#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
UBE4B	10277	broad.mit.edu	37	1	10221285	10221285	+	Nonsense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:10221285C>T	ENST00000253251.8	+	22	3591	c.2752C>T	c.(2752-2754)Cga>Tga	p.R918*	UBE4B_ENST00000343090.6_Nonsense_Mutation_p.R1047*|UBE4B_ENST00000377157.3_Nonsense_Mutation_p.R802*|RNU6-828P_ENST00000364876.1_RNA					ubiquitination factor E4B									p.R918*(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GTCTCTGAAGCGAATCCATGA	0.493																																						uc001aqs.3																			1	Substitution - Nonsense(1)		haematopoietic_and_lymphoid_tissue(1)	ovary(2)|skin(2)	4						c.(3139-3141)CGA>TGA		ubiquitination factor E4B isoform 1							100.0	93.0	96.0					1																	10221285		2203	4300	6503	SO:0001587	stop_gained	10277				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	g.chr1:10221285C>T	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.2752C>T	1.37:g.10221285C>T	ENSP00000253251:p.Arg918*					UBE4B_uc001aqr.3_Nonsense_Mutation_p.R918*|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Nonsense_Mutation_p.R502*	p.R1047*	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	23	3852	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1047						Nonsense_Mutation	SNP	ENST00000253251.8	37	c.3139C>T	CCDS110.1	.	.	.	.	.	.	.	.	.	.	C	50	16.086433	0.99854	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.6529	19.209	0.93747	0.0:1.0:0.0:0.0	.	.	.	.	X	918;802;1047	.	ENSP00000253251:R918X	R	+	1	2	UBE4B	10143872	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.914000	0.69964	2.536000	0.85505	0.563000	0.77884	CGA		0.493	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048	
NGF	4803	broad.mit.edu	37	1	115828973	115828973	+	Silent	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:115828973G>A	ENST00000369512.2	-	3	612	c.444C>T	c.(442-444)acC>acT	p.T148T	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	148					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TGTCTGTGGCGGTGGTCTTAT	0.527																																						uc001efu.1																			0				upper_aerodigestive_tract(2)	2						c.(442-444)ACC>ACT		nerve growth factor, beta polypeptide precursor	Clenbuterol(DB01407)						131.0	113.0	119.0					1																	115828973		2203	4300	6503	SO:0001819	synonymous_variant	4803				activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding	g.chr1:115828973G>A		CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"""Endogenous ligands"""	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.444C>T	1.37:g.115828973G>A							p.T148T	NM_002506	NP_002497	P01138	NGF_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	3	613	-	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)	148					A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Silent	SNP	ENST00000369512.2	37	c.444C>T	CCDS882.1																																																																																				0.527	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1	NM_002506	
GJA8	2703	broad.mit.edu	37	1	147380211	147380211	+	Silent	SNP	C	C	T	rs267598000		TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:147380211C>T	ENST00000369235.1	+	1	129	c.129C>T	c.(127-129)ttC>ttT	p.F43F	GJA8_ENST00000240986.4_Silent_p.F43F			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	43					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CCGCAGAGTTCGTGTGGGGGG	0.592																																					Melanoma(76;1255 1795 8195 52096)	uc001epu.1																			0				ovary(2)|large_intestine(2)|breast(1)|skin(1)	6						c.(127-129)TTC>TTT		connexin 50							106.0	92.0	97.0					1																	147380211		2203	4300	6503	SO:0001819	synonymous_variant	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147380211C>T	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.129C>T	1.37:g.147380211C>T							p.F43F	NM_005267	NP_005258	P48165	CXA8_HUMAN			2	192	+	all_hematologic(923;0.0276)		43			Helical; (Potential).		A7L5M5|Q5VVN9|Q9NP25	Silent	SNP	ENST00000369235.1	37	c.129C>T	CCDS30834.1																																																																																				0.592	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267	
RPTN	126638	broad.mit.edu	37	1	152128025	152128028	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:152128025_152128028delTGTC	ENST00000316073.3	-	3	1611_1614	c.1547_1550delGACA	c.(1546-1551)agacaafs	p.RQ516fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	516	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.5																																						uc001ezs.1																			0					0						c.(1546-1551)AGACAAfs		repetin																																				SO:0001589	frameshift_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128025_152128028delTGTC	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1547_1550delGACA	1.37:g.152128033_152128036delTGTC	ENSP00000317895:p.Arg516fs						p.R516fs	NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN			3	1612_1615	-			516_517			Gln-rich.		B7ZBZ3	Frame_Shift_Del	DEL	ENST00000316073.3	37	c.1547_1550delGACA	CCDS41397.1																																																																																				0.500	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312	
FLG	2312	broad.mit.edu	37	1	152278815	152278815	+	Silent	SNP	G	G	A	rs200790612		TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:152278815G>A	ENST00000368799.1	-	3	8582	c.8547C>T	c.(8545-8547)gaC>gaT	p.D2849D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2849	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTGGAGCCGTCTCCTGATT	0.567									Ichthyosis																													uc001ezu.1																			0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(8545-8547)GAC>GAT		filaggrin		G		2,4290	4.2+/-10.8	0,2,2144	403.0	606.0	539.0		8547	-4.7	0.0	1		539	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FLG	NM_002016.1		0,3,6443	AA,AG,GG		0.0116,0.0466,0.0233		2849/4062	152278815	3,12889	2146	4300	6446	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152278815G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8547C>T	1.37:g.152278815G>A							p.D2849D	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	8583	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2849			Ser-rich.|Filaggrin 17.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.8547C>T	CCDS30860.1																																																																																				0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
SPTA1	6708	broad.mit.edu	37	1	158604390	158604390	+	Missense_Mutation	SNP	A	A	C	rs541384970		TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:158604390A>C	ENST00000368147.4	-	39	5688	c.5508T>G	c.(5506-5508)aaT>aaG	p.N1836K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1836			N -> S (in dbSNP:rs16830483).		actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CATTCTTTTCATTGATCCAAG	0.418																																						uc001fst.1																			0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(5506-5508)AAT>AAG		spectrin, alpha, erythrocytic 1							197.0	180.0	186.0					1																	158604390		1957	4139	6096	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158604390A>C	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5508T>G	1.37:g.158604390A>C	ENSP00000357129:p.Asn1836Lys						p.N1836K	NM_003126	NP_003117	P02549	SPTA1_HUMAN			39	5707	-	all_hematologic(112;0.0378)		1836			Spectrin 18.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.5508T>G	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	A	14.31	2.497193	0.44352	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.50001	0.76;0.76	5.64	0.407	0.16371	.	1.056520	0.07576	N	0.919371	T	0.09905	0.0243	N	0.10685	0.025	0.29651	N	0.843989	B	0.30114	0.269	B	0.34301	0.179	T	0.31833	-0.9929	10	0.13108	T	0.6	.	7.8381	0.29382	0.5303:0.3968:0.0729:0.0	.	1836	P02549	SPTA1_HUMAN	K	1836	ENSP00000357130:N1836K;ENSP00000357129:N1836K	ENSP00000357129:N1836K	N	-	3	2	SPTA1	156871014	0.993000	0.37304	0.166000	0.22797	0.952000	0.60782	1.212000	0.32394	-0.084000	0.12595	0.528000	0.53228	AAT		0.418	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
REN	5972	broad.mit.edu	37	1	204129738	204129738	+	Missense_Mutation	SNP	G	G	A	rs191049685		TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:204129738G>A	ENST00000272190.8	-	4	470	c.442C>T	c.(442-444)Cgc>Tgc	p.R148C	REN_ENST00000367195.2_Missense_Mutation_p.R148C	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	148					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GTTGAATAGCGGAGGGTGAGT	0.562													G|||	1	0.000199681	0.0	0.0	5008	,	,		20957	0.001		0.0	False		,,,				2504	0.0					uc001haq.2																			0				skin(3)|central_nervous_system(1)	4						c.(442-444)CGC>TGC		renin preproprotein	Aliskiren(DB01258)|Remikiren(DB00212)						192.0	161.0	172.0					1																	204129738		2203	4300	6503	SO:0001583	missense	5972				angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity	g.chr1:204129738G>A	BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.442C>T	1.37:g.204129738G>A	ENSP00000272190:p.Arg148Cys						p.R148C	NM_000537	NP_000528	P00797	RENI_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		4	486	-	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		148					Q6FI38|Q6T5C2	Missense_Mutation	SNP	ENST00000272190.8	37	c.442C>T	CCDS30981.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	10.98	1.505230	0.26949	.	.	ENSG00000143839	ENST00000367195;ENST00000545733;ENST00000272190	T;T	0.58652	0.32;0.32	4.86	1.69	0.24217	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.650420	0.17447	N	0.173935	T	0.51787	0.1695	M	0.66939	2.045	0.46356	D	0.999001	P	0.45176	0.852	B	0.40329	0.326	T	0.53380	-0.8447	10	0.87932	D	0	.	7.3288	0.26571	0.0826:0.0:0.6215:0.296	.	148	P00797	RENI_HUMAN	C	148;67;148	ENSP00000356163:R148C;ENSP00000272190:R148C	ENSP00000272190:R148C	R	-	1	0	REN	202396361	1.000000	0.71417	0.961000	0.40146	0.009000	0.06853	3.658000	0.54482	0.451000	0.26802	-0.136000	0.14681	CGC		0.562	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087891.1	NM_000537	
RASSF5	83593	broad.mit.edu	37	1	206760184	206760184	+	Silent	SNP	T	T	G			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:206760184T>G	ENST00000355294.4	+	6	1188	c.1131T>G	c.(1129-1131)ctT>ctG	p.L377L	RASSF5_ENST00000367117.3_3'UTR|RASSF5_ENST00000304534.8_Silent_p.L224L|EIF2D_ENST00000472709.2_Intron|RASSF5_ENST00000491368.1_3'UTR	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	377	SARAH. {ECO:0000255|PROSITE- ProRule:PRU00310}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein localization to nucleus (GO:1900180)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TCCCTGAACTTCAGAACTTCC	0.458																																					GBM(162;656 1984 11916 22872 31529)	uc001hed.2																			0				ovary(1)	1						c.(1129-1131)CTT>CTG		Ras association (RalGDS/AF-6) domain family 5							141.0	143.0	143.0					1																	206760184		2203	4300	6503	SO:0001819	synonymous_variant	83593				apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding	g.chr1:206760184T>G	BC004270	CCDS1463.1, CCDS1464.1, CCDS30998.1	1q31	2014-04-10	2008-02-22		ENSG00000136653	ENSG00000266094			17609	protein-coding gene	gene with protein product		607020				11978988, 11965544	Standard	NM_182663		Approved	Maxp1, NORE1, RAPL	uc001hed.3	Q8WWW0	OTTHUMG00000184616	ENST00000355294.4:c.1131T>G	1.37:g.206760184T>G						RASSF5_uc001hec.1_3'UTR|RASSF5_uc001hee.2_3'UTR|RASSF5_uc001hef.2_Silent_p.L224L|RASSF5_uc001heg.1_3'UTR	p.L377L	NM_182663	NP_872604	Q8WWW0	RASF5_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		6	1188	+	Breast(84;0.183)		377			SARAH.		A8K1E6|Q5SY32|Q8WWV9|Q8WXF4|Q9BT99	Silent	SNP	ENST00000355294.4	37	c.1131T>G	CCDS30998.1																																																																																				0.458	RASSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088469.1	NM_031437	
IRF6	3664	broad.mit.edu	37	1	209963984	209963984	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:209963984C>T	ENST00000367021.3	-	7	1088	c.916G>A	c.(916-918)Gtc>Atc	p.V306I	IRF6_ENST00000542854.1_Missense_Mutation_p.V211I|RP3-434O14.8_ENST00000430751.1_RNA	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	306					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TGACCGCTGACCTCCAGGATC	0.532										HNSCC(57;0.16)																												uc001hhq.1																			0				ovary(2)	2						c.(916-918)GTC>ATC		interferon regulatory factor 6							106.0	86.0	93.0					1																	209963984		2203	4300	6503	SO:0001583	missense	3664				cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:209963984C>T	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.916G>A	1.37:g.209963984C>T	ENSP00000355988:p.Val306Ile	HNSCC(57;0.16)				IRF6_uc010psm.1_Missense_Mutation_p.V211I|IRF6_uc009xct.1_Missense_Mutation_p.V306I	p.V306I	NM_006147	NP_006138	O14896	IRF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	7	1179	-			306					B4DLE2|D3DT90|F5GWX8|G0ZTL0	Missense_Mutation	SNP	ENST00000367021.3	37	c.916G>A	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.089518	0.55968	.	.	ENSG00000117595	ENST00000367021;ENST00000542854	D;D	0.94931	-3.56;-3.56	6.17	6.17	0.99709	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.000000	0.85682	D	0.000000	D	0.93612	0.7960	L	0.52573	1.65	0.80722	D	1	B	0.27264	0.173	B	0.34180	0.177	D	0.89548	0.3797	9	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	306	O14896	IRF6_HUMAN	I	306;211	ENSP00000355988:V306I;ENSP00000440532:V211I	.	V	-	1	0	IRF6	208030607	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.468000	0.60162	2.941000	0.99782	0.655000	0.94253	GTC		0.532	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147	
OR2T12	127064	broad.mit.edu	37	1	248458187	248458187	+	Missense_Mutation	SNP	G	G	A	rs200352170		TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:248458187G>A	ENST00000317996.1	-	1	693	c.694C>T	c.(694-696)Cgc>Tgc	p.R232C		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GCCTTCTTGCGGGCTTCTGTA	0.522																																						uc010pzj.1																			0				skin(2)|ovary(1)	3						c.(694-696)CGC>TGC		olfactory receptor, family 2, subfamily T,							100.0	94.0	96.0					1																	248458187		2203	4300	6503	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458187G>A	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.694C>T	1.37:g.248458187G>A	ENSP00000324583:p.Arg232Cys						p.R232C	NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	694	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		232			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000317996.1	37	c.694C>T	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	g	10.81	1.454126	0.26161	.	.	ENSG00000177201	ENST00000317996	T	0.00337	8.05	1.55	0.316	0.15857	GPCR, rhodopsin-like superfamily (1);	0.870947	0.09313	U	0.819284	T	0.00384	0.0012	M	0.85945	2.785	0.09310	N	0.999998	B	0.24368	0.102	B	0.24269	0.052	T	0.31833	-0.9929	10	0.59425	D	0.04	.	7.1649	0.25685	0.0:0.0:0.5344:0.4655	.	232	Q8NG77	O2T12_HUMAN	C	232	ENSP00000324583:R232C	ENSP00000324583:R232C	R	-	1	0	OR2T12	246524810	0.000000	0.05858	0.169000	0.22859	0.670000	0.39368	-0.554000	0.06006	0.645000	0.30675	0.175000	0.17021	CGC		0.522	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692	
ADARB2	105	broad.mit.edu	37	10	1263025	1263025	+	Silent	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr10:1263025G>A	ENST00000381312.1	-	7	1873	c.1548C>T	c.(1546-1548)cgC>cgT	p.R516R	ADARB2_ENST00000469464.1_5'UTR	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	516	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GCAGGTGCCCGCGGAACTTCC	0.657																																						uc009xhq.2																			0				large_intestine(2)|central_nervous_system(1)	3						c.(1546-1548)CGC>CGT		adenosine deaminase, RNA-specific, B2							44.0	40.0	41.0					10																	1263025		2203	4300	6503	SO:0001819	synonymous_variant	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1263025G>A	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1548C>T	10.37:g.1263025G>A							p.R516R	NM_018702	NP_061172	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	7	1922	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	516			A to I editase.		B2RPJ5|Q5VUT6|Q5VW42	Silent	SNP	ENST00000381312.1	37	c.1548C>T	CCDS7058.1																																																																																				0.657	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702	
HPSE2	60495	broad.mit.edu	37	10	100249866	100249866	+	Missense_Mutation	SNP	G	G	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr10:100249866G>T	ENST00000370552.3	-	10	1467	c.1408C>A	c.(1408-1410)Cct>Act	p.P470T	HPSE2_ENST00000370549.1_Missense_Mutation_p.P412T|HPSE2_ENST00000404542.1_Missense_Mutation_p.P358T|HPSE2_ENST00000370546.1_Missense_Mutation_p.P470T	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	470					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		ACTCGGCCAGGCCGTGGCTTC	0.562																																						uc001kpn.1																			0				ovary(1)	1						c.(1408-1410)CCT>ACT		heparanase 2							95.0	94.0	95.0					10																	100249866		2203	4300	6503	SO:0001583	missense	60495				carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity	g.chr10:100249866G>T	AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"""urofacial syndrome"", ""heparanase 2"""	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.1408C>A	10.37:g.100249866G>T	ENSP00000359583:p.Pro470Thr					HPSE2_uc009xwc.1_Missense_Mutation_p.P460T|HPSE2_uc001kpo.1_Missense_Mutation_p.P402T|HPSE2_uc009xwd.1_Missense_Mutation_p.P348T	p.P470T	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN		Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)	10	1468	-			470					Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	ENST00000370552.3	37	c.1408C>A	CCDS7477.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.284558	0.59867	.	.	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000370546;ENST00000404542	T;T;T;T	0.46063	0.88;0.93;1.46;0.94	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.55609	0.1931	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.998;0.996	T	0.48007	-0.9072	10	0.31617	T	0.26	-5.7498	19.6332	0.95719	0.0:0.0:1.0:0.0	.	358;470;412;470	Q8WWQ2-4;Q8WWQ2-2;Q8WWQ2-3;Q8WWQ2	.;.;.;HPSE2_HUMAN	T	470;412;470;358	ENSP00000359583:P470T;ENSP00000359580:P412T;ENSP00000359577:P470T;ENSP00000384384:P358T	ENSP00000359577:P470T	P	-	1	0	HPSE2	100239856	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.359000	0.97115	2.645000	0.89757	0.591000	0.81541	CCT		0.562	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828	
SHOC2	8036	broad.mit.edu	37	10	112696573	112696573	+	Intron	SNP	T	T	C			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr10:112696573T>C	ENST00000369452.4	+	1	111				SHOC2_ENST00000489390.1_Intron|SHOC2_ENST00000265277.5_Intron	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)						fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)	p.H140R(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		GTGAGCCAGGTGCCCCAGATA	0.537																																						uc010qrh.1																			2	Substitution - Missense(2)		prostate(1)|kidney(1)		0						c.(418-420)CAC>CGC		SubName: Full=cDNA FLJ51256, highly similar to 60S ribosomal protein L13a;																																				SO:0001627	intron_variant	644511							g.chr10:112696573T>C	AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"""soc-2 (suppressor of clear, C.elegans) homolog"""			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.-235+17158T>C	10.37:g.112696573T>C						SHOC2_uc001kzl.3_Intron|SHOC2_uc009xxx.2_Intron|SHOC2_uc010qrg.1_Intron	p.H140R	NR_026715						1	441	-								A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Missense_Mutation	SNP	ENST00000369452.4	37	c.419A>G	CCDS7568.1																																																																																				0.537	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050355.1	NM_007373	
TPH1	7166	broad.mit.edu	37	11	18047154	18047154	+	Missense_Mutation	SNP	C	C	T	rs145855109	byFrequency	TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr11:18047154C>T	ENST00000250018.2	-	7	1460	c.898G>A	c.(898-900)Gct>Act	p.A300T	TPH1_ENST00000525406.1_5'Flank|RP1-59M18.2_ENST00000525523.1_RNA|TPH1_ENST00000341556.2_Missense_Mutation_p.A300T	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	300					aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TCCTCTGAAGCGCCAAGAGAA	0.438													C|||	2	0.000399361	0.0	0.0	5008	,	,		16266	0.0		0.0	False		,,,				2504	0.002					uc001mnp.2																			0					0						c.(898-900)GCT>ACT		tryptophan hydroxylase 1	L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	C	THR/ALA	0,4400		0,0,2200	85.0	87.0	86.0		898	5.7	1.0	11	dbSNP_134	86	6,8580	5.0+/-18.6	0,6,4287	yes	missense	TPH1	NM_004179.2	58	0,6,6487	TT,TC,CC		0.0699,0.0,0.0462	possibly-damaging	300/445	18047154	6,12980	2200	4293	6493	SO:0001583	missense	7166				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr11:18047154C>T	X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	1.14.16.4		12008	protein-coding gene	gene with protein product	"""tryptophan 5-monooxygenase"""	191060	"""tryptophan hydroxylase (tryptophan 5-monooxygenase)"""	TPRH, TPH		1463016	Standard	NM_004179		Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.898G>A	11.37:g.18047154C>T	ENSP00000250018:p.Ala300Thr					TPH1_uc009yhe.2_RNA	p.A300T	NM_004179	NP_004170	P17752	TPH1_HUMAN			7	924	-			300					D3DQX6|O95188|O95189|Q16736|Q3KPG8	Missense_Mutation	SNP	ENST00000250018.2	37	c.898G>A	CCDS7829.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904046	0.92035	0.0	6.99E-4	ENSG00000129167	ENST00000250018;ENST00000341556	D;D	0.99688	-6.41;-6.41	5.71	5.71	0.89125	Aromatic amino acid hydroxylase, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.99468	0.9811	M	0.92169	3.28	0.80722	D	1	P	0.43477	0.808	B	0.39379	0.298	D	0.99882	1.1115	10	0.66056	D	0.02	-13.2861	19.8342	0.96648	0.0:1.0:0.0:0.0	.	300	P17752	TPH1_HUMAN	T	300	ENSP00000250018:A300T;ENSP00000343550:A300T	ENSP00000250018:A300T	A	-	1	0	TPH1	18003730	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.773000	0.85462	2.692000	0.91855	0.561000	0.74099	GCT		0.438	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389696.1	NM_004179	
