#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SZT2	23334	broad.mit.edu	37	1	43868961	43868961	+	Silent	SNP	C	C	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:43868961C>A	ENST00000562955.1	+	2	141	c.141C>A	c.(139-141)ccC>ccA	p.P47P	SZT2_ENST00000372450.4_Silent_p.P47P|SZT2_ENST00000310739.4_Silent_p.P47P	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	47					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						AGGCCACACCCCAGGAGATGC	0.517																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(139-141)ccC>ccA		seizure threshold 2 homolog (mouse)							66.0	62.0	63.0					1																	43868961		2203	4300	6503	SO:0001819	synonymous_variant	23334					peroxisome		g.chr1:43868961C>A	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.141C>A	1.37:g.43868961C>A			Somatic				SZT2_ENST00000372450.4_Silent_p.P47P|SZT2_ENST00000310739.4_Silent_p.P47P	p.P47P	NM_015284.3	NP_056099.3	WXS	Illumina GAIIx	Phase_I	Q5T011	SZT2_HUMAN			2	141	+			47					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	c.141C>A	CCDS30694.2																																																																																				0.517	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		4	53	4	53	---	---	---	---
ZSWIM5	57643	broad.mit.edu	37	1	45501859	45501859	+	Silent	SNP	C	C	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:45501859C>A	ENST00000359600.5	-	9	2212	c.2007G>T	c.(2005-2007)ctG>ctT	p.L669L	AL359473.1_ENST00000583502.1_RNA	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	669						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TCTGTTGACCCAGGCCCATCA	0.577																																						ENST00000359600.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(2005-2007)ctG>ctT		zinc finger, SWIM-type containing 5							75.0	72.0	73.0					1																	45501859		2015	4173	6188	SO:0001819	synonymous_variant	57643						zinc ion binding	g.chr1:45501859C>A	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.2007G>T	1.37:g.45501859C>A			Somatic					p.L669L	NM_020883.1	NP_065934.1	WXS	Illumina GAIIx	Phase_I	Q9P217	ZSWM5_HUMAN			9	2212	-	Acute lymphoblastic leukemia(166;0.155)		669					Q5SXQ9	Silent	SNP	ENST00000359600.5	37	c.2007G>T	CCDS41319.1																																																																																				0.577	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		4	75	4	75	---	---	---	---
MAST2	23139	broad.mit.edu	37	1	46493409	46493409	+	Silent	SNP	A	A	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:46493409A>T	ENST00000361297.2	+	17	2209	c.1926A>T	c.(1924-1926)ctA>ctT	p.L642L	MAST2_ENST00000372009.2_Silent_p.L572L	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2									p.L642L(1)		breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CCAGCCTCCTAATTACATCCA	0.423																																						ENST00000361297.2																			1	Substitution - coding silent(1)	p.L642L(1)	prostate(1)	breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.(1924-1926)ctA>ctT		microtubule associated serine/threonine kinase 2							99.0	95.0	96.0					1																	46493409		1880	4141	6021	SO:0001819	synonymous_variant	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46493409A>T	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.1926A>T	1.37:g.46493409A>T			Somatic				MAST2_ENST00000372009.2_Silent_p.L572L	p.L642L	NM_015112.2	NP_055927.2	WXS	Illumina GAIIx	Phase_I	Q6P0Q8	MAST2_HUMAN			17	2209	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		642			Protein kinase.			Silent	SNP	ENST00000361297.2	37	c.1926A>T	CCDS41326.1																																																																																				0.423	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		29	69	29	69	---	---	---	---
JAK1	3716	broad.mit.edu	37	1	65300335	65300335	+	Nonsense_Mutation	SNP	A	A	C			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:65300335A>C	ENST00000342505.4	-	25	3623	c.3375T>G	c.(3373-3375)taT>taG	p.Y1125*		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	1125	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.Y1125*(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TCATAAGTTGATAAACCTGTA	0.303			Mis		ALL																																	ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		1	Substitution - Nonsense(1)	p.Y1125*(1)	prostate(1)	breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(3373-3375)taT>taG		Janus kinase 1							76.0	71.0	72.0					1																	65300335		1798	4066	5864	SO:0001587	stop_gained	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65300335A>C	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.3375T>G	1.37:g.65300335A>C	ENSP00000343204:p.Tyr1125*		Somatic					p.Y1125*	NM_002227.2	NP_002218.2	WXS	Illumina GAIIx	Phase_I	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	25	3623	-			1125			Protein kinase 2.		Q59GQ2|Q9UD26	Nonsense_Mutation	SNP	ENST00000342505.4	37	c.3375T>G	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	A	42	9.300036	0.99130	.	.	ENSG00000162434	ENST00000342505	.	.	.	5.01	3.87	0.44632	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.8321	7.7928	0.29129	0.7902:0.0:0.2098:0.0	.	.	.	.	X	1125	.	ENSP00000343204:Y1125X	Y	-	3	2	JAK1	65072923	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	0.955000	0.29188	2.101000	0.63845	0.528000	0.53228	TAT		0.303	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		3	66	3	66	---	---	---	---
JAK1	3716	broad.mit.edu	37	1	65301865	65301865	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:65301865A>C	ENST00000342505.4	-	23	3422	c.3174T>G	c.(3172-3174)ttT>ttG	p.F1058L		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	1058	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.F1058L(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	AGGCAATATAAAATTTAGATT	0.423			Mis		ALL																																	ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		1	Substitution - Missense(1)	p.F1058L(1)	prostate(1)	breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(3172-3174)ttT>ttG		Janus kinase 1							82.0	79.0	80.0					1																	65301865		1876	4127	6003	SO:0001583	missense	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65301865A>C	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.3174T>G	1.37:g.65301865A>C	ENSP00000343204:p.Phe1058Leu		Somatic					p.F1058L	NM_002227.2	NP_002218.2	WXS	Illumina GAIIx	Phase_I	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	23	3422	-			1058			Protein kinase 2.		Q59GQ2|Q9UD26	Missense_Mutation	SNP	ENST00000342505.4	37	c.3174T>G	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	A	16.03	3.008013	0.54361	.	.	ENSG00000162434	ENST00000342505	D	0.88896	-2.44	5.02	-1.65	0.08291	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.88559	0.6469	L	0.49256	1.55	0.58432	D	0.999993	D	0.89917	1.0	D	0.83275	0.996	D	0.87010	0.2122	9	0.59425	D	0.04	-5.1318	11.9287	0.52835	0.5409:0.0:0.4591:0.0	.	1058	P23458	JAK1_HUMAN	L	1058	ENSP00000343204:F1058L	ENSP00000343204:F1058L	F	-	3	2	JAK1	65074453	0.998000	0.40836	0.988000	0.46212	0.195000	0.23768	0.614000	0.24314	-0.176000	0.10707	-0.408000	0.06270	TTT		0.423	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		3	35	3	35	---	---	---	---
FMO1	2326	broad.mit.edu	37	1	171250000	171250000	+	Missense_Mutation	SNP	T	T	C	rs148980563		TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:171250000T>C	ENST00000354841.4	+	5	834	c.703T>C	c.(703-705)Ttc>Ctc	p.F235L	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Missense_Mutation_p.F235L|FMO1_ENST00000402921.2_Missense_Mutation_p.F172L	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	235					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.F235L(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	GGACATGGTGTTCATGACACG	0.493													T|||	1	0.000199681	0.0	0.0014	5008	,	,		19470	0.0		0.0	False		,,,				2504	0.0					ENST00000354841.4																			1	Substitution - Missense(1)	p.F235L(1)	prostate(1)	NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27						c.(703-705)Ttc>Ctc		flavin containing monooxygenase 1		T	LEU/PHE	11,4395	17.9+/-39.9	0,11,2192	119.0	103.0	108.0		703	2.4	0.4	1	dbSNP_134	108	0,8600		0,0,4300	yes	missense	FMO1	NM_002021.1	22	0,11,6492	CC,CT,TT		0.0,0.2497,0.0846	benign	235/533	171250000	11,12995	2203	4300	6503	SO:0001583	missense	2326				NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171250000T>C	M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.703T>C	1.37:g.171250000T>C	ENSP00000346901:p.Phe235Leu		Somatic				FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Missense_Mutation_p.F235L|FMO1_ENST00000402921.2_Missense_Mutation_p.F172L	p.F235L	NM_001282692.1	NP_001269621.1	WXS	Illumina GAIIx	Phase_I	Q01740	FMO1_HUMAN			5	834	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		235					A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Missense_Mutation	SNP	ENST00000354841.4	37	c.703T>C	CCDS1294.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	8.570	0.879852	0.17467	0.002497	0.0	ENSG00000010932	ENST00000367750;ENST00000402921;ENST00000354841	T;T;T	0.43688	0.94;0.94;0.94	6.06	2.41	0.29592	.	0.345482	0.34046	N	0.004319	T	0.10937	0.0267	N	0.17901	0.54	0.40350	D	0.979123	P;B;P	0.41498	0.752;0.001;0.478	P;B;B	0.47346	0.544;0.004;0.305	T	0.18903	-1.0322	10	0.06099	T	0.92	-0.305	3.7208	0.08456	0.1306:0.071:0.1368:0.6617	.	172;235;235	B7Z3P4;B2RCG5;Q01740	.;.;FMO1_HUMAN	L	235;172;235	ENSP00000356724:F235L;ENSP00000385543:F172L;ENSP00000346901:F235L	ENSP00000346901:F235L	F	+	1	0	FMO1	169516624	0.003000	0.15002	0.381000	0.26106	0.974000	0.67602	0.523000	0.22925	0.150000	0.19136	-0.313000	0.08912	TTC		0.493	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021		18	61	18	61	---	---	---	---
FCAMR	83953	broad.mit.edu	37	1	207133044	207133044	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:207133044T>C	ENST00000324852.4	-	7	2027	c.1553A>G	c.(1552-1554)aAg>aGg	p.K518R	FCAMR_ENST00000486178.1_5'UTR|FCAMR_ENST00000450945.2_Missense_Mutation_p.S251G|FCAMR_ENST00000400962.3_Missense_Mutation_p.S251G	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	473					immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S251G(1)		endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						TCTCCAGAGCTTCCTTTGCAA	0.527																																					Ovarian(199;1883 2142 16966 44409 45154)	ENST00000324852.4																			1	Substitution - Missense(1)	p.S251G(1)	prostate(1)	endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						c.(1552-1554)aAg>aGg		Fc receptor, IgA, IgM, high affinity							139.0	133.0	135.0					1																	207133044		1568	3582	5150	SO:0001583	missense	83953					integral to membrane|plasma membrane	receptor activity	g.chr1:207133044T>C	AF354295	CCDS41460.1, CCDS53468.1	1q32.1	2013-01-14			ENSG00000162897	ENSG00000162897		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	24692	protein-coding gene	gene with protein product		605484				11779189	Standard	NM_001122979		Approved	FKSG87, FCA/MR, CD351	uc001hfa.4	Q8WWV6	OTTHUMG00000036579	ENST00000324852.4:c.1553A>G	1.37:g.207133044T>C	ENSP00000316491:p.Lys518Arg		Somatic				FCAMR_ENST00000450945.2_Missense_Mutation_p.S251G|FCAMR_ENST00000400962.3_Missense_Mutation_p.S251G|FCAMR_ENST00000486178.1_5'UTR	p.K518R	NM_001170631.1	NP_001164102.1	WXS	Illumina GAIIx	Phase_I	Q8WWV6	FCAMR_HUMAN			7	2027	-			473					Q32M82|Q8WWV5|Q96SA2	Missense_Mutation	SNP	ENST00000324852.4	37	c.1553A>G	CCDS53468.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.99|10.99	1.506918|1.506918	0.26949|0.26949	.|.	.|.	ENSG00000162897|ENSG00000162897	ENST00000324852|ENST00000400962;ENST00000450945	T|T;T	0.05855|0.08458	3.38|3.09;3.09	4.73|4.73	0.973|0.973	0.19710|0.19710	.|.	.|.	.|.	.|.	.|.	T|T	0.04452|0.04452	0.0122|0.0122	.|.	.|.	.|.	0.19945|0.19945	N|N	0.999947|0.999947	B;B|B	0.09022|0.17667	0.002;0.002|0.023	B;B|B	0.08055|0.19391	0.002;0.003|0.025	T|T	0.46541|0.46541	-0.9184|-0.9184	8|8	0.35671|0.21014	T|T	0.21|0.42	7.4614|7.4614	3.7496|3.7496	0.08561|0.08561	0.0:0.2078:0.1896:0.6026|0.0:0.2078:0.1896:0.6026	.|.	493;473|206	D2KTA8;Q8WWV6|Q8WWV6-2	.;FCAMR_HUMAN|.	R|G	518|251	ENSP00000316491:K518R|ENSP00000383746:S251G;ENSP00000392707:S251G	ENSP00000316491:K518R|ENSP00000383746:S251G	K|S	-|-	2|1	0|0	FCAMR|FCAMR	205199667|205199667	0.005000|0.005000	0.15991|0.15991	0.166000|0.166000	0.22797|0.22797	0.832000|0.832000	0.47134|0.47134	0.103000|0.103000	0.15292|0.15292	0.064000|0.064000	0.16427|0.16427	0.533000|0.533000	0.62120|0.62120	AAG|AGC		0.527	FCAMR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088969.2	NM_032029		37	151	37	151	---	---	---	---
JMJD4	65094	broad.mit.edu	37	1	227920349	227920349	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:227920349T>G	ENST00000366758.3	-	6	1135	c.1136A>C	c.(1135-1137)aAc>aCc	p.N379T	SNAP47_ENST00000366759.4_5'Flank|SNAP47_ENST00000315781.5_5'Flank|JMJD4_ENST00000485807.1_5'UTR|JMJD4_ENST00000438896.2_Missense_Mutation_p.N363T|SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000480897.1_3'UTR	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	379								p.N379T(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				CTCTTCAAAGTTGATGCCCGA	0.572																																						ENST00000366758.3																			2	Substitution - Missense(2)	p.N379T(2)	prostate(2)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9						c.(1135-1137)aAc>aCc		jumonji domain containing 4							68.0	62.0	64.0					1																	227920349		2203	4300	6503	SO:0001583	missense	65094							g.chr1:227920349T>G	AK022579	CCDS1561.1, CCDS59203.1	1q42.13	2008-02-05			ENSG00000081692	ENSG00000081692			25724	protein-coding gene	gene with protein product						12477932	Standard	NM_023007		Approved	FLJ12517	uc001hrb.3	Q9H9V9	OTTHUMG00000037698	ENST00000366758.3:c.1136A>C	1.37:g.227920349T>G	ENSP00000355720:p.Asn379Thr		Somatic				JMJD4_ENST00000438896.2_Missense_Mutation_p.N363T|JMJD4_ENST00000485807.1_5'UTR|SNAP47_ENST00000480897.1_3'UTR|SNAP47_ENST00000366760.1_Intron	p.N379T	NM_023007.2	NP_075383.2	WXS	Illumina GAIIx	Phase_I	Q9H9V9	JMJD4_HUMAN			6	1135	-		Prostate(94;0.0885)	379					Q5TBZ1|Q5TBZ6|Q9H970	Missense_Mutation	SNP	ENST00000366758.3	37	c.1136A>C	CCDS1561.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.5|23.5	4.425935|4.425935	0.83667|0.83667	.|.	.|.	ENSG00000081692|ENSG00000081692	ENST00000366758|ENST00000438896	T|.	0.25579|.	1.79|.	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	0.098369|.	0.64402|.	D|.	0.000003|.	T|T	0.71728|0.71728	0.3374|0.3374	M|M	0.72118|0.72118	2.19|2.19	0.41621|0.41621	D|D	0.98896|0.98896	D;D|.	0.71674|.	0.997;0.998|.	D;D|.	0.69479|.	0.962;0.964|.	T|T	0.72981|0.72981	-0.4126|-0.4126	10|5	0.33141|.	T|.	0.24|.	-30.4609|-30.4609	12.7331|12.7331	0.57208|0.57208	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	363;379|.	Q9H9V9-2;Q9H9V9|.	.;JMJD4_HUMAN|.	T|P	379|356	ENSP00000355720:N379T|.	ENSP00000355720:N379T|.	N|T	-|-	2|1	0|0	JMJD4|JMJD4	225986972|225986972	1.000000|1.000000	0.71417|0.71417	0.944000|0.944000	0.38274|0.38274	0.987000|0.987000	0.75469|0.75469	6.698000|6.698000	0.74608|0.74608	2.106000|2.106000	0.64143|0.64143	0.533000|0.533000	0.62120|0.62120	AAC|ACT		0.572	JMJD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091970.1	NM_023007		8	36	8	36	---	---	---	---
