#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
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	89								p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I89V(4)	prostate(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(265-267)Att>Gtt																																						SO:0001583	missense	0							g.chr20:29628263A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.265A>G	20.37:g.29628263A>G	ENSP00000278882:p.Ile89Val					FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V	p.I89V							6	645	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.265A>G		.	.	.	.	.	.	.	.	.	.	a	8.196	0.797144	0.16327	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.44482	0.92	2.08	2.08	0.27032	Actin cross-linking (1);	0.052017	0.85682	D	0.000000	T	0.22666	0.0547	.	.	.	0.33862	D	0.633895	B;B	0.06786	0.0;0.001	B;B	0.20767	0.018;0.031	T	0.12041	-1.0563	9	0.22706	T	0.39	.	3.8663	0.09018	0.8139:0.0:0.1861:0.0	.	94;89	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	V	89;94;89	ENSP00000408863:I94V	ENSP00000278882:I89V	I	+	1	0	FRG1B	28241924	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.345000	0.59360	1.208000	0.43306	0.347000	0.21830	ATT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	160	0	0	0	1	0	5	160				
ZFHX3	463	broad.mit.edu	37	16	72991392	72991392	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr16:72991392G>A	ENST00000268489.5	-	2	3325	c.2653C>T	c.(2653-2655)Cag>Tag	p.Q885*	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	885					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ATCATGAACTGGGCGTCCGAG	0.597																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(2653-2655)Cag>Tag		zinc finger homeobox 3							110.0	101.0	104.0					16																	72991392		2198	4300	6498	SO:0001587	stop_gained	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72991392G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2653C>T	16.37:g.72991392G>A	ENSP00000268489:p.Gln885*					ZFHX3_ENST00000397992.5_Intron	p.Q885*	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			2	3325	-		Ovarian(137;0.13)	885					D3DWS8|O15101|Q13719	Nonsense_Mutation	SNP	ENST00000268489.5	37	c.2653C>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	48	14.183919	0.99783	.	.	ENSG00000140836	ENST00000268489	.	.	.	5.52	5.52	0.82312	.	0.288606	0.24717	N	0.036172	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	19.4741	0.94979	0.0:0.0:1.0:0.0	.	.	.	.	X	885	.	ENSP00000268489:Q885X	Q	-	1	0	ZFHX3	71548893	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	9.801000	0.99128	2.595000	0.87683	0.655000	0.94253	CAG		0.597	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		27	62	0	0	0	1	0	27	62				
BAGE2	85319	broad.mit.edu	37	21	11049592	11049592	+	RNA	SNP	C	C	T	rs3906134	byFrequency	TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr21:11049592C>T	ENST00000470054.1	-	0	516							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCCGGGCTGTCGCACACTGCA	0.388																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							72.0	57.0	62.0					21																	11049592		692	1591	2283			85319							g.chr21:11049592C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11049592C>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	516	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.388	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		20	184	0	0	0	1	0	20	184				
OLAH	55301	broad.mit.edu	37	10	15103733	15103733	+	Silent	SNP	A	A	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr10:15103733A>G	ENST00000378228.3	+	4	428	c.174A>G	c.(172-174)ttA>ttG	p.L58L	OLAH_ENST00000378217.3_Silent_p.L111L	NM_001039702.2	NP_001034791.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	58					fatty acid biosynthetic process (GO:0006633)		myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						TGCACTCCTTAAGGCTTCCTG	0.428																																						ENST00000378217.3																			0				endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						c.(331-333)ttA>ttG		oleoyl-ACP hydrolase							106.0	100.0	102.0					10																	15103733		2203	4300	6503	SO:0001819	synonymous_variant	55301				fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity	g.chr10:15103733A>G	AK001844	CCDS7106.1, CCDS31152.1	10p13	2010-11-23	2006-07-07	2006-07-07	ENSG00000152463	ENSG00000152463	3.1.2.14		25625	protein-coding gene	gene with protein product			"""thioesterase domain containing 1"""	THEDC1			Standard	NM_018324		Approved	FLJ11106, SAST	uc001inu.2	Q9NV23	OTTHUMG00000017724	ENST00000378228.3:c.174A>G	10.37:g.15103733A>G						OLAH_ENST00000378228.3_Silent_p.L58L	p.L111L	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN			5	520	+			58					Q5VUB6|Q9NUW1	Silent	SNP	ENST00000378228.3	37	c.333A>G	CCDS31152.1																																																																																				0.428	OLAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046964.1	NM_018324		14	39	0	0	0	1	0	14	39				
SYVN1	84447	broad.mit.edu	37	11	64900945	64900945	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr11:64900945A>C	ENST00000377190.3	-	2	222	c.128T>G	c.(127-129)aTg>aGg	p.M43R	SYVN1_ENST00000526060.1_Missense_Mutation_p.M43R|SYVN1_ENST00000526121.1_5'Flank|SYVN1_ENST00000294256.8_Missense_Mutation_p.M43R|SYVN1_ENST00000307289.6_Missense_Mutation_p.M43R	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	43					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|in utero embryonic development (GO:0001701)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						ACTCACTGCCATGCTGGGGCT	0.632																																						ENST00000526060.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(127-129)aTg>aGg		synovial apoptosis inhibitor 1, synoviolin							75.0	72.0	73.0					11																	64900945		2201	4297	6498	SO:0001583	missense	84447				ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr11:64900945A>C	AB085847	CCDS8097.1, CCDS31605.1	11q13	2013-01-09			ENSG00000162298	ENSG00000162298		"""RING-type (C3HC4) zinc fingers"""	20738	protein-coding gene	gene with protein product	"""HMG-coA reductase degradation 1 homolog (S. cerevisiae)"""	608046				12975321	Standard	NM_032431		Approved	HRD1, DER3	uc001odb.3	Q86TM6		ENST00000377190.3:c.128T>G	11.37:g.64900945A>C	ENSP00000366395:p.Met43Arg					SYVN1_ENST00000307289.6_Missense_Mutation_p.M43R|SYVN1_ENST00000294256.8_Missense_Mutation_p.M43R|SYVN1_ENST00000377190.3_Missense_Mutation_p.M43R	p.M43R			Q86TM6	SYVN1_HUMAN			2	320	-			43					Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	Missense_Mutation	SNP	ENST00000377190.3	37	c.128T>G	CCDS31605.1	.	.	.	.	.	.	.	.	.	.	A	18.40	3.615884	0.66672	.	.	ENSG00000162298	ENST00000377190;ENST00000294256;ENST00000434219;ENST00000307289;ENST00000526060;ENST00000528487	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	4.21	3.06	0.35304	.	0.000000	0.85682	D	0.000000	T	0.66607	0.2806	M	0.87180	2.865	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.997	D;D;D	0.70487	0.931;0.969;0.931	T	0.65368	-0.6185	10	0.34782	T	0.22	-19.8162	8.4422	0.32822	0.8255:0.0:0.0:0.1745	.	43;43;43	Q86TM6-2;Q86TM6-3;Q86TM6	.;.;SYVN1_HUMAN	R	43	ENSP00000366395:M43R;ENSP00000294256:M43R;ENSP00000302035:M43R;ENSP00000436984:M43R;ENSP00000431720:M43R	ENSP00000294256:M43R	M	-	2	0	SYVN1	64657521	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.565000	0.73974	0.751000	0.32900	0.533000	0.62120	ATG		0.632	SYVN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385274.1	NM_032431		7	110	0	0	0	1	0	7	110				
CEP85L	387119	broad.mit.edu	37	6	118790285	118790285	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr6:118790285T>C	ENST00000368491.3	-	12	2825	c.2204A>G	c.(2203-2205)cAg>cGg	p.Q735R	CEP85L_ENST00000368488.5_Missense_Mutation_p.Q738R	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	735						centrosome (GO:0005813)|cytoplasm (GO:0005737)											CTGAGCACGCTGATTAAGAAT	0.383																																						ENST00000368491.3																			0											c.(2203-2205)cAg>cGg		centrosomal protein 85kDa-like							97.0	95.0	96.0					6																	118790285		1991	4187	6178	SO:0001583	missense	387119					centrosome		g.chr6:118790285T>C	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 204"""	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.2204A>G	6.37:g.118790285T>C	ENSP00000357477:p.Gln735Arg					CEP85L_ENST00000368488.5_Missense_Mutation_p.Q738R	p.Q735R	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN			12	2825	-			735					A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Missense_Mutation	SNP	ENST00000368491.3	37	c.2204A>G	CCDS43498.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.953912	0.92660	.	.	ENSG00000111860	ENST00000368491;ENST00000368488	T;T	0.11930	2.73;2.73	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.20901	0.0503	M	0.72118	2.19	0.48087	D	0.999581	P	0.52316	0.952	P	0.53360	0.724	T	0.00472	-1.1719	10	0.49607	T	0.09	-12.0055	16.8222	0.85835	0.0:0.0:0.0:1.0	.	735	Q5SZL2	CF204_HUMAN	R	735;738	ENSP00000357477:Q735R;ENSP00000357474:Q738R	ENSP00000357474:Q738R	Q	-	2	0	C6orf204	118896978	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.938000	0.75904	2.371000	0.80710	0.533000	0.62120	CAG		0.383	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475		13	72	0	0	0	1	0	13	72				
HCN1	348980	broad.mit.edu	37	5	45645596	45645596	+	Silent	SNP	C	C	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr5:45645596C>T	ENST00000303230.4	-	2	597	c.540G>A	c.(538-540)gtG>gtA	p.V180V		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	180					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TATCTGATGCCACATTGAAAA	0.373																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(538-540)gtG>gtA		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							88.0	87.0	87.0					5																	45645596		2203	4300	6503	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45645596C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.540G>A	5.37:g.45645596C>T							p.V180V	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			2	597	-			180						Silent	SNP	ENST00000303230.4	37	c.540G>A	CCDS3952.1																																																																																				0.373	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		18	62	0	0	0	1	0	18	62				
DAO	1610	broad.mit.edu	37	12	109286790	109286790	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr12:109286790G>A	ENST00000228476.3	+	6	689	c.485G>A	c.(484-486)cGg>cAg	p.R162Q	DAO_ENST00000551281.1_Intron	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	162					cellular nitrogen compound metabolic process (GO:0034641)|D-alanine catabolic process (GO:0055130)|D-serine catabolic process (GO:0036088)|D-serine metabolic process (GO:0070178)|dopamine biosynthetic process (GO:0042416)|glyoxylate metabolic process (GO:0046487)|leucine metabolic process (GO:0006551)|proline catabolic process (GO:0006562)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-amino-acid oxidase activity (GO:0003884)|FAD binding (GO:0071949)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26					Flavin adenine dinucleotide(DB03147)	TTCTTCCAGCGGAAAGTGGAG	0.562																																						ENST00000228476.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						c.(484-486)cGg>cAg		D-amino-acid oxidase							187.0	151.0	163.0					12																	109286790		2203	4300	6503	SO:0001583	missense	1610				glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity	g.chr12:109286790G>A	D11370	CCDS9122.1	12q24.11	2013-09-20			ENSG00000110887	ENSG00000110887	1.4.3.3		2671	protein-coding gene	gene with protein product		124050				1356107, 8182053	Standard	NM_001917		Approved	DAMOX	uc001tnr.4	P14920	OTTHUMG00000169360	ENST00000228476.3:c.485G>A	12.37:g.109286790G>A	ENSP00000228476:p.Arg162Gln					DAO_ENST00000551281.1_Intron	p.R162Q	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN			6	689	+			162					B2R7I5|Q16758|Q8N6R2	Missense_Mutation	SNP	ENST00000228476.3	37	c.485G>A	CCDS9122.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.129978	0.56721	.	.	ENSG00000110887	ENST00000228476;ENST00000547768;ENST00000547166	T;T;T	0.81415	-1.49;-1.49;-1.49	5.82	1.89	0.25635	FAD dependent oxidoreductase (1);NAD(P)-binding domain (1);	0.392066	0.31936	N	0.006840	T	0.68026	0.2956	L	0.52759	1.655	0.35347	D	0.786972	P	0.45283	0.855	B	0.36186	0.219	T	0.67699	-0.5603	10	0.30078	T	0.28	-16.927	7.0962	0.25311	0.4402:0.0:0.5598:0.0	.	162	P14920	OXDA_HUMAN	Q	162;39;162	ENSP00000228476:R162Q;ENSP00000449967:R39Q;ENSP00000447104:R162Q	ENSP00000228476:R162Q	R	+	2	0	DAO	107810919	0.238000	0.23825	0.957000	0.39632	0.988000	0.76386	0.310000	0.19356	0.344000	0.23847	0.591000	0.81541	CGG		0.562	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403682.1			14	35	0	0	0	1	0	14	35				
DNAJC21	134218	broad.mit.edu	37	5	34954743	34954743	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr5:34954743C>G	ENST00000342382.4	+	12	1747	c.1520C>G	c.(1519-1521)gCa>gGa	p.A507G	DNAJC21_ENST00000303525.7_Missense_Mutation_p.A520G|DNAJC21_ENST00000382021.2_Missense_Mutation_p.A552G			Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	507					protein folding (GO:0006457)	ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			ACAGGTCATGCAAGAGCACCT	0.408																																						ENST00000382021.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1654-1656)gCa>gGa		DnaJ (Hsp40) homolog, subfamily C, member 21							113.0	107.0	109.0					5																	34954743		2203	4300	6503	SO:0001583	missense	134218				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding	g.chr5:34954743C>G		CCDS3907.2, CCDS34144.1	5p13-p12	2012-10-05			ENSG00000168724	ENSG00000168724		"""Heat shock proteins / DNAJ (HSP40)"""	27030	protein-coding gene	gene with protein product	"""JJJ1 DnaJ domain protein homolog (S. cerevisiae)"""					15067379	Standard	XM_005248250		Approved	GS3, DNAJA5, JJJ1	uc003jjc.3	Q5F1R6	OTTHUMG00000074103	ENST00000342382.4:c.1520C>G	5.37:g.34954743C>G	ENSP00000343728:p.Ala507Gly					DNAJC21_ENST00000342382.4_Missense_Mutation_p.A507G|DNAJC21_ENST00000303525.7_Missense_Mutation_p.A520G	p.A552G	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		13	1882	+	all_lung(31;7.08e-05)		507					Q3B7J9|Q6P086|Q6ZS43|Q86VC6	Missense_Mutation	SNP	ENST00000342382.4	37	c.1655C>G	CCDS34144.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.522194	0.85600	.	.	ENSG00000168724	ENST00000342382;ENST00000382021;ENST00000303525	T;T;T	0.43688	0.94;0.94;0.94	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.66036	0.2749	M	0.66378	2.025	0.80722	D	1	P;D	0.71674	0.64;0.998	B;D	0.80764	0.339;0.994	T	0.63950	-0.6521	10	0.59425	D	0.04	-25.2092	20.6439	0.99570	0.0:1.0:0.0:0.0	.	507;552	Q5F1R6;Q5F1R6-2	DJC21_HUMAN;.	G	507;552;520	ENSP00000343728:A507G;ENSP00000371451:A552G;ENSP00000306289:A520G	ENSP00000306289:A520G	A	+	2	0	DNAJC21	34990500	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.557000	0.73937	2.890000	0.99128	0.650000	0.86243	GCA		0.408	DNAJC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157337.1	NM_194283		12	75	0	0	0	1	0	12	75				
BRPF1	7862	broad.mit.edu	37	3	9776015	9776015	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:9776015A>G	ENST00000457855.1	+	1	202	c.191A>G	c.(190-192)aAg>aGg	p.K64R	BRPF1_ENST00000424362.1_Missense_Mutation_p.K64R|BRPF1_ENST00000302054.3_Missense_Mutation_p.K64R|BRPF1_ENST00000383829.2_Missense_Mutation_p.K64R|BRPF1_ENST00000433861.2_Missense_Mutation_p.K64R			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	64	Interaction with KAT6A and KAT6B.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CACAAGAAAAAGGGGCGCCAG	0.572																																						ENST00000383829.2																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(190-192)aAg>aGg		bromodomain and PHD finger containing, 1							183.0	210.0	201.0					3																	9776015		2203	4300	6503	SO:0001583	missense	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9776015A>G	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.191A>G	3.37:g.9776015A>G	ENSP00000410210:p.Lys64Arg					BRPF1_ENST00000302054.3_Missense_Mutation_p.K64R|BRPF1_ENST00000433861.2_Missense_Mutation_p.K64R|BRPF1_ENST00000424362.1_Missense_Mutation_p.K64R|BRPF1_ENST00000457855.1_Missense_Mutation_p.K64R	p.K64R	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN			2	595	+	Medulloblastoma(99;0.227)		64			Interaction with MYST3 and MYST4.		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	c.191A>G	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	A	16.76	3.211859	0.58452	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000420291;ENST00000426583;ENST00000457855	T;T;T;T;T;T	0.49432	2.16;2.16;3.56;2.16;0.78;2.16	5.73	5.73	0.89815	.	0.051762	0.85682	D	0.000000	T	0.60612	0.2282	L	0.44542	1.39	0.58432	D	0.999993	B;B;B;D	0.69078	0.313;0.28;0.347;0.997	B;B;B;D	0.75020	0.269;0.082;0.146;0.985	T	0.59685	-0.7408	10	0.44086	T	0.13	.	14.9941	0.71415	1.0:0.0:0.0:0.0	.	64;64;64;64	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	R	64	ENSP00000402485:K64R;ENSP00000398863:K64R;ENSP00000373340:K64R;ENSP00000306297:K64R;ENSP00000404235:K64R;ENSP00000410210:K64R	ENSP00000306297:K64R	K	+	2	0	BRPF1	9751015	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.102000	0.77005	2.187000	0.69744	0.460000	0.39030	AAG		0.572	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		3	172	0	0	0	1	0	3	172				
CTNNB1	1499	broad.mit.edu	37	3	41266124	41266124	+	Missense_Mutation	SNP	A	A	G	rs121913412		TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:41266124A>G	ENST00000349496.5	+	3	401	c.121A>G	c.(121-123)Acc>Gcc	p.T41A	CTNNB1_ENST00000396183.3_Missense_Mutation_p.T41A|CTNNB1_ENST00000396185.3_Missense_Mutation_p.T41A|CTNNB1_ENST00000405570.1_Missense_Mutation_p.T41A|CTNNB1_ENST00000453024.1_Missense_Mutation_p.T34A	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	41			T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes). {ECO:0000269|PubMed:10391090, ECO:0000269|PubMed:10398436, ECO:0000269|PubMed:10435629, ECO:0000269|PubMed:10655994, ECO:0000269|PubMed:9927029}.|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10391090, ECO:0000269|PubMed:10435629}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.T41A(550)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.T41P(6)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T41S(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.T40_L46del(1)|p.A20_N141del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_T41del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.A39_T42del(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TGGTGCCACTACCACAGCTCC	0.507	T41A(CCK81_LARGE_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5	T41A(CCK81_LARGE_INTESTINE)	15		Dom	yes		3	3p22-p21.3	1499	"""H, Mis, T"""	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""	CTNNB1/PLAG1(60)	681	Substitution - Missense(559)|Deletion - In frame(96)|Complex - deletion inframe(17)|Unknown(7)|Deletion - Frameshift(2)	p.T41A(550)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.T41P(6)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T41S(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.T40_L46del(1)|p.A20_N141del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_T41del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.A39_T42del(1)|p.Y30_A80del(1)	soft_tissue(387)|liver(158)|large_intestine(61)|endometrium(17)|kidney(11)|stomach(8)|biliary_tract(7)|ovary(6)|small_intestine(4)|lung(4)|prostate(4)|adrenal_gland(3)|haematopoietic_and_lymphoid_tissue(3)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|salivary_gland(1)|pituitary(1)|pancreas(1)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(121-123)Acc>Gcc		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						89.0	77.0	81.0					3																	41266124		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41266124A>G	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.121A>G	3.37:g.41266124A>G	ENSP00000344456:p.Thr41Ala					CTNNB1_ENST00000405570.1_Missense_Mutation_p.T41A|CTNNB1_ENST00000396183.3_Missense_Mutation_p.T41A|CTNNB1_ENST00000453024.1_Missense_Mutation_p.T34A|CTNNB1_ENST00000396185.3_Missense_Mutation_p.T41A	p.T41A	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	3	401	+			41		T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes).|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer).			A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.121A>G	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.449381	0.84101	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.63117	0.2484	M	0.79258	2.445	0.80722	D	1	P	0.50943	0.94	P	0.52267	0.694	T	0.68561	-0.5376	10	0.87932	D	0	-8.9189	16.3453	0.83126	1.0:0.0:0.0:0.0	.	41	P35222	CTNB1_HUMAN	A	34;41;41;41;41;34;41;41;41	ENSP00000400508:T34A;ENSP00000385604:T41A;ENSP00000412219:T41A;ENSP00000379486:T41A;ENSP00000344456:T41A;ENSP00000411226:T34A;ENSP00000379488:T41A;ENSP00000409302:T41A;ENSP00000401599:T41A	ENSP00000344456:T41A	T	+	1	0	CTNNB1	41241128	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	9.339000	0.96797	2.261000	0.74972	0.533000	0.62120	ACC		0.507	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		4	40	0	0	0	1	0	4	40				
BAGE2	85319	broad.mit.edu	37	21	11039298	11039298	+	RNA	SNP	C	C	T	rs3888470	byFrequency	TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr21:11039298C>T	ENST00000470054.1	-	0	905							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGTGTAACGACTTCAATGTTT	0.388																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11039298C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11039298C>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	905	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.388	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		12	252	0	0	0	1	0	12	252				
FOLH1B	219595	broad.mit.edu	37	11	89392753	89392753	+	RNA	SNP	A	A	C	rs533581140	byFrequency	TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr11:89392753A>C	ENST00000532352.1	+	0	576							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTCTCTACTCAGACCCTGCTG	0.453													A|||	87	0.0173722	0.0333	0.0115	5008	,	,		16636	0.0099		0.007	False		,,,				2504	0.0184					ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B																																						219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89392753A>C	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89392753A>C										Q9HBA9	FOH1B_HUMAN			0	576	+									RNA	SNP	ENST00000532352.1	37																																																																																						0.453	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		3	67	0	0	0	1	0	3	67				
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs200114728	byFrequency	TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr19:53856702G>A	ENST00000595091.1	+	5	2993	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000458035.1_Missense_Mutation_p.R925H			Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363													.|||	267	0.0533147	0.0484	0.0562	5008	,	,		21751	0.0466		0.0915	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - Missense(3)	p.R925H(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2773-2775)cGt>cAt		zinc finger protein 845							33.0	30.0	31.0					19																	53856702		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856702G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2774G>A	19.37:g.53856702G>A	ENSP00000470005:p.Arg925His					ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2891	+			925						Missense_Mutation	SNP	ENST00000595091.1	37	c.2774G>A	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	5.812	0.334080	0.11013	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.36157	1.27	2.0	-4.0	0.04057	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42585	0.1209	L	0.58302	1.8	0.09310	N	1	D	0.55800	0.973	P	0.53760	0.734	T	0.43925	-0.9361	9	0.51188	T	0.08	.	10.7803	0.46374	0.0:0.6804:0.1821:0.1375	.	925	Q96IR2	ZN845_HUMAN	H	925;841	ENSP00000388311:R925H	ENSP00000412086:R841H	R	+	2	0	ZNF845	58548514	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.662000	0.00032	-1.603000	0.01597	-0.499000	0.04595	CGT		0.363	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		4	48	0	0	0	1	0	4	48				
FRG1B	284802	broad.mit.edu	37	20	29632680	29632680	+	Silent	SNP	G	G	A	rs4892355		TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr20:29632680G>A	ENST00000278882.3	+	8	875	c.495G>A	c.(493-495)aaG>aaA	p.K165K	FRG1B_ENST00000358464.4_Silent_p.K165K			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	165										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TTCTTAAAAAGGCTCAGAAAG	0.313																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(493-495)aaG>aaA																																						SO:0001819	synonymous_variant	0							g.chr20:29632680G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.495G>A	20.37:g.29632680G>A						FRG1B_ENST00000358464.4_Silent_p.K165K	p.K165K							8	875	+								C4AME5	Silent	SNP	ENST00000278882.3	37	c.495G>A																																																																																					0.313	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		14	546	0	0	0	1	0	14	546				
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000423725.1_5'Flank|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|SNORD51_ENST00000384320.2_RNA|SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000455934.2_5'Flank|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000233190.6_5'Flank|NDUFS1_ENST00000449699.1_5'Flank|NDUFS1_ENST00000432169.1_5'Flank	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468																																						ENST00000392222.2																			4	Substitution - Missense(4)	p.S43G(4)	endometrium(2)|lung(1)|kidney(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(127-129)Agc>Ggc		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025358		2203	4300	6503	SO:0001583	missense	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025358A>G	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.127A>G	2.37:g.207025358A>G	ENSP00000376056:p.Ser43Gly					EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G	p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN			2	502	+			43			GST C-terminal.		A8K795|Q6IBH9	Missense_Mutation	SNP	ENST00000392222.2	37	c.127A>G	CCDS2367.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.585588	0.00872	.	.	ENSG00000114942	ENST00000236957;ENST00000392221;ENST00000392222;ENST00000445505	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.47	0.911	0.19343	Glutathione S-transferase, C-terminal-like (2);	0.442134	0.26800	N	0.022437	T	0.19846	0.0477	N	0.16098	0.37	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18745	-1.0327	10	0.17832	T	0.49	-2.1703	6.3337	0.21285	0.2348:0.0:0.6384:0.1268	.	43	P24534	EF1B_HUMAN	G	43	ENSP00000236957:S43G;ENSP00000376055:S43G;ENSP00000376056:S43G;ENSP00000407730:S43G	ENSP00000236957:S43G	S	+	1	0	EEF1B2	206733603	0.049000	0.20398	0.145000	0.22337	0.051000	0.14879	0.879000	0.28146	-0.027000	0.13873	-0.252000	0.11476	AGC		0.468	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		4	125	0	0	0	1	0	4	125				
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	byFrequency	TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	41								p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A41T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(121-123)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29625877G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.121G>A	20.37:g.29625877G>A	ENSP00000278882:p.Ala41Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T	p.A41T							5	501	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.121G>A		.	.	.	.	.	.	.	.	.	.	g	8.740	0.918766	0.17982	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62498	0.02	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.52099	D	0.999942	B	0.24186	0.099	B	0.27715	0.082	T	0.43956	-0.9359	9	0.33940	T	0.23	.	9.3557	0.38164	0.0:0.0:1.0:0.0	rs7266938;rs7266938	46	F5H5R5	.	T	41;46;41	ENSP00000408863:A46T	ENSP00000278882:A41T	A	+	1	0	FRG1B	28239538	1.000000	0.71417	0.993000	0.49108	0.033000	0.12548	5.232000	0.65332	1.250000	0.43966	0.184000	0.17185	GCC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	58	0	0	0	1	0	4	58				
HCN1	348980	broad.mit.edu	37	5	45645595	45645595	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr5:45645595C>A	ENST00000303230.4	-	2	598	c.541G>T	c.(541-543)Gca>Tca	p.A181S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	181					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GTATCTGATGCCACATTGAAA	0.373																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(541-543)Gca>Tca		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							88.0	87.0	87.0					5																	45645595		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45645595C>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.541G>T	5.37:g.45645595C>A	ENSP00000307342:p.Ala181Ser						p.A181S	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			2	598	-			181						Missense_Mutation	SNP	ENST00000303230.4	37	c.541G>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.083997	0.55861	.	.	ENSG00000164588	ENST00000303230	D	0.98550	-4.99	5.37	5.37	0.77165	Ion transport (1);	0.000000	0.64402	D	0.000018	D	0.96525	0.8866	L	0.41573	1.285	0.53688	D	0.999977	B	0.02656	0.0	B	0.16722	0.016	D	0.93552	0.6887	10	0.52906	T	0.07	.	19.1028	0.93281	0.0:1.0:0.0:0.0	.	181	O60741	HCN1_HUMAN	S	181	ENSP00000307342:A181S	ENSP00000307342:A181S	A	-	1	0	HCN1	45681352	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.920000	0.70017	2.520000	0.84964	0.555000	0.69702	GCA		0.373	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		19	61	1	0	1.90627e-21	1	2.09689e-21	19	61				
