#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
AIMP2	7965	broad.mit.edu	37	7	6049111	6049111	+	Silent	SNP	G	G	A	rs566052179		TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr7:6049111G>A	ENST00000223029.3	+	1	236	c.117G>A	c.(115-117)ccG>ccA	p.P39P	PMS2_ENST00000469652.1_5'Flank|AIMP2_ENST00000395236.2_Silent_p.P39P|PMS2_ENST00000406569.3_5'Flank|PMS2_ENST00000265849.7_5'Flank|PMS2_ENST00000382321.4_5'Flank|AIMP2_ENST00000400479.2_Intron	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	39					apoptotic process (GO:0006915)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|tRNA aminoacylation for protein translation (GO:0006418)|Type II pneumocyte differentiation (GO:0060510)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						GCCCAGCGCCGGGCGCTGGCC	0.761													g|||	1	0.000199681	0.0008	0.0	5008	,	,		10492	0.0		0.0	False		,,,				2504	0.0					ENST00000223029.3																			0				large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(115-117)ccG>ccA		aminoacyl tRNA synthetase complex-interacting multifunctional protein 2							18.0	20.0	19.0					7																	6049111		2185	4253	6438	SO:0001819	synonymous_variant	7965				apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding	g.chr7:6049111G>A	U24169	CCDS5344.1	7p22.1	2009-05-29			ENSG00000106305	ENSG00000106305			20609	protein-coding gene	gene with protein product		600859				8666379, 18695251	Standard	NM_006303		Approved	p38, PRO0992, JTV-1, JTV1	uc003spo.3	Q13155	OTTHUMG00000122077	ENST00000223029.3:c.117G>A	7.37:g.6049111G>A						AIMP2_ENST00000400479.2_Intron|AIMP2_ENST00000395236.2_Silent_p.P39P	p.P39P	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN			1	236	+			39					Q75MR1|Q96CZ5|Q9P1L2	Silent	SNP	ENST00000223029.3	37	c.117G>A	CCDS5344.1																																																																																				0.761	AIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242834.2	NM_006303		4	102	0	0	0	1	0	4	102				
CT47A6	728062	broad.mit.edu	37	X	120094386	120094386	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chrX:120094386G>T	ENST00000443600.2	-	1	951	c.697C>A	c.(697-699)Cca>Aca	p.P233T	CT47A5_ENST00000419194.2_Intron	NM_001080141.1	NP_001073610.1	Q5JQC4	CT47A_HUMAN	cancer/testis antigen family 47, member A6	233										large_intestine(1)|lung(4)	5						TCTGTGGCTGGTTCCTCTGCG	0.687																																						ENST00000443600.2																			0				large_intestine(1)|lung(4)	5						c.(697-699)Cca>Aca		cancer/testis antigen family 47, member A6							18.0	60.0	49.0					X																	120094386		880	2533	3413	SO:0001583	missense	728062							g.chrX:120094386G>T		CCDS35386.1	Xq24	2013-10-15			ENSG00000226023	ENSG00000226023			33287	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 6"""	300785				16382448	Standard	NM_001080141		Approved	CT47.6	uc004eth.3	Q5JQC4	OTTHUMG00000022316	ENST00000443600.2:c.697C>A	X.37:g.120094386G>T	ENSP00000415974:p.Pro233Thr					CT47A5_ENST00000419194.2_Intron	p.P233T	NM_001080141.1	NP_001073610.1	Q5JQC4	CT47A_HUMAN			1	951	-			233					Q8N747	Missense_Mutation	SNP	ENST00000443600.2	37	c.697C>A	CCDS35386.1	.	.	.	.	.	.	.	.	.	.	-	0.019	-1.457179	0.01071	.	.	ENSG00000226023	ENST00000443600	.	.	.	0.567	-1.13	0.09775	.	.	.	.	.	T	0.18215	0.0437	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.20940	-1.0260	4	0.23891	T	0.37	.	.	.	.	.	.	.	.	T	233	.	ENSP00000415974:P233T	P	-	1	0	CT47A6	119922067	0.020000	0.18652	0.000000	0.03702	0.002000	0.02628	1.156000	0.31712	-1.494000	0.01833	-1.350000	0.01237	CCA		0.687	CT47A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058129.1	NM_001080141		4	11	1	0	0.150653	1	0.153728	4	11				
INPP5D	3635	broad.mit.edu	37	2	234112925	234112925	+	Silent	SNP	G	G	A	rs372583486		TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr2:234112925G>A	ENST00000359570.5	+	28	3093	c.3093G>A	c.(3091-3093)ccG>ccA	p.P1031P	INPP5D_ENST00000455936.2_Silent_p.P795P|INPP5D_ENST00000450745.1_Silent_p.P795P|RN7SL32P_ENST00000580514.1_RNA			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	1043	Pro-rich.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)	p.P1043P(1)		central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CCAAAATGCCGCGGAAGGAAC	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		14783	0.001		0.0	False		,,,				2504	0.0				NSCLC(82;1215 1426 16163 20348 41018)	ENST00000359570.5																			1	Substitution - coding silent(1)	p.P1043P(1)	endometrium(1)	central_nervous_system(1)|ovary(1)	2						c.(3091-3093)ccG>ccA		inositol polyphosphate-5-phosphatase, 145kDa		G	,	1,3827		0,1,1913	34.0	45.0	42.0		2389,2389	2.0	0.3	2		42	1,8223		0,1,4111	no	coding-synonymous,coding-synonymous	INPP5D	NM_001017915.1,NM_005541.3	,	0,2,6024	AA,AG,GG		0.0122,0.0261,0.0166	,	1043/1190,1042/1189	234112925	2,12050	1914	4112	6026	SO:0001819	synonymous_variant	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234112925G>A	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.3093G>A	2.37:g.234112925G>A						INPP5D_ENST00000455936.2_Missense_Mutation_p.795_795insP|INPP5D_ENST00000450745.1_Missense_Mutation_p.795_795insP	p.1031_1031insP			Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	28	3093	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	0			Pro-rich.		O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37	c.3093G>A																																																																																					0.647	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		63	65	0	0	0	1	0	63	65				
MET	4233	broad.mit.edu	37	7	116414969	116414969	+	Silent	SNP	C	C	T			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr7:116414969C>T	ENST00000318493.6	+	15	3304	c.3117C>T	c.(3115-3117)tgC>tgT	p.C1039C	MET_ENST00000397752.3_Silent_p.C1021C|MET_ENST00000539704.1_5'Flank			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			ACGGTTCATGCCGACAAGTGC	0.413			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"""papillary renal, head-neck squamous cell """		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(3061-3063)tgC>tgT		met proto-oncogene							113.0	112.0	112.0					7																	116414969		2038	4211	6249	SO:0001819	synonymous_variant	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116414969C>T	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.3117C>T	7.37:g.116414969C>T						MET_ENST00000318493.6_Silent_p.C1039C	p.C1021C	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		15	3263	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	1021					A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	ENST00000318493.6	37	c.3063C>T	CCDS47689.1																																																																																				0.413	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			5	229	0	0	0	1	0	5	229				
RYR1	6261	broad.mit.edu	37	19	38991258	38991258	+	Missense_Mutation	SNP	G	G	A	rs375148516		TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr19:38991258G>A	ENST00000359596.3	+	46	7336	c.7336G>A	c.(7336-7338)Ggc>Agc	p.G2446S	RYR1_ENST00000360985.3_Missense_Mutation_p.G2446S|RYR1_ENST00000355481.4_Missense_Mutation_p.G2446S			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2446	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	AATCCAAGCCGGCAAGGGTGA	0.637																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(7336-7338)Ggc>Agc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)	G	SER/GLY,SER/GLY	0,4406		0,0,2203	55.0	50.0	52.0		7336,7336	1.8	1.0	19		52	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RYR1	NM_000540.2,NM_001042723.1	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	2446/5039,2446/5034	38991258	1,13005	2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38991258G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.7336G>A	19.37:g.38991258G>A	ENSP00000352608:p.Gly2446Ser					RYR1_ENST00000359596.3_Missense_Mutation_p.G2446S|RYR1_ENST00000360985.3_Missense_Mutation_p.G2446S	p.G2446S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		46	7467	+	all_cancers(60;7.91e-06)		2446			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.7336G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.283255	0.23392	0.0	1.16E-4	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.99113	-5.44;-5.44;-5.44	3.99	1.78	0.24846	.	0.000000	0.64402	U	0.000003	D	0.98520	0.9506	M	0.81802	2.56	0.42174	D	0.991655	D;P	0.54047	0.964;0.94	P;B	0.49637	0.617;0.413	D	0.97374	0.9978	10	0.72032	D	0.01	.	12.3244	0.55003	0.0:0.1274:0.7397:0.133	.	2446;2446	P21817-2;P21817	.;RYR1_HUMAN	S	2446	ENSP00000352608:G2446S;ENSP00000347667:G2446S;ENSP00000354254:G2446S	ENSP00000347667:G2446S	G	+	1	0	RYR1	43683098	1.000000	0.71417	0.978000	0.43139	0.212000	0.24457	7.700000	0.84556	0.017000	0.15025	-2.712000	0.00134	GGC		0.637	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			36	42	0	0	0	1	0	36	42				
