#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
KDR	3791	broad.mit.edu	37	4	55946268	55946268	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr4:55946268C>T	ENST00000263923.4	-	30	4206	c.3911G>A	c.(3910-3912)gGc>gAc	p.G1304D	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1304					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGACTGGTAGCCGCTTGTCTG	0.507			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"""NSCLC, angiosarcoma"""		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(3910-3912)gGc>gAc		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						168.0	161.0	164.0					4																	55946268		2203	4300	6503	SO:0001583	missense	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55946268C>T	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3911G>A	4.37:g.55946268C>T	ENSP00000263923:p.Gly1304Asp	TSP Lung(20;0.16)				RP11-530I17.1_ENST00000511222.1_RNA	p.G1304D	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		30	4206	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		1304					A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.3911G>A	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.323543	0.41096	.	.	ENSG00000128052	ENST00000263923	T	0.76060	-0.99	5.62	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.62744	0.2453	L	0.33245	0.995	0.80722	D	1	P	0.49783	0.928	B	0.42343	0.384	T	0.60367	-0.7277	10	0.27785	T	0.31	.	10.732	0.46102	0.0:0.8549:0.0:0.1451	.	1304	P35968	VGFR2_HUMAN	D	1304	ENSP00000263923:G1304D	ENSP00000263923:G1304D	G	-	2	0	KDR	55641025	1.000000	0.71417	0.994000	0.49952	0.767000	0.43475	4.685000	0.61693	1.395000	0.46643	0.650000	0.86243	GGC		0.507	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			5	111	0	0	0	0.248553	0	5	111				
CRYBB3	1417	broad.mit.edu	37	22	25599797	25599797	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr22:25599797C>T	ENST00000215855.2	+	4	342	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C	CRYBB3_ENST00000404334.1_Missense_Mutation_p.R88C	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	88	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(2)|lung(2)|prostate(1)	5						GGATTATCCTCGCTGGGATGC	0.577																																						ENST00000215855.2																			0				large_intestine(2)|lung(2)|prostate(1)	5						c.(262-264)Cgc>Tgc		crystallin, beta B3							169.0	166.0	167.0					22																	25599797		2203	4300	6503	SO:0001583	missense	1417				visual perception		protein binding|structural constituent of eye lens	g.chr22:25599797C>T		CCDS13830.1	22q11.23	2008-06-10			ENSG00000100053	ENSG00000100053			2400	protein-coding gene	gene with protein product		123630		CRYB3		8999933	Standard	NM_004076		Approved		uc003abo.2	P26998	OTTHUMG00000150869	ENST00000215855.2:c.262C>T	22.37:g.25599797C>T	ENSP00000215855:p.Arg88Cys					CRYBB3_ENST00000404334.1_Missense_Mutation_p.R88C	p.R88C	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN			4	342	+			88			Beta/gamma crystallin 'Greek key' 2.		Q3B7S9|Q3T1B7|Q6ISK6|Q92965|Q9UH09	Missense_Mutation	SNP	ENST00000215855.2	37	c.262C>T	CCDS13830.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771975	0.69992	.	.	ENSG00000100053	ENST00000215855;ENST00000404334	T;T	0.76709	-1.04;-1.04	4.52	3.39	0.38822	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.056276	0.64402	D	0.000001	D	0.83547	0.5278	L	0.49640	1.575	0.58432	D	0.999999	D	0.89917	1.0	D	0.73380	0.98	D	0.85515	0.1200	10	0.72032	D	0.01	.	13.9105	0.63864	0.1632:0.8368:0.0:0.0	.	88	P26998	CRBB3_HUMAN	C	88	ENSP00000215855:R88C;ENSP00000386123:R88C	ENSP00000215855:R88C	R	+	1	0	CRYBB3	23929797	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	4.385000	0.59613	2.048000	0.60808	0.471000	0.43371	CGC		0.577	CRYBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320352.1	NM_004076		33	193	0	0	0	0.812448	0	33	193				
LAMA2	3908	broad.mit.edu	37	6	129824263	129824263	+	Silent	SNP	C	C	T	rs142445491		TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr6:129824263C>T	ENST00000421865.2	+	60	8434	c.8385C>T	c.(8383-8385)acC>acT	p.T2795T		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2795	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AAGTAAGAACCGAAGCTGAAT	0.403																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(8383-8385)acC>acT		laminin, alpha 2		C	,	1,4405	2.1+/-5.4	0,1,2202	128.0	113.0	118.0		8385,8373	-11.9	0.1	6	dbSNP_134	118	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	LAMA2	NM_000426.3,NM_001079823.1	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	2795/3123,2791/3119	129824263	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129824263C>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.8385C>T	6.37:g.129824263C>T							p.T2795T	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	60	8434	+			2795			Laminin G-like 4.		Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	c.8385C>T	CCDS5138.1																																																																																				0.403	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			13	80	0	0	0	0.500413	0	13	80				