LOC440040	440040	broad.mit.edu	37	11	49598411	49598411	+	RNA	SNP	T	T	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr11:49598411T>A	ENST00000527477.1	+	0	1015																											ATGGTGGACATAGTGAAGAGG	0.433																																						uc010rhy.1																			0					0						c.(523-525)ATA>AAA		SubName: Full=cDNA FLJ60249, highly similar to Metabotropic glutamate receptor 5;																																						440040							g.chr11:49598411T>A																													11.37:g.49598411T>A						LOC440040_uc009ymb.2_Missense_Mutation_p.I175K	p.I175K	NR_027044						2	1002	+									Missense_Mutation	SNP	ENST00000527477.1	37	c.524T>A																																																																																					0.433	RP11-707M1.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000391378.2		
OR5B17	219965	broad.mit.edu	37	11	58126152	58126152	+	Missense_Mutation	SNP	T	T	C			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr11:58126152T>C	ENST00000357377.3	-	1	390	c.391A>G	c.(391-393)Acc>Gcc	p.T131A		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	131						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)				ATGGTGGTGGTATAATGTAGG	0.448																																						uc010rke.1																			0				ovary(2)|skin(1)	3						c.(391-393)ACC>GCC		olfactory receptor, family 5, subfamily B,							124.0	113.0	117.0					11																	58126152		2201	4295	6496	SO:0001583	missense	219965				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58126152T>C	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.391A>G	11.37:g.58126152T>C	ENSP00000349945:p.Thr131Ala						p.T131A	NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN			1	391	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	131			Cytoplasmic (Potential).		Q6IEX1	Missense_Mutation	SNP	ENST00000357377.3	37	c.391A>G	CCDS31548.1	.	.	.	.	.	.	.	.	.	.	t	0.936	-0.711217	0.03230	.	.	ENSG00000197786	ENST00000357377	T	0.00730	5.77	3.6	-2.4	0.06583	GPCR, rhodopsin-like superfamily (1);	0.689313	0.11817	N	0.526644	T	0.00608	0.0020	L	0.28694	0.88	0.09310	N	1	B	0.13594	0.008	B	0.17979	0.02	T	0.46442	-0.9191	10	0.42905	T	0.14	-4.5968	1.1655	0.01814	0.1453:0.2805:0.149:0.4252	.	131	Q8NGF7	OR5BH_HUMAN	A	131	ENSP00000349945:T131A	ENSP00000349945:T131A	T	-	1	0	OR5B17	57882728	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-2.390000	0.01057	-0.742000	0.04790	0.378000	0.23410	ACC		0.448	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394708.2	NM_001005489	
CD6	923	broad.mit.edu	37	11	60786743	60786743	+	Missense_Mutation	SNP	C	C	G			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr11:60786743C>G	ENST00000313421.7	+	13	2146	c.1960C>G	c.(1960-1962)Cct>Gct	p.P654A	CD6_ENST00000344028.5_Missense_Mutation_p.P622A|CD6_ENST00000452451.2_Missense_Mutation_p.P578A|CD6_ENST00000346437.4_Missense_Mutation_p.P581A|CD6_ENST00000352009.5_Missense_Mutation_p.P587A	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	654					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CAGCCCTCAGCCTGACTCCAC	0.657																																					Pancreas(169;904 2017 4767 38890 42505)	uc001nqq.2																			0				pancreas(1)	1						c.(1960-1962)CCT>GCT		CD6 molecule precursor							63.0	53.0	56.0					11																	60786743		2203	4299	6502	SO:0001583	missense	923				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	g.chr11:60786743C>G		CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"""CD molecules"""	1691	protein-coding gene	gene with protein product		186720	"""CD6 antigen"""			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.1960C>G	11.37:g.60786743C>G	ENSP00000323280:p.Pro654Ala					CD6_uc001nqr.2_Missense_Mutation_p.P587A|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Missense_Mutation_p.P578A	p.P654A	NM_006725	NP_006716	P30203	CD6_HUMAN			13	2183	+			654			Cytoplasmic (Potential).		A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Missense_Mutation	SNP	ENST00000313421.7	37	c.1960C>G	CCDS7999.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.489580	0.26686	.	.	ENSG00000013725	ENST00000344028;ENST00000346437;ENST00000313421;ENST00000452451;ENST00000352009	T;T;T;T;T	0.01406	5.04;5.02;5.08;4.93;4.95	4.34	-6.36	0.01969	.	0.939982	0.08790	N	0.893338	T	0.00724	0.0024	N	0.12182	0.205	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.09377	0.004;0.004;0.002	T	0.47736	-0.9094	10	0.29301	T	0.29	.	1.1514	0.01786	0.2051:0.2454:0.3247:0.2247	.	578;587;654	P30203-5;P30203-4;P30203	.;.;CD6_HUMAN	A	622;581;654;578;587	ENSP00000344108:P622A;ENSP00000345566:P581A;ENSP00000323280:P654A;ENSP00000390676:P578A;ENSP00000340628:P587A	ENSP00000323280:P654A	P	+	1	0	CD6	60543319	0.000000	0.05858	0.000000	0.03702	0.589000	0.36550	-1.519000	0.02243	-1.031000	0.03308	0.561000	0.74099	CCT		0.657	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1	NM_006725	
CALCOCO1	57658	broad.mit.edu	37	12	54117525	54117525	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr12:54117525C>T	ENST00000550804.1	-	4	362	c.302G>A	c.(301-303)cGa>cAa	p.R101Q	CALCOCO1_ENST00000547885.1_5'Flank|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.R101Q|CALCOCO1_ENST00000430117.2_Intron|CALCOCO1_ENST00000548263.1_Missense_Mutation_p.R101Q			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	101	N-terminal AD (CTNNB1 binding site). {ECO:0000250}.				intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						GTTCACATATCGGAACTGGTA	0.602																																						uc001sef.2																			0				ovary(1)	1						c.(301-303)CGA>CAA		coiled-coil transcriptional coactivator isoform							50.0	54.0	53.0					12																	54117525		2203	4300	6503	SO:0001583	missense	57658				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr12:54117525C>T	AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"""coiled-coil leucine zipper coactivator 1"", ""inorganic pyrophosphatase activator"""					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.302G>A	12.37:g.54117525C>T	ENSP00000449960:p.Arg101Gln					CALCOCO1_uc010som.1_Intron|CALCOCO1_uc010son.1_5'UTR|CALCOCO1_uc001seh.2_Missense_Mutation_p.R101Q|CALCOCO1_uc009znd.2_Missense_Mutation_p.R101Q|CALCOCO1_uc001seg.2_Intron|CALCOCO1_uc010soo.1_Missense_Mutation_p.R94Q	p.R101Q	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN			4	446	-			101			N-terminal AD (CTNNB1 binding site) (By similarity).		B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Missense_Mutation	SNP	ENST00000550804.1	37	c.302G>A	CCDS8864.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517921	0.85495	.	.	ENSG00000012822	ENST00000262059;ENST00000548263;ENST00000550804;ENST00000549935;ENST00000551900;ENST00000546619;ENST00000547949;ENST00000553154;ENST00000549784;ENST00000549173;ENST00000548177;ENST00000552623;ENST00000549349;ENST00000549688	T;T;T;T;T;T;T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75	4.79	4.79	0.61399	.	0.000000	0.40554	N	0.001080	T	0.22666	0.0547	L	0.39898	1.24	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;P;P;D	0.63957	0.92;0.87;0.818;0.92	T	0.00759	-1.1578	10	0.30854	T	0.27	-10.8278	17.4946	0.87714	0.0:1.0:0.0:0.0	.	94;101;101;101	B4DG60;Q9P1Z2-3;Q9P1Z2-2;Q9P1Z2	.;.;.;CACO1_HUMAN	Q	101;101;101;94;101;101;101;101;101;121;101;101;101;101	ENSP00000262059:R101Q;ENSP00000447647:R101Q;ENSP00000449960:R101Q;ENSP00000450083:R101Q;ENSP00000448621:R101Q;ENSP00000447117:R101Q;ENSP00000449058:R121Q;ENSP00000446820:R101Q;ENSP00000448026:R101Q;ENSP00000450012:R101Q;ENSP00000449796:R101Q	ENSP00000262059:R101Q	R	-	2	0	CALCOCO1	52403792	0.376000	0.25098	0.962000	0.40283	0.996000	0.88848	0.938000	0.28965	2.586000	0.87340	0.655000	0.94253	CGA		0.602	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407233.2	NM_020898	
HOXC11	3227	broad.mit.edu	37	12	54369092	54369092	+	Silent	SNP	C	C	T	rs557731250		TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr12:54369092C>T	ENST00000546378.1	+	2	926	c.810C>T	c.(808-810)aaC>aaT	p.N270N	HOTAIR_ENST00000424518.1_RNA|HOXC11_ENST00000243082.4_Missense_Mutation_p.P272S|HOTAIR_ENST00000455246.1_RNA			O43248	HXC11_HUMAN	homeobox C11	270					anterior/posterior pattern specification (GO:0009952)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|endoderm development (GO:0007492)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			large_intestine(1)|ovary(1)	2						GGATGCTGAACCTGACGGACC	0.478			T	NUP98	AML																																	uc001sem.2				Dom	yes		12	12q13.3	3227	T	homeo box C11			L	NUP98		AML		0				ovary(1)	1						c.(808-810)AAC>AAT		homeobox C11							53.0	60.0	58.0					12																	54369092		2203	4300	6503	SO:0001819	synonymous_variant	3227				endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54369092C>T		CCDS8867.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123388	ENSG00000123388		"""Homeoboxes / ANTP class : HOXL subclass"""	5123	protein-coding gene	gene with protein product		605559	"""homeo box C11"""	HOX3H		1973146, 1358459	Standard	NM_014212		Approved		uc001sem.3	O43248	OTTHUMG00000160011	ENST00000546378.1:c.810C>T	12.37:g.54369092C>T							p.N270N	NM_014212	NP_055027	O43248	HXC11_HUMAN			2	926	+			270			Homeobox.		A8K7D1|Q96DH2	Silent	SNP	ENST00000546378.1	37	c.810C>T	CCDS8867.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.460473	0.26248	.	.	ENSG00000123388	ENST00000243082	T	0.27557	1.66	4.68	3.67	0.42095	.	.	.	.	.	T	0.40743	0.1129	.	.	.	0.35089	D	0.76413	.	.	.	.	.	.	T	0.54754	-0.8246	6	0.87932	D	0	.	8.6791	0.34198	0.0:0.8023:0.0:0.1977	.	.	.	.	S	272	ENSP00000243082:P272S	ENSP00000243082:P272S	P	+	1	0	HOXC11	52655359	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.268000	0.33062	0.923000	0.37045	0.555000	0.69702	CCT		0.478	HOXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358869.2		
OR6C4	341418	broad.mit.edu	37	12	55945591	55945591	+	Missense_Mutation	SNP	A	A	G			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr12:55945591A>G	ENST00000394256.2	+	1	609	c.581A>G	c.(580-582)gAa>gGa	p.E194G	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						AGCCTCTTAGAACTGATGGTC	0.468																																						uc010spp.1																			0					0						c.(580-582)GAA>GGA		olfactory receptor, family 6, subfamily C,							165.0	145.0	152.0					12																	55945591		2203	4300	6503	SO:0001583	missense	341418				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55945591A>G	BK004261	CCDS31827.1	12q14.2	2012-08-09				ENSG00000179626		"""GPCR / Class A : Olfactory receptors"""	19632	protein-coding gene	gene with protein product							Standard	NM_001005494		Approved		uc010spp.2	Q8NGE1	OTTHUMG00000169959	ENST00000394256.2:c.581A>G	12.37:g.55945591A>G	ENSP00000377799:p.Glu194Gly						p.E194G	NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN			1	581	+			194			Extracellular (Potential).		A8MZG7|B2RNN2|Q6IFK1	Missense_Mutation	SNP	ENST00000394256.2	37	c.581A>G	CCDS31827.1	.	.	.	.	.	.	.	.	.	.	A	8.115	0.779621	0.16120	.	.	ENSG00000179626	ENST00000394256	T	0.00258	8.41	4.98	4.98	0.66077	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000175	T	0.00356	0.0011	M	0.82630	2.6	0.09310	N	1	B	0.23540	0.087	B	0.33799	0.17	T	0.24657	-1.0154	10	0.87932	D	0	.	13.8881	0.63721	1.0:0.0:0.0:0.0	.	194	Q8NGE1	OR6C4_HUMAN	G	194	ENSP00000377799:E194G	ENSP00000377799:E194G	E	+	2	0	OR6C4	54231858	0.208000	0.23494	0.046000	0.18839	0.017000	0.09413	2.863000	0.48396	2.208000	0.71279	0.533000	0.62120	GAA		0.468	OR6C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406678.1		
B4GALNT1	2583	broad.mit.edu	37	12	58020574	58020574	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr12:58020574G>A	ENST00000341156.4	-	11	2139	c.1555C>T	c.(1555-1557)Cgg>Tgg	p.R519W	B4GALNT1_ENST00000418555.2_Missense_Mutation_p.R464W	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	519					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			AAGAGCAGCCGGTGTTTGGCC	0.597																																						uc001spg.1																			0					0						c.(1555-1557)CGG>TGG		beta-1,4-N-acetyl-galactosaminyl transferase 1							181.0	149.0	160.0					12																	58020574		2203	4300	6503	SO:0001583	missense	2583				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	g.chr12:58020574G>A	M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	4117	protein-coding gene	gene with protein product	"""GD2 synthase, GM2 synthase"""	601873	"""UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)"", ""UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1"", ""spastic paraplegia 26"""	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.1555C>T	12.37:g.58020574G>A	ENSP00000341562:p.Arg519Trp					B4GALNT1_uc010sru.1_Missense_Mutation_p.R464W	p.R519W	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		11	1987	-	Melanoma(17;0.122)		519			Lumenal (Potential).		B4DE26|Q8N636	Missense_Mutation	SNP	ENST00000341156.4	37	c.1555C>T	CCDS8950.1	.	.	.	.	.	.	.	.	.	.	.	20.6	4.024851	0.75390	.	.	ENSG00000135454	ENST00000341156;ENST00000418555	T;T	0.18502	2.21;2.21	4.6	3.64	0.41730	.	0.360330	0.28555	N	0.014930	T	0.20170	0.0485	L	0.38175	1.15	0.80722	D	1	D;D	0.71674	0.997;0.998	P;P	0.52189	0.543;0.692	T	0.00408	-1.1758	10	0.66056	D	0.02	-0.108	10.0523	0.42223	0.0:0.0:0.659:0.341	.	464;519	B4DE26;Q00973	.;B4GN1_HUMAN	W	519;464	ENSP00000341562:R519W;ENSP00000401601:R464W	ENSP00000341562:R519W	R	-	1	2	B4GALNT1	56306841	0.986000	0.35501	1.000000	0.80357	0.990000	0.78478	1.185000	0.32065	2.577000	0.86979	0.467000	0.42956	CGG		0.597	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	NM_001478	
PHLDA1	22822	broad.mit.edu	37	12	76424413	76424413	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr12:76424413G>A	ENST00000266671.5	-	1	3299	c.1109C>T	c.(1108-1110)cCg>cTg	p.P370L	RP11-290L1.3_ENST00000552367.1_RNA|PHLDA1_ENST00000602540.1_Missense_Mutation_p.P229L|RP11-290L1.2_ENST00000547721.1_RNA			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	370	14 X 2 AA repeats of P-H.				apoptotic process (GO:0006915)|FasL biosynthetic process (GO:0045210)|forebrain neuron differentiation (GO:0021879)|positive regulation of apoptotic process (GO:0043065)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				atgcgggtgcgggtgagggtg	0.652																																						uc001sxu.2																			0					0						c.(1108-1110)CCG>CTG		pleckstrin homology-like domain, family A,							125.0	95.0	105.0					12																	76424413		2200	4299	6499	SO:0001583	missense	22822				apoptosis	cytoplasmic vesicle membrane|nucleolus|plasma membrane	protein binding	g.chr12:76424413G>A	Z50194	CCDS31861.1	12q15	2008-08-05				ENSG00000139289			8933	protein-coding gene	gene with protein product	"""proline-histidine rich protein"""	605335				12384558, 15037619	Standard	NM_007350		Approved	TDAG51, DT1P1B11, PHRIP	uc001sxu.3	Q8WV24		ENST00000266671.5:c.1109C>T	12.37:g.76424413G>A	ENSP00000266671:p.Pro370Leu						p.P370L	NM_007350	NP_031376	Q8WV24	PHLA1_HUMAN			1	1144	-		Colorectal(145;0.09)	370			14 X 2 AA repeats of P-H.		A1A4G9|Q15184|Q2TAN2|Q9NZ17	Missense_Mutation	SNP	ENST00000266671.5	37	c.1109C>T	CCDS31861.1	.	.	.	.	.	.	.	.	.	.	G	0.028	-1.357729	0.01245	.	.	ENSG00000139289	ENST00000266671;ENST00000421361	T	0.66099	-0.19	4.96	4.06	0.47325	.	0.126196	0.30649	N	0.009171	T	0.49525	0.1562	L	0.43923	1.385	0.09310	N	1	P	0.35700	0.516	B	0.25140	0.058	T	0.51608	-0.8684	10	0.87932	D	0	-15.3629	11.9602	0.53005	0.0:0.0:0.8259:0.1741	.	370	Q8WV24	PHLA1_HUMAN	L	370;188	ENSP00000266671:P370L	ENSP00000266671:P370L	P	-	2	0	PHLDA1	74710680	0.259000	0.24043	0.028000	0.17463	0.021000	0.10359	2.596000	0.46205	1.288000	0.44600	0.561000	0.74099	CCG		0.652	PHLDA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405846.2	NM_007350	
ACACB	32	broad.mit.edu	37	12	109665288	109665288	+	Missense_Mutation	SNP	C	C	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr12:109665288C>A	ENST00000338432.7	+	28	4114	c.3995C>A	c.(3994-3996)cCa>cAa	p.P1332Q	ACACB_ENST00000377854.5_Missense_Mutation_p.P1262Q|ACACB_ENST00000377848.3_Missense_Mutation_p.P1332Q			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1332					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TCCTCCCACCCAAACCGGTAT	0.587																																						uc001tob.2																			0				ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(3994-3996)CCA>CAA		acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)						52.0	45.0	47.0					12																	109665288		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109665288C>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.3995C>A	12.37:g.109665288C>A	ENSP00000341044:p.Pro1332Gln					ACACB_uc001toc.2_Missense_Mutation_p.P1332Q|ACACB_uc010sxl.1_5'Flank|ACACB_uc001tod.2_5'Flank|ACACB_uc010sxm.1_5'Flank	p.P1332Q	NM_001093	NP_001084	O00763	ACACB_HUMAN			28	4114	+			1332					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.3995C>A	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821043	0.90873	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027	T;T;T	0.40756	1.02;1.02;1.02	5.38	5.38	0.77491	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	T	0.68035	0.2957	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68341	-0.5434	10	0.45353	T	0.12	.	19.121	0.93364	0.0:1.0:0.0:0.0	.	1332	O00763	ACACB_HUMAN	Q	1332;1332;1262;563	ENSP00000341044:P1332Q;ENSP00000367079:P1332Q;ENSP00000367085:P1262Q	ENSP00000341044:P1332Q	P	+	2	0	ACACB	108149671	1.000000	0.71417	0.974000	0.42286	0.994000	0.84299	7.788000	0.85771	2.679000	0.91253	0.655000	0.94253	CCA		0.587	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093	
HECTD4	283450	broad.mit.edu	37	12	112620944	112620944	+	Missense_Mutation	SNP	C	C	G			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr12:112620944C>G	ENST00000430131.2	-	61	10785	c.9640G>C	c.(9640-9642)Gtg>Ctg	p.V3214L	HECTD4_ENST00000377560.5_Missense_Mutation_p.V3464L|HECTD4_ENST00000550722.1_Missense_Mutation_p.V3490L			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3214					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										ACTACAGACACGGTTAGAATC	0.353																																						uc009zwc.2																			0				ovary(1)|lung(1)	2						c.(9640-9642)GTG>CTG		chromosome 12 open reading frame 51							172.0	166.0	168.0					12																	112620944		1832	4098	5930	SO:0001583	missense	283450							g.chr12:112620944C>G	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.9640G>C	12.37:g.112620944C>G	ENSP00000404379:p.Val3214Leu						p.V3214L	NM_001109662	NP_001103132					55	9658	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.9640G>C		.	.	.	.	.	.	.	.	.	.	C	17.09	3.299364	0.60195	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.53206	0.63;0.64;0.63	5.85	5.85	0.93711	.	.	.	.	.	T	0.36799	0.0980	N	0.14661	0.345	0.54753	D	0.999984	B	0.31040	0.305	B	0.28991	0.097	T	0.30679	-0.9970	9	0.87932	D	0	.	20.1577	0.98120	0.0:1.0:0.0:0.0	.	3214	Q9Y4D8	K0614_HUMAN	L	3464;3214;3490	ENSP00000366783:V3464L;ENSP00000404379:V3214L;ENSP00000449784:V3490L	ENSP00000366783:V3464L	V	-	1	0	C12orf51	111105327	1.000000	0.71417	0.180000	0.23079	0.375000	0.29983	7.153000	0.77428	2.767000	0.95098	0.655000	0.94253	GTG		0.353	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813	
CLYBL	171425	broad.mit.edu	37	13	100425263	100425263	+	Splice_Site	SNP	A	A	C			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr13:100425263A>C	ENST00000376360.1	+	2	275	c.248A>C	c.(247-249)aAg>aCg	p.K83T	CLYBL_ENST00000376354.1_Splice_Site_p.K83T|CLYBL_ENST00000376355.3_Splice_Site_p.K83T|CLYBL_ENST00000444838.2_Splice_Site_p.K83T|CLYBL_ENST00000339105.4_Splice_Site_p.K83T			Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	83						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|metal ion binding (GO:0046872)			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCAAACAAAAAGGTAATGGCA	0.383																																						uc001vok.2																			0					0						c.(247-249)AAG>ACG		citrate lyase beta like precursor							78.0	77.0	78.0					13																	100425263		2203	4300	6503	SO:0001630	splice_region_variant	171425				cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding	g.chr13:100425263A>C	AF428253	CCDS32002.1	13q32.3	2011-04-08			ENSG00000125246	ENSG00000125246			18355	protein-coding gene	gene with protein product		609686					Standard	XM_005254030		Approved	CLB	uc001vok.3	Q8N0X4	OTTHUMG00000017278	ENST00000376360.1:c.249+1A>C	13.37:g.100425263A>C						CLYBL_uc010tix.1_Missense_Mutation_p.K83T|CLYBL_uc010tiy.1_Missense_Mutation_p.K83T	p.K83T	NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN			2	262	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		83					Q5W0F7|Q8TDH8	Missense_Mutation	SNP	ENST00000376360.1	37	c.248A>C	CCDS32002.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.405360	0.83230	.	.	ENSG00000125246	ENST00000376355;ENST00000376360;ENST00000444838;ENST00000376354;ENST00000339105	T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26	5.32	5.32	0.75619	Aldehyde-lyase domain (1);Pyruvate/Phosphoenolpyruvate kinase (2);	0.096565	0.64402	D	0.000002	D	0.83257	0.5215	H	0.96398	3.815	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.79784	0.993;0.978;0.987	D	0.88885	0.3342	10	0.87932	D	0	18.1017	15.2719	0.73708	1.0:0.0:0.0:0.0	.	83;83;83	B4DU60;Q8N0X4-2;Q8N0X4	.;.;CLYBL_HUMAN	T	83	ENSP00000365533:K83T;ENSP00000365538:K83T;ENSP00000404768:K83T;ENSP00000365532:K83T;ENSP00000342991:K83T	ENSP00000342991:K83T	K	+	2	0	CLYBL	99223264	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.473000	0.90410	2.017000	0.59298	0.379000	0.24179	AAG		0.383	CLYBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045611.1		Missense_Mutation