AMMECR1	9949	broad.mit.edu	37	X	109561295	109561295	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chrX:109561295G>A	ENST00000262844.5	-	1	172	c.5C>T	c.(4-6)gCg>gTg	p.A2V	AMMECR1_ENST00000372059.2_Missense_Mutation_p.A2V|AMMECR1_ENST00000372057.1_Intron|AMMECR1_ENST00000496695.1_5'Flank	NM_015365.2	NP_056180.1	Q9Y4X0	AMMR1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	2										large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						GCAACCCGCCGCCATCTTGGA	0.706																																						ENST00000262844.5																			0				large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						c.(4-6)gCg>gTg		Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1							11.0	8.0	9.0					X																	109561295		1810	3543	5353	SO:0001583	missense	9949							g.chrX:109561295G>A	AJ007014	CCDS14551.1, CCDS35368.1, CCDS55476.1	Xq22.3	2014-06-17	2008-09-12		ENSG00000101935	ENSG00000101935			467	protein-coding gene	gene with protein product		300195				10049589, 9480748	Standard	NM_001171689		Approved		uc004eoo.3	Q9Y4X0	OTTHUMG00000022197	ENST00000262844.5:c.5C>T	X.37:g.109561295G>A	ENSP00000262844:p.Ala2Val					AMMECR1_ENST00000372057.1_Intron|AMMECR1_ENST00000372059.2_Missense_Mutation_p.A2V	p.A2V	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN			1	172	-			2					Q5JYV9|Q6P9D8|Q8WX22|Q9UIQ8	Missense_Mutation	SNP	ENST00000262844.5	37	c.5C>T	CCDS14551.1	.	.	.	.	.	.	.	.	.	.	g	21.2	4.108550	0.77096	.	.	ENSG00000101935	ENST00000262844;ENST00000372059	.	.	.	4.01	4.01	0.46588	.	0.056786	0.64402	D	0.000001	T	0.68458	0.3003	L	0.46157	1.445	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.97	T	0.68104	-0.5497	8	.	.	.	0.38	15.2641	0.73649	0.0:0.0:1.0:0.0	.	2;2	Q9Y4X0-3;Q9Y4X0	.;AMER1_HUMAN	V	2	.	.	A	-	2	0	AMMECR1	109447951	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	6.719000	0.74718	1.855000	0.53841	0.151000	0.16131	GCG		0.706	AMMECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057907.1			7	17	0	0	0	1	0	7	17				
SLC9A4	389015	broad.mit.edu	37	2	103141552	103141552	+	Missense_Mutation	SNP	C	C	T	rs201264205		TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr2:103141552C>T	ENST00000295269.4	+	10	2345	c.1888C>T	c.(1888-1890)Cgc>Tgc	p.R630C		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	630					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GATTCTGATCCGCCGCCAGAA	0.502																																						ENST00000295269.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1888-1890)Cgc>Tgc		solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4		C	CYS/ARG	0,4406		0,0,2203	159.0	166.0	164.0		1888	5.8	1.0	2		164	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLC9A4	NM_001011552.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	630/799	103141552	1,13005	2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103141552C>T		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.1888C>T	2.37:g.103141552C>T	ENSP00000295269:p.Arg630Cys						p.R630C	NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN			10	2345	+			630					Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.1888C>T	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.073447	0.76415	0.0	1.16E-4	ENSG00000180251	ENST00000295269	T	0.48201	0.82	5.84	5.84	0.93424	.	0.153751	0.56097	D	0.000026	T	0.56124	0.1964	M	0.86268	2.805	0.58432	D	0.999996	B	0.32350	0.366	B	0.28916	0.096	T	0.61163	-0.7118	10	0.62326	D	0.03	.	18.9173	0.92510	0.0:1.0:0.0:0.0	.	630	Q6AI14	SL9A4_HUMAN	C	630	ENSP00000295269:R630C	ENSP00000295269:R630C	R	+	1	0	SLC9A4	102507984	1.000000	0.71417	1.000000	0.80357	0.550000	0.35303	4.751000	0.62169	2.765000	0.95021	0.643000	0.83706	CGC		0.502	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		158	213	0	0	0	1	0	158	213				
NLRP4	147945	broad.mit.edu	37	19	56370141	56370141	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr19:56370141C>T	ENST00000301295.6	+	3	1804	c.1382C>T	c.(1381-1383)gCc>gTc	p.A461V	NLRP4_ENST00000346986.5_Missense_Mutation_p.A461V|NLRP4_ENST00000587891.1_Missense_Mutation_p.A386V	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	461	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TTCTGTGCCGCCTTGTTCTAT	0.512																																						ENST00000301295.6																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(1381-1383)gCc>gTc		NLR family, pyrin domain containing 4							147.0	143.0	144.0					19																	56370141		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56370141C>T	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1382C>T	19.37:g.56370141C>T	ENSP00000301295:p.Ala461Val					NLRP4_ENST00000346986.5_Missense_Mutation_p.A461V|NLRP4_ENST00000587891.1_Missense_Mutation_p.A386V	p.A461V	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	1804	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	461			NACHT.		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.1382C>T	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.666303	0.47677	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.90133	-2.62;-2.62	4.1	3.05	0.35203	.	.	.	.	.	D	0.94614	0.8264	M	0.84156	2.68	0.34283	D	0.682379	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.967;1.0;0.998	D	0.95699	0.8747	9	0.72032	D	0.01	.	9.7717	0.40593	0.0:0.8964:0.0:0.1036	.	461;386;461	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	V	461	ENSP00000301295:A461V;ENSP00000344787:A461V	ENSP00000301295:A461V	A	+	2	0	NLRP4	61061953	0.996000	0.38824	0.039000	0.18376	0.104000	0.19210	3.944000	0.56629	1.061000	0.40601	0.655000	0.94253	GCC		0.512	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		33	137	0	0	0	1	0	33	137				
AMELX	265	broad.mit.edu	37	X	11316389	11316389	+	Missense_Mutation	SNP	A	A	T			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chrX:11316389A>T	ENST00000380714.3	+	4	204	c.136A>T	c.(136-138)Agg>Tgg	p.R46W	ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000380736.1_Intron|AMELX_ENST00000348912.4_Missense_Mutation_p.R30W|AMELX_ENST00000380712.3_Missense_Mutation_p.R60W	NM_001142.2	NP_001133.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	46					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|enamel mineralization (GO:0070166)|epithelial to mesenchymal transition (GO:0001837)|ion homeostasis (GO:0050801)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of tooth mineralization (GO:0070172)|signal transduction (GO:0007165)|tooth mineralization (GO:0034505)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|structural constituent of tooth enamel (GO:0030345)			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						CCAGAGCATAAGGCCACCGGT	0.353																																						ENST00000380712.3																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						c.(178-180)Agg>Tgg		amelogenin, X-linked							193.0	195.0	194.0					X																	11316389		2203	4300	6503	SO:0001583	missense	265				cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel	g.chrX:11316389A>T		CCDS14144.1, CCDS14145.1, CCDS14146.1	Xp22.31-p22.1	2010-04-20	2010-04-20		ENSG00000125363	ENSG00000125363			461	protein-coding gene	gene with protein product	"""amelogenesis imperfecta 1"""	300391	"""amelogenin (X chromosome, amelogenesis imperfecta 1)"""	AMG, AIH1		1734713	Standard	NM_182680		Approved		uc004cus.3	Q99217	OTTHUMG00000021130	ENST00000380714.3:c.136A>T	X.37:g.11316389A>T	ENSP00000370090:p.Arg46Trp					ARHGAP6_ENST00000337414.4_Intron|AMELX_ENST00000348912.4_Missense_Mutation_p.R30W|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000380736.1_Intron|AMELX_ENST00000380714.3_Missense_Mutation_p.R46W	p.R60W	NM_182680.1	NP_872621.1	Q99217	AMELX_HUMAN			5	246	+			46					Q96NW6|Q9UCA7	Missense_Mutation	SNP	ENST00000380714.3	37	c.178A>T	CCDS14144.1	.	.	.	.	.	.	.	.	.	.	A	16.50	3.140581	0.56936	.	.	ENSG00000125363	ENST00000380714;ENST00000380712;ENST00000348912	D;D;D	0.89485	-2.52;-2.52;-2.52	5.32	2.73	0.32206	.	0.091236	0.44688	D	0.000430	D	0.92446	0.7602	M	0.82323	2.585	0.30531	N	0.767462	B;B;D	0.89917	0.0;0.001;1.0	B;B;D	0.97110	0.003;0.005;1.0	D	0.87565	0.2474	10	0.87932	D	0	3.813	2.3662	0.04319	0.5622:0.2093:0.0917:0.1368	.	30;46;60	Q99217-2;Q99217;Q99217-3	.;AMELX_HUMAN;.	W	46;60;30	ENSP00000370090:R46W;ENSP00000370088:R60W;ENSP00000335312:R30W	ENSP00000335312:R30W	R	+	1	2	AMELX	11226310	1.000000	0.71417	0.999000	0.59377	0.936000	0.57629	1.013000	0.29937	0.748000	0.32831	0.412000	0.27726	AGG		0.353	AMELX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055746.1	NM_001142		5	482	0	0	0	1	0	5	482				
PDGFRA	5156	broad.mit.edu	37	4	55133872	55133872	+	Missense_Mutation	SNP	A	A	C			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr4:55133872A>C	ENST00000257290.5	+	7	1416	c.1085A>C	c.(1084-1086)gAg>gCg	p.E362A	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	362	Ig-like C2-type 4.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	AATCTCACTGAGATCACCACT	0.443			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"""Mis, O, T"""	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(1084-1086)gAg>gCg		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						46.0	44.0	45.0					4																	55133872		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55133872A>C	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1085A>C	4.37:g.55133872A>C	ENSP00000257290:p.Glu362Ala	TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Intron	p.E362A	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		7	1416	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		362			Ig-like C2-type 4.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.1085A>C	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.451741	0.84209	.	.	ENSG00000134853	ENST00000257290	T	0.54279	0.58	5.79	5.79	0.91817	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.000000	0.32459	U	0.006063	T	0.75064	0.3799	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.991;0.999	T	0.75803	-0.3189	10	0.34782	T	0.22	.	16.1296	0.81418	1.0:0.0:0.0:0.0	.	362;362	P16234-3;P16234	.;PGFRA_HUMAN	A	362	ENSP00000257290:E362A	ENSP00000257290:E362A	E	+	2	0	PDGFRA	54828629	1.000000	0.71417	0.997000	0.53966	0.877000	0.50540	7.951000	0.87819	2.216000	0.71823	0.379000	0.24179	GAG		0.443	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		12	93	0	0	0	1	0	12	93				
