A53V	A	-	2	0	AMT	49434641	1.000000	0.71417	0.005000	0.12908	0.023000	0.10783	9.198000	0.94994	1.242000	0.43836	-0.181000	0.13052	GCG		0.627	AMT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346216.2	NM_000481		5	302	0	0	0	1	0	5	302				
FOXA2	3170	broad.mit.edu	37	20	22563390	22563390	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr20:22563390C>T	ENST00000377115.4	-	3	653	c.472G>A	c.(472-474)Gca>Aca	p.A158T	FOXA2_ENST00000419308.2_Missense_Mutation_p.A164T	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	158					adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					GGCGGCTTTGCGTGCGTGTAG	0.627																																						ENST00000419308.2																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22						c.(472-474)Gca>Aca		forkhead box A2							99.0	85.0	90.0					20																	22563390		2203	4300	6503	SO:0001583	missense	3170				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:22563390C>T	AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"""Forkhead boxes"""	5022	protein-coding gene	gene with protein product		600288	"""hepatocyte nuclear factor 3, beta"""	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.472G>A	20.37:g.22563390C>T	ENSP00000366319:p.Ala158Thr					FOXA2_ENST00000377115.4_Missense_Mutation_p.A158T|FOXA2_ENST00000319993.4_Missense_Mutation_p.A164T	p.A158T	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN			2	674	-	Lung NSC(19;0.188)		158					Q8WUW4|Q96DF7	Missense_Mutation	SNP	ENST00000377115.4	37	c.472G>A	CCDS13147.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017938	0.75275	.	.	ENSG00000125798	ENST00000377115;ENST00000419308;ENST00000319993;ENST00000444877	T;T;T	0.71103	-0.54;-0.54;-0.54	4.81	4.81	0.61882	Fork-head N-terminal (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (1);	0.000000	0.64402	U	0.000014	T	0.73869	0.3642	M	0.82323	2.585	0.80722	D	1	B;P	0.34699	0.249;0.464	B;B	0.32090	0.046;0.14	T	0.79274	-0.1871	10	0.87932	D	0	.	17.4691	0.87641	0.0:1.0:0.0:0.0	.	158;164	Q9Y261;B0ZTD4	FOXA2_HUMAN;.	T	158;158;164;44	ENSP00000366319:A158T;ENSP00000400341:A158T;ENSP00000315955:A164T	ENSP00000315955:A164T	A	-	1	0	FOXA2	22511390	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.697000	0.84279	2.210000	0.71456	0.574000	0.79327	GCA		0.627	FOXA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078289.1			4	209	0	0	0	1	0	4	209				
NOL6	65083	broad.mit.edu	37	9	33464075	33464075	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr9:33464075C>T	ENST00000379471.2	-	22	2951	c.2864G>A	c.(2863-2865)cGc>cAc	p.R955H	NOL6_ENST00000455041.2_Missense_Mutation_p.R903H|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	955					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R955H(1)		endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		AGAGTTTTTGCGGTCTTGGGG	0.567																																						ENST00000379471.2																			1	Substitution - Missense(1)	p.R955H(1)	lung(1)	endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27						c.(2863-2865)cGc>cAc		nucleolar protein 6 (RNA-associated)							148.0	131.0	137.0					9																	33464075		2203	4300	6503	SO:0001583	missense	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33464075C>T	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.2864G>A	9.37:g.33464075C>T	ENSP00000368784:p.Arg955His					NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Missense_Mutation_p.R903H	p.R955H			Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	22	2951	-			955					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	ENST00000379471.2	37	c.2864G>A		.	.	.	.	.	.	.	.	.	.	C	11.60	1.687040	0.29962	.	.	ENSG00000165271	ENST00000379470;ENST00000297990;ENST00000379471;ENST00000541373;ENST00000325914;ENST00000455041	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.65	4.76	0.60689	.	0.144743	0.56097	D	0.000022	T	0.35393	0.0930	L	0.58101	1.795	0.39089	D	0.961056	B;B;B;B	0.25486	0.127;0.044;0.104;0.054	B;B;B;B	0.23018	0.028;0.017;0.023;0.043	T	0.24977	-1.0145	10	0.29301	T	0.29	.	7.4292	0.27118	0.0:0.7211:0.0:0.2789	.	903;952;955;955	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4	.;.;.;NOL6_HUMAN	H	9;955;955;511;955;903	ENSP00000368783:R9H;ENSP00000297990:R955H;ENSP00000368784:R955H;ENSP00000395915:R903H	ENSP00000297990:R955H	R	-	2	0	NOL6	33454075	1.000000	0.71417	0.982000	0.44146	0.019000	0.09904	3.448000	0.52943	1.534000	0.49203	0.655000	0.94253	CGC		0.567	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917		5	239	0	0	0	1	0	5	239				
PDGFC	56034	broad.mit.edu	37	4	157771503	157771503	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr4:157771503T>C	ENST00000502773.1	-	2	674	c.184A>G	c.(184-186)Agg>Ggg	p.R62G	PDGFC_ENST00000541126.1_Intron|PDGFC_ENST00000422544.2_Missense_Mutation_p.R62G|PDGFC_ENST00000542208.1_5'Flank	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	62	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cellular response to amino acid stimulus (GO:0071230)|central nervous system development (GO:0007417)|organ morphogenesis (GO:0009887)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TGAGGAAACCTTGGGCTGTGA	0.358																																						ENST00000502773.1																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(184-186)Agg>Ggg		platelet derived growth factor C							92.0	85.0	87.0					4																	157771503		2203	4300	6503	SO:0001583	missense	56034				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity	g.chr4:157771503T>C	AF091434	CCDS3795.1	4q32	2008-02-05			ENSG00000145431	ENSG00000145431			8801	protein-coding gene	gene with protein product		608452				10858496, 10858548	Standard	NM_016205		Approved	SCDGF, fallotein	uc003iph.2	Q9NRA1	OTTHUMG00000161803	ENST00000502773.1:c.184A>G	4.37:g.157771503T>C	ENSP00000422464:p.Arg62Gly					PDGFC_ENST00000541126.1_Intron|PDGFC_ENST00000422544.2_Missense_Mutation_p.R62G	p.R62G	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)	2	674	-	all_hematologic(180;0.24)	Renal(120;0.0458)	62			CUB.		B4DU34|B9EGR8|Q4W5M9|Q9UL22	Missense_Mutation	SNP	ENST00000502773.1	37	c.184A>G	CCDS3795.1	.	.	.	.	.	.	.	.	.	.	T	4.251	0.045588	0.08196	.	.	ENSG00000145431	ENST00000502773;ENST00000422544;ENST00000543489	T;T	0.29655	1.56;1.56	6.04	0.426	0.16479	CUB (5);	0.496456	0.23536	N	0.047129	T	0.09335	0.0230	N	0.02286	-0.61	0.09310	N	0.99999	B	0.02656	0.0	B	0.04013	0.001	T	0.37361	-0.9709	10	0.06757	T	0.87	-4.4557	8.8208	0.35025	0.0:0.0669:0.4392:0.4939	.	62	Q9NRA1	PDGFC_HUMAN	G	62	ENSP00000422464:R62G;ENSP00000410048:R62G	ENSP00000410048:R62G	R	-	1	2	PDGFC	157990953	0.788000	0.28762	0.004000	0.12327	0.982000	0.71751	1.376000	0.34306	-0.138000	0.11434	0.459000	0.35465	AGG		0.358	PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366123.1			49	57	0	0	0	1	0	49	57				
NHLRC2	374354	broad.mit.edu	37	10	115664616	115664616	+	Missense_Mutation	SNP	C	C	T	rs370450558	byFrequency	TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr10:115664616C>T	ENST00000369301.3	+	10	1957	c.1745C>T	c.(1744-1746)cCg>cTg	p.P582L		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	582										breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		GTAGATGGCCCGTTCCTAGTA	0.408													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17460	0.0		0.0	False		,,,				2504	0.0					ENST00000369301.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(1744-1746)cCg>cTg		NHL repeat containing 2		C	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	79.0	73.0	75.0		1745	4.6	0.8	10		75	0,8600		0,0,4300	no	missense	NHLRC2	NM_198514.3	98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	582/727	115664616	1,13005	2203	4300	6503	SO:0001583	missense	374354				cell redox homeostasis			g.chr10:115664616C>T	AK090631	CCDS7585.1	10q26.11	2006-03-31			ENSG00000196865	ENSG00000196865			24731	protein-coding gene	gene with protein product						12477932	Standard	NM_198514		Approved	FLJ25621, FLJ20147, FLJ33312, MGC45492, DKFZp779F115	uc001lax.2	Q8NBF2	OTTHUMG00000019078	ENST00000369301.3:c.1745C>T	10.37:g.115664616C>T	ENSP00000358307:p.Pro582Leu						p.P582L	NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN		Epithelial(162;0.017)|all cancers(201;0.0187)	10	1957	+			582					Q8N1H1|Q8N5A6	Missense_Mutation	SNP	ENST00000369301.3	37	c.1745C>T	CCDS7585.1	.	.	.	.	.	.	.	.	.	.	C	7.165	0.586503	0.13749	2.27E-4	0.0	ENSG00000196865	ENST00000369301	T	0.46063	0.88	5.55	4.59	0.56863	.	0.259451	0.38326	N	0.001723	T	0.20780	0.0500	N	0.19112	0.55	0.40459	D	0.980226	B	0.32620	0.378	B	0.17098	0.017	T	0.08027	-1.0742	10	0.23302	T	0.38	-7.3115	6.9842	0.24719	0.0:0.5953:0.3116:0.0931	.	582	Q8NBF2	NHLC2_HUMAN	L	582	ENSP00000358307:P582L	ENSP00000358307:P582L	P	+	2	0	NHLRC2	115654606	0.028000	0.19301	0.758000	0.31321	0.048000	0.14542	1.238000	0.32707	2.600000	0.87896	0.650000	0.86243	CCG		0.408	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050446.1	NM_198514		29	82	0	0	0	1	0	29	82				