OR11G2	390439	broad.mit.edu	37	14	20665689	20665689	+	Silent	SNP	C	C	G			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr14:20665689C>G	ENST00000357366.3	+	1	195	c.195C>G	c.(193-195)ctC>ctG	p.L65L		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		AGATCCTCCTCTTTGTGCTCT	0.552																																						uc010tlb.1																			0				ovary(1)|skin(1)	2						c.(193-195)CTC>CTG		olfactory receptor, family 11, subfamily G,							93.0	76.0	81.0					14																	20665689		2203	4300	6503	SO:0001819	synonymous_variant	390439				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20665689C>G		CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"""GPCR / Class A : Olfactory receptors"""	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.195C>G	14.37:g.20665689C>G							p.L65L	NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	195	+	all_cancers(95;0.00108)		65			Helical; Name=1; (Potential).		Q6IF09|Q96R33	Silent	SNP	ENST00000357366.3	37	c.195C>G	CCDS32032.1																																																																																				0.552	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1		
ESR2	2100	broad.mit.edu	37	14	64723980	64723980	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr14:64723980C>T	ENST00000341099.4	-	6	1472	c.1055G>A	c.(1054-1056)gGc>gAc	p.G352D	ESR2_ENST00000353772.3_Missense_Mutation_p.G352D|ESR2_ENST00000553796.1_Missense_Mutation_p.G352D|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000357782.2_Missense_Mutation_p.G352D|ESR2_ENST00000358599.5_Missense_Mutation_p.G352D|ESR2_ENST00000554572.1_Missense_Mutation_p.G352D|ESR2_ENST00000555278.1_Missense_Mutation_p.G352D|ESR2_ENST00000557772.1_Missense_Mutation_p.G352D|ESR2_ENST00000542956.1_Missense_Mutation_p.G352D|ESR2_ENST00000267525.6_Intron	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	352	Steroid-binding.				brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	GATGAGCTTGCCGGGGTGGTC	0.488																																						uc001xha.1																			0				central_nervous_system(2)|ovary(1)	3						c.(1054-1056)GGC>GAC		estrogen receptor beta isoform 1	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)						118.0	117.0	117.0					14																	64723980		2203	4300	6503	SO:0001583	missense	2100				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding	g.chr14:64723980C>T	X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"""Nuclear hormone receptors"""	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.1055G>A	14.37:g.64723980C>T	ENSP00000343925:p.Gly352Asp					ESR2_uc001xgu.2_Missense_Mutation_p.G352D|ESR2_uc001xgv.2_Missense_Mutation_p.G352D|ESR2_uc001xgw.2_Intron|ESR2_uc001xgx.2_Missense_Mutation_p.G352D|ESR2_uc001xgy.1_Missense_Mutation_p.G352D|ESR2_uc001xgz.1_Missense_Mutation_p.G352D|ESR2_uc010aqb.1_RNA|ESR2_uc010aqc.1_Intron|ESR2_uc010aqd.1_RNA	p.G352D	NM_001437	NP_001428	Q92731	ESR2_HUMAN		all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	6	1523	-			352			Steroid-binding.		A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Missense_Mutation	SNP	ENST00000341099.4	37	c.1055G>A	CCDS9762.1	.	.	.	.	.	.	.	.	.	.	C	33	5.237413	0.95240	.	.	ENSG00000140009	ENST00000556275;ENST00000542956;ENST00000554572;ENST00000353772;ENST00000358599;ENST00000555278;ENST00000553796;ENST00000357782;ENST00000557772;ENST00000341099	D;D;D;D;D;D;D;D;D;D	0.96168	-3.93;-3.93;-3.93;-3.93;-3.93;-3.93;-3.93;-3.93;-3.93;-3.93	5.96	5.96	0.96718	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.96731	0.8933	L	0.39397	1.21	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.997;0.999	D;D;D;D	0.77557	0.983;0.97;0.97;0.99	D	0.97000	0.9728	10	0.87932	D	0	.	20.422	0.99049	0.0:1.0:0.0:0.0	.	352;352;352;352	Q92731;Q92731-6;Q92731-5;F1D8N3	ESR2_HUMAN;.;.;.	D	352	ENSP00000452485:G352D;ENSP00000441792:G352D;ENSP00000450699:G352D;ENSP00000335551:G352D;ENSP00000351412:G352D;ENSP00000450488:G352D;ENSP00000452426:G352D;ENSP00000350427:G352D;ENSP00000451582:G352D;ENSP00000343925:G352D	ENSP00000343925:G352D	G	-	2	0	ESR2	63793733	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	7.747000	0.85070	2.832000	0.97577	0.655000	0.94253	GGC		0.488	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1		
PLEKHH1	57475	broad.mit.edu	37	14	68035891	68035891	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr14:68035891C>T	ENST00000329153.5	+	8	1432	c.1300C>T	c.(1300-1302)Cgg>Tgg	p.R434W		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	434						cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		ATCGGGCATGCGGCTCTCAGA	0.592																																						uc001xjl.1																			0					0						c.(1300-1302)CGG>TGG		pleckstrin homology domain containing, family H							76.0	79.0	78.0					14																	68035891		1950	4151	6101	SO:0001583	missense	57475					cytoskeleton	binding	g.chr14:68035891C>T	AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"""Pleckstrin homology (PH) domain containing"""	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.1300C>T	14.37:g.68035891C>T	ENSP00000330278:p.Arg434Trp					PLEKHH1_uc010tsw.1_Missense_Mutation_p.R2W|PLEKHH1_uc001xjm.1_5'Flank|PLEKHH1_uc001xjn.1_5'Flank	p.R434W	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN		all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)	8	1442	+			434					A6H8X6|Q6PJL4|Q6ZWC7	Missense_Mutation	SNP	ENST00000329153.5	37	c.1300C>T	CCDS45128.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.021824	0.54576	.	.	ENSG00000054690	ENST00000329153	T	0.22743	1.94	4.45	3.56	0.40772	.	0.357198	0.27901	N	0.017398	T	0.31918	0.0812	M	0.67397	2.05	0.80722	D	1	D	0.65815	0.995	P	0.51701	0.677	T	0.09509	-1.0671	10	0.72032	D	0.01	.	10.3032	0.43665	0.4495:0.5504:0.0:0.0	.	434	Q9ULM0	PKHH1_HUMAN	W	434	ENSP00000330278:R434W	ENSP00000330278:R434W	R	+	1	2	PLEKHH1	67105644	1.000000	0.71417	0.996000	0.52242	0.636000	0.38137	1.006000	0.29847	1.051000	0.40369	0.561000	0.74099	CGG		0.592	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412730.3	XM_031054	
ADAM20	8748	broad.mit.edu	37	14	70989515	70989515	+	Missense_Mutation	SNP	A	A	T	rs113965969		TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr14:70989515A>T	ENST00000256389.3	-	2	2354	c.2110T>A	c.(2110-2112)Tgc>Agc	p.C704S	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	654					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TCATGGTTGCAGTGACAGTGT	0.483																																						uc001xme.2																			0				skin(1)	1						c.(2110-2112)TGC>AGC		ADAM metallopeptidase domain 20 preproprotein							558.0	422.0	468.0					14																	70989515		2203	4300	6503	SO:0001583	missense	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70989515A>T	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.2110T>A	14.37:g.70989515A>T	ENSP00000256389:p.Cys704Ser						p.C704S	NM_003814	NP_003805	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	2355	-			654			EGF-like.|Extracellular (Potential).		Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	37	c.2110T>A	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	A	14.42	2.529489	0.44969	.	.	ENSG00000134007	ENST00000256389	T	0.80304	-1.36	4.56	4.56	0.56223	.	0.000000	0.42420	D	0.000715	D	0.93177	0.7827	H	0.98407	4.225	0.32622	N	0.523214	D	0.89917	1.0	D	0.91635	0.999	D	0.95550	0.8620	10	0.87932	D	0	.	11.7843	0.52032	1.0:0.0:0.0:0.0	.	654	O43506	ADA20_HUMAN	S	704	ENSP00000256389:C704S	ENSP00000256389:C704S	C	-	1	0	ADAM20	70059268	1.000000	0.71417	0.979000	0.43373	0.031000	0.12232	6.891000	0.75639	1.822000	0.53115	0.529000	0.55759	TGC		0.483	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2		
ACOT4	122970	broad.mit.edu	37	14	74058995	74058995	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr14:74058995G>A	ENST00000326303.4	+	1	586	c.332G>A	c.(331-333)gGc>gAc	p.G111D		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	111					acyl-CoA metabolic process (GO:0006637)|dicarboxylic acid catabolic process (GO:0043649)|dicarboxylic acid metabolic process (GO:0043648)|long-chain fatty acid metabolic process (GO:0001676)|saturated monocarboxylic acid metabolic process (GO:0032788)|short-chain fatty acid metabolic process (GO:0046459)|succinyl-CoA metabolic process (GO:0006104)|unsaturated monocarboxylic acid metabolic process (GO:0032789)|very long-chain fatty acid metabolic process (GO:0000038)	peroxisome (GO:0005777)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|succinyl-CoA hydrolase activity (GO:0004778)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GTGCTGGACGGCCACGACCCC	0.682																																						uc001xoo.2																			0					0						c.(331-333)GGC>GAC		acyl-CoA thioesterase 4							18.0	19.0	19.0					14																	74058995		2130	4116	6246	SO:0001583	missense	122970				acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity	g.chr14:74058995G>A	BC031799	CCDS9817.1	14q24.1	2011-02-16			ENSG00000177465	ENSG00000177465		"""Acyl CoA thioesterases"""	19748	protein-coding gene	gene with protein product		614314				16103133, 16940157	Standard	NM_152331		Approved	FLJ31235, PTE-Ib, PTE2B	uc001xoo.3	Q8N9L9	OTTHUMG00000169485	ENST00000326303.4:c.332G>A	14.37:g.74058995G>A	ENSP00000323071:p.Gly111Asp						p.G111D	NM_152331	NP_689544	Q8N9L9	ACOT4_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00331)	1	586	+			111					Q17RF4|Q5BKT6|Q86TX0|Q86TX1|Q96N88	Missense_Mutation	SNP	ENST00000326303.4	37	c.332G>A	CCDS9817.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.912101	0.52439	.	.	ENSG00000177465	ENST00000326303	T	0.70869	-0.52	4.93	4.01	0.46588	Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase (1);	0.111765	0.64402	D	0.000014	T	0.78007	0.4216	M	0.80508	2.5	0.49389	D	0.99978	D	0.54047	0.964	P	0.55112	0.769	T	0.79647	-0.1716	10	0.59425	D	0.04	-18.5432	8.3634	0.32372	0.0836:0.0:0.7608:0.1556	.	111	Q8N9L9	ACOT4_HUMAN	D	111	ENSP00000323071:G111D	ENSP00000323071:G111D	G	+	2	0	ACOT4	73128748	1.000000	0.71417	1.000000	0.80357	0.415000	0.31203	2.045000	0.41250	2.438000	0.82558	0.462000	0.41574	GGC		0.682	ACOT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404298.2	NM_152331	
HERC2	8924	broad.mit.edu	37	15	28514552	28514553	+	Frame_Shift_Ins	INS	-	-	C			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr15:28514552_28514553insC	ENST00000261609.7	-	11	1395_1396	c.1287_1288insG	c.(1285-1290)gggttafs	p.L430fs		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CATCCTATTAACCCCCAACCTA	0.436																																						uc001zbj.2																			0				ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(1285-1290)GGGTTAfs		hect domain and RLD 2																																				SO:0001589	frameshift_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28514552_28514553insC	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.1288dupG	15.37:g.28514557_28514557dupC	ENSP00000261609:p.Leu430fs					HERC2_uc001zbl.1_Frame_Shift_Ins_p.G124fs	p.G429fs	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	11	1393_1394	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	429_430						Frame_Shift_Ins	INS	ENST00000261609.7	37	c.1287_1288insG	CCDS10021.1																																																																																				0.436	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	
RASGRF1	5923	broad.mit.edu	37	15	79296158	79296158	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr15:79296158G>A	ENST00000419573.3	-	16	2757	c.2483C>T	c.(2482-2484)gCg>gTg	p.A828V	RASGRF1_ENST00000558480.2_Missense_Mutation_p.A812V|RASGRF1_ENST00000394745.3_Missense_Mutation_p.A44V|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	828					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTTGCTGAGCGCTGAAGGGTC	0.637																																						uc002beq.2																			0				skin(4)|ovary(1)|central_nervous_system(1)	6						c.(2482-2484)GCG>GTG		Ras protein-specific guanine							49.0	44.0	46.0					15																	79296158		2196	4293	6489	SO:0001583	missense	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79296158G>A	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2483C>T	15.37:g.79296158G>A	ENSP00000405963:p.Ala828Val					RASGRF1_uc002bep.2_Missense_Mutation_p.A812V|RASGRF1_uc010blm.1_Missense_Mutation_p.A737V|RASGRF1_uc002ber.3_Missense_Mutation_p.A812V|RASGRF1_uc010unh.1_Missense_Mutation_p.A223V|RASGRF1_uc002beo.2_Missense_Mutation_p.A44V	p.A828V	NM_002891	NP_002882	Q13972	RGRF1_HUMAN			16	2858	-			830					F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	c.2483C>T	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	G	1.697	-0.502624	0.04261	.	.	ENSG00000058335	ENST00000419573;ENST00000394741;ENST00000394745	T;T	0.59364	0.27;0.58	4.83	-1.06	0.10002	Ras guanine nucleotide exchange factor, domain (1);	1.596910	0.03249	N	0.181613	T	0.41650	0.1168	N	0.24115	0.695	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.001	B;B;B;B;B	0.04013	0.001;0.0;0.0;0.001;0.001	T	0.18366	-1.0339	10	0.28530	T	0.3	.	6.4661	0.21983	0.0816:0.3073:0.5028:0.1083	.	224;828;812;830;812	B7Z6Z6;A8K270;Q8IUU5;Q13972;F8VPA5	.;.;.;RGRF1_HUMAN;.	V	828;812;44	ENSP00000405963:A828V;ENSP00000378228:A44V	ENSP00000378224:A812V	A	-	2	0	RASGRF1	77083213	0.001000	0.12720	0.001000	0.08648	0.010000	0.07245	1.006000	0.29847	0.081000	0.16988	-1.247000	0.01520	GCG		0.637	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891	
PHLPP2	23035	broad.mit.edu	37	16	71689260	71689260	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr16:71689260C>T	ENST00000568954.1	-	17	2846	c.2468G>A	c.(2467-2469)cGa>cAa	p.R823Q	PHLPP2_ENST00000393524.2_Missense_Mutation_p.R756Q|PHLPP2_ENST00000360429.3_Missense_Mutation_p.R823Q|RP11-432I5.6_ENST00000567077.1_RNA|PHLPP2_ENST00000540628.1_Missense_Mutation_p.R33Q|PHLPP2_ENST00000356272.3_Missense_Mutation_p.R823Q|PHLPP2_ENST00000567016.1_Missense_Mutation_p.R858Q			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	823	PP2C-like.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CTCCTCATTTCGGTCTCCATC	0.483																																						uc002fax.2																			0				ovary(1)|central_nervous_system(1)	2						c.(2467-2469)CGA>CAA		PH domain and leucine rich repeat protein							194.0	180.0	185.0					16																	71689260		2198	4300	6498	SO:0001583	missense	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71689260C>T	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.2468G>A	16.37:g.71689260C>T	ENSP00000457991:p.Arg823Gln					PHLPP2_uc002fav.2_RNA|PHLPP2_uc010cgf.2_Missense_Mutation_p.R756Q	p.R823Q	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN			16	2474	-			823			PP2C-like.		A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	c.2468G>A	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.678212	0.88542	.	.	ENSG00000040199	ENST00000540628;ENST00000299971;ENST00000360429;ENST00000356272;ENST00000393524	T;T;T;T	0.09445	2.98;2.98;2.98;2.98	5.68	4.73	0.59995	Protein phosphatase 2C-like (3);	0.121201	0.52532	D	0.000067	T	0.13030	0.0316	L	0.60845	1.875	0.34942	D	0.750384	D;D	0.57571	0.98;0.98	P;P	0.46940	0.477;0.532	T	0.26780	-1.0093	10	0.28530	T	0.3	-9.5965	5.9135	0.19041	0.0:0.6737:0.1724:0.1538	.	756;823	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	Q	33;630;823;823;756	ENSP00000445781:R33Q;ENSP00000353610:R823Q;ENSP00000348611:R823Q;ENSP00000377159:R756Q	ENSP00000299971:R630Q	R	-	2	0	PHLPP2	70246761	0.999000	0.42202	0.882000	0.34594	0.984000	0.73092	3.371000	0.52379	1.394000	0.46624	0.655000	0.94253	CGA		0.483	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020	
CDH15	1013	broad.mit.edu	37	16	89256722	89256722	+	Silent	SNP	G	G	A	rs548832046		TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr16:89256722G>A	ENST00000289746.2	+	8	1115	c.1050G>A	c.(1048-1050)gcG>gcA	p.A350A		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	350	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CGCTGCAGGCGGCTGCCCTTA	0.637													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15492	0.0		0.0	False		,,,				2504	0.0					uc002fmt.2																			0				skin(1)	1						c.(1048-1050)GCG>GCA		cadherin 15 preproprotein							25.0	26.0	26.0					16																	89256722		2195	4297	6492	SO:0001819	synonymous_variant	1013				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	g.chr16:89256722G>A	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"""Cadherins / Major cadherins"""	1754	protein-coding gene	gene with protein product		114019	"""cadherin 15, M-cadherin (myotubule)"""	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.1050G>A	16.37:g.89256722G>A							p.A350A	NM_004933	NP_004924	P55291	CAD15_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0261)	8	1127	+			350			Cadherin 3.|Extracellular (Potential).			Silent	SNP	ENST00000289746.2	37	c.1050G>A	CCDS10976.1																																																																																				0.637	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	NM_004933	
NF1	4763	broad.mit.edu	37	17	29550520	29550543	+	In_Frame_Del	DEL	ACAGAAATTCTCAAGTGGTTGCGG	ACAGAAATTCTCAAGTGGTTGCGG	-	rs587782592		TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr17:29550520_29550543delACAGAAATTCTCAAGTGGTTGCGG	ENST00000358273.4	+	16	2163_2186	c.1780_1803delACAGAAATTCTCAAGTGGTTGCGG	c.(1780-1803)acagaaattctcaagtggttgcggdel	p.TEILKWLR594del	NF1_ENST00000356175.3_In_Frame_Del_p.TEILKWLR594del	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	594					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.W599*(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GCTTAGTAGCACAGAAATTCTCAAGTGGTTGCGGGAAATATTGA	0.312			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		13	Whole gene deletion(8)|Unknown(4)|Substitution - Nonsense(1)	p.?(2)	soft_tissue(8)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	GRCh37	CM000024	NF1	M		c.(1780-1803)ACAGAAATTCTCAAGTGGTTGCGGdel		neurofibromin isoform 1																																				SO:0001651	inframe_deletion	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29550520_29550543delACAGAAATTCTCAAGTGGTTGCGG		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1780_1803delACAGAAATTCTCAAGTGGTTGCGG	17.37:g.29550520_29550543delACAGAAATTCTCAAGTGGTTGCGG	ENSP00000351015:p.Thr594_Arg601del	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_In_Frame_Del_p.TEILKWLR594del|NF1_uc010csn.1_In_Frame_Del_p.TEILKWLR454del|NF1_uc002hgi.1_5'Flank	p.TEILKWLR594del	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	16	2113_2136	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	594_601					O00662|Q14284|Q14930|Q14931|Q9UMK3	In_Frame_Del	DEL	ENST00000358273.4	37	c.1780_1803delACAGAAATTCTCAAGTGGTTGCGG	CCDS42292.1																																																																																				0.312	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
CARD14	79092	broad.mit.edu	37	17	78157817	78157817	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr17:78157817G>A	ENST00000573882.1	+	6	991	c.455G>A	c.(454-456)cGg>cAg	p.R152Q	CARD14_ENST00000344227.2_Missense_Mutation_p.R152Q|CARD14_ENST00000392434.2_5'Flank|CARD14_ENST00000570421.1_Missense_Mutation_p.R152Q			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	152					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTGCTGCGGCGGTGCCAGCAG	0.667																																						uc002jxw.1																			0				ovary(4)|skin(1)	5						c.(454-456)CGG>CAG		caspase recruitment domain protein 14 isoform 1							16.0	18.0	18.0					17																	78157817		2194	4293	6487	SO:0001583	missense	79092				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding	g.chr17:78157817G>A	AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"""psoriasis susceptibility 2"""	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.455G>A	17.37:g.78157817G>A	ENSP00000458715:p.Arg152Gln					CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Missense_Mutation_p.R152Q|CARD14_uc010wud.1_RNA	p.R152Q	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		4	650	+	all_neural(118;0.0952)		152			Potential.		B8QQJ3|Q9BVB5	Missense_Mutation	SNP	ENST00000573882.1	37	c.455G>A	CCDS11768.1	.	.	.	.	.	.	.	.	.	.	G	5.832	0.337756	0.11013	.	.	ENSG00000141527	ENST00000344227	T	0.35236	1.32	3.71	-7.39	0.01402	.	0.476228	0.22380	N	0.060839	T	0.11922	0.0290	N	0.04203	-0.255	0.38406	D	0.945786	B	0.02656	0.0	B	0.01281	0.0	T	0.25950	-1.0117	10	0.15499	T	0.54	-5.0988	11.1566	0.48491	0.601:0.0:0.399:0.0	.	152	Q9BXL6	CAR14_HUMAN	Q	152	ENSP00000344549:R152Q	ENSP00000344549:R152Q	R	+	2	0	CARD14	75772412	0.004000	0.15560	0.000000	0.03702	0.297000	0.27493	0.579000	0.23788	-1.733000	0.01357	-1.057000	0.02308	CGG		0.667	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1		
