#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PTPRG	5793	broad.mit.edu	37	3	62188855	62188855	+	Silent	SNP	G	G	A			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr3:62188855G>A	ENST00000474889.1	+	12	1763	c.1386G>A	c.(1384-1386)gcG>gcA	p.A462A	PTPRG_ENST00000295874.10_Silent_p.A462A	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	462					brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		AGCCCACAGCGTCTCCTGCCT	0.547																																						ENST00000474889.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(1384-1386)gcG>gcA		protein tyrosine phosphatase, receptor type, G							69.0	77.0	74.0					3																	62188855		2203	4300	6503	SO:0001819	synonymous_variant	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62188855G>A	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.1386G>A	3.37:g.62188855G>A						PTPRG_ENST00000295874.10_Silent_p.A462A	p.A462A	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	12	1763	+			462					B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Silent	SNP	ENST00000474889.1	37	c.1386G>A	CCDS2895.1																																																																																				0.547	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		33	62	0	0	0	1	0	33	62				
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																0							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		6	158	0	0	0	1	0	6	158				
COPB2	9276	broad.mit.edu	37	3	139078198	139078198	+	Silent	SNP	A	A	G			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr3:139078198A>G	ENST00000333188.5	-	18	2398	c.2217T>C	c.(2215-2217)gaT>gaC	p.D739D	COPB2_ENST00000507777.1_Silent_p.D710D	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	739					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						CTAGGCAGGCATCAACCCTAA	0.393																																						ENST00000333188.5																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(2215-2217)gaT>gaC		coatomer protein complex, subunit beta 2 (beta prime)							70.0	74.0	73.0					3																	139078198		2203	4300	6503	SO:0001819	synonymous_variant	9276				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:139078198A>G	BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.2217T>C	3.37:g.139078198A>G						COPB2_ENST00000507777.1_Silent_p.D710D	p.D739D	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN			18	2398	-			739					B4DZI8	Silent	SNP	ENST00000333188.5	37	c.2217T>C	CCDS3108.1																																																																																				0.393	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766		29	37	0	0	0	1	0	29	37				
PIK3CA	5290	broad.mit.edu	37	3	178952007	178952007	+	Missense_Mutation	SNP	A	A	G	rs121913288		TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr3:178952007A>G	ENST00000263967.3	+	21	3219	c.3062A>G	c.(3061-3063)tAc>tGc	p.Y1021C	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1021	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		Y -> C (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.|Y -> H (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|Y -> N (found in a glioblastoma multiforme sample; unknown pathological significance). {ECO:0000269|PubMed:15289301}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.Y1021C(23)|p.Y1021F(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GACATTGCATACATTCGAAAG	0.388		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		24	Substitution - Missense(24)	p.Y1021C(23)|p.Y1021F(1)	endometrium(12)|large_intestine(6)|stomach(2)|lung(2)|central_nervous_system(1)|ovary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3061-3063)tAc>tGc		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							104.0	92.0	95.0					3																	178952007		1876	4119	5995	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952007A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3062A>G	3.37:g.178952007A>G	ENSP00000263967:p.Tyr1021Cys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.Y1021C	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3219	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1021		Y -> C (in cancer).|Y -> H (in cancer).|Y -> N (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3062A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	17.15	3.317192	0.60524	.	.	ENSG00000121879	ENST00000263967	D	0.81579	-1.51	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.90528	0.7032	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91676	0.5354	10	0.87932	D	0	-13.4912	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1021	P42336	PK3CA_HUMAN	C	1021	ENSP00000263967:Y1021C	ENSP00000263967:Y1021C	Y	+	2	0	PIK3CA	180434701	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	TAC		0.388	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			126	25	0	0	0	1	0	126	25				
FRG1B	284802	broad.mit.edu	37	20	29614328	29614328	+	Splice_Site	SNP	G	G	A	rs200267032		TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr20:29614328G>A	ENST00000278882.3	+	2	320		c.e2+1		FRG1B_ENST00000358464.4_Splice_Site|FRG1B_ENST00000439954.2_Splice_Site			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGATACGTTGGTGAGTCAGTT	0.289																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.e2+1																																						SO:0001630	splice_region_variant	0							g.chr20:29614328G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.-61+1G>A	20.37:g.29614328G>A						FRG1B_ENST00000358464.4_Splice_Site|FRG1B_ENST00000439954.2_Splice_Site								2	320	+								C4AME5	Splice_Site	SNP	ENST00000278882.3	37																																																																																						0.289	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	Intron	3	36	0	0	0	1	0	3	36				
NFAT5	10725	broad.mit.edu	37	16	69724960	69724960	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr16:69724960C>A	ENST00000354436.2	+	11	2156	c.1838C>A	c.(1837-1839)aCa>aAa	p.T613K	NFAT5_ENST00000349945.1_Missense_Mutation_p.T537K|NFAT5_ENST00000566899.1_Missense_Mutation_p.T537K|NFAT5_ENST00000432919.1_Missense_Mutation_p.T631K|NFAT5_ENST00000567239.1_Missense_Mutation_p.T630K|NFAT5_ENST00000393742.2_Missense_Mutation_p.T537K	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	613					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATGGAAGTAACAGCAGAAAAA	0.328																																						ENST00000349945.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1609-1611)aCa>aAa		nuclear factor of activated T-cells 5, tonicity-responsive							87.0	85.0	86.0					16																	69724960		2198	4298	6496	SO:0001583	missense	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69724960C>A	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.1838C>A	16.37:g.69724960C>A	ENSP00000346420:p.Thr613Lys					NFAT5_ENST00000566899.1_Missense_Mutation_p.T537K|NFAT5_ENST00000393742.2_Missense_Mutation_p.T537K|NFAT5_ENST00000567239.1_Missense_Mutation_p.T630K|NFAT5_ENST00000354436.2_Missense_Mutation_p.T613K|NFAT5_ENST00000432919.1_Missense_Mutation_p.T631K	p.T537K	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			13	3162	+			613					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	c.1610C>A	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463447	0.63513	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.27	5.27	0.74061	.	0.213076	0.48767	D	0.000170	T	0.36248	0.0960	L	0.44542	1.39	0.47476	D	0.999431	P;P;P	0.40909	0.732;0.732;0.608	B;B;B	0.32864	0.154;0.154;0.11	T	0.17471	-1.0368	10	0.18276	T	0.48	-2.9698	15.5125	0.75795	0.0:0.8519:0.1481:0.0	.	630;613;631	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	K	631;630;537;613;537	ENSP00000396538:T631K;ENSP00000338806:T537K;ENSP00000346420:T613K;ENSP00000377343:T537K	ENSP00000338806:T537K	T	+	2	0	NFAT5	68282461	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.466000	0.53071	2.466000	0.83321	0.655000	0.94253	ACA		0.328	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		13	31	1	0	7.03913e-09	1	7.67265e-09	13	31				
NUDT14	256281	broad.mit.edu	37	14	105639417	105639417	+	Missense_Mutation	SNP	C	C	T	rs368844988		TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr14:105639417C>T	ENST00000392568.2	-	5	703	c.610G>A	c.(610-612)Gtc>Atc	p.V204I	RP11-44N21.4_ENST00000548203.1_RNA|NUDT14_ENST00000550912.1_5'UTR	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14	204	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ADP-ribose diphosphatase activity (GO:0047631)|metal ion binding (GO:0046872)|UDP-sugar diphosphatase activity (GO:0008768)	p.V204I(1)		cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CCAAAGATGACGCCGAGGGTC	0.627										HNSCC(42;0.11)																												ENST00000392568.2																			1	Substitution - Missense(1)	p.V204I(1)	ovary(1)	cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14						c.(610-612)Gtc>Atc		nudix (nucleoside diphosphate linked moiety X)-type motif 14							77.0	78.0	78.0					14																	105639417		2202	4293	6495	SO:0001583	missense	256281					cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity	g.chr14:105639417C>T	AB087802	CCDS10000.1	14q32.33	2013-02-15			ENSG00000183828	ENSG00000183828		"""Nudix motif containing"""	20141	protein-coding gene	gene with protein product		609219				12429023	Standard	NM_177533		Approved	UGPP	uc010tyn.3	O95848	OTTHUMG00000170372	ENST00000392568.2:c.610G>A	14.37:g.105639417C>T	ENSP00000376349:p.Val204Ile	HNSCC(42;0.11)				RP11-44N21.4_ENST00000548203.1_RNA|NUDT14_ENST00000550912.1_5'UTR	p.V204I	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	5	703	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	204			Nudix hydrolase.		Q86SJ8	Missense_Mutation	SNP	ENST00000392568.2	37	c.610G>A	CCDS10000.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.538210	0.45176	.	.	ENSG00000183828	ENST00000392568	T	0.39787	1.06	3.32	3.32	0.38043	NUDIX hydrolase domain (2);NUDIX hydrolase domain-like (1);	0.079472	0.50627	D	0.000114	T	0.44664	0.1304	L	0.39085	1.19	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.40515	-0.9559	10	0.02654	T	1	-30.0639	10.4116	0.44296	0.0:1.0:0.0:0.0	.	204	O95848	NUD14_HUMAN	I	204	ENSP00000376349:V204I	ENSP00000376349:V204I	V	-	1	0	NUDT14	104710462	0.803000	0.28956	0.388000	0.26195	0.200000	0.23975	1.523000	0.35932	2.157000	0.67596	0.462000	0.41574	GTC		0.627	NUDT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074544.4	NM_177533		57	22	0	0	0	1	0	57	22				
APOBEC1	339	broad.mit.edu	37	12	7803729	7803729	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr12:7803729G>T	ENST00000229304.4	-	4	471	c.451C>A	c.(451-453)Cac>Aac	p.H151N		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	151					cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CTCCAGCAGTGATAATACTCT	0.458																																					Pancreas(135;929 1826 4531 10527 41012)	ENST00000229304.4																			0				kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						c.(451-453)Cac>Aac		apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1							100.0	91.0	94.0					12																	7803729		2203	4300	6503	SO:0001583	missense	339				cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding	g.chr12:7803729G>T	U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"""Apolipoprotein B mRNA editing enzymes"""	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.451C>A	12.37:g.7803729G>T	ENSP00000229304:p.His151Asn						p.H151N	NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN			4	471	-			151					Q9UE64|Q9UM71	Missense_Mutation	SNP	ENST00000229304.4	37	c.451C>A	CCDS8579.1	.	.	.	.	.	.	.	.	.	.	G	9.241	1.038169	0.19669	.	.	ENSG00000111701	ENST00000229304	T	0.64438	-0.1	4.9	-4.5	0.03493	APOBEC-like, C-terminal (1);	0.848754	0.10132	N	0.711913	T	0.60830	0.2299	M	0.73217	2.22	0.09310	N	1	P	0.42584	0.784	B	0.42738	0.396	T	0.60454	-0.7260	10	0.54805	T	0.06	-4.908	12.5321	0.56122	0.7855:0.0:0.2145:0.0	.	151	P41238	ABEC1_HUMAN	N	151	ENSP00000229304:H151N	ENSP00000229304:H151N	H	-	1	0	APOBEC1	7694996	0.091000	0.21658	0.011000	0.14972	0.193000	0.23685	0.103000	0.15292	-0.973000	0.03555	0.655000	0.94253	CAC		0.458	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280523.1	NM_001644		48	25	1	0	1.23103e-26	1	1.35537e-26	48	25				
GARNL3	84253	broad.mit.edu	37	9	130095380	130095380	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr9:130095380G>A	ENST00000373387.4	+	9	1101	c.749G>A	c.(748-750)cGt>cAt	p.R250H	GARNL3_ENST00000314904.5_Missense_Mutation_p.R250H|GARNL3_ENST00000435213.2_Missense_Mutation_p.R228H	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	250	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						ACGGGCTACCGTGGCGGTCTG	0.428																																						ENST00000373387.4																			0				NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						c.(748-750)cGt>cAt		GTPase activating Rap/RanGAP domain-like 3							82.0	85.0	84.0					9																	130095380		2203	4300	6503	SO:0001583	missense	84253				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	g.chr9:130095380G>A	BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.749G>A	9.37:g.130095380G>A	ENSP00000362485:p.Arg250His					GARNL3_ENST00000314904.5_Missense_Mutation_p.R250H|GARNL3_ENST00000435213.2_Missense_Mutation_p.R228H	p.R250H	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN			9	1101	+			250			Rap-GAP.		B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	ENST00000373387.4	37	c.749G>A	CCDS6869.2	.	.	.	.	.	.	.	.	.	.	G	35	5.498152	0.96355	.	.	ENSG00000136895	ENST00000435213;ENST00000314904;ENST00000373387	D;D;D	0.94417	-3.42;-3.42;-3.42	5.21	5.21	0.72293	Rap/ran-GAP (2);	0.052954	0.85682	D	0.000000	D	0.97898	0.9309	M	0.92268	3.29	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75484	0.986;0.986;0.964	D	0.98735	1.0714	9	.	.	.	.	17.6863	0.88257	0.0:0.0:1.0:0.0	.	250;228;191	Q5VVW2;B7Z3Q6;Q5VVW4	GARL3_HUMAN;.;.	H	228;250;250	ENSP00000396205:R228H;ENSP00000313970:R250H;ENSP00000362485:R250H	.	R	+	2	0	GARNL3	129135201	1.000000	0.71417	0.985000	0.45067	0.995000	0.86356	8.865000	0.92300	2.595000	0.87683	0.557000	0.71058	CGT		0.428	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293		49	5	0	0	0	1	0	49	5				
JARID2	3720	broad.mit.edu	37	6	15497073	15497073	+	Silent	SNP	G	G	T	rs375600114		TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr6:15497073G>T	ENST00000341776.2	+	7	1861	c.1617G>T	c.(1615-1617)tcG>tcT	p.S539S	JARID2_ENST00000541660.1_Silent_p.S501S|JARID2_ENST00000397311.3_Silent_p.S367S	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	539					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.S539S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CGCAGGACTCGGGCAAGGCCG	0.657																																						ENST00000341776.2																			1	Substitution - coding silent(1)	p.S539S(1)	lung(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59						c.(1615-1617)tcG>tcT		jumonji, AT rich interactive domain 2		G		0,4406		0,0,2203	23.0	26.0	25.0		1617	2.4	0.9	6		25	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	JARID2	NM_004973.2		0,1,6500	TT,TG,GG		0.0116,0.0,0.0077		539/1247	15497073	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15497073G>T	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.1617G>T	6.37:g.15497073G>T						JARID2_ENST00000397311.3_Silent_p.S367S|JARID2_ENST00000541660.1_Silent_p.S501S	p.S539S	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN			7	1861	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	539					A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Silent	SNP	ENST00000341776.2	37	c.1617G>T	CCDS4533.1																																																																																				0.657	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		21	33	1	0	4.96729e-08	1	5.36074e-08	21	33				
C12orf42	374470	broad.mit.edu	37	12	103696308	103696308	+	Missense_Mutation	SNP	C	C	T	rs371400301		TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr12:103696308C>T	ENST00000378113.2	-	6	886	c.661G>A	c.(661-663)Ggc>Agc	p.G221S	C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548883.1_Missense_Mutation_p.G221S|C12orf42_ENST00000548048.1_Missense_Mutation_p.G154S	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	221										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						CTGCAGAGGCCGATGGCAGTG	0.667																																						ENST00000548048.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						c.(460-462)Ggc>Agc		chromosome 12 open reading frame 42		C	SER/GLY,SER/GLY	2,3932		0,2,1965	29.0	33.0	31.0		661,661	0.5	0.0	12		31	0,8298		0,0,4149	no	missense,missense	C12orf42	NM_001099336.1,NM_198521.2	56,56	0,2,6114	TT,TC,CC		0.0,0.0508,0.0164	probably-damaging,probably-damaging	221/361,221/361	103696308	2,12230	1967	4149	6116	SO:0001583	missense	374470							g.chr12:103696308C>T	AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.661G>A	12.37:g.103696308C>T	ENSP00000367353:p.Gly221Ser					C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548883.1_Missense_Mutation_p.G221S|C12orf42_ENST00000378113.2_Missense_Mutation_p.G221S	p.G154S			Q96LP6	CL042_HUMAN			9	956	-			221					Q49A64|Q4G0S2	Missense_Mutation	SNP	ENST00000378113.2	37	c.460G>A	CCDS44963.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.307324	0.60305	5.08E-4	0.0	ENSG00000179088	ENST00000548883;ENST00000548048;ENST00000378113	T;T;T	0.64991	-0.13;-0.13;-0.13	4.39	0.502	0.16932	.	0.340024	0.21521	N	0.073201	T	0.42314	0.1197	L	0.34521	1.04	0.09310	N	1	P	0.45902	0.868	B	0.35813	0.211	T	0.38950	-0.9637	10	0.87932	D	0	-3.4622	7.4474	0.27219	0.0:0.6237:0.0:0.3763	.	221	Q96LP6	CL042_HUMAN	S	221;154;221	ENSP00000447908:G221S;ENSP00000449362:G154S;ENSP00000367353:G221S	ENSP00000367353:G221S	G	-	1	0	C12orf42	102220438	0.000000	0.05858	0.017000	0.16124	0.066000	0.16364	0.028000	0.13644	0.193000	0.20303	-0.291000	0.09656	GGC		0.667	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406754.1	NM_198521		34	57	0	0	0	1	0	34	57				
FBXW7	55294	broad.mit.edu	37	4	153249384	153249384	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr4:153249384C>G	ENST00000281708.4	-	9	2623	c.1394G>C	c.(1393-1395)cGt>cCt	p.R465P	FBXW7_ENST00000603841.1_Missense_Mutation_p.R465P|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465P|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385P|FBXW7_ENST00000296555.5_Missense_Mutation_p.R347P|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289P	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	465			R -> C (in a acute lymphoblastic leukemia cell line). {ECO:0000269|PubMed:11565033}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R465H(69)|p.R385H(16)|p.R226H(16)|p.R465L(4)|p.R347H(4)|p.R465Y(2)|p.?(1)|p.R385L(1)|p.R226L(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATGCATACAACGCACAGTGGA	0.408			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		114	Substitution - Missense(113)|Unknown(1)	p.R465H(69)|p.R385H(16)|p.R226H(16)|p.R465L(4)|p.R347H(4)|p.R465Y(2)|p.?(1)|p.R385L(1)|p.R226L(1)	haematopoietic_and_lymphoid_tissue(40)|large_intestine(39)|endometrium(24)|lung(5)|ovary(4)|cervix(1)|biliary_tract(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1393-1395)cGt>cCt		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							253.0	218.0	230.0					4																	153249384		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153249384C>G	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1394G>C	4.37:g.153249384C>G	ENSP00000281708:p.Arg465Pro					FBXW7_ENST00000296555.5_Missense_Mutation_p.R347P|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465P|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385P|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465P|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289P	p.R465P	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			9	2623	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	465		R -> C (in a acute lymphoblastic leukemia cell line).|R -> H (in a colorectal cancer sample; somatic mutation).			B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1394G>C	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.788159	0.90367	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	6.05	6.05	0.98169	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.72898	0.3518	M	0.89287	3.02	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;1.0	T	0.76236	-0.3033	10	0.87932	D	0	-17.2313	20.6013	0.99457	0.0:1.0:0.0:0.0	.	289;465;347;385	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	P	465;347;385;289	ENSP00000281708:R465P;ENSP00000296555:R347P;ENSP00000263981:R385P;ENSP00000377528:R289P	ENSP00000263981:R385P	R	-	2	0	FBXW7	153468834	1.000000	0.71417	0.960000	0.40013	0.996000	0.88848	7.818000	0.86416	2.878000	0.98634	0.650000	0.86243	CGT		0.408	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			42	57	0	0	0	1	0	42	57				