CIC	23152	broad.mit.edu	37	19	42791806	42791806	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr19:42791806G>T	ENST00000575354.2	+	5	732	c.692G>T	c.(691-693)aGc>aTc	p.S231I	CIC_ENST00000160740.3_Missense_Mutation_p.S231I|CIC_ENST00000572681.2_Missense_Mutation_p.S1140I	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	231					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CGGACCGTCAGCAAGATCCTG	0.622			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3418-3420)aGc>aTc		capicua transcriptional repressor							81.0	75.0	77.0					19																	42791806		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791806G>T	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.692G>T	19.37:g.42791806G>T	ENSP00000458663:p.Ser231Ile					CIC_ENST00000575354.2_Missense_Mutation_p.S231I|CIC_ENST00000160740.3_Missense_Mutation_p.S231I	p.S1140I			Q96RK0	CIC_HUMAN			6	3487	+		Prostate(69;0.00682)	231			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3419G>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.232277	0.58777	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	D	0.87672	0.6236	H	0.97659	4.05	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.91853	0.5493	8	0.87932	D	0	-14.3951	14.5138	0.67807	0.0:0.0:1.0:0.0	.	231	Q96RK0	CIC_HUMAN	I	231	.	ENSP00000160740:S231I	S	+	2	0	CIC	47483646	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.372000	0.79612	2.284000	0.76573	0.555000	0.69702	AGC		0.622	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			45	40	1	0	5.37117e-13	1	6.10361e-13	45	40				
BCORL1	63035	broad.mit.edu	37	X	129149179	129149179	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chrX:129149179G>A	ENST00000218147.7	+	4	2628	c.2431G>A	c.(2431-2433)Gca>Aca	p.A811T	BCORL1_ENST00000540052.1_Missense_Mutation_p.A811T|BCORL1_ENST00000303743.5_Missense_Mutation_p.A811T|BCORL1_ENST00000359304.2_Missense_Mutation_p.A811T			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	811					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CACGGGGCCGGCAAATATTTA	0.572																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(2431-2433)Gca>Aca		BCL6 corepressor-like 1							47.0	52.0	50.0					X																	129149179		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129149179G>A	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.2431G>A	X.37:g.129149179G>A	ENSP00000218147:p.Ala811Thr					BCORL1_ENST00000359304.2_Missense_Mutation_p.A811T|BCORL1_ENST00000218147.7_Missense_Mutation_p.A811T|BCORL1_ENST00000303743.5_Missense_Mutation_p.A811T	p.A811T	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			3	2475	+			811					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.2431G>A	CCDS14616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	7.478|7.478	0.648157|0.648157	0.14516|0.14516	.|.	.|.	ENSG00000085185|ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822|ENST00000441294	T;T;T;T;T|.	0.41065|.	1.01;1.36;1.01;1.01;1.43|.	4.96|4.96	2.15|2.15	0.27550|0.27550	.|.	0.215417|.	0.23510|.	N|.	0.047406|.	T|T	0.14227|0.14227	0.0344|0.0344	N|N	0.03608|0.03608	-0.345|-0.345	0.18873|0.18873	N|N	0.999984|0.999984	B;B|.	0.25169|.	0.119;0.005|.	B;B|.	0.25506|.	0.061;0.005|.	T|T	0.29671|0.29671	-1.0004|-1.0004	10|5	0.09590|.	T|.	0.72|.	-0.8515|-0.8515	6.7146|6.7146	0.23296|0.23296	0.3271:0.0:0.6729:0.0|0.3271:0.0:0.6729:0.0	.|.	811;811|.	Q5H9F3-2;Q5H9F3|.	.;BCORL_HUMAN|.	T|D	811;811;811;811;411|246	ENSP00000218147:A811T;ENSP00000307541:A811T;ENSP00000352253:A811T;ENSP00000437775:A811T;ENSP00000399483:A411T|.	ENSP00000218147:A811T|.	A|G	+|+	1|2	0|0	BCORL1|BCORL1	128976860|128976860	0.975000|0.975000	0.34042|0.34042	0.383000|0.383000	0.26132|0.26132	0.990000|0.990000	0.78478|0.78478	1.225000|1.225000	0.32551|0.32551	0.016000|0.016000	0.14998|0.14998	0.431000|0.431000	0.28591|0.28591	GCA|GGC		0.572	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		4	249	0	0	0	1	0	4	249				
PXK	54899	broad.mit.edu	37	3	58368278	58368278	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr3:58368278T>C	ENST00000356151.2	+	4	348	c.239T>C	c.(238-240)tTg>tCg	p.L80S	PXK_ENST00000302779.5_Missense_Mutation_p.L63S|PXK_ENST00000383715.4_Missense_Mutation_p.L63S|PXK_ENST00000479241.1_Missense_Mutation_p.L63S|PXK_ENST00000484288.1_Missense_Mutation_p.L80S|PXK_ENST00000536660.1_Intron|PXK_ENST00000463280.1_Missense_Mutation_p.L47S|PXK_ENST00000383716.3_Missense_Mutation_p.L47S	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase											cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		CCCAAAAAATTGATTGGTAAC	0.338																																						ENST00000463280.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(139-141)tTg>tCg		PX domain containing serine/threonine kinase							96.0	91.0	93.0					3																	58368278		2203	4300	6503	SO:0001583	missense	54899				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity	g.chr3:58368278T>C	AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.239T>C	3.37:g.58368278T>C	ENSP00000348472:p.Leu80Ser					PXK_ENST00000536660.1_Intron|PXK_ENST00000484288.1_Missense_Mutation_p.L80S|PXK_ENST00000383716.3_Missense_Mutation_p.L47S|PXK_ENST00000356151.2_Missense_Mutation_p.L80S|PXK_ENST00000479241.1_Missense_Mutation_p.L63S|PXK_ENST00000302779.5_Missense_Mutation_p.L63S|PXK_ENST00000383715.4_Missense_Mutation_p.L63S	p.L47S			Q7Z7A4	PXK_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)	2	231	+			80			PX.			Missense_Mutation	SNP	ENST00000356151.2	37	c.140T>C	CCDS2889.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.598298	0.87055	.	.	ENSG00000168297	ENST00000356151;ENST00000302779;ENST00000383716;ENST00000463280;ENST00000383715;ENST00000484288;ENST00000479241;ENST00000491164	T;T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18	5.76	5.76	0.90799	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.56156	0.1966	L	0.55990	1.75	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;0.998;0.994;1.0;0.999;0.998	D;D;D;D;D;D	0.72338	0.977;0.948;0.917;0.977;0.961;0.918	T	0.58160	-0.7685	10	0.72032	D	0.01	-8.9219	16.0916	0.81094	0.0:0.0:0.0:1.0	.	47;47;47;80;63;80	E9PD56;Q7Z7A4-6;B4DID9;Q7Z7A4;Q7Z7A4-4;Q7Z7A4-2	.;.;.;PXK_HUMAN;.;.	S	80;63;47;47;63;80;63;71	ENSP00000348472:L80S;ENSP00000305045:L63S;ENSP00000373222:L47S;ENSP00000417903:L47S;ENSP00000373221:L63S;ENSP00000417915:L80S;ENSP00000419049:L63S;ENSP00000418831:L71S	ENSP00000305045:L63S	L	+	2	0	PXK	58343318	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.466000	0.80914	2.186000	0.69663	0.533000	0.62120	TTG		0.338	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353499.1	NM_017771		12	123	0	0	0	1	0	12	123				
DHX15	1665	broad.mit.edu	37	4	24578065	24578065	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr4:24578065G>A	ENST00000336812.4	-	2	464	c.308C>T	c.(307-309)gCc>gTc	p.A103V		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	103					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				TGCATGTCCGGCATGCGTTGA	0.458																																						ENST00000336812.4																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(307-309)gCc>gTc		DEAH (Asp-Glu-Ala-His) box helicase 15							312.0	292.0	299.0					4																	24578065		2203	4300	6503	SO:0001583	missense	1665				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr4:24578065G>A	AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"""DEAH-boxes"""	2738	protein-coding gene	gene with protein product		603403	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 15"""	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.308C>T	4.37:g.24578065G>A	ENSP00000336741:p.Ala103Val						p.A103V	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN			2	464	-		Breast(46;0.0503)	103					Q9NQT7	Missense_Mutation	SNP	ENST00000336812.4	37	c.308C>T	CCDS33966.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.108091	0.56291	.	.	ENSG00000109606	ENST00000336812;ENST00000535946	T	0.09723	2.95	5.43	5.43	0.79202	.	0.196562	0.36134	N	0.002763	T	0.06325	0.0163	N	0.08118	0	0.25391	N	0.988529	B	0.09022	0.002	B	0.12156	0.007	T	0.35126	-0.9801	10	0.17832	T	0.49	-28.5097	14.769	0.69662	0.0:0.0:1.0:0.0	.	103	O43143	DHX15_HUMAN	V	103;92	ENSP00000336741:A103V	ENSP00000336741:A103V	A	-	2	0	DHX15	24187163	0.994000	0.37717	0.794000	0.32065	0.149000	0.21700	4.489000	0.60309	2.546000	0.85860	0.655000	0.94253	GCC		0.458	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360143.1	NM_001358		4	208	0	0	0	1	0	4	208				