BAIAP2	10458	broad.mit.edu	37	17	79080620	79080620	+	Silent	SNP	C	C	T	rs375290881		TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr17:79080620C>T	ENST00000321300.6	+	12	1506	c.1413C>T	c.(1411-1413)taC>taT	p.Y471Y	BAIAP2_ENST00000416299.2_Silent_p.Y334Y|BAIAP2_ENST00000392411.3_Silent_p.Y393Y|BAIAP2_ENST00000575245.1_Silent_p.Y504Y|BAIAP2_ENST00000321280.7_Silent_p.Y471Y|BAIAP2_ENST00000575712.1_Silent_p.Y471Y|BAIAP2_ENST00000428708.2_Silent_p.Y471Y|BAIAP2_ENST00000435091.3_Silent_p.Y471Y	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	471					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CCCCCGATTACGGCGCCGCCT	0.697																																						uc002jzg.2																			0					0						c.(1411-1413)TAC>TAT		BAI1-associated protein 2 isoform 2		C	,,,	0,4400		0,0,2200	48.0	46.0	47.0		1413,1413,1413,1413	-0.2	1.0	17		47	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BAIAP2	NM_001144888.1,NM_006340.2,NM_017450.2,NM_017451.2	,,,	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	,,,	471/535,471/521,471/522,471/553	79080620	1,12995	2200	4298	6498	SO:0001819	synonymous_variant	10458				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr17:79080620C>T	AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.1413C>T	17.37:g.79080620C>T						BAIAP2_uc002jyz.3_Silent_p.Y471Y|BAIAP2_uc002jza.2_Silent_p.Y471Y|BAIAP2_uc002jzc.2_Silent_p.Y472Y|BAIAP2_uc002jzb.2_Silent_p.Y228Y|BAIAP2_uc002jzd.2_Silent_p.Y471Y|BAIAP2_uc002jzf.2_Silent_p.Y471Y|BAIAP2_uc002jze.2_Silent_p.Y504Y|BAIAP2_uc010wuh.1_Silent_p.Y393Y|BAIAP2_uc002jzh.2_Silent_p.Y472Y|BAIAP2_uc010wui.1_Silent_p.Y334Y	p.Y471Y	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		12	1521	+	all_neural(118;0.101)		471					O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Silent	SNP	ENST00000321300.6	37	c.1413C>T	CCDS11775.1																																																																																				0.697	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1		
FECH	2235	broad.mit.edu	37	18	55230200	55230200	+	Missense_Mutation	SNP	T	T	C			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr18:55230200T>C	ENST00000262093.5	-	6	762	c.611A>G	c.(610-612)aAt>aGt	p.N204S	FECH_ENST00000382873.3_Missense_Mutation_p.N210S	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase	204					cellular response to dexamethasone stimulus (GO:0071549)|cholesterol metabolic process (GO:0008203)|detection of UV (GO:0009589)|erythrocyte differentiation (GO:0030218)|generation of precursor metabolites and energy (GO:0006091)|heme biosynthetic process (GO:0006783)|iron ion homeostasis (GO:0055072)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|regulation of gene expression (GO:0010468)|regulation of hemoglobin biosynthetic process (GO:0046984)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insecticide (GO:0017085)|response to lead ion (GO:0010288)|response to light stimulus (GO:0009416)|response to methylmercury (GO:0051597)|response to platinum ion (GO:0070541)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle assembly (GO:0034379)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	2 iron, 2 sulfur cluster binding (GO:0051537)|ferrochelatase activity (GO:0004325)|ferrous iron binding (GO:0008198)|heme binding (GO:0020037)|iron-responsive element binding (GO:0030350)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				GTAAATGGCATTTAAGCTGCT	0.408																																						uc002lgq.3																			0				central_nervous_system(1)	1						c.(610-612)AAT>AGT		ferrochelatase isoform b precursor							134.0	100.0	112.0					18																	55230200		2203	4300	6503	SO:0001583	missense	2235				generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding	g.chr18:55230200T>C	D00726	CCDS11964.1, CCDS32836.1	18q21.2-q21.3	2010-05-11	2010-05-11		ENSG00000066926	ENSG00000066926	4.99.1.1		3647	protein-coding gene	gene with protein product	"""protoporphyria"""	612386	"""ferrochelatase (protoporphyria)"""			1838349	Standard	NM_001012515		Approved		uc002lgp.4	P22830	OTTHUMG00000132740	ENST00000262093.5:c.611A>G	18.37:g.55230200T>C	ENSP00000262093:p.Asn204Ser					FECH_uc002lgp.3_Missense_Mutation_p.N210S|FECH_uc002lgr.3_Missense_Mutation_p.N62S	p.N204S	NM_000140	NP_000131	P22830	HEMH_HUMAN			6	728	-		Colorectal(73;0.227)	204					A8KA72|Q8IXN1|Q8NAN0	Missense_Mutation	SNP	ENST00000262093.5	37	c.611A>G	CCDS11964.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.626394	0.87560	.	.	ENSG00000066926	ENST00000262093;ENST00000382873	D;D	0.96967	-4.19;-4.19	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.98340	0.9449	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.99257	1.0889	10	0.66056	D	0.02	-22.6191	15.9494	0.79820	0.0:0.0:0.0:1.0	.	204;210	P22830;P22830-2	HEMH_HUMAN;.	S	204;210	ENSP00000262093:N204S;ENSP00000372326:N210S	ENSP00000262093:N204S	N	-	2	0	FECH	53381198	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.147000	0.77382	2.242000	0.73789	0.533000	0.62120	AAT		0.408	FECH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256098.1		
ZNF236	7776	broad.mit.edu	37	18	74635065	74635065	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr18:74635065G>A	ENST00000253159.8	+	21	3788	c.3590G>A	c.(3589-3591)tGt>tAt	p.C1197Y	ZNF236_ENST00000320610.9_Missense_Mutation_p.C1199Y	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1197					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CCATACAAATGTGATGAATGT	0.368																																						uc002lmi.2																			0				ovary(4)	4						c.(3589-3591)TGT>TAT		zinc finger protein 236							111.0	107.0	108.0					18																	74635065		2033	4223	6256	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74635065G>A	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.3590G>A	18.37:g.74635065G>A	ENSP00000253159:p.Cys1197Tyr					ZNF236_uc002lmj.2_RNA	p.C1197Y	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	21	3788	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	1197			C2H2-type 23.		B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.3590G>A	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.837225	0.91117	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	D;D	0.85088	-1.94;-1.94	5.34	5.34	0.76211	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.94463	0.8218	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95507	0.8582	10	0.87932	D	0	.	19.0724	0.93145	0.0:0.0:1.0:0.0	.	1197	Q9UL36	ZN236_HUMAN	Y	1197	ENSP00000253159:C1197Y;ENSP00000444524:C1197Y	ENSP00000253159:C1197Y	C	+	2	0	ZNF236	72764053	1.000000	0.71417	0.943000	0.38184	0.978000	0.69477	9.502000	0.97981	2.498000	0.84270	0.650000	0.86243	TGT		0.368	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1		
PLIN4	729359	broad.mit.edu	37	19	4511216	4511216	+	Missense_Mutation	SNP	G	G	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr19:4511216G>T	ENST00000301286.3	-	3	2713	c.2714C>A	c.(2713-2715)aCc>aAc	p.T905N		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	905	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						AGTCTTGCTGGTGTCCACGCC	0.577																																						uc002mar.1																			0					0						c.(2713-2715)ACC>AAC		plasma membrane associated protein, S3-12							102.0	103.0	103.0					19																	4511216		2081	4207	6288	SO:0001583	missense	729359					lipid particle|plasma membrane		g.chr19:4511216G>T	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.2714C>A	19.37:g.4511216G>T	ENSP00000301286:p.Thr905Asn					PLIN4_uc010dub.1_5'UTR	p.T905N	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN			3	2714	-			905			27 X 33 AA approximate tandem repeat.|25.		A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	c.2714C>A	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969436	0.74246	.	.	ENSG00000167676	ENST00000301286	T	0.08458	3.09	5.08	5.08	0.68730	.	0.136731	0.32935	N	0.005463	T	0.26810	0.0656	M	0.87038	2.855	0.36300	D	0.856998	D	0.53312	0.959	P	0.53035	0.716	T	0.40421	-0.9564	10	0.56958	D	0.05	-17.6532	15.9434	0.79776	0.0:0.0:1.0:0.0	.	905	Q96Q06	PLIN4_HUMAN	N	905	ENSP00000301286:T905N	ENSP00000301286:T905N	T	-	2	0	PLIN4	4462216	0.015000	0.18098	0.035000	0.18076	0.014000	0.08584	1.376000	0.34306	2.358000	0.79984	0.462000	0.41574	ACC		0.577	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901	
CYP4F8	11283	broad.mit.edu	37	19	15728930	15728930	+	RNA	SNP	C	C	T	rs375063511		TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr19:15728930C>T	ENST00000441682.2	+	0	382							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						ACCCTGACATCGTCCGATCTG	0.567																																						uc002nbi.2																			0				large_intestine(1)	1						c.(316-318)ATC>ATT		cytochrome P450, family 4, subfamily F,		C		0,4372		0,0,2186	139.0	144.0	143.0		318	-0.1	0.0	19		143	1,8597		0,1,4298	no	coding-synonymous	CYP4F8	NM_007253.3		0,1,6484	TT,TC,CC		0.0116,0.0,0.0077		106/521	15728930	1,12969	2186	4299	6485			11283				prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr19:15728930C>T	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"""Cytochrome P450s"""	2648	protein-coding gene	gene with protein product		611545	"""cytochrome P450, subfamily IVF, polypeptide 8"""			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15728930C>T						CYP4F8_uc010xoi.1_Silent_p.I106I|CYP4F8_uc010xoj.1_Intron	p.I106I	NM_007253	NP_009184	P98187	CP4F8_HUMAN			3	382	+			106						Silent	SNP	ENST00000441682.2	37	c.318C>T																																																																																					0.567	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253	
KCNA7	3743	broad.mit.edu	37	19	49573469	49573469	+	Missense_Mutation	SNP	C	C	T	rs541248038		TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr19:49573469C>T	ENST00000221444.1	-	2	1577	c.1222G>A	c.(1222-1224)Gaa>Aaa	p.E408K		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	408					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	Dalfampridine(DB06637)	CCAGCCTCTTCGCCCTCTGTC	0.597													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18458	0.0		0.0	False		,,,				2504	0.0				Colon(74;686 1235 3793 23366 48562)	uc002pmg.2																			0				central_nervous_system(1)	1						c.(1222-1224)GAA>AAA		potassium voltage-gated channel, shaker-related							72.0	68.0	69.0					19																	49573469		2203	4300	6503	SO:0001583	missense	3743					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:49573469C>T	AF315818	CCDS12755.1	19q13.3	2012-07-05				ENSG00000104848		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6226	protein-coding gene	gene with protein product		176268				16382104	Standard	NM_031886		Approved	Kv1.7, HAK6	uc002pmg.3	Q96RP8		ENST00000221444.1:c.1222G>A	19.37:g.49573469C>T	ENSP00000221444:p.Glu408Lys						p.E408K	NM_031886	NP_114092	Q96RP8	KCNA7_HUMAN		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	2	1578	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	408					A1KYX7|Q9BYS4	Missense_Mutation	SNP	ENST00000221444.1	37	c.1222G>A	CCDS12755.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.254434	0.59212	.	.	ENSG00000104848	ENST00000221444	D	0.97906	-4.6	4.27	4.27	0.50696	.	0.115675	0.56097	D	0.000024	D	0.95950	0.8681	M	0.81239	2.535	0.38548	D	0.949395	P	0.43287	0.802	B	0.32624	0.149	D	0.96567	0.9420	10	0.72032	D	0.01	.	11.2415	0.48972	0.1834:0.8166:0.0:0.0	.	408	Q96RP8	KCNA7_HUMAN	K	408	ENSP00000221444:E408K	ENSP00000221444:E408K	E	-	1	0	KCNA7	54265281	1.000000	0.71417	0.996000	0.52242	0.917000	0.54804	5.766000	0.68843	2.409000	0.81822	0.491000	0.48974	GAA		0.597	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466263.1	NM_031886	
RPL13A	23521	broad.mit.edu	37	19	49994303	49994303	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr19:49994303C>T	ENST00000391857.4	+	6	425	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W	SNORD34_ENST00000365633.1_RNA|SNORD33_ENST00000362761.1_RNA|SNORD32A_ENST00000364805.1_RNA|SNORD35A_ENST00000363389.1_RNA|RPL13A_ENST00000477613.2_3'UTR	NM_001270491.1|NM_012423.3	NP_001257420.1|NP_036555.1	P40429	RL13A_HUMAN	ribosomal protein L13a	117					cellular protein metabolic process (GO:0044267)|cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of formation of translation preinitiation complex (GO:1901194)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|GAIT complex (GO:0097452)|large ribosomal subunit (GO:0015934)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		ACAGAAAAAGCGGATGGTGGT	0.562																																						uc002pny.2																			0					0						c.(349-351)CGG>TGG		ribosomal protein L13a							51.0	51.0	51.0					19																	49994303		2203	4300	6503	SO:0001583	missense	23521				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome	g.chr19:49994303C>T	X56932	CCDS12768.1, CCDS74421.1	19q13.3	2011-04-06			ENSG00000142541	ENSG00000142541		"""L ribosomal proteins"""	10304	protein-coding gene	gene with protein product			"""tissue specific transplantation antigen 1"""	TSTA1			Standard	NM_012423		Approved	L13A	uc031rlt.1	P40429	OTTHUMG00000134289	ENST00000391857.4:c.349C>T	19.37:g.49994303C>T	ENSP00000375730:p.Arg117Trp					RPL13A_uc002pnz.2_Missense_Mutation_p.R56W|RPL13A_uc002poa.2_Missense_Mutation_p.R107W|SNORD35A_uc010enb.1_5'Flank	p.R117W	NM_012423	NP_036555	P40429	RL13A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)	6	371	+		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	117					A8K505	Missense_Mutation	SNP	ENST00000391857.4	37	c.349C>T	CCDS12768.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969284	0.74246	.	.	ENSG00000142541	ENST00000391857	.	.	.	5.61	4.57	0.56435	Ribosomal protein L13 domain (2);	0.075771	0.53938	U	0.000048	T	0.69033	0.3066	M	0.87617	2.895	0.58432	D	0.999998	P;B	0.34587	0.458;0.157	B;B	0.36335	0.222;0.103	T	0.74970	-0.3482	9	0.87932	D	0	.	14.713	0.69247	0.0:0.8541:0.1458:0.0	.	117;117	Q5QTS3;P40429	.;RL13A_HUMAN	W	117	.	ENSP00000375730:R117W	R	+	1	2	RPL13A	54686115	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.353000	0.66034	1.501000	0.48654	0.655000	0.94253	CGG		0.562	RPL13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258989.1		
PRPF31	26121	broad.mit.edu	37	19	54627985	54627985	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr19:54627985C>T	ENST00000321030.4	+	8	1154	c.805C>T	c.(805-807)Ccc>Tcc	p.P269S	PRPF31_ENST00000419967.1_Missense_Mutation_p.P269S|PRPF31_ENST00000498612.1_3'UTR|PRPF31_ENST00000391755.1_Missense_Mutation_p.P269S|AC012314.8_ENST00000452097.1_RNA	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	269	Nop. {ECO:0000255|PROSITE- ProRule:PRU00690}.				mRNA splicing, via spliceosome (GO:0000398)|spliceosomal tri-snRNP complex assembly (GO:0000244)	Cajal body (GO:0015030)|MLL1 complex (GO:0071339)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|U2-type spliceosomal complex (GO:0005684)|U4 snRNP (GO:0005687)|U4/U6 x U5 tri-snRNP complex (GO:0046540)|U4atac snRNP (GO:0005690)	poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|snRNP binding (GO:0070990)			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTCAGTGCTGCCCCACACCGG	0.672																																						uc002qdh.2																			0				ovary(1)	1						c.(805-807)CCC>TCC		pre-mRNA processing factor 31 homolog							88.0	73.0	78.0					19																	54627985		2203	4300	6503	SO:0001583	missense	26121				assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding	g.chr19:54627985C>T	AL050369	CCDS12879.1	19q13.4	2013-07-16	2013-06-10		ENSG00000105618	ENSG00000105618			15446	protein-coding gene	gene with protein product		606419	"""PRP31 pre-mRNA processing factor 31 homolog (yeast)"", ""PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)"""	RP11		11545739	Standard	NM_015629		Approved	NY-BR-99, PRP31, hPrp31, SNRNP61	uc002qdh.2	Q8WWY3	OTTHUMG00000066040	ENST00000321030.4:c.805C>T	19.37:g.54627985C>T	ENSP00000324122:p.Pro269Ser					PRPF31_uc010yek.1_Missense_Mutation_p.P269S	p.P269S	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN			8	1201	+	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		269			Nop.		Q17RB4|Q8N7F9|Q9H271|Q9Y439	Missense_Mutation	SNP	ENST00000321030.4	37	c.805C>T	CCDS12879.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575967	0.86645	.	.	ENSG00000105618	ENST00000321030;ENST00000445811;ENST00000263436;ENST00000419967;ENST00000445124;ENST00000391755	T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36	4.81	4.81	0.61882	Pre-mRNA processing ribonucleoprotein, snoRNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.91243	0.7240	M	0.89715	3.055	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.75020	0.976;0.985	D	0.92242	0.5801	10	0.52906	T	0.07	-27.6067	17.5088	0.87754	0.0:1.0:0.0:0.0	.	269;269	E7ESA8;Q8WWY3	.;PRP31_HUMAN	S	269	ENSP00000324122:P269S;ENSP00000395894:P269S;ENSP00000405166:P269S;ENSP00000408980:P269S;ENSP00000375635:P269S	ENSP00000263436:P269S	P	+	1	0	PRPF31	59319797	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.210000	0.65214	2.601000	0.87937	0.561000	0.74099	CCC		0.672	PRPF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141417.2		
PPP1R12C	54776	broad.mit.edu	37	19	55603589	55603589	+	Splice_Site	SNP	C	C	G			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr19:55603589C>G	ENST00000263433.3	-	19	2176		c.e19+1		PPP1R12C_ENST00000376393.2_Splice_Site|PPP1R12C_ENST00000435544.2_Splice_Site	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GGCGCCCTTACCTGCGTGGCC	0.721																																						uc002qix.2																			0				ovary(1)|central_nervous_system(1)	2						c.e19+1		protein phosphatase 1, regulatory subunit 12C							8.0	9.0	8.0					19																	55603589		2157	4239	6396	SO:0001630	splice_region_variant	54776					cytoplasm		g.chr19:55603589C>G	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14947	protein-coding gene	gene with protein product	"""myosin-binding subunit 85"""	613245	"""leukocyte receptor cluster (LRC) member 3"", ""protein phosphatase 1, regulatory (inhibitor) subunit 12C"""	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.2160+1G>C	19.37:g.55603589C>G						PPP1R12C_uc010yfs.1_Splice_Site_p.Q645_splice|PPP1R12C_uc002qiy.2_Splice_Site_p.Q718_splice	p.Q720_splice	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	19	2176	-									Splice_Site	SNP	ENST00000263433.3	37	c.2160_splice	CCDS12916.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.487417	0.63962	.	.	ENSG00000125503	ENST00000263433;ENST00000376393;ENST00000435544	.	.	.	4.19	3.15	0.36227	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.9667	0.19328	0.0:0.7003:0.1939:0.1058	.	.	.	.	.	-1	.	.	.	-	.	.	PPP1R12C	60295401	1.000000	0.71417	0.993000	0.49108	0.844000	0.47949	5.519000	0.67074	1.129000	0.42072	0.478000	0.44815	.		0.721	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	NM_017607	Intron
NBAS	51594	broad.mit.edu	37	2	15615941	15615941	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr2:15615941G>A	ENST00000281513.5	-	14	1236	c.1211C>T	c.(1210-1212)gCt>gTt	p.A404V	NBAS_ENST00000441750.1_Missense_Mutation_p.A404V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	404					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AGAGCATCGAGCTAAAGTCAC	0.398																																						uc002rcc.1																			0				ovary(2)|liver(1)|skin(1)	4						c.(1210-1212)GCT>GTT		neuroblastoma-amplified protein							60.0	61.0	60.0					2																	15615941		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15615941G>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.1211C>T	2.37:g.15615941G>A	ENSP00000281513:p.Ala404Val					NBAS_uc002rcd.1_RNA	p.A404V	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			14	1237	-			404					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.1211C>T	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799344	0.70567	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.17370	2.28;2.37	6.09	6.09	0.99107	.	0.000000	0.85682	D	0.000000	T	0.40909	0.1136	L	0.48986	1.54	0.45634	D	0.998564	D	0.89917	1.0	D	0.83275	0.996	T	0.03335	-1.1047	10	0.87932	D	0	.	20.6949	0.99706	0.0:0.0:1.0:0.0	.	404	A2RRP1	NBAS_HUMAN	V	404	ENSP00000413201:A404V;ENSP00000281513:A404V	ENSP00000281513:A404V	A	-	2	0	NBAS	15533392	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	9.823000	0.99369	2.899000	0.99337	0.655000	0.94253	GCT		0.398	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909	
WDR92	116143	broad.mit.edu	37	2	68358402	68358402	+	Missense_Mutation	SNP	C	C	G			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr2:68358402C>G	ENST00000295121.6	-	8	1158	c.1042G>C	c.(1042-1044)Gta>Cta	p.V348L	WDR92_ENST00000492039.2_Intron|RP11-474G23.1_ENST00000406334.3_3'UTR	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92	348					apoptotic process (GO:0006915)|histone lysine methylation (GO:0034968)		methylated histone binding (GO:0035064)			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						ACGATCAGTACTCTCACCGTT	0.478																																						uc002see.1																			0					0						c.(1042-1044)GTA>CTA		monad							137.0	130.0	132.0					2																	68358402		2203	4300	6503	SO:0001583	missense	116143				apoptosis|histone lysine methylation		methylated histone residue binding	g.chr2:68358402C>G	AK056303	CCDS1884.1, CCDS58712.1	2p14	2013-01-09			ENSG00000243667	ENSG00000243667		"""WD repeat domain containing"""	25176	protein-coding gene	gene with protein product		610729				16487927	Standard	NM_138458		Approved	FLJ31741, Monad	uc002see.2	Q96MX6	OTTHUMG00000152561	ENST00000295121.6:c.1042G>C	2.37:g.68358402C>G	ENSP00000295121:p.Val348Leu					WDR92_uc002sed.1_Intron	p.V348L	NM_138458	NP_612467	Q96MX6	WDR92_HUMAN			8	1123	-			348			WD 6.		Q96CR6	Missense_Mutation	SNP	ENST00000295121.6	37	c.1042G>C	CCDS1884.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616856	0.87359	.	.	ENSG00000243667	ENST00000295121	T	0.59364	0.27	5.77	5.77	0.91146	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.56097	D	0.000033	T	0.67059	0.2853	M	0.90483	3.12	0.80722	D	1	B	0.25312	0.123	B	0.20184	0.028	T	0.66404	-0.5932	10	0.41790	T	0.15	.	18.536	0.91010	0.0:1.0:0.0:0.0	.	348	Q96MX6	WDR92_HUMAN	L	348	ENSP00000295121:V348L	ENSP00000295121:V348L	V	-	1	0	WDR92	68211906	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.445000	0.80570	2.890000	0.99128	0.585000	0.79938	GTA		0.478	WDR92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251754.2	NM_138458	