AHCTF1	25909	broad.mit.edu	37	1	247014376	247014376	+	Silent	SNP	G	G	C			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:247014376G>C	ENST00000391829.2	-	33	5055	c.4932C>G	c.(4930-4932)gcC>gcG	p.A1644A	AHCTF1_ENST00000326225.3_Silent_p.A1653A|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Silent_p.A1679A			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1644	Disordered. {ECO:0000250}.|Mediates transcriptional activity. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A1644A(1)|p.A1653A(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CACTAGTTACGGCAGATGGCA	0.363																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1																			2	Substitution - coding silent(2)	p.A1644A(1)|p.A1653A(1)	prostate(2)	NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74						c.(5035-5037)gcC>gcG		AT hook containing transcription factor 1							116.0	114.0	115.0					1																	247014376		2203	4300	6503	SO:0001819	synonymous_variant	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247014376G>C		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.4932C>G	1.37:g.247014376G>C			Somatic				AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Silent_p.A1653A|AHCTF1_ENST00000391829.2_Silent_p.A1644A	p.A1679A			WXS	Illumina GAIIx	Phase_I	Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		33	5173	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	1644			Mediates transcriptional activity (By similarity).|Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Silent	SNP	ENST00000391829.2	37	c.5037C>G																																																																																					0.363	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		7	164	7	164	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179537132	179537132	+	Splice_Site	SNP	A	A	G			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr2:179537132A>G	ENST00000591111.1	-	150	34033		c.e150+1		TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Splice_Site|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.?(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCAAAAATACCTTTAGCTG	0.328																																						ENST00000589042.1																			1	Unknown(1)	p.?(1)	prostate(1)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.e154+1		titin							155.0	158.0	157.0					2																	179537132		1823	4068	5891	SO:0001630	splice_region_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179537132A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.33808+1T>C	2.37:g.179537132A>G			Somatic				TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Splice_Site|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Splice_Site		NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		154	35155	-								A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Splice_Site	SNP	ENST00000591111.1	37			.	.	.	.	.	.	.	.	.	.	A	17.86	3.493204	0.64186	.	.	ENSG00000155657	ENST00000342992	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7672	0.78135	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTN	179245377	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.357000	0.59436	2.183000	0.69458	0.528000	0.53228	.		0.328	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Intron	10	264	10	264	---	---	---	---
XRCC5	7520	broad.mit.edu	37	2	216986819	216986819	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr2:216986819G>T	ENST00000392133.3	+	8	987	c.526G>T	c.(526-528)Ggg>Tgg	p.G176W	XRCC5_ENST00000392132.2_Missense_Mutation_p.G176W			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	176					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		AGATGGAAGTGGGGACAGAGG	0.438								Non-homologous end-joining																														ENST00000392133.3																			0				endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(526-528)Ggg>Tgg	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)							95.0	83.0	87.0					2																	216986819		2203	4300	6503	SO:0001583	missense	7520				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding	g.chr2:216986819G>T	AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"""Ku autoantigen, 80kDa"""	194364	"""X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"""			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.526G>T	2.37:g.216986819G>T	ENSP00000375978:p.Gly176Trp		Somatic				XRCC5_ENST00000392132.2_Missense_Mutation_p.G176W	p.G176W			WXS	Illumina GAIIx	Phase_I	P13010	XRCC5_HUMAN		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)	8	987	+		Renal(323;0.0328)	176					A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	ENST00000392133.3	37	c.526G>T	CCDS2402.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404474	0.42613	.	.	ENSG00000079246	ENST00000392133;ENST00000392132	T;T	0.31247	1.5;1.5	5.09	4.21	0.49690	Ku70/Ku80, N-terminal alpha/beta (1);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	T	0.53802	0.1819	M	0.76002	2.32	0.51482	D	0.999923	D	0.76494	0.999	D	0.81914	0.995	T	0.57745	-0.7758	10	0.54805	T	0.06	.	13.097	0.59197	0.0769:0.0:0.9231:0.0	.	176	P13010	XRCC5_HUMAN	W	176	ENSP00000375978:G176W;ENSP00000375977:G176W	ENSP00000375977:G176W	G	+	1	0	XRCC5	216695064	1.000000	0.71417	0.990000	0.47175	0.047000	0.14425	3.491000	0.53252	1.532000	0.49169	-0.142000	0.14014	GGG		0.438	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3	NM_021141		4	59	4	59	---	---	---	---
ANKRD28	23243	broad.mit.edu	37	3	15727591	15727591	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr3:15727591G>C	ENST00000399451.2	-	20	2364	c.1997C>G	c.(1996-1998)aCa>aGa	p.T666R	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.T699R	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	666						nucleus (GO:0005634)		p.T133R(1)|p.T699R(1)		breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						AACACAGTCTGTGTGCCCGTT	0.458																																						ENST00000399451.2																			2	Substitution - Missense(2)	p.T133R(1)|p.T699R(1)	prostate(2)	breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						c.(1996-1998)aCa>aGa		ankyrin repeat domain 28							114.0	102.0	106.0					3																	15727591		2010	4177	6187	SO:0001583	missense	23243					nucleoplasm	protein binding	g.chr3:15727591G>C	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.1997C>G	3.37:g.15727591G>C	ENSP00000382379:p.Thr666Arg		Somatic				ANKRD28_ENST00000383777.1_Missense_Mutation_p.T699R|ANKRD28_ENST00000497037.1_5'UTR	p.T666R	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	WXS	Illumina GAIIx	Phase_I	O15084	ANR28_HUMAN			20	2364	-			666					B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	ENST00000399451.2	37	c.1997C>G	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.081089	0.76528	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.15834	2.39;2.41;2.39	5.54	5.54	0.83059	Ankyrin repeat-containing domain (4);	0.149179	0.64402	D	0.000012	T	0.14830	0.0358	N	0.19112	0.55	0.80722	D	1	B;B;B	0.28082	0.2;0.151;0.071	B;B;B	0.29176	0.06;0.05;0.099	T	0.07347	-1.0777	10	0.36615	T	0.2	.	19.4692	0.94956	0.0:0.0:1.0:0.0	.	699;696;666	O15084-1;O15084-4;O15084	.;.;ANR28_HUMAN	R	666;699;666	ENSP00000382379:T666R;ENSP00000373287:T699R;ENSP00000397341:T666R	ENSP00000373287:T699R	T	-	2	0	ANKRD28	15702595	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	9.813000	0.99286	2.596000	0.87737	0.591000	0.81541	ACA		0.458	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199		4	22	4	22	---	---	---	---
PARP14	54625	broad.mit.edu	37	3	122418827	122418827	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr3:122418827G>A	ENST00000474629.2	+	6	1692	c.1426G>A	c.(1426-1428)Ggc>Agc	p.G476S		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	476					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.G313S(1)|p.G476S(1)		NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CATTTCTCCAGGCAGGTATTT	0.398																																						ENST00000474629.2																			2	Substitution - Missense(2)	p.G313S(1)|p.G476S(1)	prostate(2)	NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50						c.(1426-1428)Ggc>Agc		poly (ADP-ribose) polymerase family, member 14							79.0	72.0	74.0					3																	122418827		1836	4079	5915	SO:0001583	missense	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122418827G>A	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.1426G>A	3.37:g.122418827G>A	ENSP00000418194:p.Gly476Ser		Somatic					p.G476S	NM_017554.2	NP_060024.2	WXS	Illumina GAIIx	Phase_I	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	6	1692	+			476					B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	c.1426G>A	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	G	3.617	-0.078446	0.07184	.	.	ENSG00000173193	ENST00000474629;ENST00000398162	T	0.08807	3.05	5.32	2.47	0.30058	.	0.541551	0.17685	N	0.165474	T	0.05868	0.0153	L	0.38531	1.155	0.09310	N	1	B;P	0.37122	0.084;0.583	B;B	0.29942	0.037;0.109	T	0.34030	-0.9845	10	0.35671	T	0.21	.	7.8369	0.29376	0.2736:0.0:0.7264:0.0	.	476;476	Q460N5-4;Q460N5	.;PAR14_HUMAN	S	476;395	ENSP00000418194:G476S	ENSP00000381228:G395S	G	+	1	0	PARP14	123901517	0.006000	0.16342	0.002000	0.10522	0.009000	0.06853	1.131000	0.31406	0.338000	0.23692	-0.345000	0.07892	GGC		0.398	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		10	58	10	58	---	---	---	---
TBCK	93627	broad.mit.edu	37	4	107216263	107216263	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr4:107216263C>G	ENST00000273980.5	-	4	701	c.254G>C	c.(253-255)aGg>aCg	p.R85T	TBCK_ENST00000394706.3_Missense_Mutation_p.R85T|TBCK_ENST00000432496.2_Missense_Mutation_p.R85T|TBCK_ENST00000361687.4_Missense_Mutation_p.R85T|TBCK_ENST00000394708.2_Missense_Mutation_p.R85T					TBC1 domain containing kinase									p.R85T(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CACAGGTTTCCTTTCTCGAAG	0.378																																						ENST00000273980.5																			2	Substitution - Missense(2)	p.R85T(2)	prostate(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(253-255)aGg>aCg		TBC1 domain containing kinase							121.0	121.0	121.0					4																	107216263		2203	4300	6503	SO:0001583	missense	93627					intracellular	Rab GTPase activator activity	g.chr4:107216263C>G		CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.254G>C	4.37:g.107216263C>G	ENSP00000273980:p.Arg85Thr		Somatic				TBCK_ENST00000394708.2_Missense_Mutation_p.R85T|TBCK_ENST00000361687.4_Missense_Mutation_p.R85T|TBCK_ENST00000432496.2_Missense_Mutation_p.R85T|TBCK_ENST00000394706.3_Missense_Mutation_p.R85T	p.R85T			WXS	Illumina GAIIx	Phase_I	Q8TEA7	TBCK_HUMAN			4	701	-						Protein kinase.			Missense_Mutation	SNP	ENST00000273980.5	37	c.254G>C	CCDS54788.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.310314	0.40895	.	.	ENSG00000145348	ENST00000273980;ENST00000432496;ENST00000361687;ENST00000394706;ENST00000394708;ENST00000509532;ENST00000509862	T;T;T;T;T;T;T	0.07800	3.16;3.16;3.16;3.16;3.16;3.16;3.16	4.7	4.7	0.59300	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.208477	0.49916	D	0.000126	T	0.08935	0.0221	L	0.39397	1.21	0.33724	D	0.617421	B;B;B	0.32283	0.016;0.103;0.362	B;B;B	0.28305	0.038;0.088;0.088	T	0.12477	-1.0546	10	0.44086	T	0.13	.	16.1641	0.81743	0.0:1.0:0.0:0.0	.	85;85;85	Q8TEA7;Q8TEA7-2;Q8TEA7-3	TBCK_HUMAN;.;.	T	85	ENSP00000273980:R85T;ENSP00000405847:R85T;ENSP00000355338:R85T;ENSP00000378196:R85T;ENSP00000378198:R85T;ENSP00000420985:R85T;ENSP00000425197:R85T	ENSP00000273980:R85T	R	-	2	0	TBCK	107435712	0.999000	0.42202	1.000000	0.80357	0.940000	0.58332	4.792000	0.62467	2.326000	0.78906	0.460000	0.39030	AGG		0.378	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4	NM_033115		36	137	36	137	---	---	---	---
BBS12	166379	broad.mit.edu	37	4	123663744	123663744	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr4:123663744C>A	ENST00000314218.3	+	2	890	c.697C>A	c.(697-699)Cac>Aac	p.H233N	BBS12_ENST00000542236.1_Missense_Mutation_p.H233N	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	233					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)	p.H233N(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						AATACTAATCCACAGTAGGCA	0.388									Bardet-Biedl syndrome																													ENST00000542236.1																			1	Substitution - Missense(1)	p.H233N(1)	prostate(1)	cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						c.(697-699)Cac>Aac		Bardet-Biedl syndrome 12							86.0	87.0	87.0					4																	123663744		2203	4300	6503	SO:0001583	missense	166379	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process	cilium	ATP binding	g.chr4:123663744C>A	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"""Heat Shock Proteins / Chaperonins"""	26648	protein-coding gene	gene with protein product		610683	"""chromosome 4 open reading frame 24"""	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.697C>A	4.37:g.123663744C>A	ENSP00000319062:p.His233Asn		Somatic				BBS12_ENST00000314218.3_Missense_Mutation_p.H233N	p.H233N	NM_001178007.1	NP_001171478.1	WXS	Illumina GAIIx	Phase_I	Q6ZW61	BBS12_HUMAN			3	1078	+			233					D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	ENST00000314218.3	37	c.697C>A	CCDS3728.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.136641	0.56936	.	.	ENSG00000181004	ENST00000314218;ENST00000542236	D;D	0.81996	-1.56;-1.56	5.2	5.2	0.72013	.	0.063315	0.64402	D	0.000009	D	0.86797	0.6019	L	0.34521	1.04	0.50632	D	0.999884	D	0.76494	0.999	D	0.66084	0.941	D	0.88151	0.2851	10	0.72032	D	0.01	-9.732	19.1348	0.93422	0.0:1.0:0.0:0.0	.	233	Q6ZW61	BBS12_HUMAN	N	233	ENSP00000319062:H233N;ENSP00000438273:H233N	ENSP00000319062:H233N	H	+	1	0	BBS12	123883194	0.994000	0.37717	0.980000	0.43619	0.365000	0.29674	3.441000	0.52893	2.588000	0.87417	0.650000	0.86243	CAC		0.388	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	NM_152618		4	64	4	64	---	---	---	---
WWC2	80014	broad.mit.edu	37	4	184182184	184182184	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr4:184182184T>C	ENST00000403733.3	+	11	1607	c.1408T>C	c.(1408-1410)Tat>Cat	p.Y470H	WWC2_ENST00000448232.2_Missense_Mutation_p.Y470H|WWC2_ENST00000513834.1_Missense_Mutation_p.Y470H|WWC2_ENST00000504005.1_Missense_Mutation_p.Y152H|WWC2_ENST00000378925.3_Missense_Mutation_p.Y372H	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	470	Ser-rich.				negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)	p.Y470H(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CACCGAACTCTATTACAGCAG	0.502																																						ENST00000403733.3																			1	Substitution - Missense(1)	p.Y470H(1)	prostate(1)	NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32						c.(1408-1410)Tat>Cat		WW and C2 domain containing 2							79.0	76.0	77.0					4																	184182184		2203	4300	6503	SO:0001583	missense	80014							g.chr4:184182184T>C	BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.1408T>C	4.37:g.184182184T>C	ENSP00000384222:p.Tyr470His		Somatic				WWC2_ENST00000504005.1_Missense_Mutation_p.Y152H|WWC2_ENST00000378925.3_Missense_Mutation_p.Y372H|WWC2_ENST00000448232.2_Missense_Mutation_p.Y470H|WWC2_ENST00000513834.1_Missense_Mutation_p.Y470H	p.Y470H	NM_024949.5	NP_079225.5	WXS	Illumina GAIIx	Phase_I	Q6AWC2	WWC2_HUMAN		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)	11	1607	+		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)	470			Ser-rich.		Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Missense_Mutation	SNP	ENST00000403733.3	37	c.1408T>C	CCDS34109.2	.	.	.	.	.	.	.	.	.	.	T	15.97	2.990502	0.54041	.	.	ENSG00000151718	ENST00000403733;ENST00000378925;ENST00000513834;ENST00000448232;ENST00000504005	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	4.86	4.86	0.63082	.	0.000000	0.64402	D	0.000006	T	0.68412	0.2998	M	0.86651	2.83	0.53688	D	0.999973	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.74362	-0.3690	10	0.56958	D	0.05	-15.8765	14.628	0.68635	0.0:0.0:0.0:1.0	.	470;470	Q6AWC2;Q6AWC2-4	WWC2_HUMAN;.	H	470;372;470;470;152	ENSP00000384222:Y470H;ENSP00000368205:Y372H;ENSP00000425054:Y470H;ENSP00000398577:Y470H;ENSP00000427569:Y152H	ENSP00000368205:Y372H	Y	+	1	0	WWC2	184419178	1.000000	0.71417	0.904000	0.35570	0.055000	0.15305	7.833000	0.86765	2.046000	0.60703	0.528000	0.53228	TAT		0.502	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949		3	55	3	55	---	---	---	---