C20orf194	25943	broad.mit.edu	37	20	3268422	3268422	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr20:3268422C>T	ENST00000252032.9	-	27	2409	c.2342G>A	c.(2341-2343)cGc>cAc	p.R781H	C20orf194_ENST00000453730.2_Silent_p.S489S	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	781								p.R781H(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						CATGATTTGGCGATACACCAT	0.522																																						ENST00000252032.9																			1	Substitution - Missense(1)	p.R781H(1)	endometrium(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						c.(2341-2343)cGc>cAc		chromosome 20 open reading frame 194							108.0	105.0	106.0					20																	3268422		1978	4173	6151	SO:0001583	missense	25943							g.chr20:3268422C>T	AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.2342G>A	20.37:g.3268422C>T	ENSP00000252032:p.Arg781His					C20orf194_ENST00000453730.2_Silent_p.S489S	p.R781H	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN			27	2409	-			781					Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	ENST00000252032.9	37	c.2342G>A	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.576353	0.86645	.	.	ENSG00000088854	ENST00000252032	T	0.23950	1.88	4.79	4.79	0.61399	.	0.130953	0.50627	D	0.000116	T	0.49029	0.1533	M	0.64997	1.995	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.50065	-0.8871	10	0.66056	D	0.02	.	16.7639	0.85519	0.0:1.0:0.0:0.0	.	520;781	Q0IIP3;Q5TEA3	.;CT194_HUMAN	H	781	ENSP00000252032:R781H	ENSP00000252032:R781H	R	-	2	0	C20orf194	3216422	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.269000	0.58890	2.485000	0.83878	0.650000	0.86243	CGC		0.522	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984		4	195	0	0	0	1	0	4	195				
RECQL5	9400	broad.mit.edu	37	17	73658663	73658663	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr17:73658663C>T	ENST00000317905.5	-	4	826	c.667G>A	c.(667-669)Gcc>Acc	p.A223T	RECQL5_ENST00000423245.2_Missense_Mutation_p.A196T|RECQL5_ENST00000420326.2_Missense_Mutation_p.A223T|RECQL5_ENST00000340830.5_Missense_Mutation_p.A223T|RECQL5_ENST00000584999.1_Missense_Mutation_p.A223T	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	223					chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			AAGAGGTTGGCCCGGAAGCAG	0.532								Other identified genes with known or suspected DNA repair function																														ENST00000420326.2																			0				breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36						c.(667-669)Gcc>Acc	Other identified genes with known or suspected DNA repair function	RecQ protein-like 5							227.0	238.0	234.0					17																	73658663		2203	4300	6503	SO:0001583	missense	9400				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	g.chr17:73658663C>T	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.667G>A	17.37:g.73658663C>T	ENSP00000317636:p.Ala223Thr					RECQL5_ENST00000340830.5_Missense_Mutation_p.A223T|RECQL5_ENST00000317905.5_Missense_Mutation_p.A223T|RECQL5_ENST00000584999.1_Missense_Mutation_p.A223T|RECQL5_ENST00000423245.2_Missense_Mutation_p.A196T	p.A223T	NM_001003715.3|NM_001003716.3	NP_001003715.1|NP_001003716.1	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		4	826	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		223					Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	37	c.667G>A	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.036276	0.35893	.	.	ENSG00000108469	ENST00000423245;ENST00000317905;ENST00000420326;ENST00000340830	T;T;T	0.56776	0.44;0.7;0.69	5.51	4.51	0.55191	DEAD-like helicase (1);	0.314786	0.39083	N	0.001462	T	0.41994	0.1183	L	0.31065	0.9	0.33001	D	0.526204	B;B;B	0.29716	0.255;0.255;0.082	B;B;B	0.29862	0.108;0.075;0.037	T	0.57476	-0.7805	10	0.66056	D	0.02	-8.056	12.8515	0.57860	0.4452:0.5548:0.0:0.0	.	223;196;223	O94762;Q6P4G0;O94762-3	RECQ5_HUMAN;.;.	T	223	ENSP00000317636:A223T;ENSP00000414933:A223T;ENSP00000341983:A223T	ENSP00000317636:A223T	A	-	1	0	RECQL5	71170258	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.748000	0.47483	1.420000	0.47138	0.555000	0.69702	GCC		0.532	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259		5	602	0	0	0	1	0	5	602				
CIC	23152	broad.mit.edu	37	19	42791718	42791718	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr19:42791718C>T	ENST00000575354.2	+	5	644	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	CIC_ENST00000160740.3_Missense_Mutation_p.R202W|CIC_ENST00000572681.2_Missense_Mutation_p.R1111W	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	202					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R202W(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCACATCCGGCGGCCCATGAA	0.622			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		1	Substitution - Missense(1)	p.R202W(1)	central_nervous_system(1)	autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3331-3333)Cgg>Tgg		capicua transcriptional repressor							63.0	67.0	66.0					19																	42791718		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791718C>T	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.604C>T	19.37:g.42791718C>T	ENSP00000458663:p.Arg202Trp					CIC_ENST00000575354.2_Missense_Mutation_p.R202W|CIC_ENST00000160740.3_Missense_Mutation_p.R202W	p.R1111W			Q96RK0	CIC_HUMAN			6	3399	+		Prostate(69;0.00682)	202			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3331C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.590136	0.46214	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	3.33	0.38152	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	D	0.88273	0.6392	H	0.99238	4.48	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	D	0.90719	0.4633	8	0.87932	D	0	-13.7219	11.1765	0.48603	0.1853:0.8147:0.0:0.0	.	202	Q96RK0	CIC_HUMAN	W	202	.	ENSP00000160740:R202W	R	+	1	2	CIC	47483558	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.703000	0.37846	1.030000	0.39839	0.555000	0.69702	CGG		0.622	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			10	50	0	0	0	1	0	10	50				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			75	95	0	0	0	1	0	75	95				
TYW1	55253	broad.mit.edu	37	7	66479413	66479413	+	Silent	SNP	T	T	C			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr7:66479413T>C	ENST00000359626.5	+	5	599	c.435T>C	c.(433-435)acT>acC	p.T145T		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	145	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)	p.T145T(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				GCCTACCAACTGAAAGTGCAG	0.428																																						ENST00000359626.5																			1	Substitution - coding silent(1)	p.T145T(1)	urinary_tract(1)	breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46						c.(433-435)acT>acC		tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)																																				SO:0001819	synonymous_variant	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66479413T>C	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.435T>C	7.37:g.66479413T>C							p.T145T	NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN			5	599	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	145			Flavodoxin-like.		Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Silent	SNP	ENST00000359626.5	37	c.435T>C	CCDS5538.1																																																																																				0.428	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		4	274	0	0	0	1	0	4	274				
GRIP1	23426	broad.mit.edu	37	12	66909479	66909479	+	Missense_Mutation	SNP	G	G	A	rs141923622		TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr12:66909479G>A	ENST00000398016.3	-	7	712	c.644C>T	c.(643-645)aCg>aTg	p.T215M	GRIP1_ENST00000286445.7_Missense_Mutation_p.T215M|GRIP1_ENST00000359742.4_Missense_Mutation_p.T215M	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TTCAGCATGCGTAGTTCCAAG	0.453																																						ENST00000359742.4																			0				NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50						c.(643-645)aCg>aTg		glutamate receptor interacting protein 1		G	MET/THR,MET/THR	0,3926		0,0,1963	169.0	170.0	170.0		644,644	5.8	1.0	12	dbSNP_134	170	1,8313		0,1,4156	no	missense,missense	GRIP1	NM_001178074.1,NM_021150.3	81,81	0,1,6119	AA,AG,GG		0.012,0.0,0.0082	probably-damaging,probably-damaging	215/1062,215/1077	66909479	1,12239	1963	4157	6120	SO:0001583	missense	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66909479G>A	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.644C>T	12.37:g.66909479G>A	ENSP00000381098:p.Thr215Met					GRIP1_ENST00000398016.3_Missense_Mutation_p.T215M|GRIP1_ENST00000286445.7_Missense_Mutation_p.T215M	p.T215M			Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	7	884	-			215			PDZ 2.		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.644C>T	CCDS41807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.8|21.8	4.208646|4.208646	0.79240|0.79240	0.0|0.0	1.2E-4|1.2E-4	ENSG00000155974|ENSG00000155974	ENST00000538164|ENST00000398016;ENST00000359742;ENST00000286445;ENST00000540854;ENST00000538211;ENST00000540433;ENST00000536215;ENST00000545666	.|T;T;T;T;T;T;T;T	.|0.21734	.|1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99	5.77|5.77	5.77|5.77	0.91146|0.91146	.|PDZ/DHR/GLGF (4);	.|0.050048	.|0.85682	.|D	.|0.000000	T|T	0.52125|0.52125	0.1715|0.1715	M|M	0.82716|0.82716	2.605|2.605	0.58432|0.58432	D|D	0.999995|0.999995	.|D;D;D	.|0.89917	.|0.999;1.0;0.999	.|P;D;D	.|0.71184	.|0.761;0.972;0.935	T|T	0.51585|0.51585	-0.8687|-0.8687	5|9	.|.	.|.	.|.	-15.0665|-15.0665	19.9791|19.9791	0.97320|0.97320	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|215;215;215	.|F5H4N6;Q9Y3R0;Q9Y3R0-3	.|.;GRIP1_HUMAN;.	C|M	30|215;215;215;86;215;159;159;188	.|ENSP00000381098:T215M;ENSP00000352780:T215M;ENSP00000286445:T215M;ENSP00000443006:T86M;ENSP00000446047:T215M;ENSP00000446024:T159M;ENSP00000446011:T159M;ENSP00000439124:T188M	.|.	R|T	-|-	1|2	0|0	GRIP1|GRIP1	65195746|65195746	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.858000|0.858000	0.48976|0.48976	6.223000|6.223000	0.72257|0.72257	2.733000|2.733000	0.93635|0.93635	0.585000|0.585000	0.79938|0.79938	CGC|ACG		0.453	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			67	171	0	0	0	1	0	67	171				