TTC31	64427	broad.mit.edu	37	2	74710499	74710499	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr2:74710499C>T	ENST00000233623.5	+	2	98	c.91C>T	c.(91-93)Ctt>Ttt	p.L31F	CCDC142_ENST00000290418.4_5'Flank|CCDC142_ENST00000471713.1_5'Flank|CCDC142_ENST00000393965.3_5'Flank|TTC31_ENST00000442235.2_5'UTR|TTC31_ENST00000410003.1_Missense_Mutation_p.L31F|TTC31_ENST00000463189.1_3'UTR	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	31										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						TGCACCCAAACTTTGCAAGGA	0.582											OREG0014719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002slt.2																			0					0						c.(91-93)CTT>TTT		tetratricopeptide repeat domain 31							65.0	72.0	70.0					2																	74710499		1948	4157	6105	SO:0001583	missense	64427						binding	g.chr2:74710499C>T	AK026819	CCDS42701.1	2p13.1	2013-01-11			ENSG00000115282	ENSG00000115282		"""Tetratricopeptide (TTC) repeat domain containing"""	25759	protein-coding gene	gene with protein product						12477932	Standard	NM_022492		Approved	FLJ12788	uc002slt.2	Q49AM3	OTTHUMG00000152887	ENST00000233623.5:c.91C>T	2.37:g.74710499C>T	ENSP00000233623:p.Leu31Phe		OREG0014719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1154	TTC31_uc002sls.2_5'UTR|TTC31_uc010yrv.1_5'UTR|TTC31_uc002slu.2_5'UTR|CCDC142_uc002slo.2_5'Flank|CCDC142_uc002slq.2_5'Flank|CCDC142_uc002slr.2_5'Flank|CCDC142_uc002slp.2_5'Flank	p.L31F	NM_022492	NP_071937	Q49AM3	TTC31_HUMAN			2	114	+			31					Q4KN40|Q53FD4|Q9H9F7	Missense_Mutation	SNP	ENST00000233623.5	37	c.91C>T	CCDS42701.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.151614	0.57151	.	.	ENSG00000115282	ENST00000410003;ENST00000435361;ENST00000441635;ENST00000233623	T;T	0.48836	0.8;0.8	4.27	2.39	0.29439	.	0.153488	0.29113	N	0.013113	T	0.34513	0.0900	L	0.51422	1.61	0.80722	D	1	B	0.31611	0.331	B	0.25884	0.064	T	0.31280	-0.9949	10	0.87932	D	0	-0.7113	4.5464	0.12083	0.2208:0.6657:0.0:0.1135	.	31	Q49AM3	TTC31_HUMAN	F	31	ENSP00000387213:L31F;ENSP00000233623:L31F	ENSP00000233623:L31F	L	+	1	0	TTC31	74564007	0.199000	0.23386	0.861000	0.33841	0.903000	0.53119	0.259000	0.18405	1.080000	0.41073	0.655000	0.94253	CTT		0.582	TTC31-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328422.1	NM_022492	
RAB3GAP1	22930	broad.mit.edu	37	2	135890504	135890504	+	Missense_Mutation	SNP	G	G	C			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr2:135890504G>C	ENST00000264158.8	+	14	1319	c.1276G>C	c.(1276-1278)Gga>Cga	p.G426R	RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.G382R|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.G426R	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	426					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		ACCATTAGATGGAACTACTTC	0.308																																						uc002tuj.2																			0				ovary(1)|skin(1)	2						c.(1276-1278)GGA>CGA		RAB3 GTPase-activating protein							111.0	117.0	115.0					2																	135890504		2203	4298	6501	SO:0001583	missense	22930					centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	g.chr2:135890504G>C	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.1276G>C	2.37:g.135890504G>C	ENSP00000264158:p.Gly426Arg					RAB3GAP1_uc010fnf.2_Missense_Mutation_p.G426R|RAB3GAP1_uc010fng.2_Missense_Mutation_p.G251R|RAB3GAP1_uc010fnh.1_RNA	p.G426R	NM_012233	NP_036365	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	14	1301	+			426					A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	ENST00000264158.8	37	c.1276G>C	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.542058	0.27563	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.42513	0.98;0.97;0.98	5.08	5.08	0.68730	.	0.659654	0.16169	N	0.226390	T	0.40767	0.1130	L	0.53249	1.67	0.31814	N	0.626819	B;B	0.27380	0.177;0.013	B;B	0.26310	0.068;0.03	T	0.43669	-0.9377	10	0.15066	T	0.55	-2.8054	18.0941	0.89483	0.0:0.0:1.0:0.0	.	426;426	C9J837;Q15042	.;RB3GP_HUMAN	R	426;382;426	ENSP00000264158:G426R;ENSP00000444306:G382R;ENSP00000411418:G426R	ENSP00000264158:G426R	G	+	1	0	RAB3GAP1	135606974	1.000000	0.71417	0.819000	0.32651	0.568000	0.35870	3.713000	0.54882	2.360000	0.80028	0.585000	0.79938	GGA		0.308	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233	
NEB	4703	broad.mit.edu	37	2	152580858	152580858	+	Nonsense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr2:152580858C>T	ENST00000172853.10	-	8	675	c.528G>A	c.(526-528)tgG>tgA	p.W176*	NEB_ENST00000397345.3_Nonsense_Mutation_p.W176*|NEB_ENST00000409198.1_Nonsense_Mutation_p.W176*|NEB_ENST00000603639.1_Nonsense_Mutation_p.W176*|NEB_ENST00000604864.1_Nonsense_Mutation_p.W176*|NEB_ENST00000427231.2_Nonsense_Mutation_p.W176*			P20929	NEBU_HUMAN	nebulin	176					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGTGTCTTCCCAGTTCTGCT	0.493																																						uc010fnx.2																			0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(526-528)TGG>TGA		nebulin isoform 3							112.0	119.0	117.0					2																	152580858		1994	4163	6157	SO:0001587	stop_gained	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152580858C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.528G>A	2.37:g.152580858C>T	ENSP00000172853:p.Trp176*						p.W176*	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	8	719	-			176			Nebulin 3.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Nonsense_Mutation	SNP	ENST00000172853.10	37	c.528G>A		.	.	.	.	.	.	.	.	.	.	C	39	7.630034	0.98399	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000439291	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	20.1519	0.98089	0.0:1.0:0.0:0.0	.	.	.	.	X	176	.	ENSP00000172853:W176X	W	-	3	0	NEB	152289104	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.183000	0.77697	2.861000	0.98227	0.655000	0.94253	TGG		0.493	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
TTN	7273	broad.mit.edu	37	2	179610717	179610717	+	Intron	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr2:179610717C>T	ENST00000591111.1	-	46	10585				TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.M5470I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			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)			CAGAATCTCCCATGGTGAGGA	0.398																																						uc002unb.2																			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.(16408-16410)ATG>ATA		titin isoform novex-3							113.0	112.0	112.0					2																	179610717		2203	4300	6503	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179610717C>T	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.10361-4069G>A	2.37:g.179610717C>T						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.M5470I	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	16634	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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.16410G>A		.	.	.	.	.	.	.	.	.	.	C	2.681	-0.275410	0.05679	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.54866	0.55	6.07	5.02	0.67125	.	.	.	.	.	T	0.23846	0.0577	N	0.01576	-0.805	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.11966	-1.0566	9	0.42905	T	0.14	.	7.9989	0.30284	0.1629:0.7482:0.0:0.089	.	5470	Q8WZ42-6	.	I	5470;751	ENSP00000354117:M5470I	ENSP00000304714:M751I	M	-	3	0	TTN	179318962	0.968000	0.33430	1.000000	0.80357	0.129000	0.20672	0.388000	0.20735	2.884000	0.98904	0.655000	0.94253	ATG		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
C2orf83	56918	broad.mit.edu	37	2	228476292	228476292	+	Missense_Mutation	SNP	T	T	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr2:228476292T>A	ENST00000264387.4	-	3	357	c.271A>T	c.(271-273)Att>Ttt	p.I91F	C2orf83_ENST00000409066.1_3'UTR	NM_020161.3	NP_064546.3	Q53S99	CB083_HUMAN	chromosome 2 open reading frame 83	91					transport (GO:0006810)	membrane (GO:0016020)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						GCAGGGTGAATGAAGGTCAGC	0.517																																						uc002vph.2																			0					0						c.(271-273)ATT>TTT		hypothetical protein LOC56918 isoform 1							95.0	99.0	98.0					2																	228476292		2203	4300	6503	SO:0001583	missense	56918					membrane	folic acid binding|reduced folate carrier activity	g.chr2:228476292T>A		CCDS33388.1, CCDS54434.1	2q36.3	2008-09-16			ENSG00000042304	ENSG00000042304			25344	protein-coding gene	gene with protein product							Standard	NM_020161		Approved	DKFZp547H025	uc002vph.3	Q53S99	OTTHUMG00000153550	ENST00000264387.4:c.271A>T	2.37:g.228476292T>A	ENSP00000264387:p.Ile91Phe					C2orf83_uc010zlu.1_3'UTR	p.I91F	NM_020161	NP_064546	Q53S99	CB083_HUMAN			3	506	-			91					A2RRG6|B8ZZI8|Q9NPW4	Missense_Mutation	SNP	ENST00000264387.4	37	c.271A>T	CCDS33388.1	.	.	.	.	.	.	.	.	.	.	T	9.831	1.188383	0.21954	.	.	ENSG00000042304	ENST00000264387	T	0.61040	0.14	2.2	-4.39	0.03611	.	.	.	.	.	T	0.32194	0.0821	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.31943	-0.9925	7	0.72032	D	0.01	.	4.854	0.13550	0.0:0.1349:0.3887:0.4764	.	91	Q53S99	CB083_HUMAN	F	91	ENSP00000264387:I91F	ENSP00000264387:I91F	I	-	1	0	C2orf83	228184536	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.918000	0.01574	-1.032000	0.03304	-1.563000	0.00883	ATT		0.517	C2orf83-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331607.1	NM_020161	
PTPRT	11122	broad.mit.edu	37	20	41100999	41100999	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr20:41100999G>A	ENST00000373187.1	-	8	1356	c.1357C>T	c.(1357-1359)Cgc>Tgc	p.R453C	PTPRT_ENST00000373198.4_Missense_Mutation_p.R453C|PTPRT_ENST00000373184.1_Missense_Mutation_p.R453C|PTPRT_ENST00000356100.2_Missense_Mutation_p.R453C|PTPRT_ENST00000373190.1_Missense_Mutation_p.R453C|PTPRT_ENST00000373201.1_Missense_Mutation_p.R453C|PTPRT_ENST00000373193.3_Missense_Mutation_p.R453C			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	453	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.		R -> C (in a gastric cancer). {ECO:0000269|PubMed:15155950}.		cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ATGAAGGGGCGCAGGCCTCGC	0.607																																						uc002xkg.2																			0				skin(8)|ovary(7)|lung(5)	20						c.(1357-1359)CGC>TGC		protein tyrosine phosphatase, receptor type, T							58.0	65.0	63.0					20																	41100999		2151	4249	6400	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:41100999G>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1357C>T	20.37:g.41100999G>A	ENSP00000362283:p.Arg453Cys					PTPRT_uc010ggj.2_Missense_Mutation_p.R453C	p.R453C	NM_007050	NP_008981	O14522	PTPRT_HUMAN			8	1541	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	453		R -> C (in a gastric cancer).	Extracellular (Potential).|Fibronectin type-III 2.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.1357C>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982774	0.74474	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53;0.53	5.29	4.32	0.51571	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.64271	0.2583	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.65010	0.931;0.772	T	0.62996	-0.6735	10	0.36615	T	0.2	.	15.0832	0.72130	0.0:0.0:0.8569:0.143	.	453;453	O14522-1;O14522	.;PTPRT_HUMAN	C	453	ENSP00000362286:R453C;ENSP00000362283:R453C;ENSP00000362289:R453C;ENSP00000348408:R453C;ENSP00000362294:R453C;ENSP00000362280:R453C;ENSP00000362297:R453C	ENSP00000348408:R453C	R	-	1	0	PTPRT	40534413	0.999000	0.42202	0.977000	0.42913	0.955000	0.61496	3.443000	0.52907	1.195000	0.43115	0.462000	0.41574	CGC		0.607	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1		
SLC13A3	64849	broad.mit.edu	37	20	45204315	45204315	+	Missense_Mutation	SNP	G	G	C			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr20:45204315G>C	ENST00000279027.4	-	10	1247	c.1229C>G	c.(1228-1230)aCa>aGa	p.T410R	SLC13A3_ENST00000435032.1_Intron|SLC13A3_ENST00000495082.1_Missense_Mutation_p.T363R|SLC13A3_ENST00000396360.1_Missense_Mutation_p.T328R|SLC13A3_ENST00000472148.1_Missense_Mutation_p.T328R|SLC13A3_ENST00000290317.5_Missense_Mutation_p.T363R|SLC13A3_ENST00000413164.2_Missense_Mutation_p.T360R	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	410					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CTCTGTCTCTGTGTTGGGAGC	0.622																																						uc002xsf.1																			0				ovary(1)	1						c.(1228-1230)ACA>AGA		solute carrier family 13 member 3 isoform a	Succinic acid(DB00139)						78.0	62.0	67.0					20																	45204315		2203	4300	6503	SO:0001583	missense	64849					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	g.chr20:45204315G>C	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1229C>G	20.37:g.45204315G>C	ENSP00000279027:p.Thr410Arg					SLC13A3_uc010ghn.1_Missense_Mutation_p.T379R|SLC13A3_uc010zxw.1_Missense_Mutation_p.T360R|SLC13A3_uc002xsg.1_Missense_Mutation_p.T363R|SLC13A3_uc010gho.1_Missense_Mutation_p.T328R|SLC13A3_uc010zxx.1_Missense_Mutation_p.T312R|SLC13A3_uc010zxv.1_Intron	p.T410R	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN			10	1267	-		Myeloproliferative disorder(115;0.0122)	410			Cytoplasmic (Potential).		B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	ENST00000279027.4	37	c.1229C>G	CCDS13400.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.542699	0.45280	.	.	ENSG00000158296	ENST00000290317;ENST00000396360;ENST00000279027;ENST00000472148;ENST00000413164;ENST00000495082;ENST00000468915	T;T;T;T;T;T;T	0.06449	3.88;4.14;4.14;4.14;3.68;3.88;3.3	5.14	4.2	0.49525	.	0.384707	0.30676	N	0.009108	T	0.09423	0.0232	L	0.33668	1.02	0.80722	D	1	B;P;P;P	0.40619	0.025;0.677;0.677;0.724	B;B;P;P	0.49528	0.082;0.377;0.48;0.614	T	0.38693	-0.9649	10	0.20046	T	0.44	-1.9515	12.5324	0.56122	0.0798:0.0:0.9202:0.0	.	360;328;363;410	B4DIR8;Q8WWT9-3;F6WI18;Q8WWT9	.;.;.;S13A3_HUMAN	R	363;328;410;328;360;363;363	ENSP00000290317:T363R;ENSP00000379648:T328R;ENSP00000279027:T410R;ENSP00000420177:T328R;ENSP00000415852:T360R;ENSP00000419621:T363R;ENSP00000417784:T363R	ENSP00000279027:T410R	T	-	2	0	SLC13A3	44637722	0.991000	0.36638	0.901000	0.35422	0.934000	0.57294	1.134000	0.31442	1.172000	0.42781	0.655000	0.94253	ACA		0.622	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2		
KRTAP10-1	386677	broad.mit.edu	37	21	45959481	45959481	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr21:45959481C>T	ENST00000400375.1	-	1	597	c.553G>A	c.(553-555)Gtg>Atg	p.V185M	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	185	24 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						CGGACGGGCACGCAGCAGGCC	0.627																																						uc002zfh.1																			0				skin(1)	1						c.(553-555)GTG>ATG		keratin associated protein 10-1							125.0	131.0	129.0					21																	45959481		2203	4300	6503	SO:0001583	missense	386677					keratin filament		g.chr21:45959481C>T	AJ566380	CCDS42954.1	21q22.3	2007-10-05			ENSG00000215455	ENSG00000215455		"""Keratin associated proteins"""	22966	protein-coding gene	gene with protein product				KRTAP18-1			Standard	NM_198691		Approved	KAP10.1, KAP18.1	uc002zfh.1	P60331	OTTHUMG00000057627	ENST00000400375.1:c.553G>A	21.37:g.45959481C>T	ENSP00000383226:p.Val185Met					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.V185M	NM_198691	NP_941964	P60331	KR101_HUMAN			1	598	-			185			16.|24 X 5 AA repeats of C-C-X(3).		Q0VAR0|Q0VAR1	Missense_Mutation	SNP	ENST00000400375.1	37	c.553G>A	CCDS42954.1	.	.	.	.	.	.	.	.	.	.	c	0.036	-1.308171	0.01342	.	.	ENSG00000215455	ENST00000400375;ENST00000545982	T	0.01438	4.89	1.91	0.043	0.14220	.	.	.	.	.	T	0.04998	0.0134	M	0.84326	2.69	0.09310	N	1	D	0.65815	0.995	P	0.56788	0.806	T	0.26573	-1.0099	9	0.39692	T	0.17	.	5.9952	0.19489	0.0:0.6946:0.0:0.3054	.	185	P60331	KR101_HUMAN	M	185	ENSP00000383226:V185M	ENSP00000383226:V185M	V	-	1	0	KRTAP10-1	44783909	0.000000	0.05858	0.000000	0.03702	0.322000	0.28314	-2.725000	0.00808	-0.003000	0.14444	-0.320000	0.08662	GTG		0.627	KRTAP10-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128030.1		
RIMBP3	85376	broad.mit.edu	37	22	20458153	20458153	+	Missense_Mutation	SNP	G	G	A	rs370505908		TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr22:20458153G>A	ENST00000426804.1	-	1	3633	c.3149C>T	c.(3148-3150)aCg>aTg	p.T1050M	RN7SKP131_ENST00000363006.1_RNA|SCARNA18_ENST00000516215.1_RNA|SCARNA17_ENST00000516762.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	1050	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			CCGGTAGTGCGTGCCGGGGCA	0.642																																						uc002zsd.3																			0					0						c.(3148-3150)ACG>ATG		RIMS binding protein 3		A	MET/THR	0,4208		0,0,2104	65.0	81.0	76.0		3149	-1.5	0.0	22		76	1,8479		0,1,4239	no	missense	RIMBP3	NM_015672.1	81	0,1,6343	AA,AG,GG		0.0118,0.0,0.0079	possibly-damaging	1050/1640	20458153	1,12687	2104	4240	6344	SO:0001583	missense	85376							g.chr22:20458153G>A	AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.3149C>T	22.37:g.20458153G>A	ENSP00000391564:p.Thr1050Met						p.T1050M	NM_015672	NP_056487			LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)		1	3634	-	Colorectal(54;0.0993)|Melanoma(16;0.165)							Q8IYP7|Q9BY94|Q9UFQ5	Missense_Mutation	SNP	ENST00000426804.1	37	c.3149C>T	CCDS46665.1	.	.	.	.	.	.	.	.	.	.	G	1.236	-0.622719	0.03636	0.0	1.18E-4	ENSG00000196622	ENST00000355186;ENST00000426804	T	0.61158	0.13	3.56	-1.47	0.08772	Fibronectin, type III (2);	0.871584	0.09979	N	0.731210	T	0.43809	0.1264	M	0.76574	2.34	0.09310	N	0.999996	P	0.49783	0.928	B	0.32465	0.146	T	0.44997	-0.9291	10	0.66056	D	0.02	-1.4804	1.5548	0.02582	0.1518:0.1337:0.4426:0.2719	.	956	Q9UFD9	RIM3A_HUMAN	M	956;1050	ENSP00000391564:T1050M	ENSP00000347318:T956M	T	-	2	0	RIMBP3	18838153	0.791000	0.28800	0.000000	0.03702	0.000000	0.00434	0.997000	0.29731	-0.361000	0.08125	-3.712000	0.00023	ACG		0.642	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	NM_015672	
CABIN1	23523	broad.mit.edu	37	22	24439394	24439394	+	Missense_Mutation	SNP	A	A	G			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr22:24439394A>G	ENST00000398319.2	+	6	759	c.374A>G	c.(373-375)aAc>aGc	p.N125S	CABIN1_ENST00000263119.5_Missense_Mutation_p.N125S|CABIN1_ENST00000405822.2_Missense_Mutation_p.N125S	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	125					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ACAGATGTCAACCTCTGGTAT	0.557																																						uc002zzi.1																			0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(373-375)AAC>AGC		calcineurin binding protein 1							141.0	117.0	125.0					22																	24439394		2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24439394A>G	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.374A>G	22.37:g.24439394A>G	ENSP00000381364:p.Asn125Ser					CABIN1_uc002zzj.1_Missense_Mutation_p.N125S|CABIN1_uc002zzl.1_Missense_Mutation_p.N125S|CABIN1_uc010guk.1_Missense_Mutation_p.N80S|CABIN1_uc002zzk.1_Missense_Mutation_p.N80S	p.N125S	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN			6	501	+			125			TPR 3.		G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.374A>G	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	A	13.28	2.191243	0.38707	.	.	ENSG00000099991	ENST00000454754;ENST00000263119;ENST00000405822;ENST00000445422;ENST00000398319;ENST00000536026	T;T;T;T;T	0.73258	-0.73;0.29;0.29;-0.73;0.29	5.34	4.28	0.50868	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.045285	0.85682	N	0.000000	T	0.64182	0.2575	L	0.39566	1.225	0.80722	D	1	B;P;B;B	0.51147	0.001;0.942;0.0;0.0	B;P;B;B	0.47299	0.006;0.543;0.005;0.007	T	0.58640	-0.7601	10	0.21540	T	0.41	.	10.8762	0.46913	0.925:0.0:0.075:0.0	.	80;125;125;125	C9J068;F5H5W5;G5E9F3;Q9Y6J0	.;.;.;CABIN_HUMAN	S	80;125;125;80;125;125	ENSP00000394209:N80S;ENSP00000263119:N125S;ENSP00000384694:N125S;ENSP00000412389:N80S;ENSP00000381364:N125S	ENSP00000263119:N125S	N	+	2	0	CABIN1	22769394	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	2.979000	0.49313	0.961000	0.38030	0.529000	0.55759	AAC		0.557	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295	
MAPK8IP2	23542	broad.mit.edu	37	22	51042339	51042340	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr22:51042339_51042340delGC	ENST00000329492.3	+	5	728_729	c.611_612delGC	c.(610-612)tgcfs	p.C204fs	MAPK8IP2_ENST00000399908.2_5'UTR|MAPK8IP2_ENST00000341339.4_Intron|CHKB_ENST00000463053.1_5'Flank|MAPK8IP2_ENST00000008876.5_Intron|MAPK8IP2_ENST00000399912.1_5'UTR|MAPK8IP2_ENST00000442429.2_Frame_Shift_Del_p.C204fs	NM_012324.3	NP_036456.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	204	JNK-binding domain (JBD).				behavioral fear response (GO:0001662)|dendrite morphogenesis (GO:0048813)|MAPK cascade (GO:0000165)|nonassociative learning (GO:0046958)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of signal transduction (GO:0009967)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of JNK cascade (GO:0046328)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of receptor activity (GO:0010469)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal complex assembly (GO:0007172)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|neuronal postsynaptic density (GO:0097481)	beta-amyloid binding (GO:0001540)|kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGCCCGGGTTGCGACTGCGAAG	0.743																																						uc003bmx.2																			0				large_intestine(2)|central_nervous_system(1)	3						c.(610-612)TGCfs		mitogen-activated protein kinase 8 interacting																																				SO:0001589	frameshift_variant	23542				behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding	g.chr22:51042339_51042340delGC	AL021708	CCDS74886.1	22q13.33	2010-04-06			ENSG00000008735	ENSG00000008735			6883	protein-coding gene	gene with protein product	"""islet-brain 2"", ""JNK-interacting protein 2"""	607755	"""PRKM8 interacting protein-like"""	PRKM8IPL		10490659	Standard	NM_012324		Approved	IB2, JIP2	uc003bmy.3	Q13387	OTTHUMG00000150181	ENST00000329492.3:c.611_612delGC	22.37:g.51042339_51042340delGC	ENSP00000330572:p.Cys204fs					MAPK8IP2_uc003bmy.2_Frame_Shift_Del_p.C177fs|MAPK8IP2_uc011asc.1_5'Flank	p.C204fs	NM_012324	NP_036456	Q13387	JIP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	5	728_729	+		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	204			JNK-binding domain (JBD).		Q96G62|Q99771|Q9NZ59|Q9UKQ4	Frame_Shift_Del	DEL	ENST00000329492.3	37	c.611_612delGC																																																																																					0.743	MAPK8IP2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_012324	