ARHGAP26	23092	broad.mit.edu	37	5	142513614	142513614	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr5:142513614C>A	ENST00000274498.4	+	19	2159	c.1781C>A	c.(1780-1782)cCg>cAg	p.P594Q	ARHGAP26_ENST00000378004.3_Missense_Mutation_p.P594Q	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	594	Ser-rich.				actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCAAGCCCCCGTCCTGCAGC	0.557																																						ENST00000378004.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25						c.(1780-1782)cCg>cAg		Rho GTPase activating protein 26							140.0	124.0	129.0					5																	142513614		2203	4300	6503	SO:0001583	missense	23092				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chr5:142513614C>A	AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"""Rho GTPase activating proteins"""	17073	protein-coding gene	gene with protein product	"""GTPase regulator associated with the focal adhesion kinase pp125"""	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.1781C>A	5.37:g.142513614C>A	ENSP00000274498:p.Pro594Gln		Somatic				ARHGAP26_ENST00000274498.4_Missense_Mutation_p.P594Q	p.P594Q	NM_001135608.1	NP_001129080.1	WXS	Illumina GAIIx	Phase_I	Q9UNA1	RHG26_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		19	2136	+		all_hematologic(541;0.0416)	594			Ser-rich.		O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Missense_Mutation	SNP	ENST00000274498.4	37	c.1781C>A	CCDS4277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.9|27.9	4.873483|4.873483	0.91664|0.91664	.|.	.|.	ENSG00000145819|ENSG00000145819	ENST00000274498;ENST00000378004;ENST00000418668|ENST00000443674;ENST00000418236	T;T|.	0.09073|.	3.02;3.12|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60366|0.60366	0.2263|0.2263	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	P;P;P|.	0.44690|.	0.47;0.841;0.605|.	B;B;B|.	0.40101|.	0.211;0.319;0.266|.	T|T	0.52087|0.52087	-0.8622|-0.8622	10|5	0.30854|.	T|.	0.27|.	.|.	19.1569|19.1569	0.93514|0.93514	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	594;167;594|.	Q9UNA1;B3KT96;Q9UNA1-2|.	RHG26_HUMAN;.;.|.	Q|S	594;594;167|213;166	ENSP00000274498:P594Q;ENSP00000367243:P594Q|.	ENSP00000274498:P594Q|.	P|R	+|+	2|1	0|0	ARHGAP26|ARHGAP26	142493807|142493807	0.997000|0.997000	0.39634|0.39634	0.990000|0.990000	0.47175|0.47175	0.999000|0.999000	0.98932|0.98932	5.607000|5.607000	0.67648|0.67648	2.825000|2.825000	0.97269|0.97269	0.655000|0.655000	0.94253|0.94253	CCG|CGT		0.557	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071		5	172	5	172	---	---	---	---
RBM27	54439	broad.mit.edu	37	5	145641192	145641192	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr5:145641192G>A	ENST00000265271.5	+	13	2179	c.2013G>A	c.(2011-2013)tgG>tgA	p.W671*	RBM27_ENST00000506502.1_Nonsense_Mutation_p.W616*	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	671	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.W671*(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGTCTTGTGGCATAGGGAAA	0.478																																						ENST00000265271.5																			1	Substitution - Nonsense(1)	p.W671*(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(2011-2013)tgG>tgA		RNA binding motif protein 27							169.0	152.0	158.0					5																	145641192		1568	3582	5150	SO:0001587	stop_gained	54439				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr5:145641192G>A	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.2013G>A	5.37:g.145641192G>A	ENSP00000265271:p.Trp671*		Somatic				RBM27_ENST00000506502.1_Nonsense_Mutation_p.W616*	p.W671*	NM_018989.1	NP_061862.1	WXS	Illumina GAIIx	Phase_I	Q9P2N5	RBM27_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		13	2179	+			671			RRM.		Q8IYW9	Nonsense_Mutation	SNP	ENST00000265271.5	37	c.2013G>A	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	G	41	8.870053	0.98984	.	.	ENSG00000091009	ENST00000265271	.	.	.	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7965	19.3994	0.94621	0.0:0.0:1.0:0.0	.	.	.	.	X	671	.	ENSP00000265271:W671X	W	+	3	0	RBM27	145621385	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.593000	0.87608	0.561000	0.74099	TGG		0.478	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		5	158	5	158	---	---	---	---
CPEB4	80315	broad.mit.edu	37	5	173317603	173317603	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr5:173317603G>T	ENST00000265085.5	+	1	2321	c.867G>T	c.(865-867)caG>caT	p.Q289H	CPEB4_ENST00000520867.1_Missense_Mutation_p.Q289H|CPEB4_ENST00000519835.1_Missense_Mutation_p.Q289H|CPEB4_ENST00000522336.1_5'Flank|CPEB4_ENST00000334035.5_Missense_Mutation_p.Q289H|CPEB4_ENST00000517880.1_5'Flank	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	289					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Q289H(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCAGCTACCAGAGTCCGTCAC	0.577																																						ENST00000265085.5																			1	Substitution - Missense(1)	p.Q289H(1)	prostate(1)	NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20						c.(865-867)caG>caT		cytoplasmic polyadenylation element binding protein 4							150.0	163.0	158.0					5																	173317603		2203	4300	6503	SO:0001583	missense	80315						nucleotide binding|RNA binding	g.chr5:173317603G>T	BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"""RNA binding motif (RRM) containing"""	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.867G>T	5.37:g.173317603G>T	ENSP00000265085:p.Gln289His		Somatic				CPEB4_ENST00000334035.5_Missense_Mutation_p.Q289H|CPEB4_ENST00000520867.1_Missense_Mutation_p.Q289H|CPEB4_ENST00000519835.1_Missense_Mutation_p.Q289H	p.Q289H	NM_030627.2	NP_085130.2	WXS	Illumina GAIIx	Phase_I	Q17RY0	CPEB4_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		1	2321	+	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	289					B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Missense_Mutation	SNP	ENST00000265085.5	37	c.867G>T	CCDS4390.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.316047	0.40996	.	.	ENSG00000113742	ENST00000265085;ENST00000520867;ENST00000334035;ENST00000519835	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.33	4.34	0.51931	.	0.049060	0.85682	D	0.000000	T	0.53334	0.1790	M	0.65498	2.005	0.80722	D	1	B;D;D;B	0.58970	0.005;0.98;0.984;0.001	B;P;P;B	0.53593	0.004;0.632;0.73;0.002	T	0.57917	-0.7728	10	0.87932	D	0	-10.246	6.2081	0.20613	0.2729:0.0:0.7271:0.0	.	289;289;289;289	B7ZLQ8;Q17RY0-2;E5RJM0;Q17RY0	.;.;.;CPEB4_HUMAN	H	289	ENSP00000265085:Q289H;ENSP00000429092:Q289H;ENSP00000334533:Q289H;ENSP00000429048:Q289H	ENSP00000265085:Q289H	Q	+	3	2	CPEB4	173250209	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	3.524000	0.53495	2.496000	0.84212	0.557000	0.71058	CAG		0.577	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		7	227	7	227	---	---	---	---
HIST1H3G	8355	broad.mit.edu	37	6	26271452	26271452	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr6:26271452C>T	ENST00000305910.3	-	1	160	c.161G>A	c.(160-162)cGc>cAc	p.R54H	HIST1H2BI_ENST00000377733.2_5'Flank	NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	54					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.R54H(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						CTTCTGATAGCGGCGAATCTC	0.607																																						ENST00000305910.3																			1	Substitution - Missense(1)	p.R54H(1)	prostate(1)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(160-162)cGc>cAc		histone cluster 1, H3g							65.0	69.0	67.0					6																	26271452		2203	4300	6503	SO:0001583	missense	8355				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26271452C>T	Z80785	CCDS4602.1	6p22.1	2011-07-22	2006-10-11	2003-03-14	ENSG00000256018			"""Histones / Replication-dependent"""	4772	protein-coding gene	gene with protein product		602815	"""H3 histone family, member H"", ""histone 1, H3g"""	H3FH		9119399, 12408966	Standard	NM_003534		Approved	H3/h	uc003nhi.3	P68431	OTTHUMG00000014436	ENST00000305910.3:c.161G>A	6.37:g.26271452C>T	ENSP00000439660:p.Arg54His		Somatic					p.R54H	NM_003534.2	NP_003525.1	WXS	Illumina GAIIx	Phase_I	P68431	H31_HUMAN			1	160	-			54					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000305910.3	37	c.161G>A	CCDS4602.1	.	.	.	.	.	.	.	.	.	.	.	17.70	3.453477	0.63290	.	.	ENSG00000256018	ENST00000305910	T	0.46063	0.88	4.42	4.42	0.53409	.	.	.	.	.	T	0.51075	0.1653	.	.	.	0.45272	D	0.998279	.	.	.	.	.	.	T	0.56438	-0.7979	6	0.59425	D	0.04	.	16.4001	0.83637	0.0:1.0:0.0:0.0	.	.	.	.	H	54	ENSP00000439660:R54H	ENSP00000439660:R54H	R	-	2	0	HIST1H3G	26379431	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.676000	0.61627	2.183000	0.69458	0.563000	0.77884	CGC		0.607	HIST1H3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040099.2	NM_003534		7	105	7	105	---	---	---	---
COL11A2	1302	broad.mit.edu	37	6	33139307	33139307	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr6:33139307C>A	ENST00000374708.4	-	41	3195	c.2937G>T	c.(2935-2937)caG>caT	p.Q979H	COL11A2_ENST00000341947.2_Missense_Mutation_p.Q1065H|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Missense_Mutation_p.Q984H|COL11A2_ENST00000357486.1_Missense_Mutation_p.Q1044H|COL11A2_ENST00000361917.1_Missense_Mutation_p.Q958H|COL11A2_ENST00000374713.1_Missense_Mutation_p.Q1018H|COL11A2_ENST00000395197.1_Missense_Mutation_p.Q1005H|COL11A2_ENST00000374714.1_Missense_Mutation_p.Q1039H	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1065	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCACAGGACCCTGCACTCCAT	0.632																																					Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(3193-3195)caG>caT		collagen, type XI, alpha 2							36.0	38.0	37.0					6																	33139307		2203	4300	6503	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33139307C>A	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.2937G>T	6.37:g.33139307C>A	ENSP00000363840:p.Gln979His		Somatic				COL11A2_ENST00000374712.1_Missense_Mutation_p.Q984H|COL11A2_ENST00000357486.1_Missense_Mutation_p.Q1044H|COL11A2_ENST00000361917.1_Missense_Mutation_p.Q958H|COL11A2_ENST00000374708.4_Missense_Mutation_p.Q979H|COL11A2_ENST00000374714.1_Missense_Mutation_p.Q1039H|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000395197.1_Missense_Mutation_p.Q1005H|COL11A2_ENST00000374713.1_Missense_Mutation_p.Q1018H	p.Q1065H	NM_080680.2	NP_542411.2	WXS	Illumina GAIIx	Phase_I	P13942	COBA2_HUMAN			43	3422	-			1065			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.3195G>T	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.806305	0.31961	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24;-3.24;-3.23;-3.24;-3.23	3.79	2.8	0.32819	.	0.000000	0.85682	D	0.000000	D	0.93429	0.7904	M	0.72576	2.205	0.53688	D	0.999979	D;D;D	0.67145	0.994;0.994;0.996	D;D;D	0.79108	0.953;0.969;0.992	D	0.92204	0.5770	10	0.49607	T	0.09	.	4.4167	0.11459	0.0:0.7268:0.0:0.2732	.	958;979;1065	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	H	979;1065;1044;1039;1018;1005;984;958	ENSP00000363840:Q979H;ENSP00000339915:Q1065H;ENSP00000350079:Q1044H;ENSP00000363846:Q1039H;ENSP00000363845:Q1018H;ENSP00000378623:Q1005H;ENSP00000363844:Q984H;ENSP00000355123:Q958H	ENSP00000339915:Q1065H	Q	-	3	2	COL11A2	33247285	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	0.746000	0.26275	1.945000	0.56424	0.297000	0.19635	CAG		0.632	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			4	61	4	61	---	---	---	---
SLC26A8	116369	broad.mit.edu	37	6	35927567	35927567	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr6:35927567C>A	ENST00000490799.1	-	15	2008	c.1655G>T	c.(1654-1656)gGg>gTg	p.G552V	SLC26A8_ENST00000355574.2_Missense_Mutation_p.G552V|SLC26A8_ENST00000394602.2_Missense_Mutation_p.G447V	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GATTTTCACCCCAGGAATGGT	0.383																																						ENST00000490799.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						c.(1654-1656)gGg>gTg		solute carrier family 26 (anion exchanger), member 8							98.0	97.0	97.0					6																	35927567		2203	4300	6503	SO:0001583	missense	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35927567C>A	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.1655G>T	6.37:g.35927567C>A	ENSP00000417638:p.Gly552Val		Somatic				SLC26A8_ENST00000355574.2_Missense_Mutation_p.G552V|SLC26A8_ENST00000394602.2_Missense_Mutation_p.G447V	p.G552V	NM_052961.3	NP_443193.1	WXS	Illumina GAIIx	Phase_I	Q96RN1	S26A8_HUMAN			15	2008	-			552			STAS.			Missense_Mutation	SNP	ENST00000490799.1	37	c.1655G>T	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858298	0.71834	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.95069	-3.6;-3.6;-3.6	5.82	5.82	0.92795	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.000000	0.64402	D	0.000002	D	0.96065	0.8718	L	0.60455	1.87	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.96332	0.9244	10	0.87932	D	0	.	15.6535	0.77115	0.0:1.0:0.0:0.0	.	552;447;134	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	V	552;447;552	ENSP00000417638:G552V;ENSP00000378100:G447V;ENSP00000347778:G552V	ENSP00000347778:G552V	G	-	2	0	SLC26A8	36035545	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	4.300000	0.59079	2.764000	0.94973	0.650000	0.86243	GGG		0.383	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			6	112	6	112	---	---	---	---
BAI3	577	broad.mit.edu	37	6	69758171	69758171	+	Silent	SNP	C	C	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr6:69758171C>T	ENST00000370598.1	+	14	3023	c.2202C>T	c.(2200-2202)aaC>aaT	p.N734N		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	734					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.N734N(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GGGCAAGAAACTCAGAAGATA	0.383																																						ENST00000370598.1																			2	Substitution - coding silent(2)	p.N734N(2)	prostate(2)	NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(2200-2202)aaC>aaT		brain-specific angiogenesis inhibitor 3							78.0	83.0	81.0					6																	69758171		2203	4300	6503	SO:0001819	synonymous_variant	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69758171C>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2202C>T	6.37:g.69758171C>T			Somatic					p.N734N	NM_001704.2	NP_001695	WXS	Illumina GAIIx	Phase_I	O60242	BAI3_HUMAN			14	3023	+		all_lung(197;0.212)	734					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	c.2202C>T	CCDS4968.1																																																																																				0.383	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			9	52	9	52	---	---	---	---
PPIL4	85313	broad.mit.edu	37	6	149826610	149826610	+	Silent	SNP	T	T	C			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr6:149826610T>C	ENST00000253329.2	-	13	1490	c.1458A>G	c.(1456-1458)aaA>aaG	p.K486K	PPIL4_ENST00000340881.2_Missense_Mutation_p.K119R	NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	486					protein folding (GO:0006457)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)	p.K486K(1)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		TAGATTTTTCTTTATCTTTGG	0.338																																						ENST00000340881.2																			1	Substitution - coding silent(1)	p.K486K(1)	prostate(1)	endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13						c.(355-357)aAg>aGg		peptidylprolyl isomerase (cyclophilin)-like 4							161.0	154.0	156.0					6																	149826610		2203	4300	6503	SO:0001819	synonymous_variant	85313				protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding	g.chr6:149826610T>C		CCDS34550.1	6q25.1	2013-02-12			ENSG00000131013	ENSG00000131013		"""RNA binding motif (RRM) containing"""	15702	protein-coding gene	gene with protein product		607609					Standard	NM_139126		Approved		uc003qmo.2	Q8WUA2	OTTHUMG00000015788	ENST00000253329.2:c.1458A>G	6.37:g.149826610T>C			Somatic				PPIL4_ENST00000253329.2_Silent_p.K486K	p.K119R			WXS	Illumina GAIIx	Phase_I	Q8WUA2	PPIL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)	3	889	-		Ovarian(120;0.0164)	483			PPIase cyclophilin-type.		B2RD34|Q7Z3Q5	Missense_Mutation	SNP	ENST00000253329.2	37	c.356A>G	CCDS34550.1	.	.	.	.	.	.	.	.	.	.	T	12.64	1.997558	0.35226	.	.	ENSG00000131013	ENST00000340881	.	.	.	6.05	4.88	0.63580	.	0.249820	0.42172	D	0.000760	T	0.29223	0.0727	.	.	.	0.21386	N	0.999704	.	.	.	.	.	.	T	0.21245	-1.0251	6	0.87932	D	0	.	8.7375	0.34537	0.0:0.1459:0.0:0.8541	.	.	.	.	R	119	.	ENSP00000344128:K119R	K	-	2	0	PPIL4	149868303	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.556000	0.36288	1.109000	0.41680	0.528000	0.53228	AAG		0.338	PPIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042642.1			14	95	14	95	---	---	---	---