SBNO1	55206	broad.mit.edu	37	12	123780522	123780522	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr12:123780522G>A	ENST00000602398.1	-	32	4242	c.4115C>T	c.(4114-4116)gCg>gTg	p.A1372V	SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V|SBNO1_ENST00000420886.2_Missense_Mutation_p.A1372V|SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1372					regulation of transcription, DNA-templated (GO:0006355)			p.A1371V(2)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CTGTTGGACCGCAAGCTGTTG	0.433																																						ENST00000420886.2																			2	Substitution - Missense(2)	p.A1371V(2)	lung(1)|prostate(1)	NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(4114-4116)gCg>gTg		strawberry notch homolog 1 (Drosophila)							340.0	303.0	316.0					12																	123780522		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123780522G>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.4115C>T	12.37:g.123780522G>A	ENSP00000473665:p.Ala1372Val					SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V|SBNO1_ENST00000602398.1_Missense_Mutation_p.A1372V	p.A1372V	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	31	4114	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1372					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.4115C>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622923	0.87460	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.32515	1.45;1.45	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.959;0.981	T	0.12785	-1.0534	10	0.33940	T	0.23	-19.465	20.5792	0.99380	0.0:0.0:1.0:0.0	.	1372;1371	A3KN83;A3KN83-2	SBNO1_HUMAN;.	V	1372;1371	ENSP00000387361:A1372V;ENSP00000267176:A1371V	ENSP00000267176:A1371V	A	-	2	0	SBNO1	122346475	1.000000	0.71417	0.790000	0.31976	0.976000	0.68499	9.431000	0.97494	2.873000	0.98535	0.561000	0.74099	GCG		0.433	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		7	461	0	0	0	1	0	7	461				
PQLC3	130814	broad.mit.edu	37	2	11312154	11312154	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr2:11312154C>T	ENST00000295083.3	+	5	633	c.458C>T	c.(457-459)tCt>tTt	p.S153F	PQLC3_ENST00000402361.1_Intron|PQLC3_ENST00000476787.1_3'UTR|PQLC3_ENST00000441908.2_Missense_Mutation_p.S153F	NM_152391.3	NP_689604.1	Q8N755	PQLC3_HUMAN	PQ loop repeat containing 3	153						integral component of membrane (GO:0016021)				kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		TGGAGCCTCTCTTCCTATACC	0.507																																						ENST00000295083.3																			0				kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						c.(457-459)tCt>tTt		PQ loop repeat containing 3							100.0	94.0	96.0					2																	11312154		2203	4300	6503	SO:0001583	missense	130814					integral to membrane		g.chr2:11312154C>T	BC027625	CCDS1679.1, CCDS62856.1, CCDS62857.1	2p25.1	2004-02-05	2005-07-19	2005-07-19	ENSG00000162976	ENSG00000162976			28503	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 22"""	C2orf22		12477932	Standard	NM_001282711		Approved	MGC33602	uc002rbc.3	Q8N755	OTTHUMG00000119055	ENST00000295083.3:c.458C>T	2.37:g.11312154C>T	ENSP00000295083:p.Ser153Phe					PQLC3_ENST00000402361.1_Intron|PQLC3_ENST00000441908.2_Missense_Mutation_p.S153F|PQLC3_ENST00000476787.1_3'UTR	p.S153F	NM_152391.3	NP_689604.1	Q8N755	PQLC3_HUMAN		Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)	5	633	+	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)		153					B2R8K1|B4DWA4	Missense_Mutation	SNP	ENST00000295083.3	37	c.458C>T	CCDS1679.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.318424	0.60524	.	.	ENSG00000162976	ENST00000445402;ENST00000295083;ENST00000441908	D;T;D	0.88975	-2.45;-0.53;-2.09	5.95	5.95	0.96441	.	0.169796	0.53938	D	0.000059	D	0.89808	0.6822	M	0.71036	2.16	0.21386	N	0.999701	P;P	0.47409	0.895;0.836	P;P	0.47528	0.548;0.549	T	0.82246	-0.0552	10	0.09843	T	0.71	-25.5364	18.1662	0.89727	0.0:1.0:0.0:0.0	.	153;153	B4DWA4;Q8N755	.;PQLC3_HUMAN	F	176;153;153	ENSP00000410430:S176F;ENSP00000295083:S153F;ENSP00000406148:S153F	ENSP00000295083:S153F	S	+	2	0	PQLC3	11229605	1.000000	0.71417	0.012000	0.15200	0.371000	0.29859	6.127000	0.71642	2.824000	0.97209	0.655000	0.94253	TCT		0.507	PQLC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239266.4	NM_152391		5	183	0	0	0	1	0	5	183				
SLC20A1	6574	broad.mit.edu	37	2	113404716	113404716	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr2:113404716C>T	ENST00000272542.3	+	2	850	c.311C>T	c.(310-312)gCc>gTc	p.A104V	AC079922.3_ENST00000457336.1_lincRNA	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	104					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						CTGCTGATGGCCGGCTCAGTC	0.488																																						ENST00000272542.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						c.(310-312)gCc>gTc		solute carrier family 20 (phosphate transporter), member 1							166.0	143.0	151.0					2																	113404716		2203	4300	6503	SO:0001583	missense	6574				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	g.chr2:113404716C>T		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"""Solute carriers"""	10946	protein-coding gene	gene with protein product	"""gibbon ape leukemia virus receptor 1"""	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.311C>T	2.37:g.113404716C>T	ENSP00000272542:p.Ala104Val						p.A104V	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN			2	850	+			104					Q08344|Q6DHX8|Q9UQ82	Missense_Mutation	SNP	ENST00000272542.3	37	c.311C>T	CCDS2099.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.115963	0.56505	.	.	ENSG00000144136	ENST00000272542	D	0.90324	-2.65	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.91226	0.7235	L	0.54323	1.7	0.80722	D	1	B	0.33379	0.41	B	0.44224	0.444	D	0.88860	0.3325	10	0.32370	T	0.25	-14.4315	17.2043	0.86914	0.0:1.0:0.0:0.0	.	104	Q8WUM9	S20A1_HUMAN	V	104	ENSP00000272542:A104V	ENSP00000272542:A104V	A	+	2	0	SLC20A1	113121187	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	5.997000	0.70646	2.733000	0.93635	0.591000	0.81541	GCC		0.488	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415		4	131	0	0	0	1	0	4	131				
WDR37	22884	broad.mit.edu	37	10	1149739	1149739	+	Silent	SNP	C	C	T			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr10:1149739C>T	ENST00000358220.1	+	10	1068	c.924C>T	c.(922-924)taC>taT	p.Y308Y	WDR37_ENST00000263150.4_Silent_p.Y308Y			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	308										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		CAAACCTGTACGACGTGGAGA	0.612																																						ENST00000358220.1																			0				breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17						c.(922-924)taC>taT		WD repeat domain 37							56.0	50.0	52.0					10																	1149739		2203	4300	6503	SO:0001819	synonymous_variant	22884							g.chr10:1149739C>T	AB023199	CCDS7057.1	10p15.3	2013-01-09			ENSG00000047056	ENSG00000047056		"""WD repeat domain containing"""	31406	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_014023		Approved	KIAA0982	uc001igf.1	Q9Y2I8	OTTHUMG00000017540	ENST00000358220.1:c.924C>T	10.37:g.1149739C>T						WDR37_ENST00000263150.4_Silent_p.Y308Y	p.Y308Y			Q9Y2I8	WDR37_HUMAN		Epithelial(11;0.134)	10	1068	+		all_epithelial(10;0.0449)|Colorectal(49;0.142)	308					A8K976|D3DRQ7|Q5SW03|Q8WVG2|Q9NTJ6	Silent	SNP	ENST00000358220.1	37	c.924C>T	CCDS7057.1																																																																																				0.612	WDR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046418.1	NM_014023		39	48	0	0	0	1	0	39	48				
LPHN1	22859	broad.mit.edu	37	19	14266957	14266957	+	Silent	SNP	C	C	A			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr19:14266957C>A	ENST00000340736.6	-	18	3402	c.3105G>T	c.(3103-3105)gtG>gtT	p.V1035V	LPHN1_ENST00000361434.3_Silent_p.V1030V|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1035					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CGGGCTTGAGCACAGATGAGC	0.667																																						ENST00000340736.6																			0				central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(3103-3105)gtG>gtT		latrophilin 1							68.0	58.0	61.0					19																	14266957		2203	4299	6502	SO:0001819	synonymous_variant	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14266957C>A	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.3105G>T	19.37:g.14266957C>A						CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Silent_p.V1030V|CTB-55O6.12_ENST00000588387.1_RNA	p.V1035V	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN			18	3402	-			1035					Q96IE7|Q9BU07|Q9HAR3	Silent	SNP	ENST00000340736.6	37	c.3105G>T	CCDS32928.1																																																																																				0.667	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		4	36	1	0	2.56e-06	1	2.7234e-06	4	36				