CHDC2	286464	broad.mit.edu	37	X	36091420	36091420	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chrX:36091420T>G	ENST00000313548.4	+	4	541	c.355T>G	c.(355-357)Ttc>Gtc	p.F119V		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	119						integral component of membrane (GO:0016021)											ACAGACCTGGTTCAGTCTCTT	0.403																																						ENST00000378660.1																			0											c.(355-357)Ttc>Gtc		calponin homology domain containing 2							118.0	104.0	109.0					X																	36091420		2202	4300	6502	SO:0001583	missense	286464							g.chrX:36091420T>G	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"""chromosome X open reading frame 59"""	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.355T>G	X.37:g.36091420T>G	ENSP00000324767:p.Phe119Val					CHDC2_ENST00000313548.4_Missense_Mutation_p.F119V	p.F119V							4	543	+									Missense_Mutation	SNP	ENST00000313548.4	37	c.355T>G	CCDS14238.1	.	.	.	.	.	.	.	.	.	.	T	15.51	2.856362	0.51376	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	4.96	4.96	0.65561	.	0.000000	0.52532	D	0.000069	T	0.50667	0.1629	L	0.34521	1.04	0.24417	N	0.99464	D	0.89917	1.0	D	0.77004	0.989	T	0.42982	-0.9419	9	0.87932	D	0	-10.8081	10.0456	0.42184	0.0:0.0:0.0:1.0	.	119	Q8N9S7	CX059_HUMAN	V	119	.	ENSP00000324767:F119V	F	+	1	0	CXorf59	36001341	1.000000	0.71417	0.999000	0.59377	0.403000	0.30841	5.462000	0.66707	1.635000	0.50512	0.430000	0.28490	TTC		0.403	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695		35	41	0	0	0	1	0	35	41				
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T	rs558255572		TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	62								p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333													.|||	1	0.000199681	0.0	0.0014	5008	,	,		30607	0.0		0.0	False		,,,				2504	0.0					ENST00000278882.3																			2	Substitution - Missense(2)	p.D62V(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(184-186)gAt>gTt																																						SO:0001583	missense	0							g.chr20:29625941A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.185A>T	20.37:g.29625941A>T	ENSP00000278882:p.Asp62Val					FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V	p.D62V							5	565	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.185A>T		.	.	.	.	.	.	.	.	.	.	a	11.46	1.644922	0.29246	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.55930	0.49	1.68	1.68	0.24146	.	0.000000	0.85682	U	0.000000	T	0.67316	0.2880	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.68300	-0.5445	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	67	F5H5R5	.	V	62;67;62	ENSP00000408863:D67V	ENSP00000278882:D62V	D	+	2	0	FRG1B	28239602	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	7.682000	0.84083	1.028000	0.39785	0.155000	0.16302	GAT		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	72	0	0	0	1	0	4	72				
USF1	7391	broad.mit.edu	37	1	161010072	161010072	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr1:161010072G>A	ENST00000368021.3	-	10	967	c.763C>T	c.(763-765)Cgg>Tgg	p.R255W	USF1_ENST00000368020.1_Missense_Mutation_p.R255W|TSTD1_ENST00000466967.1_5'Flank|TSTD1_ENST00000423014.2_5'Flank|TSTD1_ENST00000318289.10_5'Flank|USF1_ENST00000435396.1_Missense_Mutation_p.R196W|TSTD1_ENST00000368024.1_5'Flank|F11R_ENST00000289779.3_5'Flank|TSTD1_ENST00000368023.3_5'Flank|USF1_ENST00000368019.1_Missense_Mutation_p.R227W	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	upstream transcription factor 1	255					carbon catabolite regulation of transcription (GO:0045990)|cellular response to insulin stimulus (GO:0032869)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|late viral transcription (GO:0019086)|lipid homeostasis (GO:0055088)|negative regulation of fibrinolysis (GO:0051918)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter by glucose (GO:0000430)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TTACTCTGCCGAAGCTCCTGG	0.478																																						ENST00000368021.3																			0				central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(763-765)Cgg>Tgg		upstream transcription factor 1							94.0	93.0	93.0					1																	161010072		2203	4300	6503	SO:0001583	missense	7391				cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr1:161010072G>A	BC035505	CCDS1214.1	1q22-q23	2013-05-21			ENSG00000158773	ENSG00000158773		"""Basic helix-loop-helix proteins"""	12593	protein-coding gene	gene with protein product		191523				8486371	Standard	NM_007122		Approved	UEF, MLTFI, bHLHb11	uc031pqv.1	P22415	OTTHUMG00000031472	ENST00000368021.3:c.763C>T	1.37:g.161010072G>A	ENSP00000357000:p.Arg255Trp					USF1_ENST00000368019.1_Missense_Mutation_p.R227W|USF1_ENST00000368020.1_Missense_Mutation_p.R255W|USF1_ENST00000435396.1_Missense_Mutation_p.R196W	p.R255W	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		10	967	-	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		255			Helix-loop-helix motif.		B2RBZ4|Q5SY46|Q7Z5Y1	Missense_Mutation	SNP	ENST00000368021.3	37	c.763C>T	CCDS1214.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079884	0.76528	.	.	ENSG00000158773	ENST00000368020;ENST00000368021;ENST00000435396;ENST00000368019;ENST00000528768;ENST00000531842	D;D;D;D;D	0.97710	-4.5;-4.5;-4.5;-4.5;-4.5	5.24	4.31	0.51392	Helix-loop-helix DNA-binding (4);	0.000000	0.85682	D	0.000000	D	0.98667	0.9553	M	0.90198	3.095	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	D	0.99785	1.1029	10	0.87932	D	0	-28.7168	13.4238	0.61013	0.0:0.1586:0.8414:0.0	.	255	P22415	USF1_HUMAN	W	255;255;196;227;119;194	ENSP00000356999:R255W;ENSP00000357000:R255W;ENSP00000390109:R196W;ENSP00000356998:R227W;ENSP00000435005:R194W	ENSP00000356998:R227W	R	-	1	2	USF1	159276696	1.000000	0.71417	0.981000	0.43875	0.997000	0.91878	3.804000	0.55568	1.400000	0.46741	0.561000	0.74099	CGG		0.478	USF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077050.1	NM_007122		4	152	0	0	0	1	0	4	152				
CHD4	1108	broad.mit.edu	37	12	6686974	6686974	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr12:6686974T>C	ENST00000357008.2	-	37	5501	c.5338A>G	c.(5338-5340)Aaa>Gaa	p.K1780E	RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544040.1_Missense_Mutation_p.K1773E|CHD4_ENST00000309577.6_Missense_Mutation_p.K1808E|CHD4_ENST00000544484.1_Missense_Mutation_p.K1805E	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1780	Required for interaction with PCNT.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						GCTAGAAATTTATTCTTGATC	0.468																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(5422-5424)Aaa>Gaa		chromodomain helicase DNA binding protein 4							103.0	105.0	104.0					12																	6686974		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6686974T>C	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.5338A>G	12.37:g.6686974T>C	ENSP00000349508:p.Lys1780Glu					CHD4_ENST00000544484.1_Missense_Mutation_p.K1805E|CHD4_ENST00000544040.1_Missense_Mutation_p.K1773E|CHD4_ENST00000357008.2_Missense_Mutation_p.K1780E	p.K1808E			Q14839	CHD4_HUMAN			36	5585	-			1780			Required for interaction with PCNT.		Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.5422A>G	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	T	34	5.303741	0.95601	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.93488	-3.23;-3.13;-3.23;-3.14	5.51	5.51	0.81932	CHD, C-terminal 2 (1);	0.000000	0.85682	D	0.000000	D	0.96222	0.8768	M	0.70595	2.14	0.80722	D	1	D;D;D	0.69078	0.99;0.997;0.989	D;D;P	0.79108	0.979;0.992;0.885	D	0.96721	0.9532	10	0.87932	D	0	-9.1798	15.924	0.79597	0.0:0.0:0.0:1.0	.	1808;1780;1773	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	E	1805;1773;1808;1780;1754	ENSP00000440392:K1805E;ENSP00000440542:K1773E;ENSP00000312419:K1808E;ENSP00000349508:K1780E	ENSP00000312419:K1808E	K	-	1	0	CHD4	6557235	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.997000	0.88414	2.217000	0.71921	0.533000	0.62120	AAA		0.468	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		100	2	0	0	0	1	0	100	2				
KCNQ3	3786	broad.mit.edu	37	8	133141882	133141882	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr8:133141882G>A	ENST00000388996.4	-	15	2666	c.2246C>T	c.(2245-2247)cCt>cTt	p.P749L	KCNQ3_ENST00000519445.1_Missense_Mutation_p.P737L|KCNQ3_ENST00000521134.1_Missense_Mutation_p.P629L	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	749					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	AGTCAAGATAGGCAGGACCGT	0.617																																						ENST00000388996.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(2245-2247)cCt>cTt		potassium voltage-gated channel, KQT-like subfamily, member 3							35.0	37.0	37.0					8																	133141882		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133141882G>A	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.2246C>T	8.37:g.133141882G>A	ENSP00000373648:p.Pro749Leu					KCNQ3_ENST00000521134.1_Missense_Mutation_p.P629L|KCNQ3_ENST00000519445.1_Missense_Mutation_p.P737L	p.P749L	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		15	2666	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		749					A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.2246C>T	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.818985	0.50633	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99369	-5.69;-5.61;-5.78	5.39	5.39	0.77823	.	1.264800	0.05711	N	0.595963	D	0.98611	0.9535	N	0.08118	0	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.66716	0.946;0.946	D	0.94344	0.7573	10	0.32370	T	0.25	-15.9567	18.2178	0.89892	0.0:0.0:1.0:0.0	.	737;749	E7ET42;O43525	.;KCNQ3_HUMAN	L	749;629;737;726;628	ENSP00000373648:P749L;ENSP00000429799:P629L;ENSP00000428790:P737L	ENSP00000373648:P749L	P	-	2	0	KCNQ3	133211064	1.000000	0.71417	0.997000	0.53966	0.250000	0.25880	5.721000	0.68477	2.559000	0.86315	0.650000	0.86243	CCT		0.617	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		34	44	0	0	0	1	0	34	44				
GRIA3	2892	broad.mit.edu	37	X	122616806	122616806	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chrX:122616806T>C	ENST00000371251.1	+	15	2648	c.2596T>C	c.(2596-2598)Ttt>Ctt	p.F866L	GRIA3_ENST00000264357.5_Missense_Mutation_p.F866L|GRIA3_ENST00000542149.1_3'UTR|GRIA3_ENST00000371256.5_Missense_Mutation_p.F866L			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	866					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	CACCCAAAACTTTAAGCCTGC	0.468																																						ENST00000264357.5																			0				breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57						c.(2596-2598)Ttt>Ctt		glutamate receptor, ionotropic, AMPA 3	L-Glutamic Acid(DB00142)						124.0	102.0	109.0					X																	122616806		2203	4300	6503	SO:0001583	missense	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122616806T>C	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.2596T>C	X.37:g.122616806T>C	ENSP00000360297:p.Phe866Leu					GRIA3_ENST00000542149.1_3'UTR|GRIA3_ENST00000371256.5_Missense_Mutation_p.F866L|GRIA3_ENST00000371251.1_Missense_Mutation_p.F866L	p.F866L	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN			15	2888	+			866					D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	c.2596T>C	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	T	14.16	2.453509	0.43531	.	.	ENSG00000125675	ENST00000264357;ENST00000371256;ENST00000371251	T;T;T	0.11169	2.8;2.8;2.8	5.81	5.81	0.92471	.	0.136211	0.64402	D	0.000001	T	0.09730	0.0239	L	0.27053	0.805	0.80722	D	1	B;B	0.22683	0.043;0.073	B;B	0.30572	0.034;0.117	T	0.25882	-1.0119	10	0.13853	T	0.58	.	14.1842	0.65595	0.0:0.0:0.0:1.0	.	866;866	P42263;P42263-2	GRIA3_HUMAN;.	L	866	ENSP00000264357:F866L;ENSP00000360302:F866L;ENSP00000360297:F866L	ENSP00000264357:F866L	F	+	1	0	GRIA3	122444487	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.154000	0.64894	1.947000	0.56498	0.486000	0.48141	TTT		0.468	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		27	66	0	0	0	1	0	27	66				
TNKS1BP1	85456	broad.mit.edu	37	11	57076216	57076216	+	Silent	SNP	G	G	C			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr11:57076216G>C	ENST00000532437.1	-	5	4280	c.3969C>G	c.(3967-3969)acC>acG	p.T1323T	TNKS1BP1_ENST00000530920.1_5'Flank|TNKS1BP1_ENST00000358252.3_Silent_p.T1323T			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1323	Acidic.|Gly-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTGGGTCACAGGTCACCTCCA	0.612																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3967-3969)acC>acG		tankyrase 1 binding protein 1, 182kDa							135.0	147.0	143.0					11																	57076216		2201	4296	6497	SO:0001819	synonymous_variant	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57076216G>C	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.3969C>G	11.37:g.57076216G>C						TNKS1BP1_ENST00000358252.3_Silent_p.T1323T	p.T1323T			Q9C0C2	TB182_HUMAN			5	4280	-		all_epithelial(135;0.21)	1323			Acidic.|Gly-rich.		A7E2F8|Q6PJ35|Q6ZV74	Silent	SNP	ENST00000532437.1	37	c.3969C>G	CCDS7951.1																																																																																				0.612	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		206	252	0	0	0	1	0	206	252				
SLC5A8	160728	broad.mit.edu	37	12	101551128	101551128	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr12:101551128C>G	ENST00000536262.2	-	15	2320	c.1762G>C	c.(1762-1764)Gat>Cat	p.D588H		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCAGGATTATCAGTTCCACCA	0.388																																					GBM(60;420 1056 13605 22380 47675)	ENST00000536262.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1762-1764)Gat>Cat		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8							132.0	110.0	118.0					12																	101551128		2203	4300	6503	SO:0001583	missense	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101551128C>G	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.1762G>C	12.37:g.101551128C>G	ENSP00000445340:p.Asp588His						p.D588H	NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN			15	2320	-			588						Missense_Mutation	SNP	ENST00000536262.2	37	c.1762G>C	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.653098	0.67472	.	.	ENSG00000256870	ENST00000536262	D	0.86497	-2.13	5.15	4.2	0.49525	.	0.195225	0.41294	D	0.000918	D	0.84142	0.5407	L	0.50333	1.59	0.44181	D	0.996993	P	0.43826	0.818	B	0.42343	0.384	D	0.85355	0.1104	10	0.52906	T	0.07	.	12.981	0.58564	0.1605:0.8395:0.0:0.0	.	588	Q8N695	SC5A8_HUMAN	H	588	ENSP00000445340:D588H	ENSP00000445340:D588H	D	-	1	0	SLC5A8	100075259	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	1.691000	0.37721	2.574000	0.86865	0.655000	0.94253	GAT		0.388	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		11	15	0	0	0	1	0	11	15				
SPANXN3	139067	broad.mit.edu	37	X	142605155	142605155	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chrX:142605155T>C	ENST00000370503.2	-	1	148	c.65A>G	c.(64-66)aAa>aGa	p.K22R	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	22										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					ATCATTTTTTTTGTTATTGGA	0.453																																						ENST00000370503.2																			0				endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14						c.(64-66)aAa>aGa		SPANX family, member N3							229.0	197.0	208.0					X																	142605155		2203	4300	6503	SO:0001583	missense	139067							g.chrX:142605155T>C		CCDS35418.1	Xq27.3	2012-06-12			ENSG00000189252	ENSG00000189252			33176	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 8"""	300666				14973187, 17012309	Standard	NM_001009609		Approved	SPANX-N3, CT11.8	uc004fbw.3	Q5MJ09	OTTHUMG00000022582	ENST00000370503.2:c.65A>G	X.37:g.142605155T>C	ENSP00000359534:p.Lys22Arg						p.K22R	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN			1	148	-	Acute lymphoblastic leukemia(192;6.56e-05)		22					Q0ZNK4	Missense_Mutation	SNP	ENST00000370503.2	37	c.65A>G	CCDS35418.1	.	.	.	.	.	.	.	.	.	.	-	3.053	-0.194982	0.06259	.	.	ENSG00000189252	ENST00000370503	T	0.07327	3.2	2.31	-2.38	0.06622	.	.	.	.	.	T	0.04497	0.0123	N	0.22421	0.69	0.09310	N	1	B	0.33883	0.43	B	0.31869	0.137	T	0.43925	-0.9361	9	0.21014	T	0.42	.	6.0209	0.19628	0.0:0.4817:0.0:0.5183	.	22	Q5MJ09	SPXN3_HUMAN	R	22	ENSP00000359534:K22R	ENSP00000359534:K22R	K	-	2	0	SPANXN3	142432821	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.003000	0.12901	-0.563000	0.06078	-0.489000	0.04712	AAA		0.453	SPANXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058620.2	NM_001009609		5	121	0	0	0	1	0	5	121				
MKX	283078	broad.mit.edu	37	10	28023623	28023623	+	Silent	SNP	C	C	T			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr10:28023623C>T	ENST00000375790.5	-	5	1032	c.600G>A	c.(598-600)gcG>gcA	p.A200A	MKX_ENST00000419761.1_Silent_p.A200A			Q8IYA7	MKX_HUMAN	mohawk homeobox	200					collagen fibril organization (GO:0030199)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|positive regulation of collagen biosynthetic process (GO:0032967)|tendon cell differentiation (GO:0035990)|tendon sheath development (GO:0002932)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						GCCTCACTCCCGCTTTGATGA	0.488																																						ENST00000375790.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						c.(598-600)gcG>gcA		mohawk homeobox							156.0	151.0	153.0					10																	28023623		2203	4300	6503	SO:0001819	synonymous_variant	283078				muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:28023623C>T	BC036207	CCDS7156.1	10p12.1	2011-06-20	2006-03-31	2006-03-31	ENSG00000150051	ENSG00000150051		"""Homeoboxes / TALE class"""	23729	protein-coding gene	gene with protein product		601332	"""chromosome 10 open reading frame 48"", ""iroquois homeobox protein-like 1"""	C10orf48, IRXL1		16408284	Standard	NM_173576		Approved	MGC39616	uc001itx.4	Q8IYA7	OTTHUMG00000017862	ENST00000375790.5:c.600G>A	10.37:g.28023623C>T						MKX_ENST00000419761.1_Silent_p.A200A	p.A200A			Q8IYA7	MKX_HUMAN			5	1032	-			200					B3KWM5	Silent	SNP	ENST00000375790.5	37	c.600G>A	CCDS7156.1																																																																																				0.488	MKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047332.3	NM_173576		22	83	0	0	0	1	0	22	83				
DUSP27	92235	broad.mit.edu	37	1	167096275	167096275	+	Missense_Mutation	SNP	C	C	T	rs202017285	byFrequency	TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr1:167096275C>T	ENST00000361200.2	+	6	2073	c.1907C>T	c.(1906-1908)aCg>aTg	p.T636M	DUSP27_ENST00000271385.5_Missense_Mutation_p.T636M|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.T636M			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	636					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGCCGGCAGACGCTGGAGGAG	0.632													C|||	5	0.000998403	0.0	0.0	5008	,	,		14183	0.005		0.0	False		,,,				2504	0.0					ENST00000361200.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(1906-1908)aCg>aTg		dual specificity phosphatase 27 (putative)							37.0	34.0	35.0					1																	167096275		2202	4299	6501	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167096275C>T	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1907C>T	1.37:g.167096275C>T	ENSP00000354483:p.Thr636Met					DUSP27_ENST00000271385.5_Missense_Mutation_p.T636M|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.T636M	p.T636M			Q5VZP5	DUS27_HUMAN			6	2073	+			636					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.1907C>T	CCDS30932.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	C	16.28	3.078802	0.55753	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03689	3.84;3.84;3.84	5.1	5.1	0.69264	.	0.087500	0.43579	D	0.000551	T	0.03520	0.0101	M	0.65975	2.015	0.33061	D	0.534058	D	0.65815	0.995	P	0.49502	0.613	T	0.16719	-1.0393	10	0.87932	D	0	-13.8238	5.1441	0.14975	0.2009:0.6729:0.0:0.1261	.	636	Q5VZP5	DUS27_HUMAN	M	636	ENSP00000354483:T636M;ENSP00000271385:T636M;ENSP00000404874:T636M	ENSP00000271385:T636M	T	+	2	0	DUSP27	165362899	0.959000	0.32827	0.990000	0.47175	0.987000	0.75469	2.092000	0.41700	2.360000	0.80028	0.643000	0.83706	ACG		0.632	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		27	28	0	0	0	1	0	27	28				