CLDN12	9069	broad.mit.edu	37	7	90042673	90042673	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr7:90042673C>T	ENST00000287916.4	+	3	970	c.683C>T	c.(682-684)tCt>tTt	p.S228F	CLDN12_ENST00000394605.2_Missense_Mutation_p.S228F|CTB-13L3.1_ENST00000480135.1_RNA|CLDN12_ENST00000535571.1_Missense_Mutation_p.S228F	NM_001185073.2|NM_012129.4	NP_001172002.1|NP_036261.1	P56749	CLD12_HUMAN	claudin 12	228					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.S228F(1)		breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						TCAGCACGCTCTCGCCTCTCT	0.423																																						ENST00000535571.1																			1	Substitution - Missense(1)	p.S228F(1)	prostate(1)	breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						c.(682-684)tCt>tTt		claudin 12							151.0	143.0	146.0					7																	90042673		2203	4300	6503	SO:0001583	missense	9069				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr7:90042673C>T	AJ250713	CCDS5618.1	7q21	2008-07-18			ENSG00000157224	ENSG00000157224		"""Claudins"""	2034	protein-coding gene	gene with protein product		611232					Standard	NM_001185072		Approved		uc003ukr.3	P56749	OTTHUMG00000156612	ENST00000287916.4:c.683C>T	7.37:g.90042673C>T	ENSP00000287916:p.Ser228Phe		Somatic				CLDN12_ENST00000394605.2_Missense_Mutation_p.S228F|CLDN12_ENST00000287916.4_Missense_Mutation_p.S228F|CTB-13L3.1_ENST00000480135.1_RNA	p.S228F	NM_001185072.2	NP_001172001.1	WXS	Illumina GAIIx	Phase_I	P56749	CLD12_HUMAN			2	992	+			228					D6W5Q4|Q7LDZ0	Missense_Mutation	SNP	ENST00000287916.4	37	c.683C>T	CCDS5618.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803758	0.70682	.	.	ENSG00000157224	ENST00000496677;ENST00000287916;ENST00000535571;ENST00000394605	T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.80675	0.4668	N	0.19112	0.55	0.50813	D	0.999892	D	0.53745	0.962	P	0.54664	0.758	T	0.82908	-0.0224	10	0.72032	D	0.01	-19.2323	19.6941	0.96016	0.0:1.0:0.0:0.0	.	228	P56749	CLD12_HUMAN	F	228	ENSP00000419053:S228F;ENSP00000287916:S228F;ENSP00000443476:S228F;ENSP00000378103:S228F	ENSP00000287916:S228F	S	+	2	0	CLDN12	89880609	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.946000	0.75953	2.885000	0.99019	0.655000	0.94253	TCT		0.423	CLDN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059221.1	NM_012129		40	145	40	145	---	---	---	---
PHF20L1	51105	broad.mit.edu	37	8	133844506	133844506	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr8:133844506C>A	ENST00000395386.2	+	15	2070	c.1771C>A	c.(1771-1773)Ctc>Atc	p.L591I	PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395390.2_Missense_Mutation_p.L566I	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	591							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AGACAGTTCCCTCGAATTTTT	0.363																																						ENST00000395386.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15						c.(1771-1773)Ctc>Atc		PHD finger protein 20-like 1							182.0	172.0	175.0					8																	133844506		1838	4083	5921	SO:0001583	missense	51105						nucleic acid binding|zinc ion binding	g.chr8:133844506C>A	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.1771C>A	8.37:g.133844506C>A	ENSP00000378784:p.Leu591Ile		Somatic				PHF20L1_ENST00000395390.2_Missense_Mutation_p.L566I|PHF20L1_ENST00000220847.7_5'UTR	p.L591I	NM_016018.4	NP_057102.4	WXS	Illumina GAIIx	Phase_I	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		15	2070	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		591					A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	c.1771C>A	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	C	13.89	2.370843	0.42003	.	.	ENSG00000129292	ENST00000395386;ENST00000395390	T;T	0.32272	1.46;1.46	5.56	3.69	0.42338	.	0.407958	0.28230	N	0.016120	T	0.19087	0.0458	L	0.44542	1.39	0.80722	D	1	B;B	0.28291	0.206;0.131	B;B	0.24541	0.054;0.035	T	0.09707	-1.0662	10	0.21540	T	0.41	-10.6165	2.1594	0.03821	0.1447:0.5104:0.16:0.1849	.	566;591	F8W9L8;A8MW92	.;P20L1_HUMAN	I	591;566	ENSP00000378784:L591I;ENSP00000378788:L566I	ENSP00000378784:L591I	L	+	1	0	PHF20L1	133913688	0.964000	0.33143	1.000000	0.80357	0.998000	0.95712	0.187000	0.16998	0.748000	0.32831	0.650000	0.86243	CTC		0.363	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		6	165	6	165	---	---	---	---
KLF4	9314	broad.mit.edu	37	9	110249346	110249346	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr9:110249346C>G	ENST00000374672.4	-	4	1700	c.1227G>C	c.(1225-1227)aaG>aaC	p.K409N		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	443	Pro-rich.				cellular response to cycloheximide (GO:0071409)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to peptide (GO:1901653)|epidermal cell differentiation (GO:0009913)|epidermis morphogenesis (GO:0048730)|fat cell differentiation (GO:0045444)|mesodermal cell fate determination (GO:0007500)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of muscle hyperplasia (GO:0014740)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic camera-type eye development (GO:0031077)|post-embryonic hemopoiesis (GO:0035166)|regulation of cell differentiation (GO:0045595)|response to retinoic acid (GO:0032526)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001010)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.K409N(1)|p.K400N(1)		breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GATGGGAACTCTTTGTGTAGG	0.592																																						ENST00000374672.4																			2	Substitution - Missense(2)	p.K409N(1)|p.K400N(1)	prostate(2)	breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						c.(1225-1227)aaG>aaC		Kruppel-like factor 4 (gut)							294.0	262.0	273.0					9																	110249346		2203	4300	6503	SO:0001583	missense	9314				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr9:110249346C>G	AF022184	CCDS6770.2	9q31	2013-01-08			ENSG00000136826	ENSG00000136826		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6348	protein-coding gene	gene with protein product		602253				9422764, 16372018	Standard	NM_004235		Approved	EZF, GKLF	uc004bdg.3	O43474	OTTHUMG00000020449	ENST00000374672.4:c.1227G>C	9.37:g.110249346C>G	ENSP00000363804:p.Lys409Asn		Somatic					p.K409N	NM_004235.4	NP_004226.3	WXS	Illumina GAIIx	Phase_I	O43474	KLF4_HUMAN			4	1700	-			443			Pro-rich.		B2R8S4|B3KT79|L0R3I6|L0R4N5|P78338|Q5T3J8|Q5T3J9|Q8N717|Q9UNP3	Missense_Mutation	SNP	ENST00000374672.4	37	c.1227G>C	CCDS6770.2	.	.	.	.	.	.	.	.	.	.	C	24.1	4.492767	0.84962	.	.	ENSG00000136826	ENST00000374672	T	0.36157	1.27	5.57	4.67	0.58626	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.554792	0.15210	N	0.274523	T	0.65026	0.2652	M	0.89601	3.045	0.80722	D	1	P;D	0.59767	0.89;0.986	B;D	0.63283	0.419;0.913	T	0.71414	-0.4600	10	0.87932	D	0	.	13.8488	0.63483	0.0:0.9259:0.0:0.0741	.	443;409	O43474;O43474-1	KLF4_HUMAN;.	N	409	ENSP00000363804:K409N	ENSP00000363804:K409N	K	-	3	2	KLF4	109289167	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.675000	0.46875	1.353000	0.45828	0.655000	0.94253	AAG		0.592	KLF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053556.2	NM_004235		12	192	12	192	---	---	---	---
AGPAT2	10555	broad.mit.edu	37	9	139581703	139581703	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr9:139581703A>T	ENST00000371696.2	-	1	172	c.107T>A	c.(106-108)cTg>cAg	p.L36Q	AGPAT2_ENST00000371694.3_Missense_Mutation_p.L36Q|AGPAT2_ENST00000538402.1_Missense_Mutation_p.L36Q	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	36					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|epidermis development (GO:0008544)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.L36Q(1)		endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		CGTGAAGCACAGCGCGCAGTA	0.726																																						ENST00000371696.2																			1	Substitution - Missense(1)	p.L36Q(1)	prostate(1)	endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6						c.(106-108)cTg>cAg		1-acylglycerol-3-phosphate O-acyltransferase 2							18.0	21.0	20.0					9																	139581703		1981	4000	5981	SO:0001583	missense	10555				phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr9:139581703A>T	AF000237	CCDS7003.1, CCDS35181.1	9q34.3	2013-02-05	2013-02-05		ENSG00000169692	ENSG00000169692	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	325	protein-coding gene	gene with protein product	"""LPAAT-beta"", ""lysophosphatidic acid acyltransferase, beta"""	603100	"""Berardinelli-Seip congenital lipodystrophy"", ""1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)"""	BSCL		9242711, 9212163	Standard	NM_006412		Approved		uc004cii.1	O15120	OTTHUMG00000020936	ENST00000371696.2:c.107T>A	9.37:g.139581703A>T	ENSP00000360761:p.Leu36Gln		Somatic				AGPAT2_ENST00000538402.1_Missense_Mutation_p.L36Q|AGPAT2_ENST00000371694.3_Missense_Mutation_p.L36Q	p.L36Q	NM_006412.3	NP_006403.2	WXS	Illumina GAIIx	Phase_I	O15120	PLCB_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)	1	172	-	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)	36					O00516|O15106|Q5VUD3|Q5VUD4|Q9BSV7|Q9BWR7	Missense_Mutation	SNP	ENST00000371696.2	37	c.107T>A	CCDS7003.1	.	.	.	.	.	.	.	.	.	.	A	18.16	3.563288	0.65538	.	.	ENSG00000169692	ENST00000371694;ENST00000371696;ENST00000538402	D;D;D	0.88741	-2.19;-2.42;-2.42	2.34	1.13	0.20643	.	0.442058	0.21060	U	0.080853	D	0.88797	0.6534	L	0.53249	1.67	0.32468	N	0.543233	D;P	0.57571	0.98;0.939	P;P	0.58721	0.844;0.62	D	0.86068	0.1536	10	0.37606	T	0.19	.	5.8652	0.18771	0.7658:0.0:0.0:0.2342	.	36;36	O15120-2;O15120	.;PLCB_HUMAN	Q	36	ENSP00000360759:L36Q;ENSP00000360761:L36Q;ENSP00000438919:L36Q	ENSP00000360759:L36Q	L	-	2	0	AGPAT2	138701524	0.044000	0.20184	0.829000	0.32907	0.774000	0.43823	0.601000	0.24119	0.315000	0.23110	0.255000	0.18592	CTG		0.726	AGPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055090.1	NM_006412		5	34	5	34	---	---	---	---
ZNF33A	7581	broad.mit.edu	37	10	38345420	38345420	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr10:38345420A>T	ENST00000458705.2	+	5	2523	c.2365A>T	c.(2365-2367)Agc>Tgc	p.S789C	ZNF33A_ENST00000432900.2_Missense_Mutation_p.S796C|ZNF33A_ENST00000374618.3_Missense_Mutation_p.S790C|ZNF33A_ENST00000307441.9_Missense_Mutation_p.S789C|ZNF33A_ENST00000469037.2_Intron			Q06730	ZN33A_HUMAN	zinc finger protein 33A	789					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S789C(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						GCCACAAGTCAGCCTCCATAA	0.378																																						ENST00000374618.3																			1	Substitution - Missense(1)	p.S789C(1)	prostate(1)	cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						c.(2368-2370)Agc>Tgc		zinc finger protein 33A							63.0	62.0	62.0					10																	38345420		2203	4300	6503	SO:0001583	missense	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38345420A>T	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.2365A>T	10.37:g.38345420A>T	ENSP00000387713:p.Ser789Cys		Somatic				ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000432900.2_Missense_Mutation_p.S796C|ZNF33A_ENST00000307441.9_Missense_Mutation_p.S789C|ZNF33A_ENST00000458705.2_Missense_Mutation_p.S789C	p.S790C	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	WXS	Illumina GAIIx	Phase_I	Q06730	ZN33A_HUMAN			5	2546	+			789					A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	c.2368A>T	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	A	9.776	1.173924	0.21704	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.08008	3.14;3.33;3.14;3.14	1.34	1.34	0.21922	.	.	.	.	.	T	0.08223	0.0205	N	0.08118	0	0.09310	N	1	D;P;D	0.53462	0.96;0.932;0.96	P;P;P	0.56042	0.79;0.621;0.79	T	0.31420	-0.9944	9	0.87932	D	0	.	6.7574	0.23523	1.0:0.0:0.0:0.0	.	796;789;790	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	C	790;796;789;789	ENSP00000363747:S790C;ENSP00000402467:S796C;ENSP00000387713:S789C;ENSP00000304268:S789C	ENSP00000304268:S789C	S	+	1	0	ZNF33A	38385426	0.000000	0.05858	0.068000	0.19968	0.058000	0.15608	0.131000	0.15870	0.864000	0.35578	0.260000	0.18958	AGC		0.378	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		16	59	16	59	---	---	---	---
LRRC27	80313	broad.mit.edu	37	10	134145147	134145147	+	5'Flank	SNP	G	G	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr10:134145147G>A	ENST00000368614.3	+	0	0				LRRC27_ENST00000368615.3_5'Flank|LRRC27_ENST00000344079.5_5'Flank|LRRC27_ENST00000392638.2_5'Flank|STK32C_ENST00000368625.4_Missense_Mutation_p.L32F|LRRC27_ENST00000356571.4_5'Flank|LRRC27_ENST00000368613.4_5'Flank	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27									p.L32F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CCGCTCCAAAGGTGGTGCCTC	0.682																																						ENST00000368625.4																			1	Substitution - Missense(1)	p.L32F(1)	prostate(1)	breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23						c.(94-96)Ctt>Ttt		serine/threonine kinase 32C							51.0	57.0	55.0					10																	134145147		876	1991	2867	SO:0001631	upstream_gene_variant	282974						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr10:134145147G>A	AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284		10.37:g.134145147G>A	Exception_encountered		Somatic					p.L32F			WXS	Illumina GAIIx	Phase_I	Q86UX6	ST32C_HUMAN		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)	1	179	-		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)	0					A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Missense_Mutation	SNP	ENST00000368614.3	37	c.94C>T	CCDS31316.1	.	.	.	.	.	.	.	.	.	.	G	4.161	0.028295	0.08054	.	.	ENSG00000165752	ENST00000368625;ENST00000368620	T	0.67171	-0.25	0.158	0.158	0.14942	.	.	.	.	.	T	0.65439	0.2691	.	.	.	0.09310	N	1	P	0.44006	0.824	P	0.48704	0.587	T	0.57130	-0.7864	7	0.87932	D	0	.	.	.	.	.	32	B7Z7J1	.	F	32;69	ENSP00000357614:L32F	ENSP00000357609:L69F	L	-	1	0	STK32C	133995137	0.015000	0.18098	0.028000	0.17463	0.028000	0.11728	0.228000	0.17814	0.202000	0.20498	0.205000	0.17691	CTT		0.682	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	XM_290462		21	41	21	41	---	---	---	---