GPR112	139378	broad.mit.edu	37	X	135485423	135485423	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chrX:135485423G>A	ENST00000394143.1	+	22	8887	c.8596G>A	c.(8596-8598)Gca>Aca	p.A2866T	GPR112_ENST00000412101.1_Missense_Mutation_p.A2661T|GPR112_ENST00000287534.4_Missense_Mutation_p.A2619T|GPR112_ENST00000394141.1_Missense_Mutation_p.A2661T|GPR112_ENST00000370652.1_Missense_Mutation_p.A2866T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2866					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A2866T(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TATCATGGTGGCAATCACAGT	0.488																																						ENST00000394143.1																			1	Substitution - Missense(1)	p.A2866T(1)	kidney(1)	NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(8596-8598)Gca>Aca		G protein-coupled receptor 112							135.0	96.0	109.0					X																	135485423		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135485423G>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.8596G>A	X.37:g.135485423G>A	ENSP00000377699:p.Ala2866Thr					GPR112_ENST00000287534.4_Missense_Mutation_p.A2619T|GPR112_ENST00000412101.1_Missense_Mutation_p.A2661T|GPR112_ENST00000394141.1_Missense_Mutation_p.A2661T|GPR112_ENST00000370652.1_Missense_Mutation_p.A2866T	p.A2866T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			22	8887	+	Acute lymphoblastic leukemia(192;0.000127)		2866					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.8596G>A	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.719336	0.30503	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21	5.67	4.72	0.59763	GPCR, family 2-like (1);	.	.	.	.	T	0.32941	0.0846	L	0.37561	1.115	0.21897	N	0.999482	B;B	0.22146	0.065;0.026	B;B	0.29353	0.046;0.101	T	0.31833	-0.9929	9	0.66056	D	0.02	.	11.4207	0.49980	0.0965:0.0:0.9035:0.0	.	2661;2866	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	T	2866;2866;2661;2619;2661	ENSP00000377699:A2866T;ENSP00000359686:A2866T;ENSP00000416526:A2661T;ENSP00000287534:A2619T;ENSP00000377697:A2661T	ENSP00000287534:A2619T	A	+	1	0	GPR112	135313089	1.000000	0.71417	0.498000	0.27564	0.602000	0.36980	3.934000	0.56553	1.108000	0.41662	0.600000	0.82982	GCA		0.488	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			3	24	0	0	0	0.150653	0	3	24				
ANKFN1	162282	broad.mit.edu	37	17	54558083	54558083	+	Silent	SNP	G	G	A			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr17:54558083G>A	ENST00000318698.2	+	16	2039	c.2004G>A	c.(2002-2004)gtG>gtA	p.V668V	ANKFN1_ENST00000566473.2_Silent_p.V668V	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	668										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TGGAAAGTGTGGATCATACTT	0.413																																						ENST00000566473.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						c.(2002-2004)gtG>gtA		ankyrin-repeat and fibronectin type III domain containing 1							183.0	172.0	175.0					17																	54558083		2203	4300	6503	SO:0001819	synonymous_variant	162282							g.chr17:54558083G>A	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.2004G>A	17.37:g.54558083G>A						ANKFN1_ENST00000318698.2_Silent_p.V668V	p.V668V			Q8N957	ANKF1_HUMAN			16	2004	+			668						Silent	SNP	ENST00000318698.2	37	c.2004G>A	CCDS32686.1																																																																																				0.413	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		13	116	0	0	0	0.435327	0	13	116				
CLTC	1213	broad.mit.edu	37	17	57733350	57733350	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr17:57733350G>A	ENST00000269122.3	+	6	1205	c.931G>A	c.(931-933)Gcc>Acc	p.A311T	CLTC_ENST00000393043.1_Missense_Mutation_p.A311T|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	311	Globular terminal domain.|WD40-like repeat 7.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)	p.A311S(1)	CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ACCTCATGAAGCCACAGCTGG	0.378			T	"""ALK, TFE3"""	"""ALCL, renal """																																	ENST00000269122.3				Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	"""ALK, TFE3"""		"""ALCL, renal """	CLTC/ALK(44)|CLTC/TFE3(2)	1	Substitution - Missense(1)	p.A311S(1)	lung(1)	breast(2)|large_intestine(6)|ovary(1)	9						c.