FRG1B	284802	broad.mit.edu	37	20	29628251	29628251	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr20:29628251A>G	ENST00000278882.3	+	6	633	c.253A>G	c.(253-255)Aat>Gat	p.N85D	FRG1B_ENST00000358464.4_Missense_Mutation_p.N85D|FRG1B_ENST00000439954.2_Missense_Mutation_p.N90D			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	85								p.N85D(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTTGGCCTCAAATAGCTGCTT	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.N85D(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(253-255)Aat>Gat																																						SO:0001583	missense	0							g.chr20:29628251A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.253A>G	20.37:g.29628251A>G	ENSP00000278882:p.Asn85Asp					FRG1B_ENST00000439954.2_Missense_Mutation_p.N90D|FRG1B_ENST00000358464.4_Missense_Mutation_p.N85D	p.N85D							6	633	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.253A>G		.	.	.	.	.	.	.	.	.	.	a	15.78	2.933773	0.52866	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.000000	0.85682	D	0.000000	T	0.46619	0.1402	.	.	.	0.45390	D	0.998378	B;B	0.26809	0.086;0.16	B;B	0.40329	0.326;0.253	T	0.51553	-0.8691	9	0.66056	D	0.02	.	8.0833	0.30758	1.0:0.0:0.0:0.0	.	90;85	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	D	85;90;85	ENSP00000408863:N90D	ENSP00000278882:N85D	N	+	1	0	FRG1B	28241912	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	8.047000	0.89440	1.208000	0.43306	0.347000	0.21830	AAT		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		10	150	0	0	0	1	0	10	150				
VILL	50853	broad.mit.edu	37	3	38047428	38047428	+	Missense_Mutation	SNP	T	T	C	rs142814627		TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:38047428T>C	ENST00000283713.6	+	17	2362	c.2096T>C	c.(2095-2097)aTt>aCt	p.I699T	VILL_ENST00000383759.2_Missense_Mutation_p.I699T|VILL_ENST00000465644.1_Missense_Mutation_p.I417T			O15195	VILL_HUMAN	villin-like	699					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CCCACCTTCATTGGATGGTTC	0.612													T|||	1	0.000199681	0.0	0.0014	5008	,	,		19700	0.0		0.0	False		,,,				2504	0.0					ENST00000283713.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28						c.(2095-2097)aTt>aCt		villin-like		T	THR/ILE	0,4406		0,0,2203	95.0	92.0	93.0		2096	2.5	0.6	3	dbSNP_134	93	8,8592	6.4+/-24.3	0,8,4292	yes	missense	VILL	NM_015873.3	89	0,8,6495	CC,CT,TT		0.093,0.0,0.0615	benign	699/857	38047428	8,12998	2203	4300	6503	SO:0001583	missense	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38047428T>C		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.2096T>C	3.37:g.38047428T>C	ENSP00000283713:p.Ile699Thr					VILL_ENST00000465644.1_Missense_Mutation_p.I417T|VILL_ENST00000383759.2_Missense_Mutation_p.I699T	p.I699T			O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	17	2362	+			699					A8MZP1|Q9BT80|Q9BWH7	Missense_Mutation	SNP	ENST00000283713.6	37	c.2096T>C	CCDS2670.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	T	1.463	-0.561859	0.03939	0.0	9.3E-4	ENSG00000136059	ENST00000283713;ENST00000383759;ENST00000356246;ENST00000465644	T;T;T	0.56444	0.46;0.46;0.46	4.26	2.45	0.29901	Gelsolin domain (1);	0.160595	0.53938	N	0.000041	T	0.15782	0.0380	N	0.00563	-1.375	0.22675	N	0.998865	B	0.02656	0.0	B	0.01281	0.0	T	0.35351	-0.9792	10	0.02654	T	1	-1.6107	10.3836	0.44125	0.0:0.8337:0.0:0.1663	.	699	O15195	VILL_HUMAN	T	699;699;685;417	ENSP00000283713:I699T;ENSP00000373266:I699T;ENSP00000422096:I417T	ENSP00000283713:I699T	I	+	2	0	VILL	38022432	0.998000	0.40836	0.612000	0.29024	0.791000	0.44710	3.994000	0.56994	0.380000	0.24823	-0.414000	0.06135	ATT		0.612	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		47	88	0	0	0	1	0	47	88				
TBX3	6926	broad.mit.edu	37	12	115109860	115109860	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr12:115109860T>C	ENST00000257566.3	-	8	2407	c.2018A>G	c.(2017-2019)aAa>aGa	p.K673R	TBX3_ENST00000349155.2_Missense_Mutation_p.K653R	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	673	Transcription repression.				anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GGCGGCGACTTTGCCGTCCAG	0.716																																						ENST00000349155.2																			0				breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1957-1959)aAa>aGa		T-box 3							8.0	9.0	9.0					12																	115109860		2114	4124	6238	SO:0001583	missense	6926				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	g.chr12:115109860T>C	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.2018A>G	12.37:g.115109860T>C	ENSP00000257566:p.Lys673Arg					TBX3_ENST00000257566.3_Missense_Mutation_p.K673R	p.K653R	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	7	2921	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		673			Transcription repression.		Q8TB20|Q9UKF8	Missense_Mutation	SNP	ENST00000257566.3	37	c.1958A>G	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	T	12.57	1.977516	0.34848	.	.	ENSG00000135111	ENST00000349155;ENST00000257566	D;D	0.88664	-2.4;-2.41	4.93	4.93	0.64822	.	2.540680	0.00945	N	0.002898	D	0.92371	0.7579	L	0.33485	1.01	0.49389	D	0.999787	B;D	0.63880	0.328;0.993	B;D	0.70935	0.124;0.971	T	0.80582	-0.1318	10	0.30078	T	0.28	.	13.7594	0.62956	0.0:0.0:0.0:1.0	.	653;673	O15119-2;O15119	.;TBX3_HUMAN	R	653;673	ENSP00000257567:K653R;ENSP00000257566:K673R	ENSP00000257566:K673R	K	-	2	0	TBX3	113594243	1.000000	0.71417	0.993000	0.49108	0.354000	0.29330	4.438000	0.59961	1.856000	0.53863	0.533000	0.62120	AAA		0.716	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		3	4	0	0	0	1	0	3	4				
MED12L	116931	broad.mit.edu	37	3	151067883	151067883	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:151067883A>G	ENST00000474524.1	+	15	2220	c.2182A>G	c.(2182-2184)Atc>Gtc	p.I728V	MED12L_ENST00000273432.4_Missense_Mutation_p.I588V|MED12L_ENST00000491549.1_3'UTR|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	728						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCAGCGCACAATCCTTCTCTA	0.423																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(2182-2184)Atc>Gtc		mediator complex subunit 12-like							227.0	233.0	231.0					3																	151067883		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151067883A>G	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.2182A>G	3.37:g.151067883A>G	ENSP00000417235:p.Ile728Val					MED12L_ENST00000491549.1_3'UTR|P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.I588V	p.I728V	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		15	2220	+			728					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.2182A>G	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	A	3.397	-0.123005	0.06795	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.30981	1.51;1.51	5.81	3.45	0.39498	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.121286	0.56097	N	0.000022	T	0.11452	0.0279	N	0.03930	-0.32	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.15484	0.013;0.005	T	0.11717	-1.0576	10	0.08837	T	0.75	-13.2209	8.2534	0.31739	0.7823:0.0:0.2177:0.0	.	588;728	F8WAE6;Q86YW9	.;MD12L_HUMAN	V	728;588	ENSP00000417235:I728V;ENSP00000273432:I588V	ENSP00000273432:I588V	I	+	1	0	MED12L	152550573	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.901000	0.56303	0.475000	0.27415	0.455000	0.32223	ATC		0.423	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		88	205	0	0	0	1	0	88	205				
UNC80	285175	broad.mit.edu	37	2	210654289	210654289	+	Missense_Mutation	SNP	G	G	A	rs547993640		TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr2:210654289G>A	ENST00000439458.1	+	6	838	c.758G>A	c.(757-759)cGg>cAg	p.R253Q	UNC80_ENST00000272845.6_Missense_Mutation_p.R253Q|UNC80_ENST00000478701.1_3'UTR	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	253					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R253Q(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						AGTCAAAGCCGGACCTGTGAA	0.368																																						ENST00000439458.1																			1	Substitution - Missense(1)	p.R253Q(1)	ovary(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						c.(757-759)cGg>cAg		unc-80 homolog (C. elegans)							111.0	117.0	115.0					2																	210654289		2203	4300	6503	SO:0001583	missense	285175					integral to membrane		g.chr2:210654289G>A	AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.758G>A	2.37:g.210654289G>A	ENSP00000391088:p.Arg253Gln					UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.5_Missense_Mutation_p.R253Q	p.R253Q	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN			6	838	+			253					B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Missense_Mutation	SNP	ENST00000439458.1	37	c.758G>A	CCDS46504.1	.	.	.	.	.	.	.	.	.	.	g	0.852	-0.738409	0.03111	.	.	ENSG00000144406	ENST00000439458;ENST00000281753;ENST00000272845	T;T	0.28255	1.62;1.62	5.29	2.81	0.32909	.	0.508541	0.19936	N	0.102755	T	0.07999	0.0200	N	0.00707	-1.245	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34354	-0.9832	10	0.02654	T	1	.	10.9522	0.47336	0.9061:0.0:0.0939:0.0	.	253;253	Q8N2C7;Q8N2C7-3	UNC80_HUMAN;.	Q	253	ENSP00000391088:R253Q;ENSP00000272845:R253Q	ENSP00000272845:R253Q	R	+	2	0	UNC80	210362534	0.866000	0.29940	1.000000	0.80357	0.333000	0.28666	1.090000	0.30902	0.283000	0.22279	-0.320000	0.08662	CGG		0.368	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_182587		11	117	0	0	0	1	0	11	117				
CERS4	79603	broad.mit.edu	37	19	8321856	8321856	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr19:8321856C>G	ENST00000251363.5	+	9	936	c.636C>G	c.(634-636)caC>caG	p.H212Q	CERS4_ENST00000559450.1_Missense_Mutation_p.H212Q|CERS4_ENST00000558331.1_Missense_Mutation_p.H161Q|CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000559336.1_Missense_Mutation_p.H212Q	NM_024552.2	NP_078828.2	Q9HA82	CERS4_HUMAN	ceramide synthase 4	212	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										AGGTGATACACCACTTCGTGG	0.567																																						ENST00000558331.1																			0											c.(481-483)caC>caG		ceramide synthase 4							268.0	256.0	260.0					19																	8321856		2203	4300	6503	SO:0001583	missense	79603					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr19:8321856C>G		CCDS12197.1	19p13.2	2014-09-11	2011-07-08	2011-07-08	ENSG00000090661	ENSG00000090661		"""Homeoboxes / CERS class"""	23747	protein-coding gene	gene with protein product		615334	"""LAG1 longevity assurance homolog 4 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 4"""	LASS4			Standard	NM_024552		Approved	FLJ12089, Trh1	uc002mjg.3	Q9HA82	OTTHUMG00000172570	ENST00000251363.5:c.636C>G	19.37:g.8321856C>G	ENSP00000251363:p.His212Gln					CERS4_ENST00000251363.5_Missense_Mutation_p.H212Q|CERS4_ENST00000559450.1_Missense_Mutation_p.H212Q|CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000559336.1_Missense_Mutation_p.H212Q	p.H161Q			Q9HA82	CERS4_HUMAN			9	942	+			212			TLC.		D6W665	Missense_Mutation	SNP	ENST00000251363.5	37	c.483C>G	CCDS12197.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040125	0.35989	.	.	ENSG00000090661	ENST00000251363	D	0.95622	-3.76	4.92	-2.73	0.05950	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.85682	D	0.000000	D	0.98005	0.9343	H	0.97491	4.015	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96656	0.9485	10	0.87932	D	0	-31.6962	10.3149	0.43732	0.0:0.4639:0.0:0.5361	.	212;212	Q53HF9;Q9HA82	.;CERS4_HUMAN	Q	212	ENSP00000251363:H212Q	ENSP00000251363:H212Q	H	+	3	2	CERS4	8227856	0.115000	0.22152	0.362000	0.25862	0.015000	0.08874	-0.628000	0.05515	-0.517000	0.06461	-0.415000	0.06103	CAC		0.567	CERS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419200.1	NM_024552		14	423	0	0	0	1	0	14	423				
ELOVL6	79071	broad.mit.edu	37	4	110972797	110972797	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr4:110972797C>T	ENST00000394607.3	-	5	658	c.495G>A	c.(493-495)tgG>tgA	p.W165*	ELOVL6_ENST00000302274.3_Nonsense_Mutation_p.W165*			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	165					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty acid biosynthetic process (GO:0042759)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		TAGTCATGAACCAACCTCCCC	0.522																																						ENST00000394607.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(493-495)tgG>tgA		ELOVL fatty acid elongase 6							68.0	60.0	63.0					4																	110972797		2203	4300	6503	SO:0001587	stop_gained	79071				fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding	g.chr4:110972797C>T	AK027031	CCDS3690.1	4q25	2011-05-25	2011-05-25		ENSG00000170522	ENSG00000170522			15829	protein-coding gene	gene with protein product		611546	"""ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"""			11567032	Standard	NM_024090		Approved	FLJ23378, MGC5487, LCE	uc003hzz.3	Q9H5J4	OTTHUMG00000132547	ENST00000394607.3:c.495G>A	4.37:g.110972797C>T	ENSP00000378105:p.Trp165*					ELOVL6_ENST00000302274.3_Nonsense_Mutation_p.W165*	p.W165*			Q9H5J4	ELOV6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00462)	5	658	-			165					Q4W5L0|Q8NCD1	Nonsense_Mutation	SNP	ENST00000394607.3	37	c.495G>A	CCDS3690.1	.	.	.	.	.	.	.	.	.	.	C	34	5.396878	0.96009	.	.	ENSG00000170522	ENST00000394607;ENST00000302274	.	.	.	5.97	5.12	0.69794	.	0.205916	0.53938	D	0.000044	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.053	16.5667	0.84600	0.1316:0.8684:0.0:0.0	.	.	.	.	X	165	.	ENSP00000304736:W165X	W	-	3	0	ELOVL6	111192246	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.770000	0.85390	1.497000	0.48584	0.655000	0.94253	TGG		0.522	ELOVL6-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255748.1	NM_024090		18	54	0	0	0	1	0	18	54				
FAM21C	253725	broad.mit.edu	37	10	46261197	46261197	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr10:46261197C>T	ENST00000336378.4	+	19	1926	c.1808C>T	c.(1807-1809)gCa>gTa	p.A603V	FAM21C_ENST00000359860.4_Missense_Mutation_p.A547V|FAM21C_ENST00000540872.1_Missense_Mutation_p.A603V|FAM21C_ENST00000537517.1_Missense_Mutation_p.A579V|FAM21C_ENST00000374362.2_Missense_Mutation_p.A603V	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	603					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GAAGAGAAAGCAAAAGCCTCC	0.443																																						ENST00000336378.4																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(1807-1809)gCa>gTa		family with sequence similarity 21, member C							104.0	102.0	103.0					10																	46261197		1815	4071	5886	SO:0001583	missense	253725							g.chr10:46261197C>T		CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.1808C>T	10.37:g.46261197C>T	ENSP00000337541:p.Ala603Val					FAM21C_ENST00000374362.2_Missense_Mutation_p.A603V|FAM21C_ENST00000540872.1_Missense_Mutation_p.A603V|FAM21C_ENST00000537517.1_Missense_Mutation_p.A579V|FAM21C_ENST00000359860.4_Missense_Mutation_p.A547V	p.A603V	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN			19	1926	+			603					B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Missense_Mutation	SNP	ENST00000336378.4	37	c.1808C>T		.	.	.	.	.	.	.	.	.	.	C	8.784	0.929062	0.18131	.	.	ENSG00000172661	ENST00000336378;ENST00000540872;ENST00000537517;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000436993	.	.	.	3.18	3.18	0.36537	.	0.426666	0.25358	N	0.031246	T	0.51856	0.1699	M	0.76574	2.34	0.35122	D	0.767184	B;B;B;P	0.43662	0.161;0.088;0.088;0.814	B;B;B;B	0.42214	0.116;0.029;0.029;0.38	T	0.64863	-0.6307	9	0.36615	T	0.2	-2.7848	10.06	0.42268	0.0:1.0:0.0:0.0	.	579;603;603;548	F5H871;Q9Y4E1-4;Q9Y4E1;Q9Y4E1-3	.;.;FA21C_HUMAN;.	V	603;603;579;603;603;547;515	.	ENSP00000337541:A603V	A	+	2	0	FAM21C	45581203	0.990000	0.36364	0.867000	0.34043	0.507000	0.33981	1.376000	0.34306	1.797000	0.52628	0.494000	0.49563	GCA		0.443	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				15	92	0	0	0	1	0	15	92				
IL4	3565	broad.mit.edu	37	5	132010172	132010172	+	Missense_Mutation	SNP	G	G	A	rs56279116	byFrequency	TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr5:132010172G>A	ENST00000231449.2	+	2	222	c.157G>A	c.(157-159)Gta>Ata	p.V53I	IL4_ENST00000350025.2_Intron|IL4_ENST00000495905.1_3'UTR	NM_000589.3	NP_000580.1	P05112	IL4_HUMAN	interleukin 4	53					B cell costimulation (GO:0031296)|B cell differentiation (GO:0030183)|cellular defense response (GO:0006968)|cellular response to mercury ion (GO:0071288)|chemotaxis (GO:0006935)|cholesterol metabolic process (GO:0008203)|connective tissue growth factor biosynthetic process (GO:0045189)|defense response to protozoan (GO:0042832)|dendritic cell differentiation (GO:0097028)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|female pregnancy (GO:0007565)|immune response (GO:0006955)|innate immune response in mucosa (GO:0002227)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chronic inflammatory response (GO:0002677)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of macrophage activation (GO:0043031)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of T-helper 17 cell differentiation (GO:2000320)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of immune response (GO:0050776)|regulation of isotype switching (GO:0045191)|regulation of phosphorylation (GO:0042325)|regulation of proton transport (GO:0010155)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|T-helper 1 cell lineage commitment (GO:0002296)|T-helper 2 cell cytokine production (GO:0035745)|T-helper 2 cell differentiation (GO:0045064)|type 2 immune response (GO:0042092)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|interleukin-4 receptor binding (GO:0005136)			NS(1)|large_intestine(3)|lung(3)|prostate(1)	8		all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.00245)		CGAGTTGACCGTAACAGACAT	0.498													G|||	7	0.00139776	0.0008	0.0	5008	,	,		20842	0.005		0.0	False		,,,				2504	0.001					ENST00000231449.2																			0				NS(1)|large_intestine(3)|lung(3)|prostate(1)	8						c.(157-159)Gta>Ata		interleukin 4							145.0	129.0	134.0					5																	132010172		2203	4300	6503	SO:0001583	missense	3565				B cell differentiation|cellular defense response|chemotaxis|cholesterol metabolic process|connective tissue growth factor biosynthetic process|negative regulation of apoptosis|negative regulation of osteoclast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of interleukin-13 production|positive regulation of isotype switching to IgE isotypes|positive regulation of isotype switching to IgG isotypes|positive regulation of MHC class II biosynthetic process|positive regulation of T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|T-helper 2 cell cytokine production	extracellular space	cytokine activity|growth factor activity|interleukin-4 receptor binding	g.chr5:132010172G>A	M23442	CCDS4158.1, CCDS4159.1	5q23-q31	2011-07-14			ENSG00000113520	ENSG00000113520		"""Interleukins and interleukin receptors"""	6014	protein-coding gene	gene with protein product	"""B_cell stimulatory factor 1"", ""lymphocyte stimulatory factor 1"", ""B cell growth factor 1"""	147780				3016727	Standard	NM_000589		Approved	BSF1, IL-4, BCGF1, BCGF-1, MGC79402	uc003kxk.2	P05112	OTTHUMG00000059724	ENST00000231449.2:c.157G>A	5.37:g.132010172G>A	ENSP00000231449:p.Val53Ile					IL4_ENST00000350025.2_Intron|IL4_ENST00000495905.1_3'UTR	p.V53I	NM_000589.3	NP_000580.1	P05112	IL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.00245)	2	222	+		all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198)	53					Q14630|Q6NZ77	Missense_Mutation	SNP	ENST00000231449.2	37	c.157G>A	CCDS4158.1	5	0.0022893772893772895	1	0.0020325203252032522	0	0.0	4	0.006993006993006993	0	0.0	G	10.61	1.397483	0.25205	.	.	ENSG00000113520	ENST00000231449	T	0.57273	0.41	5.57	1.69	0.24217	Four-helical cytokine-like, core (1);Interleukin-4/interleukin-13, conserved site (1);Four-helical cytokine, core (1);	0.309039	0.23491	N	0.047615	T	0.26376	0.0644	N	0.17345	0.48	0.22213	N	0.999286	B	0.20052	0.041	B	0.23419	0.046	T	0.17379	-1.0371	10	0.42905	T	0.14	-9.9053	9.418	0.38534	0.2775:0.0:0.7225:0.0	rs56279116	53	P05112	IL4_HUMAN	I	53	ENSP00000231449:V53I	ENSP00000231449:V53I	V	+	1	0	IL4	132038071	0.039000	0.19947	0.000000	0.03702	0.000000	0.00434	0.745000	0.26259	0.025000	0.15241	-0.940000	0.02684	GTA		0.498	IL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132786.1	NM_000589		3	101	0	0	0	1	0	3	101				
FBXO38	81545	broad.mit.edu	37	5	147781990	147781990	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr5:147781990G>A	ENST00000340253.5	+	5	674	c.506G>A	c.(505-507)cGt>cAt	p.R169H	FBXO38_ENST00000296701.6_Missense_Mutation_p.R169H|FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000513826.1_Missense_Mutation_p.R169H|FBXO38_ENST00000394370.3_Missense_Mutation_p.R169H			Q6PIJ6	FBX38_HUMAN	F-box protein 38	169					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R169H(1)	ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAAATTTCGTAATCGTAAT	0.353																																						ENST00000340253.5																		ATG4C/FBXO38(2)	1	Substitution - Missense(1)	p.R169H(1)	breast(1)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51						c.(505-507)cGt>cAt		F-box protein 38							131.0	131.0	131.0					5																	147781990		2203	4300	6503	SO:0001583	missense	81545					cytoplasm|nucleus		g.chr5:147781990G>A	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.506G>A	5.37:g.147781990G>A	ENSP00000342023:p.Arg169His					FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000513826.1_Missense_Mutation_p.R169H|FBXO38_ENST00000296701.6_Missense_Mutation_p.R169H|FBXO38_ENST00000394370.3_Missense_Mutation_p.R169H	p.R169H			Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	674	+			169					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	ENST00000340253.5	37	c.506G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.666486	0.96745	.	.	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	T;T;T;T	0.38077	1.16;5.48;1.17;5.48	5.76	5.76	0.90799	.	0.054297	0.64402	D	0.000001	T	0.47581	0.1453	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.997	D;P;P	0.62955	0.909;0.809;0.799	T	0.44697	-0.9311	10	0.72032	D	0.01	-15.2077	18.8946	0.92419	0.0:0.0:1.0:0.0	.	169;169;169	Q6PIJ6-3;Q6PIJ6-2;Q6PIJ6	.;.;FBX38_HUMAN	H	169	ENSP00000342023:R169H;ENSP00000296701:R169H;ENSP00000377895:R169H;ENSP00000426410:R169H	ENSP00000296701:R169H	R	+	2	0	FBXO38	147762183	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.638000	0.83328	2.871000	0.98454	0.655000	0.94253	CGT		0.353	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		4	78	0	0	0	1	0	4	78				
TMCC1	23023	broad.mit.edu	37	3	129389968	129389968	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:129389968T>C	ENST00000393238.3	-	4	1056	c.716A>G	c.(715-717)cAg>cGg	p.Q239R	TMCC1_ENST00000432054.2_5'UTR|TMCC1_ENST00000329333.5_Missense_Mutation_p.Q60R|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q125R	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	239						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CAGGATCTTCTGCTGCAGGTG	0.527																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(715-717)cAg>cGg		transmembrane and coiled-coil domain family 1							193.0	190.0	191.0					3																	129389968		2203	4300	6503	SO:0001583	missense	23023					integral to membrane		g.chr3:129389968T>C	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.716A>G	3.37:g.129389968T>C	ENSP00000376930:p.Gln239Arg					TMCC1_ENST00000329333.5_Missense_Mutation_p.Q60R|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q125R|TMCC1_ENST00000432054.2_5'UTR	p.Q239R	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			4	1056	-			239					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	c.716A>G	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.512518	0.85389	.	.	ENSG00000172765	ENST00000393238;ENST00000426664;ENST00000329333	T;T;T	0.50277	0.75;0.75;0.75	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.71281	0.3321	M	0.83603	2.65	0.80722	D	1	D;D	0.67145	0.996;0.985	D;D	0.85130	0.997;0.982	T	0.74318	-0.3704	10	0.49607	T	0.09	-29.0987	15.999	0.80275	0.0:0.0:0.0:1.0	.	60;239	B4DE04;O94876	.;TMCC1_HUMAN	R	239;125;60	ENSP00000376930:Q239R;ENSP00000389892:Q125R;ENSP00000327349:Q60R	ENSP00000327349:Q60R	Q	-	2	0	TMCC1	130872658	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.965000	0.87945	2.241000	0.73720	0.482000	0.46254	CAG		0.527	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		31	178	0	0	0	1	0	31	178				
ANGEL2	90806	broad.mit.edu	37	1	213186710	213186710	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr1:213186710G>A	ENST00000366962.3	-	2	264	c.110C>T	c.(109-111)aCa>aTa	p.T37I	ANGEL2_ENST00000360506.2_Intron|ANGEL2_ENST00000544555.1_Intron|ANGEL2_ENST00000535388.1_Intron|ANGEL2_ENST00000540642.1_Intron	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	37										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		CTCCCACGGTGTAGTCCAGTC	0.458																																						ENST00000366962.3																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24						c.(109-111)aCa>aTa		angel homolog 2 (Drosophila)							123.0	122.0	122.0					1																	213186710		2203	4300	6503	SO:0001583	missense	90806							g.chr1:213186710G>A	AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.110C>T	1.37:g.213186710G>A	ENSP00000355929:p.Thr37Ile					ANGEL2_ENST00000544555.1_Intron|ANGEL2_ENST00000360506.2_Intron|ANGEL2_ENST00000535388.1_Intron|ANGEL2_ENST00000540642.1_Intron	p.T37I	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)	2	264	-			37					B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Missense_Mutation	SNP	ENST00000366962.3	37	c.110C>T	CCDS1512.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039629	0.55003	.	.	ENSG00000174606	ENST00000366962;ENST00000310246	T	0.25579	1.79	5.83	4.91	0.64330	.	0.246709	0.39834	N	0.001244	T	0.15869	0.0382	L	0.27053	0.805	0.80722	D	1	B;P	0.40731	0.1;0.728	B;B	0.35114	0.074;0.196	T	0.04153	-1.0973	10	0.40728	T	0.16	-4.3685	9.0719	0.36497	0.2181:0.0:0.7819:0.0	.	15;37	Q96AL9;Q5VTE6	.;ANGE2_HUMAN	I	37;15	ENSP00000355929:T37I	ENSP00000309755:T15I	T	-	2	0	ANGEL2	211253333	0.981000	0.34729	1.000000	0.80357	0.997000	0.91878	3.254000	0.51477	1.451000	0.47736	0.563000	0.77884	ACA		0.458	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089693.1	NM_144567		4	141	0	0	0	1	0	4	141				
NECAB3	63941	broad.mit.edu	37	20	32248142	32248142	+	Silent	SNP	C	C	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr20:32248142C>A	ENST00000246190.6	-	6	502	c.447G>T	c.(445-447)acG>acT	p.T149T	C20orf144_ENST00000375222.3_5'Flank|NECAB3_ENST00000375238.4_Silent_p.T149T|NECAB3_ENST00000606525.1_5'UTR|RP1-63M2.6_ENST00000607224.1_RNA	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	149					protein metabolic process (GO:0019538)|protein secretion (GO:0009306)|regulation of amyloid precursor protein biosynthetic process (GO:0042984)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|Golgi cis cisterna (GO:0000137)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			large_intestine(3)|lung(5)|skin(2)	10						GCTGGCTCACCGTCTCCCGCA	0.647																																						ENST00000246190.6																			0				large_intestine(3)|lung(5)|skin(2)	10						c.(445-447)acG>acT		N-terminal EF-hand calcium binding protein 3							49.0	54.0	53.0					20																	32248142		2059	4215	6274	SO:0001819	synonymous_variant	63941				antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	endoplasmic reticulum membrane|Golgi cis cisterna|nucleus	calcium ion binding|oxidoreductase activity|protein binding	g.chr20:32248142C>A	AB039947	CCDS42866.1, CCDS42867.1	20q11.21	2013-01-10	2007-12-06	2007-12-06	ENSG00000125967	ENSG00000125967		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	15851	protein-coding gene	gene with protein product	"""EF-hand calcium binding protein 3"""	612478	"""amyloid beta (A4) precursor protein-binding, family A, member 2 binding protein"""	SYTIP2, APBA2BP		10833507	Standard	NM_031232		Approved	XB51, dJ63M2.4, NIP1, dJ63M2.5, EFCBP3	uc002wzn.4	Q96P71	OTTHUMG00000032264	ENST00000246190.6:c.447G>T	20.37:g.32248142C>A						NECAB3_ENST00000375238.4_Silent_p.T149T|NECAB3_ENST00000606525.1_5'UTR	p.T149T	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN			6	502	-			149					A8K780|E1P5N2|Q5JWF5|Q5JWF6|Q5JWF7|Q86VV1|Q9H433|Q9H8G8|Q9HBW7|Q9HCQ9	Silent	SNP	ENST00000246190.6	37	c.447G>T	CCDS42866.1																																																																																				0.647	NECAB3-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078724.2			3	67	1	0	0.150653	1	0.155361	3	67				
IL7R	3575	broad.mit.edu	37	5	35876450	35876450	+	Silent	SNP	G	G	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr5:35876450G>C	ENST00000303115.3	+	8	1371	c.1242G>C	c.(1240-1242)acG>acC	p.T414T	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	414			T -> M (in dbSNP:rs2229232).		B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CAAACAGCACGCTGCCCCCTC	0.522			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																															ENST00000303115.3				Dom	yes		5	5p13	146661	"""Mis, O"""	interleukin 7 receptor	yes	Severe combined immune deficiency	L			"""ALL, ETP ALL"""		0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126						c.(1240-1242)acG>acC		interleukin 7 receptor							92.0	80.0	84.0					5																	35876450		2203	4300	6503	SO:0001819	synonymous_variant	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35876450G>C	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.1242G>C	5.37:g.35876450G>C						IL7R_ENST00000343305.4_3'UTR	p.T414T	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		8	1371	+	all_lung(31;0.00015)		414		T -> M (in dbSNP:rs2229232).			B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Silent	SNP	ENST00000303115.3	37	c.1242G>C	CCDS3911.1																																																																																				0.522	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			3	69	0	0	0	1	0	3	69				