TADA3	10474	broad.mit.edu	37	3	9825867	9825867	+	Silent	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr3:9825867G>A	ENST00000301964.2	-	8	1509	c.951C>T	c.(949-951)cgC>cgT	p.R317R	TADA3_ENST00000343450.2_Silent_p.R317R|TADA3_ENST00000440161.1_Silent_p.R317R	NM_006354.2	NP_006345.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	317					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|intracellular estrogen receptor signaling pathway (GO:0030520)|mitotic nuclear division (GO:0007067)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of histone deacetylation (GO:0031063)|regulation of protein phosphorylation (GO:0001932)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of tubulin deacetylation (GO:0090043)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|intracellular (GO:0005622)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						CCTCCTTGATGCGGCTCTCCA	0.622																																						uc003bsx.1																			0					0						c.(949-951)CGC>CGT		transcriptional adaptor 3 isoform a							45.0	43.0	44.0					3																	9825867		2203	4300	6503	SO:0001819	synonymous_variant	10474				estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr3:9825867G>A	AF069733	CCDS2583.1, CCDS2584.1	3p25.3	2010-08-13	2009-10-02	2009-10-02	ENSG00000171148	ENSG00000171148			19422	protein-coding gene	gene with protein product		602945	"""transcriptional adaptor 3 (NGG1 homolog, yeast)-like"""	TADA3L		9674425, 11707411	Standard	NM_006354		Approved	FLJ20221, FLJ21329, ADA3, hADA3, NGG1	uc010hcn.2	O75528	OTTHUMG00000128440	ENST00000301964.2:c.951C>T	3.37:g.9825867G>A						TADA3_uc010hcn.1_Silent_p.R317R|TADA3_uc003bsy.2_Silent_p.R317R|TADA3_uc003bsw.1_Silent_p.R146R	p.R317R	NM_006354	NP_006345	O75528	TADA3_HUMAN			8	1499	-			317					Q6FI83|Q9UFS2	Silent	SNP	ENST00000301964.2	37	c.951C>T	CCDS2583.1																																																																																				0.622	TADA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250236.1		
PLCL2	23228	broad.mit.edu	37	3	17052411	17052411	+	Missense_Mutation	SNP	A	A	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr3:17052411A>T	ENST00000418129.2	+	2	1660	c.1195A>T	c.(1195-1197)Att>Ttt	p.I399F	PLCL2_ENST00000396755.2_Missense_Mutation_p.I399F|PLCL2_ENST00000432376.1_Missense_Mutation_p.I399F|PLCL2_ENST00000460467.1_3'UTR	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	525					B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CCACTGTTCCATTAAACAACA	0.373																																						uc011awc.1																			0				skin(2)|ovary(1)|lung(1)	4						c.(1549-1551)ATT>TTT		phospholipase C-like 2 isoform 1							66.0	63.0	64.0					3																	17052411		2203	4299	6502	SO:0001583	missense	23228				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:17052411A>T	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.1195A>T	3.37:g.17052411A>T	ENSP00000409637:p.Ile399Phe					PLCL2_uc010het.1_Missense_Mutation_p.H126L|PLCL2_uc011awd.1_Missense_Mutation_p.I399F	p.I517F	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN			5	1654	+			525			PI-PLC X-box.		A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	ENST00000418129.2	37	c.1549A>T	CCDS33713.1	.	.	.	.	.	.	.	.	.	.	A	6.871	0.530028	0.13127	.	.	ENSG00000154822	ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	T;T;T	0.53423	0.62;0.62;0.62	5.96	4.81	0.61882	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.188840	0.51477	D	0.000089	T	0.30262	0.0759	.	.	.	0.23845	N	0.996682	B	0.28178	0.202	B	0.36335	0.222	T	0.30563	-0.9974	9	0.10111	T	0.7	.	5.7469	0.18124	0.7151:0.143:0.1418:0.0	.	525	Q9UPR0	PLCL2_HUMAN	F	399;526;399;399	ENSP00000409637:I399F;ENSP00000379979:I399F;ENSP00000412836:I399F	ENSP00000285094:I526F	I	+	1	0	PLCL2	17027415	0.424000	0.25490	0.260000	0.24451	0.678000	0.39670	1.199000	0.32235	1.089000	0.41292	0.533000	0.62120	ATT		0.373	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3		
SEC22C	9117	broad.mit.edu	37	3	42602655	42602655	+	Silent	SNP	C	C	G			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr3:42602655C>G	ENST00000264454.3	-	4	623	c.480G>C	c.(478-480)gtG>gtC	p.V160V	SEC22C_ENST00000423701.2_Silent_p.V160V|SEC22C_ENST00000536332.1_Silent_p.V90V|SEC22C_ENST00000273156.7_Silent_p.V160V|SEC22C_ENST00000493107.1_5'UTR|SEC22C_ENST00000417572.1_Silent_p.V160V			Q9BRL7	SC22C_HUMAN	SEC22 vesicle trafficking protein homolog C (S. cerevisiae)	160					ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		CCCCATTTGCCACATCTGTGT	0.468																																						uc003clj.2																			0					0						c.(478-480)GTG>GTC		SEC22 vesicle trafficking protein homolog C							133.0	124.0	127.0					3																	42602655		2203	4300	6503	SO:0001819	synonymous_variant	9117				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane		g.chr3:42602655C>G	AF039568	CCDS2699.1, CCDS2700.1, CCDS56246.1	3p24.3-p22.1	2006-04-25	2006-04-25	2006-04-25	ENSG00000093183	ENSG00000093183			16828	protein-coding gene	gene with protein product		604028	"""SEC22 vesicle trafficking protein-like 3 (S. cerevisiae)"""	SEC22L3		9501016, 11001058	Standard	NM_004206		Approved	MGC13261, MGC5373	uc003clj.3	Q9BRL7	OTTHUMG00000131797	ENST00000264454.3:c.480G>C	3.37:g.42602655C>G						SEC22C_uc003clh.2_Silent_p.V160V|SEC22C_uc011azo.1_Silent_p.V90V|SEC22C_uc010hic.2_Silent_p.V160V|SEC22C_uc003cli.2_Silent_p.V160V	p.V160V	NM_032970	NP_116752	Q9BRL7	SC22C_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.222)	4	598	-			160			Cytoplasmic (Potential).		O95152|Q68CX3|Q6UW18	Silent	SNP	ENST00000264454.3	37	c.480G>C	CCDS2700.1	.	.	.	.	.	.	.	.	.	.	C	9.171	1.021221	0.19433	.	.	ENSG00000093183	ENST00000451653	.	.	.	5.71	2.82	0.32997	.	.	.	.	.	T	0.36413	0.0966	.	.	.	0.22266	N	0.999243	.	.	.	.	.	.	T	0.20438	-1.0275	4	.	.	.	-16.9816	9.5317	0.39198	0.0:0.6596:0.2687:0.0717	.	.	.	.	R	82	.	.	G	-	1	0	SEC22C	42577659	0.849000	0.29639	0.332000	0.25469	0.994000	0.84299	0.788000	0.26872	0.284000	0.22305	0.655000	0.94253	GGC		0.468	SEC22C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254734.1	NM_004206	
ARIH2	10425	broad.mit.edu	37	3	48965232	48965232	+	Missense_Mutation	SNP	G	G	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr3:48965232G>T	ENST00000356401.4	+	3	580	c.241G>T	c.(241-243)Gct>Tct	p.A81S	ARIH2_ENST00000449376.1_Missense_Mutation_p.A81S|ARIH2_ENST00000490095.1_Intron	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	81					developmental cell growth (GO:0048588)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organismal development (GO:0007275)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		GACCAGCTTAGCTTCTGTCCT	0.483																																						uc003cvb.2																			0				ovary(1)	1						c.(241-243)GCT>TCT		ariadne homolog 2							116.0	109.0	111.0					3																	48965232		2203	4300	6503	SO:0001583	missense	10425				developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:48965232G>T	AF099149	CCDS2780.1	3p21	2013-10-03	2013-10-03		ENSG00000177479	ENSG00000177479			690	protein-coding gene	gene with protein product	"""all-trans retinoic acid inducible RING finger"""	605615	"""ariadne (Drosophila) homolog 2"", ""ariadne homolog 2 (Drosophila)"""			10422847, 24058416	Standard	XM_005264798		Approved	TRIAD1	uc003cvb.3	O95376	OTTHUMG00000133547	ENST00000356401.4:c.241G>T	3.37:g.48965232G>T	ENSP00000348769:p.Ala81Ser					ARIH2_uc003cvc.2_Missense_Mutation_p.A81S|ARIH2_uc003cvf.2_5'UTR|ARIH2_uc010hkl.2_Missense_Mutation_p.A81S|ARIH2_uc003cvd.1_Missense_Mutation_p.A81S|ARIH2_uc003cve.1_Missense_Mutation_p.A81S	p.A81S	NM_006321	NP_006312	O95376	ARI2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)	3	553	+			81					Q9HBZ6|Q9UEM9	Missense_Mutation	SNP	ENST00000356401.4	37	c.241G>T	CCDS2780.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.240132	0.22711	.	.	ENSG00000177479	ENST00000452882;ENST00000430423;ENST00000356401;ENST00000449376;ENST00000420814;ENST00000449729;ENST00000444790	T;T;D;D;T;T	0.81739	1.51;1.65;-1.53;-1.53;1.51;1.07	5.24	5.24	0.73138	.	0.052689	0.85682	D	0.000000	T	0.59115	0.2170	N	0.11427	0.14	0.58432	D	0.999997	B;B;B;B	0.31193	0.003;0.312;0.15;0.0	B;B;B;B	0.25884	0.002;0.064;0.03;0.001	T	0.61686	-0.7012	10	0.02654	T	1	.	14.1594	0.65436	0.0:0.0:0.8501:0.1499	.	88;81;81;81	B3KMG5;C9JBC5;F8WCS4;O95376	.;.;.;ARI2_HUMAN	S	81;81;81;81;81;81;80	ENSP00000395560:A81S;ENSP00000399788:A81S;ENSP00000348769:A81S;ENSP00000403222:A81S;ENSP00000397225:A81S;ENSP00000404838:A81S	ENSP00000348769:A81S	A	+	1	0	ARIH2	48940236	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.200000	0.77838	2.637000	0.89404	0.551000	0.68910	GCT		0.483	ARIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257525.1	NM_006321	
ROBO2	6092	broad.mit.edu	37	3	77147196	77147196	+	Silent	SNP	G	G	A	rs199878362		TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr3:77147196G>A	ENST00000461745.1	+	2	993	c.93G>A	c.(91-93)ccG>ccA	p.P31P	ROBO2_ENST00000332191.8_Silent_p.P31P|ROBO2_ENST00000487694.3_Silent_p.P47P	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	31	Ig-like C2-type 1.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACTTTCCCCCGCGGATTGTGG	0.537																																						uc003dpy.3																			0				lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11						c.(91-93)CCG>CCA		roundabout, axon guidance receptor, homolog 2							44.0	47.0	46.0					3																	77147196		1941	4128	6069	SO:0001819	synonymous_variant	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77147196G>A	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.93G>A	3.37:g.77147196G>A						ROBO2_uc003dpz.2_Silent_p.P31P|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Silent_p.P31P	p.P31P	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	2	736	+			31			Ig-like C2-type 1.|Extracellular (Potential).		O43608|Q19AB4|Q19AB5	Silent	SNP	ENST00000461745.1	37	c.93G>A	CCDS43109.1																																																																																				0.537	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246	
ADCY5	111	broad.mit.edu	37	3	123036910	123036910	+	Missense_Mutation	SNP	C	C	T	rs201333022		TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr3:123036910C>T	ENST00000462833.1	-	11	3523	c.2311G>A	c.(2311-2313)Gtc>Atc	p.V771I	ADCY5_ENST00000309879.5_Missense_Mutation_p.V421I|ADCY5_ENST00000491190.1_Missense_Mutation_p.V404I	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	771					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AAGAGGAAGACGAGCGAGGCA	0.602																																						uc003egh.1																			0				ovary(4)	4						c.(2311-2313)GTC>ATC		adenylate cyclase 5							166.0	136.0	146.0					3																	123036910		2203	4300	6503	SO:0001583	missense	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123036910C>T	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.2311G>A	3.37:g.123036910C>T	ENSP00000419361:p.Val771Ile					ADCY5_uc003egg.1_Missense_Mutation_p.V404I|ADCY5_uc003egi.1_Missense_Mutation_p.V330I	p.V771I	NM_183357	NP_899200	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	11	2311	-			771			Helical; (Potential).		B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	c.2311G>A	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966376	0.74131	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000008	T	0.35422	0.0931	L	0.48877	1.53	0.80722	D	1	B;P	0.45176	0.274;0.852	B;B	0.36534	0.065;0.227	T	0.14783	-1.0460	10	0.15066	T	0.55	.	19.005	0.92846	0.0:1.0:0.0:0.0	.	771;404	O95622;B3KWA8	ADCY5_HUMAN;.	I	771;404;421;330	ENSP00000419361:V771I;ENSP00000418537:V404I;ENSP00000308685:V421I;ENSP00000420082:V330I	ENSP00000308685:V421I	V	-	1	0	ADCY5	124519600	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.264000	0.78432	2.724000	0.93272	0.491000	0.48974	GTC		0.602	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048	
TNFSF10	8743	broad.mit.edu	37	3	172241153	172241153	+	Missense_Mutation	SNP	C	C	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr3:172241153C>A	ENST00000241261.2	-	1	144	c.22G>T	c.(22-24)Ggg>Tgg	p.G8W	TNFSF10_ENST00000420541.2_Missense_Mutation_p.G8W	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	8					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|male gonad development (GO:0008584)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to insulin (GO:0032868)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CTGGGTCCCCCCTGGACCTCC	0.527																																						uc003fid.2																			0				skin(4)|lung(1)	5						c.(22-24)GGG>TGG		tumor necrosis factor (ligand) superfamily,							100.0	89.0	93.0					3																	172241153		2203	4300	6503	SO:0001583	missense	8743				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding	g.chr3:172241153C>A	U37518	CCDS3219.1, CCDS54680.1	3q26	2006-09-20			ENSG00000121858	ENSG00000121858		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11925	protein-coding gene	gene with protein product		603598				8777713, 8663110	Standard	NM_003810		Approved	TRAIL, Apo-2L, TL2, CD253	uc003fid.3	P50591	OTTHUMG00000156917	ENST00000241261.2:c.22G>T	3.37:g.172241153C>A	ENSP00000241261:p.Gly8Trp					TNFSF10_uc003fie.2_Missense_Mutation_p.G8W|TNFSF10_uc010hwu.1_RNA	p.G8W	NM_003810	NP_003801	P50591	TNF10_HUMAN	Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		1	117	-	Ovarian(172;0.00197)|Breast(254;0.158)		8			Cytoplasmic (Potential).		A1Y9B3	Missense_Mutation	SNP	ENST00000241261.2	37	c.22G>T	CCDS3219.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.147510	0.57151	.	.	ENSG00000121858	ENST00000241261;ENST00000420541	T;T	0.48522	0.81;0.81	5.41	3.59	0.41128	.	0.938103	0.09088	N	0.850224	T	0.62913	0.2467	M	0.68952	2.095	0.09310	N	1	D;D	0.65815	0.995;0.992	P;P	0.61592	0.891;0.782	T	0.47086	-0.9144	10	0.66056	D	0.02	0.0277	8.8729	0.35327	0.0:0.8195:0.0:0.1805	.	8;8	A1Y9B3;P50591	.;TNF10_HUMAN	W	8	ENSP00000241261:G8W;ENSP00000389931:G8W	ENSP00000241261:G8W	G	-	1	0	TNFSF10	173723847	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.384000	0.20668	0.638000	0.30545	0.655000	0.94253	GGG		0.527	TNFSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346601.1		
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C	rs369326402	byFrequency	TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597																																						uc011bto.1																			10	Substitution - Missense(10)		kidney(4)|prostate(3)|urinary_tract(2)|endometrium(1)		0						c.(12229-12231)CAC>CAG		mucin 4 isoform a							15.0	14.0	14.0					3																	195505836		687	1573	2260	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505836G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12615C>G	3.37:g.195505836G>C	ENSP00000417498:p.His4205Gln					MUC4_uc003fva.2_5'Flank|MUC4_uc003fvb.2_5'Flank|MUC4_uc003fvc.2_5'Flank|MUC4_uc003fvd.2_5'Flank|MUC4_uc003fve.2_5'Flank|MUC4_uc010hzr.2_5'Flank|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	p.H4077Q	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	3	12691	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12231C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	0.099	-1.155501	0.01686	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30448	1.55;1.53	.	.	.	.	.	.	.	.	T	0.17619	0.0423	N	0.19112	0.55	0.21950	N	0.999454	P	0.35208	0.49	B	0.40038	0.317	T	0.24368	-1.0162	6	.	.	.	.	.	.	.	.	4077	E7ESK3	.	Q	4205	ENSP00000417498:H4205Q;ENSP00000420243:H4205Q	.	H	-	3	2	MUC4	196990615	.	.	0.016000	0.15963	0.046000	0.14306	.	.	-0.849000	0.04158	0.074000	0.15403	CAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	broad.mit.edu	37	3	195516064	195516064	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr3:195516064C>T	ENST00000463781.3	-	2	2846	c.2387G>A	c.(2386-2388)cGa>cAa	p.R796Q	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.R796Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	801	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.R796Q(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGAGGTGGTTCGTGACCCTGA	0.602																																						uc011bto.1																			1	Substitution - Missense(1)		breast(1)		0						c.(2386-2388)CGA>CAA		mucin 4 isoform a							100.0	111.0	108.0					3																	195516064		2180	4275	6455	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195516064C>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.2387G>A	3.37:g.195516064C>T	ENSP00000417498:p.Arg796Gln					MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.R678Q	p.R796Q	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	2847	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	801			Ser-rich.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.2387G>A	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	7.648	0.682225	0.14907	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.51325	0.71;0.73	2.59	-3.42	0.04825	.	2.040130	0.02641	N	0.105341	T	0.23766	0.0575	N	0.14661	0.345	0.09310	N	1	B;B	0.26975	0.165;0.001	B;B	0.08055	0.003;0.0	T	0.05068	-1.0908	10	0.14252	T	0.57	-1.2694	3.8705	0.09035	0.0:0.2731:0.3991:0.3278	.	796;801	E7ESK3;Q99102	.;MUC4_HUMAN	Q	796;796;770	ENSP00000417498:R796Q;ENSP00000420243:R796Q	ENSP00000376209:R770Q	R	-	2	0	MUC4	197000459	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.106000	0.10890	-0.730000	0.04869	-0.354000	0.07668	CGA		0.602	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
SH3TC1	54436	broad.mit.edu	37	4	8233729	8233729	+	Missense_Mutation	SNP	T	T	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr4:8233729T>A	ENST00000245105.3	+	13	3044	c.2977T>A	c.(2977-2979)Tgc>Agc	p.C993S	SH3TC1_ENST00000539824.1_Missense_Mutation_p.C917S	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	993										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CCAGCGGCTGTGCCACTTCTA	0.642																																					NSCLC(145;2298 2623 35616 37297)	uc003gkv.3																			0				large_intestine(2)|pancreas(1)	3						c.(2977-2979)TGC>AGC		SH3 domain and tetratricopeptide repeats 1							64.0	67.0	66.0					4																	8233729		2203	4300	6503	SO:0001583	missense	54436						binding	g.chr4:8233729T>A	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.2977T>A	4.37:g.8233729T>A	ENSP00000245105:p.Cys993Ser					SH3TC1_uc003gkw.3_Missense_Mutation_p.C917S|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_RNA	p.C993S	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN			13	3078	+			993					Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	c.2977T>A	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	T	17.79	3.475529	0.63737	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.77358	-1.09;-1.08	4.89	4.89	0.63831	Tetratricopeptide-like helical (1);	0.060167	0.64402	D	0.000002	T	0.80449	0.4625	L	0.52126	1.63	0.45150	D	0.998167	P	0.49862	0.929	P	0.53549	0.729	T	0.79759	-0.1668	10	0.37606	T	0.19	-8.8498	14.5583	0.68118	0.0:0.0:0.0:1.0	.	993	Q8TE82	S3TC1_HUMAN	S	731;993;917;822	ENSP00000245105:C993S;ENSP00000441045:C917S	ENSP00000245105:C993S	C	+	1	0	SH3TC1	8284629	1.000000	0.71417	0.993000	0.49108	0.496000	0.33645	2.872000	0.48467	1.853000	0.53794	0.374000	0.22700	TGC		0.642	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986	