(931-933)Gcc>Acc		clathrin, heavy chain (Hc)							115.0	114.0	115.0					17																	57733350		2203	4300	6503	SO:0001583	missense	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57733350G>A	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.931G>A	17.37:g.57733350G>A	ENSP00000269122:p.Ala311Thr					CLTC_ENST00000393043.1_Missense_Mutation_p.A311T|CLTC_ENST00000579456.1_Intron	p.A311T	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN			6	1205	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		311			Globular terminal domain.		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	c.931G>A	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140713	0.56936	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.22134	1.97;1.97	5.73	5.73	0.89815	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.049421	0.85682	D	0.000000	T	0.26846	0.0657	L	0.55481	1.735	0.80722	D	1	B;B	0.18968	0.032;0.0	B;B	0.25140	0.058;0.012	T	0.02766	-1.1113	10	0.30078	T	0.28	.	19.9019	0.96988	0.0:0.0:1.0:0.0	.	311;311	Q00610;Q00610-2	CLH1_HUMAN;.	T	311	ENSP00000269122:A311T;ENSP00000376763:A311T	ENSP00000269122:A311T	A	+	1	0	CLTC	55088132	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.795000	0.62489	2.698000	0.92095	0.591000	0.81541	GCC		0.378	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		15	51	0	0	0	0.479597	0	15	51				
MYEOV2	150678	broad.mit.edu	37	2	241066272	241066272	+	Missense_Mutation	SNP	A	A	G	rs142104600		TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr2:241066272A>G	ENST00000307266.3	-	5	466	c.467T>C	c.(466-468)aTg>aCg	p.M156T		NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TCTGGTAAACATTAGCGCCTC	0.537																																						ENST00000307266.3																			0				breast(1)|lung(5)|pancreas(1)	7						c.(466-468)aTg>aCg		myeloma overexpressed 2		A	THR/MET	0,4406		0,0,2203	195.0	203.0	200.0		467	-3.8	0.0	2	dbSNP_134	200	1,8599	1.2+/-3.3	0,1,4299	yes	missense	MYEOV2	NM_138336.1	81	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	156/253	241066272	1,13005	2203	4300	6503	SO:0001583	missense	150678							g.chr2:241066272A>G	AF453951	CCDS2532.1, CCDS63183.1	2q37.3	2008-02-05			ENSG00000172428	ENSG00000172428			21314	protein-coding gene	gene with protein product							Standard	NM_138336		Approved		uc002vyu.1	Q8WXC6	OTTHUMG00000133352	ENST00000307266.3:c.467T>C	2.37:g.241066272A>G	ENSP00000304147:p.Met156Thr						p.M156T	NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)	5	466	-		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	0					Q8N110	Missense_Mutation	SNP	ENST00000307266.3	37	c.467T>C	CCDS2532.1	.	.	.	.	.	.	.	.	.	.	A	1.540	-0.542059	0.04053	0.0	1.16E-4	ENSG00000172428	ENST00000307266	.	.	.	2.01	-3.79	0.04320	.	.	.	.	.	T	0.29389	0.0732	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26467	-1.0102	7	0.87932	D	0	.	8.3742	0.32434	0.321:0.0:0.679:0.0	.	156	Q8WXC6-1	.	T	156	.	ENSP00000304147:M156T	M	-	2	0	MYEOV2	240714945	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.291000	0.08343	-1.087000	0.03081	-1.039000	0.02377	ATG		0.537	MYEOV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257182.2	NM_138336		4	117	0	0	0	0.150653	0	4	117				
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs10902490|rs528214697	byFrequency	TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000389562.2_Silent_p.Q2726Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567																																						ENST00000333577.4																			9	Substitution - coding silent(9)	p.Q2726Q(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8287-8289)caA>caG		E1A binding protein p400							25.0	29.0	28.0					12																	132547093		2173	4217	6390	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547093A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8289A>G	12.37:g.132547093A>G						EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000332482.4_Silent_p.Q2690Q	p.Q2763Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8398	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8289A>G																																																																																					0.567	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		3	47	0	0	0	0.115264	0	3	47				
