#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
MTOR	2475	broad.mit.edu	37	1	11174395	11174395	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:11174395A>T	ENST00000361445.4	-	53	7356	c.7280T>A	c.(7279-7281)cTg>cAg	p.L2427Q	MTOR_ENST00000376838.1_Missense_Mutation_p.L632Q	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2427	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CCTCCAGTTCAGCAAGGGGTC	0.537																																						uc001asd.2																			0				central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						c.(7279-7281)CTG>CAG		FK506 binding protein 12-rapamycin associated							135.0	115.0	122.0					1																	11174395		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11174395A>T	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.7280T>A	1.37:g.11174395A>T	ENSP00000354558:p.Leu2427Gln					MTOR_uc001asc.2_Missense_Mutation_p.L632Q	p.L2427Q	NM_004958	NP_004949	P42345	MTOR_HUMAN			53	7401	-			2427			PI3K/PI4K.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.7280T>A	CCDS127.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.842624	0.91197	.	.	ENSG00000198793	ENST00000361445;ENST00000376838;ENST00000455339	T;T;T	0.80033	-1.33;-1.33;-1.33	5.89	5.89	0.94794	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.89966	0.6868	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91209	0.4997	10	0.87932	D	0	-16.8498	15.497	0.75662	1.0:0.0:0.0:0.0	.	2427	P42345	MTOR_HUMAN	Q	2427;632;83	ENSP00000354558:L2427Q;ENSP00000366034:L632Q;ENSP00000398745:L83Q	ENSP00000354558:L2427Q	L	-	2	0	MTOR	11096982	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.923000	0.92808	2.254000	0.74563	0.533000	0.62120	CTG		0.537	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958	
UBR4	23352	broad.mit.edu	37	1	19492180	19492180	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:19492180C>T	ENST00000375254.3	-	30	4208	c.4181G>A	c.(4180-4182)cGt>cAt	p.R1394H	UBR4_ENST00000375217.2_Missense_Mutation_p.R1394H|UBR4_ENST00000375226.2_Missense_Mutation_p.R1394H|UBR4_ENST00000375267.2_Missense_Mutation_p.R1394H	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1394			R -> H (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R1394H(2)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CATAGCTTTACGAGCCTGGCT	0.433																																						uc001bbi.2																			2	Substitution - Missense(2)	p.R1394H(2)	breast(2)	kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(4180-4182)CGT>CAT		retinoblastoma-associated factor 600							91.0	89.0	90.0					1																	19492180		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19492180C>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.4181G>A	1.37:g.19492180C>T	ENSP00000364403:p.Arg1394His					UBR4_uc001bbm.1_Missense_Mutation_p.R605H	p.R1394H	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	30	4185	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	1394		R -> H (in a breast cancer sample; somatic mutation).			A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.4181G>A	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.756146	0.89843	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.13	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.76054	0.3934	L	0.39898	1.24	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	T	0.70335	-0.4900	10	0.28530	T	0.3	.	19.8931	0.96937	0.0:1.0:0.0:0.0	.	1394	Q5T4S7	UBR4_HUMAN	H	1394;1394;1394;1394;104;610	ENSP00000364403:R1394H;ENSP00000364416:R1394H;ENSP00000364365:R1394H;ENSP00000364374:R1394H;ENSP00000404897:R104H	ENSP00000364365:R1394H	R	-	2	0	UBR4	19364767	1.000000	0.71417	0.991000	0.47740	0.956000	0.61745	7.376000	0.79658	2.873000	0.98535	0.563000	0.77884	CGT		0.433	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765	
EYA3	2140	broad.mit.edu	37	1	28362074	28362074	+	Silent	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:28362074C>T	ENST00000373871.3	-	6	582	c.342G>A	c.(340-342)acG>acA	p.T114T	EYA3_ENST00000373863.3_Silent_p.T114T|EYA3_ENST00000436342.2_5'UTR|EYA3_ENST00000373864.1_Intron|EYA3_ENST00000545175.1_Silent_p.T61T|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000540618.1_Silent_p.T114T	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	EYA transcriptional coactivator and phosphatase 3	114					anatomical structure morphogenesis (GO:0009653)|double-strand break repair (GO:0006302)|histone dephosphorylation (GO:0016576)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of DNA repair (GO:0045739)|regulation of transcription, DNA-templated (GO:0006355)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		GTAGTCCATACGTTTGGGTTG	0.428																																						uc001bpi.1																			0				ovary(2)|skin(1)	3						c.(340-342)ACG>ACA		eyes absent 3							264.0	254.0	257.0					1																	28362074		2203	4300	6503	SO:0001819	synonymous_variant	2140				anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity	g.chr1:28362074C>T	U81602	CCDS316.1, CCDS60050.1, CCDS60051.1, CCDS60052.1	1p36	2014-06-19	2014-06-19		ENSG00000158161	ENSG00000158161		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3521	protein-coding gene	gene with protein product		601655	"""eyes absent (Drosophila) homolog 3"", ""eyes absent homolog 3 (Drosophila)"""			9020840	Standard	NM_001990		Approved	DKFZp686C132	uc001bpi.2	Q99504	OTTHUMG00000003916	ENST00000373871.3:c.342G>A	1.37:g.28362074C>T						EYA3_uc010ofs.1_Silent_p.T61T|EYA3_uc010oft.1_Silent_p.T114T|EYA3_uc001bpj.2_Silent_p.T114T|EYA3_uc001bpk.1_RNA|EYA3_uc010ofu.1_RNA	p.T114T	NM_001990	NP_001981	Q99504	EYA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)	6	507	-		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	114					A8K190|B4DIR7|B4DNZ7|O95463|Q8IVX7|Q99813	Silent	SNP	ENST00000373871.3	37	c.342G>A	CCDS316.1																																																																																				0.428	EYA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011184.1	NM_001990	
ZSCAN20	7579	broad.mit.edu	37	1	33960310	33960310	+	Missense_Mutation	SNP	C	C	T	rs375908590		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:33960310C>T	ENST00000361328.3	+	8	2519	c.2366C>T	c.(2365-2367)aCg>aTg	p.T789M		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	789					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGAATTCACACGGGGGAAAAG	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		19741	0.0		0.0	False		,,,				2504	0.001					uc001bxj.3																			0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(2365-2367)ACG>ATG		zinc finger protein 31		C	MET/THR	1,4111		0,1,2055	78.0	82.0	80.0		2366	1.9	0.0	1		80	0,8474		0,0,4237	no	missense	ZSCAN20	NM_145238.3	81	0,1,6292	TT,TC,CC		0.0,0.0243,0.0079	possibly-damaging	789/1044	33960310	1,12585	2056	4237	6293	SO:0001583	missense	7579				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:33960310C>T	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.2366C>T	1.37:g.33960310C>T	ENSP00000355053:p.Thr789Met					ZSCAN20_uc009vui.2_Missense_Mutation_p.T788M	p.T789M	NM_145238	NP_660281	P17040	ZSC20_HUMAN			8	2533	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	789					A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	ENST00000361328.3	37	c.2366C>T	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.168908	0.38315	2.43E-4	0.0	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	5.9	1.88	0.25563	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.301668	0.28635	N	0.014654	T	0.50343	0.1610	M	0.87547	2.89	0.33522	D	0.592497	P;P	0.45902	0.868;0.765	B;B	0.34779	0.158;0.189	T	0.64529	-0.6386	9	0.87932	D	0	-2.4475	8.6864	0.34240	0.0:0.6708:0.0:0.3292	.	788;789	P17040-3;P17040	.;ZSC20_HUMAN	M	789;723;723	.	ENSP00000324450:T789M	T	+	2	0	ZSCAN20	33732897	0.845000	0.29573	0.038000	0.18304	0.981000	0.71138	1.733000	0.38156	0.087000	0.17167	0.561000	0.74099	ACG		0.438	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238	
EPHA10	284656	broad.mit.edu	37	1	38227491	38227491	+	Missense_Mutation	SNP	C	C	T	rs146430998		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:38227491C>T	ENST00000373048.4	-	3	435	c.436G>A	c.(436-438)Ggc>Agc	p.G146S	EPHA10_ENST00000319637.6_Missense_Mutation_p.G146S|EPHA10_ENST00000427468.2_Missense_Mutation_p.G146S	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	146	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGCCGGCTGCCGCCTAGGCGG	0.662																																						uc009vvi.2																			0				breast(4)|stomach(3)|lung(1)	8						c.(436-438)GGC>AGC		EPH receptor A10 isofom 3							30.0	36.0	34.0					1																	38227491		2202	4298	6500	SO:0001583	missense	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38227491C>T	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.436G>A	1.37:g.38227491C>T	ENSP00000362139:p.Gly146Ser					EPHA10_uc001cbw.3_Missense_Mutation_p.G146S	p.G146S	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN			3	522	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	146			Extracellular (Potential).		A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	c.436G>A	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821668	0.50633	.	.	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	T;T;T	0.03358	3.96;3.96;3.96	4.75	2.57	0.30868	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.178710	0.27306	N	0.019974	T	0.02193	0.0068	N	0.11427	0.14	0.80722	D	1	B;B	0.19331	0.035;0.007	B;B	0.10450	0.005;0.001	T	0.53121	-0.8483	10	0.49607	T	0.09	.	7.3386	0.26623	0.0:0.6894:0.0:0.3106	.	146;146	Q5JZY3;Q5JZY3-2	EPHAA_HUMAN;.	S	146	ENSP00000397746:G146S;ENSP00000362139:G146S;ENSP00000316395:G146S	ENSP00000316395:G146S	G	-	1	0	EPHA10	38000078	0.316000	0.24580	0.655000	0.29622	0.990000	0.78478	1.134000	0.31442	0.512000	0.28257	0.643000	0.83706	GGC		0.662	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641	
SGIP1	84251	broad.mit.edu	37	1	67194966	67194966	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:67194966G>A	ENST00000371037.4	+	20	1839	c.1762G>A	c.(1762-1764)Gga>Aga	p.G588R	SGIP1_ENST00000435165.2_Missense_Mutation_p.G93R|SGIP1_ENST00000371039.1_Missense_Mutation_p.G391R|AL354978.1_ENST00000408728.2_RNA|SGIP1_ENST00000371035.3_Missense_Mutation_p.G378R|SGIP1_ENST00000371036.3_Missense_Mutation_p.G390R|SGIP1_ENST00000237247.6_Missense_Mutation_p.G619R	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	588	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TAAGATTACCGGAGAAATGGT	0.423																																						uc001dcr.2																			0				ovary(3)	3						c.(1762-1764)GGA>AGA		SH3-domain GRB2-like (endophilin) interacting							119.0	111.0	114.0					1																	67194966		2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67194966G>A	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1762G>A	1.37:g.67194966G>A	ENSP00000360076:p.Gly588Arg					SGIP1_uc010opd.1_Missense_Mutation_p.G188R|SGIP1_uc001dcs.2_Missense_Mutation_p.G188R|SGIP1_uc001dct.2_Missense_Mutation_p.G190R|SGIP1_uc009wat.2_Missense_Mutation_p.G382R|SGIP1_uc001dcu.2_Missense_Mutation_p.G93R	p.G588R	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN			20	1979	+			588					A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.1762G>A	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163062	0.78226	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037;ENST00000435165	D;D;D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26;-2.26;-2.26	5.37	4.46	0.54185	Muniscin C-terminal mu homology domain (1);	0.000000	0.85682	D	0.000000	D	0.93207	0.7836	M	0.89785	3.06	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.99;0.998;1.0	D;D;P;P;D	0.83275	0.99;0.939;0.872;0.872;0.996	D	0.94567	0.7767	10	0.87932	D	0	-6.6804	14.0049	0.64456	0.073:0.0:0.927:0.0	.	618;93;190;378;588	A6NEV3;Q6ZV33;B3KR01;B7Z5H8;Q9BQI5	.;.;.;.;SGIP1_HUMAN	R	619;391;378;618;591;390;588;93	ENSP00000237247:G619R;ENSP00000360078:G391R;ENSP00000360074:G378R;ENSP00000360075:G390R;ENSP00000360076:G588R;ENSP00000395525:G93R	ENSP00000237247:G619R	G	+	1	0	SGIP1	66967554	1.000000	0.71417	0.993000	0.49108	0.959000	0.62525	9.465000	0.97660	1.286000	0.44565	0.491000	0.48974	GGA		0.423	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291	
SPAG17	200162	broad.mit.edu	37	1	118548038	118548038	+	Splice_Site	SNP	T	T	G			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:118548038T>G	ENST00000336338.5	-	32	4840	c.4775A>C	c.(4774-4776)cAg>cCg	p.Q1592P		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1592						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GCACTTTACCTGAAAAGTGTT	0.448																																						uc001ehk.2																			0				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(4774-4776)CAG>CCG		sperm associated antigen 17							108.0	104.0	105.0					1																	118548038		2203	4300	6503	SO:0001630	splice_region_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118548038T>G		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4776+1A>C	1.37:g.118548038T>G							p.Q1592P	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	32	4843	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1592					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.4775A>C	CCDS899.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.044902	0.75732	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.21031	2.03	5.6	5.6	0.85130	.	0.232418	0.45606	D	0.000356	T	0.31199	0.0789	M	0.71581	2.175	0.44871	D	0.997887	D	0.63880	0.993	P	0.59424	0.857	T	0.04255	-1.0965	10	0.44086	T	0.13	.	14.7761	0.69732	0.0:0.0:0.0:1.0	.	1592	Q6Q759	SPG17_HUMAN	P	1592;72	ENSP00000337804:Q1592P	ENSP00000337804:Q1592P	Q	-	2	0	SPAG17	118349561	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.482000	0.66833	2.121000	0.65114	0.533000	0.62120	CAG		0.448	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996	Missense_Mutation
APH1A	51107	broad.mit.edu	37	1	150239482	150239482	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:150239482G>A	ENST00000369109.3	-	5	790	c.602C>T	c.(601-603)tCg>tTg	p.S201L	APH1A_ENST00000414276.2_Missense_Mutation_p.S131L|APH1A_ENST00000461320.1_5'UTR|C1orf54_ENST00000369102.1_5'Flank|APH1A_ENST00000360244.4_Missense_Mutation_p.S201L	NM_001077628.2	NP_001071096.1	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	201					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|metanephros development (GO:0001656)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACCAGTCCCGATGTCAGTAG	0.507																																						uc001ety.1																			0				ovary(1)|lung(1)	2						c.(601-603)TCG>TTG		anterior pharynx defective 1 homolog A isoform							88.0	89.0	89.0					1																	150239482		1972	4177	6149	SO:0001583	missense	51107				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding	g.chr1:150239482G>A	AF151835	CCDS41390.1, CCDS41391.1, CCDS58025.1	1q21.2	2013-05-01	2013-05-01		ENSG00000117362	ENSG00000117362			29509	protein-coding gene	gene with protein product		607629	"""anterior pharynx defective 1 homolog A (C. elegans)"""			10810093, 12110170	Standard	NM_001077628		Approved	APH-1A, CGI-78	uc001ety.2	Q96BI3	OTTHUMG00000012545	ENST00000369109.3:c.602C>T	1.37:g.150239482G>A	ENSP00000358105:p.Ser201Leu					APH1A_uc010pbx.1_Missense_Mutation_p.S131L|APH1A_uc001etz.1_Missense_Mutation_p.S201L|APH1A_uc001eua.1_Missense_Mutation_p.S201L|APH1A_uc010pby.1_Missense_Mutation_p.S144L|APH1A_uc001eub.1_Missense_Mutation_p.S85L|APH1A_uc010pbz.1_Missense_Mutation_p.S85L	p.S201L	NM_001077628	NP_001071096	Q96BI3	APH1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		5	924	-	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		201			Helical; Name=6; (Potential).		B4DQK0|Q5TB22|Q5TB23|Q969R6|Q9BVG0|Q9Y386	Missense_Mutation	SNP	ENST00000369109.3	37	c.602C>T	CCDS41390.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315976	0.81469	.	.	ENSG00000117362	ENST00000369109;ENST00000360244;ENST00000414276;ENST00000236017	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.18	5.18	0.71444	.	0.077740	0.53938	D	0.000050	T	0.64875	0.2638	M	0.79258	2.445	0.80722	D	1	D;D;D;P;P;D	0.76494	0.995;0.999;0.999;0.886;0.906;0.971	D;D;D;B;P;P	0.80764	0.988;0.967;0.994;0.394;0.529;0.544	T	0.67662	-0.5613	10	0.87932	D	0	-4.9563	16.5567	0.84487	0.0:0.0:1.0:0.0	.	85;144;131;201;201;201	B4DMX8;B4DUG7;B4DQK0;Q96BI3-2;Q5TB22;Q96BI3	.;.;.;.;.;APH1A_HUMAN	L	201;201;131;144	ENSP00000358105:S201L;ENSP00000353380:S201L;ENSP00000397473:S131L;ENSP00000236017:S144L	ENSP00000236017:S144L	S	-	2	0	APH1A	148506106	1.000000	0.71417	0.955000	0.39395	0.963000	0.63663	9.461000	0.97646	2.848000	0.98002	0.655000	0.94253	TCG		0.507	APH1A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000035048.1	NM_016022	
FLG2	388698	broad.mit.edu	37	1	152325713	152325713	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:152325713G>A	ENST00000388718.5	-	3	4621	c.4549C>T	c.(4549-4551)Cat>Tat	p.H1517Y	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1517					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTGAATGTGTGTGCGAG	0.498																																						uc001ezw.3																			0				ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(4549-4551)CAT>TAT		filaggrin family member 2							325.0	311.0	315.0					1																	152325713		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152325713G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4549C>T	1.37:g.152325713G>A	ENSP00000373370:p.His1517Tyr					uc001ezv.2_Intron	p.H1517Y	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4622	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1517					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.4549C>T	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	g	11.17	1.558392	0.27827	.	.	ENSG00000143520	ENST00000388718	T	0.08546	3.08	4.54	1.6	0.23607	.	.	.	.	.	T	0.03827	0.0108	M	0.74647	2.275	0.09310	N	1	B	0.24618	0.107	B	0.19148	0.024	T	0.33111	-0.9881	9	0.54805	T	0.06	-1.9774	7.2529	0.26160	0.2909:0.0:0.7091:0.0	.	1517	Q5D862	FILA2_HUMAN	Y	1517	ENSP00000373370:H1517Y	ENSP00000373370:H1517Y	H	-	1	0	FLG2	150592337	0.000000	0.05858	0.001000	0.08648	0.038000	0.13279	-1.313000	0.02718	0.149000	0.19098	-0.418000	0.06021	CAT		0.498	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342	
PPOX	5498	broad.mit.edu	37	1	161138221	161138221	+	Splice_Site	SNP	G	G	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:161138221G>T	ENST00000367999.4	+	6	737		c.e6-1		PPOX_ENST00000535223.1_Intron|B4GALT3_ENST00000470882.1_5'Flank|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000352210.5_Splice_Site	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase						heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TCACCCTTAAGGTGGCGTCTC	0.522																																						uc001fyj.2																			0				ovary(1)	1						c.e6-1		protoporphyrinogen oxidase							148.0	136.0	140.0					1																	161138221		2203	4300	6503	SO:0001630	splice_region_variant	5498	Porphyria_Variegata			heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity	g.chr1:161138221G>T	BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"""variegate porphyria"""	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.472-1G>T	1.37:g.161138221G>T						PPOX_uc001fyn.2_Intron|PPOX_uc001fyg.2_Splice_Site_p.V158_splice|PPOX_uc001fyl.2_Splice_Site_p.V124_splice|PPOX_uc001fym.2_Intron|PPOX_uc001fyk.2_Splice_Site|PPOX_uc001fyh.2_Splice_Site|PPOX_uc010pkg.1_Translation_Start_Site|PPOX_uc009wuc.1_Splice_Site|PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Translation_Start_Site	p.V158_splice	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		6	762	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)							D3DVG0|Q5VTW8	Splice_Site	SNP	ENST00000367999.4	37	c.472_splice	CCDS1221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.93|19.93	3.918622|3.918622	0.73098|0.73098	.|.	.|.	ENSG00000143224|ENSG00000143224	ENST00000352210;ENST00000367999|ENST00000435935	.|.	.|.	.|.	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71995	.|0.3406	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73613	.|-0.3927	.|5	.|0.56958	.|D	.|0.05	.|.	17.7413|17.7413	0.88407|0.88407	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|N	-1|124	.|.	.|ENSP00000411649:K124N	.|K	+|+	.|3	.|2	PPOX|PPOX	159404845|159404845	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	7.806000|7.806000	0.86020|0.86020	2.701000|2.701000	0.92244|0.92244	0.650000|0.650000	0.86243|0.86243	.|AAG		0.522	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082993.1	NM_000309	Intron
HMCN1	83872	broad.mit.edu	37	1	186092143	186092143	+	Missense_Mutation	SNP	C	C	T	rs370916387		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:186092143C>T	ENST00000271588.4	+	81	12519	c.12290C>T	c.(12289-12291)aCg>aTg	p.T4097M	HMCN1_ENST00000367492.2_Missense_Mutation_p.T4097M	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4097	Ig-like C2-type 40.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.T4097M(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAGCCCATCACGTTATCCTGT	0.433																																						uc001grq.1																			1	Substitution - Missense(1)		large_intestine(1)	ovary(22)|skin(1)	23						c.(12289-12291)ACG>ATG		hemicentin 1 precursor		C	MET/THR	0,4406		0,0,2203	116.0	97.0	103.0		12290	-1.2	0.0	1		103	1,8599	1.2+/-3.3	0,1,4299	no	missense	HMCN1	NM_031935.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	4097/5636	186092143	1,13005	2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186092143C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.12290C>T	1.37:g.186092143C>T	ENSP00000271588:p.Thr4097Met						p.T4097M	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			81	12519	+			4097			Ig-like C2-type 40.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.12290C>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	3.752	-0.051329	0.07407	0.0	1.16E-4	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68181	-0.31;-0.31	5.85	-1.22	0.09494	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.637600	0.17373	N	0.176594	T	0.59404	0.2191	M	0.66378	2.025	0.09310	N	1	B	0.20261	0.043	B	0.15484	0.013	T	0.50259	-0.8849	10	0.38643	T	0.18	.	10.6051	0.45390	0.0:0.4481:0.0:0.5519	.	4097	Q96RW7	HMCN1_HUMAN	M	4097	ENSP00000271588:T4097M;ENSP00000356462:T4097M	ENSP00000271588:T4097M	T	+	2	0	HMCN1	184358766	0.036000	0.19791	0.000000	0.03702	0.027000	0.11550	0.404000	0.20999	-0.525000	0.06391	-0.302000	0.09304	ACG		0.433	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