FARSB	10056	broad.mit.edu	37	2	223499175	223499175	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr2:223499175T>C	ENST00000281828.6	-	6	804	c.541A>G	c.(541-543)Atc>Gtc	p.I181V	FARSB_ENST00000536361.1_Missense_Mutation_p.I82V	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	181					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	TTGAATTTGATATCTGAAGGA	0.398																																						ENST00000281828.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(541-543)Atc>Gtc		phenylalanyl-tRNA synthetase, beta subunit	L-Phenylalanine(DB00120)						96.0	95.0	95.0					2																	223499175		2203	4300	6503	SO:0001583	missense	10056				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding	g.chr2:223499175T>C	AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	17800	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, beta, cytoplasmic"""	609690	"""phenylalanyl-tRNA synthetase-like, beta subunit"""	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.541A>G	2.37:g.223499175T>C	ENSP00000281828:p.Ile181Val					FARSB_ENST00000536361.1_Missense_Mutation_p.I82V	p.I181V	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	6	804	-		Renal(207;0.0183)	181					B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Missense_Mutation	SNP	ENST00000281828.6	37	c.541A>G	CCDS2454.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.256752	0.80246	.	.	ENSG00000116120	ENST00000281828;ENST00000536361	T;T	0.29655	1.56;1.56	5.24	5.24	0.73138	B3/B4 tRNA-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.53802	0.1819	M	0.71920	2.185	0.80722	D	1	P;B	0.41524	0.753;0.415	P;P	0.60541	0.876;0.648	T	0.52041	-0.8628	10	0.44086	T	0.13	-17.7791	15.1208	0.72441	0.0:0.0:0.0:1.0	.	181;181	A8K666;Q9NSD9	.;SYFB_HUMAN	V	181;82	ENSP00000281828:I181V;ENSP00000442950:I82V	ENSP00000281828:I181V	I	-	1	0	FARSB	223207419	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.647000	0.83462	1.976000	0.57569	0.482000	0.46254	ATC		0.398	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256855.2	NM_005687		11	21	0	0	0	1	0	11	21				
LUM	4060	broad.mit.edu	37	12	91502614	91502614	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr12:91502614G>A	ENST00000266718.4	-	2	597	c.143C>T	c.(142-144)cCa>cTa	p.P48L	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	48	Cys-rich.|LRRNT.				carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						CATGGCACTTGGGTAGCTTTC	0.418																																						ENST00000266718.4																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						c.(142-144)cCa>cTa		lumican							110.0	106.0	107.0					12																	91502614		2203	4300	6503	SO:0001583	missense	4060				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	g.chr12:91502614G>A	BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6724	protein-coding gene	gene with protein product	"""lumican proteoglycan"""	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.143C>T	12.37:g.91502614G>A	ENSP00000266718:p.Pro48Leu					LUM_ENST00000548071.1_Intron	p.P48L	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN			2	597	-			48			Cys-rich.|LRRNT.		B2R6R5|Q96QM7	Missense_Mutation	SNP	ENST00000266718.4	37	c.143C>T	CCDS9038.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501878	0.85176	.	.	ENSG00000139329	ENST00000266718	D	0.96136	-3.92	5.66	5.66	0.87406	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.97717	0.9251	M	0.84082	2.675	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.96420	0.9311	10	0.29301	T	0.29	-15.1291	20.1225	0.97967	0.0:0.0:1.0:0.0	.	48	P51884	LUM_HUMAN	L	48	ENSP00000266718:P48L	ENSP00000266718:P48L	P	-	2	0	LUM	90026745	1.000000	0.71417	0.753000	0.31225	0.863000	0.49368	9.420000	0.97426	2.831000	0.97527	0.650000	0.86243	CCA		0.418	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407150.2	NM_002345		18	23	0	0	0	1	0	18	23				
ADAMTSL1	92949	broad.mit.edu	37	9	18622331	18622331	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr9:18622331C>T	ENST00000380548.4	+	5	904	c.565C>T	c.(565-567)Cga>Tga	p.R189*	ADAMTSL1_ENST00000276935.6_Nonsense_Mutation_p.R189*|ADAMTSL1_ENST00000380566.4_Nonsense_Mutation_p.R189*|ADAMTSL1_ENST00000380570.4_Nonsense_Mutation_p.R189*|ADAMTSL1_ENST00000327883.7_Nonsense_Mutation_p.R189*	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	189						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCGGCTGGTCCGAGGGCAGTA	0.532																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(565-567)Cga>Tga		ADAMTS-like 1							82.0	79.0	80.0					9																	18622331		2203	4300	6503	SO:0001587	stop_gained	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18622331C>T	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.565C>T	9.37:g.18622331C>T	ENSP00000369921:p.Arg189*					ADAMTSL1_ENST00000276935.6_Nonsense_Mutation_p.R189*|ADAMTSL1_ENST00000380570.4_Nonsense_Mutation_p.R189*|ADAMTSL1_ENST00000327883.7_Nonsense_Mutation_p.R189*|ADAMTSL1_ENST00000380566.4_Nonsense_Mutation_p.R189*	p.R189*	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	5	904	+			189					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Nonsense_Mutation	SNP	ENST00000380548.4	37	c.565C>T	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	C	30	5.055653	0.93793	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000380570;ENST00000380566;ENST00000276935	.	.	.	5.46	3.28	0.37604	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9375	0.70967	0.3132:0.6868:0.0:0.0	.	.	.	.	X	189	.	ENSP00000276935:R189X	R	+	1	2	ADAMTSL1	18612331	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.744000	0.38268	1.396000	0.46663	0.655000	0.94253	CGA		0.532	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			29	61	0	0	0	1	0	29	61				
SIGLEC10	89790	broad.mit.edu	37	19	51920476	51920476	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr19:51920476C>T	ENST00000339313.5	-	2	397	c.281G>A	c.(280-282)gGg>gAg	p.G94E	SIGLEC10_ENST00000525998.1_Missense_Mutation_p.G94E|CTD-2616J11.3_ENST00000532473.1_RNA|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.G94E|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.G94E|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.G94E|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.G94E|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.G94E|SIGLEC10_ENST00000353836.5_Missense_Mutation_p.G94E|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.G94E			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	94	Ig-like V-type.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GGCGGGATCCCCAGTGAGCTG	0.562																																						ENST00000353836.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(280-282)gGg>gAg		sialic acid binding Ig-like lectin 10							61.0	60.0	60.0					19																	51920476		2203	4300	6503	SO:0001583	missense	89790				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr19:51920476C>T	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.281G>A	19.37:g.51920476C>T	ENSP00000345243:p.Gly94Glu					CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.G94E|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.G94E|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.G94E|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.G94E|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.G94E|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.G94E|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.G94E|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.G94E	p.G94E	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)	2	502	-		all_neural(266;0.0199)	94			Ig-like V-type.		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	ENST00000339313.5	37	c.281G>A	CCDS12832.1	.	.	.	.	.	.	.	.	.	.	.	17.24	3.338058	0.60963	.	.	ENSG00000142512	ENST00000353836;ENST00000432469;ENST00000442846;ENST00000356298;ENST00000441969;ENST00000525998;ENST00000439889;ENST00000436984;ENST00000339313;ENST00000530476	T;T;T;T;T;T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02;2.02;2.02;2.02;2.02;2.02	4.92	3.89	0.44902	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000020	T	0.52980	0.1768	M	0.93550	3.43	0.09310	N	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.979;1.0;0.999;0.995;0.997	T	0.52837	-0.8522	10	0.87932	D	0	.	9.2535	0.37568	0.0:0.8984:0.0:0.1016	.	94;94;94;94;94;94;94	C9JM10;E9PL79;C9JJ33;Q96LC7-2;Q96LC7-6;Q96LC7-3;Q96LC7	.;.;.;.;.;.;SIG10_HUMAN	E	94;94;94;94;94;94;94;94;94;61	ENSP00000342389:G94E;ENSP00000396742:G94E;ENSP00000395475:G94E;ENSP00000348646:G94E;ENSP00000408387:G94E;ENSP00000431444:G94E;ENSP00000389132:G94E;ENSP00000414324:G94E;ENSP00000345243:G94E;ENSP00000433838:G61E	ENSP00000345243:G94E	G	-	2	0	SIGLEC10	56612288	0.583000	0.26757	0.005000	0.12908	0.084000	0.17831	3.573000	0.53856	1.071000	0.40834	0.313000	0.20887	GGG		0.562	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		51	37	0	0	0	1	0	51	37				
CDH26	60437	broad.mit.edu	37	20	58533811	58533811	+	Silent	SNP	G	G	C			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr20:58533811G>C	ENST00000244047.5	+	1	341	c.30G>C	c.(28-30)tcG>tcC	p.S10S	CDH26_ENST00000348616.4_Silent_p.S10S			Q8IXH8	CAD26_HUMAN	cadherin 26	10					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GGCACCCCTCgctgctgctgc	0.587																																						ENST00000348616.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(28-30)tcG>tcC		cadherin 26							88.0	73.0	78.0					20																	58533811		2203	4300	6503	SO:0001819	synonymous_variant	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58533811G>C	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.30G>C	20.37:g.58533811G>C						CDH26_ENST00000244047.5_Silent_p.S10S	p.S10S	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		1	330	+	all_lung(29;0.00963)		10					A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Silent	SNP	ENST00000244047.5	37	c.30G>C																																																																																					0.587	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		23	57	0	0	0	1	0	23	57				
SLC25A28	81894	broad.mit.edu	37	10	101379857	101379857	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr10:101379857C>G	ENST00000370495.4	-	1	264	c.236G>C	c.(235-237)gGc>gCc	p.G79A	RP11-85A1.3_ENST00000566847.1_RNA|SLC25A28_ENST00000496035.1_Intron	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 28	79					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		TGCCACGGCGCCTGCCACCAT	0.692																																						ENST00000370495.4																			0				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11						c.(235-237)gGc>gCc		solute carrier family 25 (mitochondrial iron transporter), member 28							12.0	15.0	14.0					10																	101379857		1972	4120	6092	SO:0001583	missense	81894				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane		g.chr10:101379857C>G	AF327402	CCDS41559.1	10q24.2	2013-05-22	2012-03-29		ENSG00000155287	ENSG00000155287		"""Solute carriers"""	23472	protein-coding gene	gene with protein product	"""mitoferrin 2"""	609767	"""solute carrier family 25, member 28"""			11297739	Standard	NM_031212		Approved	MRS3/4, MRS4L	uc001kpx.2	Q96A46	OTTHUMG00000018886	ENST00000370495.4:c.236G>C	10.37:g.101379857C>G	ENSP00000359526:p.Gly79Ala					SLC25A28_ENST00000496035.1_Intron	p.G79A	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)	1	264	-		Colorectal(252;0.234)	79					Q4VBZ0|Q5T777|Q86VX5|Q969G8|Q9H2J3	Missense_Mutation	SNP	ENST00000370495.4	37	c.236G>C	CCDS41559.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	27.6|27.6	4.843395|4.843395	0.91197|0.91197	.|.	.|.	ENSG00000155287|ENSG00000155287	ENST00000370495|ENST00000434701	D|T	0.91237|0.78924	-2.81|-1.22	4.43|4.43	4.43|4.43	0.53597|0.53597	Mitochondrial carrier domain (2);|.	0.000000|.	0.64402|.	D|.	0.000001|.	D|D	0.85902|0.85902	0.5805|0.5805	M|M	0.85945|0.85945	2.785|2.785	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	D|D	0.84307|0.84307	0.0508|0.0508	10|7	0.66056|0.20519	D|T	0.02|0.43	-6.7735|-6.7735	15.7826|15.7826	0.78272|0.78272	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	79|.	Q96A46|.	MFRN2_HUMAN|.	A|S	79|16	ENSP00000359526:G79A|ENSP00000399102:R16S	ENSP00000359526:G79A|ENSP00000399102:R16S	G|R	-|-	2|3	0|2	SLC25A28|SLC25A28	101369847|101369847	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.083000|7.083000	0.76859|0.76859	2.265000|2.265000	0.75225|0.75225	0.457000|0.457000	0.33378|0.33378	GGC|AGG		0.692	SLC25A28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049801.1	NM_031212		8	17	0	0	0	1	0	8	17				
KLHL4	56062	broad.mit.edu	37	X	86869493	86869493	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chrX:86869493T>A	ENST00000373119.4	+	3	792	c.647T>A	c.(646-648)cTt>cAt	p.L216H	KLHL4_ENST00000373114.4_Missense_Mutation_p.L216H	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	216	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						AATGATGTGCTTGAAGCCAAA	0.378																																						ENST00000373119.4																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						c.(646-648)cTt>cAt		kelch-like family member 4							175.0	134.0	148.0					X																	86869493		2203	4300	6503	SO:0001583	missense	0					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86869493T>A	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.647T>A	X.37:g.86869493T>A	ENSP00000362211:p.Leu216His					KLHL4_ENST00000373114.4_Missense_Mutation_p.L216H	p.L216H	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN			3	792	+			216			BTB.		B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.647T>A	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.173225	0.57584	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.67345	-0.26;-0.26	4.71	2.06	0.26882	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.295249	0.30085	N	0.010444	T	0.67420	0.2891	L	0.39633	1.23	0.29036	N	0.885407	P;P	0.51147	0.916;0.942	P;P	0.57009	0.811;0.712	T	0.62661	-0.6807	10	0.45353	T	0.12	.	10.6267	0.45512	0.0:0.0:0.5975:0.4025	.	216;216	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	H	216	ENSP00000362211:L216H;ENSP00000362206:L216H	ENSP00000362206:L216H	L	+	2	0	KLHL4	86756149	1.000000	0.71417	0.959000	0.39883	0.994000	0.84299	4.365000	0.59486	0.476000	0.27440	0.356000	0.21956	CTT		0.378	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			16	18	0	0	0	1	0	16	18				
LOC645166	645166	broad.mit.edu	37	1	148933289	148933289	+	lincRNA	SNP	A	A	G	rs9729175	byFrequency	TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr1:148933289A>G	ENST00000539543.1	+	0	176					NR_027355.2																						TGCTGCCCGCAGGATATTGTG	0.562													.|||	630	0.125799	0.112	0.1282	5008	,	,		27649	0.1796		0.0656	False		,,,				2504	0.1493					ENST00000539543.1																			0																																																			0							g.chr1:148933289A>G																													1.37:g.148933289A>G								NR_027355.1						0	176	+									RNA	SNP	ENST00000539543.1	37																																																																																						0.562	RP11-14N7.2-201	KNOWN	basic	lincRNA	lincRNA				5	27	0	0	0	1	0	5	27				
NOS2	4843	broad.mit.edu	37	17	26116637	26116637	+	Missense_Mutation	SNP	G	G	A	rs141421929	byFrequency	TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr17:26116637G>A	ENST00000313735.6	-	3	421	c.188C>T	c.(187-189)aCg>aTg	p.T63M		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	63					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	GACCTTTCCCGTCTCCACGAG	0.567																																						ENST00000313735.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56						c.(187-189)aCg>aTg		nitric oxide synthase 2, inducible	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	G	MET/THR	0,4406		0,0,2203	178.0	154.0	162.0		188	-1.9	0.0	17	dbSNP_134	162	6,8594	5.0+/-18.6	0,6,4294	yes	missense	NOS2	NM_000625.4	81	0,6,6497	AA,AG,GG		0.0698,0.0,0.0461	benign	63/1154	26116637	6,13000	2203	4300	6503	SO:0001583	missense	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26116637G>A	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.188C>T	17.37:g.26116637G>A	ENSP00000327251:p.Thr63Met						p.T63M	NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN			3	421	-			63					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	c.188C>T	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.400130	0.25291	0.0	6.98E-4	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.01705	4.68	5.12	-1.86	0.07760	.	1.452580	0.04315	N	0.349715	T	0.01592	0.0051	L	0.32530	0.975	0.09310	N	1	B;B	0.32693	0.38;0.024	B;B	0.21151	0.033;0.006	T	0.46317	-0.9200	10	0.45353	T	0.12	.	5.1794	0.15152	0.3939:0.0:0.4726:0.1335	.	63;63	F8WEM3;P35228	.;NOS2_HUMAN	M	63	ENSP00000327251:T63M	ENSP00000305638:T63M	T	-	2	0	NOS2	23140764	0.000000	0.05858	0.000000	0.03702	0.103000	0.19146	0.097000	0.15168	0.039000	0.15632	0.557000	0.71058	ACG		0.567	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		78	3	0	0	0	1	0	78	3				
ZFPM2	23414	broad.mit.edu	37	8	106814196	106814196	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr8:106814196C>T	ENST00000407775.2	+	8	2136	c.1886C>T	c.(1885-1887)tCc>tTc	p.S629F	ZFPM2_ENST00000378472.4_Missense_Mutation_p.S360F|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S497F|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S497F|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000521622.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	629					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ATCAATTCTTCCACTGTCTTA	0.443																																						ENST00000407775.2																			0				NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(1885-1887)tCc>tTc		zinc finger protein, FOG family member 2							81.0	76.0	77.0					8																	106814196		1889	4137	6026	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106814196C>T	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1886C>T	8.37:g.106814196C>T	ENSP00000384179:p.Ser629Phe					RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S497F|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S497F|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S360F|ZFPM2_ENST00000522296.1_3'UTR	p.S629F	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	2136	+			629					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.1886C>T	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.496552	0.44352	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.21361	2.01;2.51;2.51;3.66	5.86	5.86	0.93980	.	0.216020	0.50627	D	0.000117	T	0.18593	0.0446	L	0.27053	0.805	0.29779	N	0.834169	P	0.44090	0.826	B	0.41723	0.365	T	0.04307	-1.0961	10	0.48119	T	0.1	.	15.6386	0.76977	0.0:0.8634:0.1366:0.0	.	629	Q8WW38	FOG2_HUMAN	F	629;497;497;360	ENSP00000384179:S629F;ENSP00000430757:S497F;ENSP00000428720:S497F;ENSP00000367733:S360F	ENSP00000367733:S360F	S	+	2	0	ZFPM2	106883372	0.960000	0.32886	0.297000	0.24988	0.970000	0.65996	4.593000	0.61034	2.777000	0.95525	0.655000	0.94253	TCC		0.443	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			24	72	0	0	0	1	0	24	72				
GLI3	2737	broad.mit.edu	37	7	42004014	42004014	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr7:42004014T>C	ENST00000395925.3	-	15	4741	c.4657A>G	c.(4657-4659)Agc>Ggc	p.S1553G	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1553					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TTGGTGGTGCTCATGGACAGC	0.547									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(4657-4659)Agc>Ggc		GLI family zinc finger 3							87.0	86.0	86.0					7																	42004014		2203	4300	6503	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42004014T>C		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.4657A>G	7.37:g.42004014T>C	ENSP00000379258:p.Ser1553Gly					GLI3_ENST00000479210.1_5'UTR	p.S1553G	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			15	4741	-			1553					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.4657A>G	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	T	3.821	-0.037775	0.07497	.	.	ENSG00000106571	ENST00000395925	T	0.05855	3.38	6.03	2.29	0.28610	.	0.313869	0.43260	N	0.000583	T	0.02380	0.0073	N	0.04148	-0.265	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43261	-0.9402	10	0.02654	T	1	.	9.3856	0.38340	0.0:0.2116:0.0:0.7884	.	1553	P10071	GLI3_HUMAN	G	1553	ENSP00000379258:S1553G	ENSP00000379258:S1553G	S	-	1	0	GLI3	41970539	0.994000	0.37717	0.984000	0.44739	0.969000	0.65631	2.229000	0.42990	0.471000	0.27319	0.533000	0.62120	AGC		0.547	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		29	33	0	0	0	1	0	29	33				