ZNF142	7701	broad.mit.edu	37	2	219507559	219507559	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr2:219507559C>T	ENST00000449707.1	-	8	4101	c.3680G>A	c.(3679-3681)cGc>cAc	p.R1227H	ZNF142_ENST00000411696.2_Missense_Mutation_p.R1227H	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1227					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCAGGGGATGCGGCCAATGCC	0.577																																					Colon(170;867 1942 8995 15834 18053)	ENST00000411696.2																			0				breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(3679-3681)cGc>cAc		zinc finger protein 142							95.0	107.0	103.0					2																	219507559		2138	4235	6373	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219507559C>T	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.3680G>A	2.37:g.219507559C>T	ENSP00000408643:p.Arg1227His					ZNF142_ENST00000449707.1_Missense_Mutation_p.R1227H	p.R1227H			P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	7	4459	-		Renal(207;0.0474)	1227					Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.3680G>A	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864440	0.91511	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.60672	0.17;0.17	5.44	5.44	0.79542	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.69133	0.3077	L	0.38953	1.18	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.67507	-0.5653	10	0.46703	T	0.11	-55.011	19.4628	0.94924	0.0:1.0:0.0:0.0	.	1227;1064	P52746;A8MWU9	ZN142_HUMAN;.	H	1227	ENSP00000408643:R1227H;ENSP00000398798:R1227H	ENSP00000398798:R1227H	R	-	2	0	ZNF142	219215803	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.364000	0.79526	2.837000	0.97791	0.655000	0.94253	CGC		0.577	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		23	140	0	0	0	0.654019	0	23	140				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		4	45	0	0	0	0.150653	0	4	45				
SSX5	6758	broad.mit.edu	37	X	48054234	48054234	+	Silent	SNP	G	G	A			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chrX:48054234G>A	ENST00000376923.1	-	2	125	c.126C>T	c.(124-126)gcC>gcT	p.A42A	SSX5_ENST00000347757.1_Silent_p.A42A|SSX5_ENST00000311798.1_Silent_p.A83A			O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	42	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						TTTTCTCCGAGGCTTTCATCT	0.388																																						ENST00000311798.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						c.(247-249)gcC>gcT		synovial sarcoma, X breakpoint 5							132.0	113.0	120.0					X																	48054234		2203	4299	6502	SO:0001819	synonymous_variant	6758				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48054234G>A	BC016640	CCDS14288.1, CCDS14289.1	Xp11.23	2008-02-05			ENSG00000165583	ENSG00000165583			11339	protein-coding gene	gene with protein product		300327					Standard	NM_021015		Approved		uc004diz.1	O60225	OTTHUMG00000021471	ENST00000376923.1:c.126C>T	X.37:g.48054234G>A						SSX5_ENST00000376923.1_Silent_p.A42A|SSX5_ENST00000347757.1_Silent_p.A42A	p.A83A	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN			4	301	-			42			KRAB-related.		Q5JQ59|Q5JQ60|Q96AW3	Silent	SNP	ENST00000376923.1	37	c.249C>T	CCDS14289.1																																																																																				0.388	SSX5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056466.1	NM_021015		14	30	0	0	0	0.500413	0	14	30				
NCDN	23154	broad.mit.edu	37	1	36028872	36028872	+	Silent	SNP	G	G	T			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr1:36028872G>T	ENST00000373243.2	+	5	1838	c.1455G>T	c.(1453-1455)ggG>ggT	p.G485G	NCDN_ENST00000356090.4_Silent_p.G485G|NCDN_ENST00000373253.3_Silent_p.G468G	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	485					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCAAGGAAGGGGCCCCCTCGC	0.627																																						ENST00000373243.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16						c.(1453-1455)ggG>ggT		neurochondrin							67.0	68.0	68.0					1																	36028872		2203	4300	6503	SO:0001819	synonymous_variant	23154				neuron projection development	cytosol|dendrite|neuronal cell body		g.chr1:36028872G>T	AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.1455G>T	1.37:g.36028872G>T						NCDN_ENST00000373253.3_Silent_p.G468G|NCDN_ENST00000356090.4_Silent_p.G485G	p.G485G	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN			5	1838	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	485					D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Silent	SNP	ENST00000373243.2	37	c.1455G>T	CCDS392.1	.	.	.	.	.	.	.	.	.	.	G	8.640	0.895704	0.17686	.	.	ENSG00000020129	ENST00000423723	.	.	.	4.53	-2.96	0.05547	.	0.125717	0.53938	D	0.000044	T	0.54095	0.1837	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52003	-0.8633	6	0.87932	D	0	.	3.2233	0.06723	0.2974:0.1081:0.4831:0.1114	.	.	.	.	V	79	.	ENSP00000407339:G79V	G	+	2	0	NCDN	35801459	0.998000	0.40836	0.986000	0.45419	0.957000	0.61999	0.408000	0.21065	-0.617000	0.05664	-2.048000	0.00412	GGG		0.627	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	NM_014284		13	48	1	0	4.93089e-13	0.457914	5.678e-13	13	48				