IGHV1OR15-9	390531	broad.mit.edu	37	15	20169960	20169960	+	RNA	SNP	G	G	A			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr15:20169960G>A	ENST00000338912.5	-	0	311									immunoglobulin heavy variable 1/OR15-9 (non-functional)																		CAGATCTCAGGCTGCTTAGCT	0.527																																						ENST00000338912.5																			0																				217.0	211.0	213.0					15																	20169960		2112	4224	6336			0							g.chr15:20169960G>A	L25542		15q11.1	2013-10-18	2008-08-22		ENSG00000188403	ENSG00000188403		"""Immunoglobulins / IGH orphons"""	5569	other	immunoglobulin gene			"""immunoglobulin heavy variable 1/OR15-9"", ""V-set and immunoglobulin domain containing 7"""	VSIG7		7959766	Standard	NG_032069		Approved	IGHV1/OR15-9, IGHV1OR159			OTTHUMG00000171652		15.37:g.20169960G>A														0	311	-									RNA	SNP	ENST00000338912.5	37																																																																																						0.527	IGHV1OR15-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000414646.4			5	509	0	0	0	1	0	5	509				
BDP1	55814	broad.mit.edu	37	5	70819927	70819927	+	Missense_Mutation	SNP	G	G	A	rs369782014		TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr5:70819927G>A	ENST00000358731.4	+	25	5812	c.5549G>A	c.(5548-5550)cGg>cAg	p.R1850Q	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1850					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAACGAGTTCGGGGTAAGACC	0.453																																						ENST00000358731.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(5548-5550)cGg>cAg		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB		G	GLN/ARG	1,3839		0,1,1919	86.0	89.0	88.0		5549	5.5	0.8	5		88	1,8233		0,1,4116	no	missense	BDP1	NM_018429.2	43	0,2,6035	AA,AG,GG		0.0121,0.026,0.0166	probably-damaging	1850/2625	70819927	2,12072	1920	4117	6037	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70819927G>A	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.5549G>A	5.37:g.70819927G>A	ENSP00000351575:p.Arg1850Gln					BDP1_ENST00000380675.2_5'UTR	p.R1850Q	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	25	5812	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	1850					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.5549G>A	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659837	0.88154	2.6E-4	1.21E-4	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.33865	1.39	5.47	5.47	0.80525	.	0.000000	0.49916	D	0.000130	T	0.56140	0.1965	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.972;0.996	T	0.51498	-0.8698	10	0.40728	T	0.16	.	14.033	0.64627	0.0:0.0:0.8483:0.1517	.	1850;1850	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	Q	1850;1430	ENSP00000351575:R1850Q	ENSP00000351575:R1850Q	R	+	2	0	BDP1	70855683	0.983000	0.35010	0.848000	0.33437	0.983000	0.72400	2.878000	0.48515	2.723000	0.93209	0.655000	0.94253	CGG		0.453	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		4	163	0	0	0	1	0	4	163				
SCRT1	83482	broad.mit.edu	37	8	145556985	145556985	+	Silent	SNP	G	G	A			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr8:145556985G>A	ENST00000332135.4	-	2	1020	c.909C>T	c.(907-909)caC>caT	p.H303H		NM_031309.4	NP_112599.2	Q9BWW7	SCRT1_HUMAN	scratch family zinc finger 1	303					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron migration (GO:2001222)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|upper_aerodigestive_tract(1)	3	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			TGCACTGGAAGTGCTTGAAGG	0.652																																						ENST00000332135.4																			0				breast(2)|upper_aerodigestive_tract(1)	3						c.(907-909)caC>caT		scratch family zinc finger 1							25.0	26.0	26.0					8																	145556985		2203	4296	6499	SO:0001819	synonymous_variant	83482					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:145556985G>A	BC014675	CCDS6421.1	8q24.3	2013-10-09	2013-10-09		ENSG00000170616	ENSG00000261678		"""Zinc fingers, C2H2-type"""	15950	protein-coding gene	gene with protein product		605858	"""scratch (drosophila homolog) 1, zinc finger protein"", ""scratch homolog 1, zinc finger protein (Drosophila)"""			11274425	Standard	NM_031309		Approved	DKFZp547F072, ZNF898	uc003zbw.1	Q9BWW7	OTTHUMG00000165229	ENST00000332135.4:c.909C>T	8.37:g.145556985G>A							p.H303H	NM_031309.4	NP_112599.1	Q9BWW7	SCRT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		2	1020	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		303					A8MX66|Q96C52	Silent	SNP	ENST00000332135.4	37	c.909C>T	CCDS6421.1																																																																																				0.652	SCRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382800.2	NM_031309		12	24	0	0	0	1	0	12	24				
ADCY10	55811	broad.mit.edu	37	1	167849749	167849749	+	Silent	SNP	G	G	A			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr1:167849749G>A	ENST00000367851.4	-	10	1303	c.1119C>T	c.(1117-1119)tgC>tgT	p.C373C	ADCY10_ENST00000545172.1_Silent_p.C220C|ADCY10_ENST00000367848.1_Silent_p.C281C	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	373	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GGACTTGAGAGCAGAAGTCAA	0.517																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(841-843)tgC>tgT		adenylate cyclase 10 (soluble)							112.0	109.0	110.0					1																	167849749		2203	4300	6503	SO:0001819	synonymous_variant	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167849749G>A	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.1119C>T	1.37:g.167849749G>A						ADCY10_ENST00000545172.1_Silent_p.C220C|ADCY10_ENST00000367851.4_Silent_p.C373C	p.C281C			Q96PN6	ADCYA_HUMAN			10	1340	-			373					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Silent	SNP	ENST00000367851.4	37	c.843C>T	CCDS1265.1																																																																																				0.517	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		9	126	0	0	0	1	0	9	126				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			56	100	0	0	0	1	0	56	100				
TBX4	9496	broad.mit.edu	37	17	59560289	59560289	+	Silent	SNP	C	C	T			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr17:59560289C>T	ENST00000240335.1	+	8	1095	c.1050C>T	c.(1048-1050)tgC>tgT	p.C350C	TBX4_ENST00000393853.4_Silent_p.C351C|TBX4_ENST00000589449.1_3'UTR	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	350					angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						ACTTACCTTGCAAGCGATCCT	0.567																																						ENST00000393853.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1051-1053)tgC>tgT		T-box 4							56.0	49.0	52.0					17																	59560289		2203	4300	6503	SO:0001819	synonymous_variant	9496				leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:59560289C>T	AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075		"""T-boxes"""	11603	protein-coding gene	gene with protein product		601719				10945475	Standard	NM_018488		Approved		uc002izi.3	P57082		ENST00000240335.1:c.1050C>T	17.37:g.59560289C>T						TBX4_ENST00000240335.1_Silent_p.C350C|TBX4_ENST00000589449.1_3'UTR	p.C351C			P57082	TBX4_HUMAN			9	1216	+			350					A5PKU7|B2RMT1|B7ZLV3	Silent	SNP	ENST00000240335.1	37	c.1053C>T	CCDS11629.1																																																																																				0.567	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449649.1	NM_018488		16	25	0	0	0	1	0	16	25				
TGM3	7053	broad.mit.edu	37	20	2297883	2297883	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr20:2297883T>C	ENST00000381458.5	+	6	902	c.839T>C	c.(838-840)cTc>cCc	p.L280P	TGM3_ENST00000463090.1_3'UTR	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	280					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GCTGGGACCCTCAACACAGGT	0.577																																						ENST00000381458.5																			0				breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39						c.(838-840)cTc>cCc		transglutaminase 3	L-Glutamine(DB00130)						93.0	86.0	88.0					20																	2297883		2203	4300	6503	SO:0001583	missense	7053				cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2297883T>C	L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.839T>C	20.37:g.2297883T>C	ENSP00000370867:p.Leu280Pro					TGM3_ENST00000463090.1_3'UTR	p.L280P	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN			6	902	+			280					A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	ENST00000381458.5	37	c.839T>C	CCDS33435.1	.	.	.	.	.	.	.	.	.	.	T	17.17	3.321414	0.60634	.	.	ENSG00000125780	ENST00000381458;ENST00000420960	D	0.90133	-2.62	5.07	5.07	0.68467	Transglutaminase, conserved site (1);Transglutaminase-like (2);	0.191941	0.43919	D	0.000515	D	0.95465	0.8527	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95922	0.8931	10	0.72032	D	0.01	.	12.8445	0.57821	0.0:0.0:0.0:1.0	.	280	Q08188	TGM3_HUMAN	P	280	ENSP00000370867:L280P	ENSP00000370867:L280P	L	+	2	0	TGM3	2245883	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	3.530000	0.53539	2.123000	0.65237	0.533000	0.62120	CTC		0.577	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245		4	209	0	0	0	1	0	4	209				