RYR2	6262	broad.mit.edu	37	1	237811774	237811774	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:237811774C>T	ENST00000366574.2	+	49	7690	c.7373C>T	c.(7372-7374)gCg>gTg	p.A2458V	RYR2_ENST00000542537.1_Missense_Mutation_p.A2442V|RYR2_ENST00000360064.6_Missense_Mutation_p.A2456V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2458	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|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)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.A2456V(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GACATGTCTGCGGGGTTTTGC	0.458																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(7372-7374)GCG>GTG		cardiac muscle ryanodine receptor							95.0	88.0	90.0					1																	237811774		1896	4136	6032	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237811774C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.7373C>T	1.37:g.237811774C>T	ENSP00000355533:p.Ala2458Val						p.A2458V	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		49	7493	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2458			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.7373C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.521356	0.85600	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96522	-4.04;-4.04;-4.04	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000014	D	0.97835	0.9289	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98223	1.0479	10	0.66056	D	0.02	-12.8196	14.7056	0.69189	0.1456:0.8544:0.0:0.0	.	2458	Q92736	RYR2_HUMAN	V	2458;2456;2442	ENSP00000355533:A2458V;ENSP00000353174:A2456V;ENSP00000443798:A2442V	ENSP00000353174:A2456V	A	+	2	0	RYR2	235878397	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.945000	0.70226	2.563000	0.86464	0.655000	0.94253	GCG		0.458	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
GPR123	84435	broad.mit.edu	37	10	134886514	134886514	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr10:134886514C>T	ENST00000607359.1	+	3	548	c.548C>T	c.(547-549)tCc>tTc	p.S183F				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0			A -> S (in dbSNP:rs34915504).		G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		ATTTTTACCTCCGTCTTGCAA	0.562																																						uc001llw.2																			0					0						c.(547-549)TCC>TTC		RecName: Full=Probable G-protein coupled receptor 123;							41.0	41.0	41.0					10																	134886514		1562	3572	5134	SO:0001583	missense	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134886514C>T	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000607359.1:c.548C>T	10.37:g.134886514C>T	ENSP00000475778:p.Ser183Phe						p.S183F			Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	3	548	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	Error:Variant_position_missing_in_Q86SQ6_after_alignment					A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	ENST00000607359.1	37	c.548C>T		.	.	.	.	.	.	.	.	.	.	C	16.27	3.076915	0.55753	.	.	ENSG00000197177	ENST00000368577;ENST00000392609	.	.	.	1.95	0.921	0.19403	.	5.582100	0.01611	U	0.022535	T	0.39253	0.1071	.	.	.	0.20873	N	0.999834	P	0.43607	0.812	P	0.46510	0.519	T	0.25012	-1.0144	7	0.87932	D	0	.	5.2606	0.15571	0.3391:0.6609:0.0:0.0	.	183	Q86SQ6-1	.	F	183	.	ENSP00000357566:S183F	S	+	2	0	GPR123	134736504	0.000000	0.05858	0.001000	0.08648	0.688000	0.40055	-0.115000	0.10741	0.311000	0.23014	0.313000	0.20887	TCC		0.562	GPR123-004	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316904.2		
SLC25A22	79751	broad.mit.edu	37	11	800589	800589	+	5'Flank	SNP	G	G	A	rs151136652		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr11:800589G>A	ENST00000531214.1	-	0	0				PIDD_ENST00000411829.2_Silent_p.G665G|PIDD_ENST00000534649.1_5'Flank|PIDD_ENST00000347755.5_Silent_p.G665G	NM_001191060.1	NP_001177989.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22						L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGAACTCTTCGCCCTCGAACA	0.682																																					Colon(93;848 1468 3270 23355 49636)	uc001lro.1																			0					0						c.(1993-1995)GGC>GGT		leucine rich repeat and death domain containing		G	,	0,4398		0,0,2199	59.0	49.0	52.0		1995,1995	-3.8	1.0	11	dbSNP_134	52	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous,coding-synonymous	PIDD	NM_145886.3,NM_145887.3	,	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	,	665/911,665/894	800589	1,12989	2199	4296	6495	SO:0001631	upstream_gene_variant	55367				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding	g.chr11:800589G>A	AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"""Solute carriers"""	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310		11.37:g.800589G>A	Exception_encountered					SLC25A22_uc009yci.2_5'Flank|SLC25A22_uc001lrj.2_5'Flank|LRDD_uc009yck.1_RNA|LRDD_uc001lrk.1_Silent_p.G665G|LRDD_uc001lrl.1_Silent_p.G508G|LRDD_uc001lrm.1_Silent_p.G352G|LRDD_uc001lrn.1_Silent_p.G508G|LRDD_uc001lrp.1_Silent_p.G327G	p.G665G	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	12	2137	-		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	665					A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Silent	SNP	ENST00000531214.1	37	c.1995C>T	CCDS7715.1																																																																																				0.682	SLC25A22-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384124.1		
OR56A4	120793	broad.mit.edu	37	11	6023920	6023920	+	Silent	SNP	G	G	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr11:6023920G>A	ENST00000330728.4	-	1	504	c.459C>T	c.(457-459)ttC>ttT	p.F153F		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATCTGGAGGAAGCAGGCTG	0.532																																						uc010qzv.1																			0				central_nervous_system(1)|skin(1)	2						c.(457-459)TTC>TTT		olfactory receptor, family 56, subfamily A,							88.0	81.0	83.0					11																	6023920		2201	4296	6497	SO:0001819	synonymous_variant	120793				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6023920G>A	BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"""GPCR / Class A : Olfactory receptors"""	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.459C>T	11.37:g.6023920G>A							p.F153F	NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	459	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	101			Extracellular (Potential).		B9EH17	Silent	SNP	ENST00000330728.4	37	c.459C>T	CCDS31404.1																																																																																				0.532	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2	NM_001005179	
TRIM3	10612	broad.mit.edu	37	11	6470286	6470286	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr11:6470286C>T	ENST00000525074.1	-	12	2601	c.2207G>A	c.(2206-2208)tGc>tAc	p.C736Y	TRIM3_ENST00000536344.1_Missense_Mutation_p.C617Y|TRIM3_ENST00000359518.3_Missense_Mutation_p.C736Y|TRIM3_ENST00000345851.3_Missense_Mutation_p.C736Y|TRIM3_ENST00000537602.1_Missense_Mutation_p.C658Y	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	736					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.C736Y(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCTTTAAAGCAGTGGTTGCC	0.562																																					Melanoma(6;5 510 1540 25169 29084)	uc001mdh.2																			1	Substitution - Missense(1)	p.C736Y(1)	central_nervous_system(1)	central_nervous_system(2)|large_intestine(1)|ovary(1)|skin(1)	5						c.(2206-2208)TGC>TAC		tripartite motif-containing 3							84.0	72.0	76.0					11																	6470286		2201	4296	6497	SO:0001583	missense	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6470286C>T	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10064	protein-coding gene	gene with protein product	"""ring finger protein 22"", ""brain expressed ring finger"", ""tripartite motif protein TRIM3"""	605493	"""tripartite motif-containing 3"""	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.2207G>A	11.37:g.6470286C>T	ENSP00000433102:p.Cys736Tyr					TRIM3_uc001mdi.2_Missense_Mutation_p.C736Y|TRIM3_uc010raj.1_Missense_Mutation_p.C617Y|TRIM3_uc009yfd.2_Missense_Mutation_p.C736Y	p.C736Y	NM_006458	NP_006449	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	13	2594	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	736			NHL 6.		B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Missense_Mutation	SNP	ENST00000525074.1	37	c.2207G>A	CCDS7764.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016331	0.75161	.	.	ENSG00000110171	ENST00000525074;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344	T;T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69;-0.69	4.7	4.7	0.59300	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.84822	0.5557	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86256	0.1652	10	0.51188	T	0.08	-24.7218	16.3838	0.83490	0.0:1.0:0.0:0.0	.	617;736	F5H2Q8;O75382	.;TRIM3_HUMAN	Y	736;736;725;658;736;617	ENSP00000433102:C736Y;ENSP00000340797:C736Y;ENSP00000441091:C658Y;ENSP00000352508:C736Y;ENSP00000445460:C617Y	ENSP00000337094:C725Y	C	-	2	0	TRIM3	6426862	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.589000	0.82641	2.434000	0.82447	0.563000	0.77884	TGC		0.562	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458	
ANO5	203859	broad.mit.edu	37	11	22291917	22291917	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr11:22291917G>T	ENST00000324559.8	+	18	2275	c.1958G>T	c.(1957-1959)aGt>aTt	p.S653I		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	653					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AAGCTGTATAGTCGATGGGAG	0.398																																						uc001mqi.2																			0				central_nervous_system(3)|ovary(1)	4						c.(1957-1959)AGT>ATT		anoctamin 5 isoform a							145.0	146.0	146.0					11																	22291917		2203	4300	6503	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22291917G>T	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.1958G>T	11.37:g.22291917G>T	ENSP00000315371:p.Ser653Ile					ANO5_uc001mqj.2_Missense_Mutation_p.S652I	p.S653I	NM_213599	NP_998764	Q75V66	ANO5_HUMAN			18	2275	+			653			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000324559.8	37	c.1958G>T	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711237	0.68730	.	.	ENSG00000171714	ENST00000324559	T	0.64618	-0.11	5.71	3.76	0.43208	.	0.072103	0.85682	D	0.000000	T	0.79695	0.4490	M	0.81239	2.535	0.54753	D	0.999981	D	0.89917	1.0	D	0.77004	0.989	T	0.82366	-0.0493	10	0.66056	D	0.02	.	16.0001	0.80288	0.0:0.2549:0.7451:0.0	.	653	Q75V66	ANO5_HUMAN	I	653	ENSP00000315371:S653I	ENSP00000315371:S653I	S	+	2	0	ANO5	22248493	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	4.545000	0.60698	0.694000	0.31654	-0.176000	0.13171	AGT		0.398	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599	
GAS2	2620	broad.mit.edu	37	11	22747846	22747846	+	Silent	SNP	G	G	A	rs371383777		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr11:22747846G>A	ENST00000454584.2	+	4	581	c.276G>A	c.(274-276)ccG>ccA	p.P92P	GAS2_ENST00000433790.1_Silent_p.P92P|GAS2_ENST00000278187.3_Silent_p.P92P	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	92	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						AGAATCTACCGTTGAAGAAGA	0.393																																						uc009yie.2																			0				ovary(1)|skin(1)	2						c.(274-276)CCG>CCA		growth arrest-specific 2		G	,,	0,4406		0,0,2203	95.0	97.0	96.0		276,276,276	-0.1	0.6	11		96	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	GAS2	NM_001143830.1,NM_005256.3,NM_177553.2	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	92/314,92/314,92/314	22747846	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2620				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane		g.chr11:22747846G>A	BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.276G>A	11.37:g.22747846G>A						GAS2_uc001mqm.2_Silent_p.P92P|GAS2_uc001mqn.2_RNA|GAS2_uc001mqo.2_Silent_p.P92P	p.P92P	NM_001143830	NP_001137302	O43903	GAS2_HUMAN			4	582	+			92			CH.		B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Silent	SNP	ENST00000454584.2	37	c.276G>A	CCDS7858.1																																																																																				0.393	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387717.1	NM_177553	
RAG1	5896	broad.mit.edu	37	11	36596452	36596452	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr11:36596452C>T	ENST00000299440.5	+	2	1710	c.1598C>T	c.(1597-1599)aCt>aTt	p.T533I		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	533					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TCTTCCAGCACTGATGTTGGC	0.493									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	uc001mwu.3																			0				ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5						c.(1597-1599)ACT>ATT		recombination activating gene 1							101.0	95.0	97.0					11																	36596452		2202	4298	6500	SO:0001583	missense	5896	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36596452C>T	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.1598C>T	11.37:g.36596452C>T	ENSP00000299440:p.Thr533Ile					RAG1_uc001mwt.2_RNA	p.T533I	NM_000448	NP_000439	P15918	RAG1_HUMAN			2	1722	+	all_lung(20;0.226)	all_hematologic(20;0.107)	533					E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.1598C>T	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802991	0.50315	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.87571	-2.27;-2.27	5.58	5.58	0.84498	.	0.234707	0.44285	D	0.000469	D	0.91670	0.7367	M	0.81341	2.54	0.44780	D	0.997787	P	0.42010	0.768	P	0.48704	0.587	D	0.92376	0.5909	10	0.87932	D	0	.	19.6271	0.95682	0.0:1.0:0.0:0.0	.	533	P15918	RAG1_HUMAN	I	533	ENSP00000434610:T533I;ENSP00000299440:T533I	ENSP00000299440:T533I	T	+	2	0	RAG1	36553028	0.998000	0.40836	0.912000	0.35992	0.708000	0.40852	3.889000	0.56212	2.649000	0.89929	0.650000	0.86243	ACT		0.493	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448	
OR4X1	390113	broad.mit.edu	37	11	48286015	48286015	+	Silent	SNP	C	C	T	rs267602914		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr11:48286015C>T	ENST00000320048.1	+	1	603	c.603C>T	c.(601-603)ggC>ggT	p.G201G		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	201						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TCACCAATGGCGGCTCCATCT	0.557																																						uc010rht.1																			0				ovary(1)|pancreas(1)|skin(1)	3						c.(601-603)GGC>GGT		olfactory receptor, family 4, subfamily X,							117.0	93.0	101.0					11																	48286015		2201	4298	6499	SO:0001819	synonymous_variant	390113				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48286015C>T	AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"""GPCR / Class A : Olfactory receptors"""	14854	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily X, member 1"""				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.603C>T	11.37:g.48286015C>T							p.G201G	NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN			1	603	+			201			Helical; Name=5; (Potential).		Q6IF74	Silent	SNP	ENST00000320048.1	37	c.603C>T	CCDS31487.1																																																																																				0.557	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	NM_001004726	
OR5B17	219965	broad.mit.edu	37	11	58125932	58125932	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr11:58125932delT	ENST00000357377.3	-	1	610	c.611delA	c.(610-612)aatfs	p.N204fs		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AAAAAAGACATTAAAACTTGA	0.368																																						uc010rke.1																			0				ovary(2)|skin(1)	3						c.(610-612)AATfs		olfactory receptor, family 5, subfamily B,							69.0	62.0	65.0					11																	58125932		2201	4295	6496	SO:0001589	frameshift_variant	219965				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58125932delT	AB065849	CCDS31548.1	11q12.1	2012-08-09			ENSG00000197786	ENSG00000197786		"""GPCR / Class A : Olfactory receptors"""	15267	protein-coding gene	gene with protein product				OR5B20P			Standard	NM_001005489		Approved		uc010rke.2	Q8NGF7	OTTHUMG00000167465	ENST00000357377.3:c.611delA	11.37:g.58125932delT	ENSP00000349945:p.Asn204fs						p.N204fs	NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN			1	611	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	204			Helical; Name=5; (Potential).		Q6IEX1	Frame_Shift_Del	DEL	ENST00000357377.3	37	c.611delA	CCDS31548.1																																																																																				0.368	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394708.2	NM_001005489	
FADS3	3995	broad.mit.edu	37	11	61647583	61647583	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr11:61647583C>T	ENST00000278829.2	-	2	406	c.254G>A	c.(253-255)cGc>cAc	p.R85H	FADS3_ENST00000525588.1_Missense_Mutation_p.R85H|FADS3_ENST00000540820.1_Missense_Mutation_p.R85H|FADS3_ENST00000527697.1_5'UTR	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	85	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water (GO:0016717)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TAGGAACTTGCGCACAAAATT	0.572																																						uc001nsm.2																			0				ovary(1)|pancreas(1)	2						c.(253-255)CGC>CAC		fatty acid desaturase 3							103.0	83.0	90.0					11																	61647583		2202	4299	6501	SO:0001583	missense	3995				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water	g.chr11:61647583C>T		CCDS8013.1	11q12-q13.1	2013-01-25			ENSG00000221968	ENSG00000221968	1.14.19.3	"""Fatty acid desaturases"""	3576	protein-coding gene	gene with protein product	"""delta-9-desaturase"""	606150		LLCDL3			Standard	NM_021727		Approved	CYB5RP	uc001nsm.3	Q9Y5Q0	OTTHUMG00000167500	ENST00000278829.2:c.254G>A	11.37:g.61647583C>T	ENSP00000278829:p.Arg85His					FADS3_uc001nsn.2_5'UTR	p.R85H	NM_021727	NP_068373	Q9Y5Q0	FADS3_HUMAN			2	407	-			85			Cytochrome b5 heme-binding.|Cytoplasmic (Potential).		O60426	Missense_Mutation	SNP	ENST00000278829.2	37	c.254G>A	CCDS8013.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561078	0.65538	.	.	ENSG00000149485;ENSG00000221968;ENSG00000221968;ENSG00000221968	ENST00000543488;ENST00000278829;ENST00000540820;ENST00000525588	T;T;T	0.80824	-1.42;-1.42;-1.42	4.55	4.55	0.56014	Cytochrome b5 (4);	0.000000	0.64402	U	0.000019	T	0.80270	0.4592	M	0.68728	2.09	0.45307	D	0.998303	P	0.47409	0.895	B	0.42245	0.381	D	0.83686	0.0174	10	0.56958	D	0.05	-6.7927	16.2645	0.82568	0.0:1.0:0.0:0.0	.	85	Q9Y5Q0	FADS3_HUMAN	H	15;85;85;85	ENSP00000278829:R85H;ENSP00000439308:R85H;ENSP00000432206:R85H	ENSP00000442323:R15H	R	-	2	0	FADS1;FADS3	61404159	0.983000	0.35010	1.000000	0.80357	0.534000	0.34807	2.134000	0.42102	2.231000	0.72958	0.561000	0.74099	CGC		0.572	FADS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394836.1		
THRSP	7069	broad.mit.edu	37	11	77775138	77775138	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr11:77775138G>C	ENST00000281030.2	+	1	232	c.211G>C	c.(211-213)Gac>Cac	p.D71H	NDUFC2-KCTD14_ENST00000528251.1_Intron|NDUFC2-KCTD14_ENST00000530054.1_Intron	NM_003251.3	NP_003242.1	Q92748	THRSP_HUMAN	thyroid hormone responsive	71					lipid metabolic process (GO:0006629)|regulation of lipid biosynthetic process (GO:0046890)|regulation of transcription, DNA-templated (GO:0006355)|regulation of triglyceride biosynthetic process (GO:0010866)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)			TGTGGATGTGGACCATGGGCT	0.642																																						uc001oyx.2																			0				breast(1)	1						c.(211-213)GAC>CAC		thyroid hormone-responsive protein							79.0	81.0	80.0					11																	77775138		2200	4292	6492	SO:0001583	missense	7069				lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus		g.chr11:77775138G>C	Y08409	CCDS8256.1	11q14.1	2012-06-19	2010-06-25		ENSG00000151365	ENSG00000151365			11800	protein-coding gene	gene with protein product	"""SPOT14 homolog (rat)"""	601926	"""thyroid hormone responsive SPOT14 (rat) homolog"", ""lipogenic protein 1"""	LPGP1		9003802	Standard	NM_003251		Approved	SPOT14, Lpgp, S14, THRP	uc001oyx.3	Q92748	OTTHUMG00000166632	ENST00000281030.2:c.211G>C	11.37:g.77775138G>C	ENSP00000281030:p.Asp71His						p.D71H	NM_003251	NP_003242	Q92748	THRSP_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)		1	232	+	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		71					B2R4W7	Missense_Mutation	SNP	ENST00000281030.2	37	c.211G>C	CCDS8256.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.151339	0.78001	.	.	ENSG00000151365	ENST00000281030	.	.	.	4.96	4.96	0.65561	.	0.529823	0.17827	N	0.160670	T	0.71143	0.3305	.	.	.	0.42859	D	0.9941	P	0.46706	0.883	P	0.49999	0.628	T	0.75545	-0.3280	8	0.87932	D	0	-3.495	17.1451	0.86764	0.0:0.0:1.0:0.0	.	71	Q92748	THRSP_HUMAN	H	71	.	ENSP00000281030:D71H	D	+	1	0	THRSP	77452786	1.000000	0.71417	0.998000	0.56505	0.794000	0.44872	7.764000	0.85297	2.595000	0.87683	0.561000	0.74099	GAC		0.642	THRSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390939.1	NM_003251	
PRCP	5547	broad.mit.edu	37	11	82571019	82571019	+	Splice_Site	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr11:82571019C>T	ENST00000313010.3	-	2	503	c.309G>A	c.(307-309)acG>acA	p.T103T	PRCP_ENST00000393399.2_Splice_Site_p.T124T|PRCP_ENST00000535099.1_Intron	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	103					angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						CTGCACATACCGTGTTATTAC	0.348																																						uc001ozs.2																			0				skin(1)	1						c.(307-309)ACG>ACA		prolylcarboxypeptidase isoform 1 preproprotein							88.0	79.0	82.0					11																	82571019		2202	4298	6500	SO:0001630	splice_region_variant	5547				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity	g.chr11:82571019C>T	BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.309+1G>A	11.37:g.82571019C>T						PRCP_uc001ozr.2_Silent_p.T124T	p.T103T	NM_005040	NP_005031	P42785	PCP_HUMAN			2	422	-			103					A8MU24|B2R7B7|B3KRK5|B5BU34	Silent	SNP	ENST00000313010.3	37	c.309G>A	CCDS8262.1																																																																																				0.348	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391792.1	NM_005040	Silent