IFT74	80173	broad.mit.edu	37	9	26961996	26961996	+	Missense_Mutation	SNP	C	C	T	rs545013743		TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr9:26961996C>T	ENST00000443698.1	+	2	202	c.31C>T	c.(31-33)Cgc>Tgc	p.R11C	IFT74_ENST00000433700.1_Missense_Mutation_p.R11C|IFT74_ENST00000380062.5_Missense_Mutation_p.R11C|IFT74_ENST00000429045.2_Missense_Mutation_p.R11C	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74	11	Basic region.				cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|keratinocyte development (GO:0003334)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|nucleus (GO:0005634)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		TTCAGCAGCTCGCCCTGTTTC	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		19360	0.001		0.0	False		,,,				2504	0.0					ENST00000443698.1																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						c.(31-33)Cgc>Tgc		intraflagellar transport 74 homolog (Chlamydomonas)							102.0	96.0	98.0					9																	26961996		1881	4114	5995	SO:0001583	missense	80173					cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum		g.chr9:26961996C>T	AK023707	CCDS43793.1, CCDS47955.1	9p21.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000096872	ENSG00000096872		"""Intraflagellar transport homologs"""	21424	protein-coding gene	gene with protein product	"""capillary morphogenesis protein 1"""	608040	"""coiled-coil domain containing 2"", ""intraflagellar transport 74 homolog (Chlamydomonas)"""	CCDC2		11683410	Standard	NM_001099223		Approved	CMG1, CMG-1, FLJ22621	uc003zqg.4	Q96LB3	OTTHUMG00000021028	ENST00000443698.1:c.31C>T	9.37:g.26961996C>T	ENSP00000404122:p.Arg11Cys					IFT74_ENST00000429045.2_Missense_Mutation_p.R11C|IFT74_ENST00000433700.1_Missense_Mutation_p.R11C|IFT74_ENST00000380062.5_Missense_Mutation_p.R11C	p.R11C	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)	2	202	+		all_neural(11;2.36e-10)	11					Q3B789|Q5VY34|Q6PGQ8|Q9H643|Q9H8G7	Missense_Mutation	SNP	ENST00000443698.1	37	c.31C>T	CCDS43793.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.416448	0.62511	.	.	ENSG00000096872	ENST00000519968;ENST00000433700;ENST00000517444;ENST00000443698;ENST00000380062;ENST00000544022;ENST00000518614;ENST00000429045	T;T;T;T;T;T;T	0.53423	1.49;2.36;1.35;2.36;2.36;0.62;1.97	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.70124	0.3188	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.83275	0.996;0.903	T	0.74203	-0.3741	10	0.87932	D	0	-3.1602	14.7683	0.69657	0.0:1.0:0.0:0.0	.	11;11	Q96LB3;Q96LB3-2	IFT74_HUMAN;.	C	11	ENSP00000430004:R11C;ENSP00000389224:R11C;ENSP00000430096:R11C;ENSP00000404122:R11C;ENSP00000369402:R11C;ENSP00000430526:R11C;ENSP00000393907:R11C	ENSP00000369402:R11C	R	+	1	0	IFT74	26951996	1.000000	0.71417	0.993000	0.49108	0.431000	0.31685	3.688000	0.54699	2.557000	0.86248	0.585000	0.79938	CGC		0.433	IFT74-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055476.2	NM_025103		45	42	0	0	0	1	0	45	42				
BMS1P20	96610	broad.mit.edu	37	22	22664056	22664056	+	RNA	SNP	T	T	C	rs3178309	byFrequency	TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr22:22664056T>C	ENST00000426066.1	+	0	623					NR_027293.1				BMS1 pseudogene 20																		ATAAAGTATATGATTTTGTGT	0.348													.|||	2	0.000399361	0.0008	0.0014	5008	,	,		19780	0.0		0.0	False		,,,				2504	0.0					ENST00000426066.1																			0																																																			0							g.chr22:22664056T>C			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664056T>C								NR_027293.1						0	623	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.348	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	26	0	0	0	1	0	3	26				
RP11-483E23.2	0	broad.mit.edu	37	15	28599954	28599954	+	RNA	SNP	A	A	G			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr15:28599954A>G	ENST00000568624.1	-	0	452																											GGCTGTAGTAAAGTGCCATCT	0.478																																						ENST00000568624.1																			0																																																			0							g.chr15:28599954A>G																													15.37:g.28599954A>G														0	452	-									RNA	SNP	ENST00000568624.1	37																																																																																						0.478	RP11-483E23.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000431212.1			5	107	0	0	0	1	0	5	107				
WDR36	134430	broad.mit.edu	37	5	110438053	110438053	+	Silent	SNP	A	A	G			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr5:110438053A>G	ENST00000513710.2	+	6	724	c.720A>G	c.(718-720)ctA>ctG	p.L240L	WDR36_ENST00000506538.2_Silent_p.L240L|WDR36_ENST00000505303.1_Silent_p.L184L			Q8NI36	WDR36_HUMAN	WD repeat domain 36	240					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GTAAACTTCTATATACATTTC	0.303																																						ENST00000506538.2																			0				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(718-720)ctA>ctG		WD repeat domain 36							54.0	58.0	57.0					5																	110438053		2202	4298	6500	SO:0001819	synonymous_variant	134430				response to stimulus|rRNA processing|visual perception	small-subunit processome		g.chr5:110438053A>G	AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"""WD repeat domain containing"""	30696	protein-coding gene	gene with protein product		609669	"""glaucoma 1, open angle, G"""	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.720A>G	5.37:g.110438053A>G						WDR36_ENST00000513710.2_Silent_p.L240L|WDR36_ENST00000505303.1_Silent_p.L184L	p.L240L	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)	6	1293	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)	240					A2RUS4|Q68E02|Q8N1Q2	Silent	SNP	ENST00000513710.2	37	c.720A>G	CCDS4102.1																																																																																				0.303	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	NM_139281		19	9	0	0	0	1	0	19	9				
TLR1	7096	broad.mit.edu	37	4	38800071	38800071	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr4:38800071C>A	ENST00000502213.2	-	3	611	c.382G>T	c.(382-384)Gcc>Tcc	p.A128S	TLR1_ENST00000308979.2_Missense_Mutation_p.A128S			Q15399	TLR1_HUMAN	toll-like receptor 1	128					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						ATAGGCAGGGCATCAAATGCA	0.418																																					GBM(5;216 373 40795 46382)	ENST00000308979.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						c.(382-384)Gcc>Tcc		toll-like receptor 1							143.0	142.0	142.0					4																	38800071		2203	4300	6503	SO:0001583	missense	7096				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	g.chr4:38800071C>A	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"""CD molecules"""	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.382G>T	4.37:g.38800071C>A	ENSP00000421259:p.Ala128Ser					TLR1_ENST00000502213.2_Missense_Mutation_p.A128S	p.A128S	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN			4	655	-			128					D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Missense_Mutation	SNP	ENST00000502213.2	37	c.382G>T	CCDS33973.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.317501	0.23908	.	.	ENSG00000174125	ENST00000308979;ENST00000502213;ENST00000505940	T;T;T	0.16196	2.36;2.36;4.41	4.79	1.83	0.25207	.	1.818630	0.02600	N	0.100916	T	0.16727	0.0402	L	0.43152	1.355	0.09310	N	1	B	0.12013	0.005	B	0.17433	0.018	T	0.24404	-1.0161	10	0.44086	T	0.13	.	4.2721	0.10792	0.2816:0.4938:0.0:0.2245	.	128	Q15399	TLR1_HUMAN	S	128	ENSP00000354932:A128S;ENSP00000421259:A128S;ENSP00000421856:A128S	ENSP00000354932:A128S	A	-	1	0	TLR1	38476466	0.000000	0.05858	0.996000	0.52242	0.554000	0.35429	0.415000	0.21181	0.677000	0.31305	0.655000	0.94253	GCC		0.418	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			46	62	1	0	5.48756e-27	1	6.10351e-27	46	62				
GAA	2548	broad.mit.edu	37	17	78081505	78081505	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr17:78081505G>A	ENST00000302262.3	+	4	1061	c.842G>A	c.(841-843)cGg>cAg	p.R281Q	GAA_ENST00000390015.3_Missense_Mutation_p.R281Q	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	281					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	CTGTGGAACCGGGACCTTGCG	0.692																																						ENST00000302262.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(841-843)cGg>cAg		glucosidase, alpha; acid	Acarbose(DB00284)						41.0	39.0	40.0					17																	78081505		2203	4300	6503	SO:0001583	missense	2548				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	g.chr17:78081505G>A		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.842G>A	17.37:g.78081505G>A	ENSP00000305692:p.Arg281Gln					GAA_ENST00000390015.3_Missense_Mutation_p.R281Q	p.R281Q	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		4	1061	+	all_neural(118;0.117)		281					Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	ENST00000302262.3	37	c.842G>A	CCDS32760.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621300	0.87460	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.86164	-2.08;-2.08	5.08	5.08	0.68730	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.94538	0.8241	M	0.89534	3.04	0.44771	D	0.997777	D	0.89917	1.0	D	0.79108	0.992	D	0.95415	0.8502	10	0.66056	D	0.02	-53.3697	16.6483	0.85182	0.0:0.0:1.0:0.0	.	281	P10253	LYAG_HUMAN	Q	281	ENSP00000305692:R281Q;ENSP00000374665:R281Q	ENSP00000305692:R281Q	R	+	2	0	GAA	75696100	1.000000	0.71417	0.998000	0.56505	0.226000	0.24999	7.869000	0.87170	2.367000	0.80283	0.655000	0.94253	CGG		0.692	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			68	41	0	0	0	1	0	68	41				
ABCC10	89845	broad.mit.edu	37	6	43401078	43401078	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr6:43401078C>T	ENST00000372530.4	+	3	1575	c.1360C>T	c.(1360-1362)Cac>Tac	p.H454Y	ABCC10_ENST00000244533.3_Missense_Mutation_p.H411Y|ABCC10_ENST00000443426.2_3'UTR	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	454	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	AATGCTACAGCACAAGGATGC	0.597																																						ENST00000244533.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(1231-1233)Cac>Tac		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							66.0	56.0	60.0					6																	43401078		2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43401078C>T	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.1360C>T	6.37:g.43401078C>T	ENSP00000361608:p.His454Tyr					ABCC10_ENST00000372530.4_Missense_Mutation_p.H454Y|ABCC10_ENST00000443426.2_3'UTR	p.H411Y	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		1	1590	+	all_lung(25;0.00536)		454			ABC transmembrane type-1 1.		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.1231C>T	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.584203	0.28268	.	.	ENSG00000124574	ENST00000372515;ENST00000372530;ENST00000244533	D;D;D	0.89485	-2.52;-2.52;-2.52	5.5	3.73	0.42828	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.344574	0.35124	N	0.003433	T	0.75774	0.3895	N	0.16903	0.455	0.40637	D	0.981911	B;D	0.59357	0.34;0.985	B;P	0.57468	0.112;0.821	T	0.76383	-0.2979	10	0.02654	T	1	-54.6166	11.9748	0.53085	0.0:0.8597:0.0:0.1403	.	411;454	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	Y	10;454;411	ENSP00000361593:H10Y;ENSP00000361608:H454Y;ENSP00000244533:H411Y	ENSP00000244533:H411Y	H	+	1	0	ABCC10	43509056	0.949000	0.32298	0.772000	0.31596	0.353000	0.29299	2.073000	0.41519	0.703000	0.31848	0.650000	0.86243	CAC		0.597	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		32	23	0	0	0	1	0	32	23				
NBPF10	100132406	broad.mit.edu	37	1	145296373	145296373	+	Missense_Mutation	SNP	G	G	T	rs3969711	byFrequency	TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr1:145296373G>T	ENST00000342960.5	+	3	330	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	99						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.V99F(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TAAAGTCCTAGTTCACTCTCA	0.473																																						ENST00000342960.5																			1	Substitution - Missense(1)	p.V99F(1)	kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(295-297)Gtt>Ttt		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145296373G>T	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.295G>T	1.37:g.145296373G>T	ENSP00000345684:p.Val99Phe					NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.2_Intron	p.V99F	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	3	330	+	all_hematologic(923;0.032)		99					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.295G>T	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	10.07	1.249076	0.22880	.	.	ENSG00000163386	ENST00000369339;ENST00000448873;ENST00000342960	T	0.03889	3.77	1.15	-0.158	0.13383	.	.	.	.	.	T	0.03220	0.0094	M	0.72479	2.2	0.09310	N	1	.	.	.	.	.	.	T	0.38757	-0.9646	7	0.87932	D	0	.	3.0726	0.06236	0.7069:0.0:0.2931:0.0	rs3969711;rs4996270	.	.	.	F	99;24;99	ENSP00000345684:V99F	ENSP00000345684:V99F	V	+	1	0	NBPF10	144007730	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.057000	0.14279	-0.026000	0.13895	0.121000	0.15741	GTT		0.473	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		5	221	1	0	0.184627	1	0.186337	5	221				
FLG	2312	broad.mit.edu	37	1	152287054	152287054	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr1:152287054T>C	ENST00000368799.1	-	3	343	c.308A>G	c.(307-309)aAg>aGg	p.K103R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	103					establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGACTGTGCTTTCTGTGCTT	0.363									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(307-309)aAg>aGg		filaggrin							162.0	158.0	159.0					1																	152287054		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152287054T>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.308A>G	1.37:g.152287054T>C	ENSP00000357789:p.Lys103Arg					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.K103R	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	343	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		103					Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.308A>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	T	11.75	1.732333	0.30684	.	.	ENSG00000143631	ENST00000368799	T	0.00648	5.99	4.68	-7.11	0.01542	.	.	.	.	.	T	0.00109	0.0003	N	0.02539	-0.55	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.31052	-0.9957	9	0.15066	T	0.55	-6.9931	10.081	0.42391	0.0:0.5567:0.1253:0.318	.	103	P20930	FILA_HUMAN	R	103	ENSP00000357789:K103R	ENSP00000357789:K103R	K	-	2	0	FLG	150553678	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.173000	0.01265	-1.430000	0.01985	-1.945000	0.00491	AAG		0.363	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		11	87	0	0	0	1	0	11	87				
UTRN	7402	broad.mit.edu	37	6	144780347	144780347	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr6:144780347T>C	ENST00000367545.3	+	20	2564	c.2564T>C	c.(2563-2565)aTt>aCt	p.I855T		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	855	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CACCCCAAAATTGAAATGGCT	0.498																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(2563-2565)aTt>aCt		utrophin							72.0	67.0	69.0					6																	144780347		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144780347T>C	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.2564T>C	6.37:g.144780347T>C	ENSP00000356515:p.Ile855Thr						p.I855T	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	20	2564	+		Ovarian(120;0.218)	855			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.2564T>C	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	T	12.08	1.829717	0.32329	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.38560	1.13	5.44	5.44	0.79542	.	0.382900	0.21321	N	0.076476	T	0.21718	0.0523	L	0.29908	0.895	0.80722	D	1	P	0.45348	0.856	B	0.38803	0.282	T	0.10847	-1.0612	10	0.87932	D	0	.	15.8043	0.78481	0.0:0.0:0.0:1.0	.	855	P46939	UTRO_HUMAN	T	855	ENSP00000356515:I855T	ENSP00000356499:I855T	I	+	2	0	UTRN	144822040	0.949000	0.32298	0.470000	0.27216	0.154000	0.21943	3.530000	0.53539	2.197000	0.70478	0.528000	0.53228	ATT		0.498	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			11	56	0	0	0	1	0	11	56				
CCL14	6358	broad.mit.edu	37	17	34310906	34310906	+	Silent	SNP	G	G	A			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr17:34310906G>A	ENST00000394509.4	-	3	321	c.213C>T	c.(211-213)ggC>ggT	p.G71G	CCL14_ENST00000480944.2_Silent_p.G93G|CCL14_ENST00000536149.1_Silent_p.G87G|CCL14_ENST00000586216.1_3'UTR|CCL14_ENST00000435911.2_Silent_p.G87G|CCL15-CCL14_ENST00000481427.2_3'UTR|CCL16_ENST00000293275.3_5'Flank|CTB-186H2.3_ENST00000593057.1_Intron|CTB-186H2.3_ENST00000591669.1_5'Flank			Q16627	CCL14_HUMAN	chemokine (C-C motif) ligand 14	71					cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|immune response (GO:0006955)|positive regulation of cell proliferation (GO:0008284)	extracellular space (GO:0005615)				large_intestine(1)|lung(6)	7		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGACGGAATGGCCCCTTTTGG	0.557																																						ENST00000480944.2																			0				large_intestine(1)|lung(6)	7						c.(277-279)ggC>ggT		chemokine (C-C motif) ligand 14							145.0	113.0	124.0					17																	34310906		2203	4300	6503	SO:0001819	synonymous_variant	6358				cellular calcium ion homeostasis|immune response|positive regulation of cell proliferation	extracellular space	chemokine activity|signal transducer activity	g.chr17:34310906G>A	Z49270	CCDS32624.1, CCDS45652.1	17q11.2	2014-04-10	2002-08-22	2002-08-23	ENSG00000213494	ENSG00000276409		"""Chemokine ligands"", ""Endogenous ligands"""	10612	protein-coding gene	gene with protein product		601392	"""small inducible cytokine subfamily A (Cys-Cys), member 14"""	SCYA14		8661057	Standard	NM_032963		Approved	HCC-1, HCC-3, NCC-2, SCYL2, CKb1, MCIF	uc010wcq.1	Q16627	OTTHUMG00000188403	ENST00000394509.4:c.213C>T	17.37:g.34310906G>A						CCL15-CCL14_ENST00000481427.2_3'UTR|CTB-186H2.3_ENST00000593057.1_Intron|CCL14_ENST00000536149.1_Silent_p.G87G|CCL14_ENST00000394509.4_Silent_p.G71G|CCL14_ENST00000586216.1_3'UTR|CCL14_ENST00000435911.2_Silent_p.G87G	p.G93G			Q16627	CCL14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	2685	-		Ovarian(249;0.17)	71					E1P649|E1P650|Q13954	Silent	SNP	ENST00000394509.4	37	c.279C>T	CCDS32624.1																																																																																				0.557	CCL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272892.2	NM_032962		5	52	0	0	0	1	0	5	52				
PTPRO	5800	broad.mit.edu	37	12	15704527	15704527	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr12:15704527C>T	ENST00000281171.4	+	15	2810	c.2480C>T	c.(2479-2481)gCc>gTc	p.A827V	PTPRO_ENST00000542557.1_Missense_Mutation_p.A16V|PTPRO_ENST00000442921.2_Missense_Mutation_p.A16V|PTPRO_ENST00000348962.2_Missense_Mutation_p.A827V|PTPRO_ENST00000544244.1_Missense_Mutation_p.A16V|PTPRO_ENST00000445537.2_Missense_Mutation_p.A16V	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	827					axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TCCGTGCTGGCCATCCTTAGC	0.383																																						ENST00000281171.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(2479-2481)gCc>gTc		protein tyrosine phosphatase, receptor type, O							287.0	250.0	263.0					12																	15704527		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15704527C>T	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.2480C>T	12.37:g.15704527C>T	ENSP00000281171:p.Ala827Val					PTPRO_ENST00000544244.1_Missense_Mutation_p.A16V|PTPRO_ENST00000445537.2_Missense_Mutation_p.A16V|PTPRO_ENST00000442921.2_Missense_Mutation_p.A16V|PTPRO_ENST00000542557.1_Missense_Mutation_p.A16V|PTPRO_ENST00000348962.2_Missense_Mutation_p.A827V	p.A827V	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN			15	2810	+		Hepatocellular(102;0.244)	827					A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.2480C>T	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	C	33	5.238318	0.95240	.	.	ENSG00000151490	ENST00000281171;ENST00000348962;ENST00000442921;ENST00000542557;ENST00000445537;ENST00000544244	T;T;T;T;T;T	0.05258	3.56;3.75;3.47;3.75;3.47;3.75	5.2	5.2	0.72013	.	0.000000	0.48767	D	0.000179	T	0.14356	0.0347	N	0.24115	0.695	0.53005	D	0.999965	D;D;D	0.63880	0.993;0.986;0.976	D;P;P	0.72625	0.978;0.88;0.761	T	0.24476	-1.0159	10	0.25106	T	0.35	.	18.921	0.92525	0.0:1.0:0.0:0.0	.	16;827;827	Q9UBT5;Q16827-2;Q16827	.;.;PTPRO_HUMAN	V	827;827;16;16;16;16	ENSP00000281171:A827V;ENSP00000343434:A827V;ENSP00000404188:A16V;ENSP00000437571:A16V;ENSP00000393449:A16V;ENSP00000439234:A16V	ENSP00000281171:A827V	A	+	2	0	PTPRO	15595794	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.784000	0.75084	2.693000	0.91896	0.563000	0.77884	GCC		0.383	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			4	116	0	0	0	1	0	4	116				