GPR148	344561	broad.mit.edu	37	2	131487419	131487419	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr2:131487419C>T	ENST00000309926.4	+	1	777	c.695C>T	c.(694-696)aCa>aTa	p.T232I		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					TTCCTCTGCACAGCTCTCATT	0.572																																						ENST00000309926.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27						c.(694-696)aCa>aTa		G protein-coupled receptor 148							142.0	137.0	138.0					2																	131487419		2203	4300	6503	SO:0001583	missense	344561					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:131487419C>T	AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"""GPCR / Class A : Orphans"""	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.695C>T	2.37:g.131487419C>T	ENSP00000308908:p.Thr232Ile						p.T232I	NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN			1	777	+	Colorectal(110;0.1)		232					Q2M369|Q86SP7|Q86U87	Missense_Mutation	SNP	ENST00000309926.4	37	c.695C>T	CCDS2163.1	.	.	.	.	.	.	.	.	.	.	.	3.246	-0.154212	0.06585	.	.	ENSG00000173302	ENST00000309926	T	0.36157	1.27	2.8	-0.439	0.12264	GPCR, rhodopsin-like superfamily (1);	0.811143	0.09930	U	0.737342	T	0.19644	0.0472	N	0.08118	0	0.09310	N	1	B	0.18013	0.025	B	0.21360	0.034	T	0.25537	-1.0129	10	0.59425	D	0.04	1.7294	9.6334	0.39793	0.0:0.7734:0.0:0.2266	.	232	Q8TDV2	GP148_HUMAN	I	232	ENSP00000308908:T232I	ENSP00000308908:T232I	T	+	2	0	GPR148	131203889	0.000000	0.05858	0.002000	0.10522	0.649000	0.38597	-0.072000	0.11486	-0.382000	0.07870	-0.628000	0.03992	ACA		0.572	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092		18	142	0	0	0	1	0	18	142				
AKT2	208	broad.mit.edu	37	19	40744879	40744879	+	Splice_Site	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr19:40744879G>A	ENST00000392038.2	-	8	939	c.641C>T	c.(640-642)gCg>gTg	p.A214V	AKT2_ENST00000424901.1_Splice_Site_p.A214V|AKT2_ENST00000311278.6_Splice_Site_p.A214V|AKT2_ENST00000579047.1_Splice_Site_p.A152V	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	214	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			ATACTTCAGCGCCTGGGGGAT	0.642			A		"""ovarian, pancreatic """																																	ENST00000392038.2				Dom	yes		19	19q13.1-q13.2	208	A	v-akt murine thymoma viral oncogene homolog 2			E			"""ovarian, pancreatic """		0				breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27						c.e8-1		v-akt murine thymoma viral oncogene homolog 2							80.0	75.0	77.0					19																	40744879		2203	4300	6503	SO:0001630	splice_region_variant	208				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr19:40744879G>A	M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.640-1C>T	19.37:g.40744879G>A						AKT2_ENST00000424901.1_Splice_Site_p.A214_splice|AKT2_ENST00000579047.1_Splice_Site_p.A152_splice|AKT2_ENST00000311278.6_Splice_Site_p.A214_splice	p.A214_splice	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	Lung(22;0.000499)		8	939	-			214			Protein kinase.		B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Splice_Site	SNP	ENST00000392038.2	37	c.639_splice	CCDS12552.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466531	0.43839	.	.	ENSG00000105221	ENST00000392038;ENST00000391844;ENST00000424901;ENST00000311278;ENST00000391845	T;T;T	0.25579	1.79;1.79;1.79	4.96	4.96	0.65561	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.148318	0.64402	D	0.000009	T	0.18045	0.0433	N	0.12746	0.255	0.50632	D	0.99988	B;B;B	0.19817	0.016;0.034;0.039	B;B;B	0.18871	0.004;0.023;0.003	T	0.06127	-1.0844	10	0.66056	D	0.02	.	17.4821	0.87675	0.0:0.0:1.0:0.0	.	152;214;214	B4DG79;Q0VAN0;P31751	.;.;AKT2_HUMAN	V	214;115;214;214;34	ENSP00000375892:A214V;ENSP00000399532:A214V;ENSP00000309428:A214V	ENSP00000309428:A214V	A	-	2	0	AKT2	45436719	1.000000	0.71417	0.962000	0.40283	0.108000	0.19459	6.534000	0.73833	2.731000	0.93534	0.655000	0.94253	GCG		0.642	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268029.1	NM_001626	Missense_Mutation	4	105	0	0	0	1	0	4	105				
KANK1	23189	broad.mit.edu	37	9	732477	732477	+	Silent	SNP	G	G	A	rs569686873|rs370051574		TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr9:732477G>A	ENST00000382303.1	+	10	3757	c.3105G>A	c.(3103-3105)gaG>gaA	p.E1035E	KANK1_ENST00000382293.3_Silent_p.E877E|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Silent_p.E1035E	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1035					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TTGAAGAAGAGGAGGAGGAGG	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		19819	0.0		0.0	False		,,,				2504	0.001					ENST00000382303.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43						c.(3103-3105)gaG>gaA		KN motif and ankyrin repeat domains 1							153.0	134.0	140.0					9																	732477		2203	4300	6503	SO:0001819	synonymous_variant	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:732477G>A	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3105G>A	9.37:g.732477G>A						KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Silent_p.E1035E|KANK1_ENST00000382293.3_Silent_p.E877E	p.E1035E	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	10	3757	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	1035					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	ENST00000382303.1	37	c.3105G>A	CCDS34976.1																																																																																				0.468	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		5	131	0	0	0	1	0	5	131				
LNX1	84708	broad.mit.edu	37	4	54440053	54440053	+	Silent	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr4:54440053G>A	ENST00000263925.7	-	2	431	c.117C>T	c.(115-117)ctC>ctT	p.L39L	FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000504605.1_5'Flank	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	39					protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGTGGCAGATGAGGTCATCAT	0.572																																						ENST00000263925.7																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32						c.(115-117)ctC>ctT		ligand of numb-protein X 1, E3 ubiquitin protein ligase							42.0	39.0	40.0					4																	54440053		1568	3582	5150	SO:0001819	synonymous_variant	84708					cytoplasm	zinc ion binding	g.chr4:54440053G>A	AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"""RING-type (C3HC4) zinc fingers"""	6657	protein-coding gene	gene with protein product		609732	"""ligand of numb-protein X"", ""ligand of numb-protein X 1"""	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.117C>T	4.37:g.54440053G>A						FIP1L1_ENST00000507166.1_Intron	p.L39L	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)		2	431	-	all_neural(26;0.153)		39					Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Silent	SNP	ENST00000263925.7	37	c.117C>T	CCDS47057.1																																																																																				0.572	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2			17	35	0	0	0	1	0	17	35				
GNAS	2778	broad.mit.edu	37	20	57415297	57415297	+	Missense_Mutation	SNP	G	G	T	rs557714686		TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr20:57415297G>T	ENST00000313949.7	+	1	525	c.136G>T	c.(136-138)Gcc>Tcc	p.A46S	GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.A46S|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371098.2_Missense_Mutation_p.A46S|GNAS-AS1_ENST00000443966.1_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCGCGCCCTTGCCACCTCCAA	0.697			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000313949.7				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""	E			pituitary adenoma		0				adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(136-138)Gcc>Tcc		GNAS complex locus							23.0	29.0	27.0					20																	57415297		2199	4287	6486	SO:0001583	missense	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57415297G>T	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000313949.7:c.136G>T	20.37:g.57415297G>T	ENSP00000323571:p.Ala46Ser	TSP Lung(22;0.16)				GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371098.2_Missense_Mutation_p.A46S|GNAS_ENST00000371075.3_Missense_Mutation_p.A46S|GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000424094.2_RNA	p.A46S			P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	525	+	all_lung(29;0.0104)		0					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000313949.7	37	c.136G>T	CCDS13471.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.371518	0.61624	.	.	ENSG00000087460	ENST00000313949;ENST00000371098;ENST00000371075	.	.	.	3.72	3.72	0.42706	.	.	.	.	.	T	0.60766	0.2294	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.62821	-0.6773	8	0.59425	D	0.04	.	11.3015	0.49309	0.0:0.0:1.0:0.0	.	46	O95467	GNAS3_HUMAN	S	46	.	ENSP00000323571:A46S	A	+	1	0	GNAS	56848692	0.995000	0.38212	0.943000	0.38184	0.987000	0.75469	3.731000	0.55013	2.390000	0.81377	0.460000	0.39030	GCC		0.697	GNAS-002	KNOWN	NMD_exception|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080418.7	NM_000516		3	45	1	0	1	1	1	3	45				
KCNB2	9312	broad.mit.edu	37	8	73480145	73480145	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr8:73480145C>T	ENST00000523207.1	+	2	764	c.176C>T	c.(175-177)aCg>aTg	p.T59M		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	59					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	CTGCCCAGGACGCGCCTGGGG	0.537																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(175-177)aCg>aTg		potassium voltage-gated channel, Shab-related subfamily, member 2							66.0	68.0	67.0					8																	73480145		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73480145C>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.176C>T	8.37:g.73480145C>T	ENSP00000430846:p.Thr59Met						p.T59M	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	764	+	Breast(64;0.137)		59					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.176C>T	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.004318	0.93287	.	.	ENSG00000182674	ENST00000523207	D	0.82081	-1.57	5.71	5.71	0.89125	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	.	.	.	.	D	0.93877	0.8041	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94789	0.7960	9	0.87932	D	0	.	19.8677	0.96824	0.0:1.0:0.0:0.0	.	59	Q92953	KCNB2_HUMAN	M	59	ENSP00000430846:T59M	ENSP00000430846:T59M	T	+	2	0	KCNB2	73642699	1.000000	0.71417	0.950000	0.38849	0.986000	0.74619	7.818000	0.86416	2.709000	0.92574	0.655000	0.94253	ACG		0.537	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		27	74	0	0	0	1	0	27	74				
NGLY1	55768	broad.mit.edu	37	3	25820147	25820147	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:25820147C>T	ENST00000280700.5	-	2	324	c.164G>A	c.(163-165)cGg>cAg	p.R55Q	NGLY1_ENST00000417874.2_Missense_Mutation_p.R13Q|NGLY1_ENST00000396649.3_Missense_Mutation_p.R55Q|NGLY1_ENST00000422724.2_5'UTR|NGLY1_ENST00000428257.1_Missense_Mutation_p.R55Q	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	55	PUB.				glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						GTTTCCAATCCGGATGGATCT	0.338																																						ENST00000428257.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						c.(163-165)cGg>cAg		N-glycanase 1							108.0	112.0	110.0					3																	25820147		2203	4300	6503	SO:0001583	missense	55768				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	g.chr3:25820147C>T	AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.164G>A	3.37:g.25820147C>T	ENSP00000280700:p.Arg55Gln					NGLY1_ENST00000280700.5_Missense_Mutation_p.R55Q|NGLY1_ENST00000417874.2_Missense_Mutation_p.R13Q|NGLY1_ENST00000396649.3_Missense_Mutation_p.R55Q|NGLY1_ENST00000422724.2_5'UTR	p.R55Q	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN			2	271	-			55			PUB.		B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Missense_Mutation	SNP	ENST00000280700.5	37	c.164G>A	CCDS33719.1	.	.	.	.	.	.	.	.	.	.	C	35	5.582607	0.96578	.	.	ENSG00000151092	ENST00000428257;ENST00000280700;ENST00000396649;ENST00000308710;ENST00000417874	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;1.07	5.43	5.43	0.79202	PUG domain (1);PUB domain (1);	0.000000	0.85682	D	0.000000	T	0.72771	0.3502	M	0.90977	3.165	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.988;1.0	D;D;B;D	0.79108	0.992;0.912;0.426;0.954	T	0.78922	-0.2013	10	0.72032	D	0.01	-16.0251	18.3731	0.90413	0.0:1.0:0.0:0.0	.	13;55;55;55	B4DJE9;Q96IV0-2;Q96IV0-3;Q96IV0	.;.;.;NGLY1_HUMAN	Q	55;55;55;52;13	ENSP00000387430:R55Q;ENSP00000280700:R55Q;ENSP00000379886:R55Q;ENSP00000307980:R52Q;ENSP00000389888:R13Q	ENSP00000280700:R55Q	R	-	2	0	NGLY1	25795151	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.296000	0.65698	2.703000	0.92315	0.650000	0.86243	CGG		0.338	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2			31	72	0	0	0	1	0	31	72				
CFAP36	112942	broad.mit.edu	37	2	55746969	55746969	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr2:55746969G>T	ENST00000349456.4	+	1	180	c.32G>T	c.(31-33)tGg>tTg	p.W11L	CCDC104_ENST00000339012.3_Missense_Mutation_p.W11L|CCDC104_ENST00000406691.3_Missense_Mutation_p.W11L|CCDC104_ENST00000407816.3_Missense_Mutation_p.W11L|CCDC104_ENST00000403007.3_Missense_Mutation_p.W11L			Q96G28	CFA36_HUMAN		11										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GAGGTGGAGTGGGTAGTGGAG	0.612																																						ENST00000349456.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14						c.(31-33)tGg>tTg		coiled-coil domain containing 104							92.0	99.0	97.0					2																	55746969		2203	4300	6503	SO:0001583	missense	112942							g.chr2:55746969G>T																												ENST00000349456.4:c.32G>T	2.37:g.55746969G>T	ENSP00000295117:p.Trp11Leu					CCDC104_ENST00000407816.3_Missense_Mutation_p.W11L|CCDC104_ENST00000339012.3_Missense_Mutation_p.W11L|CCDC104_ENST00000403007.3_Missense_Mutation_p.W11L|CCDC104_ENST00000406691.3_Missense_Mutation_p.W11L	p.W11L			Q96G28	CC104_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		1	180	+			11					Q53SF0|Q53ST9|Q6UY34	Missense_Mutation	SNP	ENST00000349456.4	37	c.32G>T	CCDS1854.2	.	.	.	.	.	.	.	.	.	.	G	32	5.136129	0.94517	.	.	ENSG00000163001	ENST00000339012;ENST00000406691;ENST00000349456;ENST00000407816;ENST00000403007	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	5.76	5.76	0.90799	ADP-ribosylation factor-like 2-binding protein, domain (2);	0.052086	0.85682	D	0.000000	T	0.73489	0.3593	M	0.83384	2.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.75803	-0.3189	10	0.66056	D	0.02	.	19.97	0.97282	0.0:0.0:1.0:0.0	.	11;11	Q96G28;Q96G28-2	CC104_HUMAN;.	L	11	ENSP00000342699:W11L;ENSP00000385400:W11L;ENSP00000295117:W11L;ENSP00000385376:W11L;ENSP00000385972:W11L	ENSP00000342699:W11L	W	+	2	0	CCDC104	55600473	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.796000	0.69080	2.734000	0.93682	0.609000	0.83330	TGG		0.612	CCDC104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319610.2			43	94	1	0	1.19403e-26	1	1.3357e-26	43	94				
BAGE2	85319	broad.mit.edu	37	21	11058316	11058316	+	RNA	SNP	G	G	T	rs3877860		TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr21:11058316G>T	ENST00000470054.1	-	0	331							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTTACAAAATGCACATCGCTG	0.388																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11058316G>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058316G>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	331	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.388	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		8	211	1	0	0.00448238	1	0.00469583	8	211				
RAB37	326624	broad.mit.edu	37	17	72736974	72736974	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr17:72736974T>C	ENST00000392613.5	+	2	217	c.161T>C	c.(160-162)tTc>tCc	p.F54S	RAB37_ENST00000392612.3_Intron|RAB37_ENST00000392614.4_Missense_Mutation_p.F59S|RAB37_ENST00000340415.3_Intron|RAB37_ENST00000392615.5_Intron|RAB37_ENST00000402449.4_Intron|RAB37_ENST00000528438.1_Missense_Mutation_p.F27S|RAB37_ENST00000392610.1_Missense_Mutation_p.F54S	NM_001006638.2	NP_001006639.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	54					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|secretory granule (GO:0030141)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						GACGGGGCCTTCCTGTCCGGA	0.577																																						ENST00000392610.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						c.(160-162)tTc>tCc		RAB37, member RAS oncogene family							132.0	130.0	130.0					17																	72736974		2203	4300	6503	SO:0001583	missense	326624				protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding	g.chr17:72736974T>C	BC040547	CCDS11703.1, CCDS32722.1, CCDS54161.1, CCDS54162.1	17q25.2	2008-02-05			ENSG00000172794	ENSG00000172794		"""RAB, member RAS oncogene"""	30268	protein-coding gene	gene with protein product		609956				10722846	Standard	NM_175738		Approved		uc002jlk.3	Q96AX2	OTTHUMG00000134282	ENST00000392613.5:c.161T>C	17.37:g.72736974T>C	ENSP00000376389:p.Phe54Ser					RAB37_ENST00000392612.3_Intron|RAB37_ENST00000340415.3_Intron|RAB37_ENST00000402449.4_Intron|RAB37_ENST00000392614.4_Missense_Mutation_p.F59S|RAB37_ENST00000528438.1_Missense_Mutation_p.F27S|RAB37_ENST00000392613.5_Missense_Mutation_p.F54S|RAB37_ENST00000392615.5_Intron	p.F54S			Q96AX2	RAB37_HUMAN			2	202	+			54					A8MXF5|A8MYT0|Q8IWA7	Missense_Mutation	SNP	ENST00000392613.5	37	c.161T>C	CCDS32722.1	.	.	.	.	.	.	.	.	.	.	T	15.21	2.764776	0.49574	.	.	ENSG00000172794	ENST00000528438;ENST00000392614;ENST00000392613;ENST00000533530;ENST00000392610	D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22	5.1	4.01	0.46588	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.94335	0.8179	M	0.93328	3.405	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.81914	0.984;0.995	D	0.94061	0.7326	10	0.87932	D	0	.	10.3486	0.43920	0.1474:0.0:0.0:0.8526	.	59;54	A8MYT0;Q96AX2	.;RAB37_HUMAN	S	27;59;54;54;54	ENSP00000432086:F27S;ENSP00000376390:F59S;ENSP00000376389:F54S;ENSP00000376387:F54S	ENSP00000376387:F54S	F	+	2	0	RAB37	70248569	1.000000	0.71417	1.000000	0.80357	0.084000	0.17831	7.520000	0.81821	0.772000	0.33382	-0.496000	0.04628	TTC		0.577	RAB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258872.2	NM_175738		23	184	0	0	0	1	0	23	184				
NET1	10276	broad.mit.edu	37	10	5493806	5493806	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr10:5493806A>C	ENST00000355029.4	+	4	411	c.269A>C	c.(268-270)aAa>aCa	p.K90T	NET1_ENST00000380359.3_Missense_Mutation_p.K36T|NET1_ENST00000542715.1_5'UTR	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	90					apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|myoblast migration (GO:0051451)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						CCAAGCAATAAAAGAGTTCGA	0.388																																						ENST00000355029.4																			0				breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						c.(268-270)aAa>aCa		neuroepithelial cell transforming 1							157.0	164.0	162.0					10																	5493806		2203	4300	6503	SO:0001583	missense	10276				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity	g.chr10:5493806A>C	AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.269A>C	10.37:g.5493806A>C	ENSP00000347134:p.Lys90Thr					NET1_ENST00000542715.1_5'UTR|NET1_ENST00000380359.3_Missense_Mutation_p.K36T	p.K90T	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN			4	411	+			90					Q12773|Q96D82|Q99903|Q9UEN6	Missense_Mutation	SNP	ENST00000355029.4	37	c.269A>C	CCDS41483.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.427199	0.83667	.	.	ENSG00000173848	ENST00000355029;ENST00000380359	T;T	0.20069	2.46;2.1	5.83	5.83	0.93111	.	0.000000	0.44688	D	0.000432	T	0.49779	0.1577	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.54583	-0.8272	10	0.87932	D	0	-25.2661	15.0387	0.71770	1.0:0.0:0.0:0.0	.	36;90	Q5SQI7;Q7Z628	.;ARHG8_HUMAN	T	90;36	ENSP00000347134:K90T;ENSP00000369717:K36T	ENSP00000347134:K90T	K	+	2	0	NET1	5483806	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.905000	0.92613	2.231000	0.72958	0.460000	0.39030	AAA		0.388	NET1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046553.3	NM_005863		5	125	0	0	0	1	0	5	125				
KIAA1549L	25758	broad.mit.edu	37	11	33564307	33564307	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr11:33564307G>A	ENST00000321505.4	+	1	487	c.307G>A	c.(307-309)Ggg>Agg	p.G103R	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.G103R|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.G103R			Q6ZVL6	K154L_HUMAN	KIAA1549-like	103						integral component of membrane (GO:0016021)											AGTGCACAATGGGGTGTCTTT	0.522											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000321505.4																			0											c.(307-309)Ggg>Agg		KIAA1549-like							38.0	39.0	39.0					11																	33564307		1877	4115	5992	SO:0001583	missense	25758							g.chr11:33564307G>A	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.307G>A	11.37:g.33564307G>A	ENSP00000315295:p.Gly103Arg		OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	841	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.G103R|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.G103R	p.G103R							1	487	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.307G>A	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	G	10.27	1.303630	0.23736	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654	.	.	.	5.19	0.0615	0.14341	.	.	.	.	.	T	0.25158	0.0611	N	0.24115	0.695	0.09310	N	1	B;B	0.20261	0.005;0.043	B;B	0.21546	0.007;0.035	T	0.25537	-1.0129	8	0.23302	T	0.38	.	6.8509	0.24014	0.3276:0.1271:0.5452:0.0	.	103;103	E9PAT2;Q6ZVL6-2	.;.	R	103	.	ENSP00000265654:G103R	G	+	1	0	C11orf41	33520883	0.000000	0.05858	0.016000	0.15963	0.033000	0.12548	0.149000	0.16243	0.116000	0.18110	0.561000	0.74099	GGG		0.522	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		8	23	0	0	0	1	0	8	23				
HGD	3081	broad.mit.edu	37	3	120365112	120365112	+	Splice_Site	SNP	A	A	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:120365112A>G	ENST00000283871.5	-	9	1109		c.e9+1			NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase						cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		ATGAAGATTTACCAATTGGTC	0.453																																						ENST00000283871.5																			0				cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25						c.e9+1		homogentisate 1,2-dioxygenase							91.0	86.0	88.0					3																	120365112		2203	4300	6503	SO:0001630	splice_region_variant	3081				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding	g.chr3:120365112A>G		CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"""homogentisate oxidase"""	607474	"""homogentisate 1,2-dioxygenase (homogentisate oxidase)"""	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.649+1T>C	3.37:g.120365112A>G								NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN		GBM - Glioblastoma multiforme(114;0.158)	9	1109	-								A8K417|B2R8Z0	Splice_Site	SNP	ENST00000283871.5	37		CCDS3000.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.033866	0.75504	.	.	ENSG00000113924	ENST00000283871;ENST00000475447;ENST00000494453	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9693	0.64230	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HGD	121847802	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.353000	0.90077	2.181000	0.69327	0.533000	0.62120	.		0.453	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355410.1		Intron	23	48	0	0	0	1	0	23	48				
ULK3	25989	broad.mit.edu	37	15	75134439	75134439	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr15:75134439G>A	ENST00000440863.2	-	3	432	c.341C>T	c.(340-342)gCg>gTg	p.A114V	ULK3_ENST00000568667.1_Missense_Mutation_p.A125V|ULK3_ENST00000569437.1_Missense_Mutation_p.A114V	NM_001099436.1	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3	114	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|cellular senescence (GO:0090398)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)	2						GAAGACACGCGCCACCTTCTC	0.572																																						ENST00000440863.2																			0				breast(2)	2						c.(340-342)gCg>gTg		unc-51 like kinase 3							117.0	125.0	122.0					15																	75134439		2114	4233	6347	SO:0001583	missense	25989					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr15:75134439G>A	BC048289		15q24.1	2013-07-02	2013-07-02			ENSG00000140474			19703	protein-coding gene	gene with protein product		613472	"""unc-51-like kinase 3 (C. elegans)"""				Standard	XM_005254289		Approved	DKFZP434C131, FLJ90566	uc010bkf.1	Q6PHR2		ENST00000440863.2:c.341C>T	15.37:g.75134439G>A	ENSP00000400312:p.Ala114Val					ULK3_ENST00000569437.1_Missense_Mutation_p.A114V|ULK3_ENST00000568667.1_Missense_Mutation_p.A125V	p.A114V	NM_001099436.1	NP_001092906.1	Q6PHR2	ULK3_HUMAN			3	432	-			114			Protein kinase.		B2RXK3|B4DRQ7|D3DW68|Q9NPN5|Q9UFS4	Missense_Mutation	SNP	ENST00000440863.2	37	c.341C>T	CCDS45305.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289945	0.40494	.	.	ENSG00000140474	ENST00000440863;ENST00000418051	T	0.65732	-0.17	5.53	5.53	0.82687	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.112642	0.64402	D	0.000014	T	0.38134	0.1029	N	0.04959	-0.14	0.47819	D	0.99952	B;B;B;B;B	0.29232	0.104;0.238;0.045;0.022;0.048	B;B;B;B;B	0.27380	0.064;0.069;0.061;0.079;0.011	T	0.34004	-0.9846	10	0.20046	T	0.44	-5.4892	11.5269	0.50584	0.0819:0.0:0.9181:0.0	.	24;125;24;114;114	B4DEJ1;B4DFT0;B4DFS6;Q6PHR2;Q6PHR2-3	.;.;.;ULK3_HUMAN;.	V	114;125	ENSP00000400312:A114V	ENSP00000393658:A125V	A	-	2	0	ULK3	72921492	1.000000	0.71417	0.989000	0.46669	0.910000	0.53928	6.287000	0.72671	2.605000	0.88082	0.655000	0.94253	GCG		0.572	ULK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421734.4	NM_015518		61	174	0	0	0	1	0	61	174				
PLEC	5339	broad.mit.edu	37	8	144998994	144998994	+	Silent	SNP	C	C	T	rs542255749		TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr8:144998994C>T	ENST00000322810.4	-	31	5683	c.5514G>A	c.(5512-5514)gcG>gcA	p.A1838A	PLEC_ENST00000354958.2_Silent_p.A1679A|PLEC_ENST00000527096.1_Silent_p.A1724A|PLEC_ENST00000436759.2_Silent_p.A1728A|PLEC_ENST00000398774.2_Silent_p.A1669A|PLEC_ENST00000345136.3_Silent_p.A1701A|PLEC_ENST00000357649.2_Silent_p.A1705A|PLEC_ENST00000356346.3_Silent_p.A1687A|PLEC_ENST00000354589.3_Silent_p.A1701A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1838	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGGTGCCTTCCGCCAGCTGCC	0.746													C|||	1	0.000199681	0.0	0.0	5008	,	,		9841	0.001		0.0	False		,,,				2504	0.0					ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(5512-5514)gcG>gcA		plectin							2.0	3.0	3.0					8																	144998994		1646	3458	5104	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144998994C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.5514G>A	8.37:g.144998994C>T						PLEC_ENST00000357649.2_Silent_p.A1705A|PLEC_ENST00000354958.2_Silent_p.A1679A|PLEC_ENST00000345136.3_Silent_p.A1701A|PLEC_ENST00000354589.3_Silent_p.A1701A|PLEC_ENST00000527096.1_Silent_p.A1724A|PLEC_ENST00000398774.2_Silent_p.A1669A|PLEC_ENST00000436759.2_Silent_p.A1728A|PLEC_ENST00000356346.3_Silent_p.A1687A	p.A1838A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			31	5683	-			1838			Central fibrous rod domain.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.5514G>A	CCDS43772.1																																																																																				0.746	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		3	8	0	0	0	1	0	3	8				
UHRF1BP1	54887	broad.mit.edu	37	6	34839640	34839640	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr6:34839640A>C	ENST00000192788.5	+	20	4306	c.4135A>C	c.(4135-4137)Aag>Cag	p.K1379Q	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.K1379Q	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1379							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TAAAAGTGAGAAGAGACAGCC	0.468																																						ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(4135-4137)Aag>Cag		UHRF1 binding protein 1							51.0	49.0	50.0					6																	34839640		1863	4098	5961	SO:0001583	missense	54887							g.chr6:34839640A>C	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.4135A>C	6.37:g.34839640A>C	ENSP00000192788:p.Lys1379Gln					UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.K1379Q	p.K1379Q	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			20	4306	+			1379					Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	c.4135A>C	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	A	7.832	0.720001	0.15372	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.09163	3.07;3.01	6.08	3.58	0.41010	.	0.445995	0.26556	N	0.023705	T	0.01940	0.0061	L	0.43152	1.355	0.22378	N	0.999155	P	0.51933	0.949	B	0.38264	0.269	T	0.28713	-1.0035	10	0.10636	T	0.68	-20.1217	3.3877	0.07277	0.6543:0.0:0.1776:0.1681	.	1379	Q6BDS2	URFB1_HUMAN	Q	1379	ENSP00000192788:K1379Q;ENSP00000400628:K1379Q	ENSP00000192788:K1379Q	K	+	1	0	UHRF1BP1	34947618	1.000000	0.71417	1.000000	0.80357	0.300000	0.27592	1.839000	0.39220	1.129000	0.42072	0.533000	0.62120	AAG		0.468	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		5	40	0	0	0	1	0	5	40				
ARHGAP24	83478	broad.mit.edu	37	4	86916229	86916229	+	Silent	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr4:86916229G>A	ENST00000395184.1	+	9	1888	c.1422G>A	c.(1420-1422)acG>acA	p.T474T	ARHGAP24_ENST00000264343.4_Silent_p.T381T|ARHGAP24_ENST00000395183.2_Silent_p.T379T	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	474					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)	p.T474T(1)|p.T381T(1)		breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AAATGGGCACGCACAGTGTAC	0.517																																						ENST00000395184.1																			2	Substitution - coding silent(2)	p.T474T(1)|p.T381T(1)	cervix(2)	breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(1420-1422)acG>acA		Rho GTPase activating protein 24							84.0	84.0	84.0					4																	86916229		2203	4300	6503	SO:0001819	synonymous_variant	83478				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	g.chr4:86916229G>A	AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.1422G>A	4.37:g.86916229G>A						ARHGAP24_ENST00000395183.2_Silent_p.T379T|ARHGAP24_ENST00000264343.4_Silent_p.T381T	p.T474T	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000571)	9	1888	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	474					Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Silent	SNP	ENST00000395184.1	37	c.1422G>A	CCDS34025.1																																																																																				0.517	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	NM_031305		4	105	0	0	0	1	0	4	105				