PLCL1	5334	broad.mit.edu	37	2	198950470	198950470	+	Silent	SNP	G	G	A	rs142477843		TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr2:198950470G>A	ENST00000428675.1	+	2	2627	c.2229G>A	c.(2227-2229)ggG>ggA	p.G743G	PLCL1_ENST00000437704.2_Silent_p.G645G	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	743	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GTGCCAAAGGGGATGTCATAG	0.433																																						ENST00000428675.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(2227-2229)ggG>ggA		phospholipase C-like 1	Quinacrine(DB01103)	G		0,4406		0,0,2203	66.0	66.0	66.0		2229	3.5	1.0	2	dbSNP_134	66	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PLCL1	NM_006226.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		743/1096	198950470	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950470G>A	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2229G>A	2.37:g.198950470G>A						PLCL1_ENST00000437704.2_Silent_p.G645G	p.G743G	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			2	2627	+			743			C2.		Q3MJ90|Q53SD3|Q7Z3S3	Silent	SNP	ENST00000428675.1	37	c.2229G>A	CCDS2326.2																																																																																				0.433	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		14	165	0	0	0	1	0	14	165				
BCAR1	9564	broad.mit.edu	37	16	75276756	75276756	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr16:75276756G>A	ENST00000162330.5	-	2	371	c.245C>T	c.(244-246)cCg>cTg	p.P82L	BCAR1_ENST00000542031.2_Missense_Mutation_p.P80L|BCAR1_ENST00000535626.2_Intron|BCAR1_ENST00000420641.3_Missense_Mutation_p.P100L|BCAR1_ENST00000538440.2_Missense_Mutation_p.P82L|BCAR1_ENST00000393422.2_Missense_Mutation_p.P100L|BCAR1_ENST00000393420.6_Missense_Mutation_p.P82L|BCAR1_ENST00000546196.1_Missense_Mutation_p.P53L|BCAR1_ENST00000418647.3_Missense_Mutation_p.P128L	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	82	Pro-rich.				actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGGCTGGGCCGGGGTGGCGGG	0.687																																						ENST00000546196.1																			0				breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35						c.(157-159)cCg>cTg		breast cancer anti-estrogen resistance 1							19.0	23.0	21.0					16																	75276756		2196	4294	6490	SO:0001583	missense	9564				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	g.chr16:75276756G>A	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.245C>T	16.37:g.75276756G>A	ENSP00000162330:p.Pro82Leu					BCAR1_ENST00000162330.5_Missense_Mutation_p.P82L|BCAR1_ENST00000420641.3_Missense_Mutation_p.P100L|BCAR1_ENST00000535626.2_Intron|BCAR1_ENST00000418647.3_Missense_Mutation_p.P128L|BCAR1_ENST00000542031.2_Missense_Mutation_p.P80L|BCAR1_ENST00000393420.6_Missense_Mutation_p.P82L|BCAR1_ENST00000393422.2_Missense_Mutation_p.P100L|BCAR1_ENST00000538440.2_Missense_Mutation_p.P82L	p.P53L			P56945	BCAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	2	1810	-			82			SH3.		B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP	ENST00000162330.5	37	c.158C>T	CCDS10915.1	.	.	.	.	.	.	.	.	.	.	G	6.536	0.467210	0.12402	.	.	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000393420;ENST00000542031;ENST00000546196	T;T;T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4	5.09	4.13	0.48395	Src homology-3 domain (1);	0.833933	0.10177	N	0.706325	T	0.45915	0.1366	L	0.42245	1.32	0.19300	N	0.999976	B;B;B;B;B;B;B	0.09022	0.0;0.002;0.0;0.001;0.0;0.001;0.001	B;B;B;B;B;B;B	0.06405	0.0;0.001;0.0;0.0;0.001;0.002;0.0	T	0.33675	-0.9859	10	0.38643	T	0.18	-0.1019	10.9277	0.47199	0.0886:0.0:0.9114:0.0	.	100;128;80;82;100;82;82	B4DIW5;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945	.;.;.;.;.;.;BCAR1_HUMAN	L	82;100;100;82;128;82;80;53	ENSP00000162330:P82L;ENSP00000377074:P100L;ENSP00000392708:P100L;ENSP00000443841:P82L;ENSP00000391669:P128L;ENSP00000377072:P82L;ENSP00000440415:P80L;ENSP00000442161:P53L	ENSP00000162330:P82L	P	-	2	0	BCAR1	73834257	0.032000	0.19561	0.002000	0.10522	0.003000	0.03518	1.812000	0.38952	1.289000	0.44618	0.655000	0.94253	CCG		0.687	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		4	91	0	0	0	1	0	4	91				
COL4A1	1282	broad.mit.edu	37	13	110895028	110895028	+	Silent	SNP	T	T	C			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr13:110895028T>C	ENST00000375820.4	-	2	259	c.138A>G	c.(136-138)ggA>ggG	p.G46G	COL4A1_ENST00000543140.1_Silent_p.G46G	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	46					axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TCACCTTTTGTCCCTTCACTC	0.403																																						ENST00000375820.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(136-138)ggA>ggG		collagen, type IV, alpha 1							280.0	284.0	283.0					13																	110895028		2203	4300	6503	SO:0001819	synonymous_variant	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110895028T>C	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.138A>G	13.37:g.110895028T>C						COL4A1_ENST00000543140.1_Silent_p.G46G	p.G46G	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		2	259	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	46					A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Silent	SNP	ENST00000375820.4	37	c.138A>G	CCDS9511.1																																																																																				0.403	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			195	304	0	0	0	1	0	195	304				
PHOX2B	8929	broad.mit.edu	37	4	41750611	41750611	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr4:41750611T>C	ENST00000226382.2	-	1	376	c.17A>G	c.(16-18)tAt>tGt	p.Y6C	RP11-227F19.2_ENST00000510602.1_lincRNA|RP11-227F19.1_ENST00000508038.1_RNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	6					autonomic nervous system development (GO:0048483)|brainstem development (GO:0003360)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dopaminergic neuron differentiation (GO:0071542)|efferent axon development in a lateral line nerve (GO:0048894)|enteric nervous system development (GO:0048484)|glial cell differentiation (GO:0010001)|hindbrain tangential cell migration (GO:0021934)|inner ear development (GO:0048839)|medullary reticular formation development (GO:0021723)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron differentiation (GO:0003357)|parasympathetic nervous system development (GO:0048486)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression (GO:0010468)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory system development (GO:0060541)|retrotrapezoid nucleus neuron differentiation (GO:0061452)|skeletal muscle cell differentiation (GO:0035914)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						GAGGTAAGAATATTCCATTTT	0.483			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000226382.2			yes	Rec	yes	familial neuroblastoma	4	4p12	8929	"""Mis, F"""	paired-like homeobox 2b	yes	congenital central hypoventilation syndrome	O		neuroblastoma	neuroblastoma		0				autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						c.(16-18)tAt>tGt		paired-like homeobox 2b							32.0	33.0	33.0					4																	41750611		2203	4300	6503	SO:0001583	missense	8929	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr4:41750611T>C	D82344	CCDS3463.1	4p13	2014-09-17	2003-02-10	2003-02-14	ENSG00000109132	ENSG00000109132		"""Homeoboxes / PRD class"""	9143	protein-coding gene	gene with protein product		603851	"""paired mesoderm homeobox 2b"""	PMX2B		9039501, 10395798	Standard	NM_003924		Approved	Phox2b, NBPhox	uc003gwf.4	Q99453	OTTHUMG00000099379	ENST00000226382.2:c.17A>G	4.37:g.41750611T>C	ENSP00000226382:p.Tyr6Cys					RP11-227F19.1_ENST00000508038.1_RNA	p.Y6C	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN			1	376	-			6					Q6PJD9	Missense_Mutation	SNP	ENST00000226382.2	37	c.17A>G	CCDS3463.1	.	.	.	.	.	.	.	.	.	.	T	13.93	2.384779	0.42308	.	.	ENSG00000109132	ENST00000226382	D	0.91351	-2.83	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.94377	0.8192	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.68192	0.956	D	0.94918	0.8071	10	0.87932	D	0	.	15.9043	0.79412	0.0:0.0:0.0:1.0	.	6	Q99453	PHX2B_HUMAN	C	6	ENSP00000226382:Y6C	ENSP00000226382:Y6C	Y	-	2	0	PHOX2B	41445368	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.955000	0.70306	2.169000	0.68431	0.459000	0.35465	TAT		0.483	PHOX2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216832.2			9	64	0	0	0	1	0	9	64				