NFRKB	4798	broad.mit.edu	37	11	129751720	129751720	+	Nonsense_Mutation	SNP	G	G	C			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr11:129751720G>C	ENST00000446488.3	-	11	1323	c.1220C>G	c.(1219-1221)tCa>tGa	p.S407*	NFRKB_ENST00000524746.1_Nonsense_Mutation_p.S407*|NFRKB_ENST00000524794.1_Nonsense_Mutation_p.S432*|NFRKB_ENST00000304521.5_Nonsense_Mutation_p.S407*	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	407	Winged-helix like domain.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GGCTGGCGATGACTGCCAATC	0.557											OREG0021512	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001qfi.2																			0				ovary(3)	3						c.(1219-1221)TCA>TGA		nuclear factor related to kappaB binding protein							33.0	34.0	34.0					11																	129751720		2201	4297	6498	SO:0001587	stop_gained	4798				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding	g.chr11:129751720G>C		CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"""INO80 complex subunits"""	7802	protein-coding gene	gene with protein product	"""nuclear factor related to kappa B binding protein"", ""DNA-binding protein R kappa B"", ""INO80 complex subunit G"""	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.1220C>G	11.37:g.129751720G>C	ENSP00000400476:p.Ser407*		OREG0021512	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1574	NFRKB_uc001qfg.2_Nonsense_Mutation_p.S432*|NFRKB_uc001qfh.2_Nonsense_Mutation_p.S430*|NFRKB_uc010sbw.1_Nonsense_Mutation_p.S419*	p.S407*	NM_001143835	NP_001137307	Q6P4R8	NFRKB_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)	12	1421	-	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	407					Q12869|Q15312|Q9H048	Nonsense_Mutation	SNP	ENST00000446488.3	37	c.1220C>G	CCDS44770.1	.	.	.	.	.	.	.	.	.	.	G	38	7.243173	0.98161	.	.	ENSG00000170322	ENST00000304521;ENST00000446488;ENST00000524794;ENST00000524746;ENST00000531755	.	.	.	5.67	5.67	0.87782	.	0.566610	0.19227	N	0.119519	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-8.8116	19.7621	0.96323	0.0:0.0:1.0:0.0	.	.	.	.	X	407;407;432;407;419	.	ENSP00000303800:S407X	S	-	2	0	NFRKB	129256930	1.000000	0.71417	0.978000	0.43139	0.922000	0.55478	3.774000	0.55341	2.680000	0.91292	0.563000	0.77884	TCA		0.557	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2	NM_006165	
ESPL1	9700	broad.mit.edu	37	12	53684176	53684176	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr12:53684176G>A	ENST00000257934.4	+	24	5378	c.5287G>A	c.(5287-5289)Gca>Aca	p.A1763T	ESPL1_ENST00000552462.1_Missense_Mutation_p.A1763T	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1763					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CATCCAGAAGGCACAGAAAGA	0.557																																					Colon(53;1069 1201 2587 5382)	uc001sck.2																			0				lung(1)|kidney(1)|skin(1)	3						c.(5287-5289)GCA>ACA		separase							130.0	113.0	119.0					12																	53684176		2203	4300	6503	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53684176G>A	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.5287G>A	12.37:g.53684176G>A	ENSP00000257934:p.Ala1763Thr					ESPL1_uc001scj.2_Missense_Mutation_p.A1438T	p.A1763T	NM_012291	NP_036423	Q14674	ESPL1_HUMAN			24	5378	+			1763						Missense_Mutation	SNP	ENST00000257934.4	37	c.5287G>A	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.553353	0.45487	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.11821	2.74;2.74	5.4	5.4	0.78164	.	0.227351	0.44483	D	0.000449	T	0.09905	0.0243	L	0.29908	0.895	0.23440	N	0.997675	B	0.25007	0.116	B	0.24541	0.054	T	0.15464	-1.0436	10	0.40728	T	0.16	.	7.6616	0.28407	0.0841:0.1664:0.7495:0.0	.	1763	Q14674	ESPL1_HUMAN	T	1763;1438;1763	ENSP00000257934:A1763T;ENSP00000449831:A1763T	ENSP00000257934:A1763T	A	+	1	0	ESPL1	51970443	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.635000	0.46537	2.822000	0.97130	0.650000	0.86243	GCA		0.557	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291	
LRP1	4035	broad.mit.edu	37	12	57598195	57598195	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr12:57598195C>T	ENST00000243077.3	+	71	11420	c.10954C>T	c.(10954-10956)Cgg>Tgg	p.R3652W		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3652	LDL-receptor class A 29. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.R3652W(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGCACCAGTGCGGACCTGCCC	0.622																																						uc001snd.2																			1	Substitution - Missense(1)		large_intestine(1)	ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(10954-10956)CGG>TGG		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						71.0	68.0	69.0					12																	57598195		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57598195C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.10954C>T	12.37:g.57598195C>T	ENSP00000243077:p.Arg3652Trp						p.R3652W	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	71	11420	+			3652			Extracellular (Potential).|LDL-receptor class A 29.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.10954C>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.761345	0.49468	.	.	ENSG00000123384	ENST00000243077	D	0.90955	-2.76	5.24	0.852	0.18995	.	0.000000	0.64402	D	0.000004	D	0.93429	0.7904	M	0.65320	2	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92033	0.5635	10	0.45353	T	0.12	.	14.529	0.67912	0.6148:0.3852:0.0:0.0	.	3652	Q07954	LRP1_HUMAN	W	3652	ENSP00000243077:R3652W	ENSP00000243077:R3652W	R	+	1	2	LRP1	55884462	0.796000	0.28864	1.000000	0.80357	0.975000	0.68041	0.421000	0.21280	0.275000	0.22094	0.558000	0.71614	CGG		0.622	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332	
ANO4	121601	broad.mit.edu	37	12	101336194	101336194	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr12:101336194C>T	ENST00000392977.3	+	5	547	c.337C>T	c.(337-339)Cga>Tga	p.R113*	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392979.3_Nonsense_Mutation_p.R78*|ANO4_ENST00000538618.1_Nonsense_Mutation_p.R279*			Q32M45	ANO4_HUMAN	anoctamin 4	113					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						ACTTTACTTTCGAGATGGAAA	0.388										HNSCC(74;0.22)																												uc010svm.1																			0				ovary(4)|skin(2)	6						c.(337-339)CGA>TGA		anoctamin 4							127.0	128.0	128.0					12																	101336194		2203	4300	6503	SO:0001587	stop_gained	121601					chloride channel complex	chloride channel activity	g.chr12:101336194C>T	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.337C>T	12.37:g.101336194C>T	ENSP00000376703:p.Arg113*	HNSCC(74;0.22)				ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_Nonsense_Mutation_p.R78*|ANO4_uc001thx.2_Nonsense_Mutation_p.R113*	p.R113*	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			5	909	+			113			Extracellular (Potential).		Q8NAJ0|Q8NB39|Q8NB53	Nonsense_Mutation	SNP	ENST00000392977.3	37	c.337C>T		.	.	.	.	.	.	.	.	.	.	C	40	8.451656	0.98817	.	.	ENSG00000151572	ENST00000538618;ENST00000392979;ENST00000392977	.	.	.	5.61	3.2	0.36748	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6172	0.56584	0.7373:0.2627:0.0:0.0	.	.	.	.	X	279;78;113	.	ENSP00000376703:R113X	R	+	1	2	ANO4	99860325	1.000000	0.71417	0.999000	0.59377	0.873000	0.50193	2.752000	0.47516	0.386000	0.24997	-0.264000	0.10439	CGA		0.388	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826	
GCN1L1	10985	broad.mit.edu	37	12	120599821	120599821	+	Silent	SNP	C	C	T	rs375741812	byFrequency	TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr12:120599821C>T	ENST00000300648.6	-	21	2217	c.2205G>A	c.(2203-2205)ccG>ccA	p.P735P		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	735					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGACCCGGTCCGGCGACAGGA	0.617													C|||	3	0.000599042	0.0023	0.0	5008	,	,		21854	0.0		0.0	False		,,,				2504	0.0					uc001txo.2																			0				ovary(4)	4						c.(2203-2205)CCG>CCA		GCN1 general control of amino-acid synthesis		C		3,4373	4.2+/-10.8	0,3,2185	51.0	59.0	56.0		2205	0.7	1.0	12		56	1,8561	1.2+/-3.3	0,1,4280	no	coding-synonymous	GCN1L1	NM_006836.1		0,4,6465	TT,TC,CC		0.0117,0.0686,0.0309		735/2672	120599821	4,12934	2188	4281	6469	SO:0001819	synonymous_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120599821C>T	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.2205G>A	12.37:g.120599821C>T							p.P735P	NM_006836	NP_006827	Q92616	GCN1L_HUMAN			21	2218	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		735					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	c.2205G>A	CCDS41847.1																																																																																				0.617	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1		
POTEG	404785	broad.mit.edu	37	14	19553823	19553823	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr14:19553823G>A	ENST00000409832.3	+	1	459	c.407G>A	c.(406-408)cGt>cAt	p.R136H		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	136								p.R136H(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TACCACGTCCGTCGAGAAGAT	0.577																																						uc001vuz.1																			1	Substitution - Missense(1)	p.R136H(1)	ovary(1)	ovary(1)	1						c.(406-408)CGT>CAT		POTE ankyrin domain family, member G							93.0	102.0	99.0					14																	19553823		1602	3367	4969	SO:0001583	missense	404785							g.chr14:19553823G>A		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.407G>A	14.37:g.19553823G>A	ENSP00000386971:p.Arg136His					POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	p.R136H	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN			1	459	+			136					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.407G>A	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	g	5.784	0.328972	0.10956	.	.	ENSG00000222036	ENST00000409832	T	0.53206	0.63	1.47	-2.95	0.05564	.	.	.	.	.	T	0.34687	0.0906	L	0.50333	1.59	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.24657	-1.0154	9	0.39692	T	0.17	.	4.5394	0.12049	0.0:0.4621:0.3049:0.2331	.	136	Q6S5H5	POTEG_HUMAN	H	136	ENSP00000386971:R136H	ENSP00000386971:R136H	R	+	2	0	POTEG	18623823	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.250000	0.08830	-0.851000	0.04147	-0.715000	0.03620	CGT		0.577	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356	
FOXA1	3169	broad.mit.edu	37	14	38061527	38061527	+	Silent	SNP	G	G	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr14:38061527G>A	ENST00000250448.2	-	2	523	c.462C>T	c.(460-462)ggC>ggT	p.G154G	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Silent_p.G121G	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	154					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)		cgccgccgccgcccgcgcggc	0.706																																						uc001wuf.2																			0					0						c.(460-462)GGC>GGT		forkhead box A1							31.0	32.0	32.0					14																	38061527		2199	4289	6488	SO:0001819	synonymous_variant	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.chr14:38061527G>A	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.462C>T	14.37:g.38061527G>A						FOXA1_uc010tpz.1_Silent_p.G121G	p.G154G	NM_004496	NP_004487	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	774	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		154					B2R9H6|B7ZAP5|Q9H2A0	Silent	SNP	ENST00000250448.2	37	c.462C>T	CCDS9665.1																																																																																				0.706	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1		
MDGA2	161357	broad.mit.edu	37	14	47426709	47426709	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr14:47426709G>A	ENST00000399232.2	-	9	2114	c.1750C>T	c.(1750-1752)Cgg>Tgg	p.R584W	MDGA2_ENST00000357362.3_Missense_Mutation_p.R355W|MDGA2_ENST00000439988.3_Missense_Mutation_p.R653W|MDGA2_ENST00000426342.1_Missense_Mutation_p.R355W|SNORA25_ENST00000515926.1_RNA	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	584	Ig-like 6.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TGACCCGTCCGTAATAATTTA	0.443																																						uc001wwj.3																			0				ovary(4)|large_intestine(1)|pancreas(1)	6						c.(1750-1752)CGG>TGG		MAM domain containing 1 isoform 1							96.0	96.0	96.0					14																	47426709		1934	4145	6079	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47426709G>A	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1750C>T	14.37:g.47426709G>A	ENSP00000382178:p.Arg584Trp					MDGA2_uc001wwi.3_Missense_Mutation_p.R355W|MDGA2_uc010ani.2_Missense_Mutation_p.R144W	p.R584W	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN			9	1946	-			584			Ig-like 6.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.1750C>T		.	.	.	.	.	.	.	.	.	.	G	19.16	3.772887	0.69992	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.12774	2.65;2.65;2.65;2.65	5.54	3.6	0.41247	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.281428	0.24291	U	0.039813	T	0.20007	0.0481	L	0.34521	1.04	0.80722	D	1	D;D	0.64830	0.994;0.992	P;P	0.58970	0.764;0.849	T	0.00761	-1.1577	10	0.66056	D	0.02	.	9.1998	0.37251	0.0:0.1341:0.517:0.3489	.	355;584	F6W3S7;Q7Z553	.;MDGA2_HUMAN	W	584;355;653;355	ENSP00000400011:R584W;ENSP00000405456:R355W;ENSP00000382178:R653W;ENSP00000349925:R355W	ENSP00000349925:R355W	R	-	1	2	MDGA2	46496459	0.988000	0.35896	1.000000	0.80357	0.992000	0.81027	1.615000	0.36922	0.575000	0.29434	-0.127000	0.14921	CGG		0.443	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830	
UNC79	57578	broad.mit.edu	37	14	94173118	94173118	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr14:94173118G>C	ENST00000393151.2	+	50	7776	c.7776G>C	c.(7774-7776)agG>agC	p.R2592S	UNC79_ENST00000256339.4_Missense_Mutation_p.R2415S|UNC79_ENST00000555664.1_Missense_Mutation_p.R2553S|UNC79_ENST00000553484.1_Missense_Mutation_p.R2614S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2592					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ACAGCCTAAGGACGCTGCCGG	0.567																																						uc001ybv.1																			0				ovary(10)|skin(4)|large_intestine(3)	17						c.(7309-7311)AGG>AGC		hypothetical protein LOC57578							71.0	75.0	74.0					14																	94173118		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94173118G>C	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.7776G>C	14.37:g.94173118G>C	ENSP00000376858:p.Arg2592Ser					KIAA1409_uc001ybs.1_Missense_Mutation_p.R2415S	p.R2437S	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	48	7394	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	2592					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.7311G>C		.	.	.	.	.	.	.	.	.	.	G	18.55	3.648691	0.67358	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.18174	2.23;2.25;2.23;2.23	5.94	5.94	0.96194	.	0.049202	0.85682	D	0.000000	T	0.15565	0.0375	N	0.25647	0.755	0.58432	D	0.999999	B	0.22541	0.071	B	0.15484	0.013	T	0.05716	-1.0868	10	0.30854	T	0.27	-21.9319	20.3632	0.98871	0.0:0.0:1.0:0.0	.	2614	C9JQL1	.	S	2415;2553;2614;2592;2614	ENSP00000256339:R2415S;ENSP00000450868:R2553S;ENSP00000451360:R2614S;ENSP00000376858:R2592S	ENSP00000256339:R2415S	R	+	3	2	KIAA1409	93242871	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.787000	0.75099	2.826000	0.97356	0.561000	0.74099	AGG		0.567	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395	
UNC79	57578	broad.mit.edu	37	14	94173139	94173139	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr14:94173139G>C	ENST00000393151.2	+	50	7797	c.7797G>C	c.(7795-7797)caG>caC	p.Q2599H	UNC79_ENST00000256339.4_Missense_Mutation_p.Q2422H|UNC79_ENST00000555664.1_Missense_Mutation_p.Q2560H|UNC79_ENST00000553484.1_Missense_Mutation_p.Q2621H			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2599					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCTCGGGCCAGAGCAGTGCTG	0.577																																						uc001ybv.1																			0				ovary(10)|skin(4)|large_intestine(3)	17						c.(7330-7332)CAG>CAC		hypothetical protein LOC57578							67.0	70.0	69.0					14																	94173139		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94173139G>C	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.7797G>C	14.37:g.94173139G>C	ENSP00000376858:p.Gln2599His					KIAA1409_uc001ybs.1_Missense_Mutation_p.Q2422H	p.Q2444H	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	48	7415	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	2599					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.7332G>C		.	.	.	.	.	.	.	.	.	.	G	17.82	3.484176	0.63962	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.19669	2.13;2.14;2.13;2.13	6.08	5.18	0.71444	.	0.340814	0.32769	N	0.005672	T	0.27241	0.0668	L	0.53249	1.67	0.48571	D	0.999672	P	0.47253	0.892	P	0.47251	0.542	T	0.00335	-1.1808	10	0.38643	T	0.18	-11.2203	12.9904	0.58616	0.1263:0.0:0.8737:0.0	.	2621	C9JQL1	.	H	2422;2560;2621;2599;2621	ENSP00000256339:Q2422H;ENSP00000450868:Q2560H;ENSP00000451360:Q2621H;ENSP00000376858:Q2599H	ENSP00000256339:Q2422H	Q	+	3	2	KIAA1409	93242892	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.102000	0.41796	2.894000	0.99253	0.655000	0.94253	CAG		0.577	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395	
RPS8P10	388076	broad.mit.edu	37	15	22440722	22440722	+	IGR	SNP	C	C	T	rs549685294		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr15:22440722C>T								RP11-2F9.4 (4545 upstream) : IGHV1OR15-1 (7659 downstream)																							TGTGTGGATGCGGCGGGGGCC	0.547													a|||	1	0.000199681	0.0	0.0	5008	,	,		30956	0.001		0.0	False		,,,				2504	0.0					uc001yug.2																			0											c.(124-126)CGC>CAC		full-length cDNA clone CS0DI014YE21 of Placenta Cot 25-normalized of Homo sapiens (human).																																				SO:0001628	intergenic_variant	0							g.chr15:22440722C>T																													15.37:g.22440722C>T							p.R42H							1	144	-									Missense_Mutation	SNP		37	c.125G>A																																																																																				0	0.547								
BAHD1	22893	broad.mit.edu	37	15	40751616	40751616	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr15:40751616T>C	ENST00000416165.1	+	2	1024	c.953T>C	c.(952-954)aTg>aCg	p.M318T	BAHD1_ENST00000561234.1_Missense_Mutation_p.M318T|BAHD1_ENST00000560846.1_Missense_Mutation_p.M318T	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	318	Pro-rich.				heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CCCCTGCTGATGGGTGGACAG	0.652																																						uc001zlu.2																			0					0						c.(952-954)ATG>ACG		bromo adjacent homology domain containing 1							33.0	40.0	38.0					15																	40751616		2199	4298	6497	SO:0001583	missense	22893				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	g.chr15:40751616T>C	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.953T>C	15.37:g.40751616T>C	ENSP00000396976:p.Met318Thr					BAHD1_uc001zlt.2_Missense_Mutation_p.M318T|BAHD1_uc010bbp.1_Missense_Mutation_p.M318T|BAHD1_uc001zlv.2_Missense_Mutation_p.M318T	p.M318T	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	2	1024	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	318			Pro-rich.		Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	ENST00000416165.1	37	c.953T>C	CCDS10058.1	.	.	.	.	.	.	.	.	.	.	T	16.92	3.254182	0.59212	.	.	ENSG00000140320	ENST00000416165	T	0.71579	-0.58	5.83	5.83	0.93111	.	0.047718	0.85682	D	0.000000	T	0.73606	0.3608	L	0.27053	0.805	0.48830	D	0.999713	D;D;D	0.62365	0.991;0.985;0.991	P;P;P	0.59595	0.86;0.728;0.86	T	0.77189	-0.2679	10	0.72032	D	0.01	-18.7691	16.1937	0.82011	0.0:0.0:0.0:1.0	.	318;318;318	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	T	318	ENSP00000396976:M318T	ENSP00000396976:M318T	M	+	2	0	BAHD1	38538908	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	4.644000	0.61397	2.220000	0.72140	0.533000	0.62120	ATG		0.652	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952	
CYP19A1	1588	broad.mit.edu	37	15	51507426	51507426	+	Missense_Mutation	SNP	G	G	A	rs181766689		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr15:51507426G>A	ENST00000396402.1	-	8	1015	c.862C>T	c.(862-864)Cgt>Tgt	p.R288C	CYP19A1_ENST00000396404.4_Missense_Mutation_p.R288C|CYP19A1_ENST00000260433.2_Missense_Mutation_p.R288C|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000559878.1_Missense_Mutation_p.R288C	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	288					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|prostate gland growth (GO:0060736)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)	aromatase activity (GO:0070330)|electron carrier activity (GO:0009055)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)	AGGTCACCACGTTTCTGAACA	0.403													G|||	1	0.000199681	0.0	0.0	5008	,	,		19145	0.0		0.001	False		,,,				2504	0.0				Melanoma(142;1016 1807 39614 48966 51721)	uc001zyz.3																			0				skin(3)	3						c.(862-864)CGT>TGT		cytochrome P450, family 19	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)						105.0	97.0	100.0					15																	51507426		2196	4293	6489	SO:0001583	missense	1588				estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr15:51507426G>A	D14473	CCDS10139.1	15q21	2009-01-26	2003-02-14	2003-02-28	ENSG00000137869	ENSG00000137869		"""Cytochrome P450s"""	2594	protein-coding gene	gene with protein product		107910	"""cytochrome P450, subfamily XIX (aromatization of androgens)"""	CYP19		8477708	Standard	NM_031226		Approved	ARO, P-450AROM, CPV1, ARO1, CYAR, aromatase	uc001zza.4	P11511	OTTHUMG00000131747	ENST00000396402.1:c.862C>T	15.37:g.51507426G>A	ENSP00000379683:p.Arg288Cys					CYP19A1_uc001zza.3_Missense_Mutation_p.R288C|CYP19A1_uc001zzb.2_Missense_Mutation_p.R288C	p.R288C	NM_031226	NP_112503	P11511	CP19A_HUMAN		all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	9	1113	-			288					Q16731|Q3B764|Q58FA0|Q8IYJ7	Missense_Mutation	SNP	ENST00000396402.1	37	c.862C>T	CCDS10139.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	17.22	3.333958	0.60853	.	.	ENSG00000137869	ENST00000396402;ENST00000260433;ENST00000396404;ENST00000420301;ENST00000439712	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	5.93	5.93	0.95920	.	0.215850	0.48286	D	0.000185	T	0.62171	0.2406	M	0.66506	2.035	0.80722	D	1	P	0.40180	0.705	B	0.29267	0.1	T	0.67875	-0.5557	10	0.56958	D	0.05	-13.9625	15.9857	0.80151	0.0:0.0:0.8575:0.1425	.	288	P11511	CP19A_HUMAN	C	288	ENSP00000379683:R288C;ENSP00000260433:R288C;ENSP00000379685:R288C;ENSP00000390614:R288C	ENSP00000260433:R288C	R	-	1	0	CYP19A1	49294718	1.000000	0.71417	0.993000	0.49108	0.198000	0.23893	5.291000	0.65667	2.826000	0.97356	0.655000	0.94253	CGT		0.403	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254669.1		