CASC1	55259	broad.mit.edu	37	12	25259959	25259959	+	IGR	SNP	C	C	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr12:25259959C>A	ENST00000320267.9	-	0	2361				LRMP_ENST00000548766.1_Missense_Mutation_p.P411T|LRMP_ENST00000354454.3_Missense_Mutation_p.P411T|LRMP_ENST00000547044.1_Missense_Mutation_p.P411T	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1											breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			GAAAAATAATCCATCAAAGTG	0.373																																						ENST00000354454.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19						c.(1231-1233)Cca>Aca		lymphoid-restricted membrane protein							82.0	75.0	77.0					12																	25259959		2203	4299	6502	SO:0001628	intergenic_variant	4033				vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane		g.chr12:25259959C>A	AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 54"""					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195		12.37:g.25259959C>A						LRMP_ENST00000548766.1_Missense_Mutation_p.P411T|LRMP_ENST00000547044.1_Missense_Mutation_p.P411T	p.P411T	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN			20	2060	+	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)		467					B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	ENST00000320267.9	37	c.1231C>A	CCDS41762.1	.	.	.	.	.	.	.	.	.	.	C	3.773	-0.047310	0.07407	.	.	ENSG00000118308	ENST00000354454;ENST00000536173;ENST00000548766;ENST00000547044	T;T;T;T	0.10477	2.87;2.87;2.87;2.87	5.56	2.68	0.31781	.	1.153860	0.06326	N	0.705380	T	0.08758	0.0217	L	0.35723	1.085	0.09310	N	1	P	0.39352	0.669	B	0.38106	0.265	T	0.31475	-0.9942	10	0.11182	T	0.66	-1.9062	5.162	0.15066	0.15:0.6266:0.1445:0.0789	.	467	Q12912	LRMP_HUMAN	T	411;358;411;411	ENSP00000346442:P411T;ENSP00000444056:P358T;ENSP00000446496:P411T;ENSP00000450246:P411T	ENSP00000346442:P411T	P	+	1	0	LRMP	25151226	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.362000	0.20284	0.266000	0.21894	0.585000	0.79938	CCA		0.373	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272		13	22	1	0	2.31682e-05	1	2.50673e-05	13	22				
METAP2	10988	broad.mit.edu	37	12	95888909	95888909	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr12:95888909T>C	ENST00000323666.5	+	6	996	c.767T>C	c.(766-768)aTa>aCa	p.I256T	METAP2_ENST00000261220.9_Missense_Mutation_p.I233T|METAP2_ENST00000546753.1_Missense_Mutation_p.I233T|METAP2_ENST00000550777.1_Missense_Mutation_p.I220T|METAP2_ENST00000551840.1_Missense_Mutation_p.I255T	NM_006838.3	NP_006829.1			methionyl aminopeptidase 2											endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						GGAACACATATAAGTGGTAAA	0.373																																						ENST00000323666.5																			0				endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						c.(766-768)aTa>aCa		methionyl aminopeptidase 2	L-Methionine(DB00134)						68.0	65.0	66.0					12																	95888909		2203	4300	6503	SO:0001583	missense	10988				N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chr12:95888909T>C	U13261	CCDS9052.1	12q22	2014-09-04			ENSG00000111142		3.4.11.18		16672	protein-coding gene	gene with protein product	"""Peptidase M"""	601870				7644482, 8858118	Standard	NM_006838		Approved	MNPEP, p67, MAP2	uc001tec.3	P50579	OTTHUMG00000170280	ENST00000323666.5:c.767T>C	12.37:g.95888909T>C	ENSP00000325312:p.Ile256Thr					METAP2_ENST00000551840.1_Missense_Mutation_p.I255T|METAP2_ENST00000550777.1_Missense_Mutation_p.I220T|METAP2_ENST00000546753.1_Missense_Mutation_p.I233T|METAP2_ENST00000261220.9_Missense_Mutation_p.I233T	p.I256T	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN			6	996	+			256						Missense_Mutation	SNP	ENST00000323666.5	37	c.767T>C	CCDS9052.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.413555	0.83449	.	.	ENSG00000111142	ENST00000323666;ENST00000546753;ENST00000261220;ENST00000550777;ENST00000551840;ENST00000549808	T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.4	5.4	0.78164	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	D	0.90659	0.7070	M	0.93854	3.465	0.80722	D	1	D;D;P;D;D	0.69078	0.973;0.997;0.487;0.976;0.967	D;D;P;D;D	0.71184	0.971;0.972;0.796;0.918;0.921	D	0.93115	0.6520	10	0.87932	D	0	-13.1593	15.409	0.74902	0.0:0.0:0.0:1.0	.	233;220;233;255;256	B4DUX5;F8VRR3;G3XA91;F8VQZ7;P50579	.;.;.;.;AMPM2_HUMAN	T	256;233;233;220;255;158	ENSP00000325312:I256T;ENSP00000448169:I233T;ENSP00000261220:I233T;ENSP00000448614:I220T;ENSP00000450063:I255T;ENSP00000447661:I158T	ENSP00000261220:I233T	I	+	2	0	METAP2	94413040	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.655000	0.83696	2.035000	0.60131	0.482000	0.46254	ATA		0.373	METAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408296.1	NM_006838		17	48	0	0	0	1	0	17	48				
SLC26A6	65010	broad.mit.edu	37	3	48666102	48666102	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:48666102C>T	ENST00000395550.2	-	15	1692	c.1645G>A	c.(1645-1647)Gtg>Atg	p.V549M	SLC26A6_ENST00000358747.6_Missense_Mutation_p.V528M|SLC26A6_ENST00000420764.2_Missense_Mutation_p.V549M|SLC26A6_ENST00000482282.1_5'Flank|SLC26A6_ENST00000455886.2_Missense_Mutation_p.V513M|SLC26A6_ENST00000383733.3_Missense_Mutation_p.V549M|SLC26A6_ENST00000337000.8_Missense_Mutation_p.V442M			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6	549	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				angiotensin-activated signaling pathway (GO:0038166)|anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular response to cAMP (GO:0071320)|cellular response to fructose stimulus (GO:0071332)|cellular response to interferon-gamma (GO:0071346)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|epithelial fluid transport (GO:0042045)|formate transport (GO:0015724)|intestinal absorption (GO:0050892)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|mannitol transport (GO:0015797)|oxalate transport (GO:0019532)|oxalic acid secretion (GO:0046724)|positive regulation of dipeptide transmembrane transport (GO:2001150)|protein kinase C signaling (GO:0070528)|regulation of intracellular pH (GO:0051453)|sperm capacitation (GO:0048240)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transepithelial chloride transport (GO:0030321)|transepithelial transport (GO:0070633)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|chloride channel complex (GO:0034707)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle membrane (GO:0012506)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|chloride transmembrane transporter activity (GO:0015108)|efflux transmembrane transporter activity (GO:0015562)|formate efflux transmembrane transporter activity (GO:0015660)|formate transmembrane transporter activity (GO:0015499)|formate uptake transmembrane transporter activity (GO:0015659)|oxalate transmembrane transporter activity (GO:0019531)|PDZ domain binding (GO:0030165)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)		SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GCAAAGTACACGGTGGCCGAG	0.612																																					NSCLC(13;369 479 28271 30152 44026)	ENST00000358747.6																		SLC26A6/PRKAR2A(2)	0				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19						c.(1582-1584)Gtg>Atg		solute carrier family 26 (anion exchanger), member 6							102.0	112.0	109.0					3																	48666102		2127	4240	6367	SO:0001583	missense	65010							g.chr3:48666102C>T	AF279265	CCDS43087.1, CCDS46824.1, CCDS46825.1, CCDS46826.1, CCDS63627.1, CCDS63628.1	3p21.31	2013-08-05	2013-07-18		ENSG00000225697	ENSG00000225697		"""Solute carriers"""	14472	protein-coding gene	gene with protein product	"""pendrin-like protein 1"", ""pendrin L1"", ""sulfate anion transporter"", ""anion transporter 1"""	610068	"""solute carrier family 26, member 6"""			11087667, 11247665	Standard	NM_022911		Approved	DKFZp586E1422		Q9BXS9	OTTHUMG00000186381	ENST00000395550.2:c.1645G>A	3.37:g.48666102C>T	ENSP00000378920:p.Val549Met					SLC26A6_ENST00000395550.2_Missense_Mutation_p.V549M|SLC26A6_ENST00000337000.8_Missense_Mutation_p.V442M|SLC26A6_ENST00000455886.2_Missense_Mutation_p.V513M|SLC26A6_ENST00000420764.2_Missense_Mutation_p.V549M|SLC26A6_ENST00000383733.3_Missense_Mutation_p.V549M	p.V528M	NM_001040454.1	NP_001035544.1				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)	14	1832	-								B4DMZ1|Q548A7|Q96Q90|Q9NQU1	Missense_Mutation	SNP	ENST00000395550.2	37	c.1582G>A	CCDS43087.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.520433	0.27211	.	.	ENSG00000225697	ENST00000420764;ENST00000395550;ENST00000383733;ENST00000337000;ENST00000447978;ENST00000358747;ENST00000455886	T;T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18;0.18	5.02	-10.0	0.00425	Sulphate transporter/antisigma-factor antagonist STAS (4);	.	.	.	.	T	0.30103	0.0754	N	0.24115	0.695	0.09310	N	0.999992	P;B;P;B;B;B;B	0.43412	0.806;0.249;0.769;0.093;0.377;0.377;0.016	B;B;B;B;B;B;B	0.36845	0.234;0.034;0.105;0.064;0.105;0.105;0.015	T	0.35400	-0.9790	9	0.46703	T	0.11	.	4.2743	0.10800	0.145:0.0762:0.2825:0.4963	.	513;562;442;549;549;549;3954	B4DMZ1;Q86YZ4;G3XAC1;Q9BXS9-2;Q548A7;Q9BXS9;Q5Y190	.;.;.;.;.;S26A6_HUMAN;.	M	549;549;549;442;562;528;513	ENSP00000404684:V549M;ENSP00000378920:V549M;ENSP00000373239:V549M;ENSP00000337648:V442M;ENSP00000351597:V528M;ENSP00000401066:V513M	ENSP00000337648:V442M	V	-	1	0	SLC26A6	48641106	0.000000	0.05858	0.040000	0.18447	0.713000	0.41058	-3.585000	0.00423	-2.440000	0.00550	0.561000	0.74099	GTG		0.612	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345040.1	NM_022911		3	68	0	0	0	1	0	3	68				
SOBP	55084	broad.mit.edu	37	6	107954878	107954878	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr6:107954878G>A	ENST00000317357.5	+	6	1489	c.830G>A	c.(829-831)aGc>aAc	p.S277N		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GGGCTGTGCAGCACATTACAC	0.488																																						ENST00000317357.5																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(829-831)aGc>aAc		sine oculis binding protein homolog (Drosophila)							66.0	71.0	69.0					6																	107954878		1938	4114	6052	SO:0001583	missense	55084						metal ion binding	g.chr6:107954878G>A	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.830G>A	6.37:g.107954878G>A	ENSP00000318900:p.Ser277Asn						p.S277N	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	6	1489	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	277						Missense_Mutation	SNP	ENST00000317357.5	37	c.830G>A	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	G	6.979	0.550654	0.13374	.	.	ENSG00000112320	ENST00000317357	T	0.29655	1.56	5.52	5.52	0.82312	.	0.237737	0.42420	D	0.000719	T	0.04137	0.0115	N	0.01048	-1.04	0.34224	D	0.675749	B	0.02656	0.0	B	0.06405	0.002	T	0.31081	-0.9956	10	0.16896	T	0.51	-1.9086	13.0677	0.59043	0.0738:0.0:0.9262:0.0	.	277	A7XYQ1	SOBP_HUMAN	N	277	ENSP00000318900:S277N	ENSP00000318900:S277N	S	+	2	0	SOBP	108061571	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.573000	0.67417	2.755000	0.94549	0.591000	0.81541	AGC		0.488	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		3	85	0	0	0	1	0	3	85				
ZNF878	729747	broad.mit.edu	37	19	12155153	12155153	+	Silent	SNP	G	G	T	rs189074815		TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr19:12155153G>T	ENST00000547628.1	-	4	1200	c.1063C>A	c.(1063-1065)Cga>Aga	p.R355R	CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000602107.1_Silent_p.R402R|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	355					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TCATGTATTCGAAGATCCTTG	0.383																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(1204-1206)Cga>Aga		zinc finger protein 878							46.0	52.0	50.0					19																	12155153		2192	4293	6485	SO:0001819	synonymous_variant	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155153G>T		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.1063C>A	19.37:g.12155153G>T						CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000547628.1_Silent_p.R355R|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA	p.R402R			C9JN71	ZN878_HUMAN			5	1203	-			355						Silent	SNP	ENST00000547628.1	37	c.1204C>A	CCDS45984.2																																																																																				0.383	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		3	51	1	0	1	1	1	3	51				
PCF11	51585	broad.mit.edu	37	11	82892950	82892950	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr11:82892950T>G	ENST00000298281.4	+	13	4674	c.4222T>G	c.(4222-4224)Ttt>Gtt	p.F1408V	RP11-727A23.4_ENST00000528133.1_RNA	NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	1408					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						AAAGAGCCAGTTTTTTGAAAA	0.388																																						ENST00000298281.4																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						c.(4222-4224)Ttt>Gtt		PCF11 cleavage and polyadenylation factor subunit							70.0	74.0	73.0					11																	82892950		1833	4089	5922	SO:0001583	missense	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82892950T>G	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.4222T>G	11.37:g.82892950T>G	ENSP00000298281:p.Phe1408Val					RP11-727A23.4_ENST00000528133.1_RNA	p.F1408V	NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN			13	4674	+			1408					A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	c.4222T>G	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.455627	0.84209	.	.	ENSG00000165494	ENST00000298281;ENST00000530906	T;T	0.61040	1.7;0.14	5.49	5.49	0.81192	.	0.000000	0.52532	D	0.000061	T	0.74129	0.3676	M	0.70595	2.14	0.58432	D	0.999999	D	0.63880	0.993	D	0.70227	0.968	T	0.75085	-0.3442	9	.	.	.	-11.075	15.5857	0.76479	0.0:0.0:0.0:1.0	.	1408	O94913	PCF11_HUMAN	V	1408;193	ENSP00000298281:F1408V;ENSP00000437076:F193V	.	F	+	1	0	PCF11	82570598	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.579000	0.82511	2.078000	0.62432	0.383000	0.25322	TTT		0.388	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		9	18	0	0	0	1	0	9	18				
FSHR	2492	broad.mit.edu	37	2	49190030	49190030	+	Missense_Mutation	SNP	A	A	G	rs201115329		TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr2:49190030A>G	ENST00000406846.2	-	10	2049	c.1930T>C	c.(1930-1932)Tgt>Cgt	p.C644R	FSHR_ENST00000304421.4_Missense_Mutation_p.C618R|FSHR_ENST00000541117.1_Missense_Mutation_p.C380R|FSHR_ENST00000346173.3_Missense_Mutation_p.C582R	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	644					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	TAGCAGCCACACTTGCTCAGC	0.478									Gonadal Dysgenesis, 46 XX																													ENST00000406846.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(1930-1932)Tgt>Cgt		follicle stimulating hormone receptor	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						85.0	85.0	85.0					2																	49190030		2203	4300	6503	SO:0001583	missense	0	Gonadal Dysgenesis, 46 XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49190030A>G		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1930T>C	2.37:g.49190030A>G	ENSP00000384708:p.Cys644Arg					FSHR_ENST00000304421.4_Missense_Mutation_p.C618R|FSHR_ENST00000541117.1_Missense_Mutation_p.C380R|FSHR_ENST00000346173.3_Missense_Mutation_p.C582R	p.C644R	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	2049	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	644					A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.1930T>C	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	A	11.09	1.535857	0.27475	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117	D;D;D;D	0.93906	-3.31;-3.31;-3.31;-3.31	5.35	5.35	0.76521	.	0.156979	0.64402	D	0.000017	D	0.87204	0.6119	N	0.24115	0.695	0.38331	D	0.943798	B;B;B	0.29508	0.246;0.134;0.246	B;B;B	0.25291	0.05;0.059;0.05	D	0.85678	0.1299	9	.	.	.	.	14.958	0.71131	1.0:0.0:0.0:0.0	.	618;582;644	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	R	644;582;618;380	ENSP00000384708:C644R;ENSP00000333908:C582R;ENSP00000306780:C618R;ENSP00000444172:C380R	.	C	-	1	0	FSHR	49043534	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.722000	0.68485	2.371000	0.80710	0.533000	0.62120	TGT		0.478	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			9	45	0	0	0	1	0	9	45				
COL4A4	1286	broad.mit.edu	37	2	227896870	227896870	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr2:227896870G>A	ENST00000396625.3	-	39	3907	c.3700C>T	c.(3700-3702)Ccc>Tcc	p.P1234S	COL4A4_ENST00000329662.7_Missense_Mutation_p.P1234S	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1234	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTACCTGGGGGTCCTGGGGGA	0.507																																						ENST00000396625.3																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(3700-3702)Ccc>Tcc		collagen, type IV, alpha 4							85.0	86.0	85.0					2																	227896870		1838	4091	5929	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227896870G>A		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.3700C>T	2.37:g.227896870G>A	ENSP00000379866:p.Pro1234Ser					COL4A4_ENST00000329662.7_Missense_Mutation_p.P1234S	p.P1234S	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	39	3907	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	1234			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.3700C>T	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	G	3.977	-0.007289	0.07773	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.96802	-4.13;-3.2	5.5	4.62	0.57501	.	.	.	.	.	D	0.92381	0.7582	N	0.21324	0.655	0.28626	N	0.907938	P	0.34892	0.474	B	0.40410	0.328	D	0.84558	0.0648	9	0.09338	T	0.73	.	12.3796	0.55299	0.0:0.1692:0.8308:0.0	.	1234	P53420	CO4A4_HUMAN	S	1234	ENSP00000379866:P1234S;ENSP00000328553:P1234S	ENSP00000328553:P1234S	P	-	1	0	COL4A4	227605114	0.872000	0.30054	0.717000	0.30585	0.024000	0.10985	1.486000	0.35530	1.323000	0.45263	0.650000	0.86243	CCC		0.507	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		4	104	0	0	0	1	0	4	104				
PTPRS	5802	broad.mit.edu	37	19	5220066	5220066	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr19:5220066G>A	ENST00000587303.1	-	21	3748	c.3649C>T	c.(3649-3651)Cca>Tca	p.P1217S	PTPRS_ENST00000588012.1_Missense_Mutation_p.P1195S|PTPRS_ENST00000592099.1_Missense_Mutation_p.P786S|PTPRS_ENST00000348075.2_Missense_Mutation_p.P1195S|PTPRS_ENST00000353284.2_Missense_Mutation_p.P786S|PTPRS_ENST00000357368.4_Missense_Mutation_p.P1217S|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.P1213S|PTPRS_ENST00000372412.4_Missense_Mutation_p.P1218S			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1217					cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	AACGTGGGTGGCAGCACAGAG	0.647																																						ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(3652-3654)Cca>Tca		protein tyrosine phosphatase, receptor type, S							49.0	57.0	54.0					19																	5220066		2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5220066G>A	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.3649C>T	19.37:g.5220066G>A	ENSP00000467537:p.Pro1217Ser					PTPRS_ENST00000353284.2_Missense_Mutation_p.P786S|PTPRS_ENST00000262963.6_Missense_Mutation_p.P1213S|PTPRS_ENST00000587303.1_Missense_Mutation_p.P1217S|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000357368.4_Missense_Mutation_p.P1217S|PTPRS_ENST00000348075.2_Missense_Mutation_p.P1195S|PTPRS_ENST00000592099.1_Missense_Mutation_p.P786S|PTPRS_ENST00000588012.1_Missense_Mutation_p.P1195S	p.P1218S			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	22	3885	-			1217					O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.3652C>T	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.864401	0.71949	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.60040	0.24;0.26;0.33;0.22;0.34	4.07	4.07	0.47477	.	0.000000	0.64402	U	0.000003	T	0.74839	0.3769	M	0.72353	2.195	0.80722	D	1	D;D;D;B;D;D	0.89917	1.0;1.0;1.0;0.367;1.0;1.0	D;D;D;B;D;D	0.97110	1.0;0.991;0.999;0.193;0.999;0.998	T	0.79470	-0.1790	10	0.87932	D	0	.	16.4556	0.84011	0.0:0.0:1.0:0.0	.	799;786;790;1195;1217;812	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	S	812;1218;1217;1217;1208;1213;1195;799;790;786	ENSP00000361489:P1218S;ENSP00000349932:P1217S;ENSP00000262963:P1213S;ENSP00000269907:P1195S;ENSP00000327313:P786S	ENSP00000262963:P1213S	P	-	1	0	PTPRS	5171066	1.000000	0.71417	0.998000	0.56505	0.352000	0.29268	9.455000	0.97625	2.119000	0.64992	0.655000	0.94253	CCA		0.647	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			4	94	0	0	0	1	0	4	94				
GJA8	2703	broad.mit.edu	37	1	147380382	147380382	+	Silent	SNP	C	C	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr1:147380382C>T	ENST00000369235.1	+	1	300	c.300C>T	c.(298-300)gtC>gtT	p.V100V	GJA8_ENST00000240986.4_Silent_p.V100V			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	100					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					TGCACTACGTCCGCATGGAGG	0.657																																					Melanoma(76;1255 1795 8195 52096)	ENST00000240986.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37						c.(298-300)gtC>gtT		gap junction protein, alpha 8, 50kDa							86.0	75.0	79.0					1																	147380382		2203	4300	6503	SO:0001819	synonymous_variant	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147380382C>T	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.300C>T	1.37:g.147380382C>T						GJA8_ENST00000369235.1_Silent_p.V100V	p.V100V	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN			2	353	+	all_hematologic(923;0.0276)		100					A7L5M5|Q5VVN9|Q9NP25	Silent	SNP	ENST00000369235.1	37	c.300C>T	CCDS30834.1																																																																																				0.657	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		17	66	0	0	0	1	0	17	66				
ZFHX3	463	broad.mit.edu	37	16	72991392	72991392	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr16:72991392G>A	ENST00000268489.5	-	2	3325	c.2653C>T	c.(2653-2655)Cag>Tag	p.Q885*	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	885					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ATCATGAACTGGGCGTCCGAG	0.597																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(2653-2655)Cag>Tag		zinc finger homeobox 3							110.0	101.0	104.0					16																	72991392		2198	4300	6498	SO:0001587	stop_gained	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72991392G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2653C>T	16.37:g.72991392G>A	ENSP00000268489:p.Gln885*					ZFHX3_ENST00000397992.5_Intron	p.Q885*	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			2	3325	-		Ovarian(137;0.13)	885					D3DWS8|O15101|Q13719	Nonsense_Mutation	SNP	ENST00000268489.5	37	c.2653C>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	48	14.183919	0.99783	.	.	ENSG00000140836	ENST00000268489	.	.	.	5.52	5.52	0.82312	.	0.288606	0.24717	N	0.036172	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	19.4741	0.94979	0.0:0.0:1.0:0.0	.	.	.	.	X	885	.	ENSP00000268489:Q885X	Q	-	1	0	ZFHX3	71548893	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	9.801000	0.99128	2.595000	0.87683	0.655000	0.94253	CAG		0.597	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		27	62	0	0	0	1	0	27	62				
OLAH	55301	broad.mit.edu	37	10	15103733	15103733	+	Silent	SNP	A	A	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr10:15103733A>G	ENST00000378228.3	+	4	428	c.174A>G	c.(172-174)ttA>ttG	p.L58L	OLAH_ENST00000378217.3_Silent_p.L111L	NM_001039702.2	NP_001034791.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	58					fatty acid biosynthetic process (GO:0006633)		myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						TGCACTCCTTAAGGCTTCCTG	0.428																																						ENST00000378217.3																			0				endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						c.(331-333)ttA>ttG		oleoyl-ACP hydrolase							106.0	100.0	102.0					10																	15103733		2203	4300	6503	SO:0001819	synonymous_variant	55301				fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity	g.chr10:15103733A>G	AK001844	CCDS7106.1, CCDS31152.1	10p13	2010-11-23	2006-07-07	2006-07-07	ENSG00000152463	ENSG00000152463	3.1.2.14		25625	protein-coding gene	gene with protein product			"""thioesterase domain containing 1"""	THEDC1			Standard	NM_018324		Approved	FLJ11106, SAST	uc001inu.2	Q9NV23	OTTHUMG00000017724	ENST00000378228.3:c.174A>G	10.37:g.15103733A>G						OLAH_ENST00000378228.3_Silent_p.L58L	p.L111L	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN			5	520	+			58					Q5VUB6|Q9NUW1	Silent	SNP	ENST00000378228.3	37	c.333A>G	CCDS31152.1																																																																																				0.428	OLAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046964.1	NM_018324		14	39	0	0	0	1	0	14	39				
SYVN1	84447	broad.mit.edu	37	11	64900945	64900945	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr11:64900945A>C	ENST00000377190.3	-	2	222	c.128T>G	c.(127-129)aTg>aGg	p.M43R	SYVN1_ENST00000526060.1_Missense_Mutation_p.M43R|SYVN1_ENST00000526121.1_5'Flank|SYVN1_ENST00000294256.8_Missense_Mutation_p.M43R|SYVN1_ENST00000307289.6_Missense_Mutation_p.M43R	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	43					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|in utero embryonic development (GO:0001701)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						ACTCACTGCCATGCTGGGGCT	0.632																																						ENST00000526060.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(127-129)aTg>aGg		synovial apoptosis inhibitor 1, synoviolin							75.0	72.0	73.0					11																	64900945		2201	4297	6498	SO:0001583	missense	84447				ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr11:64900945A>C	AB085847	CCDS8097.1, CCDS31605.1	11q13	2013-01-09			ENSG00000162298	ENSG00000162298		"""RING-type (C3HC4) zinc fingers"""	20738	protein-coding gene	gene with protein product	"""HMG-coA reductase degradation 1 homolog (S. cerevisiae)"""	608046				12975321	Standard	NM_032431		Approved	HRD1, DER3	uc001odb.3	Q86TM6		ENST00000377190.3:c.128T>G	11.37:g.64900945A>C	ENSP00000366395:p.Met43Arg					SYVN1_ENST00000377190.3_Missense_Mutation_p.M43R|SYVN1_ENST00000307289.6_Missense_Mutation_p.M43R|SYVN1_ENST00000294256.8_Missense_Mutation_p.M43R	p.M43R			Q86TM6	SYVN1_HUMAN			2	320	-			43					Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	Missense_Mutation	SNP	ENST00000377190.3	37	c.128T>G	CCDS31605.1	.	.	.	.	.	.	.	.	.	.	A	18.40	3.615884	0.66672	.	.	ENSG00000162298	ENST00000377190;ENST00000294256;ENST00000434219;ENST00000307289;ENST00000526060;ENST00000528487	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	4.21	3.06	0.35304	.	0.000000	0.85682	D	0.000000	T	0.66607	0.2806	M	0.87180	2.865	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.997	D;D;D	0.70487	0.931;0.969;0.931	T	0.65368	-0.6185	10	0.34782	T	0.22	-19.8162	8.4422	0.32822	0.8255:0.0:0.0:0.1745	.	43;43;43	Q86TM6-2;Q86TM6-3;Q86TM6	.;.;SYVN1_HUMAN	R	43	ENSP00000366395:M43R;ENSP00000294256:M43R;ENSP00000302035:M43R;ENSP00000436984:M43R;ENSP00000431720:M43R	ENSP00000294256:M43R	M	-	2	0	SYVN1	64657521	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.565000	0.73974	0.751000	0.32900	0.533000	0.62120	ATG		0.632	SYVN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385274.1	NM_032431		7	110	0	0	0	1	0	7	110				
SLC26A6	65010	broad.mit.edu	37	3	48666102	48666102	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr3:48666102C>T	ENST00000395550.2	-	15	1692	c.1645G>A	c.(1645-1647)Gtg>Atg	p.V549M	SLC26A6_ENST00000358747.6_Missense_Mutation_p.V528M|SLC26A6_ENST00000420764.2_Missense_Mutation_p.V549M|SLC26A6_ENST00000482282.1_5'Flank|SLC26A6_ENST00000455886.2_Missense_Mutation_p.V513M|SLC26A6_ENST00000383733.3_Missense_Mutation_p.V549M|SLC26A6_ENST00000337000.8_Missense_Mutation_p.V442M			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6	549	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				angiotensin-activated signaling pathway (GO:0038166)|anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular response to cAMP (GO:0071320)|cellular response to fructose stimulus (GO:0071332)|cellular response to interferon-gamma (GO:0071346)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|epithelial fluid transport (GO:0042045)|formate transport (GO:0015724)|intestinal absorption (GO:0050892)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|mannitol transport (GO:0015797)|oxalate transport (GO:0019532)|oxalic acid secretion (GO:0046724)|positive regulation of dipeptide transmembrane transport (GO:2001150)|protein kinase C signaling (GO:0070528)|regulation of intracellular pH (GO:0051453)|sperm capacitation (GO:0048240)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transepithelial chloride transport (GO:0030321)|transepithelial transport (GO:0070633)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|chloride channel complex (GO:0034707)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle membrane (GO:0012506)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|chloride transmembrane transporter activity (GO:0015108)|efflux transmembrane transporter activity (GO:0015562)|formate efflux transmembrane transporter activity (GO:0015660)|formate transmembrane transporter activity (GO:0015499)|formate uptake transmembrane transporter activity (GO:0015659)|oxalate transmembrane transporter activity (GO:0019531)|PDZ domain binding (GO:0030165)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)		SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GCAAAGTACACGGTGGCCGAG	0.612																																					NSCLC(13;369 479 28271 30152 44026)	ENST00000358747.6																		SLC26A6/PRKAR2A(2)	0				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19						c.(1582-1584)Gtg>Atg		solute carrier family 26 (anion exchanger), member 6							102.0	112.0	109.0					3																	48666102		2127	4240	6367	SO:0001583	missense	65010							g.chr3:48666102C>T	AF279265	CCDS43087.1, CCDS46824.1, CCDS46825.1, CCDS46826.1, CCDS63627.1, CCDS63628.1	3p21.31	2013-08-05	2013-07-18		ENSG00000225697	ENSG00000225697		"""Solute carriers"""	14472	protein-coding gene	gene with protein product	"""pendrin-like protein 1"", ""pendrin L1"", ""sulfate anion transporter"", ""anion transporter 1"""	610068	"""solute carrier family 26, member 6"""			11087667, 11247665	Standard	NM_022911		Approved	DKFZp586E1422		Q9BXS9	OTTHUMG00000186381	ENST00000395550.2:c.1645G>A	3.37:g.48666102C>T	ENSP00000378920:p.Val549Met					SLC26A6_ENST00000455886.2_Missense_Mutation_p.V513M|SLC26A6_ENST00000420764.2_Missense_Mutation_p.V549M|SLC26A6_ENST00000395550.2_Missense_Mutation_p.V549M|SLC26A6_ENST00000337000.8_Missense_Mutation_p.V442M|SLC26A6_ENST00000383733.3_Missense_Mutation_p.V549M	p.V528M	NM_001040454.1	NP_001035544.1				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)	14	1832	-								B4DMZ1|Q548A7|Q96Q90|Q9NQU1	Missense_Mutation	SNP	ENST00000395550.2	37	c.1582G>A	CCDS43087.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.520433	0.27211	.	.	ENSG00000225697	ENST00000420764;ENST00000395550;ENST00000383733;ENST00000337000;ENST00000447978;ENST00000358747;ENST00000455886	T;T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18;0.18	5.02	-10.0	0.00425	Sulphate transporter/antisigma-factor antagonist STAS (4);	.	.	.	.	T	0.30103	0.0754	N	0.24115	0.695	0.09310	N	0.999992	P;B;P;B;B;B;B	0.43412	0.806;0.249;0.769;0.093;0.377;0.377;0.016	B;B;B;B;B;B;B	0.36845	0.234;0.034;0.105;0.064;0.105;0.105;0.015	T	0.35400	-0.9790	9	0.46703	T	0.11	.	4.2743	0.10800	0.145:0.0762:0.2825:0.4963	.	513;562;442;549;549;549;3954	B4DMZ1;Q86YZ4;G3XAC1;Q9BXS9-2;Q548A7;Q9BXS9;Q5Y190	.;.;.;.;.;S26A6_HUMAN;.	M	549;549;549;442;562;528;513	ENSP00000404684:V549M;ENSP00000378920:V549M;ENSP00000373239:V549M;ENSP00000337648:V442M;ENSP00000351597:V528M;ENSP00000401066:V513M	ENSP00000337648:V442M	V	-	1	0	SLC26A6	48641106	0.000000	0.05858	0.040000	0.18447	0.713000	0.41058	-3.585000	0.00423	-2.440000	0.00550	0.561000	0.74099	GTG		0.612	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345040.1	NM_022911		3	68	0	0	0	1	0	3	68				