CPEB2	132864	broad.mit.edu	37	4	15060838	15060838	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr4:15060838G>A	ENST00000507071.1	+	9	1360	c.1273G>A	c.(1273-1275)Gat>Aat	p.D425N	CPEB2_ENST00000345451.3_Missense_Mutation_p.D395N|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000382401.3_Missense_Mutation_p.D398N|CPEB2_ENST00000442003.2_Missense_Mutation_p.D843N|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000382395.3_Missense_Mutation_p.D403N|CPEB2_ENST00000259997.5_Missense_Mutation_p.D433N|CPEB2_ENST00000538197.1_Missense_Mutation_p.D870N|CPEB2_ENST00000541112.1_Missense_Mutation_p.D862N			Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	425					cellular response to arsenic-containing substance (GO:0071243)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to oxidative stress (GO:0034599)|negative regulation of cytoplasmic translation (GO:2000766)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of GTPase activity (GO:0034260)	cytoplasm (GO:0005737)|messenger ribonucleoprotein complex (GO:1990124)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|ribosome binding (GO:0043022)|translation repressor activity, nucleic acid binding (GO:0000900)	p.D425H(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						GAATTTAAGTGATAGTGATTT	0.373																																						uc003gni.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1273-1275)GAT>AAT		cytoplasmic polyadenylation element binding							110.0	112.0	111.0					4																	15060838		2203	4300	6503	SO:0001583	missense	132864				regulation of translation	cytoplasm	nucleotide binding|RNA binding	g.chr4:15060838G>A	AY247744	CCDS56325.1, CCDS56326.1	4p15.33	2013-02-12			ENSG00000137449	ENSG00000137449		"""RNA binding motif (RRM) containing"""	21745	protein-coding gene	gene with protein product		610605				12672660	Standard	NM_182485		Approved		uc003gnk.2	Q7Z5Q1	OTTHUMG00000090669	ENST00000507071.1:c.1273G>A	4.37:g.15060838G>A	ENSP00000424084:p.Asp425Asn					CPEB2_uc003gnj.1_Missense_Mutation_p.D395N|CPEB2_uc003gnk.1_Missense_Mutation_p.D433N|CPEB2_uc003gnl.1_Missense_Mutation_p.D406N|CPEB2_uc003gnm.1_Missense_Mutation_p.D403N|CPEB2_uc003gnn.1_Missense_Mutation_p.D398N	p.D425N	NM_182485	NP_872291	Q7Z5Q1	CPEB2_HUMAN			9	1360	+			425					E7EPM3|F5H160|Q3B8N6|Q3MI89|Q3MI90|Q3MI92|Q7Z5Q0	Missense_Mutation	SNP	ENST00000507071.1	37	c.1273G>A		.	.	.	.	.	.	.	.	.	.	G	34	5.374778	0.95923	.	.	ENSG00000137449	ENST00000538197;ENST00000541112;ENST00000442003;ENST00000507071;ENST00000345451;ENST00000382395;ENST00000382401;ENST00000259997;ENST00000382391;ENST00000509684	T;T;T;T;T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.49150	0.1540	L	0.49256	1.55	0.80722	D	1	D;D;D;D;D;D	0.89917	0.978;1.0;0.997;0.998;1.0;0.986	D;D;D;D;D;D	0.97110	0.983;0.999;0.999;1.0;0.999;0.982	T	0.42120	-0.9470	10	0.87932	D	0	-19.1322	20.0118	0.97458	0.0:0.0:1.0:0.0	.	398;403;843;870;395;425	Q7Z5Q1-4;Q7Z5Q1-6;E7EPM3;F5H160;Q7Z5Q1-5;Q7Z5Q1	.;.;.;.;.;CPEB2_HUMAN	N	870;862;843;425;395;403;398;433;412;78	ENSP00000443985:D870N;ENSP00000437884:D862N;ENSP00000414270:D843N;ENSP00000424084:D425N;ENSP00000334058:D395N;ENSP00000371832:D403N;ENSP00000371838:D398N;ENSP00000259997:D433N;ENSP00000423890:D78N	ENSP00000259997:D433N	D	+	1	0	CPEB2	14669936	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.733000	0.93635	0.591000	0.81541	GAT		0.373	CPEB2-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000207349.2	XM_059607	
GABRA4	2557	broad.mit.edu	37	4	46979123	46979123	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr4:46979123C>T	ENST00000264318.3	-	5	1514	c.532G>A	c.(532-534)Gat>Aat	p.D178N		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	178					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	ATGGGAAAATCCACCAATCTC	0.333																																					Ovarian(6;283 369 8234 12290 33402)	uc003gxg.2																			0				ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4						c.(532-534)GAT>AAT		gamma-aminobutyric acid A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						58.0	56.0	56.0					4																	46979123		2203	4300	6503	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46979123C>T		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.532G>A	4.37:g.46979123C>T	ENSP00000264318:p.Asp178Asn						p.D178N	NM_000809	NP_000800	P48169	GBRA4_HUMAN			5	671	-			178			Extracellular (Probable).		Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.532G>A	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	C	8.859	0.946500	0.18356	.	.	ENSG00000109158	ENST00000264318	T	0.76839	-1.05	5.31	4.37	0.52481	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.100489	0.64402	D	0.000002	T	0.58438	0.2122	N	0.16478	0.41	0.45227	D	0.998235	B	0.06786	0.001	B	0.15484	0.013	T	0.49952	-0.8884	10	0.10636	T	0.68	.	9.267	0.37647	0.0:0.8258:0.0:0.1742	.	178	P48169	GBRA4_HUMAN	N	178	ENSP00000264318:D178N	ENSP00000264318:D178N	D	-	1	0	GABRA4	46673880	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.646000	0.37249	1.306000	0.44926	0.650000	0.86243	GAT		0.333	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1		
SLC10A4	201780	broad.mit.edu	37	4	48490671	48490671	+	Silent	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr4:48490671C>T	ENST00000273861.4	+	3	1248	c.1029C>T	c.(1027-1029)ctC>ctT	p.L343L	ZAR1_ENST00000327939.4_5'Flank	NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	343						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						ATGTGCAGCTCTGTACAGCCA	0.473																																						uc003gyc.2																			0				central_nervous_system(1)	1						c.(1027-1029)CTC>CTT		solute carrier family 10, member 4							132.0	127.0	128.0					4																	48490671		2203	4300	6503	SO:0001819	synonymous_variant	201780					integral to membrane	bile acid:sodium symporter activity	g.chr4:48490671C>T	BC012048	CCDS3482.1	4p12	2013-07-18	2013-07-18		ENSG00000145248	ENSG00000145248		"""Solute carriers"""	22980	protein-coding gene	gene with protein product							Standard	NM_152679		Approved	MGC29802	uc003gyc.2	Q96EP9	OTTHUMG00000102092	ENST00000273861.4:c.1029C>T	4.37:g.48490671C>T						ZAR1_uc003gyd.2_5'Flank	p.L343L	NM_152679	NP_689892	Q96EP9	NTCP4_HUMAN			3	1248	+			343			Cytoplasmic (Potential).		Q8WUZ2	Silent	SNP	ENST00000273861.4	37	c.1029C>T	CCDS3482.1																																																																																				0.473	SLC10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219926.3	NM_152679	
DNAH5	1767	broad.mit.edu	37	5	13886073	13886073	+	Splice_Site	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr5:13886073C>T	ENST00000265104.4	-	18	2847	c.2743G>A	c.(2743-2745)Gca>Aca	p.A915T	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	915	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CATCTCTTACCTGAACTTTCA	0.289									Kartagener syndrome																													uc003jfd.2																			0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(2743-2745)GCA>ACA		dynein, axonemal, heavy chain 5							128.0	126.0	127.0					5																	13886073		2203	4296	6499	SO:0001630	splice_region_variant	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13886073C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.2743+1G>A	5.37:g.13886073C>T							p.A915T	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			18	2785	-	Lung NSC(4;0.00476)		915			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.2743G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.761272	0.31137	.	.	ENSG00000039139	ENST00000265104	T	0.23552	1.9	5.75	4.87	0.63330	.	1.156550	0.06404	N	0.719383	T	0.27349	0.0671	L	0.40543	1.245	0.28340	N	0.921395	B	0.02656	0.0	B	0.04013	0.001	T	0.31668	-0.9935	9	.	.	.	.	15.5683	0.76313	0.0:0.8617:0.1383:0.0	.	915	Q8TE73	DYH5_HUMAN	T	915	ENSP00000265104:A915T	.	A	-	1	0	DNAH5	13939073	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	4.409000	0.59768	1.432000	0.47375	0.650000	0.86243	GCA		0.289	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	Missense_Mutation
CD14	929	broad.mit.edu	37	5	140012230	140012230	+	Silent	SNP	T	T	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr5:140012230T>A	ENST00000302014.6	-	2	968	c.339A>T	c.(337-339)ctA>ctT	p.L113L	CD14_ENST00000401743.2_Silent_p.L113L	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	113					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|phagocytosis (GO:0006909)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endocytosis (GO:0045807)|positive regulation of tumor necrosis factor production (GO:0032760)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to magnesium ion (GO:0032026)|response to tumor necrosis factor (GO:0034612)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|opsonin receptor activity (GO:0001847)|peptidoglycan receptor activity (GO:0016019)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAGTACGCTAGCACACGCA	0.622																																						uc003lgi.1																			0					0						c.(337-339)CTA>CTT		CD14 antigen precursor							40.0	38.0	39.0					5																	140012230		2199	4298	6497	SO:0001819	synonymous_variant	929				apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity	g.chr5:140012230T>A		CCDS4232.1	5q31.3	2012-09-20	2006-03-28		ENSG00000170458	ENSG00000170458		"""CD molecules"""	1628	protein-coding gene	gene with protein product		158120	"""CD14 antigen"""			2472171, 2462937	Standard	NM_000591		Approved		uc003lgi.2	P08571	OTTHUMG00000129507	ENST00000302014.6:c.339A>T	5.37:g.140012230T>A						CD14_uc003lgj.1_Silent_p.L113L	p.L113L	NM_000591	NP_000582	P08571	CD14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	693	-			113			LRR 2.		Q53XT5|Q96FR6|Q96L99|Q9UNS3	Silent	SNP	ENST00000302014.6	37	c.339A>T	CCDS4232.1																																																																																				0.622	CD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251681.2	NM_000591	
PCDHA1	56147	broad.mit.edu	37	5	140166089	140166089	+	Missense_Mutation	SNP	A	A	G			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr5:140166089A>G	ENST00000504120.2	+	1	214	c.214A>G	c.(214-216)Agg>Ggg	p.R72G	PCDHA1_ENST00000394633.3_Missense_Mutation_p.R72G|PCDHA1_ENST00000378133.3_Missense_Mutation_p.R72G	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	72	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAAACACACAGGGACCTTCT	0.592																																						uc003lhb.2																			0				skin(1)	1						c.(214-216)AGG>GGG		protocadherin alpha 1 isoform 1 precursor							77.0	83.0	81.0					5																	140166089		2203	4300	6503	SO:0001583	missense	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140166089A>G	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.214A>G	5.37:g.140166089A>G	ENSP00000420840:p.Arg72Gly					PCDHA1_uc003lha.2_Missense_Mutation_p.R72G|PCDHA1_uc003lgz.2_Missense_Mutation_p.R72G	p.R72G	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	214	+			72			Cadherin 1.|Extracellular (Potential).		O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.214A>G	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	N	0.015	-1.562820	0.00903	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.28069	1.63;1.63;1.63	4.31	2.01	0.26516	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.161766	0.28901	N	0.013777	T	0.09774	0.0240	N	0.05619	-0.005	0.09310	N	1	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.11329	0.002;0.006;0.001	T	0.31308	-0.9948	10	0.02654	T	1	.	1.9838	0.03432	0.3879:0.0:0.3572:0.2549	.	72;72;72	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	G	72	ENSP00000420840:R72G;ENSP00000378129:R72G;ENSP00000367373:R72G	ENSP00000367373:R72G	R	+	1	2	PCDHA1	140146273	0.007000	0.16637	0.627000	0.29227	0.359000	0.29487	2.215000	0.42862	0.951000	0.37770	-0.137000	0.14449	AGG		0.592	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900	
PCDHA13	56136	broad.mit.edu	37	5	140263838	140263838	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr5:140263838C>T	ENST00000289272.2	+	1	1985	c.1985C>T	c.(1984-1986)aCg>aTg	p.T662M	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.T662M|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	662	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T662M(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGACGGCCACGGCAACGGTG	0.701																																					Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2																			1	Substitution - Missense(1)		biliary_tract(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1984-1986)ACG>ATG		protocadherin alpha 13 isoform 1 precursor							54.0	54.0	54.0					5																	140263838		2202	4298	6500	SO:0001583	missense	56136				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140263838C>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1985C>T	5.37:g.140263838C>T	ENSP00000289272:p.Thr662Met					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.T662M|PCDHA13_uc003lid.2_Missense_Mutation_p.T662M	p.T662M	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1985	+			662			Cadherin 6.|Extracellular (Potential).		O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.1985C>T	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.740770	0.30865	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.57107	0.42;0.42	3.97	3.97	0.46021	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.76870	0.4048	H	0.94542	3.55	0.24954	N	0.991778	D;D;D	0.89917	1.0;0.999;0.999	D;D;P	0.79108	0.966;0.992;0.903	T	0.67757	-0.5588	9	0.72032	D	0.01	.	7.6151	0.28152	0.0:0.7427:0.167:0.0903	.	662;662;662	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	M	662	ENSP00000386821:T662M;ENSP00000289272:T662M	ENSP00000289272:T662M	T	+	2	0	PCDHA13	140244022	1.000000	0.71417	0.985000	0.45067	0.158000	0.22134	6.851000	0.75425	2.025000	0.59659	0.655000	0.94253	ACG		0.701	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904	
TENM2	57451	broad.mit.edu	37	5	167420177	167420177	+	Silent	SNP	G	G	A	rs187245740	byFrequency	TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr5:167420177G>A	ENST00000518659.1	+	5	1215	c.1176G>A	c.(1174-1176)gcG>gcA	p.A392A	TENM2_ENST00000520394.1_Silent_p.A201A|TENM2_ENST00000519204.1_Silent_p.A271A|TENM2_ENST00000545108.1_Silent_p.A392A|TENM2_ENST00000403607.2_Silent_p.A225A	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	392					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										TTTTGCTGGCGTATTTCATAG	0.537													G|||	3	0.000599042	0.0	0.0	5008	,	,		18729	0.003		0.0	False		,,,				2504	0.0					uc010jjd.2																			0				ovary(6)|central_nervous_system(4)	10						c.(1174-1176)GCG>GCA		odz, odd Oz/ten-m homolog 2							35.0	36.0	36.0					5																	167420177		1922	4134	6056	SO:0001819	synonymous_variant	57451							g.chr5:167420177G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.1176G>A	5.37:g.167420177G>A						ODZ2_uc003lzq.2_Silent_p.A271A|ODZ2_uc003lzr.3_Silent_p.A201A	p.A392A	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	5	1176	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Silent	SNP	ENST00000518659.1	37	c.1176G>A																																																																																					0.537	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679	
SLIT3	6586	broad.mit.edu	37	5	168149967	168149967	+	Silent	SNP	G	G	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr5:168149967G>T	ENST00000519560.1	-	22	2801	c.2382C>A	c.(2380-2382)acC>acA	p.T794T	CTC-558O2.1_ENST00000522615.1_RNA|SLIT3_ENST00000332966.8_Silent_p.T794T|SLIT3_ENST00000404867.3_Silent_p.T794T	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	794					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTTACTGAAGGTGTAATTGG	0.478																																					Ovarian(29;311 847 10864 17279 24903)	uc003mab.2																			0				ovary(3)|skin(1)	4						c.(2380-2382)ACC>ACA		slit homolog 3 precursor							367.0	301.0	323.0					5																	168149967		2203	4300	6503	SO:0001819	synonymous_variant	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168149967G>T	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.2382C>A	5.37:g.168149967G>T						SLIT3_uc010jjg.2_Silent_p.T794T	p.T794T	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		22	2802	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	794			LRR 18.		A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	c.2382C>A	CCDS4369.1																																																																																				0.478	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062	
MAS1L	116511	broad.mit.edu	37	6	29455303	29455303	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr6:29455303G>A	ENST00000377127.3	-	1	435	c.377C>T	c.(376-378)tCg>tTg	p.S126L		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	126					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						CCCCACTGCCGAGCAGCAAAG	0.502																																					NSCLC(153;755 1987 3859 11251 32945)	uc011dlq.1																			0				ovary(7)|lung(2)	9						c.(376-378)TCG>TTG		MAS1 oncogene-like							66.0	63.0	64.0					6																	29455303		2203	4300	6503	SO:0001583	missense	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29455303G>A	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.377C>T	6.37:g.29455303G>A	ENSP00000366331:p.Ser126Leu						p.S126L	NM_052967	NP_443199	P35410	MAS1L_HUMAN			1	377	-			126			Helical; Name=2; (Potential).		Q5SUN5	Missense_Mutation	SNP	ENST00000377127.3	37	c.377C>T	CCDS4661.1	.	.	.	.	.	.	.	.	.	.	G	0.645	-0.811723	0.02798	.	.	ENSG00000204687	ENST00000377127	T	0.69306	-0.39	2.42	-4.84	0.03151	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.12390	0.0301	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.12578	-1.0542	9	0.09843	T	0.71	.	0.9546	0.01383	0.3571:0.3219:0.1623:0.1587	.	126	P35410	MAS1L_HUMAN	L	126	ENSP00000366331:S126L	ENSP00000366331:S126L	S	-	2	0	MAS1L	29563282	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.872000	0.01639	-1.863000	0.01150	-1.200000	0.01667	TCG		0.502	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967	
SKIV2L	6499	broad.mit.edu	37	6	31937127	31937127	+	Missense_Mutation	SNP	C	C	T	rs201764098		TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr6:31937127C>T	ENST00000375394.2	+	27	3583	c.3470C>T	c.(3469-3471)aCg>aTg	p.T1157M	STK19_ENST00000375333.2_5'Flank|DXO_ENST00000478221.1_5'Flank|STK19_ENST00000375331.2_5'Flank|SKIV2L_ENST00000544581.1_Missense_Mutation_p.T964M	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	1157					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CTGAACCAGACGGTGGAGGAA	0.557																																						uc003nyn.1																			0				ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						c.(3469-3471)ACG>ATG		superkiller viralicidic activity 2-like homolog		C	MET/THR	7,4399	12.9+/-30.5	0,7,2196	103.0	107.0	106.0		3470	5.3	0.9	6		106	0,8600		0,0,4300	yes	missense	SKIV2L	NM_006929.4	81	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	probably-damaging	1157/1247	31937127	7,12999	2203	4300	6503	SO:0001583	missense	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31937127C>T		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.3470C>T	6.37:g.31937127C>T	ENSP00000364543:p.Thr1157Met					SKIV2L_uc011dou.1_Missense_Mutation_p.T999M|SKIV2L_uc011dov.1_Missense_Mutation_p.T964M|STK19_uc003nyt.2_5'Flank|STK19_uc011dow.1_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.2_5'Flank|STK19_uc003nyw.2_5'Flank|STK19_uc010jtn.1_5'Flank	p.T1157M	NM_006929	NP_008860	Q15477	SKIV2_HUMAN			27	3859	+			1157					O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	37	c.3470C>T	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.515799	0.64634	0.001589	0.0	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.23754	1.89;1.89	5.29	5.29	0.74685	DSH, C-terminal (1);	0.112412	0.64402	D	0.000013	T	0.27063	0.0663	L	0.58510	1.815	0.58432	D	0.999994	D	0.63046	0.992	P	0.50082	0.63	T	0.01452	-1.1351	10	0.42905	T	0.14	-7.1788	17.7168	0.88340	0.0:1.0:0.0:0.0	.	1157	Q15477	SKIV2_HUMAN	M	1157;999;964	ENSP00000364543:T1157M;ENSP00000442645:T964M	ENSP00000364543:T1157M	T	+	2	0	SKIV2L	32045106	1.000000	0.71417	0.930000	0.37139	0.996000	0.88848	6.765000	0.74965	2.460000	0.83146	0.655000	0.94253	ACG		0.557	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3		
NOTCH4	4855	broad.mit.edu	37	6	32165183	32165183	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr6:32165183C>T	ENST00000375023.3	-	27	5083	c.4945G>A	c.(4945-4947)Gct>Act	p.A1649T	NOTCH4_ENST00000443903.2_Missense_Mutation_p.A58T|GPSM3_ENST00000375043.3_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1649					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CGGCGGGCAGCGGTTGGCCGG	0.697																																						uc003obb.2																			0				lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						c.(4945-4947)GCT>ACT		notch4 preproprotein							26.0	32.0	30.0					6																	32165183		2200	4296	6496	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32165183C>T		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.4945G>A	6.37:g.32165183C>T	ENSP00000364163:p.Ala1649Thr					GPSM3_uc003oaz.2_5'Flank|NOTCH4_uc011dpt.1_Missense_Mutation_p.A58T|NOTCH4_uc003oba.2_Missense_Mutation_p.A309T|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc011dpw.1_Missense_Mutation_p.A58T	p.A1649T	NM_004557	NP_004548	Q99466	NOTC4_HUMAN			27	5084	-			1649			Cytoplasmic (Potential).|ANK 1.		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.4945G>A	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541570	0.65085	.	.	ENSG00000204301	ENST00000375023;ENST00000443903	T;T	0.65732	-0.17;-0.17	4.29	3.41	0.39046	Ankyrin repeat-containing domain (4);	0.170695	0.27917	N	0.017340	T	0.26340	0.0643	N	0.13327	0.33	0.51767	D	0.99993	B;B;B;P	0.35714	0.312;0.312;0.072;0.517	B;B;B;B	0.32583	0.095;0.148;0.026;0.118	T	0.25950	-1.0117	10	0.66056	D	0.02	.	10.1602	0.42847	0.0:0.8997:0.0:0.1003	.	58;58;1649;1648	B4DEL8;B4DFM3;Q99466;B0S882	.;.;NOTC4_HUMAN;.	T	1649;58	ENSP00000364163:A1649T;ENSP00000398123:A58T	ENSP00000364163:A1649T	A	-	1	0	NOTCH4	32273161	1.000000	0.71417	0.935000	0.37517	0.968000	0.65278	4.699000	0.61796	1.010000	0.39314	0.561000	0.74099	GCT		0.697	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2		