CILP	8483	broad.mit.edu	37	15	65490345	65490345	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr15:65490345C>T	ENST00000261883.4	-	9	2445	c.2279G>A	c.(2278-2280)cGg>cAg	p.R760Q		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	760					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CCTCTCACTCCGGTAGGCCCT	0.547																																						uc002aon.2																			0				ovary(4)|pancreas(2)|skin(1)	7						c.(2278-2280)CGG>CAG		cartilage intermediate layer protein							120.0	123.0	122.0					15																	65490345		2202	4299	6501	SO:0001583	missense	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65490345C>T	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.2279G>A	15.37:g.65490345C>T	ENSP00000261883:p.Arg760Gln						p.R760Q	NM_003613	NP_003604	O75339	CILP1_HUMAN			9	2460	-			760					B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	c.2279G>A	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.895174	0.52121	.	.	ENSG00000138615	ENST00000261883	T	0.09817	2.94	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.20861	0.0502	L	0.50919	1.6	0.58432	D	0.999998	D	0.71674	0.998	P	0.56648	0.803	T	0.03249	-1.1056	10	0.11794	T	0.64	-18.9104	18.1161	0.89555	0.0:1.0:0.0:0.0	.	760	O75339	CILP1_HUMAN	Q	760	ENSP00000261883:R760Q	ENSP00000261883:R760Q	R	-	2	0	CILP	63277398	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.772000	0.85439	2.584000	0.87258	0.563000	0.77884	CGG		0.547	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613	
SLX4	84464	broad.mit.edu	37	16	3642834	3642834	+	Silent	SNP	G	G	A	rs551541558		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr16:3642834G>A	ENST00000294008.3	-	11	2833	c.2193C>T	c.(2191-2193)gaC>gaT	p.D731D		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	731	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.|Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TCAGAACCCCGTCCTCTACAG	0.567								Direct reversal of damage					G|||	1	0.000199681	0.0008	0.0	5008	,	,		16450	0.0		0.0	False		,,,				2504	0.0					uc002cvp.2																			0					0						c.(2191-2193)GAC>GAT	Direct_reversal_of_damage|Homologous_recombination	BTB (POZ) domain containing 12							56.0	51.0	53.0					16																	3642834		2197	4300	6497	SO:0001819	synonymous_variant	84464	Fanconi_Anemia			DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3642834G>A	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.2193C>T	16.37:g.3642834G>A							p.D731D	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN			11	2820	-			731			BTB.|Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Silent	SNP	ENST00000294008.3	37	c.2193C>T	CCDS10506.2																																																																																				0.567	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444	
ANKRD11	29123	broad.mit.edu	37	16	89351279	89351279	+	Silent	SNP	C	C	T	rs562839386		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr16:89351279C>T	ENST00000301030.4	-	9	2131	c.1671G>A	c.(1669-1671)ccG>ccA	p.P557P	ANKRD11_ENST00000378330.2_Silent_p.P557P	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	557	Ser-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTGACCAAGCCGGGGAAGAAA	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		18950	0.0		0.0	False		,,,				2504	0.001					uc002fmx.1																			0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(1669-1671)CCG>CCA		ankyrin repeat domain 11							46.0	47.0	46.0					16																	89351279		2198	4300	6498	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89351279C>T	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.1671G>A	16.37:g.89351279C>T						ANKRD11_uc002fmy.1_Silent_p.P557P|ANKRD11_uc002fnc.1_Silent_p.P557P|ANKRD11_uc002fnb.1_Silent_p.P514P	p.P557P	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	2132	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	557			Ser-rich.		Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.1671G>A	CCDS32513.1																																																																																				0.562	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275	
SLC13A5	284111	broad.mit.edu	37	17	6604344	6604344	+	Missense_Mutation	SNP	T	T	G	rs77405963		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr17:6604344T>G	ENST00000433363.2	-	6	1051	c.818A>C	c.(817-819)cAg>cCg	p.Q273P	SLC13A5_ENST00000573648.1_Missense_Mutation_p.Q273P|SLC13A5_ENST00000293800.6_Missense_Mutation_p.Q256P|SLC13A5_ENST00000381074.4_Missense_Mutation_p.Q230P	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	273					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						GTAAACAAACTGGAGCCACAG	0.473																																						uc002gdj.2																			0					0						c.(817-819)CAG>CCG		solute carrier family 13, member 5 isoform a							80.0	68.0	72.0					17																	6604344		2203	4300	6503	SO:0001583	missense	284111					integral to membrane	citrate transmembrane transporter activity	g.chr17:6604344T>G	AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"""Solute carriers"""	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.818A>C	17.37:g.6604344T>G	ENSP00000406220:p.Gln273Pro					SLC13A5_uc010vtf.1_Missense_Mutation_p.Q273P|SLC13A5_uc010clq.2_Missense_Mutation_p.Q230P|SLC13A5_uc002gdk.2_Missense_Mutation_p.Q256P|SLC13A5_uc002gdl.1_Missense_Mutation_p.Q255P	p.Q273P	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN			6	906	-			273					B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Missense_Mutation	SNP	ENST00000433363.2	37	c.818A>C	CCDS11079.1	.	.	.	.	.	.	.	.	.	.	T	11.08	1.533480	0.27387	.	.	ENSG00000141485	ENST00000293800;ENST00000433363;ENST00000381074	T;T	0.03272	3.99;3.99	5.2	0.208	0.15221	.	0.347275	0.34802	N	0.003678	T	0.17365	0.0417	M	0.93150	3.385	0.46586	D	0.999115	P;P;P;P;P	0.44260	0.732;0.821;0.732;0.732;0.83	P;P;P;P;P	0.61003	0.882;0.776;0.857;0.781;0.87	T	0.00184	-1.1944	10	0.72032	D	0.01	.	5.0807	0.14655	0.396:0.0795:0.0:0.5245	.	273;230;230;256;273	B7ZLB4;F8W7N2;B7Z4P2;B3KXR0;Q86YT5	.;.;.;.;S13A5_HUMAN	P	273;273;230	ENSP00000406220:Q273P;ENSP00000370464:Q230P	ENSP00000293800:Q273P	Q	-	2	0	SLC13A5	6545068	1.000000	0.71417	0.169000	0.22859	0.009000	0.06853	3.142000	0.50601	-0.185000	0.10550	-2.699000	0.00136	CAG		0.473	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2	NM_177550	
COX10	1352	broad.mit.edu	37	17	14110273	14110273	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr17:14110273C>T	ENST00000261643.3	+	7	1152	c.1075C>T	c.(1075-1077)Cgc>Tgc	p.R359C	COX10_ENST00000537334.1_Missense_Mutation_p.R142C|COX10_ENST00000536205.1_Missense_Mutation_p.R167C	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	359					aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495)			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		CGTGGCGCTGCGCCACTGCCT	0.657																																						uc002gof.3																			0					0						c.(1075-1077)CGC>TGC		heme A:farnesyltransferase precursor							81.0	71.0	74.0					17																	14110273		2203	4300	6503	SO:0001583	missense	1352				heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity	g.chr17:14110273C>T	U09466	CCDS11166.1	17p12	2013-05-24	2012-10-15		ENSG00000006695	ENSG00000006695		"""Mitochondrial respiratory chain complex assembly factors"""	2260	protein-coding gene	gene with protein product	"""heme A: farnesyltransferase"", ""protoheme IX farnesyltransferase, mitochondrial"", ""heme O synthase"""	602125	"""COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase)"", ""COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)"""			9177788, 12928484	Standard	NM_001303		Approved		uc002gof.4	Q12887	OTTHUMG00000058814	ENST00000261643.3:c.1075C>T	17.37:g.14110273C>T	ENSP00000261643:p.Arg359Cys					COX10_uc010vvs.1_Missense_Mutation_p.R142C|COX10_uc010vvt.1_Missense_Mutation_p.R167C	p.R359C	NM_001303	NP_001294	Q12887	COX10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)	7	1279	+		all_lung(20;0.06)|Lung SC(565;0.168)	359					B2R6U5|B4DJ50|O15334|Q969F7	Missense_Mutation	SNP	ENST00000261643.3	37	c.1075C>T	CCDS11166.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.620775	0.87460	.	.	ENSG00000006695	ENST00000261643;ENST00000536205;ENST00000537334	D;D;D	0.92911	-3.13;-3.13;-3.13	4.79	3.78	0.43462	.	0.000000	0.85682	D	0.000000	D	0.96738	0.8935	M	0.92317	3.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97445	1.0024	10	0.87932	D	0	-17.7441	14.2808	0.66211	0.1502:0.8498:0.0:0.0	.	167;359	B4DJ50;Q12887	.;COX10_HUMAN	C	359;167;142	ENSP00000261643:R359C;ENSP00000439494:R167C;ENSP00000443354:R142C	ENSP00000261643:R359C	R	+	1	0	COX10	14050998	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.295000	0.78780	1.100000	0.41517	0.561000	0.74099	CGC		0.657	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130003.1	NM_001303	
SYNRG	11276	broad.mit.edu	37	17	35928904	35928904	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr17:35928904C>G	ENST00000339208.6	-	11	1610	c.1470G>C	c.(1468-1470)caG>caC	p.Q490H	SYNRG_ENST00000345615.4_Missense_Mutation_p.Q412H|SYNRG_ENST00000591288.1_Missense_Mutation_p.Q329H|SYNRG_ENST00000585472.1_Missense_Mutation_p.Q411H|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000502449.2_Missense_Mutation_p.Q412H|SYNRG_ENST00000394378.2_Missense_Mutation_p.Q412H|SYNRG_ENST00000346661.4_Missense_Mutation_p.Q490H	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	490					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGTTTCCATGCTGGGAGTTAC	0.363																																						uc002hoa.2																			0				ovary(2)	2						c.(1468-1470)CAG>CAC		synergin, gamma isoform 1							106.0	107.0	106.0					17																	35928904		2203	4300	6503	SO:0001583	missense	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35928904C>G	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.1470G>C	17.37:g.35928904C>G	ENSP00000343610:p.Gln490His					SYNRG_uc010wde.1_Missense_Mutation_p.Q412H|SYNRG_uc010wdf.1_Missense_Mutation_p.Q412H|SYNRG_uc002hoc.2_Missense_Mutation_p.Q411H|SYNRG_uc002hoe.2_Missense_Mutation_p.Q412H|SYNRG_uc002hod.2_Missense_Mutation_p.Q412H|SYNRG_uc010wdg.1_Missense_Mutation_p.Q329H|SYNRG_uc002hob.2_Missense_Mutation_p.Q490H|SYNRG_uc002hof.2_Missense_Mutation_p.Q202H|SYNRG_uc010cvd.1_Missense_Mutation_p.Q290H|SYNRG_uc002hog.1_Missense_Mutation_p.Q624H	p.Q490H	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN			11	1553	-			490					A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	37	c.1470G>C	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.481942	0.63849	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378	T;T;T	0.51325	1.28;0.71;0.72	5.77	3.46	0.39613	.	0.114912	0.64402	D	0.000014	T	0.61652	0.2364	L	0.56769	1.78	0.49483	D	0.999794	D;D;D;D;D;D	0.76494	0.996;0.997;0.997;0.997;0.999;0.999	D;D;D;D;D;D	0.85130	0.953;0.957;0.957;0.957;0.997;0.997	T	0.59193	-0.7500	10	0.27785	T	0.31	-7.5987	13.4397	0.61106	0.0:0.852:0.0:0.148	.	329;412;412;412;490;490	B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;SYNRG_HUMAN	H	490;329;490;412;412	ENSP00000005279:Q490H;ENSP00000424893:Q412H;ENSP00000377903:Q412H	ENSP00000343610:Q329H	Q	-	3	2	SYNRG	33003017	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.062000	0.30555	1.462000	0.47948	0.585000	0.79938	CAG		0.363	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247	
KRT34	3885	broad.mit.edu	37	17	39535345	39535345	+	Silent	SNP	G	G	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr17:39535345G>A	ENST00000394001.1	-	6	1116	c.1086C>T	c.(1084-1086)aaC>aaT	p.N362N		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	362	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				GAGACTCCACGTTGGTGATCA	0.617																																						uc002hwm.2																			0				central_nervous_system(1)	1						c.(1084-1086)AAC>AAT		keratin 34							120.0	103.0	109.0					17																	39535345		2203	4300	6503	SO:0001819	synonymous_variant	3885				epidermis development	intermediate filament	protein binding|structural molecule activity	g.chr17:39535345G>A	Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6452	protein-coding gene	gene with protein product	"""hard keratin type I 4"""	602763	"""keratin, hair, acidic, 4"""	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.1086C>T	17.37:g.39535345G>A							p.N362N	NM_021013	NP_066293	O76011	KRT34_HUMAN			6	1098	-		Breast(137;0.000496)	362			Rod.|Coil 2.		Q8IUT8|Q8N4W2	Silent	SNP	ENST00000394001.1	37	c.1086C>T	CCDS11390.1																																																																																				0.617	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257304.3	NM_021013	
ARMC7	79637	broad.mit.edu	37	17	73125017	73125017	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr17:73125017C>T	ENST00000245543.1	+	3	783	c.481C>T	c.(481-483)Cag>Tag	p.Q161*	NT5C_ENST00000579082.1_5'Flank|ARMC7_ENST00000581078.1_3'UTR|ARMC7_ENST00000579096.1_3'UTR	NM_024585.2	NP_078861.1	Q9H6L4	ARMC7_HUMAN	armadillo repeat containing 7	161						cytoplasm (GO:0005737)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|pancreas(3)	9	all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			GAACCTGGCACAGATCTTCCT	0.706																																						uc002jmw.1																			0				pancreas(1)	1						c.(481-483)CAG>TAG		armadillo repeat containing 7							19.0	18.0	19.0					17																	73125017		2203	4298	6501	SO:0001587	stop_gained	79637						binding	g.chr17:73125017C>T	AK025813	CCDS11714.1	17q25	2013-02-14				ENSG00000125449		"""Armadillo repeat containing"""	26168	protein-coding gene	gene with protein product						12477932	Standard	NM_024585		Approved	FLJ22160	uc002jmw.1	Q9H6L4		ENST00000245543.1:c.481C>T	17.37:g.73125017C>T	ENSP00000245543:p.Gln161*					ARMC7_uc010wru.1_3'UTR|ARMC7_uc010dga.1_RNA	p.Q161*	NM_024585	NP_078861	Q9H6L4	ARMC7_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		3	783	+	all_lung(278;0.14)|Lung NSC(278;0.168)		161					B4DVA4	Nonsense_Mutation	SNP	ENST00000245543.1	37	c.481C>T	CCDS11714.1	.	.	.	.	.	.	.	.	.	.	C	35	5.521455	0.96416	.	.	ENSG00000125449	ENST00000245543	.	.	.	5.18	3.08	0.35506	.	0.764807	0.12308	N	0.480434	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.2243	0.06726	0.3425:0.4475:0.1205:0.0894	.	.	.	.	X	161	.	ENSP00000245543:Q161X	Q	+	1	0	ARMC7	70636612	0.000000	0.05858	1.000000	0.80357	0.946000	0.59487	0.771000	0.26633	2.595000	0.87683	0.655000	0.94253	CAG		0.706	ARMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445846.1	NM_024585	
ANKRD12	23253	broad.mit.edu	37	18	9280962	9280962	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr18:9280962A>C	ENST00000262126.4	+	13	6267	c.6027A>C	c.(6025-6027)caA>caC	p.Q2009H	ANKRD12_ENST00000383440.2_Missense_Mutation_p.Q1986H|ANKRD12_ENST00000400020.3_Missense_Mutation_p.Q1986H|snoU13_ENST00000459594.1_RNA	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	2009						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TGAGGCAACAACATGAAGCTG	0.363																																						uc002knv.2																			0				ovary(2)|central_nervous_system(1)	3						c.(6025-6027)CAA>CAC		ankyrin repeat domain 12 isoform 1							81.0	85.0	84.0					18																	9280962		2203	4300	6503	SO:0001583	missense	23253					nucleus		g.chr18:9280962A>C	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.6027A>C	18.37:g.9280962A>C	ENSP00000262126:p.Gln2009His					ANKRD12_uc002knw.2_Missense_Mutation_p.Q1986H|ANKRD12_uc002knx.2_Missense_Mutation_p.Q1986H	p.Q2009H	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN			13	6284	+			2009					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	c.6027A>C	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	A	14.75	2.628124	0.46944	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.68765	-0.34;-0.35	5.38	4.22	0.49857	.	0.000000	0.85682	D	0.000000	T	0.66636	0.2809	N	0.20530	0.585	0.54753	D	0.999983	D;D	0.76494	0.999;0.998	D;D	0.85130	0.997;0.993	T	0.66822	-0.5826	10	0.54805	T	0.06	-16.9624	7.5682	0.27892	0.7541:0.0:0.2459:0.0	.	1986;2009	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	H	1986;2009	ENSP00000372932:Q1986H;ENSP00000262126:Q2009H	ENSP00000262126:Q2009H	Q	+	3	2	ANKRD12	9270962	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.674000	0.46867	0.894000	0.36317	0.482000	0.46254	CAA		0.363	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208	
GALR1	2587	broad.mit.edu	37	18	74962646	74962646	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr18:74962646G>A	ENST00000299727.3	+	1	142	c.142G>A	c.(142-144)Gtg>Atg	p.V48M		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	48					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|digestion (GO:0007586)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		CGCGCTGGGTGTGCTGGGCAA	0.682																																						uc002lms.3																			0				lung(1)	1						c.(142-144)GTG>ATG		galanin receptor 1							37.0	35.0	36.0					18																	74962646		2203	4299	6502	SO:0001583	missense	2587				digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	g.chr18:74962646G>A	U90658	CCDS12012.1	18q23	2012-08-08			ENSG00000166573	ENSG00000166573		"""GPCR / Class A : Galanin receptors"""	4132	protein-coding gene	gene with protein product		600377		GALNR1, GALNR		7524088	Standard	NM_001480		Approved		uc002lms.4	P47211	OTTHUMG00000132875	ENST00000299727.3:c.142G>A	18.37:g.74962646G>A	ENSP00000299727:p.Val48Met						p.V48M	NM_001480	NP_001471	P47211	GALR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)	1	639	+		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)	48			Helical; Name=1; (Potential).		Q4VBL7	Missense_Mutation	SNP	ENST00000299727.3	37	c.142G>A	CCDS12012.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.875642	0.72180	.	.	ENSG00000166573	ENST00000299727	T	0.41758	0.99	4.76	4.76	0.60689	.	0.060193	0.64402	D	0.000003	T	0.46210	0.1381	L	0.55481	1.735	0.80722	D	1	P	0.36495	0.556	B	0.40702	0.338	T	0.51458	-0.8703	10	0.59425	D	0.04	.	17.3729	0.87383	0.0:0.0:1.0:0.0	.	48	P47211	GALR1_HUMAN	M	48	ENSP00000299727:V48M	ENSP00000299727:V48M	V	+	1	0	GALR1	73091634	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.342000	0.72982	2.192000	0.70111	0.585000	0.79938	GTG		0.682	GALR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256362.1		
OR7G2	390882	broad.mit.edu	37	19	9213120	9213120	+	Nonsense_Mutation	SNP	G	G	C			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr19:9213120G>C	ENST00000305456.2	-	1	862	c.863C>G	c.(862-864)tCa>tGa	p.S288*		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						CTTCCTAGGTGAGTCAGTAAC	0.463																																					Esophageal Squamous(67;143 1448 28637 40648)	uc010xkk.1																			0				skin(1)	1						c.(862-864)TCA>TGA		olfactory receptor, family 7, subfamily G,							118.0	103.0	108.0					19																	9213120		2203	4300	6503	SO:0001587	stop_gained	390882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9213120G>C		CCDS32897.1	19p13.2	2013-09-24			ENSG00000170923	ENSG00000170923		"""GPCR / Class A : Olfactory receptors"""	8466	protein-coding gene	gene with protein product							Standard	NM_001005193		Approved	OST260	uc010xkk.2	Q8NG99	OTTHUMG00000179931	ENST00000305456.2:c.863C>G	19.37:g.9213120G>C	ENSP00000303822:p.Ser288*						p.S288*	NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN			1	863	-			267			Extracellular (Potential).		Q6IFJ4|Q96RA0	Nonsense_Mutation	SNP	ENST00000305456.2	37	c.863C>G	CCDS32897.1	.	.	.	.	.	.	.	.	.	.	g	12.58	1.979463	0.34942	.	.	ENSG00000170923	ENST00000305456	.	.	.	3.14	-0.532	0.11890	.	0.240862	0.21370	U	0.075659	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.2096	0.20621	0.096:0.0:0.581:0.323	.	.	.	.	X	288	.	ENSP00000303822:S288X	S	-	2	0	OR7G2	9074120	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.328000	0.19681	0.027000	0.15297	0.447000	0.29281	TCA		0.463	OR7G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448994.1		
C19orf44	84167	broad.mit.edu	37	19	16612069	16612069	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr19:16612069C>T	ENST00000221671.3	+	2	622	c.466C>T	c.(466-468)Cgt>Tgt	p.R156C	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.R156C	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	156										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GAATCAAGCCCGTGAACTTCC	0.498																																						uc002neh.1																			0					0						c.(466-468)CGT>TGT		hypothetical protein LOC84167							76.0	79.0	78.0					19																	16612069		2203	4300	6503	SO:0001583	missense	84167							g.chr19:16612069C>T	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.466C>T	19.37:g.16612069C>T	ENSP00000221671:p.Arg156Cys					MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.R156C|C19orf44_uc002neg.2_Missense_Mutation_p.R156C|C19orf44_uc010eai.1_RNA	p.R156C	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN			2	539	+			156					Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	c.466C>T	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.478736	0.26511	.	.	ENSG00000105072	ENST00000221671	.	.	.	4.4	-8.51	0.00923	.	3.120120	0.00807	N	0.001474	T	0.14313	0.0346	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.08055	0.001;0.003	T	0.11842	-1.0571	9	0.51188	T	0.08	4.487	0.2655	0.00224	0.2307:0.1881:0.2445:0.3367	.	156;156	Q9H6X5;Q9H6X5-2	CS044_HUMAN;.	C	156	.	ENSP00000221671:R156C	R	+	1	0	C19orf44	16473069	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.816000	0.04477	-1.165000	0.02786	-0.835000	0.03068	CGT		0.498	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207	