FAM86EP	348926	broad.mit.edu	37	4	3954857	3954857	+	RNA	SNP	C	C	A	rs17410899		TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr4:3954857C>A	ENST00000313946.8	-	0	135				AC226119.5_ENST00000281228.8_RNA					family with sequence similarity 86, member E, pseudogene																		AATATCCCGCCGCAGCTCAGA	0.488																																						ENST00000281228.8																			0																																																			0							g.chr4:3954857C>A			4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3954857C>A						FAM86EP_ENST00000313946.8_RNA								0	141	-									RNA	SNP	ENST00000313946.8	37																																																																																						0.488	FAM86EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357822.1			4	76	1	0	5.9392e-07	0.217242	6.44827e-07	4	76				
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	lincRNA	SNP	C	C	G	rs199933143		TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713773C>G																													1.37:g.142713773C>G														0	832	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			4	46	0	0	0	0.150653	0	4	46				
PDE6C	5146	broad.mit.edu	37	10	95405746	95405746	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr10:95405746G>C	ENST00000371447.3	+	15	2015	c.1877G>C	c.(1876-1878)gGt>gCt	p.G626A		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	626					phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	AGACTTCATGGTTCTTCTATT	0.403																																						ENST00000371447.3																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42						c.(1876-1878)gGt>gCt		phosphodiesterase 6C, cGMP-specific, cone, alpha prime							189.0	164.0	173.0					10																	95405746		2203	4300	6503	SO:0001583	missense	5146				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	g.chr10:95405746G>C	U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"""Phosphodiesterases"""	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.1877G>C	10.37:g.95405746G>C	ENSP00000360502:p.Gly626Ala						p.G626A	NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN			15	2015	+		Colorectal(252;0.123)	626					A6NCR6|Q5VY29	Missense_Mutation	SNP	ENST00000371447.3	37	c.1877G>C	CCDS7429.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910695	0.72983	.	.	ENSG00000095464	ENST00000371447	T	0.77358	-1.09	5.31	5.31	0.75309	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.044250	0.85682	D	0.000000	D	0.88074	0.6339	M	0.80982	2.52	0.80722	D	1	D	0.76494	0.999	D	0.67725	0.953	D	0.88987	0.3412	10	0.66056	D	0.02	.	17.3412	0.87297	0.0:0.0:1.0:0.0	.	626	P51160	PDE6C_HUMAN	A	626	ENSP00000360502:G626A	ENSP00000360502:G626A	G	+	2	0	PDE6C	95395736	1.000000	0.71417	0.989000	0.46669	0.446000	0.32137	8.373000	0.90131	2.763000	0.94921	0.563000	0.77884	GGT		0.403	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1	NM_006204		8	37	0	0	0	0.335167	0	8	37				
MUC17	140453	broad.mit.edu	37	7	100681501	100681501	+	Silent	SNP	C	C	T			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr7:100681501C>T	ENST00000306151.4	+	3	6868	c.6804C>T	c.(6802-6804)agC>agT	p.S2268S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2268	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AAGGTACCAGCATACCAACTT	0.488																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(6802-6804)agC>agT		mucin 17, cell surface associated							265.0	268.0	267.0					7																	100681501		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681501C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6804C>T	7.37:g.100681501C>T							p.S2268S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	6868	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2268			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.6804C>T	CCDS34711.1																																																																																				0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		42	270	0	0	0	0.840704	0	42	270				