UBBP4	23666	broad.mit.edu	37	17	21730847	21730847	+	Missense_Mutation	SNP	G	G	T	rs570609187	byFrequency	TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr17:21730847G>T	ENST00000578713.1	+	1	153	c.149G>T	c.(148-150)cGg>cTg	p.R50L	UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000584755.1_Missense_Mutation_p.R50L					ubiquitin B pseudogene 4											endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GGCAAGCAGCGGGAAGATGGC	0.522													.|||	3	0.000599042	0.0008	0.0	5008	,	,		21142	0.002		0.0	False		,,,				2504	0.0					ENST00000584755.1																			0				endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(148-150)cGg>cTg																																						SO:0001583	missense	0							g.chr17:21730847G>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.149G>T	17.37:g.21730847G>T	ENSP00000464265:p.Arg50Leu					UBBP4_ENST00000578713.1_Missense_Mutation_p.R50L|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron	p.R50L							2	546	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.149G>T																																																																																					0.522	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			4	92	1	0	0.150653	1	0.150653	4	92				
SPP1	6696	broad.mit.edu	37	4	88898248	88898248	+	Splice_Site	SNP	A	A	T			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr4:88898248A>T	ENST00000395080.3	+	3	219	c.92A>T	c.(91-93)cAg>cTg	p.Q31L	SPP1_ENST00000509659.1_3'UTR|SPP1_ENST00000360804.4_Splice_Site_p.Q31L|SPP1_ENST00000237623.7_Splice_Site_p.Q31L	NM_001040058.1|NM_001251830.1	NP_001035147.1|NP_001238759.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	31					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|negative regulation of collateral sprouting of intact axon in response to injury (GO:0048685)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell-substrate adhesion (GO:0010811)|response to steroid hormone (GO:0048545)|response to vitamin D (GO:0033280)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix binding (GO:0050840)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		GAGGAAAAGCAGGTAAGCATC	0.358																																						ENST00000237623.7																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13						c.e3+1		secreted phosphoprotein 1							91.0	89.0	90.0					4																	88898248		2203	4300	6503	SO:0001630	splice_region_variant	6696				biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity	g.chr4:88898248A>T		CCDS3626.1, CCDS34027.1, CCDS43250.1	4q22.1	2014-01-30	2008-07-31		ENSG00000118785	ENSG00000118785		"""Endogenous ligands"""	11255	protein-coding gene	gene with protein product	"""early T-lymphocyte activation 1"""	166490	"""osteopontin"", ""bone sialoprotein I"""	BNSP, OPN		1575754	Standard	NM_001251829		Approved	BSPI, ETA-1	uc003hra.3	P10451	OTTHUMG00000130599	ENST00000395080.3:c.93+1A>T	4.37:g.88898248A>T						SPP1_ENST00000395080.3_Splice_Site_p.Q31_splice|SPP1_ENST00000360804.4_Splice_Site_p.Q31_splice|SPP1_ENST00000509659.1_3'UTR	p.Q31_splice	NM_000582.2	NP_000573.1	P10451	OSTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)	3	240	+		Hepatocellular(203;0.114)	31					B2RDA1|Q15681|Q15682|Q15683|Q4W597|Q567T5|Q8NBK2|Q96IZ1	Splice_Site	SNP	ENST00000395080.3	37	c.93_splice	CCDS43250.1	.	.	.	.	.	.	.	.	.	.	A	16.64	3.179285	0.57800	.	.	ENSG00000118785	ENST00000359072;ENST00000535912;ENST00000237623;ENST00000395080;ENST00000360804;ENST00000508233	T;T;T;T	0.44482	1.58;1.58;0.92;1.51	4.89	-1.21	0.09524	.	0.681586	0.13342	N	0.395116	T	0.22244	0.0536	N	0.21097	0.63	0.20489	N	0.999899	B;B;B;B	0.18863	0.031;0.031;0.0;0.031	B;B;B;B	0.20767	0.031;0.031;0.002;0.031	T	0.14643	-1.0465	10	0.39692	T	0.17	-0.2292	2.5688	0.04790	0.4994:0.2797:0.0849:0.136	.	31;31;31;31	Q3LGB0;B2RDA1;Q567T5;P10451	.;.;.;OSTP_HUMAN	L	31	ENSP00000237623:Q31L;ENSP00000378517:Q31L;ENSP00000354042:Q31L;ENSP00000422973:Q31L	ENSP00000237623:Q31L	Q	+	2	0	SPP1	89117272	0.136000	0.22515	0.948000	0.38648	0.824000	0.46624	-0.272000	0.08560	0.153000	0.19213	0.472000	0.43445	CAG		0.358	SPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253048.3		Missense_Mutation	54	104	0	0	0	1	0	54	104				
ASPM	259266	broad.mit.edu	37	1	197061121	197061121	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr1:197061121A>T	ENST00000367409.4	-	22	9616	c.9360T>A	c.(9358-9360)aaT>aaA	p.N3120K	ASPM_ENST00000367408.1_Missense_Mutation_p.N785K|ASPM_ENST00000294732.7_Missense_Mutation_p.N1535K	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3120					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTCTAACAGCATTCAGGTGAT	0.363																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(9358-9360)aaT>aaA		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							102.0	105.0	104.0					1																	197061121		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197061121A>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.9360T>A	1.37:g.197061121A>T	ENSP00000356379:p.Asn3120Lys					ASPM_ENST00000367408.1_Missense_Mutation_p.N785K|ASPM_ENST00000294732.7_Missense_Mutation_p.N1535K	p.N3120K	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			22	9616	-			3120					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.9360T>A	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	A	8.727	0.915645	0.17907	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408;ENST00000367406	T;T;T	0.71341	-0.56;-0.56;1.41	5.28	1.64	0.23874	.	0.551366	0.19096	N	0.122829	T	0.36826	0.0981	N	0.02011	-0.69	0.22081	N	0.999376	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.22695	-1.0209	10	0.17369	T	0.5	.	5.9162	0.19055	0.7181:0.1386:0.1433:0.0	.	1106;1535;3120	E7EQ84;Q4G1H1;Q8IZT6	.;.;ASPM_HUMAN	K	3120;1535;785;1106	ENSP00000356379:N3120K;ENSP00000294732:N1535K;ENSP00000356378:N785K	ENSP00000294732:N1535K	N	-	3	2	ASPM	195327744	1.000000	0.71417	0.984000	0.44739	0.165000	0.22458	2.072000	0.41510	0.084000	0.17077	-0.299000	0.09455	AAT		0.363	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		10	144	0	0	0	1	0	10	144				
AR	367	broad.mit.edu	37	X	66765616	66765616	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chrX:66765616A>G	ENST00000374690.3	+	1	1152	c.628A>G	c.(628-630)Aga>Gga	p.R210G	AR_ENST00000504326.1_Missense_Mutation_p.R210G|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.R210G	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	208	Modulating.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CAGCAGCGGGAGAGCGAGGGA	0.577									Androgen Insensitivity Syndrome																													ENST00000374690.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67						c.(628-630)Aga>Gga		androgen receptor	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						31.0	31.0	31.0					X																	66765616		2203	4300	6503	SO:0001583	missense	367	Androgen Insensitivity Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66765616A>G	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.628A>G	X.37:g.66765616A>G	ENSP00000363822:p.Arg210Gly					AR_ENST00000396044.3_Missense_Mutation_p.R210G|AR_ENST00000504326.1_Missense_Mutation_p.R210G|AR_ENST00000513847.1_3'UTR	p.R210G	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN			1	1152	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	208			Modulating.		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	c.628A>G	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	a	15.21	2.765743	0.49574	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	D;D;D	0.95821	-3.82;-3.82;-3.82	5.15	3.92	0.45320	.	0.786413	0.12487	N	0.464638	D	0.97829	0.9287	M	0.92970	3.365	0.21416	N	0.999691	D;D;D	0.69078	0.996;0.996;0.997	D;D;D	0.85130	0.995;0.997;0.994	D	0.92093	0.5682	10	0.49607	T	0.09	.	8.0155	0.30379	0.7975:0.2025:0.0:0.0	.	210;210;208	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	G	20;210;210;210;202	ENSP00000363822:R210G;ENSP00000421155:R210G;ENSP00000379359:R210G	ENSP00000363822:R210G	R	+	1	2	AR	66682341	0.785000	0.28726	0.952000	0.39060	0.797000	0.45037	0.936000	0.28938	1.897000	0.54924	0.414000	0.27820	AGA		0.577	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		3	33	0	0	0	1	0	3	33				