KLHL26	55295	broad.mit.edu	37	19	18779533	18779533	+	Silent	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr19:18779533C>T	ENST00000300976.4	+	3	1416	c.1326C>T	c.(1324-1326)taC>taT	p.Y442Y	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	442										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						AGTGGGGCTACGCCTGCTCGC	0.701																																						uc002njz.1																			0				ovary(1)	1						c.(1324-1326)TAC>TAT		kelch-like 26							11.0	14.0	13.0					19																	18779533		2189	4281	6470	SO:0001819	synonymous_variant	55295							g.chr19:18779533C>T		CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"""Kelch-like"", ""BTB/POZ domain containing"""	25623	protein-coding gene	gene with protein product			"""kelch-like 26 (Drosophila)"""				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.1326C>T	19.37:g.18779533C>T							p.Y442Y	NM_018316	NP_060786	Q53HC5	KLH26_HUMAN			3	1353	+			442			Kelch 3.		Q8TAP0|Q9NUX3	Silent	SNP	ENST00000300976.4	37	c.1326C>T	CCDS12384.1																																																																																				0.701	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1	NM_018316	
APLP1	333	broad.mit.edu	37	19	36363501	36363501	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr19:36363501C>T	ENST00000221891.4	+	7	1159	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C	APLP1_ENST00000586861.1_Missense_Mutation_p.R317C|APLP1_ENST00000537454.2_Missense_Mutation_p.R284C	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	323	Heparin-binding. {ECO:0000250}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCGTAGGATGCGCCAGATTAA	0.537																																						uc002oce.2																			0				ovary(2)	2						c.(967-969)CGC>TGC		amyloid precursor-like protein 1 isoform 2							111.0	108.0	109.0					19																	36363501		2203	4300	6503	SO:0001583	missense	333				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	g.chr19:36363501C>T	U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.967C>T	19.37:g.36363501C>T	ENSP00000221891:p.Arg323Cys					APLP1_uc010xsz.1_Missense_Mutation_p.R284C|APLP1_uc002ocf.2_Missense_Mutation_p.R323C|APLP1_uc002ocg.2_Missense_Mutation_p.R226C|APLP1_uc010xta.1_Missense_Mutation_p.R317C	p.R323C	NM_005166	NP_005157	P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	1105	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		323			Heparin-binding (By similarity).|Extracellular (Potential).		O00113|Q96A92	Missense_Mutation	SNP	ENST00000221891.4	37	c.967C>T	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.772875	0.69992	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	T;T	0.45668	0.89;0.89	4.89	3.85	0.44370	Amyloidogenic glycoprotein, E2 domain (2);	0.000000	0.46442	D	0.000286	T	0.47544	0.1451	L	0.36672	1.1	0.58432	D	0.999994	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;P;D;D	0.74674	0.984;0.869;0.973;0.984	T	0.48410	-0.9038	10	0.72032	D	0.01	-18.5149	5.4414	0.16511	0.2004:0.6985:0.0:0.101	.	317;284;323;323	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	C	284;323	ENSP00000441501:R284C;ENSP00000221891:R323C	ENSP00000221891:R323C	R	+	1	0	APLP1	41055341	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.209000	0.58493	2.270000	0.75569	0.462000	0.41574	CGC		0.537	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807	
PSG8	440533	broad.mit.edu	37	19	43269670	43269670	+	Splice_Site	SNP	C	C	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr19:43269670C>A	ENST00000306511.4	-	1	161	c.64G>T	c.(64-66)Gca>Tca	p.A22S	PSG8_ENST00000401467.2_Intron|PSG8_ENST00000406636.3_Splice_Site_p.V22L|PSG8_ENST00000404209.4_Splice_Site_p.A22S	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	22						extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CTCTCCTCACCTGTGAGCAGG	0.567																																						uc002ouo.2																			0					0						c.(64-66)GCA>TCA		pregnancy specific beta-1-glycoprotein 8 isoform							104.0	105.0	105.0					19																	43269670		1511	2707	4218	SO:0001630	splice_region_variant	440533					extracellular region		g.chr19:43269670C>A	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.64+1G>T	19.37:g.43269670C>A						PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc002oui.2_5'UTR|PSG8_uc002ouh.2_Missense_Mutation_p.A22S|PSG8_uc010ein.2_Missense_Mutation_p.V22L|PSG8_uc002ouj.3_Intron|PSG8_uc002ouk.3_Intron|PSG8_uc002oul.3_Intron|PSG8_uc002oum.3_Intron|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Intron	p.A22S	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN			1	162	-		Prostate(69;0.00899)	22					A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.64G>T	CCDS33037.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	16.43|16.43	3.121085|3.121085	0.56613|0.56613	.|.	.|.	ENSG00000124467|ENSG00000124467	ENST00000404209;ENST00000401467;ENST00000407488;ENST00000306511|ENST00000406636	T;T;T|T	0.28895|0.22539	1.59;2.68;1.59|1.95	1.35|1.35	1.35|1.35	0.21983|0.21983	.|.	.|.	.|.	.|.	.|.	T|T	0.20981|0.20981	0.0505|0.0505	M|M	0.73217|0.73217	2.22|2.22	0.19775|0.19775	N|N	0.999951|0.999951	P;P|B	0.49696|0.02656	0.927;0.699|0.0	P;B|B	0.48571|0.04013	0.582;0.348|0.001	T|T	0.19386|0.19386	-1.0307|-1.0307	8|8	.|.	.|.	.|.	.|.	6.1568|6.1568	0.20342|0.20342	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	22;22|22	Q9UQ74;A5PKV3|Q9UQ74-2	PSG8_HUMAN;.|.	S|L	22|22	ENSP00000385869:A22S;ENSP00000386090:A22S;ENSP00000305005:A22S|ENSP00000385081:V22L	.|.	A|V	-|-	1|1	0|0	PSG8|PSG8	47961510|47961510	0.986000|0.986000	0.35501|0.35501	0.958000|0.958000	0.39756|0.39756	0.268000|0.268000	0.26511|0.26511	1.703000|1.703000	0.37846|0.37846	1.063000|1.063000	0.40649|0.40649	0.184000|0.184000	0.17185|0.17185	GCA|GTG		0.567	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1		Missense_Mutation
ZNF229	7772	broad.mit.edu	37	19	44933156	44933156	+	Silent	SNP	G	G	A	rs536903685		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr19:44933156G>A	ENST00000588931.1	-	6	2233	c.1800C>T	c.(1798-1800)taC>taT	p.Y600Y	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000291187.4_Silent_p.Y594Y|ZNF229_ENST00000591289.1_Intron	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	600					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CGTCACACACGTAGGGCCTCT	0.542													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20014	0.0		0.0	False		,,,				2504	0.0					uc002oze.1																			0				skin(2)|ovary(1)|pancreas(1)	4						c.(1798-1800)TAC>TAT		zinc finger protein 229							64.0	69.0	67.0					19																	44933156		2182	4293	6475	SO:0001819	synonymous_variant	7772				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44933156G>A	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.1800C>T	19.37:g.44933156G>A						ZNF229_uc010ejk.1_Silent_p.Y254Y|ZNF229_uc010ejl.1_Silent_p.Y594Y	p.Y600Y	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN			6	2234	-		Prostate(69;0.0352)	600			C2H2-type 11.		B2RWN3|Q59FV2|Q86WL9	Silent	SNP	ENST00000588931.1	37	c.1800C>T	CCDS42574.1																																																																																				0.542	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518	
SPIB	6689	broad.mit.edu	37	19	50926144	50926144	+	Silent	SNP	G	G	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr19:50926144G>A	ENST00000595883.1	+	4	214	c.189G>A	c.(187-189)ccG>ccA	p.P63P	CTD-2545M3.6_ENST00000599632.1_Missense_Mutation_p.G198S|SPIB_ENST00000439922.2_Intron|SPIB_ENST00000270632.7_Silent_p.P63P|SPIB_ENST00000596074.1_Intron|SPIB_ENST00000597855.1_Silent_p.P63P	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	63					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CCTTCGACCCGGCAGCAGCCG	0.662																																						uc002psd.2																			0				lung(1)|kidney(1)	2						c.(187-189)CCG>CCA		Spi-B transcription factor (Spi-1/PU.1 related)							37.0	45.0	42.0					19																	50926144		2199	4289	6488	SO:0001819	synonymous_variant	6689				regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding	g.chr19:50926144G>A		CCDS33080.1, CCDS58674.1, CCDS59412.1	19q13.3-q13.4	2008-07-22				ENSG00000269404			11242	protein-coding gene	gene with protein product		606802				1406622	Standard	NM_003121		Approved	SPI-B	uc002psd.3	Q01892		ENST00000595883.1:c.189G>A	19.37:g.50926144G>A						SPIB_uc002pse.2_Silent_p.P63P|SPIB_uc010ycc.1_Intron	p.P63P	NM_003121	NP_003112	Q01892	SPIB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)	4	214	+		all_neural(266;0.131)	63					A8K9C9|B4DUG6|Q15359	Silent	SNP	ENST00000595883.1	37	c.189G>A	CCDS33080.1																																																																																				0.662	SPIB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464744.1	NM_003121	
SIGLEC9	27180	broad.mit.edu	37	19	51630497	51630497	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr19:51630497G>A	ENST00000250360.3	+	4	1026	c.959G>A	c.(958-960)tGc>tAc	p.C320Y	SIGLEC9_ENST00000440804.3_Missense_Mutation_p.C320Y	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	320	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GAATTCACCTGCAGAGCTCAG	0.622																																						uc002pvu.2																			0				skin(1)	1						c.(958-960)TGC>TAC		sialic acid binding Ig-like lectin 9 precursor							36.0	36.0	36.0					19																	51630497		2203	4300	6503	SO:0001583	missense	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51630497G>A	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.959G>A	19.37:g.51630497G>A	ENSP00000250360:p.Cys320Tyr					SIGLEC9_uc010yct.1_Missense_Mutation_p.C320Y	p.C320Y	NM_014441	NP_055256	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	4	1026	+		all_neural(266;0.0529)	320			Extracellular (Potential).|Ig-like C2-type 2.		Q6GTU4|Q9BYI9	Missense_Mutation	SNP	ENST00000250360.3	37	c.959G>A	CCDS12825.1	.	.	.	.	.	.	.	.	.	.	.	13.27	2.185623	0.38609	.	.	ENSG00000129450	ENST00000440804;ENST00000250360	T;T	0.61510	0.1;0.1	2.3	2.3	0.28687	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.41823	D	0.000818	T	0.81143	0.4761	H	0.98178	4.165	0.34889	D	0.745307	D	0.69078	0.997	D	0.70016	0.967	D	0.86010	0.1500	10	0.87932	D	0	.	7.7535	0.28911	0.0:0.0:1.0:0.0	.	320	Q9Y336	SIGL9_HUMAN	Y	320	ENSP00000413861:C320Y;ENSP00000250360:C320Y	ENSP00000250360:C320Y	C	+	2	0	SIGLEC9	56322309	0.974000	0.33945	0.354000	0.25760	0.100000	0.18952	3.644000	0.54381	1.127000	0.42034	0.407000	0.27541	TGC		0.622	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441	
ZNF417	147687	broad.mit.edu	37	19	58423432	58423432	+	Silent	SNP	C	C	T	rs202027959		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr19:58423432C>T	ENST00000312026.5	-	2	323	c.159G>A	c.(157-159)tcG>tcA	p.S53S	ZNF417_ENST00000595559.1_Silent_p.S52S|CTD-2583A14.9_ENST00000602124.1_Silent_p.S10S|ZNF417_ENST00000536263.1_5'UTR	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	53	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		ACTTACCCAGCGAGGATATGA	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		22108	0.001		0.0	False		,,,				2504	0.0					uc002qqq.2																			0					0						c.(157-159)TCG>TCA		zinc finger protein 417							49.0	47.0	48.0					19																	58423432		2202	4280	6482	SO:0001819	synonymous_variant	147687				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58423432C>T	BC025783	CCDS12965.1, CCDS74469.1	19q13.43	2013-01-08				ENSG00000173480		"""Zinc fingers, C2H2-type"", ""-"""	20646	protein-coding gene	gene with protein product							Standard	NM_152475		Approved	MGC34079	uc002qqq.3	Q8TAU3		ENST00000312026.5:c.159G>A	19.37:g.58423432C>T						ZNF417_uc010yhm.1_Silent_p.S10S|ZNF417_uc002qqr.2_Silent_p.S52S	p.S53S	NM_152475	NP_689688	Q8TAU3	ZN417_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)	2	358	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	53			KRAB.		B4DEU1	Silent	SNP	ENST00000312026.5	37	c.159G>A	CCDS12965.1																																																																																				0.498	ZNF417-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466860.1	NM_152475	
PRKD3	23683	broad.mit.edu	37	2	37516578	37516578	+	Nonsense_Mutation	SNP	G	G	C			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr2:37516578G>C	ENST00000379066.1	-	5	1400	c.638C>G	c.(637-639)tCa>tGa	p.S213*	PRKD3_ENST00000234179.2_Nonsense_Mutation_p.S213*			O94806	KPCD3_HUMAN	protein kinase D3	213					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				AGATACATTTGACAGACGTCT	0.413																																					Melanoma(80;621 1355 8613 11814 51767)	uc002rqd.2																			0				lung(2)|ovary(1)|central_nervous_system(1)	4						c.(637-639)TCA>TGA		protein kinase D3							107.0	102.0	104.0					2																	37516578		2203	4300	6503	SO:0001587	stop_gained	23683				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr2:37516578G>C	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.638C>G	2.37:g.37516578G>C	ENSP00000368356:p.Ser213*					PRKD3_uc002rqf.1_Nonsense_Mutation_p.S213*	p.S213*	NM_005813	NP_005804	O94806	KPCD3_HUMAN			4	1193	-		all_hematologic(82;0.21)	213					D6W587|Q53TR7|Q8NEL8	Nonsense_Mutation	SNP	ENST00000379066.1	37	c.638C>G	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	G	37	6.340281	0.97489	.	.	ENSG00000115825	ENST00000379066;ENST00000234179;ENST00000443187	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-13.1097	18.7091	0.91649	0.0:0.0:1.0:0.0	.	.	.	.	X	213;213;109	.	ENSP00000234179:S213X	S	-	2	0	PRKD3	37370082	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.404000	0.81709	0.655000	0.94253	TCA		0.413	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813	
CFAP221	200373	broad.mit.edu	37	2	120369295	120369295	+	Missense_Mutation	SNP	C	C	T	rs149304410		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr2:120369295C>T	ENST00000413369.3	+	13	1375	c.1288C>T	c.(1288-1290)Cgg>Tgg	p.R430W	PCDP1_ENST00000597189.1_3'UTR|PCDP1_ENST00000602047.1_Missense_Mutation_p.R144W	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					TAGCCATAAACGGGTTGTTCG	0.333													C|||	1	0.000199681	0.0	0.0	5008	,	,		16341	0.0		0.0	False		,,,				2504	0.001					uc002tmb.2																			0					0						c.(430-432)CGG>TGG		primary ciliary dyskinesia protein 1		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	79.0	80.0	79.0		430	3.5	0.2	2	dbSNP_134	79	0,8600		0,0,4300	no	missense	PCDP1	NM_001029996.3	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	144/555	120369295	1,13005	2203	4300	6503	SO:0001583	missense	200373					cilium	calmodulin binding	g.chr2:120369295C>T																												ENST00000413369.3:c.1288C>T	2.37:g.120369295C>T	ENSP00000393222:p.Arg430Trp					PCDP1_uc010yyq.1_Missense_Mutation_p.R274W	p.R144W	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN			14	1522	+	Colorectal(110;0.196)		430						Missense_Mutation	SNP	ENST00000413369.3	37	c.430C>T	CCDS33282.2	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735630	0.49045	2.27E-4	0.0	ENSG00000163075	ENST00000295220;ENST00000413369	T	0.20332	2.08	4.39	3.5	0.40072	.	0.204669	0.33364	N	0.004985	T	0.39963	0.1098	M	0.61703	1.905	0.25959	N	0.982658	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.12066	-1.0562	10	0.87932	D	0	-18.2702	9.4361	0.38639	0.2121:0.7879:0.0:0.0	.	274;430	Q4G0U5-3;Q4G0U5	.;PCDP1_HUMAN	W	144;430	ENSP00000393222:R430W	ENSP00000295220:R144W	R	+	1	2	AC069154.2	120085765	0.788000	0.28762	0.191000	0.23289	0.020000	0.10135	1.361000	0.34136	1.026000	0.39733	0.650000	0.86243	CGG		0.333	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1		
LRP1B	53353	broad.mit.edu	37	2	141072506	141072506	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr2:141072506A>G	ENST00000389484.3	-	83	13774	c.12803T>C	c.(12802-12804)cTa>cCa	p.L4268P		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4268	EGF-like 18. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATATTTACCTAGAACTGATGG	0.353										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(12802-12804)CTA>CCA		low density lipoprotein-related protein 1B							107.0	104.0	105.0					2																	141072506		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141072506A>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12803T>C	2.37:g.141072506A>G	ENSP00000374135:p.Leu4268Pro	TSP Lung(27;0.18)					p.L4268P	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	83	13775	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4268			Extracellular (Potential).|EGF-like 11.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.12803T>C	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.87|15.87	2.960638|2.960638	0.53400|0.53400	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	D|.	0.92699|.	-3.09|.	5.9|5.9	5.9|5.9	0.94986|0.94986	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.099216|.	0.42172|.	D|.	0.000749|.	T|.	0.59555|.	0.2202|.	L|L	0.37561|0.37561	1.115|1.115	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|.	0.55535|.	-0.8126|.	10|.	0.33141|.	T|.	0.24|.	.|.	16.3317|16.3317	0.83023|0.83023	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	4268|.	Q9NZR2|.	LRP1B_HUMAN|.	P|Q	4268;4206|500	ENSP00000374135:L4268P|.	ENSP00000374135:L4268P|.	L|X	-|-	2|1	0|0	LRP1B|LRP1B	140788976|140788976	1.000000|1.000000	0.71417|0.71417	0.860000|0.860000	0.33809|0.33809	0.135000|0.135000	0.20990|0.20990	6.773000|6.773000	0.75006|0.75006	2.264000|2.264000	0.75181|0.75181	0.533000|0.533000	0.62120|0.62120	CTA|TAG		0.353	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
COBLL1	22837	broad.mit.edu	37	2	165578701	165578701	+	Missense_Mutation	SNP	G	G	A	rs199807543	byFrequency	TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr2:165578701G>A	ENST00000392717.2	-	7	998	c.994C>T	c.(994-996)Cgg>Tgg	p.R332W	COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000375458.2_Missense_Mutation_p.R294W|COBLL1_ENST00000194871.6_Missense_Mutation_p.R360W|COBLL1_ENST00000409184.3_Missense_Mutation_p.R332W|COBLL1_ENST00000342193.4_Missense_Mutation_p.R294W			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	332						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						AGTGGAGCCCGCCTCTTCTTG	0.522													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		15225	0.0		0.0	False		,,,				2504	0.0					uc010zcw.1																			0				ovary(2)|pancreas(1)	3						c.(1078-1080)CGG>TGG		COBL-like 1							70.0	73.0	72.0					2																	165578701		2203	4300	6503	SO:0001583	missense	22837							g.chr2:165578701G>A	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.994C>T	2.37:g.165578701G>A	ENSP00000376478:p.Arg332Trp					COBLL1_uc002ucp.2_Missense_Mutation_p.R294W|COBLL1_uc002ucq.2_Missense_Mutation_p.R294W|COBLL1_uc010zcx.1_Missense_Mutation_p.R340W|COBLL1_uc002ucs.1_RNA|COBLL1_uc002uco.2_Missense_Mutation_p.R63W	p.R360W	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN			9	1202	-			332			KKRRAP 1.		A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37	c.1078C>T		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	21.7	4.194984	0.78902	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	D;D;D;D;D	0.92446	-3.04;-3.04;-3.04;-3.04;-3.04	5.95	4.99	0.66335	Cordon-bleu domain (1);	0.047169	0.85682	D	0.000000	D	0.95981	0.8691	M	0.80982	2.52	0.51767	D	0.999934	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96092	0.9062	10	0.87932	D	0	-2.7328	16.1577	0.81677	0.0:0.0:0.8022:0.1978	.	332;360;332	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	W	294;294;332;332;360	ENSP00000364607:R294W;ENSP00000341360:R294W;ENSP00000387326:R332W;ENSP00000376478:R332W;ENSP00000194871:R360W	ENSP00000194871:R360W	R	-	1	2	COBLL1	165286947	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	2.603000	0.46266	2.826000	0.97356	0.563000	0.77884	CGG		0.522	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900	
SCN1A	6323	broad.mit.edu	37	2	166850847	166850847	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr2:166850847T>C	ENST00000303395.4	-	25	4660	c.4661A>G	c.(4660-4662)aAc>aGc	p.N1554S	SCN1A_ENST00000375405.3_Missense_Mutation_p.N1543S|SCN1A_ENST00000409050.1_Missense_Mutation_p.N1526S|SCN1A_ENST00000423058.2_Missense_Mutation_p.N1554S|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1554					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGTGACCATGTTAAGACAGAT	0.378																																						uc010zcz.1																			0				ovary(6)|skin(6)|large_intestine(1)	13						c.(4627-4629)AAC>AGC		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						142.0	119.0	127.0					2																	166850847		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166850847T>C	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.4661A>G	2.37:g.166850847T>C	ENSP00000303540:p.Asn1554Ser						p.N1543S	NM_006920	NP_008851	P35498	SCN1A_HUMAN			25	4646	-			1554			Helical; Name=S1 of repeat IV; (By similarity).|IV.		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.4628A>G	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.785844	0.90282	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.97455	-4.39;-4.39;-4.39;-4.39	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.99149	0.9706	H	0.98407	4.225	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.99044	1.0825	10	0.56958	D	0.05	.	16.3322	0.83039	0.0:0.0:0.0:1.0	.	1543	P35498-2	.	S	1554;1554;1543;1526	ENSP00000407030:N1554S;ENSP00000303540:N1554S;ENSP00000364554:N1543S;ENSP00000386312:N1526S	ENSP00000303540:N1554S	N	-	2	0	SCN1A	166559093	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.907000	0.87430	2.251000	0.74343	0.528000	0.53228	AAC		0.378	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920	