NSUN3	63899	broad.mit.edu	37	3	93813928	93813928	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr3:93813928G>A	ENST00000314622.4	+	5	884	c.673G>A	c.(673-675)Gac>Aac	p.D225N		NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	225							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						GTTTTCTTCTGACTCTCAGAA	0.383																																						ENST00000314622.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						c.(673-675)Gac>Aac		NOP2/Sun domain family, member 3							177.0	162.0	167.0					3																	93813928		2203	4300	6503	SO:0001583	missense	63899						methyltransferase activity	g.chr3:93813928G>A	BC020602	CCDS2927.1	3q11.2	2009-11-23	2009-11-23		ENSG00000178694	ENSG00000178694		"""NOP2/Sun domain containing"""	26208	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 3"", ""NOL1/NOP2/Sun domain family, member 3"""			12477932	Standard	NM_022072		Approved	FLJ22609	uc003drl.1	Q9H649	OTTHUMG00000159025	ENST00000314622.4:c.673G>A	3.37:g.93813928G>A	ENSP00000318986:p.Asp225Asn						p.D225N	NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN			5	884	+			225					Q6PG41|Q8IXG9|Q9H6M2	Missense_Mutation	SNP	ENST00000314622.4	37	c.673G>A	CCDS2927.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478203	0.63849	.	.	ENSG00000178694	ENST00000314622	T	0.13657	2.57	5.93	5.93	0.95920	Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p (1);	0.193864	0.56097	D	0.000040	T	0.16342	0.0393	L	0.41632	1.29	0.45161	D	0.998174	B	0.21606	0.058	B	0.23574	0.047	T	0.03514	-1.1029	10	0.34782	T	0.22	-14.7808	20.3465	0.98790	0.0:0.0:1.0:0.0	.	225	Q9H649	NSUN3_HUMAN	N	225	ENSP00000318986:D225N	ENSP00000318986:D225N	D	+	1	0	NSUN3	95296618	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	5.467000	0.66737	2.798000	0.96311	0.655000	0.94253	GAC		0.383	NSUN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352934.1	NM_022072		18	30	0	0	0	1	0	18	30				
FER	2241	broad.mit.edu	37	5	108203563	108203563	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr5:108203563C>T	ENST00000281092.4	+	6	961	c.577C>T	c.(577-579)Cag>Tag	p.Q193*	FER_ENST00000438717.2_Nonsense_Mutation_p.Q18*|FER_ENST00000536402.1_Nonsense_Mutation_p.Q193*	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	193	Important for interaction with membranes containing phosphoinositides.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GAAAGGGGCACAGCTCCATCA	0.403																																					Colon(146;1051 1799 9836 27344 47401)	ENST00000281092.4																			0				NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32						c.(577-579)Cag>Tag		fer (fps/fes related) tyrosine kinase							164.0	130.0	141.0					5																	108203563		2202	4300	6502	SO:0001587	stop_gained	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108203563C>T	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.577C>T	5.37:g.108203563C>T	ENSP00000281092:p.Gln193*					FER_ENST00000438717.2_Nonsense_Mutation_p.Q18*|FER_ENST00000536402.1_Nonsense_Mutation_p.Q193*	p.Q193*	NM_005246.2	NP_005237.2	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	6	961	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)	193			Important for interaction with membranes containing phosphoinositides.		B2RCR4|B4DSQ2|H2FLB8	Nonsense_Mutation	SNP	ENST00000281092.4	37	c.577C>T	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	C	40	7.955750	0.98580	.	.	ENSG00000151422	ENST00000281092;ENST00000536402;ENST00000438717	.	.	.	5.53	5.53	0.82687	.	0.162254	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-12.8252	19.8293	0.96628	0.0:1.0:0.0:0.0	.	.	.	.	X	193;193;18	.	ENSP00000281092:Q193X	Q	+	1	0	FER	108231462	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.561000	0.67339	2.749000	0.94314	0.655000	0.94253	CAG		0.403	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		7	32	0	0	0	1	0	7	32				
MEMO1	51072	broad.mit.edu	37	2	32108519	32108519	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr2:32108519C>G	ENST00000295065.5	-	7	902	c.593G>C	c.(592-594)cGt>cCt	p.R198P	MEMO1_ENST00000490459.1_Intron|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000404530.1_Missense_Mutation_p.R198P|MEMO1_ENST00000426310.2_Missense_Mutation_p.R175P|MEMO1_ENST00000379383.3_Missense_Mutation_p.R201P	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1	198					regulation of microtubule-based process (GO:0032886)	cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					GTAACTGTAACGGAACCTTTG	0.338																																						ENST00000295065.4																			0				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17						c.(592-594)cGt>cCt		mediator of cell motility 1							152.0	174.0	167.0					2																	32108519		2203	4298	6501	SO:0001583	missense	51072				regulation of microtubule-based process	cytosol|nucleus		g.chr2:32108519C>G	AF132961	CCDS1776.1, CCDS46255.1	2p22-p21	2010-05-24	2007-02-12	2007-02-12	ENSG00000162959	ENSG00000162959			14014	protein-coding gene	gene with protein product		611786	"""chromosome 2 open reading frame 4"""	C2orf4		15156151	Standard	NM_015955		Approved	CGI-27, MEMO	uc002rnx.3	Q9Y316	OTTHUMG00000128453	ENST00000295065.5:c.593G>C	2.37:g.32108519C>G	ENSP00000295065:p.Arg198Pro					MEMO1_ENST00000404530.1_Missense_Mutation_p.R198P|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000490459.1_Intron|MEMO1_ENST00000379383.3_Missense_Mutation_p.R201P|MEMO1_ENST00000426310.2_Missense_Mutation_p.R175P	p.R198P	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN			7	902	-	Acute lymphoblastic leukemia(172;0.155)		198					B4DLS0|D6W575|Q5R2V8|Q5R2V9|Q6NSL5	Missense_Mutation	SNP	ENST00000295065.5	37	c.593G>C	CCDS1776.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564485	0.65651	.	.	ENSG00000162959	ENST00000295065;ENST00000379383;ENST00000404530;ENST00000426310	.	.	.	5.31	5.31	0.75309	.	0.144534	0.64402	D	0.000005	T	0.73690	0.3619	M	0.79926	2.475	0.80722	D	1	P;B	0.40083	0.702;0.391	P;P	0.46758	0.526;0.508	T	0.75795	-0.3192	9	0.51188	T	0.08	-1.4316	18.9345	0.92580	0.0:1.0:0.0:0.0	.	175;198	Q9Y316-2;Q9Y316	.;MEMO1_HUMAN	P	198;201;198;175	.	ENSP00000295065:R198P	R	-	2	0	MEMO1	31962023	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.942000	0.70203	2.657000	0.90304	0.585000	0.79938	CGT		0.338	MEMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250251.2	NM_015955		61	126	0	0	0	1	0	61	126				
ARHGEF11	9826	broad.mit.edu	37	1	157014118	157014118	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr1:157014118C>G	ENST00000361409.2	-	1	747	c.5G>C	c.(4-6)aGt>aCt	p.S2T	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.S2T	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	2					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TAACCTTACACTCATGGTTTC	0.433																																						ENST00000368194.3																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81						c.(4-6)aGt>aCt		Rho guanine nucleotide exchange factor (GEF) 11							227.0	219.0	222.0					1																	157014118		2203	4300	6503	SO:0001583	missense	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:157014118C>G	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.5G>C	1.37:g.157014118C>G	ENSP00000354644:p.Ser2Thr					ARHGEF11_ENST00000361409.2_Missense_Mutation_p.S2T	p.S2T	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN			1	1044	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		2					D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	c.5G>C	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508911	0.44660	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	T;T	0.68765	-0.34;-0.35	4.58	4.58	0.56647	.	1.771960	0.02995	N	0.147344	T	0.55529	0.1926	N	0.19112	0.55	0.80722	D	1	P;D	0.56035	0.956;0.974	P;D	0.67725	0.899;0.953	T	0.62196	-0.6905	10	0.02654	T	1	19.779	13.0572	0.58988	0.0:1.0:0.0:0.0	.	2;2	O15085;O15085-2	ARHGB_HUMAN;.	T	2	ENSP00000357177:S2T;ENSP00000354644:S2T	ENSP00000354644:S2T	S	-	2	0	ARHGEF11	155280742	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.952000	0.40343	2.519000	0.84933	0.655000	0.94253	AGT		0.433	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		60	49	0	0	0	1	0	60	49				
ZNF560	147741	broad.mit.edu	37	19	9578448	9578448	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr19:9578448A>G	ENST00000301480.4	-	10	1388	c.1175T>C	c.(1174-1176)cTt>cCt	p.L392P		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	392					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TACATGTTCAAGAAAGCCTGA	0.428																																						ENST00000301480.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(1174-1176)cTt>cCt		zinc finger protein 560							119.0	119.0	119.0					19																	9578448		2203	4300	6503	SO:0001583	missense	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9578448A>G	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.1175T>C	19.37:g.9578448A>G	ENSP00000301480:p.Leu392Pro						p.L392P	NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN			10	1388	-			392					Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	c.1175T>C	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	A	9.083	0.999759	0.19121	.	.	ENSG00000198028	ENST00000301480	T	0.19250	2.16	2.05	-4.11	0.03928	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25158	0.0611	M	0.71581	2.175	0.09310	N	0.999999	D	0.56035	0.974	P	0.51055	0.657	T	0.02743	-1.1116	9	0.33940	T	0.23	.	3.5506	0.07844	0.4483:0.0:0.1969:0.3547	.	392	Q96MR9	ZN560_HUMAN	P	392	ENSP00000301480:L392P	ENSP00000301480:L392P	L	-	2	0	ZNF560	9439448	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-2.874000	0.00718	-2.119000	0.00827	-0.415000	0.06103	CTT		0.428	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		35	56	0	0	0	1	0	35	56				
ONECUT2	9480	broad.mit.edu	37	18	55102969	55102969	+	Silent	SNP	C	C	G			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr18:55102969C>G	ENST00000491143.2	+	1	53	c.21C>G	c.(19-21)gcC>gcG	p.A7A	AC090340.1_ENST00000581316.1_RNA	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	7					cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		CCTACACCGCCTATCGATGCC	0.721																																						ENST00000491143.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15						c.(19-21)gcC>gcG		one cut homeobox 2							13.0	14.0	13.0					18																	55102969		1727	3862	5589	SO:0001819	synonymous_variant	9480				organ morphogenesis	nucleus	sequence-specific DNA binding	g.chr18:55102969C>G	Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547		"""Homeoboxes / CUT class"""	8139	protein-coding gene	gene with protein product		604894	"""one cut domain, family member 2"""			9915796	Standard	NM_004852		Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.21C>G	18.37:g.55102969C>G							p.A7A	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)	1	53	+		Colorectal(73;0.234)	7						Silent	SNP	ENST00000491143.2	37	c.21C>G	CCDS42440.1																																																																																				0.721	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357264.3			8	20	0	0	0	1	0	8	20				
USP25	29761	broad.mit.edu	37	21	17250147	17250147	+	Silent	SNP	A	A	G			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr21:17250147A>G	ENST00000285679.6	+	23	3201	c.2832A>G	c.(2830-2832)gaA>gaG	p.E944E	USP25_ENST00000400183.2_Silent_p.E1014E|USP25_ENST00000351097.5_Silent_p.E339E|USP25_ENST00000285681.2_Silent_p.E976E	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	944					cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		AACTCTTCGAATCTGGAGAGG	0.333																																						ENST00000285681.2																			0				breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52						c.(2926-2928)gaA>gaG		ubiquitin specific peptidase 25							90.0	91.0	91.0					21																	17250147		2203	4300	6503	SO:0001819	synonymous_variant	29761				protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr21:17250147A>G	AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.2832A>G	21.37:g.17250147A>G						USP25_ENST00000285679.6_Silent_p.E944E|USP25_ENST00000351097.5_Silent_p.E339E|USP25_ENST00000400183.2_Silent_p.E1014E	p.E976E			Q9UHP3	UBP25_HUMAN		Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)	24	3297	+			944					C0LSZ0|Q6DHZ9|Q9H9W1	Silent	SNP	ENST00000285679.6	37	c.2928A>G	CCDS33515.1																																																																																				0.333	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			8	12	0	0	0	1	0	8	12				
CACNA1A	773	broad.mit.edu	37	19	13470526	13470526	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr19:13470526C>A	ENST00000360228.5	-	6	871	c.872G>T	c.(871-873)tGg>tTg	p.W291L	CACNA1A_ENST00000573710.2_Missense_Mutation_p.W291L	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	291					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GGGCCCTTCCCAGTAGGGCTG	0.547																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(871-873)tGg>tTg		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						83.0	77.0	79.0					19																	13470526		1992	4168	6160	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13470526C>A	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.872G>T	19.37:g.13470526C>A	ENSP00000353362:p.Trp291Leu					CACNA1A_ENST00000573710.2_Missense_Mutation_p.W291L	p.W291L	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		6	871	-			291					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.872G>T	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859551	0.71834	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.96587	-4.06	5.42	5.42	0.78866	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98469	0.9490	M	0.90369	3.11	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	D	0.99548	1.0965	10	0.87932	D	0	.	18.0236	0.89262	0.0:1.0:0.0:0.0	.	291;291	O00555;Q9NS88	CAC1A_HUMAN;.	L	291	ENSP00000353362:W291L	ENSP00000317661:W291L	W	-	2	0	CACNA1A	13331526	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.614000	0.82996	2.542000	0.85734	0.655000	0.94253	TGG		0.547	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		5	4	1	0	0.00116845	1	0.00121296	5	4				
GCSAML	148823	broad.mit.edu	37	1	247737614	247737614	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr1:247737614T>G	ENST00000366488.4	+	5	442	c.338T>G	c.(337-339)cTt>cGt	p.L113R	GCSAML_ENST00000463359.1_Missense_Mutation_p.L81R|GCSAML_ENST00000536561.1_Missense_Mutation_p.L93R|GCSAML_ENST00000527541.1_Missense_Mutation_p.L81R|GCSAML_ENST00000366489.1_Missense_Mutation_p.L93R|GCSAML_ENST00000366491.2_Missense_Mutation_p.L93R|RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000527084.1_Missense_Mutation_p.L81R	NM_001281836.1|NM_001281837.1|NM_001281853.1|NM_145278.3	NP_001268765.1|NP_001268766.1|NP_001268782.1|NP_660321.1	Q5JQS6	GSAML_HUMAN	germinal center-associated, signaling and motility-like	113																	TATGCCCTTCTTAGGACTTCT	0.448																																						ENST00000366491.2																			0											c.(277-279)cTt>cGt		germinal center-associated, signaling and motility-like							153.0	128.0	137.0					1																	247737614		2203	4300	6503	SO:0001583	missense	148823							g.chr1:247737614T>G	AK126682	CCDS1635.1, CCDS60470.1, CCDS73058.1	1q44	2012-08-23	2012-08-23	2012-08-23	ENSG00000169224	ENSG00000169224			29583	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 150"""	C1orf150			Standard	NM_001281834		Approved	FLJ44728	uc001idf.3	Q5JQS6	OTTHUMG00000040648	ENST00000366488.4:c.338T>G	1.37:g.247737614T>G	ENSP00000355444:p.Leu113Arg					GCSAML_ENST00000366489.1_Missense_Mutation_p.L93R|GCSAML_ENST00000463359.1_Missense_Mutation_p.L81R|RP11-978I15.10_ENST00000446347.1_RNA|GCSAML_ENST00000366488.4_Missense_Mutation_p.L113R|GCSAML_ENST00000527084.1_Missense_Mutation_p.L81R|GCSAML_ENST00000536561.1_Missense_Mutation_p.L93R|GCSAML_ENST00000527541.1_Missense_Mutation_p.L81R|RP11-978I15.10_ENST00000435333.1_RNA	p.L93R							7	775	+								B2R4Y5|B3KX46|Q5JQT3	Missense_Mutation	SNP	ENST00000366488.4	37	c.278T>G	CCDS1635.1	.	.	.	.	.	.	.	.	.	.	T	15.27	2.784142	0.49997	.	.	ENSG00000169224	ENST00000527084;ENST00000527541;ENST00000366491;ENST00000366489;ENST00000463359;ENST00000366488;ENST00000536561	.	.	.	3.91	3.91	0.45181	.	0.770342	0.10638	N	0.651313	T	0.57431	0.2053	L	0.58101	1.795	0.09310	N	1	D	0.76494	0.999	D	0.65773	0.938	T	0.43294	-0.9400	9	0.87932	D	0	-0.4299	9.3232	0.37977	0.0:0.0:0.0:1.0	.	113	Q5JQS6	CA150_HUMAN	R	81;81;93;93;81;113;93	.	ENSP00000355444:L113R	L	+	2	0	C1orf150	245804237	0.045000	0.20229	0.092000	0.20876	0.699000	0.40488	1.973000	0.40550	1.775000	0.52247	0.482000	0.46254	CTT		0.448	GCSAML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097745.4	NM_145278		18	61	0	0	0	1	0	18	61				
LRRIQ4	344657	broad.mit.edu	37	3	169540472	169540472	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr3:169540472G>A	ENST00000340806.6	+	1	763	c.763G>A	c.(763-765)Gag>Aag	p.E255K		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	255										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GAGCTTCGCCGAGCTCAGGAA	0.607																																						ENST00000340806.6																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(763-765)Gag>Aag		leucine-rich repeats and IQ motif containing 4							33.0	36.0	35.0					3																	169540472		1994	4159	6153	SO:0001583	missense	344657							g.chr3:169540472G>A		CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.763G>A	3.37:g.169540472G>A	ENSP00000342188:p.Glu255Lys						p.E255K	NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN			1	763	+			255						Missense_Mutation	SNP	ENST00000340806.6	37	c.763G>A	CCDS46951.1	.	.	.	.	.	.	.	.	.	.	G	8.002	0.755540	0.15846	.	.	ENSG00000188306	ENST00000340806	T	0.56275	0.47	5.56	0.0324	0.14175	.	1.620940	0.03327	N	0.192807	T	0.23688	0.0573	N	0.02854	-0.475	0.09310	N	1	B	0.31655	0.334	B	0.20955	0.032	T	0.19257	-1.0311	10	0.05721	T	0.95	.	9.5188	0.39122	0.1905:0.534:0.2755:0.0	.	255	A6NIV6	LRIQ4_HUMAN	K	255	ENSP00000342188:E255K	ENSP00000342188:E255K	E	+	1	0	LRRIQ4	171023166	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.155000	0.16362	-0.357000	0.08175	0.462000	0.41574	GAG		0.607	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460		95	21	0	0	0	1	0	95	21				
UBL4A	8266	broad.mit.edu	37	X	153714147	153714147	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chrX:153714147G>A	ENST00000369660.4	-	3	411	c.326C>T	c.(325-327)gCg>gTg	p.A109V	UBL4A_ENST00000477777.1_5'UTR|UBL4A_ENST00000369653.4_Missense_Mutation_p.A109V	NM_014235.3	NP_055050.1	P11441	UBL4A_HUMAN	ubiquitin-like 4A	109					cellular protein modification process (GO:0006464)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)	small conjugating protein ligase activity (GO:0019787)	p.A109V(1)		endometrium(5)|lung(1)|urinary_tract(1)	7	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCATCTGCCGCACTGAAGTG	0.622																																					Esophageal Squamous(74;88 1215 11149 34177 46777)	ENST00000369660.4																			1	Substitution - Missense(1)	p.A109V(1)	endometrium(1)	endometrium(5)|lung(1)|urinary_tract(1)	7						c.(325-327)gCg>gTg		ubiquitin-like 4A							86.0	91.0	89.0					X																	153714147		2203	4300	6503	SO:0001583	missense	8266				protein modification process|tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	small conjugating protein ligase activity	g.chrX:153714147G>A	J03589	CCDS14754.1	Xq28	2010-08-05	2005-09-27	2005-09-27	ENSG00000102178	ENSG00000102178			12505	protein-coding gene	gene with protein product		312070	"""ubiquitin-like 4"""	UBL4		2829204, 16872915	Standard	NM_014235		Approved	GDX, DXS254E, GET5, MDY2, TMA24	uc004flo.3	P11441	OTTHUMG00000013370	ENST00000369660.4:c.326C>T	X.37:g.153714147G>A	ENSP00000358674:p.Ala109Val					UBL4A_ENST00000369653.4_Missense_Mutation_p.A109V|UBL4A_ENST00000477777.1_5'UTR	p.A109V	NM_014235.3	NP_055050.1	P11441	UBL4A_HUMAN			3	411	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		109					Q5HY80	Missense_Mutation	SNP	ENST00000369660.4	37	c.326C>T	CCDS14754.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383184	0.42207	.	.	ENSG00000102178	ENST00000369660;ENST00000369653	T;T	0.46063	0.94;0.88	4.76	3.61	0.41365	.	0.379891	0.29046	N	0.013318	T	0.27419	0.0673	L	0.33485	1.01	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15235	-1.0444	10	0.40728	T	0.16	-6.0642	4.5941	0.12322	0.1559:0.204:0.6401:0.0	.	109	P11441	UBL4A_HUMAN	V	109	ENSP00000358674:A109V;ENSP00000358667:A109V	ENSP00000358667:A109V	A	-	2	0	UBL4A	153367341	0.023000	0.18921	0.003000	0.11579	0.976000	0.68499	1.836000	0.39191	0.839000	0.34971	0.529000	0.55759	GCG		0.622	UBL4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037238.2	NM_014235		62	111	0	0	0	1	0	62	111				