CYP19A1	1588	broad.mit.edu	37	15	51507372	51507372	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr15:51507372C>T	ENST00000396402.1	-	8	1069	c.916G>A	c.(916-918)Gca>Aca	p.A306T	CYP19A1_ENST00000396404.4_Missense_Mutation_p.A306T|CYP19A1_ENST00000559878.1_Missense_Mutation_p.A306T|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000260433.2_Missense_Mutation_p.A306T	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	306					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|prostate gland growth (GO:0060736)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)	aromatase activity (GO:0070330)|electron carrier activity (GO:0009055)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)	TCAGGAGCTGCGATCAGCATT	0.403																																					Melanoma(142;1016 1807 39614 48966 51721)	ENST00000396402.1																			0				endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33						c.(916-918)Gca>Aca		cytochrome P450, family 19, subfamily A, polypeptide 1	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)						131.0	124.0	126.0					15																	51507372		2196	4293	6489	SO:0001583	missense	0				estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr15:51507372C>T	D14473	CCDS10139.1	15q21	2009-01-26	2003-02-14	2003-02-28	ENSG00000137869	ENSG00000137869		"""Cytochrome P450s"""	2594	protein-coding gene	gene with protein product		107910	"""cytochrome P450, subfamily XIX (aromatization of androgens)"""	CYP19		8477708	Standard	NM_031226		Approved	ARO, P-450AROM, CPV1, ARO1, CYAR, aromatase	uc001zza.4	P11511	OTTHUMG00000131747	ENST00000396402.1:c.916G>A	15.37:g.51507372C>T	ENSP00000379683:p.Ala306Thr					CYP19A1_ENST00000559878.1_Missense_Mutation_p.A306T|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000260433.2_Missense_Mutation_p.A306T|CYP19A1_ENST00000396404.4_Missense_Mutation_p.A306T	p.A306T	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN		all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	8	1069	-			306					Q16731|Q3B764|Q58FA0|Q8IYJ7	Missense_Mutation	SNP	ENST00000396402.1	37	c.916G>A	CCDS10139.1	.	.	.	.	.	.	.	.	.	.	C	33	5.272791	0.95429	.	.	ENSG00000137869	ENST00000396402;ENST00000260433;ENST00000396404;ENST00000420301;ENST00000439712	T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.90892	0.7138	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.91686	0.5362	10	0.87932	D	0	-17.7292	20.3539	0.98825	0.0:1.0:0.0:0.0	.	306	P11511	CP19A_HUMAN	T	306	ENSP00000379683:A306T;ENSP00000260433:A306T;ENSP00000379685:A306T;ENSP00000390614:A306T	ENSP00000260433:A306T	A	-	1	0	CYP19A1	49294664	1.000000	0.71417	0.592000	0.28758	0.736000	0.42039	7.480000	0.81109	2.826000	0.97356	0.655000	0.94253	GCA		0.403	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254669.1			17	40	0	0	0	0.557998	0	17	40				
EPB41L1	2036	broad.mit.edu	37	20	34766592	34766592	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr20:34766592G>A	ENST00000338074.2	+	5	649	c.488G>A	c.(487-489)cGg>cAg	p.R163Q	EPB41L1_ENST00000373946.3_Missense_Mutation_p.R132Q|EPB41L1_ENST00000373950.2_Missense_Mutation_p.R66Q|EPB41L1_ENST00000373941.1_Missense_Mutation_p.R163Q|EPB41L1_ENST00000202028.5_Missense_Mutation_p.R101Q|EPB41L1_ENST00000441639.1_Missense_Mutation_p.R101Q	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	163	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AAGCAGATCCGGAGTGAGTGG	0.537																																						ENST00000338074.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						c.(487-489)cGg>cAg		erythrocyte membrane protein band 4.1-like 1							127.0	137.0	133.0					20																	34766592		2203	4300	6503	SO:0001583	missense	2036				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	g.chr20:34766592G>A	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.488G>A	20.37:g.34766592G>A	ENSP00000337168:p.Arg163Gln					EPB41L1_ENST00000441639.1_Missense_Mutation_p.R101Q|EPB41L1_ENST00000373946.3_Missense_Mutation_p.R132Q|EPB41L1_ENST00000373941.1_Missense_Mutation_p.R163Q|EPB41L1_ENST00000373950.2_Missense_Mutation_p.R66Q|EPB41L1_ENST00000202028.5_Missense_Mutation_p.R101Q	p.R163Q	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN			5	649	+	Breast(12;0.0239)		163			FERM.		O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	ENST00000338074.2	37	c.488G>A	CCDS13271.1	.	.	.	.	.	.	.	.	.	.	G	33	5.244083	0.95272	.	.	ENSG00000088367	ENST00000202028;ENST00000406771;ENST00000430276;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000452261;ENST00000397307;ENST00000441639;ENST00000373946;ENST00000373945;ENST00000338074;ENST00000373941	T;T;T;T;T;T;T;T;T;T	0.76448	-0.64;-1.02;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64	5.56	5.56	0.83823	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM conserved site (1);	.	.	.	.	D	0.87382	0.6163	M	0.82630	2.6	0.58432	D	0.999992	D;D;B;D;D;D;P	0.89917	0.998;1.0;0.194;0.965;0.999;0.961;0.943	D;D;B;B;D;B;B	0.69479	0.931;0.964;0.212;0.431;0.928;0.325;0.331	D	0.88441	0.3042	9	0.87932	D	0	.	11.8776	0.52556	0.0805:0.0:0.9195:0.0	.	163;163;163;132;66;66;101	B7Z653;Q9H4G0;Q4VXN5;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2	.;E41L1_HUMAN;.;.;.;.;.	Q	101;163;101;66;163;66;163;101;101;132;101;163;163	ENSP00000202028:R101Q;ENSP00000385244:R163Q;ENSP00000404341:R101Q;ENSP00000363061:R66Q;ENSP00000413262:R163Q;ENSP00000399214:R101Q;ENSP00000363057:R132Q;ENSP00000363056:R101Q;ENSP00000337168:R163Q;ENSP00000363052:R163Q	ENSP00000202028:R101Q	R	+	2	0	EPB41L1	34230006	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.008000	0.88588	2.775000	0.95449	0.655000	0.94253	CGG		0.537	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		30	123	0	0	0	0.804634	0	30	123				