ATG13	9776	broad.mit.edu	37	11	46671807	46671807	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr11:46671807G>T	ENST00000434074.1	+	6	1087	c.398G>T	c.(397-399)aGg>aTg	p.R133M	ATG13_ENST00000451945.1_Missense_Mutation_p.R133M|ATG13_ENST00000312040.4_Missense_Mutation_p.R133M|ATG13_ENST00000529655.1_Missense_Mutation_p.R133M|ATG13_ENST00000530500.1_Missense_Mutation_p.R54M|ATG13_ENST00000526508.1_Missense_Mutation_p.R133M|ATG13_ENST00000524625.1_Missense_Mutation_p.R133M|ATG13_ENST00000528494.1_Missense_Mutation_p.R133M|ATG13_ENST00000359513.4_Missense_Mutation_p.R133M	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	133					autophagic vacuole assembly (GO:0000045)	ATG1/UKL1 signaling complex (GO:0034273)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)|ULK1-ATG13-FIP200 complex (GO:0070969)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						GCTATAACTAGGGTGACACCA	0.428																																						ENST00000434074.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						c.(397-399)aGg>aTg		autophagy related 13							135.0	126.0	129.0					11																	46671807		2201	4299	6500	SO:0001583	missense	9776				autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr11:46671807G>T	AB014552	CCDS7921.1, CCDS44582.1, CCDS55760.1, CCDS55761.1	11p11.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000175224	ENSG00000175224			29091	protein-coding gene	gene with protein product		615088	"""KIAA0652"", ""ATG13 autophagy related 13 homolog (S. cerevisiae)"""	KIAA0652		15169610, 18339812, 17204848	Standard	NM_001205120		Approved		uc001nda.3	O75143	OTTHUMG00000166538	ENST00000434074.1:c.398G>T	11.37:g.46671807G>T	ENSP00000400642:p.Arg133Met		Somatic				ATG13_ENST00000529655.1_Missense_Mutation_p.R133M|ATG13_ENST00000312040.4_Missense_Mutation_p.R133M|ATG13_ENST00000526508.1_Missense_Mutation_p.R133M|ATG13_ENST00000530500.1_Missense_Mutation_p.R54M|ATG13_ENST00000524625.1_Missense_Mutation_p.R133M|ATG13_ENST00000528494.1_Missense_Mutation_p.R133M|ATG13_ENST00000359513.4_Missense_Mutation_p.R133M|ATG13_ENST00000451945.1_Missense_Mutation_p.R133M	p.R133M	NM_001205120.1	NP_001192049.1	WXS	Illumina GAIIx	Phase_I	O75143	ATG13_HUMAN			6	1087	+			133					B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Missense_Mutation	SNP	ENST00000434074.1	37	c.398G>T	CCDS44582.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.356647	0.82243	.	.	ENSG00000175224	ENST00000395549;ENST00000434074;ENST00000312040;ENST00000451945;ENST00000529655;ENST00000530500;ENST00000526508;ENST00000524625;ENST00000359513;ENST00000528494;ENST00000526078	.	.	.	5.65	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.79088	0.4387	M	0.78344	2.41	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.998	T	0.82224	-0.0563	9	0.87932	D	0	-28.9799	14.5574	0.68109	0.0701:0.0:0.9299:0.0	.	54;133;133;133	B4DFI4;O75143;E9PQZ8;O75143-2	.;ATG13_HUMAN;.;.	M	133;133;133;133;133;54;133;133;133;133;133	.	ENSP00000310321:R133M	R	+	2	0	ATG13	46628383	1.000000	0.71417	0.925000	0.36789	0.931000	0.56810	9.827000	0.99397	1.402000	0.46780	-0.136000	0.14681	AGG		0.428	ATG13-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390300.2	NM_014741		6	78	6	78	---	---	---	---
KDM2A	22992	broad.mit.edu	37	11	66982827	66982827	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr11:66982827G>T	ENST00000529006.2	+	7	949	c.503G>T	c.(502-504)tGg>tTg	p.W168L	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Missense_Mutation_p.W168L	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	168	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						TTCATTGACTGGGTAGACAAC	0.418																																						ENST00000529006.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						c.(502-504)tGg>tTg		lysine (K)-specific demethylase 2A							89.0	83.0	85.0					11																	66982827		1910	4115	6025	SO:0001583	missense	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:66982827G>T	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.503G>T	11.37:g.66982827G>T	ENSP00000432786:p.Trp168Leu		Somatic				KDM2A_ENST00000398645.2_Missense_Mutation_p.W168L|KDM2A_ENST00000526258.1_3'UTR	p.W168L	NM_012308.2	NP_036440.1	WXS	Illumina GAIIx	Phase_I	Q9Y2K7	KDM2A_HUMAN			7	949	+			168			JmjC.		D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	ENST00000529006.2	37	c.503G>T	CCDS44657.1	.	.	.	.	.	.	.	.	.	.	G	33	5.212776	0.95069	.	.	ENSG00000173120	ENST00000398645;ENST00000529006	T;T	0.70045	-0.45;-0.45	5.76	5.76	0.90799	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	T	0.76828	0.4042	L	0.46947	1.48	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.70809	-0.4771	10	0.23891	T	0.37	-16.3968	18.9478	0.92628	0.0:0.0:1.0:0.0	.	168	Q9Y2K7	KDM2A_HUMAN	L	168	ENSP00000381640:W168L;ENSP00000432786:W168L	ENSP00000381640:W168L	W	+	2	0	KDM2A	66739403	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.848000	0.99507	2.726000	0.93360	0.655000	0.94253	TGG		0.418	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		4	49	4	49	---	---	---	---
SYTL2	54843	broad.mit.edu	37	11	85459457	85459457	+	Silent	SNP	A	A	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr11:85459457A>T	ENST00000528231.1	-	2	388	c.111T>A	c.(109-111)ccT>ccA	p.P37P	SYTL2_ENST00000316356.4_Silent_p.P37P|SYTL2_ENST00000389960.4_Silent_p.P37P|SYTL2_ENST00000527523.1_5'UTR|SYTL2_ENST00000524452.1_Silent_p.P37P	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	37	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.P37P(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TAATTTTTTCAGGCAAATGTC	0.393																																						ENST00000316356.4																			1	Substitution - coding silent(1)	p.P37P(1)	prostate(1)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(109-111)ccT>ccA		synaptotagmin-like 2							107.0	99.0	102.0					11																	85459457		2203	4299	6502	SO:0001819	synonymous_variant	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85459457A>T	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.111T>A	11.37:g.85459457A>T			Somatic				SYTL2_ENST00000527523.1_5'UTR|SYTL2_ENST00000524452.1_Silent_p.P37P|SYTL2_ENST00000528231.1_Silent_p.P37P|SYTL2_ENST00000389960.4_Silent_p.P37P	p.P37P			WXS	Illumina GAIIx	Phase_I	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	3	675	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	37			RabBD.		B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	ENST00000528231.1	37	c.111T>A	CCDS53688.1																																																																																				0.393	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		5	78	5	78	---	---	---	---
ARHGAP32	9743	broad.mit.edu	37	11	128839002	128839002	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr11:128839002G>T	ENST00000310343.9	-	22	6063	c.6064C>A	c.(6064-6066)Cag>Aag	p.Q2022K	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.Q1673K|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.Q1673K	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	2022	Interaction with FYN.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TTATCATACTGGGACACAACA	0.582																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(6064-6066)Cag>Aag		Rho GTPase activating protein 32							102.0	85.0	91.0					11																	128839002		2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128839002G>T	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.6064C>A	11.37:g.128839002G>T	ENSP00000310561:p.Gln2022Lys		Somatic				ARHGAP32_ENST00000527272.1_Missense_Mutation_p.Q1673K|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.Q1673K|ARHGAP32_ENST00000524655.1_3'UTR	p.Q2022K	NM_001142685.1	NP_001136157.1	WXS	Illumina GAIIx	Phase_I	A7KAX9	RHG32_HUMAN			22	6063	-			2022			Interaction with FYN.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.6064C>A	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384490	0.82792	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.20881	2.04;2.04;2.04	5.68	5.68	0.88126	.	0.061145	0.64402	D	0.000003	T	0.40372	0.1114	M	0.64997	1.995	0.49687	D	0.999811	D	0.60575	0.988	P	0.54759	0.76	T	0.14783	-1.0460	10	0.72032	D	0.01	.	19.8476	0.96716	0.0:0.0:1.0:0.0	.	2022	A7KAX9	RHG32_HUMAN	K	2022;1673;1673	ENSP00000310561:Q2022K;ENSP00000376425:Q1673K;ENSP00000432862:Q1673K	ENSP00000310561:Q2022K	Q	-	1	0	ARHGAP32	128344212	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.376000	0.97181	2.694000	0.91930	0.650000	0.86243	CAG		0.582	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		4	71	4	71	---	---	---	---
CEP290	80184	broad.mit.edu	37	12	88514920	88514920	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr12:88514920T>C	ENST00000552810.1	-	14	1556	c.1213A>G	c.(1213-1215)Act>Gct	p.T405A	CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Missense_Mutation_p.T405A	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	405					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)		p.T405A(2)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TTCATATGAGTCTGTTGAGAA	0.383																																						ENST00000552810.1																			2	Substitution - Missense(2)	p.T405A(2)	prostate(2)	breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						c.(1213-1215)Act>Gct		centrosomal protein 290kDa							89.0	80.0	83.0					12																	88514920		1820	4080	5900	SO:0001583	missense	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88514920T>C	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.1213A>G	12.37:g.88514920T>C	ENSP00000448012:p.Thr405Ala		Somatic				CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Missense_Mutation_p.T405A	p.T405A	NM_025114.3	NP_079390.3	WXS	Illumina GAIIx	Phase_I	O15078	CE290_HUMAN			14	1556	-			405					Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	c.1213A>G	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	T	10.13	1.264762	0.23136	.	.	ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998;ENST00000545139	T;T	0.63580	-0.04;-0.05	5.84	3.43	0.39272	.	0.428727	0.25711	N	0.028811	T	0.41719	0.1171	N	0.22421	0.69	0.80722	D	1	B;B	0.24920	0.114;0.114	B;B	0.24394	0.036;0.053	T	0.09975	-1.0650	10	0.13108	T	0.6	.	7.5783	0.27950	0.1267:0.0682:0.0:0.8051	.	405;405	Q05BJ6;O15078	.;CE290_HUMAN	A	405;405;405;307	ENSP00000448012:T405A;ENSP00000308021:T405A	ENSP00000308021:T405A	T	-	1	0	CEP290	87039051	1.000000	0.71417	0.911000	0.35937	0.254000	0.26022	3.678000	0.54627	0.447000	0.26695	0.482000	0.46254	ACT		0.383	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		3	43	3	43	---	---	---	---
ACACB	32	broad.mit.edu	37	12	109639448	109639448	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr12:109639448T>A	ENST00000338432.7	+	19	2974	c.2855T>A	c.(2854-2856)cTg>cAg	p.L952Q	ACACB_ENST00000377854.5_Missense_Mutation_p.L952Q|ACACB_ENST00000377848.3_Missense_Mutation_p.L952Q			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	952	Biotinyl-binding. {ECO:0000255|PROSITE- ProRule:PRU01066}.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.L952Q(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GGTGCCGTGCTGGAAGCAGGC	0.552																																						ENST00000338432.7																			1	Substitution - Missense(1)	p.L952Q(1)	prostate(1)	NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2854-2856)cTg>cAg		acetyl-CoA carboxylase beta	Biotin(DB00121)						134.0	109.0	118.0					12																	109639448		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109639448T>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.2855T>A	12.37:g.109639448T>A	ENSP00000341044:p.Leu952Gln		Somatic				ACACB_ENST00000377854.5_Missense_Mutation_p.L952Q|ACACB_ENST00000377848.3_Missense_Mutation_p.L952Q	p.L952Q			WXS	Illumina GAIIx	Phase_I	O00763	ACACB_HUMAN			19	2974	+			952			Biotinyl-binding.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.2855T>A	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.518310	0.85495	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027	T;T;T	0.60299	0.2;0.2;0.2	5.39	5.39	0.77823	Single hybrid motif (1);Biotin/lipoyl attachment (2);	0.000000	0.64402	D	0.000001	T	0.79299	0.4422	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83539	0.0095	10	0.87932	D	0	.	15.4307	0.75092	0.0:0.0:0.0:1.0	.	952	O00763	ACACB_HUMAN	Q	952;952;952;183	ENSP00000341044:L952Q;ENSP00000367079:L952Q;ENSP00000367085:L952Q	ENSP00000341044:L952Q	L	+	2	0	ACACB	108123831	1.000000	0.71417	0.998000	0.56505	0.785000	0.44390	7.946000	0.87746	2.044000	0.60594	0.459000	0.35465	CTG		0.552	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		7	79	7	79	---	---	---	---
TBX5	6910	broad.mit.edu	37	12	114793645	114793645	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr12:114793645G>A	ENST00000310346.4	-	9	1915	c.1249C>T	c.(1249-1251)Ccc>Tcc	p.P417S	TBX5_ENST00000349716.5_Missense_Mutation_p.P367S|TBX5_ENST00000405440.2_Missense_Mutation_p.P417S	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	417					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.P417S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CTGTCCATGGGCTGCACGGTG	0.657																																					NSCLC(152;1358 1980 4050 23898 40356)	ENST00000310346.4																			1	Substitution - Missense(1)	p.P417S(1)	prostate(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1249-1251)Ccc>Tcc		T-box 5							44.0	39.0	41.0					12																	114793645		2202	4300	6502	SO:0001583	missense	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114793645G>A	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1249C>T	12.37:g.114793645G>A	ENSP00000309913:p.Pro417Ser		Somatic				TBX5_ENST00000349716.5_Missense_Mutation_p.P367S|TBX5_ENST00000405440.2_Missense_Mutation_p.P417S	p.P417S	NM_000192.3	NP_000183.2	WXS	Illumina GAIIx	Phase_I	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	9	1915	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		417					A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	c.1249C>T	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.707842	0.48412	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440	T;T;T	0.48836	0.8;0.8;0.8	4.99	3.89	0.44902	.	0.180678	0.49305	D	0.000155	T	0.40347	0.1113	L	0.55103	1.725	0.80722	D	1	B	0.12630	0.006	B	0.15484	0.013	T	0.25328	-1.0135	10	0.10111	T	0.7	.	14.2394	0.65948	0.085:0.0:0.915:0.0	.	417	Q99593	TBX5_HUMAN	S	367;417;314;417	ENSP00000337723:P367S;ENSP00000309913:P417S;ENSP00000384152:P417S	ENSP00000309913:P417S	P	-	1	0	TBX5	113278028	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.598000	0.82745	2.321000	0.78463	0.655000	0.94253	CCC		0.657	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		11	46	11	46	---	---	---	---
TMEM132D	121256	broad.mit.edu	37	12	129563125	129563125	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr12:129563125A>G	ENST00000422113.2	-	8	2395	c.2069T>C	c.(2068-2070)aTc>aCc	p.I690T	TMEM132D_ENST00000389441.4_Missense_Mutation_p.I228T	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	690					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.I690T(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGTGGCAAAGATGGCCCTGTT	0.577																																						ENST00000422113.2																			1	Substitution - Missense(1)	p.I690T(1)	prostate(1)	NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(2068-2070)aTc>aCc		transmembrane protein 132D							128.0	112.0	117.0					12																	129563125		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129563125A>G	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2069T>C	12.37:g.129563125A>G	ENSP00000408581:p.Ile690Thr		Somatic				TMEM132D_ENST00000389441.4_Missense_Mutation_p.I228T	p.I690T	NM_133448.2	NP_597705.2	WXS	Illumina GAIIx	Phase_I	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	8	2395	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	690					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.2069T>C	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	A	17.35	3.367916	0.61513	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.20881	2.04;2.04	4.79	4.79	0.61399	.	0.211356	0.39274	N	0.001419	T	0.42653	0.1212	M	0.66560	2.04	0.49130	D	0.999759	D;D	0.63046	0.992;0.99	P;D	0.67382	0.813;0.951	T	0.28870	-1.0030	9	.	.	.	-24.5105	14.3335	0.66574	1.0:0.0:0.0:0.0	.	690;228	Q14C87;Q14C87-2	T132D_HUMAN;.	T	228;690	ENSP00000374092:I228T;ENSP00000408581:I690T	.	I	-	2	0	TMEM132D	128129078	1.000000	0.71417	0.931000	0.37212	0.388000	0.30384	7.238000	0.78173	1.774000	0.52232	0.460000	0.39030	ATC		0.577	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		5	109	5	109	---	---	---	---