HCN1	348980	broad.mit.edu	37	5	45645596	45645596	+	Silent	SNP	C	C	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr5:45645596C>T	ENST00000303230.4	-	2	597	c.540G>A	c.(538-540)gtG>gtA	p.V180V		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	180					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TATCTGATGCCACATTGAAAA	0.373																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(538-540)gtG>gtA		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							88.0	87.0	87.0					5																	45645596		2203	4300	6503	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45645596C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.540G>A	5.37:g.45645596C>T							p.V180V	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			2	597	-			180						Silent	SNP	ENST00000303230.4	37	c.540G>A	CCDS3952.1																																																																																				0.373	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		18	62	0	0	0	1	0	18	62				
METAP2	10988	broad.mit.edu	37	12	95888909	95888909	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr12:95888909T>C	ENST00000323666.5	+	6	996	c.767T>C	c.(766-768)aTa>aCa	p.I256T	METAP2_ENST00000261220.9_Missense_Mutation_p.I233T|METAP2_ENST00000546753.1_Missense_Mutation_p.I233T|METAP2_ENST00000550777.1_Missense_Mutation_p.I220T|METAP2_ENST00000551840.1_Missense_Mutation_p.I255T	NM_006838.3	NP_006829.1			methionyl aminopeptidase 2											endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						GGAACACATATAAGTGGTAAA	0.373																																						ENST00000323666.5																			0				endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						c.(766-768)aTa>aCa		methionyl aminopeptidase 2	L-Methionine(DB00134)						68.0	65.0	66.0					12																	95888909		2203	4300	6503	SO:0001583	missense	10988				N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chr12:95888909T>C	U13261	CCDS9052.1	12q22	2014-09-04			ENSG00000111142		3.4.11.18		16672	protein-coding gene	gene with protein product	"""Peptidase M"""	601870				7644482, 8858118	Standard	NM_006838		Approved	MNPEP, p67, MAP2	uc001tec.3	P50579	OTTHUMG00000170280	ENST00000323666.5:c.767T>C	12.37:g.95888909T>C	ENSP00000325312:p.Ile256Thr					METAP2_ENST00000546753.1_Missense_Mutation_p.I233T|METAP2_ENST00000551840.1_Missense_Mutation_p.I255T|METAP2_ENST00000261220.9_Missense_Mutation_p.I233T|METAP2_ENST00000550777.1_Missense_Mutation_p.I220T	p.I256T	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN			6	996	+			256						Missense_Mutation	SNP	ENST00000323666.5	37	c.767T>C	CCDS9052.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.413555	0.83449	.	.	ENSG00000111142	ENST00000323666;ENST00000546753;ENST00000261220;ENST00000550777;ENST00000551840;ENST00000549808	T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.4	5.4	0.78164	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	D	0.90659	0.7070	M	0.93854	3.465	0.80722	D	1	D;D;P;D;D	0.69078	0.973;0.997;0.487;0.976;0.967	D;D;P;D;D	0.71184	0.971;0.972;0.796;0.918;0.921	D	0.93115	0.6520	10	0.87932	D	0	-13.1593	15.409	0.74902	0.0:0.0:0.0:1.0	.	233;220;233;255;256	B4DUX5;F8VRR3;G3XA91;F8VQZ7;P50579	.;.;.;.;AMPM2_HUMAN	T	256;233;233;220;255;158	ENSP00000325312:I256T;ENSP00000448169:I233T;ENSP00000261220:I233T;ENSP00000448614:I220T;ENSP00000450063:I255T;ENSP00000447661:I158T	ENSP00000261220:I233T	I	+	2	0	METAP2	94413040	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.655000	0.83696	2.035000	0.60131	0.482000	0.46254	ATA		0.373	METAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408296.1	NM_006838		17	48	0	0	0	1	0	17	48				
DAO	1610	broad.mit.edu	37	12	109286790	109286790	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr12:109286790G>A	ENST00000228476.3	+	6	689	c.485G>A	c.(484-486)cGg>cAg	p.R162Q	DAO_ENST00000551281.1_Intron	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	162					cellular nitrogen compound metabolic process (GO:0034641)|D-alanine catabolic process (GO:0055130)|D-serine catabolic process (GO:0036088)|D-serine metabolic process (GO:0070178)|dopamine biosynthetic process (GO:0042416)|glyoxylate metabolic process (GO:0046487)|leucine metabolic process (GO:0006551)|proline catabolic process (GO:0006562)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-amino-acid oxidase activity (GO:0003884)|FAD binding (GO:0071949)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26					Flavin adenine dinucleotide(DB03147)	TTCTTCCAGCGGAAAGTGGAG	0.562																																						ENST00000228476.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						c.(484-486)cGg>cAg		D-amino-acid oxidase							187.0	151.0	163.0					12																	109286790		2203	4300	6503	SO:0001583	missense	1610				glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity	g.chr12:109286790G>A	D11370	CCDS9122.1	12q24.11	2013-09-20			ENSG00000110887	ENSG00000110887	1.4.3.3		2671	protein-coding gene	gene with protein product		124050				1356107, 8182053	Standard	NM_001917		Approved	DAMOX	uc001tnr.4	P14920	OTTHUMG00000169360	ENST00000228476.3:c.485G>A	12.37:g.109286790G>A	ENSP00000228476:p.Arg162Gln					DAO_ENST00000551281.1_Intron	p.R162Q	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN			6	689	+			162					B2R7I5|Q16758|Q8N6R2	Missense_Mutation	SNP	ENST00000228476.3	37	c.485G>A	CCDS9122.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.129978	0.56721	.	.	ENSG00000110887	ENST00000228476;ENST00000547768;ENST00000547166	T;T;T	0.81415	-1.49;-1.49;-1.49	5.82	1.89	0.25635	FAD dependent oxidoreductase (1);NAD(P)-binding domain (1);	0.392066	0.31936	N	0.006840	T	0.68026	0.2956	L	0.52759	1.655	0.35347	D	0.786972	P	0.45283	0.855	B	0.36186	0.219	T	0.67699	-0.5603	10	0.30078	T	0.28	-16.927	7.0962	0.25311	0.4402:0.0:0.5598:0.0	.	162	P14920	OXDA_HUMAN	Q	162;39;162	ENSP00000228476:R162Q;ENSP00000449967:R39Q;ENSP00000447104:R162Q	ENSP00000228476:R162Q	R	+	2	0	DAO	107810919	0.238000	0.23825	0.957000	0.39632	0.988000	0.76386	0.310000	0.19356	0.344000	0.23847	0.591000	0.81541	CGG		0.562	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403682.1			14	35	0	0	0	1	0	14	35				
DNAJC21	134218	broad.mit.edu	37	5	34954743	34954743	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr5:34954743C>G	ENST00000342382.4	+	12	1747	c.1520C>G	c.(1519-1521)gCa>gGa	p.A507G	DNAJC21_ENST00000303525.7_Missense_Mutation_p.A520G|DNAJC21_ENST00000382021.2_Missense_Mutation_p.A552G			Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	507					protein folding (GO:0006457)	ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			ACAGGTCATGCAAGAGCACCT	0.408																																						ENST00000382021.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1654-1656)gCa>gGa		DnaJ (Hsp40) homolog, subfamily C, member 21							113.0	107.0	109.0					5																	34954743		2203	4300	6503	SO:0001583	missense	134218				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding	g.chr5:34954743C>G		CCDS3907.2, CCDS34144.1	5p13-p12	2012-10-05			ENSG00000168724	ENSG00000168724		"""Heat shock proteins / DNAJ (HSP40)"""	27030	protein-coding gene	gene with protein product	"""JJJ1 DnaJ domain protein homolog (S. cerevisiae)"""					15067379	Standard	XM_005248250		Approved	GS3, DNAJA5, JJJ1	uc003jjc.3	Q5F1R6	OTTHUMG00000074103	ENST00000342382.4:c.1520C>G	5.37:g.34954743C>G	ENSP00000343728:p.Ala507Gly					DNAJC21_ENST00000303525.7_Missense_Mutation_p.A520G|DNAJC21_ENST00000342382.4_Missense_Mutation_p.A507G	p.A552G	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		13	1882	+	all_lung(31;7.08e-05)		507					Q3B7J9|Q6P086|Q6ZS43|Q86VC6	Missense_Mutation	SNP	ENST00000342382.4	37	c.1655C>G	CCDS34144.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.522194	0.85600	.	.	ENSG00000168724	ENST00000342382;ENST00000382021;ENST00000303525	T;T;T	0.43688	0.94;0.94;0.94	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.66036	0.2749	M	0.66378	2.025	0.80722	D	1	P;D	0.71674	0.64;0.998	B;D	0.80764	0.339;0.994	T	0.63950	-0.6521	10	0.59425	D	0.04	-25.2092	20.6439	0.99570	0.0:1.0:0.0:0.0	.	507;552	Q5F1R6;Q5F1R6-2	DJC21_HUMAN;.	G	507;552;520	ENSP00000343728:A507G;ENSP00000371451:A552G;ENSP00000306289:A520G	ENSP00000306289:A520G	A	+	2	0	DNAJC21	34990500	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.557000	0.73937	2.890000	0.99128	0.650000	0.86243	GCA		0.408	DNAJC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157337.1	NM_194283		12	75	0	0	0	1	0	12	75				
BRPF1	7862	broad.mit.edu	37	3	9776015	9776015	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr3:9776015A>G	ENST00000457855.1	+	1	202	c.191A>G	c.(190-192)aAg>aGg	p.K64R	BRPF1_ENST00000424362.1_Missense_Mutation_p.K64R|BRPF1_ENST00000302054.3_Missense_Mutation_p.K64R|BRPF1_ENST00000383829.2_Missense_Mutation_p.K64R|BRPF1_ENST00000433861.2_Missense_Mutation_p.K64R			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	64	Interaction with KAT6A and KAT6B.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CACAAGAAAAAGGGGCGCCAG	0.572																																						ENST00000383829.2																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(190-192)aAg>aGg		bromodomain and PHD finger containing, 1							183.0	210.0	201.0					3																	9776015		2203	4300	6503	SO:0001583	missense	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9776015A>G	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.191A>G	3.37:g.9776015A>G	ENSP00000410210:p.Lys64Arg					BRPF1_ENST00000457855.1_Missense_Mutation_p.K64R|BRPF1_ENST00000433861.2_Missense_Mutation_p.K64R|BRPF1_ENST00000302054.3_Missense_Mutation_p.K64R|BRPF1_ENST00000424362.1_Missense_Mutation_p.K64R	p.K64R	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN			2	595	+	Medulloblastoma(99;0.227)		64			Interaction with MYST3 and MYST4.		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	c.191A>G	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	A	16.76	3.211859	0.58452	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000420291;ENST00000426583;ENST00000457855	T;T;T;T;T;T	0.49432	2.16;2.16;3.56;2.16;0.78;2.16	5.73	5.73	0.89815	.	0.051762	0.85682	D	0.000000	T	0.60612	0.2282	L	0.44542	1.39	0.58432	D	0.999993	B;B;B;D	0.69078	0.313;0.28;0.347;0.997	B;B;B;D	0.75020	0.269;0.082;0.146;0.985	T	0.59685	-0.7408	10	0.44086	T	0.13	.	14.9941	0.71415	1.0:0.0:0.0:0.0	.	64;64;64;64	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	R	64	ENSP00000402485:K64R;ENSP00000398863:K64R;ENSP00000373340:K64R;ENSP00000306297:K64R;ENSP00000404235:K64R;ENSP00000410210:K64R	ENSP00000306297:K64R	K	+	2	0	BRPF1	9751015	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.102000	0.77005	2.187000	0.69744	0.460000	0.39030	AAG		0.572	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		3	172	0	0	0	1	0	3	172				
CTNNB1	1499	broad.mit.edu	37	3	41266124	41266124	+	Missense_Mutation	SNP	A	A	G	rs121913412		TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr3:41266124A>G	ENST00000349496.5	+	3	401	c.121A>G	c.(121-123)Acc>Gcc	p.T41A	CTNNB1_ENST00000396183.3_Missense_Mutation_p.T41A|CTNNB1_ENST00000396185.3_Missense_Mutation_p.T41A|CTNNB1_ENST00000405570.1_Missense_Mutation_p.T41A|CTNNB1_ENST00000453024.1_Missense_Mutation_p.T34A	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	41			T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes). {ECO:0000269|PubMed:10391090, ECO:0000269|PubMed:10398436, ECO:0000269|PubMed:10435629, ECO:0000269|PubMed:10655994, ECO:0000269|PubMed:9927029}.|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10391090, ECO:0000269|PubMed:10435629}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.T41A(550)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.T41P(6)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T41S(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.T40_L46del(1)|p.A20_N141del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_T41del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.A39_T42del(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TGGTGCCACTACCACAGCTCC	0.507	T41A(CCK81_LARGE_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5	T41A(CCK81_LARGE_INTESTINE)	15		Dom	yes		3	3p22-p21.3	1499	"""H, Mis, T"""	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""	CTNNB1/PLAG1(60)	681	Substitution - Missense(559)|Deletion - In frame(96)|Complex - deletion inframe(17)|Unknown(7)|Deletion - Frameshift(2)	p.T41A(550)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.T41P(6)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T41S(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.T40_L46del(1)|p.A20_N141del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_T41del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.A39_T42del(1)|p.Y30_A80del(1)	soft_tissue(387)|liver(158)|large_intestine(61)|endometrium(17)|kidney(11)|stomach(8)|biliary_tract(7)|ovary(6)|small_intestine(4)|lung(4)|prostate(4)|adrenal_gland(3)|haematopoietic_and_lymphoid_tissue(3)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|salivary_gland(1)|pituitary(1)|pancreas(1)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(121-123)Acc>Gcc		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						89.0	77.0	81.0					3																	41266124		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41266124A>G	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.121A>G	3.37:g.41266124A>G	ENSP00000344456:p.Thr41Ala					CTNNB1_ENST00000453024.1_Missense_Mutation_p.T34A|CTNNB1_ENST00000396185.3_Missense_Mutation_p.T41A|CTNNB1_ENST00000405570.1_Missense_Mutation_p.T41A|CTNNB1_ENST00000396183.3_Missense_Mutation_p.T41A	p.T41A	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	3	401	+			41		T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes).|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer).			A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.121A>G	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.449381	0.84101	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.63117	0.2484	M	0.79258	2.445	0.80722	D	1	P	0.50943	0.94	P	0.52267	0.694	T	0.68561	-0.5376	10	0.87932	D	0	-8.9189	16.3453	0.83126	1.0:0.0:0.0:0.0	.	41	P35222	CTNB1_HUMAN	A	34;41;41;41;41;34;41;41;41	ENSP00000400508:T34A;ENSP00000385604:T41A;ENSP00000412219:T41A;ENSP00000379486:T41A;ENSP00000344456:T41A;ENSP00000411226:T34A;ENSP00000379488:T41A;ENSP00000409302:T41A;ENSP00000401599:T41A	ENSP00000344456:T41A	T	+	1	0	CTNNB1	41241128	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	9.339000	0.96797	2.261000	0.74972	0.533000	0.62120	ACC		0.507	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		4	40	0	0	0	1	0	4	40				
NECAB3	63941	broad.mit.edu	37	20	32248142	32248142	+	Silent	SNP	C	C	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr20:32248142C>A	ENST00000246190.6	-	6	502	c.447G>T	c.(445-447)acG>acT	p.T149T	C20orf144_ENST00000375222.3_5'Flank|NECAB3_ENST00000375238.4_Silent_p.T149T|NECAB3_ENST00000606525.1_5'UTR|RP1-63M2.6_ENST00000607224.1_RNA	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	149					protein metabolic process (GO:0019538)|protein secretion (GO:0009306)|regulation of amyloid precursor protein biosynthetic process (GO:0042984)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|Golgi cis cisterna (GO:0000137)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			large_intestine(3)|lung(5)|skin(2)	10						GCTGGCTCACCGTCTCCCGCA	0.647																																						ENST00000246190.6																			0				large_intestine(3)|lung(5)|skin(2)	10						c.(445-447)acG>acT		N-terminal EF-hand calcium binding protein 3							49.0	54.0	53.0					20																	32248142		2059	4215	6274	SO:0001819	synonymous_variant	63941				antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	endoplasmic reticulum membrane|Golgi cis cisterna|nucleus	calcium ion binding|oxidoreductase activity|protein binding	g.chr20:32248142C>A	AB039947	CCDS42866.1, CCDS42867.1	20q11.21	2013-01-10	2007-12-06	2007-12-06	ENSG00000125967	ENSG00000125967		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	15851	protein-coding gene	gene with protein product	"""EF-hand calcium binding protein 3"""	612478	"""amyloid beta (A4) precursor protein-binding, family A, member 2 binding protein"""	SYTIP2, APBA2BP		10833507	Standard	NM_031232		Approved	XB51, dJ63M2.4, NIP1, dJ63M2.5, EFCBP3	uc002wzn.4	Q96P71	OTTHUMG00000032264	ENST00000246190.6:c.447G>T	20.37:g.32248142C>A						NECAB3_ENST00000606525.1_5'UTR|NECAB3_ENST00000375238.4_Silent_p.T149T	p.T149T	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN			6	502	-			149					A8K780|E1P5N2|Q5JWF5|Q5JWF6|Q5JWF7|Q86VV1|Q9H433|Q9H8G8|Q9HBW7|Q9HCQ9	Silent	SNP	ENST00000246190.6	37	c.447G>T	CCDS42866.1																																																																																				0.647	NECAB3-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078724.2			3	67	1	0	0.150653	1	0.155675	3	67				
HCN1	348980	broad.mit.edu	37	5	45645595	45645595	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr5:45645595C>A	ENST00000303230.4	-	2	598	c.541G>T	c.(541-543)Gca>Tca	p.A181S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	181					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GTATCTGATGCCACATTGAAA	0.373																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(541-543)Gca>Tca		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							88.0	87.0	87.0					5																	45645595		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45645595C>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.541G>T	5.37:g.45645595C>A	ENSP00000307342:p.Ala181Ser						p.A181S	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			2	598	-			181						Missense_Mutation	SNP	ENST00000303230.4	37	c.541G>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.083997	0.55861	.	.	ENSG00000164588	ENST00000303230	D	0.98550	-4.99	5.37	5.37	0.77165	Ion transport (1);	0.000000	0.64402	D	0.000018	D	0.96525	0.8866	L	0.41573	1.285	0.53688	D	0.999977	B	0.02656	0.0	B	0.16722	0.016	D	0.93552	0.6887	10	0.52906	T	0.07	.	19.1028	0.93281	0.0:1.0:0.0:0.0	.	181	O60741	HCN1_HUMAN	S	181	ENSP00000307342:A181S	ENSP00000307342:A181S	A	-	1	0	HCN1	45681352	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.920000	0.70017	2.520000	0.84964	0.555000	0.69702	GCA		0.373	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		19	61	1	0	1.90627e-21	1	2.14888e-21	19	61				
VILL	50853	broad.mit.edu	37	3	38047428	38047428	+	Missense_Mutation	SNP	T	T	C	rs142814627		TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr3:38047428T>C	ENST00000283713.6	+	17	2362	c.2096T>C	c.(2095-2097)aTt>aCt	p.I699T	VILL_ENST00000383759.2_Missense_Mutation_p.I699T|VILL_ENST00000465644.1_Missense_Mutation_p.I417T			O15195	VILL_HUMAN	villin-like	699					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CCCACCTTCATTGGATGGTTC	0.612													T|||	1	0.000199681	0.0	0.0014	5008	,	,		19700	0.0		0.0	False		,,,				2504	0.0					ENST00000283713.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28						c.(2095-2097)aTt>aCt		villin-like		T	THR/ILE	0,4406		0,0,2203	95.0	92.0	93.0		2096	2.5	0.6	3	dbSNP_134	93	8,8592	6.4+/-24.3	0,8,4292	yes	missense	VILL	NM_015873.3	89	0,8,6495	CC,CT,TT		0.093,0.0,0.0615	benign	699/857	38047428	8,12998	2203	4300	6503	SO:0001583	missense	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38047428T>C		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.2096T>C	3.37:g.38047428T>C	ENSP00000283713:p.Ile699Thr					VILL_ENST00000383759.2_Missense_Mutation_p.I699T|VILL_ENST00000465644.1_Missense_Mutation_p.I417T	p.I699T			O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	17	2362	+			699					A8MZP1|Q9BT80|Q9BWH7	Missense_Mutation	SNP	ENST00000283713.6	37	c.2096T>C	CCDS2670.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	T	1.463	-0.561859	0.03939	0.0	9.3E-4	ENSG00000136059	ENST00000283713;ENST00000383759;ENST00000356246;ENST00000465644	T;T;T	0.56444	0.46;0.46;0.46	4.26	2.45	0.29901	Gelsolin domain (1);	0.160595	0.53938	N	0.000041	T	0.15782	0.0380	N	0.00563	-1.375	0.22675	N	0.998865	B	0.02656	0.0	B	0.01281	0.0	T	0.35351	-0.9792	10	0.02654	T	1	-1.6107	10.3836	0.44125	0.0:0.8337:0.0:0.1663	.	699	O15195	VILL_HUMAN	T	699;699;685;417	ENSP00000283713:I699T;ENSP00000373266:I699T;ENSP00000422096:I417T	ENSP00000283713:I699T	I	+	2	0	VILL	38022432	0.998000	0.40836	0.612000	0.29024	0.791000	0.44710	3.994000	0.56994	0.380000	0.24823	-0.414000	0.06135	ATT		0.612	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		47	88	0	0	0	1	0	47	88				
TBX3	6926	broad.mit.edu	37	12	115109860	115109860	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr12:115109860T>C	ENST00000257566.3	-	8	2407	c.2018A>G	c.(2017-2019)aAa>aGa	p.K673R	TBX3_ENST00000349155.2_Missense_Mutation_p.K653R	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	673	Transcription repression.				anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GGCGGCGACTTTGCCGTCCAG	0.716																																						ENST00000349155.2																			0				breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1957-1959)aAa>aGa		T-box 3							8.0	9.0	9.0					12																	115109860		2114	4124	6238	SO:0001583	missense	6926				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	g.chr12:115109860T>C	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.2018A>G	12.37:g.115109860T>C	ENSP00000257566:p.Lys673Arg					TBX3_ENST00000257566.3_Missense_Mutation_p.K673R	p.K653R	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	7	2921	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		673			Transcription repression.		Q8TB20|Q9UKF8	Missense_Mutation	SNP	ENST00000257566.3	37	c.1958A>G	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	T	12.57	1.977516	0.34848	.	.	ENSG00000135111	ENST00000349155;ENST00000257566	D;D	0.88664	-2.4;-2.41	4.93	4.93	0.64822	.	2.540680	0.00945	N	0.002898	D	0.92371	0.7579	L	0.33485	1.01	0.49389	D	0.999787	B;D	0.63880	0.328;0.993	B;D	0.70935	0.124;0.971	T	0.80582	-0.1318	10	0.30078	T	0.28	.	13.7594	0.62956	0.0:0.0:0.0:1.0	.	653;673	O15119-2;O15119	.;TBX3_HUMAN	R	653;673	ENSP00000257567:K653R;ENSP00000257566:K673R	ENSP00000257566:K673R	K	-	2	0	TBX3	113594243	1.000000	0.71417	0.993000	0.49108	0.354000	0.29330	4.438000	0.59961	1.856000	0.53863	0.533000	0.62120	AAA		0.716	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		3	4	0	0	0	1	0	3	4				
MED12L	116931	broad.mit.edu	37	3	151067883	151067883	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr3:151067883A>G	ENST00000474524.1	+	15	2220	c.2182A>G	c.(2182-2184)Atc>Gtc	p.I728V	MED12L_ENST00000273432.4_Missense_Mutation_p.I588V|MED12L_ENST00000491549.1_3'UTR|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	728						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCAGCGCACAATCCTTCTCTA	0.423																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(2182-2184)Atc>Gtc		mediator complex subunit 12-like							227.0	233.0	231.0					3																	151067883		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151067883A>G	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.2182A>G	3.37:g.151067883A>G	ENSP00000417235:p.Ile728Val					MED12L_ENST00000491549.1_3'UTR|MED12L_ENST00000273432.4_Missense_Mutation_p.I588V|P2RY12_ENST00000302632.3_Intron	p.I728V	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		15	2220	+			728					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.2182A>G	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	A	3.397	-0.123005	0.06795	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.30981	1.51;1.51	5.81	3.45	0.39498	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.121286	0.56097	N	0.000022	T	0.11452	0.0279	N	0.03930	-0.32	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.15484	0.013;0.005	T	0.11717	-1.0576	10	0.08837	T	0.75	-13.2209	8.2534	0.31739	0.7823:0.0:0.2177:0.0	.	588;728	F8WAE6;Q86YW9	.;MD12L_HUMAN	V	728;588	ENSP00000417235:I728V;ENSP00000273432:I588V	ENSP00000273432:I588V	I	+	1	0	MED12L	152550573	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.901000	0.56303	0.475000	0.27415	0.455000	0.32223	ATC		0.423	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		88	205	0	0	0	1	0	88	205				
UNC80	285175	broad.mit.edu	37	2	210654289	210654289	+	Missense_Mutation	SNP	G	G	A	rs547993640		TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr2:210654289G>A	ENST00000439458.1	+	6	838	c.758G>A	c.(757-759)cGg>cAg	p.R253Q	UNC80_ENST00000272845.6_Missense_Mutation_p.R253Q|UNC80_ENST00000478701.1_3'UTR	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	253					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R253Q(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						AGTCAAAGCCGGACCTGTGAA	0.368																																						ENST00000439458.1																			1	Substitution - Missense(1)	p.R253Q(1)	ovary(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						c.(757-759)cGg>cAg		unc-80 homolog (C. elegans)							111.0	117.0	115.0					2																	210654289		2203	4300	6503	SO:0001583	missense	285175					integral to membrane		g.chr2:210654289G>A	AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.758G>A	2.37:g.210654289G>A	ENSP00000391088:p.Arg253Gln					UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.5_Missense_Mutation_p.R253Q	p.R253Q	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN			6	838	+			253					B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Missense_Mutation	SNP	ENST00000439458.1	37	c.758G>A	CCDS46504.1	.	.	.	.	.	.	.	.	.	.	g	0.852	-0.738409	0.03111	.	.	ENSG00000144406	ENST00000439458;ENST00000281753;ENST00000272845	T;T	0.28255	1.62;1.62	5.29	2.81	0.32909	.	0.508541	0.19936	N	0.102755	T	0.07999	0.0200	N	0.00707	-1.245	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34354	-0.9832	10	0.02654	T	1	.	10.9522	0.47336	0.9061:0.0:0.0939:0.0	.	253;253	Q8N2C7;Q8N2C7-3	UNC80_HUMAN;.	Q	253	ENSP00000391088:R253Q;ENSP00000272845:R253Q	ENSP00000272845:R253Q	R	+	2	0	UNC80	210362534	0.866000	0.29940	1.000000	0.80357	0.333000	0.28666	1.090000	0.30902	0.283000	0.22279	-0.320000	0.08662	CGG		0.368	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_182587		11	117	0	0	0	1	0	11	117				
CERS4	79603	broad.mit.edu	37	19	8321856	8321856	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr19:8321856C>G	ENST00000251363.5	+	9	936	c.636C>G	c.(634-636)caC>caG	p.H212Q	CERS4_ENST00000559450.1_Missense_Mutation_p.H212Q|CERS4_ENST00000558331.1_Missense_Mutation_p.H161Q|CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000559336.1_Missense_Mutation_p.H212Q	NM_024552.2	NP_078828.2	Q9HA82	CERS4_HUMAN	ceramide synthase 4	212	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										AGGTGATACACCACTTCGTGG	0.567																																						ENST00000558331.1																			0											c.(481-483)caC>caG		ceramide synthase 4							268.0	256.0	260.0					19																	8321856		2203	4300	6503	SO:0001583	missense	79603					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr19:8321856C>G		CCDS12197.1	19p13.2	2014-09-11	2011-07-08	2011-07-08	ENSG00000090661	ENSG00000090661		"""Homeoboxes / CERS class"""	23747	protein-coding gene	gene with protein product		615334	"""LAG1 longevity assurance homolog 4 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 4"""	LASS4			Standard	NM_024552		Approved	FLJ12089, Trh1	uc002mjg.3	Q9HA82	OTTHUMG00000172570	ENST00000251363.5:c.636C>G	19.37:g.8321856C>G	ENSP00000251363:p.His212Gln					CERS4_ENST00000559336.1_Missense_Mutation_p.H212Q|CERS4_ENST00000251363.5_Missense_Mutation_p.H212Q|CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000559450.1_Missense_Mutation_p.H212Q	p.H161Q			Q9HA82	CERS4_HUMAN			9	942	+			212			TLC.		D6W665	Missense_Mutation	SNP	ENST00000251363.5	37	c.483C>G	CCDS12197.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040125	0.35989	.	.	ENSG00000090661	ENST00000251363	D	0.95622	-3.76	4.92	-2.73	0.05950	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.85682	D	0.000000	D	0.98005	0.9343	H	0.97491	4.015	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96656	0.9485	10	0.87932	D	0	-31.6962	10.3149	0.43732	0.0:0.4639:0.0:0.5361	.	212;212	Q53HF9;Q9HA82	.;CERS4_HUMAN	Q	212	ENSP00000251363:H212Q	ENSP00000251363:H212Q	H	+	3	2	CERS4	8227856	0.115000	0.22152	0.362000	0.25862	0.015000	0.08874	-0.628000	0.05515	-0.517000	0.06461	-0.415000	0.06103	CAC		0.567	CERS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419200.1	NM_024552		14	423	0	0	0	1	0	14	423				