UNC119	9094	broad.mit.edu	37	17	26875096	26875096	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr17:26875096C>T	ENST00000335765.4	-	3	468	c.358G>A	c.(358-360)Gac>Aac	p.D120N	UNC119_ENST00000470125.1_Missense_Mutation_p.D25N|UNC119_ENST00000484980.1_Missense_Mutation_p.D25N|UNC119_ENST00000301032.4_Missense_Mutation_p.D120N	NM_005148.3	NP_005139.1	Q13432	U119A_HUMAN	unc-119 homolog (C. elegans)	120					cytokinesis, completion of separation (GO:0007109)|endocytosis (GO:0006897)|lipoprotein transport (GO:0042953)|negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of clathrin-mediated endocytosis (GO:1900186)|phototransduction (GO:0007602)|positive regulation of protein tyrosine kinase activity (GO:0061098)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	centrosome (GO:0005813)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	lipid binding (GO:0008289)			breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	7	Lung NSC(42;0.00431)					GGGTCCAGGTCCCGCCGGTTG	0.652											OREG0024277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000484980.1																			0				breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	7						c.(73-75)Gac>Aac		unc-119 homolog (C. elegans)							38.0	37.0	37.0					17																	26875096		2203	4300	6503	SO:0001583	missense	9094				phototransduction|synaptic transmission|visual perception	cytosol|soluble fraction		g.chr17:26875096C>T	U40998	CCDS11233.1, CCDS11234.1	17q11.2	2014-09-17	2001-11-28		ENSG00000109103	ENSG00000109103			12565	protein-coding gene	gene with protein product	"""POC7 centriolar protein homolog A (Chlamydomonas)"""	604011	"""unc119 (C.elegans) homolog"""			8576185, 9538874	Standard	NM_005148		Approved	HRG4, POC7, POC7A	uc002hbk.2	Q13432	OTTHUMG00000132606	ENST00000335765.4:c.358G>A	17.37:g.26875096C>T	ENSP00000337040:p.Asp120Asn		OREG0024277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	790	UNC119_ENST00000470125.1_Missense_Mutation_p.D25N|UNC119_ENST00000301032.4_Missense_Mutation_p.D120N|UNC119_ENST00000335765.4_Missense_Mutation_p.D120N	p.D25N			Q13432	U119A_HUMAN			2	3234	-	Lung NSC(42;0.00431)		120					A8K8G4|F1T095|O95126	Missense_Mutation	SNP	ENST00000335765.4	37	c.73G>A	CCDS11233.1	.	.	.	.	.	.	.	.	.	.	C	34	5.313351	0.95655	.	.	ENSG00000109103	ENST00000335765;ENST00000301032;ENST00000444148	T;T;T	0.78126	-1.13;-1.15;-1.15	5.81	5.81	0.92471	Immunoglobulin E-set (1);	0.190919	0.53938	D	0.000060	D	0.86372	0.5917	M	0.83312	2.635	0.80722	D	1	P;P	0.48503	0.911;0.715	P;P	0.53401	0.725;0.586	D	0.87033	0.2136	10	0.54805	T	0.06	-28.3987	18.2592	0.90028	0.0:1.0:0.0:0.0	.	120;120	F1T095;Q13432	.;U119A_HUMAN	N	120;120;113	ENSP00000337040:D120N;ENSP00000301032:D120N;ENSP00000414639:D113N	ENSP00000301032:D120N	D	-	1	0	UNC119	23899223	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.370000	0.79589	2.757000	0.94681	0.462000	0.41574	GAC		0.652	UNC119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255842.2			35	2	0	0	0	1	0	35	2				
TRIM5	85363	broad.mit.edu	37	11	5701143	5701143	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr11:5701143C>T	ENST00000380034.3	-	2	521	c.265G>A	c.(265-267)Ggg>Agg	p.G89R	TRIM5_ENST00000380027.1_Missense_Mutation_p.G89R|TRIM5_ENST00000396855.3_Missense_Mutation_p.G89R|TRIM5_ENST00000396847.3_Missense_Mutation_p.G89R|TRIM5_ENST00000305836.5_Missense_Mutation_p.G89R|TRIM5_ENST00000483835.1_5'Flank|TRIM5_ENST00000396853.4_Missense_Mutation_p.G89R	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	89					activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		ACTTTCTGCCCCTCTGGGCTC	0.532																																						ENST00000305836.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(265-267)Ggg>Agg		tripartite motif containing 5							164.0	147.0	153.0					11																	5701143		2201	4297	6498	SO:0001583	missense	85363				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	g.chr11:5701143C>T	AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16276	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM5"", ""tripartite motif protein TRIM"""	608487	"""tripartite motif-containing 5"""			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.265G>A	11.37:g.5701143C>T	ENSP00000369373:p.Gly89Arg					TRIM5_ENST00000380034.3_Missense_Mutation_p.G89R|TRIM5_ENST00000380027.1_Missense_Mutation_p.G89R|TRIM5_ENST00000396847.3_Missense_Mutation_p.G89R|TRIM5_ENST00000396853.4_Missense_Mutation_p.G89R|TRIM5_ENST00000396855.3_Missense_Mutation_p.G89R	p.G89R			Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	2	567	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	89					A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Missense_Mutation	SNP	ENST00000380034.3	37	c.265G>A	CCDS31393.1	.	.	.	.	.	.	.	.	.	.	C	5.117	0.207146	0.09704	.	.	ENSG00000132256	ENST00000396855;ENST00000305836;ENST00000380034;ENST00000380027;ENST00000396847;ENST00000396853;ENST00000412903	T;T;T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45;0.45;0.45	4.07	2.17	0.27698	Zinc finger, RING/FYVE/PHD-type (1);	1.254190	0.05630	N	0.581509	T	0.42810	0.1219	N	0.25485	0.75	0.09310	N	1	B;B;B	0.20368	0.044;0.016;0.021	B;B;B	0.26693	0.072;0.042;0.019	T	0.40608	-0.9554	10	0.52906	T	0.07	.	7.8066	0.29206	0.0:0.7407:0.1644:0.0949	.	89;89;89	Q9C035-3;Q9C035-4;Q9C035	.;.;TRIM5_HUMAN	R	89	ENSP00000380064:G89R;ENSP00000307031:G89R;ENSP00000369373:G89R;ENSP00000369366:G89R;ENSP00000380058:G89R;ENSP00000380062:G89R;ENSP00000388031:G89R	ENSP00000307031:G89R	G	-	1	0	TRIM5	5657719	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.016000	0.13377	0.662000	0.31006	-0.157000	0.13467	GGG		0.532	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		5	71	0	0	0	1	0	5	71				
ZFX	7543	broad.mit.edu	37	X	24225888	24225888	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chrX:24225888G>A	ENST00000379177.1	+	8	1283	c.856G>A	c.(856-858)Gat>Aat	p.D286N	ZFX_ENST00000379188.3_Missense_Mutation_p.D286N|ZFX_ENST00000304543.5_Missense_Mutation_p.D286N|ZFX_ENST00000459724.1_3'UTR|ZFX_ENST00000539115.1_Missense_Mutation_p.D57N|ZFX_ENST00000540034.1_Missense_Mutation_p.D325N|ZFX_ENST00000338565.3_Missense_Mutation_p.D236N	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	286					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						TGAACTGCTTGATCAGAACAG	0.408																																					Esophageal Squamous(20;306 562 7346 32868 37983)	ENST00000379177.1																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						c.(856-858)Gat>Aat		zinc finger protein, X-linked							242.0	194.0	210.0					X																	24225888		2203	4300	6503	SO:0001583	missense	7543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chrX:24225888G>A		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.856G>A	X.37:g.24225888G>A	ENSP00000368475:p.Asp286Asn					ZFX_ENST00000459724.1_3'UTR|ZFX_ENST00000540034.1_Missense_Mutation_p.D325N|ZFX_ENST00000304543.5_Missense_Mutation_p.D286N|ZFX_ENST00000338565.3_Missense_Mutation_p.D236N|ZFX_ENST00000539115.1_Missense_Mutation_p.D57N|ZFX_ENST00000379188.3_Missense_Mutation_p.D286N	p.D286N	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN			8	1283	+			286					B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP	ENST00000379177.1	37	c.856G>A	CCDS14211.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.772610	0.69992	.	.	ENSG00000005889	ENST00000539115;ENST00000379188;ENST00000535562;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565;ENST00000545937	T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69	5.62	5.62	0.85841	Transcriptional activator, Zfx / Zfy domain (1);	0.076785	0.53938	D	0.000058	T	0.47544	0.1451	M	0.68593	2.085	0.43959	D	0.996631	B;B;B	0.29188	0.022;0.003;0.236	B;B;B	0.28784	0.065;0.009;0.094	T	0.48969	-0.8987	10	0.54805	T	0.06	-19.1525	13.1425	0.59442	0.078:0.0:0.922:0.0	.	325;286;290	B9EG97;P17010;Q59EB9	.;ZFX_HUMAN;.	N	57;286;55;286;286;325;236;81	ENSP00000438233:D57N;ENSP00000368486:D286N;ENSP00000368475:D286N;ENSP00000304985:D286N;ENSP00000441382:D325N;ENSP00000343384:D236N	ENSP00000304985:D286N	D	+	1	0	ZFX	24135809	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.100000	0.71473	2.501000	0.84356	0.594000	0.82650	GAT		0.408	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410		28	65	0	0	0	1	0	28	65				
FBN3	84467	broad.mit.edu	37	19	8206865	8206865	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr19:8206865C>T	ENST00000600128.1	-	7	1112	c.698G>A	c.(697-699)cGc>cAc	p.R233H	FBN3_ENST00000270509.2_Missense_Mutation_p.R233H|FBN3_ENST00000601739.1_Missense_Mutation_p.R233H			Q75N90	FBN3_HUMAN	fibrillin 3	233	TB 1.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GAAGCCGCGGCGGCAGGGGTG	0.637																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(697-699)cGc>cAc		fibrillin 3							29.0	35.0	33.0					19																	8206865		2202	4300	6502	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8206865C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.698G>A	19.37:g.8206865C>T	ENSP00000470498:p.Arg233His					FBN3_ENST00000270509.2_Missense_Mutation_p.R233H|FBN3_ENST00000601739.1_Missense_Mutation_p.R233H	p.R233H			Q75N90	FBN3_HUMAN			7	1112	-			233			TB 1.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.698G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	c	20.5	4.000705	0.74818	.	.	ENSG00000142449	ENST00000270509	D	0.92752	-3.1	3.95	3.95	0.45737	Matrix fibril-associated (3);	0.000000	0.64402	U	0.000001	D	0.93772	0.8009	L	0.47716	1.5	0.40321	D	0.978821	D	0.89917	1.0	D	0.68765	0.96	D	0.94117	0.7376	10	0.49607	T	0.09	.	15.1368	0.72572	0.0:1.0:0.0:0.0	.	233	Q75N90	FBN3_HUMAN	H	233	ENSP00000270509:R233H	ENSP00000270509:R233H	R	-	2	0	FBN3	8112865	1.000000	0.71417	0.966000	0.40874	0.962000	0.63368	4.491000	0.60326	2.028000	0.59812	0.491000	0.48974	CGC		0.637	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		20	51	0	0	0	1	0	20	51				
PPIG	9360	broad.mit.edu	37	2	170494027	170494027	+	Silent	SNP	C	C	T			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr2:170494027C>T	ENST00000260970.3	+	14	2479	c.2259C>T	c.(2257-2259)agC>agT	p.S753S	PPIG_ENST00000409714.3_Silent_p.S738S|PPIG_ENST00000448752.2_Silent_p.S753S	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	753					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AAGACAAAAGCGGATGAGTGA	0.313																																						ENST00000260970.3																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43						c.(2257-2259)agC>agT		peptidylprolyl isomerase G (cyclophilin G)	L-Proline(DB00172)						31.0	34.0	33.0					2																	170494027		2028	3823	5851	SO:0001819	synonymous_variant	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170494027C>T	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.2259C>T	2.37:g.170494027C>T						PPIG_ENST00000448752.2_Silent_p.S753S|PPIG_ENST00000409714.3_Silent_p.S738S	p.S753S	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN			14	2479	+			753					D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Silent	SNP	ENST00000260970.3	37	c.2259C>T	CCDS2235.1																																																																																				0.313	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			14	11	0	0	0	1	0	14	11				
ZNF671	79891	broad.mit.edu	37	19	58234684	58234684	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr19:58234684A>C	ENST00000317398.6	-	2	258	c.163T>G	c.(163-165)Ttt>Gtt	p.F55V	ZNF671_ENST00000594803.1_5'UTR|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF671_ENST00000596939.1_Intron|ZNF671_ENST00000335820.3_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	55	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AAGTATACAAACACATCCTCA	0.458																																						ENST00000317398.6																			0				kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(163-165)Ttt>Gtt		zinc finger protein 671							194.0	182.0	186.0					19																	58234684		2203	4300	6503	SO:0001583	missense	79891				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58234684A>C		CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"""Zinc fingers, C2H2-type"", ""-"""	26279	protein-coding gene	gene with protein product	"""hypothetical protein FLJ23506"""					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.163T>G	19.37:g.58234684A>C	ENSP00000321848:p.Phe55Val					ZNF671_ENST00000596939.1_Intron|ZNF671_ENST00000594803.1_5'UTR|ZNF671_ENST00000335820.3_Intron|AC003006.7_ENST00000599221.1_Intron	p.F55V	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	2	258	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	55			KRAB.		A6NF07|Q9H5E9	Missense_Mutation	SNP	ENST00000317398.6	37	c.163T>G	CCDS12961.1	.	.	.	.	.	.	.	.	.	.	A	15.27	2.784126	0.49997	.	.	ENSG00000083814	ENST00000317398	T	0.01613	4.73	1.53	-1.05	0.10036	Krueppel-associated box (4);	.	.	.	.	T	0.01124	0.0037	N	0.25201	0.72	0.09310	N	1	P	0.41569	0.755	B	0.31337	0.128	T	0.50171	-0.8859	9	0.41790	T	0.15	.	5.7541	0.18162	0.4458:0.5542:0.0:0.0	.	55	Q8TAW3	ZN671_HUMAN	V	55	ENSP00000321848:F55V	ENSP00000321848:F55V	F	-	1	0	ZNF671	62926496	0.000000	0.05858	0.012000	0.15200	0.767000	0.43475	-1.272000	0.02826	-0.387000	0.07809	0.383000	0.25322	TTT		0.458	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1	NM_024833		5	186	0	0	0	1	0	5	186				
HEATR1	55127	broad.mit.edu	37	1	236746150	236746150	+	Silent	SNP	T	T	C			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr1:236746150T>C	ENST00000366582.3	-	19	2562	c.2448A>G	c.(2446-2448)gaA>gaG	p.E816E	HEATR1_ENST00000366581.2_Silent_p.E816E	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	816					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTTTCAGTTGTTCAGGATTCC	0.428																																						ENST00000366582.3																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(2446-2448)gaA>gaG		HEAT repeat containing 1							145.0	115.0	125.0					1																	236746150		2203	4300	6503	SO:0001819	synonymous_variant	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236746150T>C	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.2448A>G	1.37:g.236746150T>C						HEATR1_ENST00000366581.2_Silent_p.E816E	p.E816E	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		19	2562	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	816					Q5T3Q8|Q6P197|Q9NW23	Silent	SNP	ENST00000366582.3	37	c.2448A>G	CCDS31066.1																																																																																				0.428	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		21	66	0	0	0	1	0	21	66				
CYSLTR1	10800	broad.mit.edu	37	X	77528817	77528817	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chrX:77528817C>A	ENST00000373304.3	-	3	719	c.427G>T	c.(427-429)Gtg>Ttg	p.V143L		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	143					defense response (GO:0006952)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory gaseous exchange (GO:0007585)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene receptor activity (GO:0004974)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	CCTACACACACAAACCTGGCT	0.373																																						ENST00000373304.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14						c.(427-429)Gtg>Ttg		cysteinyl leukotriene receptor 1	Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)						66.0	59.0	62.0					X																	77528817		2203	4297	6500	SO:0001583	missense	0				elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity	g.chrX:77528817C>A	AF119711	CCDS14439.1	Xq13-q21	2012-08-10			ENSG00000173198	ENSG00000173198		"""GPCR / Class A : Leukotriene receptors"""	17451	protein-coding gene	gene with protein product		300201				10391245, 10462554	Standard	NM_006639		Approved	CysLT1, CysLT(1), CYSLT1R	uc004edb.3	Q9Y271	OTTHUMG00000021889	ENST00000373304.3:c.427G>T	X.37:g.77528817C>A	ENSP00000362401:p.Val143Leu						p.V143L	NM_006639.2	NP_006630.1	Q9Y271	CLTR1_HUMAN			3	719	-			143					B2R954|D3DTE4|Q5JS94|Q8IV19	Missense_Mutation	SNP	ENST00000373304.3	37	c.427G>T	CCDS14439.1	.	.	.	.	.	.	.	.	.	.	c	9.010	0.982305	0.18889	.	.	ENSG00000173198	ENST00000373304	T	0.34275	1.37	4.27	4.27	0.50696	GPCR, rhodopsin-like superfamily (1);	0.136482	0.48767	D	0.000163	T	0.30386	0.0763	L	0.41236	1.265	0.42308	D	0.992204	B	0.25235	0.121	B	0.30105	0.111	T	0.08086	-1.0739	10	0.18276	T	0.48	.	13.3425	0.60553	0.0:1.0:0.0:0.0	.	143	Q9Y271	CLTR1_HUMAN	L	143	ENSP00000362401:V143L	ENSP00000362401:V143L	V	-	1	0	CYSLTR1	77415473	1.000000	0.71417	0.894000	0.35097	0.987000	0.75469	5.894000	0.69806	1.705000	0.51264	0.452000	0.29995	GTG		0.373	CYSLTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057315.1			5	13	1	0	0.184627	1	0.186337	5	13				
MAGEC2	51438	broad.mit.edu	37	X	141291465	141291465	+	Missense_Mutation	SNP	G	G	C			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chrX:141291465G>C	ENST00000247452.3	-	3	656	c.309C>G	c.(307-309)tgC>tgG	p.C103W		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	103	Ser-rich.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					AAGAGGAGCAGCAGGAGCTCA	0.562										HNSCC(46;0.14)																												ENST00000247452.3																			0				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47						c.(307-309)tgC>tgG		melanoma antigen family C, 2							73.0	69.0	70.0					X																	141291465		2203	4300	6503	SO:0001583	missense	51438					cytoplasm|nucleus		g.chrX:141291465G>C	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.309C>G	X.37:g.141291465G>C	ENSP00000354660:p.Cys103Trp	HNSCC(46;0.14)					p.C103W	NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN			3	656	-	Acute lymphoblastic leukemia(192;6.56e-05)		103			Ser-rich.		Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	c.309C>G	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	5.917	0.353174	0.11182	.	.	ENSG00000046774	ENST00000247452	T	0.04275	3.66	1.16	0.2	0.15181	Melanoma associated antigen, MAGE, N-terminal (1);	1.205610	0.06722	U	0.775049	T	0.06554	0.0168	N	0.24115	0.695	0.09310	N	1	D	0.63046	0.992	P	0.52217	0.693	T	0.39354	-0.9618	10	0.52906	T	0.07	.	6.0932	0.20005	0.2219:0.0:0.7781:0.0	.	103	Q9UBF1	MAGC2_HUMAN	W	103	ENSP00000354660:C103W	ENSP00000354660:C103W	C	-	3	2	MAGEC2	141119131	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.055000	0.11807	-0.445000	0.07159	-1.679000	0.00737	TGC		0.562	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		48	28	0	0	0	1	0	48	28				
UBA7	7318	broad.mit.edu	37	3	49847420	49847420	+	Silent	SNP	G	G	A			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr3:49847420G>A	ENST00000333486.3	-	14	1988	c.1830C>T	c.(1828-1830)caC>caT	p.H610H	UBA7_ENST00000494212.1_5'Flank	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	610					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CCTGCAGGGTGTGCTCGGCTG	0.612																																						ENST00000333486.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33						c.(1828-1830)caC>caT		ubiquitin-like modifier activating enzyme 7							83.0	86.0	85.0					3																	49847420		2203	4300	6503	SO:0001819	synonymous_variant	7318				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity	g.chr3:49847420G>A	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.1830C>T	3.37:g.49847420G>A							p.H610H	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	14	1988	-			610					Q9BRB2	Silent	SNP	ENST00000333486.3	37	c.1830C>T	CCDS2805.1																																																																																				0.612	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		8	137	0	0	0	1	0	8	137				
B4GALT7	11285	broad.mit.edu	37	5	177031297	177031297	+	Silent	SNP	C	C	T			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr5:177031297C>T	ENST00000029410.5	+	2	279	c.168C>T	c.(166-168)gaC>gaT	p.D56D		NM_007255.2	NP_009186.1	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7	56					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|chondroitin sulfate metabolic process (GO:0030204)|extracellular fibril organization (GO:0043206)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of fibroblast proliferation (GO:0048147)|protein N-linked glycosylation (GO:0006487)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|manganese ion binding (GO:0030145)|xylosylprotein 4-beta-galactosyltransferase activity (GO:0046525)			endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	7	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTCTGGGGACGTGGCCCGGG	0.682																																						ENST00000029410.5																			0				endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	7						c.(166-168)gaC>gaT		xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7							24.0	17.0	20.0					5																	177031297		2202	4298	6500	SO:0001819	synonymous_variant	11285				fibril organization|glycosaminoglycan biosynthetic process|negative regulation of fibroblast proliferation|protein modification process|proteoglycan metabolic process	Golgi cisterna membrane|integral to membrane	metal ion binding|xylosylprotein 4-beta-galactosyltransferase activity	g.chr5:177031297C>T	AB028600	CCDS4429.1	5q35.1-q35.3	2013-02-19	2012-07-18		ENSG00000027847	ENSG00000027847		"""Beta 4-glycosyltransferases"""	930	protein-coding gene	gene with protein product	"""galactosyltransferase I"""	604327				10438455, 10473568	Standard	NM_007255		Approved	XGALT-1, beta4Gal-T7	uc003mhy.3	Q9UBV7	OTTHUMG00000130851	ENST00000029410.5:c.168C>T	5.37:g.177031297C>T							p.D56D	NM_007255.2	NP_009186.1	Q9UBV7	B4GT7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	279	+	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	56					B3KN39|Q9UHN2	Silent	SNP	ENST00000029410.5	37	c.168C>T	CCDS4429.1																																																																																				0.682	B4GALT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253421.1	NM_007255		4	26	0	0	0	1	0	4	26				