ENOX1	55068	broad.mit.edu	37	13	43872565	43872565	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr13:43872565C>A	ENST00000261488.6	-	12	1940	c.1363G>T	c.(1363-1365)Gaa>Taa	p.E455*	ENOX1_ENST00000412891.1_Nonsense_Mutation_p.E455*	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	455					rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)	p.E455*(2)		breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		AAAAGCTGTTCTTTTTCTTGT	0.527																																						ENST00000261488.6																			2	Substitution - Nonsense(2)	p.E455*(2)	prostate(2)	breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34						c.(1363-1365)Gaa>Taa		ecto-NOX disulfide-thiol exchanger 1							180.0	152.0	162.0					13																	43872565		2203	4300	6503	SO:0001587	stop_gained	55068				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	g.chr13:43872565C>A	EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"""RNA binding motif (RRM) containing"""	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.1363G>T	13.37:g.43872565C>A	ENSP00000261488:p.Glu455*		Somatic				ENOX1_ENST00000412891.1_Nonsense_Mutation_p.E455*	p.E455*	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	WXS	Illumina GAIIx	Phase_I	Q8TC92	ENOX1_HUMAN		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)	12	1940	-		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)	455					A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Nonsense_Mutation	SNP	ENST00000261488.6	37	c.1363G>T	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	C	40	8.021535	0.98613	.	.	ENSG00000120658	ENST00000261488;ENST00000412891	.	.	.	5.5	5.5	0.81552	.	0.295390	0.35677	N	0.003059	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	-5.2031	19.3845	0.94551	0.0:1.0:0.0:0.0	.	.	.	.	X	455	.	ENSP00000261488:E455X	E	-	1	0	ENOX1	42770565	1.000000	0.71417	0.638000	0.29380	0.878000	0.50629	3.580000	0.53907	2.586000	0.87340	0.655000	0.94253	GAA		0.527	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993		38	103	38	103	---	---	---	---
TUBGCP3	10426	broad.mit.edu	37	13	113181286	113181286	+	Missense_Mutation	SNP	C	C	A	rs368850824		TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr13:113181286C>A	ENST00000261965.3	-	13	1711	c.1525G>T	c.(1525-1527)Gtg>Ttg	p.V509L	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.V509L|TUBGCP3_ENST00000462580.1_5'UTR	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	509					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.V509L(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GACTTGGTCACAGCTATCATC	0.423																																						ENST00000261965.3																			1	Substitution - Missense(1)	p.V509L(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25						c.(1525-1527)Gtg>Ttg		tubulin, gamma complex associated protein 3							202.0	157.0	172.0					13																	113181286		2203	4300	6503	SO:0001583	missense	10426				G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	g.chr13:113181286C>A	AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"""spindle pole body protein"""					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.1525G>T	13.37:g.113181286C>A	ENSP00000261965:p.Val509Leu		Somatic				TUBGCP3_ENST00000375669.3_Missense_Mutation_p.V509L|TUBGCP3_ENST00000462580.1_5'UTR	p.V509L	NM_006322.4	NP_006313.1	WXS	Illumina GAIIx	Phase_I	Q96CW5	GCP3_HUMAN			13	1711	-	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		509					O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP	ENST00000261965.3	37	c.1525G>T	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	C	8.395	0.840552	0.16891	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	T;T	0.07114	3.22;3.22	4.67	3.82	0.43975	.	0.081637	0.48767	D	0.000179	T	0.03783	0.0107	N	0.04297	-0.235	0.47308	D	0.999384	B;B;B	0.12630	0.006;0.001;0.001	B;B;B	0.09377	0.004;0.003;0.004	T	0.37407	-0.9707	10	0.09843	T	0.71	-15.6377	12.6376	0.56692	0.0:0.9186:0.0:0.0814	.	499;509;509	B4DYP7;Q96CW5-2;Q96CW5	.;.;GCP3_HUMAN	L	509	ENSP00000261965:V509L;ENSP00000364821:V509L	ENSP00000261965:V509L	V	-	1	0	TUBGCP3	112229287	1.000000	0.71417	0.968000	0.41197	0.377000	0.30045	7.064000	0.76721	0.966000	0.38159	0.196000	0.17591	GTG		0.423	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322		3	67	3	67	---	---	---	---
CEP128	145508	broad.mit.edu	37	14	81251838	81251838	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr14:81251838G>A	ENST00000555265.1	-	15	1987	c.1612C>T	c.(1612-1614)Caa>Taa	p.Q538*	CEP128_ENST00000281129.3_Nonsense_Mutation_p.Q538*			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	538						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TTCTCTATTTGTTGTAATGCT	0.353																																						ENST00000555265.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(1612-1614)Caa>Taa		centrosomal protein 128kDa							33.0	30.0	31.0					14																	81251838		2203	4295	6498	SO:0001587	stop_gained	145508					centriole|spindle pole		g.chr14:81251838G>A	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.1612C>T	14.37:g.81251838G>A	ENSP00000451162:p.Gln538*		Somatic				CEP128_ENST00000281129.3_Nonsense_Mutation_p.Q538*	p.Q538*			WXS	Illumina GAIIx	Phase_I	Q6ZU80	CE128_HUMAN			15	1987	-			538					B9EK52|Q86X97|Q96ML4	Nonsense_Mutation	SNP	ENST00000555265.1	37	c.1612C>T	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	G	40	8.266343	0.98735	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619	.	.	.	5.75	5.75	0.90469	.	0.071231	0.56097	D	0.000036	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	20.3028	0.98618	0.0:0.0:1.0:0.0	.	.	.	.	X	538	.	ENSP00000281129:Q538X	Q	-	1	0	CEP128	80321591	1.000000	0.71417	1.000000	0.80357	0.410000	0.31052	7.821000	0.86641	2.876000	0.98609	0.643000	0.83706	CAA		0.353	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		11	22	11	22	---	---	---	---
COMMD4	54939	broad.mit.edu	37	15	75631620	75631620	+	Missense_Mutation	SNP	T	T	C	rs373430411		TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr15:75631620T>C	ENST00000267935.8	+	6	516	c.317T>C	c.(316-318)cTg>cCg	p.L106P	COMMD4_ENST00000562789.1_Missense_Mutation_p.L112P|COMMD4_ENST00000564815.1_Missense_Mutation_p.L84P|COMMD4_ENST00000338995.6_Missense_Mutation_p.L106P|COMMD4_ENST00000567195.1_Intron	NM_017828.3	NP_060298.2	Q9H0A8	COMD4_HUMAN	COMM domain containing 4	106						cytoplasm (GO:0005737)		p.L106P(3)		breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						GCGGCCAGCCTGTGCCGCTGT	0.622																																						ENST00000267935.8																			3	Substitution - Missense(3)	p.L106P(3)	prostate(1)|lung(1)|kidney(1)	breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						c.(316-318)cTg>cCg		COMM domain containing 4		T	PRO/LEU	0,4394		0,0,2197	30.0	32.0	31.0		317	4.6	1.0	15		31	2,8586	2.2+/-6.3	0,2,4292	no	missense	COMMD4	NM_017828.3	98	0,2,6489	CC,CT,TT		0.0233,0.0,0.0154	possibly-damaging	106/200	75631620	2,12980	2197	4294	6491	SO:0001583	missense	54939					cytoplasm	protein binding	g.chr15:75631620T>C	AY542160	CCDS10277.1, CCDS66834.1, CCDS66835.1, CCDS73764.1	15q24.2	2012-09-20			ENSG00000140365	ENSG00000140365			26027	protein-coding gene	gene with protein product						15799966	Standard	XM_005254511		Approved	FLJ20452	uc002azy.3	Q9H0A8	OTTHUMG00000142823	ENST00000267935.8:c.317T>C	15.37:g.75631620T>C	ENSP00000267935:p.Leu106Pro		Somatic				COMMD4_ENST00000567195.1_Intron|COMMD4_ENST00000338995.6_Missense_Mutation_p.L106P|COMMD4_ENST00000564815.1_Missense_Mutation_p.L84P|COMMD4_ENST00000562789.1_Missense_Mutation_p.L112P	p.L106P	NM_017828.3	NP_060298.2	WXS	Illumina GAIIx	Phase_I	Q9H0A8	COMD4_HUMAN			6	516	+			106					B2RBN4|H3BUL2|Q7L637|Q9NX43	Missense_Mutation	SNP	ENST00000267935.8	37	c.317T>C	CCDS10277.1	.	.	.	.	.	.	.	.	.	.	T	17.10	3.302500	0.60195	0.0	2.33E-4	ENSG00000140365	ENST00000267935;ENST00000338995	T;T	0.15834	2.39;2.39	4.58	4.58	0.56647	.	0.000000	0.64402	D	0.000002	T	0.41488	0.1161	M	0.88450	2.955	0.80722	D	1	B;D	0.56035	0.21;0.974	B;P	0.56042	0.191;0.79	T	0.52087	-0.8622	10	0.66056	D	0.02	.	13.4655	0.61251	0.0:0.0:0.0:1.0	.	106;106	Q9H0A8-2;Q9H0A8	.;COMD4_HUMAN	P	106	ENSP00000267935:L106P;ENSP00000340867:L106P	ENSP00000267935:L106P	L	+	2	0	COMMD4	73418673	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.948000	0.63590	1.844000	0.53588	0.487000	0.48397	CTG		0.622	COMMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286414.1	NM_017828		3	45	3	45	---	---	---	---
AP3B2	8120	broad.mit.edu	37	15	83332552	83332552	+	Splice_Site	SNP	C	C	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr15:83332552C>A	ENST00000261722.3	-	19	2587		c.e19+1		RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Splice_Site|AP3B2_ENST00000535359.1_Splice_Site	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit						anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.?(2)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			AAGGCTCTCACTGTTTTCCTG	0.587																																						ENST00000261722.3																			2	Unknown(2)	p.?(2)	prostate(2)	breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41						c.e19+1		adaptor-related protein complex 3, beta 2 subunit							54.0	63.0	60.0					15																	83332552		2075	4215	6290	SO:0001630	splice_region_variant	8120				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	g.chr15:83332552C>A	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.2379+1G>T	15.37:g.83332552C>A			Somatic				AP3B2_ENST00000535359.1_Splice_Site|AP3B2_ENST00000535348.1_Splice_Site|RP11-752G15.3_ENST00000560650.1_RNA		NM_004644.3	NP_004635.2	WXS	Illumina GAIIx	Phase_I	Q13367	AP3B2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		19	2587	-								A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Splice_Site	SNP	ENST00000261722.3	37		CCDS45331.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.146545	0.57044	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2608	0.54649	0.0:0.9193:0.0:0.0807	.	.	.	.	.	-1	.	.	.	-	.	.	AP3B2	81129607	0.790000	0.28787	0.956000	0.39512	0.707000	0.40811	2.028000	0.41088	2.654000	0.90174	0.563000	0.77884	.		0.587	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1		Intron	3	36	3	36	---	---	---	---
GTF3C1	2975	broad.mit.edu	37	16	27500375	27500375	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr16:27500375G>T	ENST00000356183.4	-	21	3433	c.3418C>A	c.(3418-3420)Cag>Aag	p.Q1140K	GTF3C1_ENST00000561623.1_Missense_Mutation_p.Q1140K	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1140					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.Q1140K(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TTTTTGGCCTGGTTGATGATG	0.577																																						ENST00000356183.4																			1	Substitution - Missense(1)	p.Q1140K(1)	prostate(1)	breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(3418-3420)Cag>Aag		general transcription factor IIIC, polypeptide 1, alpha 220kDa							191.0	176.0	181.0					16																	27500375		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27500375G>T	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.3418C>A	16.37:g.27500375G>T	ENSP00000348510:p.Gln1140Lys		Somatic				GTF3C1_ENST00000561623.1_Missense_Mutation_p.Q1140K	p.Q1140K	NM_001520.3	NP_001511.2	WXS	Illumina GAIIx	Phase_I	Q12789	TF3C1_HUMAN			21	3433	-			1140					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.3418C>A	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	G	1.640	-0.516750	0.04200	.	.	ENSG00000077235	ENST00000356183	T	0.18657	2.2	4.65	2.29	0.28610	.	0.488967	0.23002	N	0.053066	T	0.03739	0.0106	N	0.00170	-1.935	0.22771	N	0.998756	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43458	-0.9390	10	0.02654	T	1	-8.2781	11.3929	0.49825	0.0:0.0:0.3385:0.6615	.	1140;1140	Q12789;Q12789-3	TF3C1_HUMAN;.	K	1140	ENSP00000348510:Q1140K	ENSP00000348510:Q1140K	Q	-	1	0	GTF3C1	27407876	1.000000	0.71417	0.961000	0.40146	0.880000	0.50808	1.465000	0.35299	0.223000	0.20920	-0.274000	0.10170	CAG		0.577	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		5	121	5	121	---	---	---	---
BRD7	29117	broad.mit.edu	37	16	50368807	50368807	+	Splice_Site	SNP	C	C	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr16:50368807C>A	ENST00000394688.3	-	7	862		c.e7-1		BRD7_ENST00000394689.2_Splice_Site			Q9NPI1	BRD7_HUMAN	bromodomain containing 7						cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.?(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				GAATTCTTTCCTAAACATATT	0.373																																						ENST00000394688.3																			1	Unknown(1)	p.?(1)	prostate(1)	autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22						c.e7-1		bromodomain containing 7							62.0	62.0	62.0					16																	50368807		2198	4300	6498	SO:0001630	splice_region_variant	29117				cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:50368807C>A	AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"""bromodomain-containing 7"""			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.703-1G>T	16.37:g.50368807C>A			Somatic				BRD7_ENST00000394689.2_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q9NPI1	BRD7_HUMAN			7	862	-		all_cancers(37;0.0127)						Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Splice_Site	SNP	ENST00000394688.3	37		CCDS10742.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182614	0.78677	.	.	ENSG00000166164	ENST00000394688;ENST00000394689	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7678	0.88483	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BRD7	48926308	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	6.808000	0.75206	2.797000	0.96272	0.655000	0.94253	.		0.373	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256874.3	NM_013263	Intron	4	57	4	57	---	---	---	---
BRD7	29117	broad.mit.edu	37	16	50402142	50402142	+	Silent	SNP	C	C	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr16:50402142C>A	ENST00000394688.3	-	2	276	c.117G>T	c.(115-117)acG>acT	p.T39T	BRD7_ENST00000394689.2_Silent_p.T39T|RP11-21B23.1_ENST00000568427.1_RNA|BRD7_ENST00000401491.3_5'UTR			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	39	Lys-rich.				cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.T39T(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				CCGAGCTGCCCGTGGAGAGTT	0.468																																						ENST00000394688.3																			1	Substitution - coding silent(1)	p.T39T(1)	lung(1)	autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22						c.(115-117)acG>acT		bromodomain containing 7							111.0	117.0	115.0					16																	50402142		2198	4300	6498	SO:0001819	synonymous_variant	29117				cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:50402142C>A	AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"""bromodomain-containing 7"""			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.117G>T	16.37:g.50402142C>A			Somatic				BRD7_ENST00000394689.2_Silent_p.T39T|BRD7_ENST00000401491.3_5'UTR	p.T39T			WXS	Illumina GAIIx	Phase_I	Q9NPI1	BRD7_HUMAN			2	276	-		all_cancers(37;0.0127)	39			Lys-rich.		Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Silent	SNP	ENST00000394688.3	37	c.117G>T	CCDS10742.1																																																																																				0.468	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256874.3	NM_013263		5	162	5	162	---	---	---	---