ELOVL6	79071	broad.mit.edu	37	4	110972797	110972797	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr4:110972797C>T	ENST00000394607.3	-	5	658	c.495G>A	c.(493-495)tgG>tgA	p.W165*	ELOVL6_ENST00000302274.3_Nonsense_Mutation_p.W165*			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	165					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty acid biosynthetic process (GO:0042759)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		TAGTCATGAACCAACCTCCCC	0.522																																						ENST00000394607.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(493-495)tgG>tgA		ELOVL fatty acid elongase 6							68.0	60.0	63.0					4																	110972797		2203	4300	6503	SO:0001587	stop_gained	79071				fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding	g.chr4:110972797C>T	AK027031	CCDS3690.1	4q25	2011-05-25	2011-05-25		ENSG00000170522	ENSG00000170522			15829	protein-coding gene	gene with protein product		611546	"""ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"""			11567032	Standard	NM_024090		Approved	FLJ23378, MGC5487, LCE	uc003hzz.3	Q9H5J4	OTTHUMG00000132547	ENST00000394607.3:c.495G>A	4.37:g.110972797C>T	ENSP00000378105:p.Trp165*					ELOVL6_ENST00000302274.3_Nonsense_Mutation_p.W165*	p.W165*			Q9H5J4	ELOV6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00462)	5	658	-			165					Q4W5L0|Q8NCD1	Nonsense_Mutation	SNP	ENST00000394607.3	37	c.495G>A	CCDS3690.1	.	.	.	.	.	.	.	.	.	.	C	34	5.396878	0.96009	.	.	ENSG00000170522	ENST00000394607;ENST00000302274	.	.	.	5.97	5.12	0.69794	.	0.205916	0.53938	D	0.000044	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.053	16.5667	0.84600	0.1316:0.8684:0.0:0.0	.	.	.	.	X	165	.	ENSP00000304736:W165X	W	-	3	0	ELOVL6	111192246	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.770000	0.85390	1.497000	0.48584	0.655000	0.94253	TGG		0.522	ELOVL6-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255748.1	NM_024090		18	54	0	0	0	1	0	18	54				
FAM21C	253725	broad.mit.edu	37	10	46261197	46261197	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr10:46261197C>T	ENST00000336378.4	+	19	1926	c.1808C>T	c.(1807-1809)gCa>gTa	p.A603V	FAM21C_ENST00000359860.4_Missense_Mutation_p.A547V|FAM21C_ENST00000540872.1_Missense_Mutation_p.A603V|FAM21C_ENST00000537517.1_Missense_Mutation_p.A579V|FAM21C_ENST00000374362.2_Missense_Mutation_p.A603V	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	603					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GAAGAGAAAGCAAAAGCCTCC	0.443																																						ENST00000336378.4																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(1807-1809)gCa>gTa		family with sequence similarity 21, member C							104.0	102.0	103.0					10																	46261197		1815	4071	5886	SO:0001583	missense	253725							g.chr10:46261197C>T		CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.1808C>T	10.37:g.46261197C>T	ENSP00000337541:p.Ala603Val					FAM21C_ENST00000537517.1_Missense_Mutation_p.A579V|FAM21C_ENST00000374362.2_Missense_Mutation_p.A603V|FAM21C_ENST00000359860.4_Missense_Mutation_p.A547V|FAM21C_ENST00000540872.1_Missense_Mutation_p.A603V	p.A603V	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN			19	1926	+			603					B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Missense_Mutation	SNP	ENST00000336378.4	37	c.1808C>T		.	.	.	.	.	.	.	.	.	.	C	8.784	0.929062	0.18131	.	.	ENSG00000172661	ENST00000336378;ENST00000540872;ENST00000537517;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000436993	.	.	.	3.18	3.18	0.36537	.	0.426666	0.25358	N	0.031246	T	0.51856	0.1699	M	0.76574	2.34	0.35122	D	0.767184	B;B;B;P	0.43662	0.161;0.088;0.088;0.814	B;B;B;B	0.42214	0.116;0.029;0.029;0.38	T	0.64863	-0.6307	9	0.36615	T	0.2	-2.7848	10.06	0.42268	0.0:1.0:0.0:0.0	.	579;603;603;548	F5H871;Q9Y4E1-4;Q9Y4E1;Q9Y4E1-3	.;.;FA21C_HUMAN;.	V	603;603;579;603;603;547;515	.	ENSP00000337541:A603V	A	+	2	0	FAM21C	45581203	0.990000	0.36364	0.867000	0.34043	0.507000	0.33981	1.376000	0.34306	1.797000	0.52628	0.494000	0.49563	GCA		0.443	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				15	92	0	0	0	1	0	15	92				
IL4	3565	broad.mit.edu	37	5	132010172	132010172	+	Missense_Mutation	SNP	G	G	A	rs56279116	byFrequency	TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr5:132010172G>A	ENST00000231449.2	+	2	222	c.157G>A	c.(157-159)Gta>Ata	p.V53I	IL4_ENST00000350025.2_Intron|IL4_ENST00000495905.1_3'UTR	NM_000589.3	NP_000580.1	P05112	IL4_HUMAN	interleukin 4	53					B cell costimulation (GO:0031296)|B cell differentiation (GO:0030183)|cellular defense response (GO:0006968)|cellular response to mercury ion (GO:0071288)|chemotaxis (GO:0006935)|cholesterol metabolic process (GO:0008203)|connective tissue growth factor biosynthetic process (GO:0045189)|defense response to protozoan (GO:0042832)|dendritic cell differentiation (GO:0097028)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|female pregnancy (GO:0007565)|immune response (GO:0006955)|innate immune response in mucosa (GO:0002227)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chronic inflammatory response (GO:0002677)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of macrophage activation (GO:0043031)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of T-helper 17 cell differentiation (GO:2000320)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of immune response (GO:0050776)|regulation of isotype switching (GO:0045191)|regulation of phosphorylation (GO:0042325)|regulation of proton transport (GO:0010155)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|T-helper 1 cell lineage commitment (GO:0002296)|T-helper 2 cell cytokine production (GO:0035745)|T-helper 2 cell differentiation (GO:0045064)|type 2 immune response (GO:0042092)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|interleukin-4 receptor binding (GO:0005136)			NS(1)|large_intestine(3)|lung(3)|prostate(1)	8		all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.00245)		CGAGTTGACCGTAACAGACAT	0.498													G|||	7	0.00139776	0.0008	0.0	5008	,	,		20842	0.005		0.0	False		,,,				2504	0.001					ENST00000231449.2																			0				NS(1)|large_intestine(3)|lung(3)|prostate(1)	8						c.(157-159)Gta>Ata		interleukin 4							145.0	129.0	134.0					5																	132010172		2203	4300	6503	SO:0001583	missense	3565				B cell differentiation|cellular defense response|chemotaxis|cholesterol metabolic process|connective tissue growth factor biosynthetic process|negative regulation of apoptosis|negative regulation of osteoclast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of interleukin-13 production|positive regulation of isotype switching to IgE isotypes|positive regulation of isotype switching to IgG isotypes|positive regulation of MHC class II biosynthetic process|positive regulation of T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|T-helper 2 cell cytokine production	extracellular space	cytokine activity|growth factor activity|interleukin-4 receptor binding	g.chr5:132010172G>A	M23442	CCDS4158.1, CCDS4159.1	5q23-q31	2011-07-14			ENSG00000113520	ENSG00000113520		"""Interleukins and interleukin receptors"""	6014	protein-coding gene	gene with protein product	"""B_cell stimulatory factor 1"", ""lymphocyte stimulatory factor 1"", ""B cell growth factor 1"""	147780				3016727	Standard	NM_000589		Approved	BSF1, IL-4, BCGF1, BCGF-1, MGC79402	uc003kxk.2	P05112	OTTHUMG00000059724	ENST00000231449.2:c.157G>A	5.37:g.132010172G>A	ENSP00000231449:p.Val53Ile					IL4_ENST00000495905.1_3'UTR|IL4_ENST00000350025.2_Intron	p.V53I	NM_000589.3	NP_000580.1	P05112	IL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.00245)	2	222	+		all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198)	53					Q14630|Q6NZ77	Missense_Mutation	SNP	ENST00000231449.2	37	c.157G>A	CCDS4158.1	5	0.0022893772893772895	1	0.0020325203252032522	0	0.0	4	0.006993006993006993	0	0.0	G	10.61	1.397483	0.25205	.	.	ENSG00000113520	ENST00000231449	T	0.57273	0.41	5.57	1.69	0.24217	Four-helical cytokine-like, core (1);Interleukin-4/interleukin-13, conserved site (1);Four-helical cytokine, core (1);	0.309039	0.23491	N	0.047615	T	0.26376	0.0644	N	0.17345	0.48	0.22213	N	0.999286	B	0.20052	0.041	B	0.23419	0.046	T	0.17379	-1.0371	10	0.42905	T	0.14	-9.9053	9.418	0.38534	0.2775:0.0:0.7225:0.0	rs56279116	53	P05112	IL4_HUMAN	I	53	ENSP00000231449:V53I	ENSP00000231449:V53I	V	+	1	0	IL4	132038071	0.039000	0.19947	0.000000	0.03702	0.000000	0.00434	0.745000	0.26259	0.025000	0.15241	-0.940000	0.02684	GTA		0.498	IL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132786.1	NM_000589		3	101	0	0	0	1	0	3	101				
FBXO38	81545	broad.mit.edu	37	5	147781990	147781990	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr5:147781990G>A	ENST00000340253.5	+	5	674	c.506G>A	c.(505-507)cGt>cAt	p.R169H	FBXO38_ENST00000296701.6_Missense_Mutation_p.R169H|FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000513826.1_Missense_Mutation_p.R169H|FBXO38_ENST00000394370.3_Missense_Mutation_p.R169H			Q6PIJ6	FBX38_HUMAN	F-box protein 38	169					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R169H(1)	ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAAATTTCGTAATCGTAAT	0.353																																						ENST00000340253.5																		ATG4C/FBXO38(2)	1	Substitution - Missense(1)	p.R169H(1)	breast(1)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51						c.(505-507)cGt>cAt		F-box protein 38							131.0	131.0	131.0					5																	147781990		2203	4300	6503	SO:0001583	missense	81545					cytoplasm|nucleus		g.chr5:147781990G>A	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.506G>A	5.37:g.147781990G>A	ENSP00000342023:p.Arg169His					FBXO38_ENST00000394370.3_Missense_Mutation_p.R169H|FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000296701.6_Missense_Mutation_p.R169H|FBXO38_ENST00000513826.1_Missense_Mutation_p.R169H	p.R169H			Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	674	+			169					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	ENST00000340253.5	37	c.506G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.666486	0.96745	.	.	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	T;T;T;T	0.38077	1.16;5.48;1.17;5.48	5.76	5.76	0.90799	.	0.054297	0.64402	D	0.000001	T	0.47581	0.1453	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.997	D;P;P	0.62955	0.909;0.809;0.799	T	0.44697	-0.9311	10	0.72032	D	0.01	-15.2077	18.8946	0.92419	0.0:0.0:1.0:0.0	.	169;169;169	Q6PIJ6-3;Q6PIJ6-2;Q6PIJ6	.;.;FBX38_HUMAN	H	169	ENSP00000342023:R169H;ENSP00000296701:R169H;ENSP00000377895:R169H;ENSP00000426410:R169H	ENSP00000296701:R169H	R	+	2	0	FBXO38	147762183	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.638000	0.83328	2.871000	0.98454	0.655000	0.94253	CGT		0.353	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		4	78	0	0	0	1	0	4	78				
TMCC1	23023	broad.mit.edu	37	3	129389968	129389968	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr3:129389968T>C	ENST00000393238.3	-	4	1056	c.716A>G	c.(715-717)cAg>cGg	p.Q239R	TMCC1_ENST00000432054.2_5'UTR|TMCC1_ENST00000329333.5_Missense_Mutation_p.Q60R|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q125R	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	239						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CAGGATCTTCTGCTGCAGGTG	0.527																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(715-717)cAg>cGg		transmembrane and coiled-coil domain family 1							193.0	190.0	191.0					3																	129389968		2203	4300	6503	SO:0001583	missense	23023					integral to membrane		g.chr3:129389968T>C	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.716A>G	3.37:g.129389968T>C	ENSP00000376930:p.Gln239Arg					TMCC1_ENST00000329333.5_Missense_Mutation_p.Q60R|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q125R|TMCC1_ENST00000432054.2_5'UTR	p.Q239R	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			4	1056	-			239					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	c.716A>G	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.512518	0.85389	.	.	ENSG00000172765	ENST00000393238;ENST00000426664;ENST00000329333	T;T;T	0.50277	0.75;0.75;0.75	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.71281	0.3321	M	0.83603	2.65	0.80722	D	1	D;D	0.67145	0.996;0.985	D;D	0.85130	0.997;0.982	T	0.74318	-0.3704	10	0.49607	T	0.09	-29.0987	15.999	0.80275	0.0:0.0:0.0:1.0	.	60;239	B4DE04;O94876	.;TMCC1_HUMAN	R	239;125;60	ENSP00000376930:Q239R;ENSP00000389892:Q125R;ENSP00000327349:Q60R	ENSP00000327349:Q60R	Q	-	2	0	TMCC1	130872658	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.965000	0.87945	2.241000	0.73720	0.482000	0.46254	CAG		0.527	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		31	178	0	0	0	1	0	31	178				
ANGEL2	90806	broad.mit.edu	37	1	213186710	213186710	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr1:213186710G>A	ENST00000366962.3	-	2	264	c.110C>T	c.(109-111)aCa>aTa	p.T37I	ANGEL2_ENST00000360506.2_Intron|ANGEL2_ENST00000544555.1_Intron|ANGEL2_ENST00000535388.1_Intron|ANGEL2_ENST00000540642.1_Intron	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	37										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		CTCCCACGGTGTAGTCCAGTC	0.458																																						ENST00000366962.3																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24						c.(109-111)aCa>aTa		angel homolog 2 (Drosophila)							123.0	122.0	122.0					1																	213186710		2203	4300	6503	SO:0001583	missense	90806							g.chr1:213186710G>A	AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.110C>T	1.37:g.213186710G>A	ENSP00000355929:p.Thr37Ile					ANGEL2_ENST00000535388.1_Intron|ANGEL2_ENST00000540642.1_Intron|ANGEL2_ENST00000544555.1_Intron|ANGEL2_ENST00000360506.2_Intron	p.T37I	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)	2	264	-			37					B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Missense_Mutation	SNP	ENST00000366962.3	37	c.110C>T	CCDS1512.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039629	0.55003	.	.	ENSG00000174606	ENST00000366962;ENST00000310246	T	0.25579	1.79	5.83	4.91	0.64330	.	0.246709	0.39834	N	0.001244	T	0.15869	0.0382	L	0.27053	0.805	0.80722	D	1	B;P	0.40731	0.1;0.728	B;B	0.35114	0.074;0.196	T	0.04153	-1.0973	10	0.40728	T	0.16	-4.3685	9.0719	0.36497	0.2181:0.0:0.7819:0.0	.	15;37	Q96AL9;Q5VTE6	.;ANGE2_HUMAN	I	37;15	ENSP00000355929:T37I	ENSP00000309755:T15I	T	-	2	0	ANGEL2	211253333	0.981000	0.34729	1.000000	0.80357	0.997000	0.91878	3.254000	0.51477	1.451000	0.47736	0.563000	0.77884	ACA		0.458	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089693.1	NM_144567		4	141	0	0	0	1	0	4	141				
RP11-156P1.2	0	broad.mit.edu	37	17	45127107	45127107	+	IGR	SNP	C	C	G	rs374963948		TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr17:45127107C>G	ENST00000571841.1	+	0	889				LRRC37A17P_ENST00000570478.1_RNA|RP11-156P1.3_ENST00000575173.1_RNA																							CCTTCGTTCACCCAAGAGCAT	0.592																																						ENST00000575173.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:45127107C>G																													17.37:g.45127107C>G														0	418	-									RNA	SNP	ENST00000571841.1	37																																																																																						0.592	RP11-156P1.2-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000440447.1			3	80	0	0	0	1	0	3	80				
IL7R	3575	broad.mit.edu	37	5	35876450	35876450	+	Silent	SNP	G	G	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr5:35876450G>C	ENST00000303115.3	+	8	1371	c.1242G>C	c.(1240-1242)acG>acC	p.T414T	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	414			T -> M (in dbSNP:rs2229232).		B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CAAACAGCACGCTGCCCCCTC	0.522			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																															ENST00000303115.3				Dom	yes		5	5p13	146661	"""Mis, O"""	interleukin 7 receptor	yes	Severe combined immune deficiency	L			"""ALL, ETP ALL"""		0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126						c.(1240-1242)acG>acC		interleukin 7 receptor							92.0	80.0	84.0					5																	35876450		2203	4300	6503	SO:0001819	synonymous_variant	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35876450G>C	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.1242G>C	5.37:g.35876450G>C						IL7R_ENST00000343305.4_3'UTR	p.T414T	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		8	1371	+	all_lung(31;0.00015)		414		T -> M (in dbSNP:rs2229232).			B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Silent	SNP	ENST00000303115.3	37	c.1242G>C	CCDS3911.1																																																																																				0.522	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			3	69	0	0	0	1	0	3	69				
GPR148	344561	broad.mit.edu	37	2	131487419	131487419	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr2:131487419C>T	ENST00000309926.4	+	1	777	c.695C>T	c.(694-696)aCa>aTa	p.T232I		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					TTCCTCTGCACAGCTCTCATT	0.572																																						ENST00000309926.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27						c.(694-696)aCa>aTa		G protein-coupled receptor 148							142.0	137.0	138.0					2																	131487419		2203	4300	6503	SO:0001583	missense	344561					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:131487419C>T	AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"""GPCR / Class A : Orphans"""	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.695C>T	2.37:g.131487419C>T	ENSP00000308908:p.Thr232Ile						p.T232I	NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN			1	777	+	Colorectal(110;0.1)		232					Q2M369|Q86SP7|Q86U87	Missense_Mutation	SNP	ENST00000309926.4	37	c.695C>T	CCDS2163.1	.	.	.	.	.	.	.	.	.	.	.	3.246	-0.154212	0.06585	.	.	ENSG00000173302	ENST00000309926	T	0.36157	1.27	2.8	-0.439	0.12264	GPCR, rhodopsin-like superfamily (1);	0.811143	0.09930	U	0.737342	T	0.19644	0.0472	N	0.08118	0	0.09310	N	1	B	0.18013	0.025	B	0.21360	0.034	T	0.25537	-1.0129	10	0.59425	D	0.04	1.7294	9.6334	0.39793	0.0:0.7734:0.0:0.2266	.	232	Q8TDV2	GP148_HUMAN	I	232	ENSP00000308908:T232I	ENSP00000308908:T232I	T	+	2	0	GPR148	131203889	0.000000	0.05858	0.002000	0.10522	0.649000	0.38597	-0.072000	0.11486	-0.382000	0.07870	-0.628000	0.03992	ACA		0.572	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092		18	142	0	0	0	1	0	18	142				
AKT2	208	broad.mit.edu	37	19	40744879	40744879	+	Splice_Site	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr19:40744879G>A	ENST00000392038.2	-	8	939	c.641C>T	c.(640-642)gCg>gTg	p.A214V	AKT2_ENST00000424901.1_Splice_Site_p.A214V|AKT2_ENST00000311278.6_Splice_Site_p.A214V|AKT2_ENST00000579047.1_Splice_Site_p.A152V	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	214	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			ATACTTCAGCGCCTGGGGGAT	0.642			A		"""ovarian, pancreatic """																																	ENST00000392038.2				Dom	yes		19	19q13.1-q13.2	208	A	v-akt murine thymoma viral oncogene homolog 2			E			"""ovarian, pancreatic """		0				breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27						c.e8-1		v-akt murine thymoma viral oncogene homolog 2							80.0	75.0	77.0					19																	40744879		2203	4300	6503	SO:0001630	splice_region_variant	208				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr19:40744879G>A	M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.640-1C>T	19.37:g.40744879G>A						AKT2_ENST00000424901.1_Splice_Site_p.A214_splice|AKT2_ENST00000311278.6_Splice_Site_p.A214_splice|AKT2_ENST00000579047.1_Splice_Site_p.A152_splice	p.A214_splice	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	Lung(22;0.000499)		8	939	-			214			Protein kinase.		B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Splice_Site	SNP	ENST00000392038.2	37	c.639_splice	CCDS12552.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466531	0.43839	.	.	ENSG00000105221	ENST00000392038;ENST00000391844;ENST00000424901;ENST00000311278;ENST00000391845	T;T;T	0.25579	1.79;1.79;1.79	4.96	4.96	0.65561	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.148318	0.64402	D	0.000009	T	0.18045	0.0433	N	0.12746	0.255	0.50632	D	0.99988	B;B;B	0.19817	0.016;0.034;0.039	B;B;B	0.18871	0.004;0.023;0.003	T	0.06127	-1.0844	10	0.66056	D	0.02	.	17.4821	0.87675	0.0:0.0:1.0:0.0	.	152;214;214	B4DG79;Q0VAN0;P31751	.;.;AKT2_HUMAN	V	214;115;214;214;34	ENSP00000375892:A214V;ENSP00000399532:A214V;ENSP00000309428:A214V	ENSP00000309428:A214V	A	-	2	0	AKT2	45436719	1.000000	0.71417	0.962000	0.40283	0.108000	0.19459	6.534000	0.73833	2.731000	0.93534	0.655000	0.94253	GCG		0.642	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268029.1	NM_001626	Missense_Mutation	4	105	0	0	0	1	0	4	105				
GNAS	2778	broad.mit.edu	37	20	57415297	57415297	+	Missense_Mutation	SNP	G	G	T	rs557714686		TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr20:57415297G>T	ENST00000313949.7	+	1	525	c.136G>T	c.(136-138)Gcc>Tcc	p.A46S	GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.A46S|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371098.2_Missense_Mutation_p.A46S|GNAS-AS1_ENST00000443966.1_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCGCGCCCTTGCCACCTCCAA	0.697			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000313949.7				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""	E			pituitary adenoma		0				adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(136-138)Gcc>Tcc		GNAS complex locus							23.0	29.0	27.0					20																	57415297		2199	4287	6486	SO:0001583	missense	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57415297G>T	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000313949.7:c.136G>T	20.37:g.57415297G>T	ENSP00000323571:p.Ala46Ser	TSP Lung(22;0.16)				GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.A46S|GNAS_ENST00000371098.2_Missense_Mutation_p.A46S|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000598163.1_RNA	p.A46S			P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	525	+	all_lung(29;0.0104)		0					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000313949.7	37	c.136G>T	CCDS13471.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.371518	0.61624	.	.	ENSG00000087460	ENST00000313949;ENST00000371098;ENST00000371075	.	.	.	3.72	3.72	0.42706	.	.	.	.	.	T	0.60766	0.2294	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.62821	-0.6773	8	0.59425	D	0.04	.	11.3015	0.49309	0.0:0.0:1.0:0.0	.	46	O95467	GNAS3_HUMAN	S	46	.	ENSP00000323571:A46S	A	+	1	0	GNAS	56848692	0.995000	0.38212	0.943000	0.38184	0.987000	0.75469	3.731000	0.55013	2.390000	0.81377	0.460000	0.39030	GCC		0.697	GNAS-002	KNOWN	NMD_exception|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080418.7	NM_000516		3	45	1	0	1	1	1	3	45				
LNX1	84708	broad.mit.edu	37	4	54440053	54440053	+	Silent	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr4:54440053G>A	ENST00000263925.7	-	2	431	c.117C>T	c.(115-117)ctC>ctT	p.L39L	FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000504605.1_5'Flank	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	39					protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGTGGCAGATGAGGTCATCAT	0.572																																						ENST00000263925.7																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32						c.(115-117)ctC>ctT		ligand of numb-protein X 1, E3 ubiquitin protein ligase							42.0	39.0	40.0					4																	54440053		1568	3582	5150	SO:0001819	synonymous_variant	84708					cytoplasm	zinc ion binding	g.chr4:54440053G>A	AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"""RING-type (C3HC4) zinc fingers"""	6657	protein-coding gene	gene with protein product		609732	"""ligand of numb-protein X"", ""ligand of numb-protein X 1"""	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.117C>T	4.37:g.54440053G>A						FIP1L1_ENST00000507166.1_Intron	p.L39L	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)		2	431	-	all_neural(26;0.153)		39					Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Silent	SNP	ENST00000263925.7	37	c.117C>T	CCDS47057.1																																																																																				0.572	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2			17	35	0	0	0	1	0	17	35				
CEP85L	387119	broad.mit.edu	37	6	118790285	118790285	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr6:118790285T>C	ENST00000368491.3	-	12	2825	c.2204A>G	c.(2203-2205)cAg>cGg	p.Q735R	CEP85L_ENST00000368488.5_Missense_Mutation_p.Q738R	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	735						centrosome (GO:0005813)|cytoplasm (GO:0005737)											CTGAGCACGCTGATTAAGAAT	0.383																																						ENST00000368491.3																			0											c.(2203-2205)cAg>cGg		centrosomal protein 85kDa-like							97.0	95.0	96.0					6																	118790285		1991	4187	6178	SO:0001583	missense	387119					centrosome		g.chr6:118790285T>C	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 204"""	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.2204A>G	6.37:g.118790285T>C	ENSP00000357477:p.Gln735Arg					CEP85L_ENST00000368488.5_Missense_Mutation_p.Q738R	p.Q735R	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN			12	2825	-			735					A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Missense_Mutation	SNP	ENST00000368491.3	37	c.2204A>G	CCDS43498.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.953912	0.92660	.	.	ENSG00000111860	ENST00000368491;ENST00000368488	T;T	0.11930	2.73;2.73	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.20901	0.0503	M	0.72118	2.19	0.48087	D	0.999581	P	0.52316	0.952	P	0.53360	0.724	T	0.00472	-1.1719	10	0.49607	T	0.09	-12.0055	16.8222	0.85835	0.0:0.0:0.0:1.0	.	735	Q5SZL2	CF204_HUMAN	R	735;738	ENSP00000357477:Q735R;ENSP00000357474:Q738R	ENSP00000357474:Q738R	Q	-	2	0	C6orf204	118896978	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.938000	0.75904	2.371000	0.80710	0.533000	0.62120	CAG		0.383	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475		13	72	0	0	0	1	0	13	72				
KCNB2	9312	broad.mit.edu	37	8	73480145	73480145	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr8:73480145C>T	ENST00000523207.1	+	2	764	c.176C>T	c.(175-177)aCg>aTg	p.T59M		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	59					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	CTGCCCAGGACGCGCCTGGGG	0.537																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(175-177)aCg>aTg		potassium voltage-gated channel, Shab-related subfamily, member 2							66.0	68.0	67.0					8																	73480145		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73480145C>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.176C>T	8.37:g.73480145C>T	ENSP00000430846:p.Thr59Met						p.T59M	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	764	+	Breast(64;0.137)		59					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.176C>T	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.004318	0.93287	.	.	ENSG00000182674	ENST00000523207	D	0.82081	-1.57	5.71	5.71	0.89125	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	.	.	.	.	D	0.93877	0.8041	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94789	0.7960	9	0.87932	D	0	.	19.8677	0.96824	0.0:1.0:0.0:0.0	.	59	Q92953	KCNB2_HUMAN	M	59	ENSP00000430846:T59M	ENSP00000430846:T59M	T	+	2	0	KCNB2	73642699	1.000000	0.71417	0.950000	0.38849	0.986000	0.74619	7.818000	0.86416	2.709000	0.92574	0.655000	0.94253	ACG		0.537	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		27	74	0	0	0	1	0	27	74				
NGLY1	55768	broad.mit.edu	37	3	25820147	25820147	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr3:25820147C>T	ENST00000280700.5	-	2	324	c.164G>A	c.(163-165)cGg>cAg	p.R55Q	NGLY1_ENST00000417874.2_Missense_Mutation_p.R13Q|NGLY1_ENST00000396649.3_Missense_Mutation_p.R55Q|NGLY1_ENST00000422724.2_5'UTR|NGLY1_ENST00000428257.1_Missense_Mutation_p.R55Q	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	55	PUB.				glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						GTTTCCAATCCGGATGGATCT	0.338																																						ENST00000428257.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						c.(163-165)cGg>cAg		N-glycanase 1							108.0	112.0	110.0					3																	25820147		2203	4300	6503	SO:0001583	missense	55768				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	g.chr3:25820147C>T	AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.164G>A	3.37:g.25820147C>T	ENSP00000280700:p.Arg55Gln					NGLY1_ENST00000280700.5_Missense_Mutation_p.R55Q|NGLY1_ENST00000417874.2_Missense_Mutation_p.R13Q|NGLY1_ENST00000396649.3_Missense_Mutation_p.R55Q|NGLY1_ENST00000422724.2_5'UTR	p.R55Q	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN			2	271	-			55			PUB.		B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Missense_Mutation	SNP	ENST00000280700.5	37	c.164G>A	CCDS33719.1	.	.	.	.	.	.	.	.	.	.	C	35	5.582607	0.96578	.	.	ENSG00000151092	ENST00000428257;ENST00000280700;ENST00000396649;ENST00000308710;ENST00000417874	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;1.07	5.43	5.43	0.79202	PUG domain (1);PUB domain (1);	0.000000	0.85682	D	0.000000	T	0.72771	0.3502	M	0.90977	3.165	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.988;1.0	D;D;B;D	0.79108	0.992;0.912;0.426;0.954	T	0.78922	-0.2013	10	0.72032	D	0.01	-16.0251	18.3731	0.90413	0.0:1.0:0.0:0.0	.	13;55;55;55	B4DJE9;Q96IV0-2;Q96IV0-3;Q96IV0	.;.;.;NGLY1_HUMAN	Q	55;55;55;52;13	ENSP00000387430:R55Q;ENSP00000280700:R55Q;ENSP00000379886:R55Q;ENSP00000307980:R52Q;ENSP00000389888:R13Q	ENSP00000280700:R55Q	R	-	2	0	NGLY1	25795151	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.296000	0.65698	2.703000	0.92315	0.650000	0.86243	CGG		0.338	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2			31	72	0	0	0	1	0	31	72				