TTN	7273	broad.mit.edu	37	2	179476875	179476875	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr2:179476875G>C	ENST00000591111.1	-	217	45564	c.45340C>G	c.(45340-45342)Ccc>Gcc	p.P15114A	TTN_ENST00000359218.5_Missense_Mutation_p.P7815A|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P16755A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P14187A|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P7882A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P7690A			Q8WZ42	TITIN_HUMAN	titin	15114	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGGCGTAGGGTGGTCCAGGA	0.418																																						uc010zfg.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(42559-42561)CCC>GCC		titin isoform N2-A							77.0	69.0	71.0					2																	179476875		1889	4102	5991	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179476875G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.45340C>G	2.37:g.179476875G>C	ENSP00000465570:p.Pro15114Ala					uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P7882A|TTN_uc010zfi.1_Missense_Mutation_p.P7815A|TTN_uc010zfj.1_Missense_Mutation_p.P7690A	p.P14187A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		216	42783	-			15114					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.42559C>G		.	.	.	.	.	.	.	.	.	.	G	13.59	2.283727	0.40394	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29	6.17	6.17	0.99709	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.91536	0.7327	M	0.85859	2.78	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.91398	0.5141	9	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	7690;7815;7882;15114	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	14187;7690;7882;7815;7690	ENSP00000343764:P14187A;ENSP00000434586:P7690A;ENSP00000340554:P7882A;ENSP00000352154:P7815A	ENSP00000340554:P7882A	P	-	1	0	TTN	179185120	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.807000	0.99171	2.941000	0.99782	0.655000	0.94253	CCC		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179597777	179597777	+	Silent	SNP	G	G	A	rs72648936		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr2:179597777G>A	ENST00000591111.1	-	53	15399	c.15175C>T	c.(15175-15177)Ctg>Ttg	p.L5059L	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Silent_p.L5376L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.L4132L|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12432	Ig-like 31.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGCAGTCCAGTCTGCAGGTA	0.468																																						uc010zfg.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(12394-12396)CTG>TTG		titin isoform N2-A		G	,,,	0,3876		0,0,1938	67.0	63.0	64.0		,12394,,	0.2	1.0	2	dbSNP_130	64	1,8295		0,1,4147	no	intron,coding-synonymous,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,6085	AA,AG,GG		0.0121,0.0,0.0082	,,,	,4132/33424,,	179597777	1,12171	1938	4148	6086	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179597777G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.15175C>T	2.37:g.179597777G>A						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.L793L	p.L4132L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		52	12618	-			5059					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.12394C>T																																																																																					0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179599243	179599243	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr2:179599243G>A	ENST00000591111.1	-	50	14581	c.14357C>T	c.(14356-14358)cCa>cTa	p.P4786L	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P5103L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P3859L|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12167	Ig-like 28.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTTCAAATGGTCCAGTGCC	0.393																																						uc010zfg.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(11575-11577)CCA>CTA		titin isoform N2-A							87.0	87.0	87.0					2																	179599243		1852	4106	5958	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179599243G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.14357C>T	2.37:g.179599243G>A	ENSP00000465570:p.Pro4786Leu					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P520L	p.P3859L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		49	11800	-			4786					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.11576C>T		.	.	.	.	.	.	.	.	.	.	G	14.26	2.482992	0.44147	.	.	ENSG00000155657	ENST00000342992	T	0.67171	-0.25	5.76	5.76	0.90799	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84334	0.5449	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85736	0.1334	9	0.87932	D	0	.	19.9731	0.97292	0.0:0.0:1.0:0.0	.	4786	Q8WZ42	TITIN_HUMAN	L	3859	ENSP00000343764:P3859L	ENSP00000343764:P3859L	P	-	2	0	TTN	179307488	1.000000	0.71417	0.996000	0.52242	0.901000	0.52897	9.476000	0.97823	2.715000	0.92844	0.563000	0.77884	CCA		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
IHH	3549	broad.mit.edu	37	2	219920562	219920562	+	Silent	SNP	G	G	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr2:219920562G>A	ENST00000295731.6	-	3	602	c.603C>T	c.(601-603)ggC>ggT	p.G201G	MIR3131_ENST00000583592.1_RNA	NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	201					bone resorption (GO:0045453)|camera-type eye photoreceptor cell fate commitment (GO:0060220)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|chondrocyte proliferation (GO:0035988)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint development (GO:0072498)|epithelial cell morphogenesis (GO:0003382)|epithelial cell-cell adhesion (GO:0090136)|head morphogenesis (GO:0060323)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intein-mediated protein splicing (GO:0016539)|maternal process involved in female pregnancy (GO:0060135)|multicellular organism growth (GO:0035264)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of eye pigmentation (GO:0048074)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell differentiation in thymus (GO:0033085)|neuron development (GO:0048666)|osteoblast differentiation (GO:0001649)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of growth (GO:0040008)|response to estradiol (GO:0032355)|retinal pigment epithelium development (GO:0003406)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|somite development (GO:0061053)|vitelline membrane formation (GO:0030704)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|patched binding (GO:0005113)|peptidase activity (GO:0008233)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAAGCAGCCGCCCGTCTTGG	0.672																																						uc002vjo.1																			0				breast(1)	1						c.(601-603)GGC>GGT		Indian hedgehog homolog precursor							17.0	18.0	18.0					2																	219920562		2198	4295	6493	SO:0001819	synonymous_variant	3549				cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity	g.chr2:219920562G>A	L38517	CCDS33380.1	2q33-q35	2013-02-15	2013-02-15		ENSG00000163501	ENSG00000163501			5956	protein-coding gene	gene with protein product		600726	"""Indian hedgehog (Drosophila) homolog"", ""Indian hedgehog homolog (Drosophila)"""			7590746, 14770182	Standard	NM_002181		Approved	HHG2, BDA1	uc002vjo.2	Q14623	OTTHUMG00000154631	ENST00000295731.6:c.603C>T	2.37:g.219920562G>A							p.G201G	NM_002181	NP_002172	Q14623	IHH_HUMAN		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	603	-		Renal(207;0.0915)	201					B9EGM5|O43322|Q8N4B9	Silent	SNP	ENST00000295731.6	37	c.603C>T	CCDS33380.1																																																																																				0.672	IHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336408.2	NM_002181	
ASIC4	55515	broad.mit.edu	37	2	220396799	220396799	+	Silent	SNP	G	G	C			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr2:220396799G>C	ENST00000347842.3	+	3	1199	c.1185G>C	c.(1183-1185)ggG>ggC	p.G395G	ASIC4_ENST00000358078.4_Silent_p.G395G|ASIC4_ENST00000473709.1_3'UTR	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	395					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)										ACCAGCTGGGGTTCGGGGTGT	0.617																																						uc002vma.2																			0				ovary(2)	2						c.(1183-1185)GGG>GGC		amiloride-sensitive cation channel 4 isoform 2							71.0	77.0	75.0					2																	220396799		2203	4300	6503	SO:0001819	synonymous_variant	55515					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	g.chr2:220396799G>C	AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	21263	protein-coding gene	gene with protein product		606715	"""amiloride-sensitive cation channel 4, pituitary"", ""amiloride-sensitive cation channel family member 4, pituitary"""	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.1185G>C	2.37:g.220396799G>C						ACCN4_uc010fwi.1_Silent_p.G395G|ACCN4_uc010fwj.1_Silent_p.G395G|ACCN4_uc002vly.1_Silent_p.G395G|ACCN4_uc002vlz.2_Silent_p.G395G|ACCN4_uc002vmb.2_Silent_p.G49G	p.G395G	NM_182847	NP_878267	Q96FT7	ACCN4_HUMAN		Epithelial(149;5.47e-10)|all cancers(144;9e-08)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.0086)|READ - Rectum adenocarcinoma(5;0.156)	3	1199	+		Renal(207;0.0183)	395			Extracellular (Potential).		Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Silent	SNP	ENST00000347842.3	37	c.1185G>C	CCDS2442.1																																																																																				0.617	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674	
GIGYF2	26058	broad.mit.edu	37	2	233710565	233710565	+	Silent	SNP	T	T	C			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr2:233710565T>C	ENST00000409547.1	+	28	3740	c.3429T>C	c.(3427-3429)ctT>ctC	p.L1143L	GIGYF2_ENST00000409196.3_Silent_p.L1137L|GIGYF2_ENST00000373563.4_Silent_p.L1143L|GIGYF2_ENST00000373566.3_Silent_p.L1165L|GIGYF2_ENST00000409451.3_Silent_p.L1164L|GIGYF2_ENST00000409480.1_Silent_p.L1165L	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1143					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AACAGATGCTTCATGCCCTTA	0.453																																						uc002vti.3																			0				ovary(4)|central_nervous_system(3)	7						c.(3427-3429)CTT>CTC		GRB10 interacting GYF protein 2 isoform b							98.0	94.0	96.0					2																	233710565		2203	4300	6503	SO:0001819	synonymous_variant	26058				cell death		protein binding	g.chr2:233710565T>C	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.3429T>C	2.37:g.233710565T>C						GIGYF2_uc002vtj.3_Silent_p.L1164L|GIGYF2_uc002vtk.3_Silent_p.L1143L|GIGYF2_uc002vth.3_Silent_p.L1137L|GIGYF2_uc010zmk.1_Intron|GIGYF2_uc002vtq.3_Silent_p.L476L	p.L1143L	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	28	3766	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	1143					A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Silent	SNP	ENST00000409547.1	37	c.3429T>C	CCDS33401.1																																																																																				0.453	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146	
UGT1A6	54578	broad.mit.edu	37	2	234602272	234602272	+	Nonsense_Mutation	SNP	C	C	T	rs571650145		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr2:234602272C>T	ENST00000305139.6	+	1	761	c.622C>T	c.(622-624)Cga>Tga	p.R208*	UGT1A6_ENST00000480628.1_Intron|AC114812.8_ENST00000439336.1_RNA|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_5'Flank|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	208					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	TTTTTCCCAACGAGTGGCCAA	0.448													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21928	0.0		0.0	False		,,,				2504	0.0					uc002vuv.3																			0					0						c.(622-624)CGA>TGA		UDP glycosyltransferase 1 family, polypeptide A6							146.0	142.0	144.0					2																	234602272		2203	4300	6503	SO:0001587	stop_gained	54578				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr2:234602272C>T	M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.622C>T	2.37:g.234602272C>T	ENSP00000303174:p.Arg208*					UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Nonsense_Mutation_p.R208*	p.R208*	NM_001072	NP_001063	P19224	UD16_HUMAN		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	1	761	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)	208					A6NKK6|B8K289|Q96TE7	Nonsense_Mutation	SNP	ENST00000305139.6	37	c.622C>T	CCDS2507.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853397	0.91355	.	.	ENSG00000167165	ENST00000305139	.	.	.	5.31	0.957	0.19613	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.892	0.79305	0.4485:0.5515:0.0:0.0	.	.	.	.	X	208	.	ENSP00000303174:R208X	R	+	1	2	UGT1A6	234267011	0.019000	0.18553	0.225000	0.23894	0.563000	0.35712	-0.265000	0.08644	0.331000	0.23511	0.655000	0.94253	CGA		0.448	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1	NM_205862	
XKR7	343702	broad.mit.edu	37	20	30584453	30584453	+	Silent	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr20:30584453C>T	ENST00000562532.2	+	3	1107	c.933C>T	c.(931-933)gcC>gcT	p.A311A		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	311						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TCAGCATTGCCGCCCGCGGCC	0.637																																						uc002wxe.2																			0				ovary(1)|breast(1)|skin(1)	3						c.(931-933)GCC>GCT		XK, Kell blood group complex subunit-related							58.0	58.0	58.0					20																	30584453		2203	4300	6503	SO:0001819	synonymous_variant	343702					integral to membrane		g.chr20:30584453C>T	AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 7"", ""chromosome 20 open reading frame 159"""	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.933C>T	20.37:g.30584453C>T							p.A311A	NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		3	1107	+			311					Q9NUG5	Silent	SNP	ENST00000562532.2	37	c.933C>T	CCDS33459.1																																																																																				0.637	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078597.3	NM_001011718	
KIAA1755	85449	broad.mit.edu	37	20	36869819	36869819	+	Silent	SNP	G	G	C			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr20:36869819G>C	ENST00000279024.4	-	3	985	c.714C>G	c.(712-714)ggC>ggG	p.G238G		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	238										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CATATGTCCTGCCCTTACCCT	0.582																																						uc002xhy.1																			0				ovary(4)|pancreas(1)	5						c.(712-714)GGC>GGG		hypothetical protein LOC85449							135.0	117.0	123.0					20																	36869819		2203	4300	6503	SO:0001819	synonymous_variant	85449							g.chr20:36869819G>C	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.714C>G	20.37:g.36869819G>C						KIAA1755_uc002xhz.1_Silent_p.G238G	p.G238G	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN			3	986	-		Myeloproliferative disorder(115;0.00874)	238					Q9C0A8	Silent	SNP	ENST00000279024.4	37	c.714C>G	CCDS33467.1																																																																																				0.582	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864	
TOX2	84969	broad.mit.edu	37	20	42695486	42695486	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr20:42695486C>G	ENST00000358131.5	+	7	1627	c.1419C>G	c.(1417-1419)atC>atG	p.I473M	TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000341197.4_Missense_Mutation_p.I491M|TOX2_ENST00000423191.2_Missense_Mutation_p.I449M|TOX2_ENST00000372999.1_Missense_Mutation_p.I449M	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	473					female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			AGTGTGGCATCAGCACCTGCA	0.647																																						uc002xlf.3																			0				ovary(1)	1						c.(1417-1419)ATC>ATG		TOX high mobility group box family member 2							117.0	106.0	110.0					20																	42695486		2203	4300	6503	SO:0001583	missense	84969				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr20:42695486C>G	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.1419C>G	20.37:g.42695486C>G	ENSP00000350849:p.Ile473Met					TOX2_uc010ggo.2_Missense_Mutation_p.I491M|TOX2_uc002xle.3_Missense_Mutation_p.I449M|TOX2_uc010ggp.2_Missense_Mutation_p.I449M|TOX2_uc002xlg.2_Missense_Mutation_p.I290M|TOX2_uc010zwk.1_Missense_Mutation_p.I369M	p.I473M	NM_001098798	NP_001092268	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		7	1436	+		Myeloproliferative disorder(115;0.00452)	473					A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Missense_Mutation	SNP	ENST00000358131.5	37	c.1419C>G	CCDS42875.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.3|22.3	4.268951|4.268951	0.80469|0.80469	.|.	.|.	ENSG00000124191|ENSG00000124191	ENST00000341197;ENST00000423191;ENST00000372999;ENST00000358131;ENST00000435864|ENST00000372992;ENST00000413823	T;T;T;T;T|.	0.15952|.	2.68;2.68;2.68;2.38;2.43|.	5.51|5.51	2.19|2.19	0.27852|0.27852	.|.	0.736765|.	0.13192|.	N|.	0.406608|.	T|.	0.33498|.	0.0865|.	L|L	0.27053|0.27053	0.805|0.805	0.23287|0.23287	N|N	0.99797|0.99797	B;P;B;B|.	0.37636|.	0.119;0.603;0.046;0.046|.	B;B;B;B|.	0.30495|.	0.037;0.116;0.033;0.017|.	T|.	0.27739|.	-1.0065|.	10|.	0.72032|0.87932	D|D	0.01|0	.|.	7.453|7.453	0.27250|0.27250	0.0:0.6141:0.0:0.3859|0.0:0.6141:0.0:0.3859	.|.	369;491;473;449|.	B4DQV8;G3XAC7;Q96NM4;E1P5X0|.	.;.;TOX2_HUMAN;.|.	M|X	491;449;449;473;369|98	ENSP00000344724:I491M;ENSP00000390278:I449M;ENSP00000362090:I449M;ENSP00000350849:I473M;ENSP00000396777:I369M|.	ENSP00000344724:I491M|ENSP00000362083:S98X	I|S	+|+	3|2	3|0	TOX2|TOX2	42128900|42128900	1.000000|1.000000	0.71417|0.71417	0.716000|0.716000	0.30569|0.30569	0.881000|0.881000	0.50899|0.50899	1.171000|1.171000	0.31896|0.31896	0.677000|0.677000	0.31305|0.31305	0.655000|0.655000	0.94253|0.94253	ATC|TCA		0.647	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2		
ZSWIM3	140831	broad.mit.edu	37	20	44506781	44506781	+	Silent	SNP	C	C	G			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr20:44506781C>G	ENST00000255152.2	+	2	1793	c.1584C>G	c.(1582-1584)ggC>ggG	p.G528G	ZSWIM3_ENST00000454862.2_Silent_p.G522G	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	528							zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				ACATGGCTGGCTCTTCAGTGG	0.547																																						uc002xqd.2																			0				ovary(2)	2						c.(1582-1584)GGC>GGG		zinc finger, SWIM domain containing 3							86.0	73.0	78.0					20																	44506781		2203	4300	6503	SO:0001819	synonymous_variant	140831						zinc ion binding	g.chr20:44506781C>G	AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"""Zinc fingers, SWIM-type"""	16157	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 174"""		"""chromosome 20 open reading frame 164"""	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.1584C>G	20.37:g.44506781C>G						ZSWIM3_uc010zxg.1_Silent_p.G522G	p.G528G	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN			2	1787	+		Myeloproliferative disorder(115;0.0122)	528					Q9BR13	Silent	SNP	ENST00000255152.2	37	c.1584C>G	CCDS13381.1																																																																																				0.547	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079540.1	NM_080752	
TSHZ2	128553	broad.mit.edu	37	20	51871857	51871857	+	Silent	SNP	C	C	T	rs143642849		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr20:51871857C>T	ENST00000371497.5	+	2	2747	c.1860C>T	c.(1858-1860)caC>caT	p.H620H	TSHZ2_ENST00000329613.6_Silent_p.H617H|TSHZ2_ENST00000603338.2_Silent_p.H617H|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	620					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AAAGTCCCCACGAAGAGGCCT	0.517																																						uc002xwo.2																			0				ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6						c.(1858-1860)CAC>CAT		teashirt zinc finger homeobox 2							78.0	81.0	80.0					20																	51871857		2203	4300	6503	SO:0001819	synonymous_variant	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51871857C>T	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1860C>T	20.37:g.51871857C>T							p.H620H	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	2816	+			620					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Silent	SNP	ENST00000371497.5	37	c.1860C>T	CCDS33490.1																																																																																				0.517	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485	
TIMP3	7078	broad.mit.edu	37	22	33255261	33255261	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr22:33255261A>C	ENST00000266085.6	+	5	834	c.533A>C	c.(532-534)cAg>cCg	p.Q178P	SYN3_ENST00000332840.5_Intron|SYN3_ENST00000358763.2_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3	178	Mediates interaction with EFEMP1.				cellular response to organic substance (GO:0071310)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						CCTGGCTACCAGTCCAAACAC	0.557																																						uc003anb.2																			0				lung(1)	1						c.(532-534)CAG>CCG		tissue inhibitor of metalloproteinase 3							117.0	97.0	104.0					22																	33255261		2203	4300	6503	SO:0001583	missense	7078				negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding	g.chr22:33255261A>C		CCDS13911.1	22q12.3	2013-01-08	2008-07-31		ENSG00000100234	ENSG00000100234			11822	protein-coding gene	gene with protein product		188826	"""tissue inhibitor of metalloproteinase 3 (Sorsby fundus dystrophy, pseudoinflammatory)"""	SFD		8188246, 12652295	Standard	NM_000362		Approved		uc003anb.3	P35625	OTTHUMG00000030784	ENST00000266085.6:c.533A>C	22.37:g.33255261A>C	ENSP00000266085:p.Gln178Pro					SYN3_uc003amx.2_Intron|SYN3_uc003amy.2_Intron|SYN3_uc003amz.2_Intron	p.Q178P	NM_000362	NP_000353	P35625	TIMP3_HUMAN			5	1719	+			178			Mediates interaction with EFEMP1.		B2RBY9|Q5THV4|Q9UC74|Q9UGS2	Missense_Mutation	SNP	ENST00000266085.6	37	c.533A>C	CCDS13911.1	.	.	.	.	.	.	.	.	.	.	A	14.28	2.487002	0.44249	.	.	ENSG00000100234	ENST00000266085;ENST00000538671	D	0.94758	-3.51	4.81	4.81	0.61882	Tissue inhibitor of metalloproteinases-like, OB-fold (1);	0.055092	0.85682	D	0.000000	D	0.96667	0.8912	M	0.74647	2.275	0.80722	D	1	D	0.65815	0.995	D	0.68765	0.96	D	0.97232	0.9885	10	0.87932	D	0	-19.6707	14.357	0.66745	1.0:0.0:0.0:0.0	.	178	P35625	TIMP3_HUMAN	P	178;112	ENSP00000266085:Q178P	ENSP00000266085:Q178P	Q	+	2	0	TIMP3	31585261	1.000000	0.71417	1.000000	0.80357	0.137000	0.21094	9.335000	0.96500	1.776000	0.52262	0.459000	0.35465	CAG		0.557	TIMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075672.2	NM_000362	