CCDC66	285331	broad.mit.edu	37	3	56627995	56627995	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr3:56627995T>A	ENST00000394672.3	+	10	1413	c.1343T>A	c.(1342-1344)cTc>cAc	p.L448H	CCDC66_ENST00000436465.2_Missense_Mutation_p.L448H|CCDC66_ENST00000326595.7_Missense_Mutation_p.L414H	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	448					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		ATGACTGCTCTCTTGGACCCA	0.373																																						ENST00000394672.3																			0				breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12						c.(1342-1344)cTc>cAc		coiled-coil domain containing 66							180.0	167.0	172.0					3																	56627995		2203	4300	6503	SO:0001583	missense	285331							g.chr3:56627995T>A	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.1343T>A	3.37:g.56627995T>A	ENSP00000378167:p.Leu448His					CCDC66_ENST00000436465.2_Missense_Mutation_p.L448H|CCDC66_ENST00000326595.7_Missense_Mutation_p.L414H	p.L448H	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)	10	1413	+			448					B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	ENST00000394672.3	37	c.1343T>A	CCDS46852.1	.	.	.	.	.	.	.	.	.	.	T	19.72	3.880810	0.72294	.	.	ENSG00000180376	ENST00000422222;ENST00000394672;ENST00000326595;ENST00000436465	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.96	5.96	0.96718	.	0.062942	0.64402	D	0.000003	T	0.72969	0.3527	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.76642	-0.2884	10	0.87932	D	0	-6.7415	14.658	0.68847	0.0:0.0:0.0:1.0	.	448	A2RUB6	CCD66_HUMAN	H	404;448;414;448	ENSP00000401451:L404H;ENSP00000378167:L448H;ENSP00000326050:L414H;ENSP00000404320:L448H	ENSP00000326050:L414H	L	+	2	0	CCDC66	56603035	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	5.287000	0.65645	2.274000	0.75844	0.477000	0.44152	CTC		0.373	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		18	76	0	0	0	0.575678	0	18	76				
ZXDB	158586	broad.mit.edu	37	X	57619097	57619097	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chrX:57619097G>A	ENST00000374888.1	+	1	829	c.616G>A	c.(616-618)Ggg>Agg	p.G206R		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	206					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.G206R(2)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CCAGCAGCCCGGGTGTCTGAT	0.711																																						ENST00000374888.1																			2	Substitution - Missense(2)	p.G206R(2)	lung(1)|prostate(1)	NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						c.(616-618)Ggg>Agg		zinc finger, X-linked, duplicated B							12.0	14.0	13.0					X																	57619097		2186	4257	6443	SO:0001583	missense	158586				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chrX:57619097G>A	L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"""Zinc fingers, C2H2-type"""	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.616G>A	X.37:g.57619097G>A	ENSP00000364023:p.Gly206Arg						p.G206R	NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN			1	829	+			206					A8K151|Q9UBB3	Missense_Mutation	SNP	ENST00000374888.1	37	c.616G>A	CCDS35313.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.654782	0.00108	.	.	ENSG00000198455	ENST00000374888	T	0.11063	2.81	2.65	1.78	0.24846	.	0.160870	0.29602	N	0.011697	T	0.04452	0.0122	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41787	-0.9489	10	0.15952	T	0.53	.	4.3042	0.10938	0.3435:0.0:0.6565:0.0	.	206	P98169	ZXDB_HUMAN	R	206	ENSP00000364023:G206R	ENSP00000364023:G206R	G	+	1	0	ZXDB	57635822	0.000000	0.05858	0.002000	0.10522	0.045000	0.14185	-0.287000	0.08388	0.520000	0.28426	0.556000	0.70494	GGG		0.711	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	NM_007157		3	12	0	0	0	0.150653	0	3	12				