CFAP36	112942	broad.mit.edu	37	2	55746969	55746969	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr2:55746969G>T	ENST00000349456.4	+	1	180	c.32G>T	c.(31-33)tGg>tTg	p.W11L	CCDC104_ENST00000339012.3_Missense_Mutation_p.W11L|CCDC104_ENST00000406691.3_Missense_Mutation_p.W11L|CCDC104_ENST00000407816.3_Missense_Mutation_p.W11L|CCDC104_ENST00000403007.3_Missense_Mutation_p.W11L			Q96G28	CFA36_HUMAN		11										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GAGGTGGAGTGGGTAGTGGAG	0.612																																						ENST00000349456.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14						c.(31-33)tGg>tTg		coiled-coil domain containing 104							92.0	99.0	97.0					2																	55746969		2203	4300	6503	SO:0001583	missense	112942							g.chr2:55746969G>T																												ENST00000349456.4:c.32G>T	2.37:g.55746969G>T	ENSP00000295117:p.Trp11Leu					CCDC104_ENST00000407816.3_Missense_Mutation_p.W11L|CCDC104_ENST00000403007.3_Missense_Mutation_p.W11L|CCDC104_ENST00000339012.3_Missense_Mutation_p.W11L|CCDC104_ENST00000406691.3_Missense_Mutation_p.W11L	p.W11L			Q96G28	CC104_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		1	180	+			11					Q53SF0|Q53ST9|Q6UY34	Missense_Mutation	SNP	ENST00000349456.4	37	c.32G>T	CCDS1854.2	.	.	.	.	.	.	.	.	.	.	G	32	5.136129	0.94517	.	.	ENSG00000163001	ENST00000339012;ENST00000406691;ENST00000349456;ENST00000407816;ENST00000403007	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	5.76	5.76	0.90799	ADP-ribosylation factor-like 2-binding protein, domain (2);	0.052086	0.85682	D	0.000000	T	0.73489	0.3593	M	0.83384	2.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.75803	-0.3189	10	0.66056	D	0.02	.	19.97	0.97282	0.0:0.0:1.0:0.0	.	11;11	Q96G28;Q96G28-2	CC104_HUMAN;.	L	11	ENSP00000342699:W11L;ENSP00000385400:W11L;ENSP00000295117:W11L;ENSP00000385376:W11L;ENSP00000385972:W11L	ENSP00000342699:W11L	W	+	2	0	CCDC104	55600473	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.796000	0.69080	2.734000	0.93682	0.609000	0.83330	TGG		0.612	CCDC104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319610.2			43	94	1	0	1.19403e-26	1	1.37093e-26	43	94				
RAB37	326624	broad.mit.edu	37	17	72736974	72736974	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr17:72736974T>C	ENST00000392613.5	+	2	217	c.161T>C	c.(160-162)tTc>tCc	p.F54S	RAB37_ENST00000392612.3_Intron|RAB37_ENST00000392614.4_Missense_Mutation_p.F59S|RAB37_ENST00000340415.3_Intron|RAB37_ENST00000392615.5_Intron|RAB37_ENST00000402449.4_Intron|RAB37_ENST00000528438.1_Missense_Mutation_p.F27S|RAB37_ENST00000392610.1_Missense_Mutation_p.F54S	NM_001006638.2	NP_001006639.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	54					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|secretory granule (GO:0030141)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						GACGGGGCCTTCCTGTCCGGA	0.577																																						ENST00000392610.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						c.(160-162)tTc>tCc		RAB37, member RAS oncogene family							132.0	130.0	130.0					17																	72736974		2203	4300	6503	SO:0001583	missense	326624				protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding	g.chr17:72736974T>C	BC040547	CCDS11703.1, CCDS32722.1, CCDS54161.1, CCDS54162.1	17q25.2	2008-02-05			ENSG00000172794	ENSG00000172794		"""RAB, member RAS oncogene"""	30268	protein-coding gene	gene with protein product		609956				10722846	Standard	NM_175738		Approved		uc002jlk.3	Q96AX2	OTTHUMG00000134282	ENST00000392613.5:c.161T>C	17.37:g.72736974T>C	ENSP00000376389:p.Phe54Ser					RAB37_ENST00000402449.4_Intron|RAB37_ENST00000392613.5_Missense_Mutation_p.F54S|RAB37_ENST00000392615.5_Intron|RAB37_ENST00000528438.1_Missense_Mutation_p.F27S|RAB37_ENST00000392614.4_Missense_Mutation_p.F59S|RAB37_ENST00000392612.3_Intron|RAB37_ENST00000340415.3_Intron	p.F54S			Q96AX2	RAB37_HUMAN			2	202	+			54					A8MXF5|A8MYT0|Q8IWA7	Missense_Mutation	SNP	ENST00000392613.5	37	c.161T>C	CCDS32722.1	.	.	.	.	.	.	.	.	.	.	T	15.21	2.764776	0.49574	.	.	ENSG00000172794	ENST00000528438;ENST00000392614;ENST00000392613;ENST00000533530;ENST00000392610	D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22	5.1	4.01	0.46588	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.94335	0.8179	M	0.93328	3.405	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.81914	0.984;0.995	D	0.94061	0.7326	10	0.87932	D	0	.	10.3486	0.43920	0.1474:0.0:0.0:0.8526	.	59;54	A8MYT0;Q96AX2	.;RAB37_HUMAN	S	27;59;54;54;54	ENSP00000432086:F27S;ENSP00000376390:F59S;ENSP00000376389:F54S;ENSP00000376387:F54S	ENSP00000376387:F54S	F	+	2	0	RAB37	70248569	1.000000	0.71417	1.000000	0.80357	0.084000	0.17831	7.520000	0.81821	0.772000	0.33382	-0.496000	0.04628	TTC		0.577	RAB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258872.2	NM_175738		23	184	0	0	0	1	0	23	184				
NET1	10276	broad.mit.edu	37	10	5493806	5493806	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr10:5493806A>C	ENST00000355029.4	+	4	411	c.269A>C	c.(268-270)aAa>aCa	p.K90T	NET1_ENST00000380359.3_Missense_Mutation_p.K36T|NET1_ENST00000542715.1_5'UTR	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	90					apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|myoblast migration (GO:0051451)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						CCAAGCAATAAAAGAGTTCGA	0.388																																						ENST00000355029.4																			0				breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						c.(268-270)aAa>aCa		neuroepithelial cell transforming 1							157.0	164.0	162.0					10																	5493806		2203	4300	6503	SO:0001583	missense	10276				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity	g.chr10:5493806A>C	AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.269A>C	10.37:g.5493806A>C	ENSP00000347134:p.Lys90Thr					NET1_ENST00000380359.3_Missense_Mutation_p.K36T|NET1_ENST00000542715.1_5'UTR	p.K90T	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN			4	411	+			90					Q12773|Q96D82|Q99903|Q9UEN6	Missense_Mutation	SNP	ENST00000355029.4	37	c.269A>C	CCDS41483.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.427199	0.83667	.	.	ENSG00000173848	ENST00000355029;ENST00000380359	T;T	0.20069	2.46;2.1	5.83	5.83	0.93111	.	0.000000	0.44688	D	0.000432	T	0.49779	0.1577	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.54583	-0.8272	10	0.87932	D	0	-25.2661	15.0387	0.71770	1.0:0.0:0.0:0.0	.	36;90	Q5SQI7;Q7Z628	.;ARHG8_HUMAN	T	90;36	ENSP00000347134:K90T;ENSP00000369717:K36T	ENSP00000347134:K90T	K	+	2	0	NET1	5483806	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.905000	0.92613	2.231000	0.72958	0.460000	0.39030	AAA		0.388	NET1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046553.3	NM_005863		5	125	0	0	0	1	0	5	125				
KIAA1549L	25758	broad.mit.edu	37	11	33564307	33564307	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr11:33564307G>A	ENST00000321505.4	+	1	487	c.307G>A	c.(307-309)Ggg>Agg	p.G103R	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.G103R|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.G103R			Q6ZVL6	K154L_HUMAN	KIAA1549-like	103						integral component of membrane (GO:0016021)											AGTGCACAATGGGGTGTCTTT	0.522											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000321505.4																			0											c.(307-309)Ggg>Agg		KIAA1549-like							38.0	39.0	39.0					11																	33564307		1877	4115	5992	SO:0001583	missense	25758							g.chr11:33564307G>A	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.307G>A	11.37:g.33564307G>A	ENSP00000315295:p.Gly103Arg		OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	841	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.G103R|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.G103R	p.G103R							1	487	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.307G>A	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	G	10.27	1.303630	0.23736	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654	.	.	.	5.19	0.0615	0.14341	.	.	.	.	.	T	0.25158	0.0611	N	0.24115	0.695	0.09310	N	1	B;B	0.20261	0.005;0.043	B;B	0.21546	0.007;0.035	T	0.25537	-1.0129	8	0.23302	T	0.38	.	6.8509	0.24014	0.3276:0.1271:0.5452:0.0	.	103;103	E9PAT2;Q6ZVL6-2	.;.	R	103	.	ENSP00000265654:G103R	G	+	1	0	C11orf41	33520883	0.000000	0.05858	0.016000	0.15963	0.033000	0.12548	0.149000	0.16243	0.116000	0.18110	0.561000	0.74099	GGG		0.522	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		8	23	0	0	0	1	0	8	23				
HGD	3081	broad.mit.edu	37	3	120365112	120365112	+	Splice_Site	SNP	A	A	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr3:120365112A>G	ENST00000283871.5	-	9	1109		c.e9+1			NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase						cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		ATGAAGATTTACCAATTGGTC	0.453																																						ENST00000283871.5																			0				cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25						c.e9+1		homogentisate 1,2-dioxygenase							91.0	86.0	88.0					3																	120365112		2203	4300	6503	SO:0001630	splice_region_variant	3081				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding	g.chr3:120365112A>G		CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"""homogentisate oxidase"""	607474	"""homogentisate 1,2-dioxygenase (homogentisate oxidase)"""	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.649+1T>C	3.37:g.120365112A>G								NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN		GBM - Glioblastoma multiforme(114;0.158)	9	1109	-								A8K417|B2R8Z0	Splice_Site	SNP	ENST00000283871.5	37		CCDS3000.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.033866	0.75504	.	.	ENSG00000113924	ENST00000283871;ENST00000475447;ENST00000494453	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9693	0.64230	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HGD	121847802	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.353000	0.90077	2.181000	0.69327	0.533000	0.62120	.		0.453	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355410.1		Intron	23	48	0	0	0	1	0	23	48				
ULK3	25989	broad.mit.edu	37	15	75134439	75134439	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr15:75134439G>A	ENST00000440863.2	-	3	432	c.341C>T	c.(340-342)gCg>gTg	p.A114V	ULK3_ENST00000568667.1_Missense_Mutation_p.A125V|ULK3_ENST00000569437.1_Missense_Mutation_p.A114V	NM_001099436.1	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3	114	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|cellular senescence (GO:0090398)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)	2						GAAGACACGCGCCACCTTCTC	0.572																																						ENST00000440863.2																			0				breast(2)	2						c.(340-342)gCg>gTg		unc-51 like kinase 3							117.0	125.0	122.0					15																	75134439		2114	4233	6347	SO:0001583	missense	25989					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr15:75134439G>A	BC048289		15q24.1	2013-07-02	2013-07-02			ENSG00000140474			19703	protein-coding gene	gene with protein product		613472	"""unc-51-like kinase 3 (C. elegans)"""				Standard	XM_005254289		Approved	DKFZP434C131, FLJ90566	uc010bkf.1	Q6PHR2		ENST00000440863.2:c.341C>T	15.37:g.75134439G>A	ENSP00000400312:p.Ala114Val					ULK3_ENST00000568667.1_Missense_Mutation_p.A125V|ULK3_ENST00000569437.1_Missense_Mutation_p.A114V	p.A114V	NM_001099436.1	NP_001092906.1	Q6PHR2	ULK3_HUMAN			3	432	-			114			Protein kinase.		B2RXK3|B4DRQ7|D3DW68|Q9NPN5|Q9UFS4	Missense_Mutation	SNP	ENST00000440863.2	37	c.341C>T	CCDS45305.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289945	0.40494	.	.	ENSG00000140474	ENST00000440863;ENST00000418051	T	0.65732	-0.17	5.53	5.53	0.82687	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.112642	0.64402	D	0.000014	T	0.38134	0.1029	N	0.04959	-0.14	0.47819	D	0.99952	B;B;B;B;B	0.29232	0.104;0.238;0.045;0.022;0.048	B;B;B;B;B	0.27380	0.064;0.069;0.061;0.079;0.011	T	0.34004	-0.9846	10	0.20046	T	0.44	-5.4892	11.5269	0.50584	0.0819:0.0:0.9181:0.0	.	24;125;24;114;114	B4DEJ1;B4DFT0;B4DFS6;Q6PHR2;Q6PHR2-3	.;.;.;ULK3_HUMAN;.	V	114;125	ENSP00000400312:A114V	ENSP00000393658:A125V	A	-	2	0	ULK3	72921492	1.000000	0.71417	0.989000	0.46669	0.910000	0.53928	6.287000	0.72671	2.605000	0.88082	0.655000	0.94253	GCG		0.572	ULK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421734.4	NM_015518		61	174	0	0	0	1	0	61	174				
PLEC	5339	broad.mit.edu	37	8	144998994	144998994	+	Silent	SNP	C	C	T	rs542255749		TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr8:144998994C>T	ENST00000322810.4	-	31	5683	c.5514G>A	c.(5512-5514)gcG>gcA	p.A1838A	PLEC_ENST00000354958.2_Silent_p.A1679A|PLEC_ENST00000527096.1_Silent_p.A1724A|PLEC_ENST00000436759.2_Silent_p.A1728A|PLEC_ENST00000398774.2_Silent_p.A1669A|PLEC_ENST00000345136.3_Silent_p.A1701A|PLEC_ENST00000357649.2_Silent_p.A1705A|PLEC_ENST00000356346.3_Silent_p.A1687A|PLEC_ENST00000354589.3_Silent_p.A1701A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1838	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGGTGCCTTCCGCCAGCTGCC	0.746													C|||	1	0.000199681	0.0	0.0	5008	,	,		9841	0.001		0.0	False		,,,				2504	0.0					ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(5512-5514)gcG>gcA		plectin							2.0	3.0	3.0					8																	144998994		1646	3458	5104	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144998994C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.5514G>A	8.37:g.144998994C>T						PLEC_ENST00000354589.3_Silent_p.A1701A|PLEC_ENST00000354958.2_Silent_p.A1679A|PLEC_ENST00000356346.3_Silent_p.A1687A|PLEC_ENST00000527096.1_Silent_p.A1724A|PLEC_ENST00000345136.3_Silent_p.A1701A|PLEC_ENST00000436759.2_Silent_p.A1728A|PLEC_ENST00000398774.2_Silent_p.A1669A|PLEC_ENST00000357649.2_Silent_p.A1705A	p.A1838A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			31	5683	-			1838			Central fibrous rod domain.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.5514G>A	CCDS43772.1																																																																																				0.746	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		3	8	0	0	0	1	0	3	8				
LMOD3	56203	broad.mit.edu	37	3	69168012	69168012	+	Silent	SNP	C	C	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr3:69168012C>A	ENST00000420581.2	-	2	1673	c.1494G>T	c.(1492-1494)cgG>cgT	p.R498R	LMOD3_ENST00000475434.1_Silent_p.R498R|LMOD3_ENST00000489031.1_Silent_p.R498R	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	498						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		CTTCCGGCATCCGAGATTTGC	0.537																																						ENST00000420581.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13						c.(1492-1494)cgG>cgT		leiomodin 3 (fetal)							88.0	90.0	90.0					3																	69168012		2009	4182	6191	SO:0001819	synonymous_variant	56203					cytoplasm|cytoskeleton	tropomyosin binding	g.chr3:69168012C>A	AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.1494G>T	3.37:g.69168012C>A						LMOD3_ENST00000489031.1_Silent_p.R498R|LMOD3_ENST00000475434.1_Silent_p.R498R	p.R498R	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)	2	1673	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	498					B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Silent	SNP	ENST00000420581.2	37	c.1494G>T	CCDS46862.1																																																																																				0.537	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352138.1	XM_067529		4	30	1	0	0.00909568	1	0.00972297	4	30				
UHRF1BP1	54887	broad.mit.edu	37	6	34839640	34839640	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr6:34839640A>C	ENST00000192788.5	+	20	4306	c.4135A>C	c.(4135-4137)Aag>Cag	p.K1379Q	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.K1379Q	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1379							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TAAAAGTGAGAAGAGACAGCC	0.468																																						ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(4135-4137)Aag>Cag		UHRF1 binding protein 1							51.0	49.0	50.0					6																	34839640		1863	4098	5961	SO:0001583	missense	54887							g.chr6:34839640A>C	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.4135A>C	6.37:g.34839640A>C	ENSP00000192788:p.Lys1379Gln					UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.K1379Q	p.K1379Q	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			20	4306	+			1379					Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	c.4135A>C	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	A	7.832	0.720001	0.15372	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.09163	3.07;3.01	6.08	3.58	0.41010	.	0.445995	0.26556	N	0.023705	T	0.01940	0.0061	L	0.43152	1.355	0.22378	N	0.999155	P	0.51933	0.949	B	0.38264	0.269	T	0.28713	-1.0035	10	0.10636	T	0.68	-20.1217	3.3877	0.07277	0.6543:0.0:0.1776:0.1681	.	1379	Q6BDS2	URFB1_HUMAN	Q	1379	ENSP00000192788:K1379Q;ENSP00000400628:K1379Q	ENSP00000192788:K1379Q	K	+	1	0	UHRF1BP1	34947618	1.000000	0.71417	1.000000	0.80357	0.300000	0.27592	1.839000	0.39220	1.129000	0.42072	0.533000	0.62120	AAG		0.468	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		5	40	0	0	0	1	0	5	40				
ARHGAP24	83478	broad.mit.edu	37	4	86916229	86916229	+	Silent	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr4:86916229G>A	ENST00000395184.1	+	9	1888	c.1422G>A	c.(1420-1422)acG>acA	p.T474T	ARHGAP24_ENST00000264343.4_Silent_p.T381T|ARHGAP24_ENST00000395183.2_Silent_p.T379T	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	474					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)	p.T474T(1)|p.T381T(1)		breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AAATGGGCACGCACAGTGTAC	0.517																																						ENST00000395184.1																			2	Substitution - coding silent(2)	p.T474T(1)|p.T381T(1)	cervix(2)	breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(1420-1422)acG>acA		Rho GTPase activating protein 24							84.0	84.0	84.0					4																	86916229		2203	4300	6503	SO:0001819	synonymous_variant	83478				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	g.chr4:86916229G>A	AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.1422G>A	4.37:g.86916229G>A						ARHGAP24_ENST00000264343.4_Silent_p.T381T|ARHGAP24_ENST00000395183.2_Silent_p.T379T	p.T474T	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000571)	9	1888	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	474					Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Silent	SNP	ENST00000395184.1	37	c.1422G>A	CCDS34025.1																																																																																				0.517	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	NM_031305		4	105	0	0	0	1	0	4	105				
PCYOX1L	78991	broad.mit.edu	37	5	148747813	148747813	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr5:148747813A>G	ENST00000274569.4	+	6	1143	c.1081A>G	c.(1081-1083)Acc>Gcc	p.T361A	PCYOX1L_ENST00000514349.1_Missense_Mutation_p.T271A	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	361					prenylcysteine catabolic process (GO:0030328)	extracellular region (GO:0005576)|membrane (GO:0016020)	prenylcysteine oxidase activity (GO:0001735)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACATCCTTACCACAGATTT	0.557											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Ovarian(62;1136 1477 27277 27495)	ENST00000514349.1																			0				breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(811-813)Acc>Gcc		prenylcysteine oxidase 1 like							181.0	178.0	179.0					5																	148747813		2203	4300	6503	SO:0001583	missense	78991				prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor	g.chr5:148747813A>G		CCDS4296.1	5q33.1	2008-02-05			ENSG00000145882	ENSG00000145882			28477	protein-coding gene	gene with protein product						12477932	Standard	NM_024028		Approved	MGC3265	uc003lqk.2	Q8NBM8	OTTHUMG00000130052	ENST00000274569.4:c.1081A>G	5.37:g.148747813A>G	ENSP00000274569:p.Thr361Ala		OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1719	PCYOX1L_ENST00000274569.4_Missense_Mutation_p.T361A	p.T271A			Q8NBM8	PCYXL_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	1390	+			361					Q7Z4S2|Q8NCY5|Q8NF69|Q9BTE8|Q9BWS3	Missense_Mutation	SNP	ENST00000274569.4	37	c.811A>G	CCDS4296.1	.	.	.	.	.	.	.	.	.	.	A	13.36	2.213418	0.39102	.	.	ENSG00000145882	ENST00000274569;ENST00000514349	T;T	0.15834	2.39;2.39	5.63	3.11	0.35812	Prenylcysteine lyase (1);	0.103921	0.64402	D	0.000004	T	0.16642	0.0400	L	0.45228	1.405	0.53005	D	0.999968	B;P;P	0.44627	0.006;0.839;0.662	B;P;B	0.45660	0.015;0.489;0.376	T	0.00984	-1.1491	10	0.72032	D	0.01	-48.0405	6.3646	0.21447	0.695:0.0:0.0749:0.2301	.	243;271;361	B3KXF9;E7EVZ5;Q8NBM8	.;.;PCYXL_HUMAN	A	361;271	ENSP00000274569:T361A;ENSP00000428512:T271A	ENSP00000274569:T361A	T	+	1	0	PCYOX1L	148728006	1.000000	0.71417	0.952000	0.39060	0.814000	0.46013	5.059000	0.64306	2.131000	0.65755	0.459000	0.35465	ACC		0.557	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252331.2	NM_024028		4	207	0	0	0	1	0	4	207				
CASC1	55259	broad.mit.edu	37	12	25259959	25259959	+	IGR	SNP	C	C	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr12:25259959C>A	ENST00000320267.9	-	0	2361				LRMP_ENST00000548766.1_Missense_Mutation_p.P411T|LRMP_ENST00000354454.3_Missense_Mutation_p.P411T|LRMP_ENST00000547044.1_Missense_Mutation_p.P411T	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1											breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			GAAAAATAATCCATCAAAGTG	0.373																																						ENST00000354454.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19						c.(1231-1233)Cca>Aca		lymphoid-restricted membrane protein							82.0	75.0	77.0					12																	25259959		2203	4299	6502	SO:0001628	intergenic_variant	4033				vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane		g.chr12:25259959C>A	AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 54"""					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195		12.37:g.25259959C>A						LRMP_ENST00000548766.1_Missense_Mutation_p.P411T|LRMP_ENST00000547044.1_Missense_Mutation_p.P411T	p.P411T	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN			20	2060	+	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)		467					B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	ENST00000320267.9	37	c.1231C>A	CCDS41762.1	.	.	.	.	.	.	.	.	.	.	C	3.773	-0.047310	0.07407	.	.	ENSG00000118308	ENST00000354454;ENST00000536173;ENST00000548766;ENST00000547044	T;T;T;T	0.10477	2.87;2.87;2.87;2.87	5.56	2.68	0.31781	.	1.153860	0.06326	N	0.705380	T	0.08758	0.0217	L	0.35723	1.085	0.09310	N	1	P	0.39352	0.669	B	0.38106	0.265	T	0.31475	-0.9942	10	0.11182	T	0.66	-1.9062	5.162	0.15066	0.15:0.6266:0.1445:0.0789	.	467	Q12912	LRMP_HUMAN	T	411;358;411;411	ENSP00000346442:P411T;ENSP00000444056:P358T;ENSP00000446496:P411T;ENSP00000450246:P411T	ENSP00000346442:P411T	P	+	1	0	LRMP	25151226	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.362000	0.20284	0.266000	0.21894	0.585000	0.79938	CCA		0.373	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272		13	22	1	0	2.31682e-05	1	2.56505e-05	13	22				
RPTN	126638	broad.mit.edu	37	1	152128689	152128689	+	Missense_Mutation	SNP	C	C	T	rs201025925		TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr1:152128689C>T	ENST00000316073.3	-	3	950	c.886G>A	c.(886-888)Ggt>Agt	p.G296S		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	296	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TCCGTCTGACCGTAGTGGGAA	0.498													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22400	0.0		0.0	False		,,,				2504	0.0					ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(886-888)Ggt>Agt		repetin							597.0	514.0	540.0					1																	152128689		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128689C>T	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.886G>A	1.37:g.152128689C>T	ENSP00000317895:p.Gly296Ser						p.G296S	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	950	-			296			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.886G>A	CCDS41397.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	16.30	3.083172	0.55861	.	.	ENSG00000215853	ENST00000316073	T	0.12984	2.63	4.73	-0.515	0.11954	.	.	.	.	.	T	0.07098	0.0180	L	0.33792	1.035	0.09310	N	1	D	0.65815	0.995	P	0.54140	0.743	T	0.25398	-1.0133	9	0.49607	T	0.09	-8.2231	8.1514	0.31143	0.0:0.4582:0.0:0.5418	.	296	Q6XPR3	RPTN_HUMAN	S	296	ENSP00000317895:G296S	ENSP00000317895:G296S	G	-	1	0	RPTN	150395313	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.770000	0.04705	0.098000	0.17522	-0.409000	0.06214	GGT		0.498	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		9	616	0	0	0	1	0	9	616				
SOBP	55084	broad.mit.edu	37	6	107954878	107954878	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr6:107954878G>A	ENST00000317357.5	+	6	1489	c.830G>A	c.(829-831)aGc>aAc	p.S277N		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GGGCTGTGCAGCACATTACAC	0.488																																						ENST00000317357.5																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(829-831)aGc>aAc		sine oculis binding protein homolog (Drosophila)							66.0	71.0	69.0					6																	107954878		1938	4114	6052	SO:0001583	missense	55084						metal ion binding	g.chr6:107954878G>A	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.830G>A	6.37:g.107954878G>A	ENSP00000318900:p.Ser277Asn						p.S277N	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	6	1489	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	277						Missense_Mutation	SNP	ENST00000317357.5	37	c.830G>A	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	G	6.979	0.550654	0.13374	.	.	ENSG00000112320	ENST00000317357	T	0.29655	1.56	5.52	5.52	0.82312	.	0.237737	0.42420	D	0.000719	T	0.04137	0.0115	N	0.01048	-1.04	0.34224	D	0.675749	B	0.02656	0.0	B	0.06405	0.002	T	0.31081	-0.9956	10	0.16896	T	0.51	-1.9086	13.0677	0.59043	0.0738:0.0:0.9262:0.0	.	277	A7XYQ1	SOBP_HUMAN	N	277	ENSP00000318900:S277N	ENSP00000318900:S277N	S	+	2	0	SOBP	108061571	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.573000	0.67417	2.755000	0.94549	0.591000	0.81541	AGC		0.488	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		3	85	0	0	0	1	0	3	85				
ZNF878	729747	broad.mit.edu	37	19	12155153	12155153	+	Silent	SNP	G	G	T	rs189074815		TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr19:12155153G>T	ENST00000547628.1	-	4	1200	c.1063C>A	c.(1063-1065)Cga>Aga	p.R355R	CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000602107.1_Silent_p.R402R|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	355					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TCATGTATTCGAAGATCCTTG	0.383																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(1204-1206)Cga>Aga		zinc finger protein 878							46.0	52.0	50.0					19																	12155153		2192	4293	6485	SO:0001819	synonymous_variant	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155153G>T		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.1063C>A	19.37:g.12155153G>T						CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000547628.1_Silent_p.R355R	p.R402R			C9JN71	ZN878_HUMAN			5	1203	-			355						Silent	SNP	ENST00000547628.1	37	c.1204C>A	CCDS45984.2																																																																																				0.383	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		3	51	1	0	1	1	1	3	51				
PCF11	51585	broad.mit.edu	37	11	82892950	82892950	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr11:82892950T>G	ENST00000298281.4	+	13	4674	c.4222T>G	c.(4222-4224)Ttt>Gtt	p.F1408V	RP11-727A23.4_ENST00000528133.1_RNA	NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	1408					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						AAAGAGCCAGTTTTTTGAAAA	0.388																																						ENST00000298281.4																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						c.(4222-4224)Ttt>Gtt		PCF11 cleavage and polyadenylation factor subunit							70.0	74.0	73.0					11																	82892950		1833	4089	5922	SO:0001583	missense	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82892950T>G	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.4222T>G	11.37:g.82892950T>G	ENSP00000298281:p.Phe1408Val					RP11-727A23.4_ENST00000528133.1_RNA	p.F1408V	NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN			13	4674	+			1408					A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	c.4222T>G	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.455627	0.84209	.	.	ENSG00000165494	ENST00000298281;ENST00000530906	T;T	0.61040	1.7;0.14	5.49	5.49	0.81192	.	0.000000	0.52532	D	0.000061	T	0.74129	0.3676	M	0.70595	2.14	0.58432	D	0.999999	D	0.63880	0.993	D	0.70227	0.968	T	0.75085	-0.3442	9	.	.	.	-11.075	15.5857	0.76479	0.0:0.0:0.0:1.0	.	1408	O94913	PCF11_HUMAN	V	1408;193	ENSP00000298281:F1408V;ENSP00000437076:F193V	.	F	+	1	0	PCF11	82570598	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.579000	0.82511	2.078000	0.62432	0.383000	0.25322	TTT		0.388	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		9	18	0	0	0	1	0	9	18				