FRMD4B	23150	broad.mit.edu	37	3	69230684	69230684	+	Silent	SNP	C	C	T			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr3:69230684C>T	ENST00000398540.3	-	21	2300	c.2217G>A	c.(2215-2217)gaG>gaA	p.E739E	FRMD4B_ENST00000478263.1_Silent_p.E391E|FRMD4B_ENST00000542259.1_Silent_p.E685E	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	739					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|ruffle (GO:0001726)				NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		CACAGTAATACTCTGTGCTTG	0.493																																						ENST00000542259.1																			0				NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19						c.(2053-2055)gaG>gaA		FERM domain containing 4B							121.0	116.0	118.0					3																	69230684		1910	4126	6036	SO:0001819	synonymous_variant	23150					cytoplasm|cytoskeleton	binding	g.chr3:69230684C>T	AL832231	CCDS46863.1	3p14.2	2006-04-12			ENSG00000114541	ENSG00000114541			24886	protein-coding gene	gene with protein product						10231032, 11445584	Standard	XM_005264720		Approved	KIAA1013, GRSP1	uc003dnv.2	Q9Y2L6	OTTHUMG00000158772	ENST00000398540.3:c.2217G>A	3.37:g.69230684C>T						FRMD4B_ENST00000398540.3_Silent_p.E739E|FRMD4B_ENST00000478263.1_Silent_p.E391E	p.E685E			Q9Y2L6	FRM4B_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)	22	2506	-		Lung NSC(201;0.0138)|Prostate(884;0.11)	739					Q8TAI3	Silent	SNP	ENST00000398540.3	37	c.2055G>A	CCDS46863.1																																																																																				0.493	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352111.1			65	160	0	0	0	1	0	65	160				
FOXA1	3169	broad.mit.edu	37	14	38061654	38061654	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr14:38061654C>T	ENST00000250448.2	-	2	396	c.335G>A	c.(334-336)gGc>gAc	p.G112D	FOXA1_ENST00000540786.1_Missense_Mutation_p.G79D|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	112					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GGCGCCCATGCCGCTCGGGCT	0.741																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(334-336)gGc>gAc		forkhead box A1							11.0	13.0	12.0					14																	38061654		2108	4116	6224	SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061654C>T	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.335G>A	14.37:g.38061654C>T	ENSP00000250448:p.Gly112Asp					FOXA1_ENST00000540786.1_Missense_Mutation_p.G79D|FOXA1_ENST00000545425.2_5'UTR	p.G112D	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	396	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		112					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.335G>A	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.116850	0.56505	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	T;T	0.21734	1.99;1.99	4.3	3.4	0.38934	Fork-head N-terminal (1);	0.482765	0.21660	N	0.071039	T	0.21103	0.0508	N	0.22421	0.69	0.32058	N	0.596029	B	0.34181	0.44	B	0.43413	0.419	T	0.26292	-1.0107	10	0.56958	D	0.05	.	13.2451	0.60018	0.1601:0.8399:0.0:0.0	.	112	P55317	FOXA1_HUMAN	D	112;79	ENSP00000250448:G112D;ENSP00000440178:G79D	ENSP00000250448:G112D	G	-	2	0	FOXA1	37131405	0.456000	0.25744	0.988000	0.46212	0.687000	0.40016	1.127000	0.31357	1.008000	0.39264	0.511000	0.50034	GGC		0.741	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			3	35	0	0	0	1	0	3	35				
HABP4	22927	broad.mit.edu	37	9	99250419	99250419	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr9:99250419G>A	ENST00000375249.4	+	7	1123	c.1048G>A	c.(1048-1050)Gcc>Acc	p.A350T	HABP4_ENST00000466976.1_3'UTR|HABP4_ENST00000375251.3_Missense_Mutation_p.A245T	NM_014282.2	NP_055097.2			hyaluronan binding protein 4											NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				CCGGAAACCCGCCAATGACAT	0.532																																						ENST00000375249.4																			0				NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						c.(1048-1050)Gcc>Acc		hyaluronan binding protein 4							143.0	139.0	140.0					9																	99250419		2203	4300	6503	SO:0001583	missense	22927				platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding	g.chr9:99250419G>A	AF241831	CCDS6719.1	9q22.3-q31	2008-02-05			ENSG00000130956	ENSG00000130956			17062	protein-coding gene	gene with protein product						9523163, 10887182	Standard	XM_005251812		Approved	IHABP4, SERBP1L	uc010msg.3	Q5JVS0	OTTHUMG00000020298	ENST00000375249.4:c.1048G>A	9.37:g.99250419G>A	ENSP00000364398:p.Ala350Thr					HABP4_ENST00000466976.1_3'UTR|HABP4_ENST00000375251.3_Missense_Mutation_p.A245T	p.A350T	NM_014282.2	NP_055097.2	Q5JVS0	HABP4_HUMAN			7	1123	+		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)	350						Missense_Mutation	SNP	ENST00000375249.4	37	c.1048G>A	CCDS6719.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542365	0.85917	.	.	ENSG00000130956	ENST00000375251;ENST00000375249	T;T	0.43294	0.95;0.95	5.02	4.07	0.47477	.	0.178176	0.49916	N	0.000121	T	0.58047	0.2095	M	0.61703	1.905	0.39536	D	0.968743	D;D	0.89917	1.0;0.999	D;P	0.75020	0.985;0.88	T	0.60737	-0.7204	10	0.48119	T	0.1	-14.5325	11.2228	0.48866	0.0902:0.0:0.9098:0.0	.	245;350	Q5JVS0-2;Q5JVS0	.;HABP4_HUMAN	T	245;350	ENSP00000364400:A245T;ENSP00000364398:A350T	ENSP00000364398:A350T	A	+	1	0	HABP4	98290240	1.000000	0.71417	0.910000	0.35882	0.957000	0.61999	3.736000	0.55052	1.379000	0.46325	-0.345000	0.07892	GCC		0.532	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053269.1	NM_014282		4	243	0	0	0	1	0	4	243				
PRG4	10216	broad.mit.edu	37	1	186275982	186275982	+	Silent	SNP	C	C	T			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr1:186275982C>T	ENST00000445192.2	+	7	1176	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367485.4_Silent_p.T284T|PRG4_ENST00000367483.4_Silent_p.T336T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	377	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACCCCCAAGGAGC	0.637																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1129-1131)acC>acT		proteoglycan 4							171.0	164.0	166.0					1																	186275982		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186275982C>T	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1131C>T	1.37:g.186275982C>T						PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367485.4_Silent_p.T284T|PRG4_ENST00000367483.4_Silent_p.T336T	p.T377T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1176	+			377			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1131C>T	CCDS1369.1																																																																																				0.637	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		4	244	0	0	0	1	0	4	244				
TAF9	6880	broad.mit.edu	37	5	68660800	68660800	+	Silent	SNP	A	A	G	rs548057941	byFrequency	TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr5:68660800A>G	ENST00000328663.4	-	3	1231	c.765T>C	c.(763-765)gaT>gaC	p.D255D	TAF9_ENST00000380822.4_Intron|TAF9_ENST00000217893.5_Silent_p.D255D|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000512561.1_Intron|TAF9_ENST00000506736.1_Silent_p.D255D	NM_001015892.1	NP_001015892.1	Q16594	TAF9_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	255	Poly-Asp.				cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cell growth (GO:0030307)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|response to interleukin-1 (GO:0070555)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|pre-snoRNP complex (GO:0070761)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	activating transcription factor binding (GO:0033613)|C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.D255D(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		catcatcatcatcgtcatcat	0.318													A|||	4	0.000798722	0.0	0.0058	5008	,	,		23660	0.0		0.0	False		,,,				2504	0.0					ENST00000328663.4																			1	Substitution - coding silent(1)	p.D255D(1)	lung(1)	central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8						c.(763-765)gaT>gaC		TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa							115.0	107.0	110.0					5																	68660800		2203	4300	6503	SO:0001819	synonymous_variant	6880					Cajal body	adenylate kinase activity|ATP binding|protein binding	g.chr5:68660800A>G	U21858	CCDS4001.1, CCDS4002.1, CCDS43324.1	5q13.2	2013-09-26	2002-08-29	2001-12-07	ENSG00000085231	ENSG00000085231			11542	protein-coding gene	gene with protein product		600822	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, G, 32kD"""	TAF2G		10191103, 15630091, 16079131	Standard	NM_001015892		Approved	TAFII31, TAFII32, TAFIID32, MGC5067, CGI-137, MGC1603, MGC3647, AD-004	uc003jwa.3	Q16594	OTTHUMG00000099359	ENST00000328663.4:c.765T>C	5.37:g.68660800A>G						TAF9_ENST00000502819.1_Intron|TAF9_ENST00000506736.1_Silent_p.D255D|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000512561.1_Intron|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000217893.5_Silent_p.D255D	p.D255D	NM_001015892.1	NP_001015892.1	Q9Y3D8	KAD6_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)	3	1231	-		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	59					D3DWA3|Q5U0D1|Q9BTS1	Silent	SNP	ENST00000328663.4	37	c.765T>C	CCDS4002.1																																																																																				0.318	TAF9-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216803.1	NM_003187		5	309	0	0	0	1	0	5	309				