ITGB6	3694	broad.mit.edu	37	2	160980358	160980358	+	Missense_Mutation	SNP	C	C	T	rs200145370		TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr2:160980358C>T	ENST00000283249.2	-	12	2162	c.1925G>A	c.(1924-1926)cGa>cAa	p.R642Q	ITGB6_ENST00000409872.1_Missense_Mutation_p.R642Q|ITGB6_ENST00000428609.2_Missense_Mutation_p.R600Q|ITGB6_ENST00000409967.2_Intron	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	642					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						ACATTCTTCTCGGGCTTGGCC	0.453																																						ENST00000283249.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(1924-1926)cGa>cAa		integrin, beta 6							167.0	145.0	153.0					2																	160980358		2203	4300	6503	SO:0001583	missense	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:160980358C>T		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.1925G>A	2.37:g.160980358C>T	ENSP00000283249:p.Arg642Gln					ITGB6_ENST00000409872.1_Missense_Mutation_p.R642Q|ITGB6_ENST00000409967.2_Intron|ITGB6_ENST00000428609.2_Missense_Mutation_p.R600Q	p.R642Q			P18564	ITB6_HUMAN			12	2162	-			642					B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	c.1925G>A	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	C	6.557	0.471136	0.12461	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409872	D;D;D	0.89810	-2.57;-2.57;-2.57	5.74	-9.73	0.00512	Integrin beta subunit, tail (2);	1.840370	0.02745	N	0.116711	T	0.64907	0.2641	N	0.00972	-1.085	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.62567	-0.6827	10	0.14656	T	0.56	.	8.482	0.33049	0.15:0.0848:0.0752:0.69	.	600;642	E9PEE8;P18564	.;ITB6_HUMAN	Q	642;600;642	ENSP00000283249:R642Q;ENSP00000408024:R600Q;ENSP00000386367:R642Q	ENSP00000283249:R642Q	R	-	2	0	ITGB6	160688604	0.001000	0.12720	0.000000	0.03702	0.478000	0.33099	-0.825000	0.04433	-2.073000	0.00878	-1.186000	0.01703	CGA		0.453	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		21	146	0	0	0	1	0	21	146				
CHMP7	91782	broad.mit.edu	37	8	23117744	23117744	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr8:23117744G>A	ENST00000397677.1	+	10	1856	c.1208G>A	c.(1207-1209)cGc>cAc	p.R403H	CHMP7_ENST00000313219.7_Missense_Mutation_p.R403H|CHMP7_ENST00000520102.1_3'UTR	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	403					endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|ESCRT III complex (GO:0000815)	protein transporter activity (GO:0008565)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GACAACCCCCGCAATAGGCAT	0.463																																						ENST00000397677.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(1207-1209)cGc>cAc		charged multivesicular body protein 7							114.0	103.0	107.0					8																	23117744		2203	4300	6503	SO:0001583	missense	91782				cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity	g.chr8:23117744G>A	BC019110	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457		"""Charged multivesicular body proteins"""	28439	protein-coding gene	gene with protein product		611130	"""CHMP family, member 7"""			16856878	Standard	NM_152272		Approved	MGC29816	uc003xdc.2	Q8WUX9	OTTHUMG00000131785	ENST00000397677.1:c.1208G>A	8.37:g.23117744G>A	ENSP00000380794:p.Arg403His					CHMP7_ENST00000520102.1_3'UTR|CHMP7_ENST00000313219.7_Missense_Mutation_p.R403H	p.R403H	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	10	1856	+		Prostate(55;0.0513)	403					B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50	Missense_Mutation	SNP	ENST00000397677.1	37	c.1208G>A	CCDS6040.1	.	.	.	.	.	.	.	.	.	.	G	0.929	-0.713202	0.03206	.	.	ENSG00000147457	ENST00000397677;ENST00000313219	T;T	0.72051	-0.62;-0.62	5.66	0.44	0.16572	.	1.024250	0.07702	N	0.940628	T	0.46405	0.1391	N	0.03608	-0.345	0.19575	N	0.999962	B	0.02656	0.0	B	0.01281	0.0	T	0.30736	-0.9968	10	0.41790	T	0.15	1.795	8.3088	0.32058	0.4768:0.4486:0.0746:0.0	.	403	Q8WUX9	CHMP7_HUMAN	H	403	ENSP00000380794:R403H;ENSP00000324491:R403H	ENSP00000324491:R403H	R	+	2	0	CHMP7	23173689	0.176000	0.23096	0.020000	0.16555	0.016000	0.09150	0.625000	0.24477	-0.141000	0.11374	-0.312000	0.09012	CGC		0.463	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254717.1	NM_152272		4	207	0	0	0	1	0	4	207				
MYO1C	4641	broad.mit.edu	37	17	1375272	1375272	+	Silent	SNP	C	C	T			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr17:1375272C>T	ENST00000575158.1	-	19	2021	c.1845G>A	c.(1843-1845)ggG>ggA	p.G615G	MYO1C_ENST00000361007.2_Silent_p.G615G|MYO1C_ENST00000359786.5_Silent_p.G650G|MYO1C_ENST00000438665.2_Silent_p.G631G|MYO1C_ENST00000545534.2_Silent_p.G626G			Q12965	MYO1E_HUMAN	myosin IC	611	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TTTCCAACAGCCCCAGGTACT	0.657																																						ENST00000359786.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(1948-1950)ggG>ggA		myosin IC							68.0	71.0	70.0					17																	1375272		2203	4300	6503	SO:0001819	synonymous_variant	4641				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:1375272C>T	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"""Myosins / Myosin superfamily : Class I"""	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.1845G>A	17.37:g.1375272C>T						MYO1C_ENST00000361007.2_Silent_p.G615G|MYO1C_ENST00000545534.2_Silent_p.G626G|MYO1C_ENST00000438665.2_Silent_p.G631G|MYO1C_ENST00000575158.1_Silent_p.G615G	p.G650G	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	19	2274	-			650			Myosin head-like.		Q14778	Silent	SNP	ENST00000575158.1	37	c.1950G>A	CCDS11003.1																																																																																				0.657	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2			14	216	0	0	0	1	0	14	216				
SLC14A1	6563	broad.mit.edu	37	18	43316423	43316423	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr18:43316423C>A	ENST00000321925.4	+	6	705	c.473C>A	c.(472-474)cCa>cAa	p.P158Q	SLC14A1_ENST00000402943.2_Missense_Mutation_p.P53Q|SLC14A1_ENST00000591943.1_Intron|SLC14A1_ENST00000415427.3_Missense_Mutation_p.P214Q|SLC14A1_ENST00000502059.2_Missense_Mutation_p.P50Q|SLC14A1_ENST00000436407.3_Missense_Mutation_p.P214Q|SLC14A1_ENST00000535474.1_Missense_Mutation_p.P26Q|SLC14A1_ENST00000589700.1_Missense_Mutation_p.P158Q|SLC14A1_ENST00000586142.1_Missense_Mutation_p.P158Q|RP11-116O18.3_ENST00000589510.1_RNA|RP11-116O18.3_ENST00000586213.1_RNA	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1 (Kidd blood group)	158					transmembrane transport (GO:0055085)|urea transmembrane transport (GO:0071918)|urea transport (GO:0015840)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	urea channel activity (GO:0015265)|urea transmembrane transporter activity (GO:0015204)|water transmembrane transporter activity (GO:0005372)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						TTTTTTAGCCCAATTTTCTCA	0.473																																						ENST00000321925.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(472-474)cCa>cAa		solute carrier family 14 (urea transporter), member 1							108.0	102.0	104.0					18																	43316423		2203	4300	6503	SO:0001583	missense	6563					integral to plasma membrane	urea transmembrane transporter activity	g.chr18:43316423C>A	BC040128	CCDS11925.1, CCDS45860.1	18q11-q12	2014-07-19	2014-01-02		ENSG00000141469	ENSG00000141469		"""Blood group antigens"", ""Solute carriers"""	10918	protein-coding gene	gene with protein product		613868	"""Kidd blood group"", ""solute carrier family 14 (urea transporter), member 1"""	JK		7797558	Standard	NM_001146037		Approved	HsT1341, RACH1, RACH2	uc010dnk.3	Q13336	OTTHUMG00000132617	ENST00000321925.4:c.473C>A	18.37:g.43316423C>A	ENSP00000318546:p.Pro158Gln					SLC14A1_ENST00000436407.3_Missense_Mutation_p.P214Q|SLC14A1_ENST00000589700.1_Missense_Mutation_p.P158Q|SLC14A1_ENST00000535474.1_Missense_Mutation_p.P26Q|SLC14A1_ENST00000591943.1_Intron|SLC14A1_ENST00000502059.2_Missense_Mutation_p.P50Q|SLC14A1_ENST00000402943.2_Missense_Mutation_p.P53Q|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000415427.3_Missense_Mutation_p.P214Q|SLC14A1_ENST00000586142.1_Missense_Mutation_p.P158Q|RP11-116O18.3_ENST00000589510.1_RNA	p.P158Q	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN			6	705	+			158					A8K0P3|B3KR62|B3KVX3|C9EHF2|Q86VM5	Missense_Mutation	SNP	ENST00000321925.4	37	c.473C>A	CCDS11925.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320457	0.81469	.	.	ENSG00000141469	ENST00000321925;ENST00000415427;ENST00000502059;ENST00000402943;ENST00000535474;ENST00000436407	T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74	5.51	5.51	0.81932	.	0.059258	0.64402	D	0.000002	T	0.77525	0.4143	M	0.92784	3.345	0.80722	D	1	D;P;D	0.89917	1.0;0.922;0.961	D;P;P	0.91635	0.999;0.866;0.908	T	0.82458	-0.0447	10	0.62326	D	0.03	-8.7434	19.4985	0.95083	0.0:1.0:0.0:0.0	.	214;50;158	Q13336-2;B3KXJ3;Q13336	.;.;UT1_HUMAN	Q	158;214;50;53;26;214	ENSP00000318546:P158Q;ENSP00000412309:P214Q;ENSP00000442180:P50Q;ENSP00000385320:P53Q;ENSP00000441998:P26Q;ENSP00000390637:P214Q	ENSP00000318546:P158Q	P	+	2	0	SLC14A1	41570421	1.000000	0.71417	0.764000	0.31436	0.508000	0.34012	6.717000	0.74707	2.598000	0.87819	0.650000	0.86243	CCA		0.473	SLC14A1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255860.2	NM_015865		4	220	1	0	3.59834e-05	1	3.68829e-05	4	220				