NHP2L1	4809	broad.mit.edu	37	22	42071074	42071074	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr22:42071074G>A	ENST00000401959.1	-	4	566	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	NHP2L1_ENST00000355257.3_Missense_Mutation_p.R84C|NHP2L1_ENST00000215956.5_Missense_Mutation_p.R84C|NHP2L1_ENST00000402458.1_Missense_Mutation_p.R88C|NHP2L1_ENST00000463675.1_5'UTR	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	84					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ribosome biogenesis (GO:0042254)|RNA splicing (GO:0008380)	box C/D snoRNP complex (GO:0031428)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						TGCTTGGAGCGCACAAACACG	0.577																																						uc003bat.2																			0					0						c.(250-252)CGC>TGC		NHP2 non-histone chromosome protein 2-like 1							83.0	76.0	79.0					22																	42071074		2203	4300	6503	SO:0001583	missense	4809				nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding	g.chr22:42071074G>A		CCDS14022.1, CCDS33653.1	22q13	2009-01-06	2001-11-28		ENSG00000100138	ENSG00000100138			7819	protein-coding gene	gene with protein product	"""small nuclear ribonucleoprotein 15.5kDa (U4/U6.U5)"""	601304	"""non-histone chromosome protein 2 (S. cerevisiae)-like 1"", ""sperm specific antigen 1"""	SSFA1		8978773	Standard	NM_005008		Approved	SNU13, FA-1, SPAG12, SNRNP15-5, 15.5K	uc003bav.3	P55769	OTTHUMG00000151189	ENST00000401959.1:c.250C>T	22.37:g.42071074G>A	ENSP00000383949:p.Arg84Cys					NHP2L1_uc003bau.2_Missense_Mutation_p.R84C|NHP2L1_uc003bav.2_Missense_Mutation_p.R84C|NHP2L1_uc003baw.2_Missense_Mutation_p.R84C	p.R84C	NM_005008	NP_004999	P55769	NH2L1_HUMAN			3	444	-			84						Missense_Mutation	SNP	ENST00000401959.1	37	c.250C>T	CCDS14022.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089824	0.55968	.	.	ENSG00000100138	ENST00000355257;ENST00000215956;ENST00000401959;ENST00000402458	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.34	4.33	0.51752	Ribosomal protein L7Ae conserved site (1);Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.046546	0.85682	D	0.000000	T	0.49575	0.1565	L	0.58428	1.81	0.80722	D	1	B	0.25667	0.131	B	0.17722	0.019	T	0.53443	-0.8438	10	0.87932	D	0	.	14.2921	0.66286	0.072:0.0:0.928:0.0	.	84	P55769	NH2L1_HUMAN	C	84;84;84;88	ENSP00000347401:R84C;ENSP00000215956:R84C;ENSP00000383949:R84C;ENSP00000383989:R88C	ENSP00000215956:R84C	R	-	1	0	NHP2L1	40401020	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	7.467000	0.80930	1.400000	0.46741	-0.229000	0.12294	CGC		0.577	NHP2L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321682.1	NM_001003796	
OR5K3	403277	broad.mit.edu	37	3	98109856	98109856	+	Missense_Mutation	SNP	C	C	T	rs200376148	byFrequency	TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr3:98109856C>T	ENST00000383695.1	+	1	347	c.347C>T	c.(346-348)gCg>gTg	p.A116V	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						TTTCTTCTGGCGGCAATGGCC	0.453													c|||	2	0.000399361	0.0	0.0	5008	,	,		21426	0.0		0.0	False		,,,				2504	0.002					uc011bgw.1																			0					0						c.(346-348)GCG>GTG		olfactory receptor, family 5, subfamily K,		T	VAL/ALA	0,4406		0,0,2203	177.0	172.0	174.0		347	4.3	1.0	3		174	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR5K3	NM_001005516.1	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	116/322	98109856	1,13005	2203	4300	6503	SO:0001583	missense	403277				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98109856C>T		CCDS33803.1	3q11.2	2013-09-23			ENSG00000206536	ENSG00000206536		"""GPCR / Class A : Olfactory receptors"""	31290	protein-coding gene	gene with protein product							Standard	NM_001005516		Approved		uc011bgw.2	A6NET4	OTTHUMG00000160077	ENST00000383695.1:c.347C>T	3.37:g.98109856C>T	ENSP00000373194:p.Ala116Val						p.A116V	NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN			1	347	+			116			Helical; Name=3; (Potential).			Missense_Mutation	SNP	ENST00000383695.1	37	c.347C>T	CCDS33803.1	.	.	.	.	.	.	.	.	.	.	c	15.37	2.813785	0.50527	0.0	1.16E-4	ENSG00000206536	ENST00000383695	T	0.00375	7.71	5.15	4.28	0.50868	GPCR, rhodopsin-like superfamily (1);	0.153342	0.30356	N	0.009818	T	0.00695	0.0023	L	0.58925	1.835	0.21147	N	0.999779	D	0.69078	0.997	D	0.65443	0.935	T	0.50816	-0.8783	10	0.59425	D	0.04	-24.9727	12.0563	0.53538	0.0:0.9147:0.0:0.0853	.	116	A6NET4	OR5K3_HUMAN	V	116	ENSP00000373194:A116V	ENSP00000373194:A116V	A	+	2	0	OR5K3	99592546	0.000000	0.05858	0.990000	0.47175	0.807000	0.45602	0.215000	0.17562	1.289000	0.44618	-0.175000	0.13238	GCG		0.453	OR5K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359110.1		
RTP1	132112	broad.mit.edu	37	3	186917654	186917654	+	Silent	SNP	G	G	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr3:186917654G>A	ENST00000312295.4	+	2	618	c.588G>A	c.(586-588)gaG>gaA	p.E196E	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	196					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CCTGCCAGGAGGGCATCGTGC	0.692																																						uc003frg.2																			0				ovary(2)|breast(1)	3						c.(586-588)GAG>GAA		receptor transporting protein 1							41.0	39.0	40.0					3																	186917654		2203	4300	6503	SO:0001819	synonymous_variant	132112				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:186917654G>A	BC034744	CCDS3287.2	3q27.3	2014-02-20	2006-11-21		ENSG00000175077	ENSG00000175077		"""Receptor transporter proteins"""	28580	protein-coding gene	gene with protein product	"""receptor transporting protein 1"", ""zinc finger, 3CxxC-type 1"""	609137	"""receptor transporter protein 1"""			16271481, 15550249, 16720576	Standard	NM_153708		Approved	MGC35450, Z3CXXC1	uc003frg.3	P59025	OTTHUMG00000149886	ENST00000312295.4:c.588G>A	3.37:g.186917654G>A							p.E196E	NM_153708	NP_714919	P59025	RTP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	2	618	+	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		196			Cytoplasmic (Potential).			Silent	SNP	ENST00000312295.4	37	c.588G>A	CCDS3287.2																																																																																				0.692	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313731.2	NM_153708	
ADAMTS16	170690	broad.mit.edu	37	5	5262831	5262831	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr5:5262831C>A	ENST00000274181.7	+	18	2862	c.2724C>A	c.(2722-2724)ttC>ttA	p.F908L		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	908	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ATATGTCCTTCTGCAATCCCA	0.498																																						uc003jdl.2																			0				ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(2722-2724)TTC>TTA		ADAM metallopeptidase with thrombospondin type 1							97.0	102.0	100.0					5																	5262831		1987	4147	6134	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5262831C>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2724C>A	5.37:g.5262831C>A	ENSP00000274181:p.Phe908Leu					ADAMTS16_uc003jdk.1_Missense_Mutation_p.F908L	p.F908L	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			18	2862	+			908			TSP type-1 2.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.2724C>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.824214	0.32237	.	.	ENSG00000145536	ENST00000274181	T	0.59502	0.26	5.22	4.23	0.50019	.	0.128309	0.53938	N	0.000053	T	0.42471	0.1204	L	0.53561	1.675	0.41453	D	0.987991	P;B	0.44429	0.835;0.009	B;B	0.32677	0.15;0.018	T	0.34750	-0.9816	10	0.22109	T	0.4	.	8.3997	0.32579	0.0:0.8559:0.0:0.144	.	908;908	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	L	908	ENSP00000274181:F908L	ENSP00000274181:F908L	F	+	3	2	ADAMTS16	5315831	1.000000	0.71417	0.991000	0.47740	0.470000	0.32858	2.394000	0.44450	2.440000	0.82611	0.655000	0.94253	TTC		0.498	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056	
PAPD7	11044	broad.mit.edu	37	5	6737716	6737717	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr5:6737716_6737717delTG	ENST00000230859.6	+	2	189_190	c.60_61delTG	c.(58-63)actgtgfs	p.V22fs		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	252					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGATCGAAACTGTGGTGAAAGA	0.436																																					NSCLC(7;212 333 5667 23379 46547)	uc003jdx.1																			0				ovary(1)	1						c.(58-63)ACTGTGfs		DNA polymerase sigma																																				SO:0001589	frameshift_variant	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6737716_6737717delTG	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.60_61delTG	5.37:g.6737718_6737719delTG	ENSP00000230859:p.Val22fs					PAPD7_uc011cmn.1_Frame_Shift_Del_p.T11fs	p.T20fs	NM_006999	NP_008930	Q5XG87	PAPD7_HUMAN			2	189_190	+			20_21					A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Frame_Shift_Del	DEL	ENST00000230859.6	37	c.60_61delTG	CCDS3871.1																																																																																				0.436	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999	
NIPBL	25836	broad.mit.edu	37	5	37051937	37051937	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr5:37051937delG	ENST00000282516.8	+	41	7510	c.7011delG	c.(7009-7011)aagfs	p.K2337fs	NIPBL_ENST00000448238.2_Frame_Shift_Del_p.K2337fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2337					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TGCGGAACAAGGCTGATCAGC	0.318																																						uc003jkl.3																			0				ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9						c.(7009-7011)AAGfs		delangin isoform A							84.0	89.0	87.0					5																	37051937		2203	4300	6503	SO:0001589	frameshift_variant	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37051937delG	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.7011delG	5.37:g.37051937delG	ENSP00000282516:p.Lys2337fs					NIPBL_uc003jkk.3_Frame_Shift_Del_p.K2337fs|NIPBL_uc003jkn.2_Frame_Shift_Del_p.K30fs	p.K2337fs	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		41	7510	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2337			HEAT 5.		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Frame_Shift_Del	DEL	ENST00000282516.8	37	c.7011delG	CCDS3920.1																																																																																				0.318	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384	
HCN1	348980	broad.mit.edu	37	5	45462085	45462085	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr5:45462085C>G	ENST00000303230.4	-	3	931	c.874G>C	c.(874-876)Gcc>Ccc	p.A292P		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	292					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ACTGCACTGGCGAGATCATAT	0.378																																						uc003jok.2																			0				ovary(1)	1						c.(874-876)GCC>CCC		hyperpolarization activated cyclic							65.0	64.0	65.0					5																	45462085		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45462085C>G	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.874G>C	5.37:g.45462085C>G	ENSP00000307342:p.Ala292Pro						p.A292P	NM_021072	NP_066550	O60741	HCN1_HUMAN			3	899	-			292			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.874G>C	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	35	5.513013	0.96402	.	.	ENSG00000164588	ENST00000303230	D	0.98567	-5.0	5.73	5.73	0.89815	Ion transport (1);	0.000000	0.64402	D	0.000005	D	0.98264	0.9425	M	0.80508	2.5	0.80722	D	1	P	0.42735	0.788	P	0.45946	0.498	D	0.99525	1.0959	10	0.87932	D	0	.	19.8983	0.96975	0.0:1.0:0.0:0.0	.	292	O60741	HCN1_HUMAN	P	292	ENSP00000307342:A292P	ENSP00000307342:A292P	A	-	1	0	HCN1	45497842	1.000000	0.71417	0.969000	0.41365	0.978000	0.69477	7.809000	0.86057	2.718000	0.92993	0.650000	0.86243	GCC		0.378	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072	
PCDHB4	56131	broad.mit.edu	37	5	140502131	140502131	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr5:140502131A>T	ENST00000194152.1	+	1	551	c.551A>T	c.(550-552)cAt>cTt	p.H184L	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	184	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCGAAATCATAGTGAGGGC	0.478																																						uc003lip.1																			0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(550-552)CAT>CTT		protocadherin beta 4 precursor							71.0	69.0	69.0					5																	140502131		2203	4300	6503	SO:0001583	missense	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140502131A>T	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.551A>T	5.37:g.140502131A>T	ENSP00000194152:p.His184Leu						p.H184L	NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	551	+			184			Cadherin 2.|Extracellular (Potential).		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.551A>T	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	A	9.313	1.056113	0.19907	.	.	ENSG00000081818	ENST00000194152	T	0.18174	2.23	4.56	2.23	0.28157	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.08891	0.0220	N	0.10837	0.055	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.32428	-0.9907	9	0.32370	T	0.25	.	7.9908	0.30239	0.7604:0.0:0.2396:0.0	.	184	Q9Y5E5	PCDB4_HUMAN	L	184	ENSP00000194152:H184L	ENSP00000194152:H184L	H	+	2	0	PCDHB4	140482315	0.000000	0.05858	0.739000	0.30968	0.808000	0.45660	0.403000	0.20982	0.885000	0.36088	0.533000	0.62120	CAT		0.478	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938	
EZR	7430	broad.mit.edu	37	6	159206603	159206603	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr6:159206603C>A	ENST00000367075.3	-	5	373	c.205G>T	c.(205-207)Gag>Tag	p.E69*	EZR_ENST00000476189.1_5'UTR|EZR_ENST00000392177.4_Nonsense_Mutation_p.E37*|EZR_ENST00000337147.7_Nonsense_Mutation_p.E69*	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	69	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TTCCTGACCTCCTGGGCAGAC	0.537			T	ROS1	NSCLC																																	uc003qrt.3				Dom	yes		6	6q25.3	7430		ezrin			E					0				ovary(1)	1						c.(205-207)GAG>TAG		ezrin							49.0	47.0	48.0					6																	159206603		2203	4300	6503	SO:0001587	stop_gained	7430				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding	g.chr6:159206603C>A	AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"""A-kinase anchor proteins"""	12691	protein-coding gene	gene with protein product	"""cytovillin 2"""	123900	"""villin 2 (ezrin)"""	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.205G>T	6.37:g.159206603C>A	ENSP00000356042:p.Glu69*					EZR_uc011efs.1_Nonsense_Mutation_p.E37*|EZR_uc003qru.3_Nonsense_Mutation_p.E69*	p.E69*	NM_003379	NP_003370	P15311	EZRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)	4	420	-		Breast(66;0.000776)|Ovarian(120;0.0303)	69			FERM.		E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Nonsense_Mutation	SNP	ENST00000367075.3	37	c.205G>T	CCDS5258.1	.	.	.	.	.	.	.	.	.	.	C	37	6.001708	0.97189	.	.	ENSG00000092820	ENST00000337147;ENST00000367075;ENST00000392177	.	.	.	4.98	4.98	0.66077	.	0.147672	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.4371	0.90650	0.0:1.0:0.0:0.0	.	.	.	.	X	69;69;37	.	ENSP00000338934:E69X	E	-	1	0	EZR	159126591	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.806000	0.69150	2.579000	0.87056	0.650000	0.86243	GAG		0.537	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042878.1	NM_003379	
VOPP1	81552	broad.mit.edu	37	7	55588786	55588786	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr7:55588786C>T	ENST00000285279.5	-	2	292	c.92G>A	c.(91-93)gGa>gAa	p.G31E	VOPP1_ENST00000545390.1_Missense_Mutation_p.G28E|VOPP1_ENST00000428097.1_5'UTR|VOPP1_ENST00000418904.1_Missense_Mutation_p.G14E|VOPP1_ENST00000471168.1_5'UTR|VOPP1_ENST00000454227.1_5'UTR|VOPP1_ENST00000427700.1_Missense_Mutation_p.G29E|VOPP1_ENST00000428648.1_5'UTR|VOPP1_ENST00000433959.1_Missense_Mutation_p.G22E	NM_001284282.1|NM_030796.3	NP_001271211.1|NP_110423.3	Q96AW1	VOPP1_HUMAN	vesicular, overexpressed in cancer, prosurvival protein 1	31					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|integral component of organelle membrane (GO:0031301)	signal transducer activity (GO:0004871)			endometrium(1)|lung(4)	5						TGGATAGAGTCCTTCGAAATA	0.408																																						uc003tqs.2																			0					0						c.(91-93)GGA>GAA		EGFR-coamplified and overexpressed protein							75.0	76.0	76.0					7																	55588786		1890	4116	6006	SO:0001583	missense	81552				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic vesicle membrane|endosome|integral to organelle membrane	signal transducer activity	g.chr7:55588786C>T		CCDS47588.1, CCDS64654.1, CCDS64656.1	7p11.2	2010-06-22			ENSG00000154978	ENSG00000154978			34518	protein-coding gene	gene with protein product	"""Glioblastoma-amplified secreted protein"", ""EGFR-coamplified and overexpressed protein"""	611915				15735698	Standard	NM_030796		Approved	ECop, GASP, FLJ20532, DKFZp564K0822	uc003tqs.3	Q96AW1	OTTHUMG00000156124	ENST00000285279.5:c.92G>A	7.37:g.55588786C>T	ENSP00000285279:p.Gly31Glu					VOPP1_uc003tqq.2_Missense_Mutation_p.G22E|VOPP1_uc010kzh.2_Missense_Mutation_p.G28E|VOPP1_uc010kzi.2_Missense_Mutation_p.G14E|VOPP1_uc011kcr.1_5'UTR	p.G31E	NM_030796	NP_110423	Q96AW1	VOPP1_HUMAN			2	275	-			31			Extracellular (Potential).		B0AZU1|B2RAT4|B3KS72|C9JWR3|Q6FIE3|Q8NBN8|Q96RE5|Q9H0W4	Missense_Mutation	SNP	ENST00000285279.5	37	c.92G>A	CCDS47588.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226883	0.79576	.	.	ENSG00000154978	ENST00000285279;ENST00000433959;ENST00000545390;ENST00000418904;ENST00000427700	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	T	0.77075	0.4077	M	0.64997	1.995	0.48288	D	0.999629	D;D;D;P	0.89917	1.0;1.0;1.0;0.9	D;D;D;P	0.91635	0.998;0.999;0.999;0.466	T	0.77968	-0.2388	8	0.72032	D	0.01	.	15.7034	0.77558	0.0:1.0:0.0:0.0	.	14;28;31;22	C9JWR3;B0AZU1;Q96AW1;B3KS72	.;.;VOPP1_HUMAN;.	E	31;22;28;14;29	.	ENSP00000285279:G31E	G	-	2	0	VOPP1	55556280	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.478000	0.60230	2.779000	0.95612	0.655000	0.94253	GGA		0.408	VOPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343074.1	NM_030796	
ZNF138	7697	broad.mit.edu	37	7	64313507	64313507	+	IGR	SNP	G	G	A	rs377331757		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr7:64313507G>A								ZNF138 (19453 upstream) : ZNF273 (29363 downstream)																							AAAGCCCACCGTGTCTCAAAG	0.458																																						uc003ttj.1																			0					0						c.(118-120)CAC>CAT		SubName: Full=Selenophosphate synthetase 1; SubName: Full=Selenophosphate synthetase 1, isoform CRA_a;																																				SO:0001628	intergenic_variant	168474							g.chr7:64313507G>A																													7.37:g.64313507G>A							p.H40H	NR_002789						1	672	-									Silent	SNP		37	c.120C>T																																																																																				0	0.458								
PCLO	27445	broad.mit.edu	37	7	82390725	82390725	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr7:82390725A>G	ENST00000333891.9	-	23	15429	c.15092T>C	c.(15091-15093)cTc>cCc	p.L5031P		NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTGCATTGGAGAATTTCAAC	0.308																																						uc003uhx.2																			0				ovary(7)	7						c.(15091-15093)CTC>CCC		piccolo isoform 1							123.0	111.0	115.0					7																	82390725		1805	4053	5858	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82390725A>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.15092T>C	7.37:g.82390725A>G	ENSP00000334319:p.Leu5031Pro						p.L5031P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			23	15381	-			4954			C2 2.			Missense_Mutation	SNP	ENST00000333891.9	37	c.15092T>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	A	14.08	2.428666	0.43122	.	.	ENSG00000186472	ENST00000333891	T	0.71461	-0.57	5.33	5.33	0.75918	.	0.000000	0.39274	U	0.001404	D	0.85492	0.5709	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88112	0.2826	10	0.87932	D	0	.	15.3054	0.73987	1.0:0.0:0.0:0.0	.	5031	Q9Y6V0-5	.	P	5031	ENSP00000334319:L5031P	ENSP00000334319:L5031P	L	-	2	0	PCLO	82228661	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.335000	0.96500	1.999000	0.58509	0.528000	0.53228	CTC		0.308	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
PCLO	27445	broad.mit.edu	37	7	82586181	82586181	+	Missense_Mutation	SNP	G	G	A	rs370195239		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr7:82586181G>A	ENST00000333891.9	-	5	4425	c.4088C>T	c.(4087-4089)aCg>aTg	p.T1363M	PCLO_ENST00000423517.2_Missense_Mutation_p.T1363M	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.T1363M(2)|p.T1294M(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGAATATCCCGTGTCGCTCAG	0.428																																						uc003uhx.2																			3	Substitution - Missense(3)		large_intestine(3)	ovary(7)	7						c.(4087-4089)ACG>ATG		piccolo isoform 1							54.0	52.0	53.0					7																	82586181		1856	4089	5945	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82586181G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4088C>T	7.37:g.82586181G>A	ENSP00000334319:p.Thr1363Met					PCLO_uc003uhv.2_Missense_Mutation_p.T1363M	p.T1363M	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	4377	-			1294						Missense_Mutation	SNP	ENST00000333891.9	37	c.4088C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.156894	0.38119	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.23754	1.89;1.9	5.67	5.67	0.87782	.	.	.	.	.	T	0.54870	0.1885	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.56685	-0.7938	9	0.87932	D	0	.	19.7654	0.96337	0.0:0.0:1.0:0.0	.	1363;1363	Q9Y6V0-5;Q9Y6V0-6	.;.	M	1294;1363;1363	ENSP00000334319:T1363M;ENSP00000388393:T1363M	ENSP00000334319:T1363M	T	-	2	0	PCLO	82424117	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.524000	0.81866	2.659000	0.90383	0.655000	0.94253	ACG		0.428	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
TFEC	22797	broad.mit.edu	37	7	115614228	115614228	+	Missense_Mutation	SNP	C	C	T	rs367653280		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr7:115614228C>T	ENST00000265440.7	-	3	443	c.263G>A	c.(262-264)aGa>aAa	p.R88K	TFEC_ENST00000484212.1_Missense_Mutation_p.R178K|TFEC_ENST00000393485.1_Intron|TFEC_ENST00000320239.7_Intron	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	88	Necessary for transcriptional transactivation.				cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			ACTTACTGTTCTTTGCATTAG	0.358																																						uc003vhj.1																			0				large_intestine(1)	1						c.(262-264)AGA>AAA		transcription factor EC isoform a		C	,LYS/ARG	1,4405		0,1,2202	88.0	81.0	83.0		,263	3.9	1.0	7		83	0,8598		0,0,4299	no	intron,missense	TFEC	NM_001018058.2,NM_012252.3	,26	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	,benign	,88/348	115614228	1,13003	2203	4299	6502	SO:0001583	missense	22797					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr7:115614228C>T	D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"""Basic helix-loop-helix proteins"""	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.263G>A	7.37:g.115614228C>T	ENSP00000265440:p.Arg88Lys					TFEC_uc003vhk.1_Intron|TFEC_uc003vhl.3_Intron|TFEC_uc011kmw.1_Missense_Mutation_p.R178K	p.R88K	NM_012252	NP_036384	O14948	TFEC_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		3	447	-			88			Necessary for transcriptional transactivation.		B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Missense_Mutation	SNP	ENST00000265440.7	37	c.263G>A	CCDS5762.1	.	.	.	.	.	.	.	.	.	.	C	5.976	0.363953	0.11296	2.27E-4	0.0	ENSG00000105967	ENST00000265440;ENST00000484212	T;T	0.16743	2.32;2.59	4.77	3.87	0.44632	.	0.463760	0.21403	N	0.075111	T	0.12347	0.0300	L	0.40543	1.245	0.80722	D	1	B;B	0.18741	0.03;0.001	B;B	0.15052	0.012;0.001	T	0.04900	-1.0919	10	0.06099	T	0.92	-2.9826	11.6139	0.51078	0.0:0.9151:0.0:0.0849	.	178;88	B7Z757;O14948	.;TFEC_HUMAN	K	88;178	ENSP00000265440:R88K;ENSP00000417432:R178K	ENSP00000265440:R88K	R	-	2	0	TFEC	115401464	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.302000	0.33459	0.971000	0.38288	0.650000	0.86243	AGA		0.358	TFEC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059839.4	NM_012252	