TMEM108	66000	broad.mit.edu	37	3	133099186	133099186	+	Missense_Mutation	SNP	C	C	T	rs145373217	byFrequency	TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr3:133099186C>T	ENST00000321871.6	+	4	841	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W	TMEM108_ENST00000515826.1_Missense_Mutation_p.R211W|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Missense_Mutation_p.R211W	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	211						integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGGGCAGAAGCGGCCCCTGGG	0.592																																						ENST00000515826.1																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(631-633)Cgg>Tgg		transmembrane protein 108		C	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	44.0	46.0	45.0		631,631	3.3	1.0	3	dbSNP_134	45	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	TMEM108	NM_001136469.1,NM_023943.2	101,101	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	probably-damaging,probably-damaging	211/576,211/576	133099186	3,13003	2203	4300	6503	SO:0001583	missense	66000					integral to membrane		g.chr3:133099186C>T	AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"""cancer/testis antigen 124"""					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.631C>T	3.37:g.133099186C>T	ENSP00000324651:p.Arg211Trp					TMEM108_ENST00000321871.6_Missense_Mutation_p.R211W|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Missense_Mutation_p.R211W	p.R211W			Q6UXF1	TM108_HUMAN			3	754	+			211					D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	ENST00000321871.6	37	c.631C>T	CCDS33858.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.436598	0.62955	2.27E-4	2.33E-4	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000515826	T;T;T	0.54479	0.57;0.57;0.57	4.15	3.26	0.37387	.	0.183599	0.33144	N	0.005222	T	0.63058	0.2479	L	0.60455	1.87	0.36413	D	0.863837	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.95	T	0.68416	-0.5414	10	0.72032	D	0.01	-13.1797	6.6235	0.22816	0.1785:0.7287:0.0:0.0928	.	211;211	E9PB58;Q6UXF1	.;TM108_HUMAN	W	211	ENSP00000324651:R211W;ENSP00000376838:R211W;ENSP00000423338:R211W	ENSP00000324651:R211W	R	+	1	2	TMEM108	134581876	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.524000	0.45589	0.838000	0.34948	0.561000	0.74099	CGG		0.592	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356907.2	NM_023943		36	32	0	0	0	1	0	36	32				
GOLGB1	2804	broad.mit.edu	37	3	121435639	121435639	+	Silent	SNP	G	G	A			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr3:121435639G>A	ENST00000340645.5	-	9	1343	c.1218C>T	c.(1216-1218)ctC>ctT	p.L406L	GOLGB1_ENST00000393667.3_Silent_p.L411L	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	406					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCTTATCTTGGAGAAGCTTTG	0.433																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(1231-1233)ctC>ctT		golgin B1							108.0	98.0	101.0					3																	121435639		2203	4300	6503	SO:0001819	synonymous_variant	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121435639G>A	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.1218C>T	3.37:g.121435639G>A						GOLGB1_ENST00000340645.5_Silent_p.L406L	p.L411L	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	9	1343	-			406					B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	ENST00000340645.5	37	c.1233C>T	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	G	0.091	-1.166764	0.01660	.	.	ENSG00000173230	ENST00000489400	.	.	.	5.8	-4.43	0.03568	.	.	.	.	.	T	0.38081	0.1027	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	T	0.36480	-0.9746	4	.	.	.	.	1.8898	0.03246	0.45:0.2492:0.1749:0.1259	.	.	.	.	F	277	.	.	S	-	2	0	GOLGB1	122918329	0.137000	0.22531	0.670000	0.29842	0.011000	0.07611	-0.749000	0.04813	-0.727000	0.04888	-0.911000	0.02809	TCC		0.433	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		18	28	0	0	0	1	0	18	28				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			0							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	57	0	0	0	1	0	4	57				
LRRC37A3	374819	broad.mit.edu	37	17	62892272	62892272	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr17:62892272C>G	ENST00000584306.1	-	3	1634	c.1104G>C	c.(1102-1104)gaG>gaC	p.E368D	LRRC37A3_ENST00000319651.5_Missense_Mutation_p.E368D|RP11-927P21.1_ENST00000584131.1_RNA|RP11-927P21.1_ENST00000577938.1_RNA|LRRC37A3_ENST00000339474.5_Intron|RP11-927P21.1_ENST00000584959.1_RNA|LRRC37A3_ENST00000577487.1_5'Flank|LRRC37A3_ENST00000400877.3_Intron	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	368						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CCCTAGAAGACTCAGAAGGCT	0.537																																						ENST00000584306.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1102-1104)gaG>gaC		leucine rich repeat containing 37, member A3							25.0	32.0	29.0					17																	62892272		1969	4070	6039	SO:0001583	missense	374819					integral to membrane		g.chr17:62892272C>G	AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.1104G>C	17.37:g.62892272C>G	ENSP00000464535:p.Glu368Asp					RP11-927P21.1_ENST00000584959.1_RNA|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.E368D|RP11-927P21.1_ENST00000584131.1_RNA|RP11-927P21.1_ENST00000577938.1_RNA|LRRC37A3_ENST00000339474.5_Intron|LRRC37A3_ENST00000400877.3_Intron	p.E368D	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN			3	1634	-			368					Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	ENST00000584306.1	37	c.1104G>C	CCDS32708.1	.	.	.	.	.	.	.	.	.	.	.	6.642	0.486910	0.12641	.	.	ENSG00000176809	ENST00000319651	T	0.68479	-0.33	2.69	0.58	0.17402	.	.	.	.	.	T	0.51975	0.1706	L	0.39566	1.225	0.09310	N	1	B	0.24721	0.11	B	0.22386	0.039	T	0.41680	-0.9495	9	0.45353	T	0.12	.	5.0543	0.14524	0.0:0.6916:0.0:0.3084	.	368	O60309	L37A3_HUMAN	D	368	ENSP00000325713:E368D	ENSP00000325713:E368D	E	-	3	2	LRRC37A3	60322734	0.001000	0.12720	0.000000	0.03702	0.071000	0.16799	0.247000	0.18179	0.046000	0.15833	-0.768000	0.03414	GAG		0.537	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	NM_199340		90	399	0	0	0	1	0	90	399				
WDR19	57728	broad.mit.edu	37	4	39229838	39229838	+	Silent	SNP	C	C	T			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr4:39229838C>T	ENST00000399820.3	+	16	1792	c.1638C>T	c.(1636-1638)gaC>gaT	p.D546D	WDR19_ENST00000288634.7_Silent_p.D386D	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	546					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						AGGTCAATGACGCTACCTATG	0.383																																						ENST00000399820.3																			0				large_intestine(1)	1						c.(1636-1638)gaC>gaT		WD repeat domain 19							64.0	61.0	62.0					4																	39229838		1839	4082	5921	SO:0001819	synonymous_variant	57728				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	g.chr4:39229838C>T	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.1638C>T	4.37:g.39229838C>T						WDR19_ENST00000288634.7_Silent_p.D386D	p.D546D	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN			16	1792	+			546					B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Silent	SNP	ENST00000399820.3	37	c.1638C>T	CCDS47042.1																																																																																				0.383	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1			5	11	0	0	0	1	0	5	11				
OR4X1	390113	broad.mit.edu	37	11	48285756	48285756	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr11:48285756T>C	ENST00000320048.1	+	1	344	c.344T>C	c.(343-345)gTg>gCg	p.V115A		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	115						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						CTCCTGATGGTGATGGCCTAT	0.517																																						ENST00000320048.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						c.(343-345)gTg>gCg		olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)							78.0	73.0	75.0					11																	48285756		2201	4298	6499	SO:0001583	missense	390113				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48285756T>C	AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"""GPCR / Class A : Olfactory receptors"""	14854	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily X, member 1"""				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.344T>C	11.37:g.48285756T>C	ENSP00000321506:p.Val115Ala						p.V115A	NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN			1	344	+			115					Q6IF74	Missense_Mutation	SNP	ENST00000320048.1	37	c.344T>C	CCDS31487.1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.209859	0.39003	.	.	ENSG00000176567	ENST00000320048	T	0.05580	3.42	4.26	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.08044	0.0201	L	0.29908	0.895	0.22034	N	0.999409	P	0.45474	0.859	P	0.46685	0.524	T	0.29336	-1.0015	9	0.35671	T	0.21	.	11.6786	0.51444	0.0:0.0:0.0:1.0	.	115	Q8NH49	OR4X1_HUMAN	A	115	ENSP00000321506:V115A	ENSP00000321506:V115A	V	+	2	0	OR4X1	48242332	0.000000	0.05858	0.960000	0.40013	0.369000	0.29798	0.479000	0.22228	1.911000	0.55334	0.456000	0.33151	GTG		0.517	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	NM_001004726		23	30	0	0	0	1	0	23	30				
ABCC9	10060	broad.mit.edu	37	12	22040812	22040812	+	Missense_Mutation	SNP	C	C	A	rs139539832		TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr12:22040812C>A	ENST00000261201.4	-	13	1858	c.1859G>T	c.(1858-1860)cGa>cTa	p.R620L	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261200.4_Missense_Mutation_p.R620L|ABCC9_ENST00000345162.2_Missense_Mutation_p.R620L	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	620					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TTCACCAGTTCGCCAACTGTC	0.383																																						ENST00000261200.4																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(1858-1860)cGa>cTa		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						119.0	116.0	117.0					12																	22040812		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22040812C>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.1859G>T	12.37:g.22040812C>A	ENSP00000261201:p.Arg620Leu					ABCC9_ENST00000345162.2_Missense_Mutation_p.R620L|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Missense_Mutation_p.R620L	p.R620L	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			13	1858	-			620					O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.1859G>T	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817766	0.32145	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.92299	-2.99;-2.87;-3.0;-3.01	5.16	4.27	0.50696	.	0.050628	0.85682	D	0.000000	D	0.85128	0.5626	N	0.25201	0.72	0.48696	D	0.999698	B;P	0.43973	0.449;0.823	B;B	0.37692	0.115;0.256	D	0.83960	0.0321	10	0.28530	T	0.3	-4.0897	14.9572	0.71124	0.1438:0.8562:0.0:0.0	.	620;620	O60706;O60706-2	ABCC9_HUMAN;.	L	620;283;620;620	ENSP00000261200:R620L;ENSP00000440521:R283L;ENSP00000261201:R620L;ENSP00000261202:R620L	ENSP00000261200:R620L	R	-	2	0	ABCC9	21932079	1.000000	0.71417	0.603000	0.28903	0.638000	0.38207	4.002000	0.57053	1.415000	0.47037	0.561000	0.74099	CGA		0.383	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		7	347	1	0	0.00307968	1	0.00316684	7	347				
GSTCD	79807	broad.mit.edu	37	4	106638979	106638979	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr4:106638979A>G	ENST00000515279.1	+	2	429	c.209A>G	c.(208-210)gAt>gGt	p.D70G	GSTCD_ENST00000507281.1_Intron|GSTCD_ENST00000360505.5_Missense_Mutation_p.D70G|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000394728.3_Missense_Mutation_p.D70G|GSTCD_ENST00000394730.3_Intron			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	70						extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		CTGATCCAGGATGTTGAAATA	0.383																																						ENST00000515279.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14						c.(208-210)gAt>gGt		glutathione S-transferase, C-terminal domain containing							99.0	99.0	99.0					4																	106638979		2203	4300	6503	SO:0001583	missense	79807					cytoplasm	rRNA methyltransferase activity	g.chr4:106638979A>G	BC032942	CCDS3672.2, CCDS43257.1	4q24	2008-02-05	2006-05-09		ENSG00000138780	ENSG00000138780			25806	protein-coding gene	gene with protein product		615912	"""Glutathione S-transferase, C-terminal domain containing"""			12477932	Standard	NM_001031720		Approved	FLJ13273	uc003hxz.4	Q8NEC7	OTTHUMG00000131211	ENST00000515279.1:c.209A>G	4.37:g.106638979A>G	ENSP00000422354:p.Asp70Gly					GSTCD_ENST00000394728.3_Missense_Mutation_p.D70G|GSTCD_ENST00000394730.3_Intron|GSTCD_ENST00000360505.5_Missense_Mutation_p.D70G|GSTCD_ENST00000507281.1_Intron|GSTCD_ENST00000515255.1_Intron	p.D70G			Q8NEC7	GSTCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)	2	429	+		Hepatocellular(203;0.217)	70					A8K8J0|A8MVD3|H9KV97|Q9H8S3	Missense_Mutation	SNP	ENST00000515279.1	37	c.209A>G	CCDS43257.1	.	.	.	.	.	.	.	.	.	.	A	6.293	0.422073	0.11928	.	.	ENSG00000138780	ENST00000515279;ENST00000360505;ENST00000510865;ENST00000509336;ENST00000394728	.	.	.	5.55	3.12	0.35913	.	0.440976	0.25692	N	0.028927	T	0.26085	0.0636	N	0.20401	0.57	0.09310	N	0.999995	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.002	T	0.15150	-1.0447	9	0.34782	T	0.22	-15.2787	9.6228	0.39732	0.8585:0.0:0.1415:0.0	.	70;70	Q8NEC7;D6RCC9	GSTCD_HUMAN;.	G	70	.	ENSP00000353695:D70G	D	+	2	0	GSTCD	106858428	0.263000	0.24083	0.162000	0.22713	0.441000	0.31987	2.393000	0.44442	0.416000	0.25844	0.533000	0.62120	GAT		0.383	GSTCD-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363981.1	NM_024751		27	40	0	0	0	1	0	27	40				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		5	92	0	0	0	1	0	5	92				
CNKSR2	22866	broad.mit.edu	37	X	21670532	21670532	+	Missense_Mutation	SNP	A	A	G	rs373711438		TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chrX:21670532A>G	ENST00000379510.3	+	22	3034	c.2998A>G	c.(2998-3000)Atc>Gtc	p.I1000V	CNKSR2_ENST00000425654.2_Missense_Mutation_p.I970V	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	1000					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TTTCTTGGATATCTGTCAAAA	0.398																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(2908-2910)Atc>Gtc		connector enhancer of kinase suppressor of Ras 2		A	VAL/ILE,VAL/ILE	2,3833		0,1,1,1631,570	173.0	144.0	154.0		2908,2998	5.8	1.0	X		154	0,6728		0,0,0,2428,1872	no	missense,missense	CNKSR2	NM_001168647.1,NM_014927.3	29,29	0,1,1,4059,2442	GG,GA,G,AA,A		0.0,0.0522,0.0189	benign,benign	970/1005,1000/1035	21670532	2,10561	2203	4300	6503	SO:0001583	missense	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21670532A>G	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2998A>G	X.37:g.21670532A>G	ENSP00000368824:p.Ile1000Val					CNKSR2_ENST00000379510.3_Missense_Mutation_p.I1000V	p.I970V	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			21	3388	+			1000					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	c.2908A>G	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	A	11.71	1.718751	0.30503	5.22E-4	0.0	ENSG00000149970	ENST00000425654;ENST00000379510	T;T	0.19938	2.11;2.14	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.23171	0.0560	L	0.49350	1.555	0.80722	D	1	B;B	0.18013	0.025;0.025	B;B	0.21708	0.036;0.036	T	0.02173	-1.1201	10	0.33141	T	0.24	-0.8204	15.0965	0.72238	1.0:0.0:0.0:0.0	.	970;1000	B7ZLJ1;Q8WXI2	.;CNKR2_HUMAN	V	970;1000	ENSP00000397906:I970V;ENSP00000368824:I1000V	ENSP00000368824:I1000V	I	+	1	0	CNKSR2	21580453	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.723000	0.61965	1.948000	0.56530	0.441000	0.28932	ATC		0.398	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		40	31	0	0	0	1	0	40	31				
DNAH2	146754	broad.mit.edu	37	17	7683556	7683556	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr17:7683556T>A	ENST00000572933.1	+	37	7264	c.5804T>A	c.(5803-5805)cTc>cAc	p.L1935H	DNAH2_ENST00000389173.2_Missense_Mutation_p.L1935H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1935	AAA 1. {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)			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)				GACTCCACCCTCATTGCAGAA	0.453																																						ENST00000572933.1																			0				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.(5803-5805)cTc>cAc		dynein, axonemal, heavy chain 2							192.0	186.0	188.0					17																	7683556		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7683556T>A	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.5804T>A	17.37:g.7683556T>A	ENSP00000458355:p.Leu1935His					DNAH2_ENST00000389173.2_Missense_Mutation_p.L1935H	p.L1935H			Q9P225	DYH2_HUMAN			37	7264	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1935			AAA 1 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.5804T>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.180831	0.78677	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.16324	2.35	5.21	5.21	0.72293	.	0.160189	0.41294	D	0.000904	T	0.48114	0.1482	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.57510	-0.7799	10	0.87932	D	0	.	14.2055	0.65732	0.0:0.0:0.0:1.0	.	1935	Q9P225	DYH2_HUMAN	H	1935	ENSP00000373825:L1935H	ENSP00000353818:L1935H	L	+	2	0	DNAH2	7624281	1.000000	0.71417	0.744000	0.31058	0.989000	0.77384	5.964000	0.70379	2.194000	0.70268	0.459000	0.35465	CTC		0.453	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		10	149	0	0	0	1	0	10	149				
KRTAP20-2	337976	broad.mit.edu	37	21	32007616	32007616	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr21:32007616C>T	ENST00000330798.2	+	1	62	c.34C>T	c.(34-36)Cgt>Tgt	p.R12C		NM_181616.1	NP_853647.1	Q3LI61	KR202_HUMAN	keratin associated protein 20-2	12						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						TGGTGGTCTGCGTTATGGCTA	0.517																																						ENST00000330798.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						c.(34-36)Cgt>Tgt		keratin associated protein 20-2							188.0	153.0	165.0					21																	32007616		2203	4300	6503	SO:0001583	missense	337976					intermediate filament		g.chr21:32007616C>T	AP001708	CCDS13604.1	21q22.1	2006-03-13			ENSG00000184032	ENSG00000184032		"""Keratin associated proteins"""	18944	protein-coding gene	gene with protein product						12359730	Standard	NM_181616		Approved	KAP20.2	uc011adg.2	Q3LI61	OTTHUMG00000057786	ENST00000330798.2:c.34C>T	21.37:g.32007616C>T	ENSP00000330746:p.Arg12Cys						p.R12C	NM_181616.1	NP_853647.1	Q3LI61	KR202_HUMAN			1	62	+			12						Missense_Mutation	SNP	ENST00000330798.2	37	c.34C>T	CCDS13604.1	.	.	.	.	.	.	.	.	.	.	C	6.118	0.389983	0.11581	.	.	ENSG00000184032	ENST00000330798	T	0.09723	2.95	3.45	2.57	0.30868	.	0.000000	0.40908	U	0.000993	T	0.09730	0.0239	.	.	.	0.09310	N	1	P	0.50710	0.938	B	0.41202	0.35	T	0.15492	-1.0435	9	0.87932	D	0	.	8.9659	0.35877	0.0:0.2289:0.7711:0.0	.	12	Q3LI61	KR202_HUMAN	C	12	ENSP00000330746:R12C	ENSP00000330746:R12C	R	+	1	0	KRTAP20-2	30929487	0.000000	0.05858	0.007000	0.13788	0.012000	0.07955	0.216000	0.17585	0.802000	0.34089	-0.128000	0.14901	CGT		0.517	KRTAP20-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128238.3			45	55	0	0	0	1	0	45	55				
PPP2R1A	5518	broad.mit.edu	37	19	52715971	52715971	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr19:52715971C>G	ENST00000322088.6	+	5	594	c.536C>G	c.(535-537)cCc>cGc	p.P179R	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.P124R|PPP2R1A_ENST00000462990.1_5'UTR	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	179	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.P179R(21)|p.P179L(5)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GATGACACCCCCATGGTGCGG	0.612			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6				Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		26	Substitution - Missense(26)	p.P179R(21)|p.P179L(5)	endometrium(25)|ovary(1)	NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(535-537)cCc>cGc		protein phosphatase 2, regulatory subunit A, alpha							61.0	52.0	55.0					19																	52715971		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52715971C>G		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.536C>G	19.37:g.52715971C>G	ENSP00000324804:p.Pro179Arg					PPP2R1A_ENST00000444322.2_Missense_Mutation_p.P124R|PPP2R1A_ENST00000462990.1_5'UTR	p.P179R	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	5	594	+			179			PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.536C>G	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457832	0.84317	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.16597	2.33;2.33	4.5	4.5	0.54988	Armadillo-like helical (1);Armadillo-type fold (1);	0.092820	0.45867	D	0.000326	T	0.55226	0.1907	H	0.96239	3.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.995;0.995	T	0.70695	-0.4801	10	0.87932	D	0	-22.0504	15.1189	0.72426	0.0:1.0:0.0:0.0	.	124;179;179	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	R	169;99;179;124	ENSP00000324804:P179R;ENSP00000415067:P124R	ENSP00000324804:P179R	P	+	2	0	PPP2R1A	57407783	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.760000	0.74939	2.503000	0.84419	0.655000	0.94253	CCC		0.612	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		31	42	0	0	0	1	0	31	42				