TMEM62	80021	broad.mit.edu	37	15	43473409	43473409	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr15:43473409G>A	ENST00000260403.2	+	13	1796	c.1517G>A	c.(1516-1518)gGc>gAc	p.G506D	RP11-473C18.3_ENST00000565685.1_RNA|TMEM62_ENST00000569369.1_3'UTR|EPB42_ENST00000563128.1_Intron	NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	506						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		ATCATTGATGGCAAATTTGGT	0.338																																						ENST00000260403.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1516-1518)gGc>gAc		transmembrane protein 62							237.0	231.0	233.0					15																	43473409		2202	4298	6500	SO:0001583	missense	80021					integral to membrane		g.chr15:43473409G>A	BC009981	CCDS32210.1	15q15.2	2014-09-11			ENSG00000137842	ENSG00000137842			26269	protein-coding gene	gene with protein product							Standard	NM_024956		Approved	FLJ23375	uc001zqr.3	Q0P6H9	OTTHUMG00000176485	ENST00000260403.2:c.1517G>A	15.37:g.43473409G>A	ENSP00000260403:p.Gly506Asp					EPB42_ENST00000563128.1_Intron|TMEM62_ENST00000569369.1_3'UTR	p.G506D	NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN		GBM - Glioblastoma multiforme(94;4.23e-07)	13	1796	+		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)	506					Q6I9Y5|Q9H5J6	Missense_Mutation	SNP	ENST00000260403.2	37	c.1517G>A	CCDS32210.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357491	0.41801	.	.	ENSG00000137842	ENST00000260403	.	.	.	4.58	3.66	0.41972	.	0.047872	0.85682	N	0.000000	T	0.51227	0.1662	L	0.52905	1.665	0.80722	D	1	P	0.34522	0.455	B	0.34301	0.179	T	0.50533	-0.8817	9	0.32370	T	0.25	-6.7553	12.9295	0.58278	0.0794:0.0:0.9206:0.0	.	506	Q0P6H9	TMM62_HUMAN	D	506	.	ENSP00000260403:G506D	G	+	2	0	TMEM62	41260701	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.773000	0.75006	1.273000	0.44346	0.462000	0.41574	GGC		0.338	TMEM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432227.1	NM_024956		5	367	0	0	0	1	0	5	367				
MARCKSL1	65108	broad.mit.edu	37	1	32800637	32800637	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr1:32800637G>A	ENST00000329421.7	-	2	494	c.149C>T	c.(148-150)cCt>cTt	p.P50L		NM_023009.6	NP_075385.1	P49006	MRP_HUMAN	MARCKS-like 1	50					positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				breast(1)|large_intestine(3)|lung(1)|ovary(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TCCGTTCACAGGGGGCGACTC	0.642																																						ENST00000329421.7																			0				breast(1)|large_intestine(3)|lung(1)|ovary(1)	6						c.(148-150)cCt>cTt		MARCKS-like 1							63.0	67.0	66.0					1																	32800637		2203	4298	6501	SO:0001583	missense	65108					plasma membrane	calmodulin binding	g.chr1:32800637G>A	AF031640	CCDS361.1	1p35.1	2008-02-05	2004-11-17	2004-11-17	ENSG00000175130	ENSG00000175130			7142	protein-coding gene	gene with protein product		602940	"""MARCKS-like protein"""	MLP		9598313	Standard	NM_023009		Approved	F52, MacMARCKS, MLP1	uc001bvd.4	P49006	OTTHUMG00000007589	ENST00000329421.7:c.149C>T	1.37:g.32800637G>A	ENSP00000362638:p.Pro50Leu						p.P50L	NM_023009.6	NP_075385.1	P49006	MRP_HUMAN			2	494	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	50					D3DPQ0|Q5TEE6|Q6NXS5	Missense_Mutation	SNP	ENST00000329421.7	37	c.149C>T	CCDS361.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.219972	0.39201	.	.	ENSG00000175130	ENST00000329421	T	0.28454	1.61	3.9	2.98	0.34508	.	0.145674	0.47455	D	0.000229	T	0.30885	0.0779	L	0.38175	1.15	0.58432	D	0.999992	P	0.38300	0.626	B	0.43413	0.419	T	0.26430	-1.0103	10	0.72032	D	0.01	-5.6249	14.0607	0.64797	0.0:0.153:0.847:0.0	.	50	P49006	MRP_HUMAN	L	50	ENSP00000362638:P50L	ENSP00000362638:P50L	P	-	2	0	MARCKSL1	32573224	0.990000	0.36364	0.963000	0.40424	0.986000	0.74619	2.010000	0.40913	1.228000	0.43614	0.561000	0.74099	CCT		0.642	MARCKSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020059.3	NM_023009		78	31	0	0	0	1	0	78	31				
FRRS1	391059	broad.mit.edu	37	1	100194159	100194159	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr1:100194159C>T	ENST00000414213.1	-	9	1497	c.896G>A	c.(895-897)gGt>gAt	p.G299D	FRRS1_ENST00000287474.5_Missense_Mutation_p.G299D			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	299	DOMON. {ECO:0000255|PROSITE- ProRule:PRU00246}.					integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		CTGCATAACACCGTCCGCCAA	0.393																																						ENST00000414213.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26						c.(895-897)gGt>gAt		ferric-chelate reductase 1							118.0	114.0	116.0					1																	100194159		2203	4300	6503	SO:0001583	missense	391059				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding	g.chr1:100194159C>T	AK131302	CCDS30780.1	1p21.3	2009-11-30	2006-02-22	2006-02-22	ENSG00000156869	ENSG00000156869			27622	protein-coding gene	gene with protein product		611578	"""stromal cell derived factor receptor 2 homolog (mouse)"""	SDFR2			Standard	NM_001013660		Approved	SDR2	uc001dsh.1	Q6ZNA5	OTTHUMG00000010768	ENST00000414213.1:c.896G>A	1.37:g.100194159C>T	ENSP00000393884:p.Gly299Asp					FRRS1_ENST00000287474.5_Missense_Mutation_p.G299D	p.G299D			Q6ZNA5	FRRS1_HUMAN		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)	9	1497	-		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)	299			DOMON.		A6NLN7	Missense_Mutation	SNP	ENST00000414213.1	37	c.896G>A		.	.	.	.	.	.	.	.	.	.	C	23.9	4.473912	0.84640	.	.	ENSG00000156869	ENST00000414213;ENST00000287474	T;T	0.80738	-1.41;-1.41	5.19	5.19	0.71726	.	0.105878	0.64402	D	0.000005	D	0.86694	0.5994	L	0.61036	1.89	0.80722	D	1	D	0.64830	0.994	D	0.75484	0.986	D	0.86957	0.2089	10	0.54805	T	0.06	-15.8369	18.7036	0.91630	0.0:1.0:0.0:0.0	.	299	Q6ZNA5-2	.	D	299	ENSP00000393884:G299D;ENSP00000287474:G299D	ENSP00000287474:G299D	G	-	2	0	FRRS1	99966747	1.000000	0.71417	0.672000	0.29872	0.855000	0.48748	5.970000	0.70431	2.415000	0.81967	0.491000	0.48974	GGT		0.393	FRRS1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001013660		58	35	0	0	0	1	0	58	35				
NLRC4	58484	broad.mit.edu	37	2	32475056	32475056	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr2:32475056delT	ENST00000404025.2	-	5	2365	c.1877delA	c.(1876-1878)aagfs	p.K626fs	NLRC4_ENST00000402280.1_Frame_Shift_Del_p.K626fs|NLRC4_ENST00000360906.5_Frame_Shift_Del_p.K626fs|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	626					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTCTGCAGCCTTTTCCCATGA	0.458																																						ENST00000404025.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(1876-1878)agfs		NLR family, CARD domain containing 4							156.0	171.0	166.0					2																	32475056		2203	4300	6503	SO:0001589	frameshift_variant	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32475056delT	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.1877delA	2.37:g.32475056delT	ENSP00000385090:p.Lys626fs					NLRC4_ENST00000402280.1_Frame_Shift_Del_p.K626fs|NLRC4_ENST00000360906.5_Frame_Shift_Del_p.K626fs|NLRC4_ENST00000342905.6_Intron	p.K626fs			Q9NPP4	NLRC4_HUMAN			5	2365	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		626					A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Frame_Shift_Del	DEL	ENST00000404025.2	37	c.1877delA	CCDS33174.1																																																																																				0.458	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		7	462						7	462	---	---	---	---
MUC4	4585	broad.mit.edu	37	3	195512373	195512374	+	In_Frame_Ins	INS	-	-	GAT	rs112774151|rs63118461		TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr3:195512373_195512374insGAT	ENST00000463781.3	-	2	6536_6537	c.6077_6078insATC	c.(6076-6078)tcc>tcATCc	p.2026_2026S>SS	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_In_Frame_Ins_p.2026_2026S>SS	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.S2026_T2027insS(3)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTCACCAGTGGATGCTGAGGA	0.579																																						ENST00000463781.3																			3	Insertion - In frame(3)	p.S2026_T2027insS(3)	large_intestine(2)|breast(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(6076-6078)tac>tATCac		mucin 4, cell surface associated			,,	1110,2296		177,756,770					,,		0.0		dbSNP_130	24	1888,5346		82,1724,1811	no	intron,coding,intron	MUC4	NM_138297.4,NM_018406.6,NM_004532.5	,,	259,2480,2581	A1A1,A1R,RR		26.099,32.5895,28.1767	,,	,,		2998,7642				SO:0001652	inframe_insertion	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195512373_195512374insGAT	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6075_6077dupATC	3.37:g.195512374_195512376dupGAT	ENSP00000417498:p.Ser2026dup					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_In_Frame_Ins_p.2026_2027insH|MUC4_ENST00000346145.4_Intron	p.2026_2027insH	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	6536_6537	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	798					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Ins	INS	ENST00000463781.3	37	c.6077_6078insATC	CCDS54700.1																																																																																				0.579	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	3						3	3	---	---	---	---