FAM126B	285172	broad.mit.edu	37	2	201862255	201862255	+	Missense_Mutation	SNP	A	A	C			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr2:201862255A>C	ENST00000418596.3	-	8	726	c.539T>G	c.(538-540)gTc>gGc	p.V180G	AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	180						intracellular (GO:0005622)				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						AAAACTCAGGACTTCAAACCT	0.358																																						ENST00000418596.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.(538-540)gTc>gGc		family with sequence similarity 126, member B							80.0	76.0	77.0					2																	201862255		2203	4300	6503	SO:0001583	missense	285172					intracellular		g.chr2:201862255A>C	BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.539T>G	2.37:g.201862255A>C	ENSP00000393667:p.Val180Gly					AC005037.3_ENST00000413848.1_RNA	p.V180G	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN			8	726	-			180					B2RCG7|Q4ZG87|Q53TX6	Missense_Mutation	SNP	ENST00000418596.3	37	c.539T>G	CCDS2335.1	.	.	.	.	.	.	.	.	.	.	A	18.72	3.683664	0.68157	.	.	ENSG00000155744	ENST00000418596;ENST00000452799	D;D	0.83591	-1.74;-1.74	5.26	4.07	0.47477	.	0.137363	0.48767	D	0.000163	D	0.90909	0.7143	M	0.85197	2.74	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.91056	0.4882	10	0.87932	D	0	-8.7993	11.473	0.50280	0.8492:0.1508:0.0:0.0	.	180	Q8IXS8	F126B_HUMAN	G	180	ENSP00000393667:V180G;ENSP00000401905:V180G	ENSP00000393667:V180G	V	-	2	0	FAM126B	201570500	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	8.462000	0.90374	0.791000	0.33826	0.383000	0.25322	GTC		0.358	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256285.3	NM_173822		5	162	0	0	0	1	0	5	162				
GOLGA6L10	647042	broad.mit.edu	37	15	82635194	82635194	+	Missense_Mutation	SNP	T	T	C	rs1610794		TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr15:82635194T>C	ENST00000439287.4	-	9	1475	c.1376A>G	c.(1375-1377)gAa>gGa	p.E459G		NM_001164465.1	NP_001157937.1	A6NI86	GG6LA_HUMAN	golgin A6 family-like 10	459										endometrium(1)|kidney(4)	5						TGCAGCCTCTTCTGCTCCTCC	0.507													.|||	1875	0.374401	0.3427	0.2997	5008	,	,		8926	0.4504		0.3499	False		,,,				2504	0.4172					ENST00000439287.4																			0				endometrium(1)|kidney(4)	5						c.(1375-1377)gAa>gGa																																						SO:0001583	missense	0							g.chr15:82635194T>C		CCDS45325.1	15q25.2	2014-08-13	2010-02-12		ENSG00000278662				37228	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6-like 10"", ""golgin A6 family-like 18"""	GOLGA6L18			Standard	XM_006720643		Approved		uc021ssn.1	A6NI86	OTTHUMG00000172580	ENST00000439287.4:c.1376A>G	15.37:g.82635194T>C	ENSP00000388606:p.Glu459Gly						p.E459G	NM_001164465.1	NP_001157937.1	A6NI86	GG6LA_HUMAN			9	1475	-			459						Missense_Mutation	SNP	ENST00000439287.4	37	c.1376A>G	CCDS45325.1	.	.	.	.	.	.	.	.	.	.	.	0.164	-1.078392	0.01903	.	.	ENSG00000205281	ENST00000439287	T	0.21932	1.98	.	.	.	.	.	.	.	.	T	0.04634	0.0126	N	0.02011	-0.69	0.80722	P	0.0	.	.	.	.	.	.	T	0.28170	-1.0052	4	0.06891	T	0.86	.	.	.	.	.	.	.	.	G	459	ENSP00000388606:E459G	ENSP00000388606:E459G	E	-	2	0	GOLGA6L10	80422249	0.979000	0.34478	0.036000	0.18154	0.036000	0.12997	-1.319000	0.02702	-1.655000	0.01497	-1.635000	0.00777	GAA		0.507	GOLGA6L10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419403.2	NM_001164465		3	21	0	0	0	1	0	3	21				
SERPINB4	6318	broad.mit.edu	37	18	61306946	61306946	+	Silent	SNP	G	G	A			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr18:61306946G>A	ENST00000341074.5	-	6	649	c.534C>T	c.(532-534)aaC>aaT	p.N178N	SERPINB4_ENST00000356424.6_Silent_p.N178N	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	178					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						AATAGATTGCGTTCACAAGAA	0.318																																						ENST00000341074.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(532-534)aaC>aaT		serpin peptidase inhibitor, clade B (ovalbumin), member 4							95.0	95.0	95.0					18																	61306946		2202	4299	6501	SO:0001819	synonymous_variant	6318							g.chr18:61306946G>A	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.534C>T	18.37:g.61306946G>A						SERPINB4_ENST00000356424.6_Silent_p.N178N	p.N178N	NM_002974.2	NP_002965.1					6	649	-								A8K847	Silent	SNP	ENST00000341074.5	37	c.534C>T	CCDS11986.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.418253	0.01136	.	.	ENSG00000206073	ENST00000413673	.	.	.	4.27	-5.42	0.02640	.	.	.	.	.	T	0.64327	0.2588	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64398	-0.6417	4	.	.	.	.	15.5031	0.75716	0.8871:0.0:0.1129:0.0	.	.	.	.	M	180	.	.	T	-	2	0	SERPINB4	59457926	0.328000	0.24687	0.310000	0.25168	0.001000	0.01503	-0.181000	0.09740	-1.653000	0.01500	-3.130000	0.00060	ACG		0.318	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		86	119	0	0	0	1	0	86	119				
LSAMP	4045	broad.mit.edu	37	3	116163760	116163760	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr3:116163760T>C	ENST00000490035.2	-	1	618	c.119A>G	c.(118-120)aAc>aGc	p.N40S	LSAMP_ENST00000539563.1_Missense_Mutation_p.N37S	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	40	Ig-like C2-type 1.				cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CACGGTGATGTTGTCCGTGCC	0.572																																						ENST00000490035.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(118-120)aAc>aGc		limbic system-associated membrane protein							113.0	94.0	100.0					3																	116163760		2203	4300	6503	SO:0001583	missense	4045				cell adhesion|nervous system development	anchored to membrane|plasma membrane		g.chr3:116163760T>C	U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"""Immunoglobulin superfamily / I-set domain containing"""	6705	protein-coding gene	gene with protein product	"""IgLON family member 3"""	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.119A>G	3.37:g.116163760T>C	ENSP00000419000:p.Asn40Ser					LSAMP_ENST00000539563.1_Missense_Mutation_p.N37S	p.N40S	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)	1	618	-		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)	40			Ig-like C2-type 1.		Q8IV49	Missense_Mutation	SNP	ENST00000490035.2	37	c.119A>G	CCDS2982.1	.	.	.	.	.	.	.	.	.	.	T	14.50	2.554394	0.45487	.	.	ENSG00000185565	ENST00000333617;ENST00000490035;ENST00000539563;ENST00000474851	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	4.47	4.47	0.54385	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.156705	0.42420	D	0.000716	T	0.28995	0.0720	L	0.51914	1.62	0.39881	D	0.973648	B;P	0.41313	0.004;0.745	B;B	0.43274	0.007;0.414	T	0.13150	-1.0520	10	0.54805	T	0.06	-8.8026	13.1465	0.59465	0.0:0.0:0.0:1.0	.	40;40	B2RCU8;Q13449	.;LSAMP_HUMAN	S	24;40;37;74	ENSP00000328455:N24S;ENSP00000419000:N40S;ENSP00000443429:N37S;ENSP00000418506:N74S	ENSP00000328455:N24S	N	-	2	0	LSAMP	117646450	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.277000	0.78572	1.887000	0.54652	0.529000	0.55759	AAC		0.572	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	NM_002338		10	92	0	0	0	1	0	10	92				
G6PC	2538	broad.mit.edu	37	17	41052996	41052996	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr17:41052996G>A	ENST00000253801.2	+	1	182	c.103G>A	c.(103-105)Gtg>Atg	p.V35M	G6PC_ENST00000592383.1_Missense_Mutation_p.V35M|LINC00671_ENST00000301683.3_lincRNA|G6PC_ENST00000585489.1_Missense_Mutation_p.V35M	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	35					carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CTTGGTGTCCGTGATCGCAGA	0.498																																						ENST00000253801.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23						c.(103-105)Gtg>Atg		glucose-6-phosphatase, catalytic subunit							160.0	129.0	140.0					17																	41052996		2203	4300	6503	SO:0001583	missense	2538				gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding	g.chr17:41052996G>A	U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"""glycogen storage disease type I, von Gierke disease"""	613742	"""glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"""	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575		ENST00000253801.2:c.103G>A	17.37:g.41052996G>A	ENSP00000253801:p.Val35Met					G6PC_ENST00000592383.1_Missense_Mutation_p.V35M|G6PC_ENST00000585489.1_Missense_Mutation_p.V35M	p.V35M	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	1	182	+		Breast(137;0.000143)	35					A1L4C0|B4E1C3|K7EL82	Missense_Mutation	SNP	ENST00000253801.2	37	c.103G>A	CCDS11446.1	.	.	.	.	.	.	.	.	.	.	G	5.199	0.222163	0.09863	.	.	ENSG00000131482	ENST00000253801	T	0.76186	-1.0	5.27	-1.77	0.07982	.	0.529880	0.20187	N	0.097387	T	0.38558	0.1045	N	0.08118	0	0.09310	N	1	P;B	0.37423	0.594;0.017	B;B	0.24269	0.052;0.006	T	0.38351	-0.9665	10	0.41790	T	0.15	.	1.1492	0.01782	0.3913:0.1026:0.2913:0.2148	.	37;35	E7ENG5;P35575	.;G6PC_HUMAN	M	35	ENSP00000253801:V35M	ENSP00000253801:V35M	V	+	1	0	G6PC	38306522	0.922000	0.31269	0.002000	0.10522	0.379000	0.30106	0.995000	0.29706	-0.112000	0.11979	-0.142000	0.14014	GTG		0.498	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452451.1	NM_000151		4	233	0	0	0	1	0	4	233				