FAM96B	51647	broad.mit.edu	37	16	66969408	66969408	+	5'Flank	SNP	C	C	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr16:66969408C>A	ENST00000422424.2	-	0	0				CES2_ENST00000317091.4_Missense_Mutation_p.P21Q|CES2_ENST00000417689.1_Missense_Mutation_p.P21Q	NM_016062.3	NP_057146.1	Q9Y3D0	MIP18_HUMAN	family with sequence similarity 96, member B						chromosome segregation (GO:0007059)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)				kidney(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		CAGCGCACCCCGCTGACTCCC	0.662																																						ENST00000317091.4																			0				breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12						c.(61-63)cCg>cAg		carboxylesterase 2							75.0	86.0	82.0					16																	66969408		2200	4300	6500	SO:0001631	upstream_gene_variant	8824				catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:66969408C>A		CCDS45506.1	16q22.1	2014-01-16			ENSG00000166595	ENSG00000166595			24261	protein-coding gene	gene with protein product		614778				11042152, 10810093, 23891004	Standard	NM_016062		Approved	CGI-128	uc021tjy.2	Q9Y3D0	OTTHUMG00000175408		16.37:g.66969408C>A	Exception_encountered		Somatic				CES2_ENST00000417689.1_Missense_Mutation_p.P21Q	p.P21Q	NM_003869.5	NP_003860.2	WXS	Illumina GAIIx	Phase_I	O00748	EST2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	1	1046	+		Ovarian(137;0.0563)	0						Missense_Mutation	SNP	ENST00000422424.2	37	c.62C>A	CCDS45506.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.986716	0.53934	.	.	ENSG00000172831	ENST00000417689;ENST00000317091	T;T	0.66815	-0.22;-0.23	3.64	-4.63	0.03359	.	.	.	.	.	T	0.47710	0.1460	.	.	.	0.09310	N	1	B	0.17852	0.024	B	0.14578	0.011	T	0.39396	-0.9616	8	0.87932	D	0	.	3.9591	0.09403	0.2603:0.2408:0.0:0.4989	.	21	A8K367	.	Q	21	ENSP00000394452:P21Q;ENSP00000317842:P21Q	ENSP00000317842:P21Q	P	+	2	0	CES2	65526909	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.251000	0.08818	-0.961000	0.03609	-0.768000	0.03414	CCG		0.662	FAM96B-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429890.1	NM_016062		5	126	5	126	---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7680786	7680786	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr17:7680786C>G	ENST00000572933.1	+	33	6541	c.5081C>G	c.(5080-5082)tCa>tGa	p.S1694*	DNAH2_ENST00000389173.2_Nonsense_Mutation_p.S1694*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1694	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S1694*(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AATAAGTATTCAGAAGCCATC	0.507																																						ENST00000572933.1																			1	Substitution - Nonsense(1)	p.S1694*(1)	prostate(1)	NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(5080-5082)tCa>tGa		dynein, axonemal, heavy chain 2							261.0	259.0	260.0					17																	7680786		2203	4300	6503	SO:0001587	stop_gained	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7680786C>G	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.5081C>G	17.37:g.7680786C>G	ENSP00000458355:p.Ser1694*		Somatic				DNAH2_ENST00000389173.2_Nonsense_Mutation_p.S1694*	p.S1694*			WXS	Illumina GAIIx	Phase_I	Q9P225	DYH2_HUMAN			33	6541	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1694			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Nonsense_Mutation	SNP	ENST00000572933.1	37	c.5081C>G	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	45	11.874311	0.99612	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	.	.	.	5.51	5.51	0.81932	.	0.091941	0.47093	D	0.000247	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	18.1667	0.89731	0.0:1.0:0.0:0.0	.	.	.	.	X	1694	.	ENSP00000353818:S1694X	S	+	2	0	DNAH2	7621511	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.347000	0.59373	2.587000	0.87381	0.585000	0.79938	TCA		0.507	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		30	378	30	378	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11572560	11572560	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr17:11572560G>A	ENST00000262442.4	+	16	2979	c.2911G>A	c.(2911-2913)Ggc>Agc	p.G971S	DNAH9_ENST00000454412.2_Missense_Mutation_p.G971S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	971	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.G971S(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCCACAAAATGGCTCTCCTCA	0.542																																						ENST00000262442.4																			1	Substitution - Missense(1)	p.G971S(1)	prostate(1)	NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(2911-2913)Ggc>Agc		dynein, axonemal, heavy chain 9							92.0	87.0	89.0					17																	11572560		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11572560G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.2911G>A	17.37:g.11572560G>A	ENSP00000262442:p.Gly971Ser		Somatic				DNAH9_ENST00000454412.2_Missense_Mutation_p.G971S	p.G971S	NM_001372.3	NP_001363.2	WXS	Illumina GAIIx	Phase_I	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	16	2979	+		Breast(5;0.0122)|all_epithelial(5;0.131)				Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.2911G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	9.117	1.008130	0.19199	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.25250	1.85;1.81	5.6	0.739	0.18324	.	1.088490	0.06909	N	0.807363	T	0.20700	0.0498	L	0.48642	1.525	0.09310	N	0.999997	B	0.16396	0.017	B	0.11329	0.006	T	0.34428	-0.9829	10	0.16420	T	0.52	.	6.7713	0.23594	0.3604:0.1374:0.5022:0.0	.	971	Q9NYC9	DYH9_HUMAN	S	971	ENSP00000262442:G971S;ENSP00000414874:G971S	ENSP00000262442:G971S	G	+	1	0	DNAH9	11513285	0.000000	0.05858	0.207000	0.23584	0.473000	0.32948	0.449000	0.21744	0.313000	0.23062	0.655000	0.94253	GGC		0.542	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		5	125	5	125	---	---	---	---
CCDC144A	9720	broad.mit.edu	37	17	16594036	16594036	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr17:16594036G>T	ENST00000360524.8	+	1	398	c.322G>T	c.(322-324)Gac>Tac	p.D108Y	CCDC144A_ENST00000340621.5_Missense_Mutation_p.D108Y|CCDC144A_ENST00000443444.2_Missense_Mutation_p.D108Y|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000399273.1_Missense_Mutation_p.D108Y|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.D108Y|CCDC144A_ENST00000456009.1_Missense_Mutation_p.D108Y|RNU6-405P_ENST00000516637.1_RNA	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	108								p.D108Y(1)									CACTGGCGTGGACAAGAGGGA	0.657																																						ENST00000443444.2																			1	Substitution - Missense(1)	p.D108Y(1)	prostate(1)								c.(322-324)Gac>Tac		coiled-coil domain containing 144A							119.0	127.0	124.0					17																	16594036		2203	4300	6503	SO:0001583	missense	9720							g.chr17:16594036G>T	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.322G>T	17.37:g.16594036G>T	ENSP00000353717:p.Asp108Tyr		Somatic				CCDC144A_ENST00000456009.1_Missense_Mutation_p.D108Y|CCDC144A_ENST00000360524.8_Missense_Mutation_p.D108Y|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.D108Y|CCDC144A_ENST00000340621.5_Missense_Mutation_p.D108Y|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000399273.1_Missense_Mutation_p.D108Y	p.D108Y			WXS	Illumina GAIIx	Phase_I	A2RUR9	C144A_HUMAN			1	462	+			108					O60311|Q6ZU57	Missense_Mutation	SNP	ENST00000360524.8	37	c.322G>T	CCDS45621.1	.	.	.	.	.	.	.	.	.	.	.	9.663	1.144541	0.21288	.	.	ENSG00000170160	ENST00000420937;ENST00000340621;ENST00000399273;ENST00000436374;ENST00000399264;ENST00000443444;ENST00000448331;ENST00000360524;ENST00000456009;ENST00000360495	T;T;T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14;2.14;2.14	0.542	-1.08	0.09936	.	.	.	.	.	T	0.07143	0.0181	N	0.08118	0	0.09310	N	1	P	0.41214	0.742	B	0.29440	0.102	T	0.22208	-1.0223	8	0.87932	D	0	.	.	.	.	.	108	A2RUR9	C144A_HUMAN	Y	108	ENSP00000344740:D108Y;ENSP00000382215:D108Y;ENSP00000439262:D108Y;ENSP00000440655:D108Y;ENSP00000353717:D108Y;ENSP00000394201:D108Y;ENSP00000353685:D108Y	ENSP00000344740:D108Y	D	+	1	0	CCDC144A	16534761	0.825000	0.29262	0.005000	0.12908	0.002000	0.02628	-0.990000	0.03732	-0.396000	0.07703	-0.745000	0.03516	GAC		0.657	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			27	245	27	245	---	---	---	---
FLII	2314	broad.mit.edu	37	17	18151872	18151872	+	Missense_Mutation	SNP	G	G	C	rs542815509		TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr17:18151872G>C	ENST00000327031.4	-	18	2407	c.2182C>G	c.(2182-2184)Ctg>Gtg	p.L728V	FLII_ENST00000545457.2_Missense_Mutation_p.L673V|FLII_ENST00000379450.4_Missense_Mutation_p.L642V|FLII_ENST00000579294.1_Missense_Mutation_p.L717V|FLII_ENST00000578558.1_Intron	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	728	Interaction with ACTL6A.				multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)	p.L728V(1)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					ACCTTGTACAGCTTGGGCTGC	0.622											OREG0024225	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000327031.4																			1	Substitution - Missense(1)	p.L728V(1)	prostate(1)	central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(2182-2184)Ctg>Gtg		flightless I homolog (Drosophila)							44.0	47.0	46.0					17																	18151872		2203	4300	6503	SO:0001583	missense	2314				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	g.chr17:18151872G>C	U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.2182C>G	17.37:g.18151872G>C	ENSP00000324573:p.Leu728Val		Somatic	OREG0024225	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	723	FLII_ENST00000579294.1_Missense_Mutation_p.L717V|FLII_ENST00000545457.2_Missense_Mutation_p.L673V|FLII_ENST00000578558.1_Intron|FLII_ENST00000379450.4_Missense_Mutation_p.L642V	p.L728V	NM_002018.3	NP_002009.1	WXS	Illumina GAIIx	Phase_I	Q13045	FLII_HUMAN			18	2407	-	all_neural(463;0.228)		728			Interaction with ACTL6A.		B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	ENST00000327031.4	37	c.2182C>G	CCDS11192.1	.	.	.	.	.	.	.	.	.	.	G	31	5.072199	0.93950	.	.	ENSG00000177731	ENST00000327031;ENST00000379450	T;T	0.21543	2.0;2.0	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.46983	0.1421	M	0.62088	1.915	0.80722	D	1	D;D;D;D	0.76494	0.997;0.997;0.999;0.997	D;D;D;D	0.78314	0.991;0.991;0.986;0.978	T	0.40905	-0.9538	10	0.87932	D	0	-12.729	19.4761	0.94989	0.0:0.0:1.0:0.0	.	642;642;728;697	E7EPM0;B4DIL0;Q13045;B4DIX0	.;.;FLII_HUMAN;.	V	728;642	ENSP00000324573:L728V;ENSP00000368763:L642V	ENSP00000324573:L728V	L	-	1	2	FLII	18092597	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.373000	0.97168	2.618000	0.88619	0.462000	0.41574	CTG		0.622	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		7	61	7	61	---	---	---	---
ABCA5	23461	broad.mit.edu	37	17	67252297	67252297	+	Splice_Site	SNP	C	C	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr17:67252297C>T	ENST00000392676.3	-	29	3923		c.e29+1		ABCA5_ENST00000588877.1_Splice_Site|ABCA5_ENST00000392677.2_Splice_Site			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5						cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	GAATAAATTACCTCCTCACAA	0.353																																						ENST00000392676.3																			1	Unknown(1)	p.?(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.e29+1		ATP-binding cassette, sub-family A (ABC1), member 5							153.0	154.0	154.0					17																	67252297		2203	4300	6503	SO:0001630	splice_region_variant	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67252297C>T	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.3858+1G>A	17.37:g.67252297C>T			Somatic				ABCA5_ENST00000392677.2_Splice_Site|ABCA5_ENST00000588877.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q8WWZ7	ABCA5_HUMAN			29	3923	-	Breast(10;3.72e-11)							Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Splice_Site	SNP	ENST00000392676.3	37		CCDS11685.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.823876	0.71143	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8552	0.96755	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCA5	64763892	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	6.748000	0.74877	2.861000	0.98227	0.655000	0.94253	.		0.353	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672	Intron	7	134	7	134	---	---	---	---
MAP2K6	5608	broad.mit.edu	37	17	67513026	67513026	+	Silent	SNP	C	C	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr17:67513026C>T	ENST00000590474.1	+	3	401	c.114C>T	c.(112-114)tgC>tgT	p.C38C	MAP2K6_ENST00000589647.1_5'UTR	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	38					activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cell cycle arrest (GO:0007050)|cellular response to sorbitol (GO:0072709)|DNA damage induced protein phosphorylation (GO:0006975)|innate immune response (GO:0045087)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to ischemia (GO:0002931)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.C38C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					CCAAGGCTTGCATTTCTATTG	0.363																																						ENST00000590474.1																			1	Substitution - coding silent(1)	p.C38C(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20						c.(112-114)tgC>tgT		mitogen-activated protein kinase kinase 6							156.0	145.0	149.0					17																	67513026		2203	4300	6503	SO:0001819	synonymous_variant	5608				activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:67513026C>T	U39064	CCDS11686.1	17q	2011-06-09						"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6846	protein-coding gene	gene with protein product	"""protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6)"""	601254		PRKMK6		8621675	Standard	XM_005257515		Approved	MEK6, MKK6, SAPKK3, MAPKK6	uc002jij.3	P52564		ENST00000590474.1:c.114C>T	17.37:g.67513026C>T			Somatic				MAP2K6_ENST00000589647.1_5'UTR	p.C38C	NM_002758.3	NP_002749.2	WXS	Illumina GAIIx	Phase_I	P52564	MP2K6_HUMAN			3	401	+	Breast(10;6.05e-10)		38						Silent	SNP	ENST00000590474.1	37	c.114C>T	CCDS11686.1																																																																																				0.363	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450689.1	NM_002758		5	106	5	106	---	---	---	---
DOT1L	84444	broad.mit.edu	37	19	2216565	2216565	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr19:2216565C>A	ENST00000398665.3	+	20	2245	c.2209C>A	c.(2209-2211)Cag>Aag	p.Q737K	AC004490.1_ENST00000585593.1_RNA|DOT1L_ENST00000608122.1_3'UTR	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	737					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAACACGCCCCAGTACCTGGC	0.672																																						ENST00000398665.3																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42						c.(2209-2211)Cag>Aag		DOT1-like histone H3K79 methyltransferase							39.0	46.0	44.0					19																	2216565		2058	4194	6252	SO:0001583	missense	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2216565C>A	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.2209C>A	19.37:g.2216565C>A	ENSP00000381657:p.Gln737Lys		Somatic				DOT1L_ENST00000608122.1_3'UTR	p.Q737K	NM_032482.2	NP_115871.1	WXS	Illumina GAIIx	Phase_I	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	20	2245	+		Hepatocellular(1079;0.137)	737					O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	c.2209C>A	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.013745	0.75161	.	.	ENSG00000104885	ENST00000398665;ENST00000221482	T	0.24151	1.87	5.21	5.21	0.72293	.	0.141125	0.51477	D	0.000089	T	0.33614	0.0869	M	0.62723	1.935	0.39672	D	0.970771	P;P	0.47762	0.9;0.519	P;B	0.44860	0.462;0.195	T	0.30504	-0.9976	10	0.87932	D	0	-32.7438	15.481	0.75528	0.0:1.0:0.0:0.0	.	737;737	Q8TEK3;Q8TEK3-2	DOT1L_HUMAN;.	K	737	ENSP00000381657:Q737K	ENSP00000221482:Q737K	Q	+	1	0	DOT1L	2167565	1.000000	0.71417	0.998000	0.56505	0.879000	0.50718	6.889000	0.75627	2.437000	0.82529	0.655000	0.94253	CAG		0.672	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		4	76	4	76	---	---	---	---
TMEM143	55260	broad.mit.edu	37	19	48836662	48836662	+	Silent	SNP	C	C	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr19:48836662C>A	ENST00000293261.3	-	8	1510	c.1194G>T	c.(1192-1194)gtG>gtT	p.V398V	TMEM143_ENST00000436660.2_Silent_p.V333V|TMEM143_ENST00000541566.1_Silent_p.V288V|TMEM143_ENST00000435956.3_Silent_p.V363V|TMEM143_ENST00000377431.2_Silent_p.V298V	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	398					hematopoietic progenitor cell differentiation (GO:0002244)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		GCCAGTTCTCCACCTCCGACC	0.622																																						ENST00000293261.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14						c.(1192-1194)gtG>gtT		transmembrane protein 143							53.0	51.0	51.0					19																	48836662		2203	4300	6503	SO:0001819	synonymous_variant	55260					integral to membrane|mitochondrion		g.chr19:48836662C>A	AK129801	CCDS12716.1	19q13.32	2008-02-05				ENSG00000161558			25603	protein-coding gene	gene with protein product						12975309	Standard	NM_018273		Approved	FLJ10922	uc002pix.1	Q96AN5		ENST00000293261.3:c.1194G>T	19.37:g.48836662C>A			Somatic				TMEM143_ENST00000377431.2_Silent_p.V298V|TMEM143_ENST00000435956.3_Silent_p.V363V|TMEM143_ENST00000436660.2_Silent_p.V333V|TMEM143_ENST00000541566.1_Silent_p.V288V	p.V398V	NM_018273.2	NP_060743.2	WXS	Illumina GAIIx	Phase_I	Q96AN5	TM143_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)	8	1510	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)	398					A8K656|Q6UXY4|Q9NV49	Silent	SNP	ENST00000293261.3	37	c.1194G>T	CCDS12716.1																																																																																				0.622	TMEM143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465622.1	NM_018273		4	82	4	82	---	---	---	---