SEC23A	10484	broad.mit.edu	37	14	39556161	39556161	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr14:39556161G>A	ENST00000307712.6	-	6	1172	c.655C>T	c.(655-657)Cag>Tag	p.Q219*	SEC23A_ENST00000537403.1_Nonsense_Mutation_p.Q17*|SEC23A_ENST00000536508.1_Nonsense_Mutation_p.Q93*|SEC23A_ENST00000545328.2_Nonsense_Mutation_p.Q190*	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	219					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		TGCTGTACCTGAGGACCACGT	0.383																																						ENST00000537403.1																			0				kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(49-51)Cag>Tag		Sec23 homolog A (S. cerevisiae)							125.0	118.0	120.0					14																	39556161		2203	4300	6503	SO:0001587	stop_gained	10484				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding	g.chr14:39556161G>A	X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"""Sec23 (S. cerevisiae) homolog A"""			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.655C>T	14.37:g.39556161G>A	ENSP00000306881:p.Gln219*					SEC23A_ENST00000307712.6_Nonsense_Mutation_p.Q219*|SEC23A_ENST00000545328.2_Nonsense_Mutation_p.Q190*|SEC23A_ENST00000536508.1_Nonsense_Mutation_p.Q93*	p.Q17*			Q15436	SC23A_HUMAN	Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)	2	1251	-	Hepatocellular(127;0.213)		219					B2R5P4|B3KXI2|Q8NE16	Nonsense_Mutation	SNP	ENST00000307712.6	37	c.49C>T	CCDS9668.1	.	.	.	.	.	.	.	.	.	.	G	37	6.254996	0.97417	.	.	ENSG00000100934	ENST00000537403;ENST00000307712;ENST00000536508;ENST00000545328;ENST00000554645	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-8.3376	19.8415	0.96690	0.0:0.0:1.0:0.0	.	.	.	.	X	17;219;93;190;107	.	ENSP00000306881:Q219X	Q	-	1	0	SEC23A	38625912	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.792000	0.91856	2.700000	0.92200	0.655000	0.94253	CAG		0.383	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276728.2			24	9	0	0	0	1	0	24	9				
DIAPH2	1730	broad.mit.edu	37	X	95940099	95940099	+	Silent	SNP	C	C	A			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chrX:95940099C>A	ENST00000324765.8	+	1	389	c.42C>A	c.(40-42)ggC>ggA	p.G14G	DIAPH2_ENST00000373061.3_Silent_p.G14G|DIAPH2_ENST00000373054.4_Silent_p.G14G|DIAPH2_ENST00000373049.4_Silent_p.G14G|DIAPH2_ENST00000355827.4_Silent_p.G14G			O60879	DIAP2_HUMAN	diaphanous-related formin 2	14					actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CGGGAGGCGGCAGCGAGGAAC	0.647																																						ENST00000324765.8																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(40-42)ggC>ggA		diaphanous-related formin 2							13.0	17.0	16.0					X																	95940099		2084	4123	6207	SO:0001819	synonymous_variant	1730				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	g.chrX:95940099C>A	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.42C>A	X.37:g.95940099C>A						DIAPH2_ENST00000373054.4_Silent_p.G14G|DIAPH2_ENST00000373061.3_Silent_p.G14G|DIAPH2_ENST00000355827.4_Silent_p.G14G|DIAPH2_ENST00000373049.4_Silent_p.G14G	p.G14G			O60879	DIAP2_HUMAN			1	389	+			14					A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Silent	SNP	ENST00000324765.8	37	c.42C>A	CCDS14467.1																																																																																				0.647	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		5	11	1	0	0.000602214	1	0.000631167	5	11				
ZFAT	57623	broad.mit.edu	37	8	135545196	135545196	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr8:135545196C>T	ENST00000377838.3	-	12	3170	c.2996G>A	c.(2995-2997)tGc>tAc	p.C999Y	ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000523399.1_Missense_Mutation_p.C937Y|ZFAT_ENST00000520727.1_Missense_Mutation_p.C987Y|ZFAT_ENST00000429442.2_Missense_Mutation_p.C987Y|ZFAT_ENST00000520356.1_Missense_Mutation_p.C987Y|ZFAT_ENST00000520214.1_Missense_Mutation_p.C987Y	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	999					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GGAGTAATGGCAATGGGCACA	0.587																																						ENST00000520727.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(2959-2961)tGc>tAc		zinc finger and AT hook domain containing							55.0	57.0	56.0					8																	135545196		2067	4190	6257	SO:0001583	missense	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135545196C>T	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.2996G>A	8.37:g.135545196C>T	ENSP00000367069:p.Cys999Tyr					ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000429442.2_Missense_Mutation_p.C987Y|ZFAT_ENST00000520214.1_Missense_Mutation_p.C987Y|ZFAT_ENST00000523399.1_Missense_Mutation_p.C937Y|ZFAT_ENST00000520356.1_Missense_Mutation_p.C987Y|ZFAT_ENST00000377838.3_Missense_Mutation_p.C999Y	p.C987Y	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		13	3259	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		999					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	c.2960G>A	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302267	0.81136	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399	T;T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32;0.32	5.38	5.38	0.77491	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.82268	0.5000	M	0.92077	3.27	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.999	D	0.86641	0.1892	10	0.87932	D	0	-19.4018	18.1676	0.89733	0.0:1.0:0.0:0.0	.	118;937;987;999	B7Z741;E9PER3;E9PBN4;Q9P243	.;.;.;ZFAT_HUMAN	Y	987;987;987;999;987;886;937	ENSP00000427879:C987Y;ENSP00000427831:C987Y;ENSP00000394501:C987Y;ENSP00000367069:C999Y;ENSP00000428483:C987Y;ENSP00000429091:C937Y	ENSP00000326997:C886Y	C	-	2	0	ZFAT	135614378	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.223000	0.78033	2.530000	0.85305	0.585000	0.79938	TGC		0.587	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		16	14	0	0	0	1	0	16	14				
MCM7	4176	broad.mit.edu	37	7	99696771	99696771	+	Missense_Mutation	SNP	G	G	A	rs150260409	byFrequency	TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr7:99696771G>A	ENST00000303887.5	-	5	1102	c.457C>T	c.(457-459)Cgg>Tgg	p.R153W	AP4M1_ENST00000422582.1_5'Flank|AP4M1_ENST00000421755.1_5'Flank|MCM7_ENST00000343023.6_Missense_Mutation_p.R153W|AP4M1_ENST00000429084.1_5'Flank|AP4M1_ENST00000359593.4_5'Flank|MCM7_ENST00000354230.3_5'UTR	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	153					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAGTCAGCCCGCACTTCCCGG	0.512																																						ENST00000303887.5																			0				endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17						c.(457-459)Cgg>Tgg		minichromosome maintenance complex component 7	Atorvastatin(DB01076)	G	TRP/ARG,	2,4404	6.2+/-15.9	0,2,2201	112.0	100.0	104.0		457,	3.7	1.0	7	dbSNP_134	104	0,8600		0,0,4300	yes	missense,utr-5	MCM7	NM_005916.3,NM_182776.1	101,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,	153/720,	99696771	2,13004	2203	4300	6503	SO:0001583	missense	4176				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	g.chr7:99696771G>A		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 104"""	600592	"""minichromosome maintenance deficient (S. cerevisiae) 7"", ""MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"""	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.457C>T	7.37:g.99696771G>A	ENSP00000307288:p.Arg153Trp					MCM7_ENST00000354230.3_5'UTR|MCM7_ENST00000343023.6_Missense_Mutation_p.R153W	p.R153W	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN			5	1102	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		153					A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Missense_Mutation	SNP	ENST00000303887.5	37	c.457C>T	CCDS5683.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728365	0.69074	4.54E-4	0.0	ENSG00000166508	ENST00000343023;ENST00000303887;ENST00000542483;ENST00000362082;ENST00000425308	T;T;T	0.15139	2.45;2.45;2.45	4.58	3.68	0.42216	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.172999	0.40728	N	0.001024	T	0.30759	0.0775	M	0.78801	2.425	0.80722	D	1	D	0.61697	0.99	P	0.52554	0.702	T	0.10019	-1.0648	10	0.87932	D	0	-5.9434	9.6738	0.40028	0.0:0.0:0.622:0.378	.	153	P33993	MCM7_HUMAN	W	153;153;90;46;46	ENSP00000344006:R153W;ENSP00000307288:R153W;ENSP00000411295:R46W	ENSP00000307288:R153W	R	-	1	2	MCM7	99534707	0.993000	0.37304	0.999000	0.59377	0.799000	0.45148	3.164000	0.50770	1.103000	0.41568	0.462000	0.41574	CGG		0.512	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3			8	158	0	0	0	1	0	8	158				
LIPH	200879	broad.mit.edu	37	3	185252705	185252705	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr3:185252705C>T	ENST00000296252.4	-	2	406	c.265G>A	c.(265-267)Gat>Aat	p.D89N	LIPH_ENST00000424591.2_Missense_Mutation_p.D89N	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	89					lipid catabolic process (GO:0016042)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			ACTAAGTCATCCATCCAAACA	0.438																																						ENST00000296252.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20						c.(265-267)Gat>Aat		lipase, member H							145.0	138.0	140.0					3																	185252705		2203	4300	6503	SO:0001583	missense	200879				lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity	g.chr3:185252705C>T	AY093498	CCDS3272.1	3q27	2012-07-31			ENSG00000163898	ENSG00000163898			18483	protein-coding gene	gene with protein product		607365				12213196, 12063250	Standard	XM_006713529		Approved	mPA-PLA1, PLA1B, mPA-PLA1alpha, LPDLR	uc003fpm.3	Q8WWY8	OTTHUMG00000156657	ENST00000296252.4:c.265G>A	3.37:g.185252705C>T	ENSP00000296252:p.Asp89Asn					LIPH_ENST00000424591.2_Missense_Mutation_p.D89N	p.D89N	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		2	406	-	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		89					A2IBA7|Q8TEC7	Missense_Mutation	SNP	ENST00000296252.4	37	c.265G>A	CCDS3272.1	.	.	.	.	.	.	.	.	.	.	C	8.793	0.930989	0.18131	.	.	ENSG00000163898	ENST00000296252;ENST00000424591	D;D	0.91068	-2.56;-2.78	5.98	3.07	0.35406	Lipase, N-terminal (1);	1.323730	0.04458	N	0.373887	D	0.85287	0.5662	N	0.12853	0.265	0.09310	N	1	P;B	0.37594	0.601;0.007	B;B	0.37833	0.259;0.014	T	0.70655	-0.4812	10	0.18710	T	0.47	-2.6217	17.8819	0.88843	0.0:0.5319:0.4681:0.0	.	89;89	A2IBA6;Q8WWY8	.;LIPH_HUMAN	N	89	ENSP00000296252:D89N;ENSP00000396384:D89N	ENSP00000296252:D89N	D	-	1	0	LIPH	186735399	0.000000	0.05858	0.379000	0.26080	0.738000	0.42128	-0.509000	0.06336	0.820000	0.34516	0.655000	0.94253	GAT		0.438	LIPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345153.1			153	45	0	0	0	1	0	153	45				
HMGN2	3151	broad.mit.edu	37	1	26799107	26799107	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr1:26799107delC	ENST00000361427.5	+	1	98	c.4delC	c.(4-6)cccfs	p.P2fs		NM_005517.3	NP_005508.1	P05204	HMGN2_HUMAN	high mobility group nucleosomal binding domain 2	2						chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|lung(2)	3		all_cancers(24;1.9e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.38e-49)|OV - Ovarian serous cystadenocarcinoma(117;5.38e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.026)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		CGCCACCATGCCCAAGAGAAA	0.741																																						ENST00000361427.5																			0				breast(1)|lung(2)	3						c.(4-6)ccfs		high mobility group nucleosomal binding domain 2							2.0	2.0	2.0					1																	26799107		1333	2989	4322	SO:0001589	frameshift_variant	3151				chromatin organization|regulation of transcription, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding|protein binding	g.chr1:26799107delC	BC081567	CCDS283.1	1p36.1	2011-07-01	2011-04-05	2002-08-16	ENSG00000198830	ENSG00000198830		"""High-mobility group / Canonical"""	4986	protein-coding gene	gene with protein product		163910	"""high-mobility group (nonhistone chromosomal) protein 17"", ""high-mobility group nucleosomal binding domain 2"""	HMG17		2037294	Standard	NM_005517		Approved		uc001bmp.4	P05204	OTTHUMG00000003555	ENST00000361427.5:c.4delC	1.37:g.26799107delC	ENSP00000355228:p.Pro2fs						p.P2fs	NM_005517.3	NP_005508.1	P05204	HMGN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.38e-49)|OV - Ovarian serous cystadenocarcinoma(117;5.38e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.026)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)	1	98	+		all_cancers(24;1.9e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	2					Q0VGD5|Q6FGI5|Q96C64	Frame_Shift_Del	DEL	ENST00000361427.5	37	c.4delC	CCDS283.1																																																																																				0.741	HMGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009901.1	NM_005517		2	4						2	4	---	---	---	---
TRBV29-1	28558	broad.mit.edu	37	7	142448089	142448090	+	RNA	INS	-	-	T			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr7:142448089_142448090insT	ENST00000422143.2	+	0	37_38									T cell receptor beta variable 29-1																		TTCTTAGTGCCTTTTCTCAGGG	0.475																																						ENST00000422143.2																			0																																																			0							g.chr7:142448089_142448090insT	L36092		7q34	2012-02-07			ENSG00000232869	ENSG00000232869		"""T cell receptors / TRB locus"""	12210	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV291, TCRBV29S1, TCRBV4S1A1T			OTTHUMG00000158898		7.37:g.142448093_142448093dupT														0	37_38	+									RNA	INS	ENST00000422143.2	37																																																																																						0.475	TRBV29-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352510.1	NG_001333		2	4						2	4	---	---	---	---
PNLIPRP2	5408	broad.mit.edu	37	10	118383815	118383816	+	RNA	INS	-	-	CA	rs67295503|rs3217086|rs113988880	byFrequency	TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr10:118383815_118383816insCA	ENST00000298771.7	+	0	229				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000537242.1_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		acttacacattcacacacactg	0.485														1806	0.360623	0.2315	0.4179	5008	,	,		16449	0.5784		0.338	False		,,,				2504	0.2935					ENST00000537242.1																			0				endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16								pancreatic lipase-related protein 2																																						5408				galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	g.chr10:118383815_118383816insCA	M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118383822_118383823dupCA						PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA		NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN		all cancers(201;0.015)	0	230	+								A8K627|Q6IB55	RNA	INS	ENST00000298771.7	37																																																																																						0.485	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396		3	4						3	4	---	---	---	---
HNRNPC	3183	broad.mit.edu	37	14	21679709	21679711	+	In_Frame_Del	DEL	ATC	ATC	-	rs200789242	byFrequency	TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr14:21679709_21679711delATC	ENST00000320084.7	-	7	930_932	c.691_693delGAT	c.(691-693)gatdel	p.D231del	HNRNPC_ENST00000556142.1_Intron|HNRNPC_ENST00000554969.1_In_Frame_Del_p.D218del|HNRNPC_ENST00000556897.1_In_Frame_Del_p.D218del|HNRNPC_ENST00000336053.6_In_Frame_Del_p.D218del|HNRNPC_ENST00000554455.1_In_Frame_Del_p.D231del|HNRNPC_ENST00000555309.1_In_Frame_Del_p.D230del|HNRNPC_ENST00000420743.2_In_Frame_Del_p.D231del|HNRNPC_ENST00000556513.1_Intron|HNRNPC_ENST00000553300.1_In_Frame_Del_p.D218del|HNRNPC_ENST00000430246.2_In_Frame_Del_p.D218del|HNRNPC_ENST00000555883.1_In_Frame_Del_p.D175del|HNRNPC_ENST00000553753.1_In_Frame_Del_p.D218del|HNRNPC_ENST00000556628.1_In_Frame_Del_p.D151del|HNRNPC_ENST00000449098.1_In_Frame_Del_p.D218del|HNRNPC_ENST00000555914.1_In_Frame_Del_p.D217del|HNRNPC_ENST00000557201.1_In_Frame_Del_p.D231del	NM_001077442.1	NP_001070910.1	P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)	231	Asp/Glu-rich (acidic).				3'-UTR-mediated mRNA stabilization (GO:0070935)|ATP-dependent chromatin remodeling (GO:0043044)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|spliceosomal complex (GO:0005681)	identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleosomal DNA binding (GO:0031492)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		CTTCTGACTTATCATTCTTCATC	0.512																																					NSCLC(108;607 2244 12726 38757)	ENST00000430246.2																			0				breast(1)|liver(1)|lung(6)|skin(1)	9						c.(652-654)del		heterogeneous nuclear ribonucleoprotein C (C1/C2)			,,,	34,4214		0,34,2090					,,,	4.7	1.0			22	93,8127		0,93,4017	no	coding,coding,coding,coding	HNRNPC	NM_031314.2,NM_004500.3,NM_001077443.1,NM_001077442.1	,,,	0,127,6107	A1A1,A1R,RR		1.1314,0.8004,1.0186	,,,	,,,		127,12341				SO:0001651	inframe_deletion	3183					catalytic step 2 spliceosome|nucleoplasm	identical protein binding|nucleotide binding|RNA binding	g.chr14:21679709_21679711delATC		CCDS41915.1, CCDS45079.1	14q11.2	2013-06-12		2007-08-16	ENSG00000092199	ENSG00000092199		"""RNA binding motif (RRM) containing"""	5035	protein-coding gene	gene with protein product		164020		HNRPC		3457372	Standard	NM_031314		Approved	hnRNPC	uc001waa.3	P07910	OTTHUMG00000170757	ENST00000320084.7:c.691_693delGAT	14.37:g.21679709_21679711delATC	ENSP00000319690:p.Asp231del					HNRNPC_ENST00000556513.1_Intron|HNRNPC_ENST00000557201.1_In_Frame_Del_p.D231del|HNRNPC_ENST00000553753.1_In_Frame_Del_p.D218del|HNRNPC_ENST00000556897.1_In_Frame_Del_p.D218del|HNRNPC_ENST00000556628.1_In_Frame_Del_p.D151del|HNRNPC_ENST00000420743.2_In_Frame_Del_p.D231del|HNRNPC_ENST00000556142.1_Intron|HNRNPC_ENST00000555883.1_In_Frame_Del_p.D175del|HNRNPC_ENST00000555914.1_In_Frame_Del_p.D217del|HNRNPC_ENST00000555309.1_In_Frame_Del_p.D230del|HNRNPC_ENST00000554455.1_In_Frame_Del_p.D231del|HNRNPC_ENST00000554969.1_In_Frame_Del_p.D218del|HNRNPC_ENST00000320084.7_In_Frame_Del_p.D231del|HNRNPC_ENST00000336053.6_In_Frame_Del_p.D218del|HNRNPC_ENST00000553300.1_In_Frame_Del_p.D218del|HNRNPC_ENST00000449098.1_In_Frame_Del_p.D218del	p.D218del			P07910	HNRPC_HUMAN	Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)	7	3603_3605	-	all_cancers(95;0.00176)		231			Asp/Glu-rich (acidic).		D3DS19|D3DS22|P22628|Q53EX2|Q59FD3|Q5FWE8|Q86SF8|Q86U45|Q96HK7|Q96HM4|Q96IY5|Q9BTS3	In_Frame_Del	DEL	ENST00000320084.7	37	c.652_654delGAT	CCDS41915.1																																																																																				0.512	HNRNPC-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410235.1			7	13						7	13	---	---	---	---
PPP1R37	284352	broad.mit.edu	37	19	45648903	45648903	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr19:45648903delC	ENST00000221462.4	+	11	1953	c.1589delC	c.(1588-1590)gccfs	p.A530fs	PPP1R37_ENST00000421905.1_Frame_Shift_Del_p.A526fs	NM_019121.1	NP_061994.1	O75864	PPR37_HUMAN	protein phosphatase 1, regulatory subunit 37	530	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										CCCTGTCCTGCCCTGGTGCCC	0.706																																						ENST00000221462.4																			0											c.(1588-1590)gcfs		protein phosphatase 1, regulatory subunit 37																																				SO:0001589	frameshift_variant	284352							g.chr19:45648903delC	BC035704	CCDS56096.1	19q13.32	2012-04-17	2011-10-11	2011-10-11	ENSG00000104866	ENSG00000104866		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	27607	protein-coding gene	gene with protein product			"""leucine rich repeat containing 68"""	LRRC68		12477932	Standard	NM_019121		Approved		uc021uvs.1	O75864	OTTHUMG00000168143	ENST00000221462.4:c.1589delC	19.37:g.45648903delC	ENSP00000221462:p.Ala530fs					PPP1R37_ENST00000421905.1_Frame_Shift_Del_p.A526fs	p.A530fs	NM_019121.1	NP_061994.1	B5MDA4	B5MDA4_HUMAN			11	1953	+			530					B5MDA4|Q8IWK3|Q8TF16	Frame_Shift_Del	DEL	ENST00000221462.4	37	c.1589delC	CCDS56096.1																																																																																				0.706	PPP1R37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398356.2	NM_173634		2	4						2	4	---	---	---	---