CNTNAP2	26047	broad.mit.edu	37	7	147259316	147259316	+	Silent	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr7:147259316C>T	ENST00000361727.3	+	12	2380	c.1864C>T	c.(1864-1866)Ctg>Ttg	p.L622L		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	622	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAGCGGACCTCTGGGGCCTCT	0.408										HNSCC(39;0.1)																												uc003weu.1																			0				ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(1864-1866)CTG>TTG		cell recognition molecule Caspr2 precursor							109.0	107.0	107.0					7																	147259316		2203	4300	6503	SO:0001819	synonymous_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147259316C>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1864C>T	7.37:g.147259316C>T		HNSCC(39;0.1)					p.L622L	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		12	2380	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	622			Extracellular (Potential).|Fibrinogen C-terminal.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.1864C>T	CCDS5889.1																																																																																				0.408	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1		
DEFB135	613209	broad.mit.edu	37	8	11842018	11842018	+	Missense_Mutation	SNP	C	C	G	rs368213237		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr8:11842018C>G	ENST00000382208.2	+	2	153	c.153C>G	c.(151-153)aaC>aaG	p.N51K		NM_001033017.2	NP_001028189.2	Q30KP9	DB135_HUMAN	defensin, beta 135	51					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|prostate(1)	4						GTCTAAAAAACGAACAATATC	0.383																																						uc003wuw.1																			0					0						c.(151-153)AAC>AAG		beta-defensin 135 precursor							112.0	110.0	110.0					8																	11842018		1873	4099	5972	SO:0001583	missense	613209				defense response to bacterium	extracellular region		g.chr8:11842018C>G	DQ012025	CCDS43710.1	8p23.1	2009-05-27			ENSG00000205883	ENSG00000205883		"""Defensins, beta"""	32400	protein-coding gene	gene with protein product						16033865	Standard	NM_001033017		Approved		uc003wuw.1	Q30KP9	OTTHUMG00000158719	ENST00000382208.2:c.153C>G	8.37:g.11842018C>G	ENSP00000371643:p.Asn51Lys						p.N51K	NM_001033017	NP_001028189	Q30KP9	DB135_HUMAN			2	153	+			51					Q4QY37	Missense_Mutation	SNP	ENST00000382208.2	37	c.153C>G	CCDS43710.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.333912	0.00227	.	.	ENSG00000205883	ENST00000382208	T	0.12774	2.65	3.34	-6.69	0.01772	.	2.984760	0.01352	N	0.011936	T	0.05502	0.0145	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.32587	-0.9901	9	0.07644	T	0.81	0.031	6.3935	0.21599	0.5751:0.0856:0.0:0.3393	.	51	Q30KP9	DB135_HUMAN	K	51	ENSP00000371643:N51K	ENSP00000371643:N51K	N	+	3	2	DEFB135	11879427	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.156000	0.00146	-2.204000	0.00743	-4.834000	0.00003	AAC		0.383	DEFB135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351888.1	NM_001033017	
SLCO5A1	81796	broad.mit.edu	37	8	70667821	70667821	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr8:70667821A>T	ENST00000260126.4	-	4	1802	c.1096T>A	c.(1096-1098)Ttt>Att	p.F366I	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.F366I|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.F366I	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	366						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GGGAAAGTAAACATTGGGAAT	0.353																																						uc003xyl.2																			0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(1096-1098)TTT>ATT		solute carrier organic anion transporter family,							61.0	63.0	62.0					8																	70667821		2203	4300	6503	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70667821A>T	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.1096T>A	8.37:g.70667821A>T	ENSP00000260126:p.Phe366Ile					SLCO5A1_uc010lzb.2_Missense_Mutation_p.F366I|SLCO5A1_uc011lfa.1_Intron|SLCO5A1_uc003xyk.2_Missense_Mutation_p.F366I|SLCO5A1_uc010lzc.2_Missense_Mutation_p.F366I	p.F366I	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		4	1803	-	Breast(64;0.0654)		366			Helical; Name=6; (Potential).		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.1096T>A	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.866108	0.91511	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.60424	0.19;0.19;0.19	5.29	5.29	0.74685	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.73249	0.3563	M	0.63169	1.94	0.80722	D	1	D;D;D;P	0.89917	0.972;1.0;0.988;0.849	P;D;D;P	0.87578	0.906;0.998;0.914;0.555	T	0.74985	-0.3477	10	0.54805	T	0.06	.	15.3968	0.74801	1.0:0.0:0.0:0.0	.	366;366;366;366	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	I	366	ENSP00000260126:F366I;ENSP00000434422:F366I;ENSP00000431611:F366I	ENSP00000260126:F366I	F	-	1	0	SLCO5A1	70830375	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.047000	0.93823	2.215000	0.71742	0.460000	0.39030	TTT		0.353	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958	
KCNB2	9312	broad.mit.edu	37	8	73848476	73848476	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr8:73848476G>A	ENST00000523207.1	+	3	1474	c.886G>A	c.(886-888)Gtg>Atg	p.V296M		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	296					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.V296L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	GTTCCAAAACGTGAGGCGCGT	0.527																																						uc003xzb.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7						c.(886-888)GTG>ATG		potassium voltage-gated channel, Shab-related							89.0	87.0	88.0					8																	73848476		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73848476G>A	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.886G>A	8.37:g.73848476G>A	ENSP00000430846:p.Val296Met						p.V296M	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	1474	+	Breast(64;0.137)		296					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.886G>A	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	31	5.089106	0.94100	.	.	ENSG00000182674	ENST00000523207	D	0.98493	-4.96	5.74	5.74	0.90152	Ion transport (1);	0.000000	0.41097	D	0.000947	D	0.97015	0.9025	L	0.31578	0.945	0.80722	D	1	P	0.52061	0.95	P	0.48921	0.595	D	0.97140	0.9824	10	0.51188	T	0.08	.	19.91	0.97023	0.0:0.0:1.0:0.0	.	296	Q92953	KCNB2_HUMAN	M	296	ENSP00000430846:V296M	ENSP00000430846:V296M	V	+	1	0	KCNB2	74011030	1.000000	0.71417	0.833000	0.33012	0.992000	0.81027	9.869000	0.99810	2.702000	0.92279	0.655000	0.94253	GTG		0.527	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770	
COL22A1	169044	broad.mit.edu	37	8	139890128	139890128	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr8:139890128C>T	ENST00000303045.6	-	3	969	c.523G>A	c.(523-525)Gtg>Atg	p.V175M	COL22A1_ENST00000435777.1_Missense_Mutation_p.V175M	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	175	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.V175M(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCCACGCCCACGGCAAAGATG	0.667										HNSCC(7;0.00092)																												uc003yvd.2																			1	Substitution - Missense(1)		endometrium(1)	ovary(11)|pancreas(1)|skin(1)	13						c.(523-525)GTG>ATG		collagen, type XXII, alpha 1							19.0	20.0	20.0					8																	139890128		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139890128C>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.523G>A	8.37:g.139890128C>T	ENSP00000303153:p.Val175Met	HNSCC(7;0.00092)					p.V175M	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		3	970	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		175			VWFA.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.523G>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601359	0.87055	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.87029	-2.2;-2.2	5.3	5.3	0.74995	von Willebrand factor, type A (3);	0.000000	0.45126	D	0.000398	D	0.95354	0.8492	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96442	0.9327	9	.	.	.	.	17.9372	0.89015	0.0:1.0:0.0:0.0	.	175	Q8NFW1	COMA1_HUMAN	M	175	ENSP00000303153:V175M;ENSP00000387655:V175M	.	V	-	1	0	COL22A1	139959310	1.000000	0.71417	0.979000	0.43373	0.549000	0.35272	5.650000	0.67944	2.446000	0.82766	0.655000	0.94253	GTG		0.667	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	
PRPS2	5634	broad.mit.edu	37	X	12817486	12817486	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chrX:12817486G>A	ENST00000380668.5	+	2	411	c.283G>A	c.(283-285)Gcc>Acc	p.A95T	PRPS2_ENST00000398491.2_Missense_Mutation_p.A95T|PRPS2_ENST00000489404.1_Missense_Mutation_p.A95T	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	95					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|AMP biosynthetic process (GO:0006167)|nucleobase-containing compound metabolic process (GO:0006139)|organ regeneration (GO:0031100)	extracellular vesicular exosome (GO:0070062)|ribose phosphate diphosphokinase complex (GO:0002189)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|carbohydrate binding (GO:0030246)|GDP binding (GO:0019003)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						TTTCCCATACGCCCGACAAGA	0.468																																						uc004cvb.2																			0					0						c.(283-285)GCC>ACC		phosphoribosyl pyrophosphate synthetase 2							129.0	115.0	119.0					X																	12817486		2203	4300	6503	SO:0001583	missense	5634				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chrX:12817486G>A	Y00971	CCDS14150.1, CCDS43918.1	Xp22.2	2012-10-02			ENSG00000101911	ENSG00000101911	2.7.6.1		9465	protein-coding gene	gene with protein product	"""PRS II"", ""ribose-phosphate diphosphokinase 2"""	311860				1962753	Standard	NM_002765		Approved		uc004cva.3	P11908	OTTHUMG00000021139	ENST00000380668.5:c.283G>A	X.37:g.12817486G>A	ENSP00000370043:p.Ala95Thr					PRPS2_uc004cva.2_Missense_Mutation_p.A95T|PRPS2_uc010nec.2_Missense_Mutation_p.A28T	p.A95T	NM_002765	NP_002756	P11908	PRPS2_HUMAN			2	407	+			95					Q0VDH9|Q0VDI0|Q15245|Q2TAK7	Missense_Mutation	SNP	ENST00000380668.5	37	c.283G>A	CCDS14150.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788525	0.90367	.	.	ENSG00000101911	ENST00000380663;ENST00000380668;ENST00000398491;ENST00000489404;ENST00000461630	D;D;D;D;D	0.92647	-3.08;-3.06;-3.06;-3.08;-3.08	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.97623	0.9221	H	0.96943	3.91	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.70935	0.971;0.951	D	0.98720	1.0708	10	0.87932	D	0	-20.9995	19.1045	0.93287	0.0:0.0:1.0:0.0	.	95;95	P11908;P11908-2	PRPS2_HUMAN;.	T	95;95;95;95;5	ENSP00000370038:A95T;ENSP00000370043:A95T;ENSP00000381504:A95T;ENSP00000419380:A95T;ENSP00000418911:A5T	ENSP00000370038:A95T	A	+	1	0	PRPS2	12727407	1.000000	0.71417	0.783000	0.31826	0.551000	0.35334	9.273000	0.95719	2.462000	0.83206	0.513000	0.50165	GCC		0.468	PRPS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055772.2	NM_002765	
PPP1R3F	89801	broad.mit.edu	37	X	49142412	49142412	+	Silent	SNP	C	C	G			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chrX:49142412C>G	ENST00000055335.6	+	4	1276	c.1260C>G	c.(1258-1260)tcC>tcG	p.S420S	PPP1R3F_ENST00000466508.1_Silent_p.S74S|PPP1R3F_ENST00000495799.1_Silent_p.S74S|PPP1R3F_ENST00000438316.1_Silent_p.S91S|PPP1R3F_ENST00000376188.1_Silent_p.S74S	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	420					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					TTCCCCCCTCCTCCCCTCTCT	0.662																																						uc004dnh.1																			0				ovary(2)|skin(1)	3						c.(1258-1260)TCC>TCG		protein phosphatase 1, regulatory (inhibitor)							29.0	27.0	27.0					X																	49142412		2203	4300	6503	SO:0001819	synonymous_variant	89801					integral to membrane		g.chrX:49142412C>G		CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14944	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3F"""			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.1260C>G	X.37:g.49142412C>G						PPP1R3F_uc011mnd.1_Silent_p.S91S|PPP1R3F_uc004dni.2_Silent_p.S74S|PPP1R3F_uc004dnj.1_Silent_p.S74S	p.S420S	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN			4	1276	+	Ovarian(276;0.236)		420			Extracellular (Potential).		A2VDJ8|B3KPW2|E9PCM3	Silent	SNP	ENST00000055335.6	37	c.1260C>G	CCDS35254.1																																																																																				0.662	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215	
AWAT2	158835	broad.mit.edu	37	X	69262197	69262197	+	Silent	SNP	G	G	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chrX:69262197G>A	ENST00000276101.3	-	6	692	c.687C>T	c.(685-687)gaC>gaT	p.D229D		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	229					wax biosynthetic process (GO:0010025)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)|retinol O-fatty-acyltransferase activity (GO:0050252)			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						GATCATAGAGGTCCGTCTCCC	0.502																																					NSCLC(80;1334 1436 9350 24214 26427)	uc004dxt.1																			0					0						c.(685-687)GAC>GAT		wax synthase 2							104.0	87.0	93.0					X																	69262197		2203	4300	6503	SO:0001819	synonymous_variant	158835					endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity	g.chrX:69262197G>A	BC063698	CCDS35320.1	Xq13.1	2009-02-23	2009-02-23	2009-02-23	ENSG00000147160	ENSG00000147160			23251	protein-coding gene	gene with protein product	"""multifunctional O-acyltransferase"""	300925	"""diacylglycerol O-acyltransferase 2-like 4"""	DGAT2L4		14970677, 16106050, 15671038	Standard	NM_001002254		Approved	MFAT	uc004dxt.1	Q6E213	OTTHUMG00000021763	ENST00000276101.3:c.687C>T	X.37:g.69262197G>A							p.D229D	NM_001002254	NP_001002254	Q6E213	AWAT2_HUMAN			6	693	-			229					Q6IEE3|Q6P437	Silent	SNP	ENST00000276101.3	37	c.687C>T	CCDS35320.1																																																																																				0.502	AWAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358738.1	NM_001002254	
KLHL4	56062	broad.mit.edu	37	X	86873003	86873003	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chrX:86873003C>T	ENST00000373119.4	+	4	941	c.796C>T	c.(796-798)Cag>Tag	p.Q266*	KLHL4_ENST00000373114.4_Nonsense_Mutation_p.Q266*	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	266						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GCAGCTGACTCAGGTCATTGA	0.418																																						uc004efb.2																			0				ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(796-798)CAG>TAG		kelch-like 4 isoform 1							98.0	80.0	86.0					X																	86873003		2203	4300	6503	SO:0001587	stop_gained	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86873003C>T	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.796C>T	X.37:g.86873003C>T	ENSP00000362211:p.Gln266*					KLHL4_uc004efa.2_Nonsense_Mutation_p.Q266*	p.Q266*	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN			4	978	+			266					B2RTW2|Q9Y3J5	Nonsense_Mutation	SNP	ENST00000373119.4	37	c.796C>T	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	C	37	6.416994	0.97550	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	.	.	.	4.74	4.74	0.60224	.	0.207411	0.41712	D	0.000832	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	15.9642	0.79952	0.0:1.0:0.0:0.0	.	.	.	.	X	266	.	ENSP00000362206:Q266X	Q	+	1	0	KLHL4	86759659	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	5.460000	0.66691	1.960000	0.56953	0.502000	0.49764	CAG		0.418	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1		
SLC25A53	401612	broad.mit.edu	37	X	103349047	103349047	+	Silent	SNP	C	C	T	rs138837474		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chrX:103349047C>T	ENST00000357421.4	-	2	1074	c.894G>A	c.(892-894)tcG>tcA	p.S298S		NM_001012755.3	NP_001012773.2	Q5H9E4	S2553_HUMAN	solute carrier family 25, member 53	298					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											TCCTGGAGTGCGACTTCCTCT	0.502													C|||	1	0.000264901	0.0008	0.0	3775	,	,		14689	0.0		0.0	False		,,,				2504	0.0					uc004elu.2																			0					0						c.(892-894)TCG>TCA		mitochondrial carrier triple repeat 6		C		3,3832		0,2,1,1630,570	52.0	47.0	49.0		894	-3.5	0.0	X	dbSNP_134	49	1,6727		0,0,1,2428,1871	no	coding-synonymous	MCART6	NM_001012755.3		0,2,2,4058,2441	TT,TC,T,CC,C		0.0149,0.0782,0.0379		298/308	103349047	4,10559	2203	4300	6503	SO:0001819	synonymous_variant	401612				transport	integral to membrane|mitochondrial inner membrane		g.chrX:103349047C>T		CCDS35363.1	Xq22.2	2013-05-22	2012-03-29	2012-03-29	ENSG00000176274	ENSG00000269743		"""Solute carriers"""	31894	protein-coding gene	gene with protein product			"""mitochondrial carrier triple repeat 6"""	MCART6			Standard	NM_001012755		Approved		uc004elu.3	Q5H9E4	OTTHUMG00000022124	ENST00000357421.4:c.894G>A	X.37:g.103349047C>T							p.S298S	NM_001012755	NP_001012773	Q5H9E4	MCAR6_HUMAN			2	1075	-			298			Solcar 3.		B2RTT9	Silent	SNP	ENST00000357421.4	37	c.894G>A	CCDS35363.1																																																																																				0.502	SLC25A53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057761.1	NM_001012755	
KLHL13	90293	broad.mit.edu	37	X	117033178	117033178	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chrX:117033178A>T	ENST00000262820.3	-	7	2570	c.1661T>A	c.(1660-1662)gTc>gAc	p.V554D	KLHL13_ENST00000540167.1_Missense_Mutation_p.V538D|KLHL13_ENST00000539496.1_Missense_Mutation_p.V557D|KLHL13_ENST00000371878.1_Missense_Mutation_p.V503D|KLHL13_ENST00000541812.1_Missense_Mutation_p.V538D|KLHL13_ENST00000371876.1_Missense_Mutation_p.V503D|KLHL13_ENST00000371882.1_Missense_Mutation_p.V503D|KLHL13_ENST00000469946.1_Missense_Mutation_p.V503D|KLHL13_ENST00000545703.1_Missense_Mutation_p.V512D	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	554					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ACAGCTTAGGACATCATCATA	0.463																																						uc004eql.2																			0				kidney(1)|skin(1)	2						c.(1660-1662)GTC>GAC		kelch-like 13							228.0	209.0	216.0					X																	117033178		2203	4300	6503	SO:0001583	missense	90293				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		g.chrX:117033178A>T	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.1661T>A	X.37:g.117033178A>T	ENSP00000262820:p.Val554Asp					KLHL13_uc004eqk.2_Missense_Mutation_p.V503D|KLHL13_uc011mtn.1_Missense_Mutation_p.V394D|KLHL13_uc011mto.1_Missense_Mutation_p.V548D|KLHL13_uc011mtp.1_Missense_Mutation_p.V556D|KLHL13_uc004eqm.2_Missense_Mutation_p.V503D|KLHL13_uc011mtq.1_Missense_Mutation_p.V538D	p.V554D	NM_033495	NP_277030	Q9P2N7	KLH13_HUMAN			7	1723	-			554			Kelch 5.		B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	ENST00000262820.3	37	c.1661T>A	CCDS14571.1	.	.	.	.	.	.	.	.	.	.	A	18.19	3.570003	0.65765	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18	5.25	5.25	0.73442	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.89767	0.6810	M	0.89785	3.06	0.80722	D	1	D;D;D;D	0.89917	0.995;1.0;0.995;0.996	D;D;D;D	0.83275	0.952;0.996;0.965;0.958	D	0.91858	0.5497	10	0.87932	D	0	.	14.2106	0.65762	1.0:0.0:0.0:0.0	.	538;557;548;554	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	D	503;503;503;503;538;538;557;554;512;503	ENSP00000360949:V503D;ENSP00000360943:V503D;ENSP00000360945:V503D;ENSP00000412640:V503D;ENSP00000444450:V538D;ENSP00000441029:V538D;ENSP00000443191:V557D;ENSP00000262820:V554D;ENSP00000440707:V512D;ENSP00000419803:V503D	ENSP00000262820:V554D	V	-	2	0	KLHL13	116917206	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.139000	0.94554	1.931000	0.55961	0.486000	0.48141	GTC		0.463	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495	
THOC2	57187	broad.mit.edu	37	X	122820484	122820484	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chrX:122820484A>G	ENST00000245838.8	-	8	713	c.682T>C	c.(682-684)Ttt>Ctt	p.F228L	THOC2_ENST00000491737.1_Missense_Mutation_p.F113L|THOC2_ENST00000355725.4_Missense_Mutation_p.F228L	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	228					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						AAAGATATAAAGAAGTCATCG	0.368																																						uc004etu.2																			0				ovary(3)	3						c.(682-684)TTT>CTT		THO complex 2							134.0	121.0	125.0					X																	122820484		1859	4088	5947	SO:0001583	missense	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122820484A>G	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.682T>C	X.37:g.122820484A>G	ENSP00000245838:p.Phe228Leu					THOC2_uc011muh.1_Missense_Mutation_p.F149L|THOC2_uc011mui.1_Missense_Mutation_p.F113L	p.F228L	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN			8	714	-			228					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.682T>C	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.962163	0.92791	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737;ENST00000408933	.	.	.	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000005	T	0.77864	0.4194	M	0.73598	2.24	0.80722	D	1	D;D	0.62365	0.991;0.99	P;D	0.67548	0.656;0.952	T	0.78745	-0.2084	9	0.46703	T	0.11	-13.1771	15.3078	0.74008	1.0:0.0:0.0:0.0	.	149;228	B4DKZ6;Q8NI27	.;THOC2_HUMAN	L	228;228;113;149	.	ENSP00000245838:F228L	F	-	1	0	THOC2	122648165	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.339000	0.96797	1.999000	0.58509	0.481000	0.45027	TTT		0.368	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3		