HSPBP1	23640	broad.mit.edu	37	19	55789207	55789207	+	Missense_Mutation	SNP	T	T	C	rs535068399		TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr19:55789207T>C	ENST00000255631.5	-	4	528	c.218A>G	c.(217-219)cAg>cGg	p.Q73R	HSPBP1_ENST00000433386.2_Missense_Mutation_p.Q73R|HSPBP1_ENST00000376343.3_Missense_Mutation_p.Q73R|HSPBP1_ENST00000587922.1_Missense_Mutation_p.Q73R	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	76					negative regulation of catalytic activity (GO:0043086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)		enzyme inhibitor activity (GO:0004857)	p.Q73R(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CTGCAGCCACTGACGCCTCTG	0.577													T|||	1	0.000199681	0.0008	0.0	5008	,	,		18536	0.0		0.0	False		,,,				2504	0.0					ENST00000255631.5																			1	Substitution - Missense(1)	p.Q73R(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8						c.(217-219)cAg>cGg		HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1							15.0	14.0	15.0					19																	55789207		2196	4285	6481	SO:0001583	missense	23640				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding	g.chr19:55789207T>C		CCDS33111.1	19q13.42	2008-12-16			ENSG00000133265	ENSG00000133265			24989	protein-coding gene	gene with protein product	"""hsp70 interacting protein"", ""Hsp70 binding protein 1"""	612939				10786638, 9830037	Standard	NM_001130106		Approved	HspBP1, FES1	uc002qkd.3	Q9NZL4		ENST00000255631.5:c.218A>G	19.37:g.55789207T>C	ENSP00000255631:p.Gln73Arg		Somatic				HSPBP1_ENST00000376343.3_Missense_Mutation_p.Q73R|HSPBP1_ENST00000587922.1_Missense_Mutation_p.Q73R|HSPBP1_ENST00000433386.2_Missense_Mutation_p.Q73R	p.Q73R	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	WXS	Illumina GAIIx	Phase_I	Q9NZL4	HPBP1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	4	528	-			76					B3KQP0|B4DG11|O95351|Q6ZNU5	Missense_Mutation	SNP	ENST00000255631.5	37	c.218A>G	CCDS33111.1	.	.	.	.	.	.	.	.	.	.	T	11.65	1.700636	0.30142	.	.	ENSG00000133265	ENST00000433386;ENST00000255631;ENST00000376343	T;T;T	0.38401	1.14;1.14;1.14	4.53	4.53	0.55603	.	0.444987	0.24016	N	0.042332	T	0.29491	0.0735	N	0.10874	0.06	0.32634	N	0.521551	D;P;P;D	0.57899	0.981;0.952;0.952;0.981	P;P;P;P	0.53593	0.73;0.647;0.647;0.73	T	0.19549	-1.0302	10	0.18276	T	0.48	-6.7671	13.2817	0.60219	0.0:0.0:0.0:1.0	.	73;76;76;119	C9JNI7;Q9NZL4-2;Q9NZL4;B4DG11	.;.;HPBP1_HUMAN;.	R	73	ENSP00000398244:Q73R;ENSP00000255631:Q73R;ENSP00000365521:Q73R	ENSP00000255631:Q73R	Q	-	2	0	HSPBP1	60481019	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	3.400000	0.52594	2.046000	0.60703	0.533000	0.62120	CAG		0.577	HSPBP1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452670.1	NM_012267		7	21	7	21	---	---	---	---
CTSA	5476	broad.mit.edu	37	20	44520659	44520659	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr20:44520659C>A	ENST00000372459.2	+	2	492	c.299C>A	c.(298-300)cCc>cAc	p.P100H	NEURL2_ENST00000372518.4_5'Flank|CTSA_ENST00000354880.5_Missense_Mutation_p.P118H|CTSA_ENST00000191018.5_Missense_Mutation_p.P100H|CTSA_ENST00000372484.3_Missense_Mutation_p.P118H|RP3-337O18.9_ENST00000607703.1_RNA			P10619	PPGB_HUMAN	cathepsin A	100					glycosphingolipid metabolic process (GO:0006687)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|enzyme activator activity (GO:0008047)|serine-type carboxypeptidase activity (GO:0004185)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				GAGCATGGCCCCTTCCTGGTG	0.562											OREG0025986	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000372484.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(352-354)cCc>cAc		cathepsin A							31.0	35.0	34.0					20																	44520659		2203	4300	6503	SO:0001583	missense	5476				intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity	g.chr20:44520659C>A	M22960	CCDS13385.2, CCDS46609.1, CCDS54467.1	20q13.12	2012-02-10	2006-12-05	2006-12-05	ENSG00000064601	ENSG00000064601	3.4.16.5	"""Cathepsins"""	9251	protein-coding gene	gene with protein product	"""carboxypeptidase C"", ""lysosomal protective protein"", ""carboxypeptidase-L"", ""carboxypeptidase Y-like kininase"", ""deamidase"", ""lysosomal carboxypeptidase A"", ""urinary kininase"""	613111	"""protective protein for beta-galactosidase (galactosialidosis)"""	GSL, PPGB		2071143	Standard	NM_000308		Approved		uc002xqh.3	P10619	OTTHUMG00000033078	ENST00000372459.2:c.299C>A	20.37:g.44520659C>A	ENSP00000361537:p.Pro100His		Somatic	OREG0025986	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	924	CTSA_ENST00000354880.5_Missense_Mutation_p.P118H|CTSA_ENST00000191018.5_Missense_Mutation_p.P100H|CTSA_ENST00000372459.2_Missense_Mutation_p.P100H	p.P118H	NM_000308.2|NM_001127695.1	NP_000299.2|NP_001121167.1	WXS	Illumina GAIIx	Phase_I	P10619	PPGB_HUMAN			3	635	+		Myeloproliferative disorder(115;0.0122)	100					B2R798|Q561W6|Q5JZH1|Q96KJ2|Q9BR08|Q9BW68	Missense_Mutation	SNP	ENST00000372459.2	37	c.353C>A	CCDS46609.1	.	.	.	.	.	.	.	.	.	.	C	35	5.445972	0.96187	.	.	ENSG00000064601	ENST00000354880;ENST00000372484;ENST00000191018;ENST00000419493;ENST00000372459	D;D;D;D;D	0.99226	-5.59;-5.59;-5.59;-5.59;-5.59	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.99739	0.9897	H	0.99347	4.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96918	0.9672	10	0.87932	D	0	-0.1224	18.4903	0.90844	0.0:1.0:0.0:0.0	.	117;100;117	B4E324;P10619;Q59EV6	.;PPGB_HUMAN;.	H	118;118;100;100;100	ENSP00000346952:P118H;ENSP00000361562:P118H;ENSP00000191018:P100H;ENSP00000408533:P100H;ENSP00000361537:P100H	ENSP00000191018:P100H	P	+	2	0	CTSA	43954066	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.673000	0.83973	2.465000	0.83290	0.555000	0.69702	CCC		0.562	CTSA-012	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471297.2	NM_000308		4	47	4	47	---	---	---	---
KRTAP10-4	386672	broad.mit.edu	37	21	45993895	45993895	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr21:45993895C>T	ENST00000400374.3	+	1	290	c.260C>T	c.(259-261)cCc>cTc	p.P87L	TSPEAR_ENST00000397916.1_5'Flank|TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	87	36 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.P87L(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						TCCTGCACGCCCTCGTGCTGC	0.682																																						ENST00000400374.3																			1	Substitution - Missense(1)	p.P87L(1)	prostate(1)	NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						c.(259-261)cCc>cTc		keratin associated protein 10-4							12.0	19.0	17.0					21																	45993895		1997	4090	6087	SO:0001583	missense	386672					keratin filament		g.chr21:45993895C>T	AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"""Keratin associated proteins"""	20521	protein-coding gene	gene with protein product			"""keratin associated protein 18-4"""	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.260C>T	21.37:g.45993895C>T	ENSP00000383225:p.Pro87Leu		Somatic				TSPEAR_ENST00000323084.4_Intron	p.P87L	NM_198687.1	NP_941960.1	WXS	Illumina GAIIx	Phase_I	P60372	KR104_HUMAN			1	290	+			87			36 X 5 AA repeats of C-C-X(3).		Q08AS0	Missense_Mutation	SNP	ENST00000400374.3	37	c.260C>T	CCDS42957.1	.	.	.	.	.	.	.	.	.	.	N	11.14	1.551204	0.27739	.	.	ENSG00000215454	ENST00000400374;ENST00000334871	T	0.01025	5.43	3.55	3.55	0.40652	.	.	.	.	.	T	0.01940	0.0061	M	0.82517	2.595	0.09310	N	1	B	0.26081	0.141	B	0.23018	0.043	T	0.27806	-1.0063	9	0.87932	D	0	.	7.2328	0.26053	0.0:0.8692:0.0:0.1308	.	87	P60372	KR104_HUMAN	L	87;76	ENSP00000383225:P87L	ENSP00000333987:P76L	P	+	2	0	KRTAP10-4	44818323	0.231000	0.23751	0.033000	0.17914	0.719000	0.41307	2.079000	0.41577	1.689000	0.51079	0.479000	0.44913	CCC		0.682	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	NM_198687		16	85	16	85	---	---	---	---
ARSF	416	broad.mit.edu	37	X	3002395	3002395	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chrX:3002395G>T	ENST00000381127.1	+	6	739	c.518G>T	c.(517-519)tGc>tTc	p.C173F	ARSF_ENST00000359361.2_Missense_Mutation_p.C173F|ARSF_ENST00000537104.1_Missense_Mutation_p.C173F	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	173					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.C173F(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTTGACAGCTGCTGGCCGGAC	0.527																																						ENST00000381127.1																			1	Substitution - Missense(1)	p.C173F(1)	prostate(1)	NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38						c.(517-519)tGc>tTc		arylsulfatase F							142.0	107.0	119.0					X																	3002395		2203	4300	6503	SO:0001583	missense	416					extracellular region	arylsulfatase activity|metal ion binding	g.chrX:3002395G>T	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.518G>T	X.37:g.3002395G>T	ENSP00000370519:p.Cys173Phe		Somatic				ARSF_ENST00000359361.2_Missense_Mutation_p.C173F|ARSF_ENST00000537104.1_Missense_Mutation_p.C173F	p.C173F	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	WXS	Illumina GAIIx	Phase_I	P54793	ARSF_HUMAN			6	739	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	173					Q8TCC5	Missense_Mutation	SNP	ENST00000381127.1	37	c.518G>T	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.167534	0.38315	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.93307	-3.2;-3.2;-3.2	3.44	3.44	0.39384	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	U	0.000000	D	0.96231	0.8771	M	0.81341	2.54	0.58432	D	0.999999	D	0.64830	0.994	D	0.75020	0.985	D	0.96146	0.9104	10	0.51188	T	0.08	.	14.2993	0.66336	0.0:0.0:1.0:0.0	.	173	P54793	ARSF_HUMAN	F	173	ENSP00000370519:C173F;ENSP00000445594:C173F;ENSP00000352319:C173F	ENSP00000352319:C173F	C	+	2	0	ARSF	3012395	1.000000	0.71417	0.041000	0.18516	0.113000	0.19764	7.933000	0.87642	1.331000	0.45412	0.540000	0.68198	TGC		0.527	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			6	50	6	50	---	---	---	---
OR5H14	403273	broad.mit.edu	37	3	97868429	97868429	+	Frame_Shift_Del	DEL	C	C	-			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr3:97868429delC	ENST00000437310.1	+	1	260	c.200delC	c.(199-201)gctfs	p.A67fs	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGGAATTTAGCTTTTGTGGAT	0.398																																						ENST00000437310.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(199-201)gctfs		olfactory receptor, family 5, subfamily H, member 14							312.0	315.0	314.0					3																	97868429		2203	4300	6503	SO:0001589	frameshift_variant	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97868429delC		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"""GPCR / Class A : Olfactory receptors"""	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.200delC	3.37:g.97868429delC	ENSP00000401706:p.Ala67fs		Somatic					p.A67fs	NM_001005514.1	NP_001005514.1	WXS	Illumina GAIIx	Phase_I	A6NHG9	O5H14_HUMAN			1	260	+			67					B9EH15	Frame_Shift_Del	DEL	ENST00000437310.1	37	c.200delC	CCDS33798.1																																																																																				0.398	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			10	296	10	296	---	---	---	---
MTUS1	57509	broad.mit.edu	37	8	17613213	17613215	+	In_Frame_Del	DEL	GGT	GGT	-	rs368852799		TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr8:17613213_17613215delGGT	ENST00000262102.6	-	2	326_328	c.102_104delACC	c.(100-105)ccacct>cct	p.34_35PP>P	MTUS1_ENST00000381869.3_In_Frame_Del_p.34_35PP>P|MTUS1_ENST00000381862.3_In_Frame_Del_p.34_35PP>P|MTUS1_ENST00000519263.1_In_Frame_Del_p.34_35PP>P	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	34					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GTTTTGTGTAGGTGGTGATTTCG	0.399																																						ENST00000381869.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36						c.(100-105)ccacct>cct		microtubule associated tumor suppressor 1																																				SO:0001651	inframe_deletion	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17613213_17613215delGGT	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.102_104delACC	8.37:g.17613216_17613218delGGT	ENSP00000262102:p.Pro35del		Somatic				MTUS1_ENST00000262102.6_In_Frame_Del_p.34_35PP>P|MTUS1_ENST00000381862.3_In_Frame_Del_p.34_35PP>P|MTUS1_ENST00000519263.1_In_Frame_Del_p.34_35PP>P	p.34_35PP>P	NM_001001925.2	NP_001001925.1	WXS	Illumina GAIIx	Phase_I	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	2	575_577	-			34					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	In_Frame_Del	DEL	ENST00000262102.6	37	c.102_104delACC	CCDS43717.1																																																																																				0.399	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		10	158	10	158	---	---	---	---
HEXIM1	10614	broad.mit.edu	37	17	43227525	43227526	+	In_Frame_Ins	INS	-	-	GGAGCT			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr17:43227525_43227526insGGAGCT	ENST00000332499.2	+	1	2842_2843	c.968_969insGGAGCT	c.(967-972)cgggag>cgGGAGCTggag	p.328_329insLE	AC002117.1_ENST00000452741.1_RNA|AC002117.1_ENST00000589950.1_RNA	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	328	Required for inhibition of ESR1-dependent transcription.				heart development (GO:0007507)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCGCGTGTGCGGGAGCTGGAGC	0.668																																						ENST00000332499.2																			0				breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(967-972)cgggag>cgGGAGCTggag		hexamethylene bis-acetamide inducible 1																																				SO:0001652	inframe_insertion	10614				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding	g.chr17:43227525_43227526insGGAGCT	AB021179	CCDS11495.1	17q21.31	2006-03-28				ENSG00000186834			24953	protein-coding gene	gene with protein product		607328				12119119, 12832472	Standard	NM_006460		Approved	CLP-1, HIS1, MAQ1, EDG1	uc002iig.3	O94992		ENST00000332499.2:c.981_986dupGGAGCT	17.37:g.43227526_43227531dupGGAGCT	ENSP00000328773:p.Leu327_Glu328dup		Somatic					p.328_329insLE	NM_006460.2	NP_006451.1	WXS	Illumina GAIIx	Phase_I	O94992	HEXI1_HUMAN			1	2842_2843	+			328			Required for inhibition of ESR1-dependent transcription.		B2R8Y5	In_Frame_Ins	INS	ENST00000332499.2	37	c.968_969insGGAGCT	CCDS11495.1																																																																																				0.668	HEXIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449821.2	NM_006460		17	112	17	112	---	---	---	---
CLASRP	11129	broad.mit.edu	37	19	45567373	45567375	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr19:45567373_45567375delGAG	ENST00000221455.3	+	12	1107_1109	c.1009_1011delGAG	c.(1009-1011)gagdel	p.E338del	CLASRP_ENST00000391953.4_In_Frame_Del_p.E276del|CLASRP_ENST00000544944.2_In_Frame_Del_p.E338del	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	338					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						GGGCAGCGATGAGGAGGCAGCCG	0.704																																						ENST00000544944.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						c.(1009-1011)gagdel		CLK4-associating serine/arginine rich protein																																				SO:0001651	inframe_deletion	11129				mRNA processing|RNA splicing	nucleus		g.chr19:45567373_45567375delGAG	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.1009_1011delGAG	19.37:g.45567376_45567378delGAG	ENSP00000221455:p.Glu338del		Somatic				CLASRP_ENST00000391953.4_In_Frame_Del_p.E276del|CLASRP_ENST00000221455.3_In_Frame_Del_p.E338del	p.E338del			WXS	Illumina GAIIx	Phase_I	Q8N2M8	CLASR_HUMAN			11	1701_1703	+			338					B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	In_Frame_Del	DEL	ENST00000221455.3	37	c.1009_1011delGAG	CCDS12652.2																																																																																				0.704	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		7	35	7	35	---	---	---	---