MFAP3L	9848	broad.mit.edu	37	4	170926744	170926746	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr4:170926744_170926746delCTT	ENST00000361618.3	-	2	590_592	c.283_285delAAG	c.(283-285)aagdel	p.K95del	MFAP3L_ENST00000506110.1_In_Frame_Del_p.K95del|MFAP3L_ENST00000393702.3_In_Frame_Del_p.K95del|MFAP3L_ENST00000393704.3_5'Flank	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	95	Ig-like C2-type.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		CTCCTCTCTCCTTCTCATCCTCT	0.424																																						ENST00000361618.3																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(283-285)del		microfibrillar-associated protein 3-like																																				SO:0001651	inframe_deletion	9848					integral to membrane|plasma membrane		g.chr4:170926744_170926746delCTT	AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948		"""Immunoglobulin superfamily / I-set domain containing"""	29083	protein-coding gene	gene with protein product						9734811	Standard	XM_005263366		Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000361618.3:c.283_285delAAG	4.37:g.170926744_170926746delCTT	ENSP00000354583:p.Lys95del					MFAP3L_ENST00000393702.3_In_Frame_Del_p.K95del|MFAP3L_ENST00000506110.1_In_Frame_Del_p.K95del	p.K95del	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)	2	590_592	-		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)	95			Ig-like C2-type.		A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	In_Frame_Del	DEL	ENST00000361618.3	37	c.283_285delAAG	CCDS34103.1																																																																																				0.424	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363043.2	NM_021647		22	416						22	416	---	---	---	---
FAM66E	100132103	broad.mit.edu	37	8	7829133	7829134	+	lincRNA	DEL	TG	TG	-			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr8:7829133_7829134delTG	ENST00000533615.1	+	0	1153							P0C841	FA66E_HUMAN	family with sequence similarity 66, member E																		tatttgtgtttgtgtgtgtgtg	0.49																																						ENST00000533615.1																			0																																																			0							g.chr8:7829133_7829134delTG			8p23.1	2013-07-05			ENSG00000225725	ENSG00000225725		"""Long non-coding RNAs"""	18735	non-coding RNA	RNA, long non-coding							Standard	NR_027424		Approved		uc011kws.1	P0C841	OTTHUMG00000165403		8.37:g.7829143_7829144delTG														0	1153	+									RNA	DEL	ENST00000533615.1	37																																																																																						0.490	FAM66E-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000383841.1			3	4						3	4	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139413070	139413072	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr9:139413070_139413072delAGA	ENST00000277541.6	-	6	1145_1147	c.1070_1072delTCT	c.(1069-1074)ttctac>tac	p.F357del	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	357	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|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)	p.F357delF(4)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCAGTAGAAGGAGGCCAC	0.655			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		4	Deletion - In frame(4)	p.F357delF(4)	upper_aerodigestive_tract(2)|central_nervous_system(2)	breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1069-1074)tac>t		notch 1																																				SO:0001651	inframe_deletion	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139413070_139413072delAGA	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1070_1072delTCT	9.37:g.139413070_139413072delAGA	ENSP00000277541:p.Phe357del	HNSCC(8;0.001)					p.FY357del	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	6	1145_1147	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	357			EGF-like 9; calcium-binding (Potential).		Q59ED8|Q5SXM3	In_Frame_Del	DEL	ENST00000277541.6	37	c.1070_1072delTCT	CCDS43905.1																																																																																				0.655	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		10	32						10	32	---	---	---	---
KCNIP2	30819	broad.mit.edu	37	10	103589642	103589642	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr10:103589642delG	ENST00000356640.2	-	3	457	c.182delC	c.(181-183)ccafs	p.P61fs	KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000358038.3_Intron|KCNIP2-AS1_ENST00000412353.1_RNA|KCNIP2_ENST00000370046.1_Intron|KCNIP2_ENST00000461105.1_Frame_Shift_Del_p.P76fs|KCNIP2_ENST00000343195.4_Intron|KCNIP2_ENST00000348850.5_Intron|KCNIP2_ENST00000353068.3_Intron	NM_014591.4|NM_173191.2	NP_055406.2|NP_775283.1	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2	61					clustering of voltage-gated potassium channels (GO:0045163)|detection of calcium ion (GO:0005513)|membrane repolarization (GO:0086009)|muscle contraction (GO:0006936)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of cation channel activity (GO:2001257)|regulation of heart contraction (GO:0008016)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|calcium ion binding (GO:0005509)|ER retention sequence binding (GO:0046923)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein N-terminus binding (GO:0047485)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		GAGGGAGGCTGGGGCGGCTAA	0.667																																						ENST00000356640.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(181-183)cafs		Kv channel interacting protein 2							56.0	50.0	52.0					10																	103589642		2138	4229	6367	SO:0001589	frameshift_variant	30819				clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission	cytoplasm|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding	g.chr10:103589642delG		CCDS7521.1, CCDS7522.1, CCDS7523.1, CCDS7524.1, CCDS7525.1, CCDS7526.1, CCDS41562.1	10q24.32	2013-09-20	2001-11-29		ENSG00000120049	ENSG00000120049		"""EF-hand domain containing"""	15522	protein-coding gene	gene with protein product		604661	"""Kv channel-interacting protein 2"""			10676964	Standard	NM_173192		Approved	KCHIP2	uc001kuc.3	Q9NS61	OTTHUMG00000018937	ENST00000356640.2:c.182delC	10.37:g.103589642delG	ENSP00000349055:p.Pro61fs					KCNIP2_ENST00000370046.1_Intron|KCNIP2_ENST00000343195.4_Intron|KCNIP2_ENST00000358038.3_Intron|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000348850.5_Intron|KCNIP2_ENST00000353068.3_Intron|KCNIP2_ENST00000461105.1_Frame_Shift_Del_p.P76fs	p.P61fs	NM_014591.4|NM_173191.2	NP_055406.2|NP_775283.1	Q9NS61	KCIP2_HUMAN		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)	3	457	-		Colorectal(252;0.122)	61					A6NJE5|A8MQ75|Q3YAC6|Q3YAC8|Q3YAC9|Q7Z6F1|Q96K86|Q96T41|Q96T42|Q96T43|Q96T44|Q9H0N4|Q9HD10|Q9HD11|Q9NS60|Q9NY10|Q9NZI1	Frame_Shift_Del	DEL	ENST00000356640.2	37	c.182delC	CCDS7522.1																																																																																				0.667	KCNIP2-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049973.1			2	4						2	4	---	---	---	---
SLC7A7	9056	broad.mit.edu	37	14	23242852	23242856	+	Frame_Shift_Del	DEL	CTCTC	CTCTC	-			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr14:23242852_23242856delCTCTC	ENST00000397532.3	-	10	2024_2028	c.1499_1503delGAGAG	c.(1498-1503)ggagagfs	p.GE500fs	SLC7A7_ENST00000554517.1_Frame_Shift_Del_p.GE234fs|SLC7A7_ENST00000397528.4_Frame_Shift_Del_p.GE500fs|SLC7A7_ENST00000555702.1_Frame_Shift_Del_p.GE500fs|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000285850.7_Frame_Shift_Del_p.GE500fs|SLC7A7_ENST00000397529.2_Frame_Shift_Del_p.GE500fs			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	500					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		GCTTGGGCATCTCTCCTCCATCTTC	0.473																																						ENST00000397532.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20						c.(1498-1503)gfs		solute carrier family 7 (amino acid transporter light chain, y+L system), member 7																																				SO:0001589	frameshift_variant	9056				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity	g.chr14:23242852_23242856delCTCTC	AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"""Solute carriers"""	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.1499_1503delGAGAG	14.37:g.23242852_23242856delCTCTC	ENSP00000380666:p.Gly500fs					SLC7A7_ENST00000285850.7_Frame_Shift_Del_p.GE500fs|SLC7A7_ENST00000555702.1_Frame_Shift_Del_p.GE500fs|SLC7A7_ENST00000554517.1_Frame_Shift_Del_p.GE234fs|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000397529.2_Frame_Shift_Del_p.GE500fs|SLC7A7_ENST00000397528.4_Frame_Shift_Del_p.GE500fs	p.GE500fs			Q9UM01	YLAT1_HUMAN		GBM - Glioblastoma multiforme(265;0.00741)	10	2024_2028	-	all_cancers(95;8.44e-05)		500					B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Frame_Shift_Del	DEL	ENST00000397532.3	37	c.1499_1503delGAGAG	CCDS9574.1																																																																																				0.473	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3			20	72						20	72	---	---	---	---