FBN2	2201	broad.mit.edu	37	5	127674745	127674745	+	Nonsense_Mutation	SNP	C	C	A			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr5:127674745C>A	ENST00000508053.1	-	32	4326	c.3352G>T	c.(3352-3354)Gag>Tag	p.E1118*	FBN2_ENST00000508989.1_Nonsense_Mutation_p.E1085*|FBN2_ENST00000507835.1_5'UTR|FBN2_ENST00000262464.4_Nonsense_Mutation_p.E1118*			P35556	FBN2_HUMAN	fibrillin 2	1118	EGF-like 16; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ATCCTGCACTCGTCGATGTCT	0.458																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(3352-3354)Gag>Tag		fibrillin 2							78.0	71.0	73.0					5																	127674745		2203	4300	6503	SO:0001587	stop_gained	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127674745C>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3352G>T	5.37:g.127674745C>A	ENSP00000424571:p.Glu1118*					FBN2_ENST00000508989.1_Nonsense_Mutation_p.E1085*|FBN2_ENST00000262464.4_Nonsense_Mutation_p.E1118*|FBN2_ENST00000507835.1_5'UTR	p.E1118*			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	32	4326	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1118			EGF-like 16; calcium-binding.		B4DU01|Q59ES6	Nonsense_Mutation	SNP	ENST00000508053.1	37	c.3352G>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	48	13.896764	0.99769	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	.	.	.	5.13	5.13	0.70059	.	0.190428	0.35407	N	0.003238	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.7436	0.91784	0.0:1.0:0.0:0.0	.	.	.	.	X	1118;1118;1085	.	ENSP00000262464:E1118X	E	-	1	0	FBN2	127702644	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.606000	0.82863	2.819000	0.97034	0.585000	0.79938	GAG		0.458	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		10	161	1	0	4.68919e-08	1	5.21021e-08	10	161				
MPZL2	10205	broad.mit.edu	37	11	118133674	118133674	+	Missense_Mutation	SNP	C	C	T	rs187771174		TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr11:118133674C>T	ENST00000278937.2	-	2	325	c.197G>A	c.(196-198)cGt>cAt	p.R66H	MPZL2_ENST00000438295.2_Missense_Mutation_p.R66H|MPZL2_ENST00000525647.1_5'UTR	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN	myelin protein zero-like 2	66	Ig-like V-type.				anatomical structure morphogenesis (GO:0009653)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)|T cell differentiation in thymus (GO:0033077)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		GTCTAGAGGACGAAAATTCCA	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		19517	0.001		0.0	False		,,,				2504	0.0					ENST00000278937.2																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11						c.(196-198)cGt>cAt		myelin protein zero-like 2		C	HIS/ARG,HIS/ARG	1,4399	2.1+/-5.4	0,1,2199	155.0	153.0	153.0		197,197	5.7	1.0	11		153	1,8591	1.2+/-3.3	0,1,4295	no	missense,missense	MPZL2	NM_005797.3,NM_144765.2	29,29	0,2,6494	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	66/216,66/216	118133674	2,12990	2200	4296	6496	SO:0001583	missense	10205				anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane		g.chr11:118133674C>T	AF275945	CCDS8393.1	11q24	2013-01-11	2007-08-01	2007-08-01		ENSG00000149573		"""Immunoglobulin superfamily / V-set domain containing"""	3496	protein-coding gene	gene with protein product		604873	"""epithelial V-like antigen 1"""	EVA1		9585423	Standard	NM_005797		Approved	EVA	uc001psn.3	O60487		ENST00000278937.2:c.197G>A	11.37:g.118133674C>T	ENSP00000278937:p.Arg66His					MPZL2_ENST00000438295.2_Missense_Mutation_p.R66H|MPZL2_ENST00000525647.1_5'UTR	p.R66H	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	2	325	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	66			Ig-like V-type.		A8K2R1	Missense_Mutation	SNP	ENST00000278937.2	37	c.197G>A	CCDS8393.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	23.7	4.443380	0.83993	2.27E-4	1.16E-4	ENSG00000149573	ENST00000278937;ENST00000438295	D;D	0.94537	-3.45;-3.45	5.66	5.66	0.87406	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.150859	0.56097	D	0.000027	D	0.96965	0.9009	M	0.88979	2.995	0.47511	D	0.999448	D	0.89917	1.0	D	0.79784	0.993	D	0.95834	0.8860	10	0.33940	T	0.23	.	9.164	0.37041	0.0:0.8734:0.0:0.1266	.	66	O60487	MPZL2_HUMAN	H	66	ENSP00000278937:R66H;ENSP00000408362:R66H	ENSP00000278937:R66H	R	-	2	0	MPZL2	117638884	0.941000	0.31946	0.998000	0.56505	0.990000	0.78478	1.534000	0.36051	2.673000	0.90976	0.650000	0.86243	CGT		0.468	MPZL2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392113.1	NM_005797		147	196	0	0	0	1	0	147	196				
NFYA	4800	broad.mit.edu	37	6	41059406	41059407	+	Frame_Shift_Ins	INS	-	-	GTGGTCAA			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr6:41059406_41059407insGTGGTCAA	ENST00000341376.6	+	7	888_889	c.687_688insGTGGTCAA	c.(688-690)gtgfs	p.-230fs	OARD1_ENST00000480585.1_Intron|NFYA_ENST00000353205.5_Frame_Shift_Ins_p.-201fs	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha						cellular lipid metabolic process (GO:0044255)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGGCAGGCAATGTGGTCAATTC	0.436																																						ENST00000341376.6																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9						c.(685-690)aatggtfs		nuclear transcription factor Y, alpha																																				SO:0001589	frameshift_variant	4800				transcription from RNA polymerase II promoter	CCAAT-binding factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:41059406_41059407insGTGGTCAA		CCDS4849.1, CCDS4850.1	6p21.3	2008-11-11			ENSG00000001167	ENSG00000001167			7804	protein-coding gene	gene with protein product		189903				1774067, 9612081	Standard	NM_002505		Approved	HAP2, CBF-B, NF-YA	uc003opo.3	P23511	OTTHUMG00000014669	ENST00000341376.6:c.688_695dupGTGGTCAA	6.37:g.41059407_41059414dupGTGGTCAA	ENSP00000345702:p.Val230fs					OARD1_ENST00000480585.1_Intron|NFYA_ENST00000353205.5_Frame_Shift_Ins_p.NG200fs	p.NG229fs	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN			7	888_889	+	Ovarian(28;0.0418)|Colorectal(47;0.196)		229					Q8IXU0	Frame_Shift_Ins	INS	ENST00000341376.6	37	c.687_688insGTGGTCAA	CCDS4849.1																																																																																				0.436	NFYA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040496.1			47	130						47	130	---	---	---	---
KIAA1217	56243	broad.mit.edu	37	10	24833288	24833289	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr10:24833288_24833289delAG	ENST00000376454.3	+	19	5119_5120	c.5089_5090delAG	c.(5089-5091)agafs	p.R1697fs	KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376451.2_Frame_Shift_Del_p.R1380fs|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376462.1_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1697					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TTCTTCCAACAGAGATTCTGTT	0.505																																						ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(4138-4140)afs		KIAA1217																																				SO:0001589	frameshift_variant	56243				embryonic skeletal system development	cytoplasm		g.chr10:24833288_24833289delAG	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.5089_5090delAG	10.37:g.24833290_24833291delAG	ENSP00000365637:p.Arg1697fs					KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376454.3_Frame_Shift_Del_p.R1697fs|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376462.1_Intron	p.R1380fs			Q5T5P2	SKT_HUMAN			14	4398_4399	+			1697					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Frame_Shift_Del	DEL	ENST00000376454.3	37	c.4138_4139delAG	CCDS31165.1																																																																																				0.505	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		36	136						36	136	---	---	---	---
RTL1	388015	broad.mit.edu	37	14	101350670	101350671	+	In_Frame_Ins	INS	-	-	TCT	rs55755518|rs397823434|rs35401447	byFrequency	TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr14:101350670_101350671insTCT	ENST00000534062.1	-	1	513_514	c.455_456insAGA	c.(454-456)gag>gaAGAg	p.152_152E>EE	MIR127_ENST00000384876.1_RNA|MIR433_ENST00000384837.1_RNA|MIR136_ENST00000385207.1_RNA|MIR432_ENST00000606207.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	152					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TCTGGTTTTGCTCTTGAGGAGT	0.52														784	0.15655	0.0847	0.1902	5008	,	,		20517	0.0575		0.2684	False		,,,				2504	0.2168					ENST00000534062.1																			0				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						c.(454-456)gca>gAGAca		retrotransposon-like 1				459,3511		59,341,1585						2.5	0.0		dbSNP_126	223	2155,5335		412,1331,2002	no	coding	RTL1	NM_001134888.2		471,1672,3587	A1A1,A1R,RR		28.7717,11.5617,22.8098				2614,8846				SO:0001652	inframe_insertion	388015							g.chr14:101350670_101350671insTCT		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.453_455dupAGA	14.37:g.101350671_101350673dupTCT	ENSP00000435342:p.Glu152dup						p.152_152A>ET	NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN			1	513_514	-			152					E9PKS8	In_Frame_Ins	INS	ENST00000534062.1	37	c.455_456insAGA	CCDS53910.1																																																																																				0.520	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888		6	7						6	7	---	---	---	---
SNX29P2	440352	broad.mit.edu	37	16	29438362	29438363	+	lincRNA	DEL	AT	AT	-	rs151067447	byFrequency	TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr16:29438362_29438363delAT	ENST00000398878.3	+	0	5991							Q8IUI4	S29P2_HUMAN	sorting nexin 29 pseudogene 2																		TTCATATATCATATGACTTCTA	0.322														1968	0.392971	0.4024	0.353	5008	,	,		18874	0.2698		0.5338	False		,,,				2504	0.3906					ENST00000398878.3																			0																																																			0							g.chr16:29438362_29438363delAT	BX648280		16p11.2	2014-03-21	2011-08-16	2011-08-16	ENSG00000198106	ENSG00000198106			31914	pseudogene	pseudogene			"""RUN domain containing 2C"""	RUNDC2C			Standard	NR_002939		Approved		uc021tfw.1	Q8IUI4			16.37:g.29438364_29438365delAT														0	5991	+									RNA	DEL	ENST00000398878.3	37																																																																																						0.322	SNX29P2-202	KNOWN	basic	lincRNA	lincRNA		NR_002939		9	4						9	4	---	---	---	---