FSHR	2492	broad.mit.edu	37	2	49190030	49190030	+	Missense_Mutation	SNP	A	A	G	rs201115329		TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr2:49190030A>G	ENST00000406846.2	-	10	2049	c.1930T>C	c.(1930-1932)Tgt>Cgt	p.C644R	FSHR_ENST00000304421.4_Missense_Mutation_p.C618R|FSHR_ENST00000541117.1_Missense_Mutation_p.C380R|FSHR_ENST00000346173.3_Missense_Mutation_p.C582R	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	644					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	TAGCAGCCACACTTGCTCAGC	0.478									Gonadal Dysgenesis, 46 XX																													ENST00000406846.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(1930-1932)Tgt>Cgt		follicle stimulating hormone receptor	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						85.0	85.0	85.0					2																	49190030		2203	4300	6503	SO:0001583	missense	0	Gonadal Dysgenesis, 46 XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49190030A>G		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1930T>C	2.37:g.49190030A>G	ENSP00000384708:p.Cys644Arg					FSHR_ENST00000304421.4_Missense_Mutation_p.C618R|FSHR_ENST00000541117.1_Missense_Mutation_p.C380R|FSHR_ENST00000346173.3_Missense_Mutation_p.C582R	p.C644R	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	2049	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	644					A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.1930T>C	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	A	11.09	1.535857	0.27475	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117	D;D;D;D	0.93906	-3.31;-3.31;-3.31;-3.31	5.35	5.35	0.76521	.	0.156979	0.64402	D	0.000017	D	0.87204	0.6119	N	0.24115	0.695	0.38331	D	0.943798	B;B;B	0.29508	0.246;0.134;0.246	B;B;B	0.25291	0.05;0.059;0.05	D	0.85678	0.1299	9	.	.	.	.	14.958	0.71131	1.0:0.0:0.0:0.0	.	618;582;644	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	R	644;582;618;380	ENSP00000384708:C644R;ENSP00000333908:C582R;ENSP00000306780:C618R;ENSP00000444172:C380R	.	C	-	1	0	FSHR	49043534	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.722000	0.68485	2.371000	0.80710	0.533000	0.62120	TGT		0.478	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			9	45	0	0	0	1	0	9	45				
COL4A4	1286	broad.mit.edu	37	2	227896870	227896870	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr2:227896870G>A	ENST00000396625.3	-	39	3907	c.3700C>T	c.(3700-3702)Ccc>Tcc	p.P1234S	COL4A4_ENST00000329662.7_Missense_Mutation_p.P1234S	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1234	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTACCTGGGGGTCCTGGGGGA	0.507																																						ENST00000396625.3																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(3700-3702)Ccc>Tcc		collagen, type IV, alpha 4							85.0	86.0	85.0					2																	227896870		1838	4091	5929	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227896870G>A		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.3700C>T	2.37:g.227896870G>A	ENSP00000379866:p.Pro1234Ser					COL4A4_ENST00000329662.7_Missense_Mutation_p.P1234S	p.P1234S	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	39	3907	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	1234			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.3700C>T	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	G	3.977	-0.007289	0.07773	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.96802	-4.13;-3.2	5.5	4.62	0.57501	.	.	.	.	.	D	0.92381	0.7582	N	0.21324	0.655	0.28626	N	0.907938	P	0.34892	0.474	B	0.40410	0.328	D	0.84558	0.0648	9	0.09338	T	0.73	.	12.3796	0.55299	0.0:0.1692:0.8308:0.0	.	1234	P53420	CO4A4_HUMAN	S	1234	ENSP00000379866:P1234S;ENSP00000328553:P1234S	ENSP00000328553:P1234S	P	-	1	0	COL4A4	227605114	0.872000	0.30054	0.717000	0.30585	0.024000	0.10985	1.486000	0.35530	1.323000	0.45263	0.650000	0.86243	CCC		0.507	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		4	104	0	0	0	1	0	4	104				
PTPRS	5802	broad.mit.edu	37	19	5220066	5220066	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr19:5220066G>A	ENST00000587303.1	-	21	3748	c.3649C>T	c.(3649-3651)Cca>Tca	p.P1217S	PTPRS_ENST00000588012.1_Missense_Mutation_p.P1195S|PTPRS_ENST00000592099.1_Missense_Mutation_p.P786S|PTPRS_ENST00000348075.2_Missense_Mutation_p.P1195S|PTPRS_ENST00000353284.2_Missense_Mutation_p.P786S|PTPRS_ENST00000357368.4_Missense_Mutation_p.P1217S|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.P1213S|PTPRS_ENST00000372412.4_Missense_Mutation_p.P1218S			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1217					cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	AACGTGGGTGGCAGCACAGAG	0.647																																						ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(3652-3654)Cca>Tca		protein tyrosine phosphatase, receptor type, S							49.0	57.0	54.0					19																	5220066		2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5220066G>A	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.3649C>T	19.37:g.5220066G>A	ENSP00000467537:p.Pro1217Ser					PTPRS_ENST00000587303.1_Missense_Mutation_p.P1217S|PTPRS_ENST00000348075.2_Missense_Mutation_p.P1195S|PTPRS_ENST00000592099.1_Missense_Mutation_p.P786S|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.P1213S|PTPRS_ENST00000357368.4_Missense_Mutation_p.P1217S|PTPRS_ENST00000353284.2_Missense_Mutation_p.P786S|PTPRS_ENST00000588012.1_Missense_Mutation_p.P1195S	p.P1218S			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	22	3885	-			1217					O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.3652C>T	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.864401	0.71949	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.60040	0.24;0.26;0.33;0.22;0.34	4.07	4.07	0.47477	.	0.000000	0.64402	U	0.000003	T	0.74839	0.3769	M	0.72353	2.195	0.80722	D	1	D;D;D;B;D;D	0.89917	1.0;1.0;1.0;0.367;1.0;1.0	D;D;D;B;D;D	0.97110	1.0;0.991;0.999;0.193;0.999;0.998	T	0.79470	-0.1790	10	0.87932	D	0	.	16.4556	0.84011	0.0:0.0:1.0:0.0	.	799;786;790;1195;1217;812	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	S	812;1218;1217;1217;1208;1213;1195;799;790;786	ENSP00000361489:P1218S;ENSP00000349932:P1217S;ENSP00000262963:P1213S;ENSP00000269907:P1195S;ENSP00000327313:P786S	ENSP00000262963:P1213S	P	-	1	0	PTPRS	5171066	1.000000	0.71417	0.998000	0.56505	0.352000	0.29268	9.455000	0.97625	2.119000	0.64992	0.655000	0.94253	CCA		0.647	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			4	94	0	0	0	1	0	4	94				
LRRIQ3	127255	broad.mit.edu	37	1	74575212	74575213	+	Frame_Shift_Ins	INS	-	-	T	rs375424853		TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr1:74575212_74575213insT	ENST00000395089.1	-	4	731_732	c.732_733insA	c.(730-735)aaacagfs	p.Q245fs	LRRIQ3_ENST00000354431.4_Frame_Shift_Ins_p.Q245fs|LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.Q137fs|LRRIQ3_ENST00000468759.1_5'UTR			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	245				QQEKII -> TAGKNY (in Ref. 1; BAD18621). {ECO:0000305}.						NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTTTCCTGCTGTTTTTTTTTGT	0.327																																						ENST00000354431.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.(730-735)aaagcafs		leucine-rich repeats and IQ motif containing 3																																				SO:0001589	frameshift_variant	127255							g.chr1:74575212_74575213insT	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.733dupA	1.37:g.74575221_74575221dupT	ENSP00000378524:p.Gln245fs					LRRIQ3_ENST00000395089.1_Frame_Shift_Ins_p.A245fs|LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.A137fs|LRRIQ3_ENST00000468759.1_5'UTR	p.A245fs	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN			5	923_924	-			245	QQEKII -> TAGKNY (in Ref. 1; BAD18621).				A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Frame_Shift_Ins	INS	ENST00000395089.1	37	c.732_733insA	CCDS41350.1																																																																																				0.327	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		8	92						8	92	---	---	---	---
GJA8	2703	broad.mit.edu	37	1	147380382	147380382	+	Silent	SNP	C	C	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr1:147380382C>T	ENST00000369235.1	+	1	300	c.300C>T	c.(298-300)gtC>gtT	p.V100V	GJA8_ENST00000240986.4_Silent_p.V100V			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	100					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					TGCACTACGTCCGCATGGAGG	0.657																																					Melanoma(76;1255 1795 8195 52096)	ENST00000240986.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37						c.(298-300)gtC>gtT		gap junction protein, alpha 8, 50kDa							86.0	75.0	79.0					1																	147380382		2203	4300	6503	SO:0001819	synonymous_variant	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147380382C>T	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.300C>T	1.37:g.147380382C>T						GJA8_ENST00000369235.1_Silent_p.V100V	p.V100V	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN			2	353	+	all_hematologic(923;0.0276)		100					A7L5M5|Q5VVN9|Q9NP25	Silent	SNP	ENST00000369235.1	37	c.300C>T	CCDS30834.1																																																																																				0.657	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		17	66	0	0	0	1	0	17	66				
PLA2R1	22925	broad.mit.edu	37	2	160918876	160918878	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr2:160918876_160918878delCAG	ENST00000283243.7	-	1	243_245	c.37_39delCTG	c.(37-39)ctgdel	p.L13del	PLA2R1_ENST00000392771.1_In_Frame_Del_p.L13del	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	13					cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GCGGCGCCCCcagcagcagcagc	0.729																																						ENST00000283243.7																		PLA2R1/RBMS1(2)	0				central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(37-39)del		phospholipase A2 receptor 1, 180kDa			,,	16,82,2566		4,0,8,17,48,1255					,,	-3.1	0.0			4	2,158,4972		0,1,1,22,113,2429	no	codingComplex,codingComplex,codingComplex	PLA2R1	NM_007366.4,NM_001195641.1,NM_001007267.2	,,	4,1,9,39,161,3684	A1A1,A1A2,A1R,A2A2,A2R,RR		3.1177,3.6787,3.3094	,,	,,		18,240,7538				SO:0001651	inframe_deletion	0				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160918876_160918878delCAG	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.37_39delCTG	2.37:g.160918885_160918887delCAG	ENSP00000283243:p.Leu13del					PLA2R1_ENST00000392771.1_In_Frame_Del_p.L13del	p.L13del	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN			1	243_245	-			13					B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	In_Frame_Del	DEL	ENST00000283243.7	37	c.37_39delCTG	CCDS33309.1																																																																																				0.729	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			2	4						2	4	---	---	---	---
MAGI1	9223	broad.mit.edu	37	3	65372850	65372851	+	Frame_Shift_Del	DEL	TC	TC	-	rs139764373		TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:65372850_65372851delTC	ENST00000330909.8	-	15	2466_2467	c.2467_2468delGA	c.(2467-2469)gaafs	p.E823fs	MAGI1_ENST00000402939.2_Intron|MAGI1_ENST00000497477.2_Intron|MAGI1_ENST00000483466.1_Frame_Shift_Del_p.E823fs	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	823	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GGAATTGATTTCTCTCTCTCTC	0.401																																						ENST00000330909.8																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(2467-2469)afs		membrane associated guanylate kinase, WW and PDZ domain containing 1																																				SO:0001589	frameshift_variant	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65372850_65372851delTC	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000330909.8:c.2467_2468delGA	3.37:g.65372860_65372861delTC	ENSP00000331157:p.Glu823fs					MAGI1_ENST00000483466.1_Frame_Shift_Del_p.E823fs|MAGI1_ENST00000497477.2_Intron|MAGI1_ENST00000402939.2_Intron	p.E823fs	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	15	2466_2467	-		Lung NSC(201;0.0016)	823			PDZ 4.		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Frame_Shift_Del	DEL	ENST00000330909.8	37	c.2467_2468delGA	CCDS33781.1																																																																																				0.401	MAGI1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000349127.2	NM_004742		7	127						7	127	---	---	---	---
ASTE1	28990	broad.mit.edu	37	3	130733047	130733047	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:130733047delT	ENST00000264992.3	-	6	2335	c.1894delA	c.(1894-1896)aggfs	p.R632fs	ATP2C1_ENST00000533801.2_Intron|ATP2C1_ENST00000393221.4_Intron|ASTE1_ENST00000514044.1_Frame_Shift_Del_p.R657fs|ATP2C1_ENST00000359644.3_Intron|ATP2C1_ENST00000422190.2_Intron|ATP2C1_ENST00000328560.8_Intron|ATP2C1_ENST00000507488.2_Intron|ATP2C1_ENST00000513801.1_Intron|ATP2C1_ENST00000504381.1_Intron	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	632					DNA repair (GO:0006281)		nuclease activity (GO:0004518)	p.R632fs*33(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						TTCTTCTGCCTTTTTTTTTTT	0.403																																						ENST00000264992.3																			2	Deletion - Frameshift(2)	p.R632fs*33(2)	ovary(2)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						c.(1894-1896)ggfs		asteroid homolog 1 (Drosophila)							57.0	55.0	56.0					3																	130733047		2203	4300	6503	SO:0001589	frameshift_variant	28990				DNA repair		nuclease activity	g.chr3:130733047delT	AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.1894delA	3.37:g.130733047delT	ENSP00000264992:p.Arg632fs					ATP2C1_ENST00000507488.2_Intron|ATP2C1_ENST00000328560.8_Intron|ATP2C1_ENST00000393221.4_Intron|ATP2C1_ENST00000359644.3_Intron|ASTE1_ENST00000514044.1_Frame_Shift_Del_p.R657fs|ATP2C1_ENST00000422190.2_Intron|ATP2C1_ENST00000504381.1_Intron|ATP2C1_ENST00000513801.1_Intron|ATP2C1_ENST00000533801.2_Intron	p.R632fs	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN			6	2335	-			632					B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Frame_Shift_Del	DEL	ENST00000264992.3	37	c.1894delA	CCDS3068.1																																																																																				0.403	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1	NM_014065		10	35						10	35	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	151148114	151148116	+	In_Frame_Del	DEL	CAG	CAG	-	rs147600909		TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:151148114_151148116delCAG	ENST00000474524.1	+	42	6369_6371	c.6331_6333delCAG	c.(6331-6333)cagdel	p.Q2115del	MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2115	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.Q2111E(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCAGACCCAGCAGCAGCAGC	0.527																																						ENST00000474524.1																			1	Substitution - Missense(1)	p.Q2111E(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(6331-6333)del		mediator complex subunit 12-like																																				SO:0001651	inframe_deletion	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151148114_151148116delCAG	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.6331_6333delCAG	3.37:g.151148123_151148125delCAG	ENSP00000417235:p.Gln2115del					MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del	p.Q2115del	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		42	6369_6371	+			2115			Gln-rich.		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	In_Frame_Del	DEL	ENST00000474524.1	37	c.6331_6333delCAG	CCDS33876.1																																																																																				0.527	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		7	116						7	116	---	---	---	---
YEATS2	55689	broad.mit.edu	37	3	183479310	183479310	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:183479310delT	ENST00000305135.5	+	14	1867	c.1672delT	c.(1672-1674)tttfs	p.F558fs		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	558					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GGATTCTTTGTTTGCATCTAT	0.388																																						ENST00000305135.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.(1672-1674)ttfs		YEATS domain containing 2							154.0	148.0	150.0					3																	183479310		1867	4083	5950	SO:0001589	frameshift_variant	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183479310delT	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.1672delT	3.37:g.183479310delT	ENSP00000306983:p.Phe558fs						p.F558fs	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		14	1867	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		558					A7E2B9|D3DNS9|Q641P6|Q9NW96	Frame_Shift_Del	DEL	ENST00000305135.5	37	c.1672delT	CCDS43175.1																																																																																				0.388	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		8	206						8	206	---	---	---	---
OTUD4	54726	broad.mit.edu	37	4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-	rs150581210		TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr4:146077123_146077125delCAG	ENST00000447906.2	-	8	840_842	c.653_655delCTG	c.(652-657)gctgat>gat	p.A218del	OTUD4_ENST00000454497.2_In_Frame_Del_p.A153del|OTUD4_ENST00000455611.2_5'UTR			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	218					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.34																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(457-462)gat>g		OTU domain containing 4																																				SO:0001651	inframe_deletion	54726						protein binding	g.chr4:146077123_146077125delCAG		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.653_655delCTG	4.37:g.146077132_146077134delCAG	ENSP00000395487:p.Ala218del					OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del|OTUD4_ENST00000455611.2_5'UTR	p.AD153del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			8	595_597	-	all_hematologic(180;0.151)		218			OTU.		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	In_Frame_Del	DEL	ENST00000447906.2	37	c.458_460delCTG																																																																																					0.340	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		9	106						9	106	---	---	---	---
MIR9-2	407047	broad.mit.edu	37	5	87980814	87980816	+	RNA	DEL	GAG	GAG	-			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr5:87980814_87980816delGAG	ENST00000510274.1	+	0	46																											ggaggaggaagaggaggaggagg	0.581																																						ENST00000510274.1																			0																																																			0							g.chr5:87980814_87980816delGAG																													5.37:g.87980823_87980825delGAG														0	46	+									RNA	DEL	ENST00000510274.1	37																																																																																						0.581	CTC-467M3.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000369794.1			4	7						4	7	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49416426	49416440	+	In_Frame_Del	DEL	TGCCAATGTACTCGA	TGCCAATGTACTCGA	-			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr12:49416426_49416440delTGCCAATGTACTCGA	ENST00000301067.7	-	51	16270_16284	c.16271_16285delTCGAGTACATTGGCA	c.(16270-16287)atcgagtacattggcacc>acc	p.IEYIG5424del		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5424	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G5428D(1)|p.E5425*(1)|p.G5158D(1)|p.E5155*(1)									CGAATGATGGTGCCAATGTACTCGATAACCATTGT	0.553																																						ENST00000301067.7																			4	Substitution - Missense(2)|Substitution - Nonsense(2)	p.G5428D(1)|p.E5425*(1)|p.G5158D(1)|p.E5155*(1)	lung(2)|endometrium(2)								c.(16270-16287)acc>a		lysine (K)-specific methyltransferase 2D																																				SO:0001651	inframe_deletion	8085							g.chr12:49416426_49416440delTGCCAATGTACTCGA	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.16271_16285delTCGAGTACATTGGCA	12.37:g.49416426_49416440delTGCCAATGTACTCGA	ENSP00000301067:p.Ile5424_Gly5428del						p.IEYIGT5424del	NM_003482.3	NP_003473.3					51	16270_16284	-								O14687	In_Frame_Del	DEL	ENST00000301067.7	37	c.16271_16285delTCGAGTACATTGGCA	CCDS44873.1																																																																																				0.553	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			41	343						41	343	---	---	---	---
FRG1B	284802	broad.mit.edu	37	20	29628226	29628226	+	Splice_Site	DEL	G	G	-	rs78710112	byFrequency	TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr20:29628226delG	ENST00000278882.3	+	6	608		c.e6-1		FRG1B_ENST00000358464.4_Splice_Site|FRG1B_ENST00000439954.2_Splice_Site			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTTTCACTTAGGGGAAAATGG	0.358																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.e6-1																																						SO:0001630	splice_region_variant	0							g.chr20:29628226delG			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.229-1G>-	20.37:g.29628226delG						FRG1B_ENST00000358464.4_Splice_Site|FRG1B_ENST00000439954.2_Splice_Site								6	608	+								C4AME5	Splice_Site	DEL	ENST00000278882.3	37																																																																																						0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	Intron	10	214						10	214	---	---	---	---
FRG1B	284802	broad.mit.edu	37	20	29628229	29628230	+	Frame_Shift_Ins	INS	-	-	A	rs373737774		TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr20:29628229_29628230insA	ENST00000278882.3	+	6	611_612	c.231_232insA	c.(232-234)aaafs	p.K78fs	FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.K78fs|FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.K83fs			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	78										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCACTTAGGGGAAAATGGCTTT	0.351																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(229-234)ggaaatfs																																						SO:0001589	frameshift_variant	0							g.chr20:29628229_29628230insA			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.235dupA	20.37:g.29628233_29628233dupA	ENSP00000278882:p.Lys78fs					FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.N78fs|FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.N83fs	p.N78fs							6	611_612	+								C4AME5	Frame_Shift_Ins	INS	ENST00000278882.3	37	c.231_232insA																																																																																					0.351	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		12	217						12	217	---	---	---	---
IRS4	8471	broad.mit.edu	37	X	107977190	107977191	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chrX:107977190_107977191delAT	ENST00000372129.2	-	1	2460_2461	c.2384_2385delAT	c.(2383-2385)aatfs	p.N795fs	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	795	CRK-binding.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CACCCTGAGGATTTCTGGGGTT	0.465																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(2383-2385)afs		insulin receptor substrate 4																																				SO:0001589	frameshift_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107977190_107977191delAT	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.2384_2385delAT	X.37:g.107977190_107977191delAT	ENSP00000361202:p.Asn795fs						p.N795fs	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	2460_2461	-			795			CRK-binding.			Frame_Shift_Del	DEL	ENST00000372129.2	37	c.2384_2385delAT	CCDS14544.1																																																																																				0.465	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		20	101						20	101	---	---	---	---
RP11-782C8.1	0	broad.mit.edu	37	1	143217265	143217266	+	lincRNA	INS	-	-	A	rs200536781		TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr1:143217265_143217266insA	ENST00000438000.1	+	0	59																											GTTAGTAAAGCAAAAAAAAAAC	0.282																																						ENST00000438000.1																			0																																																			0							g.chr1:143217265_143217266insA																													1.37:g.143217275_143217275dupA														0	59	+									RNA	INS	ENST00000438000.1	37																																																																																						0.282	RP11-782C8.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037560.1			3	4						3	4	---	---	---	---
YEATS2	55689	broad.mit.edu	37	3	183479310	183479310	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr3:183479310delT	ENST00000305135.5	+	14	1867	c.1672delT	c.(1672-1674)tttfs	p.F558fs		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	558					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GGATTCTTTGTTTGCATCTAT	0.388																																						ENST00000305135.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.(1672-1674)ttfs		YEATS domain containing 2							154.0	148.0	150.0					3																	183479310		1867	4083	5950	SO:0001589	frameshift_variant	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183479310delT	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.1672delT	3.37:g.183479310delT	ENSP00000306983:p.Phe558fs						p.F558fs	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		14	1867	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		558					A7E2B9|D3DNS9|Q641P6|Q9NW96	Frame_Shift_Del	DEL	ENST00000305135.5	37	c.1672delT	CCDS43175.1																																																																																				0.388	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		8	206						8	206	---	---	---	---
SKIDA1	387640	broad.mit.edu	37	10	21805698	21805700	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr10:21805698_21805700delGGT	ENST00000449193.2	-	4	3304_3306	c.1052_1054delACC	c.(1051-1056)caccgg>cgg	p.H351del	SKIDA1_ENST00000487107.1_5'Flank|SKIDA1_ENST00000444772.3_In_Frame_Del_p.H272del	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	270	Glu-rich.|Ser-rich.					nucleus (GO:0005634)											GGCTGGGCCCggtggtggtggtg	0.69																																						ENST00000449193.2																			0											c.(1051-1056)cgg>c		SKI/DACH domain containing 1																																				SO:0001651	inframe_deletion	387640							g.chr10:21805698_21805700delGGT	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1052_1054delACC	10.37:g.21805707_21805709delGGT	ENSP00000410041:p.His351del					SKIDA1_ENST00000444772.3_In_Frame_Del_p.HR272del	p.HR351del	NM_207371.3	NP_997254.3					4	3304_3306	-								B1ANA5|Q6ZMX4|Q8N3C3	In_Frame_Del	DEL	ENST00000449193.2	37	c.1052_1054delACC	CCDS44363.1																																																																																				0.690	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		3	5						3	5	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49416426	49416440	+	In_Frame_Del	DEL	TGCCAATGTACTCGA	TGCCAATGTACTCGA	-			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr12:49416426_49416440delTGCCAATGTACTCGA	ENST00000301067.7	-	51	16270_16284	c.16271_16285delTCGAGTACATTGGCA	c.(16270-16287)atcgagtacattggcacc>acc	p.IEYIG5424del		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5424	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G5428D(1)|p.E5425*(1)|p.G5158D(1)|p.E5155*(1)									CGAATGATGGTGCCAATGTACTCGATAACCATTGT	0.553																																						ENST00000301067.7																			4	Substitution - Missense(2)|Substitution - Nonsense(2)	p.G5428D(1)|p.E5425*(1)|p.G5158D(1)|p.E5155*(1)	lung(2)|endometrium(2)								c.(16270-16287)acc>a		lysine (K)-specific methyltransferase 2D																																				SO:0001651	inframe_deletion	8085							g.chr12:49416426_49416440delTGCCAATGTACTCGA	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.16271_16285delTCGAGTACATTGGCA	12.37:g.49416426_49416440delTGCCAATGTACTCGA	ENSP00000301067:p.Ile5424_Gly5428del						p.IEYIGT5424del	NM_003482.3	NP_003473.3					51	16270_16284	-								O14687	In_Frame_Del	DEL	ENST00000301067.7	37	c.16271_16285delTCGAGTACATTGGCA	CCDS44873.1																																																																																				0.553	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			41	343						41	343	---	---	---	---
ZIC2	7546	broad.mit.edu	37	13	100634394	100634396	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr13:100634394_100634396delGCG	ENST00000376335.3	+	1	369_371	c.76_78delGCG	c.(76-78)gcgdel	p.A33del		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	33	Poly-Ala.				brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCACTccgccgcggcggcggcgg	0.759																																					Pancreas(97;119 1522 31925 44771 48764)	ENST00000376335.3																			0				large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(76-78)del		Zic family member 2				23,557		6,11,273						-6.2	0.9			3	75,1865		12,51,907	no	coding	ZIC2	NM_007129.3		18,62,1180	A1A1,A1R,RR		3.866,3.9655,3.8889				98,2422				SO:0001651	inframe_deletion	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100634394_100634396delGCG	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.76_78delGCG	13.37:g.100634403_100634405delGCG	ENSP00000365514:p.Ala33del						p.A33del	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN			1	369_371	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		33			Poly-Ala.		Q5VYA9|Q9H309	In_Frame_Del	DEL	ENST00000376335.3	37	c.76_78delGCG	CCDS9495.1																																																																																				0.759	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		3	3						3	3	---	---	---	---
IRS4	8471	broad.mit.edu	37	X	107977190	107977191	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chrX:107977190_107977191delAT	ENST00000372129.2	-	1	2460_2461	c.2384_2385delAT	c.(2383-2385)aatfs	p.N795fs	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	795	CRK-binding.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CACCCTGAGGATTTCTGGGGTT	0.465																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(2383-2385)afs		insulin receptor substrate 4																																				SO:0001589	frameshift_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107977190_107977191delAT	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.2384_2385delAT	X.37:g.107977190_107977191delAT	ENSP00000361202:p.Asn795fs						p.N795fs	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	2460_2461	-			795			CRK-binding.			Frame_Shift_Del	DEL	ENST00000372129.2	37	c.2384_2385delAT	CCDS14544.1																																																																																				0.465	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		20	101						20	101	---	---	---	---