ZC3H18	124245	broad.mit.edu	37	16	88677692	88677695	+	Frame_Shift_Del	DEL	GAGA	GAGA	-	rs145094173		TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr16:88677692_88677695delGAGA	ENST00000301011.5	+	8	1423_1426	c.1223_1226delGAGA	c.(1222-1227)cgagagfs	p.RE410fs	ZC3H18_ENST00000452588.2_Frame_Shift_Del_p.RE434fs	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	410						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		gagcgggagcgagagagagagaac	0.647																																					Ovarian(121;375 2276 20373 38669)	ENST00000301011.5																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1222-1227)cgfs		zinc finger CCCH-type containing 18																																				SO:0001589	frameshift_variant	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88677692_88677695delGAGA	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1223_1226delGAGA	16.37:g.88677700_88677703delGAGA	ENSP00000301011:p.Arg410fs					ZC3H18_ENST00000452588.2_Frame_Shift_Del_p.RE434fs	p.RE410fs	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	8	1423_1426	+			410					Q96DG4|Q96MP7	Frame_Shift_Del	DEL	ENST00000301011.5	37	c.1223_1226delGAGA	CCDS10967.1																																																																																				0.647	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		10	56						10	56	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42798857	42798858	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr19:42798857_42798858delCT	ENST00000575354.2	+	19	4469_4470	c.4429_4430delCT	c.(4429-4431)ctcfs	p.L1477fs	CIC_ENST00000572681.2_Frame_Shift_Del_p.L2383fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.L1475fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1477					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGTCATGCAGCTCTTTCAGGAC	0.604			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(7147-7149)cfs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42798857_42798858delCT	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.4429_4430delCT	19.37:g.42798859_42798860delCT	ENSP00000458663:p.Leu1477fs					CIC_ENST00000575354.2_Frame_Shift_Del_p.L1477fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.L1475fs	p.L2383fs			Q96RK0	CIC_HUMAN			20	7215_7216	+		Prostate(69;0.00682)	1477					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.7147_7148delCT	CCDS12601.1																																																																																				0.604	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			74	50						74	50	---	---	---	---
ZNF335	63925	broad.mit.edu	37	20	44579160	44579162	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr20:44579160_44579162delCTT	ENST00000322927.2	-	21	3362_3364	c.3262_3264delAAG	c.(3262-3264)aagdel	p.K1088del	ZNF335_ENST00000426788.1_In_Frame_Del_p.K933del	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1088					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GACGCAGGTCCTTCTTGTTCTTG	0.601																																						ENST00000322927.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(3262-3264)del		zinc finger protein 335																																				SO:0001651	inframe_deletion	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44579160_44579162delCTT	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.3262_3264delAAG	20.37:g.44579163_44579165delCTT	ENSP00000325326:p.Lys1088del					ZNF335_ENST00000426788.1_In_Frame_Del_p.K933del	p.K1088del	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN			21	3362_3364	-		Myeloproliferative disorder(115;0.0122)	1088					B4DLG7|Q548D0|Q9H684	In_Frame_Del	DEL	ENST00000322927.2	37	c.3262_3264delAAG	CCDS13389.1																																																																																				0.601	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		34	376						34	376	---	---	---	---
MIR3687-2	103504728	broad.mit.edu	37	21	9825838	9825839	+	RNA	INS	-	-	GCG	rs372061766|rs369177681|rs563875271	byFrequency	TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr21:9825838_9825839insGCG	ENST00000577708.1	+	0	0				MIR3648_ENST00000581792.1_RNA	NR_037458.1																						cggccgcgactgcggcggcggt	0.842																																						ENST00000581792.1																			0																																																			0							g.chr21:9825838_9825839insGCG																													21.37:g.9825845_9825847dupGCG								NR_037421.1						0	7_8	+									RNA	INS	ENST00000577708.1	37																																																																																						0.842	MIR3687-201	KNOWN	basic	miRNA	miRNA				4	3						4	3	---	---	---	---
APP	351	broad.mit.edu	37	21	27394182	27394184	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr21:27394182_27394184delGTG	ENST00000346798.3	-	6	870_872	c.837_839delCAC	c.(835-840)accaca>aca	p.279_280TT>T	APP_ENST00000354192.3_In_Frame_Del_p.223_224TT>T|APP_ENST00000358918.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000359726.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000440126.3_In_Frame_Del_p.274_275TT>T|APP_ENST00000448388.2_In_Frame_Del_p.244_245TT>T|APP_ENST00000439274.2_In_Frame_Del_p.223_224TT>T|APP_ENST00000474136.1_5'UTR|APP_ENST00000348990.5_In_Frame_Del_p.279_280TT>T|APP_ENST00000357903.3_In_Frame_Del_p.279_280TT>T	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	279	Poly-Thr.				adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CACAGACTCTgtggtggtggtgg	0.522																																						ENST00000358918.3																			0				endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(835-840)aca>ac		amyloid beta (A4) precursor protein																																				SO:0001651	inframe_deletion	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27394182_27394184delGTG	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.837_839delCAC	21.37:g.27394191_27394193delGTG	ENSP00000284981:p.Thr280del					APP_ENST00000448388.2_In_Frame_Del_p.TT244del|APP_ENST00000346798.3_In_Frame_Del_p.TT279del|APP_ENST00000440126.3_In_Frame_Del_p.TT274del|APP_ENST00000439274.2_In_Frame_Del_p.TT223del|APP_ENST00000474136.1_5'UTR|APP_ENST00000359726.3_In_Frame_Del_p.TT279del|APP_ENST00000357903.3_In_Frame_Del_p.TT279del|APP_ENST00000354192.3_In_Frame_Del_p.TT223del|APP_ENST00000348990.5_In_Frame_Del_p.TT279del	p.TT279del	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN			6	1036_1038	-		Breast(209;0.00295)	279			Poly-Thr.		B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	In_Frame_Del	DEL	ENST00000346798.3	37	c.837_839delCAC	CCDS13576.1																																																																																				0.522	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		7	78						7	78	---	---	---	---
KIAA0930	23313	broad.mit.edu	37	22	45601748	45601749	+	Frame_Shift_Ins	INS	-	-	G			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr22:45601748_45601749insG	ENST00000336156.5	-	3	326_327	c.261_262insC	c.(259-264)tccaagfs	p.K88fs	KIAA0930_ENST00000251993.7_Frame_Shift_Ins_p.K93fs|KIAA0930_ENST00000443310.3_Frame_Shift_Ins_p.K70fs|KIAA0930_ENST00000391627.2_Frame_Shift_Ins_p.K54fs	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	88										endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						GGCAGCTTCTTGGAGTCCCGCC	0.634																																						ENST00000336156.4																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						c.(259-264)tcagaafs		KIAA0930																																				SO:0001589	frameshift_variant	23313						protein binding	g.chr22:45601748_45601749insG	AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364			1314	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 9"""	C22orf9		10231032	Standard	NM_015264		Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.262dupC	22.37:g.45601750_45601750dupG	ENSP00000336720:p.Lys88fs					KIAA0930_ENST00000251993.7_Frame_Shift_Ins_p.E93fs|KIAA0930_ENST00000391627.2_Frame_Shift_Ins_p.E54fs|KIAA0930_ENST00000443310.3_Frame_Shift_Ins_p.E70fs	p.E88fs	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN			3	326_327	-			88					B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	Frame_Shift_Ins	INS	ENST00000336156.5	37	c.261_262insC	CCDS33665.1																																																																																				0.634	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321975.2	NM_001009880		55	60						55	60	---	---	---	---