CD164	8763	broad.mit.edu	37	6	109690088	109690088	+	Missense_Mutation	SNP	C	C	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr6:109690088C>A	ENST00000310786.4	-	6	625	c.560G>T	c.(559-561)tGc>tTc	p.C187F	CD164_ENST00000504373.1_Missense_Mutation_p.C153F|CD164_ENST00000506649.1_5'UTR|CD164_ENST00000324953.5_Missense_Mutation_p.C168F|CD164_ENST00000368961.5_Missense_Mutation_p.C155F|CD164_ENST00000275080.7_Missense_Mutation_p.C174F|CD164_ENST00000512821.1_Intron|CD164_ENST00000413644.2_Intron	NM_001142404.1|NM_006016.4	NP_001135876.1|NP_006007.2	Q04900	MUC24_HUMAN	CD164 molecule, sialomucin	187					cell adhesion (GO:0007155)|hemopoiesis (GO:0030097)|heterophilic cell-cell adhesion (GO:0007157)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(1)|lung(2)	3		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)		TTTAGATTTGCAGAATTTATA	0.383																																						uc003pte.2																			0					0						c.(559-561)TGC>TTC		CD164 molecule, sialomucin isoform 1							67.0	65.0	66.0					6																	109690088		2203	4300	6503	SO:0001583	missense	8763				hemopoiesis|heterophilic cell-cell adhesion|immune response|muscle organ development|negative regulation of cell adhesion|negative regulation of cell proliferation|signal transduction	endosome membrane|extracellular region|integral to plasma membrane|lysosomal membrane	protein binding	g.chr6:109690088C>A	AF106518	CCDS5073.1, CCDS47462.1, CCDS47463.1, CCDS47464.1, CCDS47465.1	6q21	2014-09-05	2006-03-28		ENSG00000135535	ENSG00000135535		"""CD molecules"""	1632	protein-coding gene	gene with protein product		603356	"""CD164 antigen, sialomucin"""			9680353, 9763543	Standard	NM_006016		Approved	MUC-24, MGC-24	uc003pte.3	Q04900	OTTHUMG00000015339	ENST00000310786.4:c.560G>T	6.37:g.109690088C>A	ENSP00000309376:p.Cys187Phe					CD164_uc003ptd.2_Intron|CD164_uc003ptf.2_Missense_Mutation_p.C168F|CD164_uc011eap.1_Intron|CD164_uc010kdn.2_Missense_Mutation_p.C174F	p.C187F	NM_006016	NP_006007	Q04900	MUC24_HUMAN		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)	6	741	-		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)	187			Cytoplasmic (Potential).		B4DQ85|E1P5E7|E1P5E8|E1P5E9|O95413|Q5JSU6|Q9BPV0|Q9NR26	Missense_Mutation	SNP	ENST00000310786.4	37	c.560G>T	CCDS5073.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.065234	0.76187	.	.	ENSG00000135535	ENST00000368961;ENST00000324953;ENST00000310786;ENST00000275080;ENST00000504373	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68	5.93	5.93	0.95920	.	0.054264	0.85682	D	0.000000	T	0.62563	0.2438	M	0.68317	2.08	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.988;0.988;0.993	T	0.54964	-0.8214	10	0.34782	T	0.22	-4.1041	20.3409	0.98764	0.0:1.0:0.0:0.0	.	174;168;187	Q04900-3;Q04900-4;Q04900	.;.;MUC24_HUMAN	F	155;168;187;174;153	ENSP00000357957:C155F;ENSP00000314177:C168F;ENSP00000309376:C187F;ENSP00000275080:C174F;ENSP00000422999:C153F	ENSP00000275080:C174F	C	-	2	0	CD164	109796781	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.154000	0.77437	2.814000	0.96858	0.655000	0.94253	TGC		0.383	CD164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041742.1	NM_006016	
ROS1	6098	broad.mit.edu	37	6	117686282	117686282	+	Frame_Shift_Del	DEL	G	G	-			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr6:117686282delG	ENST00000368508.3	-	20	3257	c.3059delC	c.(3058-3060)cctfs	p.P1020fs	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Frame_Shift_Del_p.P1015fs	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1020	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GTAGGTATAAGGAGTGACAGA	0.393			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		0				lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(3058-3060)CCTfs		proto-oncogene c-ros-1 protein precursor							91.0	91.0	91.0					6																	117686282		2203	4300	6503	SO:0001589	frameshift_variant	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117686282delG	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.3059delC	6.37:g.117686282delG	ENSP00000357494:p.Pro1020fs					ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	p.P1020fs	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	20	3258	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1020			Fibronectin type-III 4.|Extracellular (Potential).		Q15368|Q5TDB5	Frame_Shift_Del	DEL	ENST00000368508.3	37	c.3059delC	CCDS5116.1																																																																																				0.393	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1		
LFNG	3955	broad.mit.edu	37	7	2559902	2559902	+	Frame_Shift_Del	DEL	C	C	-			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr7:2559902delC	ENST00000222725.5	+	1	427	c.407delC	c.(406-408)accfs	p.T136fs	LFNG_ENST00000338732.3_Intron|LFNG_ENST00000402045.1_Intron|LFNG_ENST00000402506.1_Intron|LFNG_ENST00000359574.3_Frame_Shift_Del_p.T136fs	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	136					compartment pattern specification (GO:0007386)|female meiotic division (GO:0007143)|metabolic process (GO:0008152)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|ovarian follicle development (GO:0001541)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)|regulation of Notch signaling pathway (GO:0008593)|regulation of somitogenesis (GO:0014807)|somitogenesis (GO:0001756)	extracellular region (GO:0005576)|integral component of Golgi membrane (GO:0030173)|vesicle (GO:0031982)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		CTGCTGGAGACCTGGATCTCG	0.706																																						uc003smf.2																			0					0						c.(406-408)ACCfs		lunatic fringe isoform a							18.0	23.0	21.0					7																	2559902		2045	4148	6193	SO:0001589	frameshift_variant	3955				organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	g.chr7:2559902delC	BC014851	CCDS34586.1, CCDS34587.1, CCDS55081.1, CCDS55082.1	7p22.3	2013-02-19	2006-11-13		ENSG00000106003	ENSG00000106003	2.4.1.222	"""Beta 3-glycosyltransferases"""	6560	protein-coding gene	gene with protein product		602576	"""lunatic fringe (Drosophila) homolog"", ""lunatic fringe homolog (Drosophila)"""			9878264, 9187150	Standard	NM_001166355		Approved	SCDO3	uc003smf.3	Q8NES3	OTTHUMG00000152043	ENST00000222725.5:c.407delC	7.37:g.2559902delC	ENSP00000222725:p.Thr136fs					LFNG_uc003smg.2_Frame_Shift_Del_p.T136fs	p.T136fs	NM_001040167	NP_001035257	Q8NES3	LFNG_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)	1	424	+		Ovarian(82;0.0112)	136			Lumenal (Potential).		B3KTY6|B5MCR5|O00589|Q96C39|Q9UJW5	Frame_Shift_Del	DEL	ENST00000222725.5	37	c.407delC	CCDS34587.1																																																																																				0.706	LFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325021.1	NM_002304	
DYNC1I1	1780	broad.mit.edu	37	7	95664970	95664970	+	Missense_Mutation	SNP	G	G	A	rs375862083		TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr7:95664970G>A	ENST00000324972.6	+	13	1514	c.1321G>A	c.(1321-1323)Gct>Act	p.A441T	DYNC1I1_ENST00000359388.4_Missense_Mutation_p.A404T|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.A421T|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.A424T|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.A424T|DYNC1I1_ENST00000497626.1_3'UTR|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.A404T	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	441					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CAAGCCTGTCGCTGTTACCGG	0.498																																						uc003uoc.3																			0				ovary(3)|kidney(1)	4						c.(1321-1323)GCT>ACT		dynein, cytoplasmic 1, intermediate chain 1							270.0	213.0	232.0					7																	95664970		2203	4300	6503	SO:0001583	missense	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95664970G>A	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1321G>A	7.37:g.95664970G>A	ENSP00000320130:p.Ala441Thr					DYNC1I1_uc003uod.3_Missense_Mutation_p.A424T|DYNC1I1_uc003uob.2_Missense_Mutation_p.A404T|DYNC1I1_uc003uoe.3_Missense_Mutation_p.A421T|DYNC1I1_uc010lfl.2_Missense_Mutation_p.A430T	p.A441T	NM_004411	NP_004402	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		13	1598	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		441			WD 4.		B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	37	c.1321G>A	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.596813	0.66332	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	5.1	5.1	0.69264	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.85665	0.5749	M	0.72118	2.19	0.80722	D	1	D;D;D;P;D	0.64830	0.99;0.994;0.994;0.941;0.969	P;P;P;P;P	0.58331	0.691;0.837;0.837;0.59;0.509	D	0.85285	0.1064	10	0.46703	T	0.11	-1.7926	19.0933	0.93238	0.0:0.0:1.0:0.0	.	424;421;424;441;404	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	T	424;441;404;421;404;424	ENSP00000392337:A424T;ENSP00000320130:A441T;ENSP00000438377:A404T;ENSP00000398118:A421T;ENSP00000352348:A404T;ENSP00000412444:A424T	ENSP00000320130:A441T	A	+	1	0	DYNC1I1	95502906	1.000000	0.71417	0.997000	0.53966	0.094000	0.18550	9.657000	0.98554	2.830000	0.97506	0.585000	0.79938	GCT		0.498	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411	
RBM28	55131	broad.mit.edu	37	7	127964701	127964701	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr7:127964701G>A	ENST00000223073.2	-	12	1364	c.1250C>T	c.(1249-1251)gCg>gTg	p.A417V	RBM28_ENST00000415472.2_Missense_Mutation_p.A276V	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	417	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						ACGGGTCACCGCCAAGTCAAC	0.552																																						uc003vmp.2																			0				ovary(2)	2						c.(1249-1251)GCG>GTG		RNA binding motif protein 28							161.0	166.0	164.0					7																	127964701		2203	4300	6503	SO:0001583	missense	55131				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	g.chr7:127964701G>A	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"""RNA binding motif (RRM) containing"""	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.1250C>T	7.37:g.127964701G>A	ENSP00000223073:p.Ala417Val					RBM28_uc003vmo.2_Missense_Mutation_p.A34V|RBM28_uc011koj.1_Missense_Mutation_p.A276V|RBM28_uc011kok.1_Missense_Mutation_p.A364V	p.A417V	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN			12	1365	-			417			RRM 3.		A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	ENST00000223073.2	37	c.1250C>T	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	G	35	5.490769	0.96339	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	T;T	0.80566	-1.39;-1.39	6.17	6.17	0.99709	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.104763	0.64402	D	0.000004	D	0.90120	0.6913	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.986;0.999	D	0.90475	0.4456	10	0.87932	D	0	-12.3433	16.3795	0.83443	0.0:0.0:1.0:0.0	.	276;417;276	E9PDD9;Q9NW13;B4DU52	.;RBM28_HUMAN;.	V	417;276	ENSP00000223073:A417V;ENSP00000390517:A276V	ENSP00000223073:A417V	A	-	2	0	RBM28	127751937	1.000000	0.71417	0.990000	0.47175	0.965000	0.64279	7.764000	0.85297	2.941000	0.99782	0.655000	0.94253	GCG		0.552	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077	
AHCYL2	23382	broad.mit.edu	37	7	129040182	129040182	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr7:129040182G>A	ENST00000325006.3	+	6	929	c.875G>A	c.(874-876)tGt>tAt	p.C292Y	AHCYL2_ENST00000474594.1_Missense_Mutation_p.C189Y|AHCYL2_ENST00000490911.1_Missense_Mutation_p.C189Y|AHCYL2_ENST00000446212.1_Missense_Mutation_p.C190Y|AHCYL2_ENST00000446544.2_Missense_Mutation_p.C291Y|AHCYL2_ENST00000531335.2_Missense_Mutation_p.C211Y	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	292					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						TTTTGGTGGTGTATCGATAGA	0.463																																					Pancreas(160;1736 1964 29875 40941 45605)	uc011kov.1																			0				ovary(2)	2						c.(874-876)TGT>TAT		S-adenosylhomocysteine hydrolase-like 2 isoform							195.0	189.0	191.0					7																	129040182		2203	4300	6503	SO:0001583	missense	23382				one-carbon metabolic process		adenosylhomocysteinase activity	g.chr7:129040182G>A	AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"""S-adenosylhomocysteine hydrolase-like 2"""				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.875G>A	7.37:g.129040182G>A	ENSP00000315931:p.Cys292Tyr					AHCYL2_uc003vot.2_Missense_Mutation_p.C291Y|AHCYL2_uc003vov.2_Missense_Mutation_p.C189Y|AHCYL2_uc011kow.1_Missense_Mutation_p.C190Y|AHCYL2_uc011kox.1_Missense_Mutation_p.C189Y	p.C292Y	NM_015328	NP_056143	Q96HN2	SAHH3_HUMAN			6	929	+			292					B4DIZ5|D9N155|O94917	Missense_Mutation	SNP	ENST00000325006.3	37	c.875G>A	CCDS5812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.4|24.4	4.532750|4.532750	0.85812|0.85812	.|.	.|.	ENSG00000158467|ENSG00000158467	ENST00000325006;ENST00000446544;ENST00000531335;ENST00000474594;ENST00000446212;ENST00000490911|ENST00000466924	T;T;T;T;T;T|.	0.78003|.	-1.14;-1.14;-1.14;-1.14;-1.14;-1.14|.	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74596|0.74596	0.3737|0.3737	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.91635|.	0.997;0.997;0.999;0.997;0.998|.	T|T	0.74639|0.74639	-0.3598|-0.3598	10|5	0.54805|.	T|.	0.06|.	-3.7108|-3.7108	17.128|17.128	0.86719|0.86719	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	189;190;292;189;291|.	B4DIZ5;D7UEQ7;Q96HN2;D9N155;Q96HN2-2|.	.;.;SAHH3_HUMAN;.;.|.	Y|I	292;291;211;189;190;189|199	ENSP00000315931:C292Y;ENSP00000413639:C291Y;ENSP00000431787:C211Y;ENSP00000420459:C189Y;ENSP00000405267:C190Y;ENSP00000420801:C189Y|.	ENSP00000315931:C292Y|.	C|V	+|+	2|1	0|0	AHCYL2|AHCYL2	128827418|128827418	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	9.384000|9.384000	0.97219|0.97219	2.446000|2.446000	0.82766|0.82766	0.563000|0.563000	0.77884|0.77884	TGT|GTA		0.463	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354065.1		
DPP6	1804	broad.mit.edu	37	7	154561187	154561187	+	Missense_Mutation	SNP	A	A	G			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr7:154561187A>G	ENST00000377770.3	+	9	1085	c.944A>G	c.(943-945)tAc>tGc	p.Y315C	DPP6_ENST00000427557.1_Missense_Mutation_p.Y208C|DPP6_ENST00000332007.3_Missense_Mutation_p.Y253C|DPP6_ENST00000404039.1_Missense_Mutation_p.Y251C			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	315					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			AGACTCGCCTACGCCGCCATC	0.527																																					NSCLC(125;1384 1783 2490 7422 34254)	uc003wlk.2																			0				pancreas(3)|breast(1)	4						c.(943-945)TAC>TGC		dipeptidyl-peptidase 6 isoform 1							76.0	79.0	78.0					7																	154561187		2027	4171	6198	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154561187A>G	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.944A>G	7.37:g.154561187A>G	ENSP00000367001:p.Tyr315Cys					DPP6_uc003wli.2_Missense_Mutation_p.Y251C|DPP6_uc003wlm.2_Missense_Mutation_p.Y253C|DPP6_uc011kvq.1_Missense_Mutation_p.Y208C	p.Y315C	NM_130797	NP_570629	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		9	1073	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	315			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000377770.3	37	c.944A>G		.	.	.	.	.	.	.	.	.	.	A	17.14	3.313347	0.60414	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.28	5.28	0.74379	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72439	0.3460	M	0.92317	3.295	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.992;1.0;0.998;0.998	T	0.80527	-0.1343	10	0.87932	D	0	-23.7512	15.231	0.73386	1.0:0.0:0.0:0.0	.	208;253;315;251	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	C	251;315;253;208	ENSP00000385578:Y251C;ENSP00000367001:Y315C;ENSP00000328226:Y253C;ENSP00000397303:Y208C	ENSP00000328226:Y253C	Y	+	2	0	DPP6	154192120	1.000000	0.71417	0.991000	0.47740	0.174000	0.22865	8.953000	0.93041	2.000000	0.58554	0.533000	0.62120	TAC		0.527	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797	
ZFAT	57623	broad.mit.edu	37	8	135622736	135622736	+	Nonsense_Mutation	SNP	A	A	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr8:135622736A>T	ENST00000377838.3	-	4	785	c.611T>A	c.(610-612)tTa>tAa	p.L204*	ZFAT_ENST00000429442.2_Nonsense_Mutation_p.L192*|ZFAT_ENST00000523399.1_Intron|ZFAT_ENST00000520214.1_Nonsense_Mutation_p.L192*|ZFAT_ENST00000520727.1_Nonsense_Mutation_p.L192*|ZFAT_ENST00000520356.1_Nonsense_Mutation_p.L192*	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	204					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GTGTGCAGTTAAAACCACACT	0.502																																						uc003yup.2																			0				central_nervous_system(1)	1						c.(610-612)TTA>TAA		zinc finger protein 406 isoform ZFAT-1							88.0	87.0	87.0					8																	135622736		1959	4128	6087	SO:0001587	stop_gained	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135622736A>T	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.611T>A	8.37:g.135622736A>T	ENSP00000367069:p.Leu204*					ZFAT_uc003yun.2_Nonsense_Mutation_p.L192*|ZFAT_uc003yuo.2_Nonsense_Mutation_p.L192*|ZFAT_uc010meh.2_Nonsense_Mutation_p.L192*|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Nonsense_Mutation_p.L192*|ZFAT_uc010mej.2_Intron|ZFAT_uc003yur.2_Nonsense_Mutation_p.L192*	p.L204*	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		4	786	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		204					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Nonsense_Mutation	SNP	ENST00000377838.3	37	c.611T>A	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	A	38	6.708340	0.97780	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000398946;ENST00000522257	.	.	.	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.1603	14.5371	0.67969	1.0:0.0:0.0:0.0	.	.	.	.	X	192;192;192;204;192;192;192;142	.	ENSP00000326997:L192X	L	-	2	0	ZFAT	135691918	1.000000	0.71417	0.987000	0.45799	0.990000	0.78478	6.954000	0.76001	2.021000	0.59480	0.533000	0.62120	TTA		0.502	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939	
MORN5	254956	broad.mit.edu	37	9	124936831	124936831	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr9:124936831G>A	ENST00000373764.3	+	4	426	c.364G>A	c.(364-366)Gat>Aat	p.D122N	MORN5_ENST00000486801.1_3'UTR|MORN5_ENST00000536616.1_Missense_Mutation_p.D122N	NM_198469.2	NP_940871.2	Q5VZ52	MORN5_HUMAN	MORN repeat containing 5	122										endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						GGGCTATTACGATTGTGGAGA	0.463																																						uc004blw.2																			0					0						c.(364-366)GAT>AAT		MORN repeat containing 5							104.0	100.0	101.0					9																	124936831		2203	4300	6503	SO:0001583	missense	254956							g.chr9:124936831G>A	AK128877	CCDS6836.1, CCDS75894.1	9q34.11	2008-06-23	2008-06-23	2008-06-23	ENSG00000185681	ENSG00000185681			17841	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 113"", ""chromosome 9 open reading frame 18"""	C9orf113, C9orf18			Standard	XM_005251878		Approved	FLJ46909	uc004blw.2	Q5VZ52	OTTHUMG00000020599	ENST00000373764.3:c.364G>A	9.37:g.124936831G>A	ENSP00000362869:p.Asp122Asn					MORN5_uc011lyn.1_Missense_Mutation_p.D122N|MORN5_uc011lyo.1_Silent_p.T84T	p.D122N	NM_198469	NP_940871	Q5VZ52	MORN5_HUMAN			4	426	+			122					B7Z7I5|Q6ZQN1	Missense_Mutation	SNP	ENST00000373764.3	37	c.364G>A	CCDS6836.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317032	0.81469	.	.	ENSG00000185681	ENST00000373764;ENST00000536616;ENST00000418632	T;T;T	0.51817	0.98;0.88;0.69	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.72495	0.3467	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.68192	0.956;0.936	T	0.75485	-0.3301	10	0.51188	T	0.08	-11.3685	17.2786	0.87122	0.0:0.0:1.0:0.0	.	122;122	B7Z7I5;Q5VZ52	.;MORN5_HUMAN	N	122;122;106	ENSP00000362869:D122N;ENSP00000437483:D122N;ENSP00000409949:D106N	ENSP00000362869:D122N	D	+	1	0	MORN5	123976652	1.000000	0.71417	0.615000	0.29064	0.389000	0.30415	8.054000	0.89451	2.672000	0.90937	0.650000	0.86243	GAT		0.463	MORN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053910.2	NM_198469	
XKRX	402415	broad.mit.edu	37	X	100169504	100169504	+	Silent	SNP	A	A	G			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chrX:100169504A>G	ENST00000372956.2	-	3	1777	c.1173T>C	c.(1171-1173)taT>taC	p.Y391Y	XKRX_ENST00000328526.5_Silent_p.Y404Y|XKRX_ENST00000468904.1_3'UTR			Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	391						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						TGGAAATCAGATAAGCAATAA	0.403																																						uc004egn.2																			0				breast(1)	1						c.(1171-1173)TAT>TAC		XK, Kell blood group complex subunit-related,							182.0	149.0	161.0					X																	100169504		2203	4300	6503	SO:0001819	synonymous_variant	402415					integral to membrane|plasma membrane		g.chrX:100169504A>G	AY589511	CCDS14476.1, CCDS14476.2	Xq22	2008-02-05	2006-01-12		ENSG00000182489	ENSG00000182489			29845	protein-coding gene	gene with protein product		300684	"""X Kell blood group precursor-related, X-linked"""				Standard	NM_212559		Approved	XPLAC, XKR2	uc004egn.2	Q6PP77	OTTHUMG00000022010	ENST00000372956.2:c.1173T>C	X.37:g.100169504A>G						XKRX_uc011mre.1_Silent_p.Y187Y	p.Y391Y	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN			3	1778	-			391			Helical; (Potential).		B2RNN6|B4DKU2|Q5H9J6	Silent	SNP	ENST00000372956.2	37	c.1173T>C	CCDS14476.2																																																																																				0.403	XKRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057501.3	NM_212559	
SLITRK4	139065	broad.mit.edu	37	X	142718880	142718880	+	Silent	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chrX:142718880C>T	ENST00000381779.4	-	2	270	c.45G>A	c.(43-45)tcG>tcA	p.S15S	SLITRK4_ENST00000338017.4_Silent_p.S15S|SLITRK4_ENST00000356928.1_Silent_p.S15S	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	15						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCATTTGTCGAAGAAATCA	0.388																																						uc004fbx.2																			0				upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(43-45)TCG>TCA		slit and trk like 4 protein precursor							49.0	46.0	47.0					X																	142718880		2203	4299	6502	SO:0001819	synonymous_variant	139065					integral to membrane		g.chrX:142718880C>T	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.45G>A	X.37:g.142718880C>T						SLITRK4_uc004fby.2_Silent_p.S15S	p.S15S	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN			2	421	-	Acute lymphoblastic leukemia(192;6.56e-05)		15					Q5JXG3|Q8TCM8|Q96DL3	Silent	SNP	ENST00000381779.4	37	c.45G>A	CCDS14679.1																																																																																				0.388	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078	