SPTBN5	51332	broad.mit.edu	37	15	42162706	42162706	+	Nonsense_Mutation	SNP	G	G	A	rs377166485		TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr15:42162706G>A	ENST00000320955.6	-	30	5727	c.5500C>T	c.(5500-5502)Cga>Tga	p.R1834*		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1834					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCGGTGTCTCGGAGCGCGTGG	0.662																																						ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(5500-5502)Cga>Tga		spectrin, beta, non-erythrocytic 5		G	stop/ARG	0,4074		0,0,2037	69.0	74.0	72.0		5395	1.1	0.0	15		72	1,8359		0,1,4179	no	stop-gained	SPTBN5	NM_016642.2		0,1,6216	AA,AG,GG		0.012,0.0,0.0080		1799/3640	42162706	1,12433	2037	4180	6217	SO:0001587	stop_gained	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42162706G>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.5500C>T	15.37:g.42162706G>A	ENSP00000317790:p.Arg1834*						p.R1834*	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	30	5727	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1834						Nonsense_Mutation	SNP	ENST00000320955.6	37	c.5500C>T		.	.	.	.	.	.	.	.	.	.	.	45	11.381725	0.99554	0.0	1.2E-4	ENSG00000137877	ENST00000320955	.	.	.	4.63	1.15	0.20763	.	1.327670	0.05615	N	0.578739	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	10.9758	0.47465	0.0:0.0:0.2596:0.7404	.	.	.	.	X	1834	.	ENSP00000317790:R1834X	R	-	1	2	SPTBN5	39949998	0.009000	0.17119	0.043000	0.18650	0.027000	0.11550	-0.184000	0.09698	-0.004000	0.14419	0.655000	0.94253	CGA		0.662	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		7	43	0	0	0	0.335167	0	7	43				
GEMIN7	79760	broad.mit.edu	37	19	45593388	45593388	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr19:45593388A>G	ENST00000270257.4	+	3	263	c.16A>G	c.(16-18)Aac>Gac	p.N6D	CTB-179K24.3_ENST00000586744.1_RNA|PPP1R37_ENST00000421905.1_5'Flank|GEMIN7_ENST00000591747.1_Missense_Mutation_p.N6D|CTB-179K24.3_ENST00000586556.1_RNA|GEMIN7_ENST00000591607.1_Missense_Mutation_p.N6D|PPP1R37_ENST00000221462.4_5'Flank|GEMIN7_ENST00000391951.2_Missense_Mutation_p.N6D	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN	gem (nuclear organelle) associated protein 7	6					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				endometrium(1)|kidney(1)|lung(4)|ovary(1)	7		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		AACTCCAGTGAACATTCCCGT	0.577																																						ENST00000270257.4																			0				endometrium(1)|kidney(1)|lung(4)|ovary(1)	7						c.(16-18)Aac>Gac		gem (nuclear organelle) associated protein 7							93.0	103.0	100.0					19																	45593388		2203	4296	6499	SO:0001583	missense	0				ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding	g.chr19:45593388A>G	AK024018	CCDS12654.1	19q13.32	2008-02-05				ENSG00000142252			20045	protein-coding gene	gene with protein product		607419				12065586	Standard	NM_024707		Approved	FLJ13956	uc002pap.1	Q9H840		ENST00000270257.4:c.16A>G	19.37:g.45593388A>G	ENSP00000270257:p.Asn6Asp					GEMIN7_ENST00000391951.2_Missense_Mutation_p.N6D|GEMIN7_ENST00000591747.1_Missense_Mutation_p.N6D|GEMIN7_ENST00000591607.1_Missense_Mutation_p.N6D|CTB-179K24.4_ENST00000586744.1_RNA|CTB-179K24.3_ENST00000586556.1_RNA	p.N6D	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0131)	3	263	+		Ovarian(192;0.0728)|all_neural(266;0.112)	6					Q6IA34	Missense_Mutation	SNP	ENST00000270257.4	37	c.16A>G	CCDS12654.1	.	.	.	.	.	.	.	.	.	.	A	9.853	1.194246	0.22037	.	.	ENSG00000142252	ENST00000270257;ENST00000391951	.	.	.	4.3	-8.59	0.00893	.	1.732480	0.02806	N	0.123719	T	0.20780	0.0500	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.20075	-1.0286	9	0.15066	T	0.55	-0.025	12.2327	0.54497	0.137:0.3509:0.5121:0.0	.	6	Q9H840	GEMI7_HUMAN	D	6	.	ENSP00000270257:N6D	N	+	1	0	GEMIN7	50285228	0.000000	0.05858	0.000000	0.03702	0.441000	0.31987	-1.298000	0.02756	-2.627000	0.00436	0.449000	0.29647	AAC		0.577	GEMIN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457533.1			35	134	0	0	0	0.827153	0	35	134				
LAMB1	3912	broad.mit.edu	37	7	107580636	107580636	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr7:107580636C>T	ENST00000222399.6	-	25	3789	c.3559G>A	c.(3559-3561)Gat>Aat	p.D1187N	LAMB1_ENST00000393561.1_Missense_Mutation_p.D1211N|CTB-13F3.1_ENST00000608515.1_RNA	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1187	Domain II.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						ATGATCACATCCCAGAGAGCA	0.572																																						ENST00000393561.1																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(3631-3633)Gat>Aat		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						146.0	115.0	126.0					7																	107580636		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107580636C>T	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.3559G>A	7.37:g.107580636C>T	ENSP00000222399:p.Asp1187Asn					LAMB1_ENST00000222399.6_Missense_Mutation_p.D1187N	p.D1211N			P07942	LAMB1_HUMAN			23	3815	-			1187			Domain II.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.3631G>A	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896508	0.72639	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.35973	1.28;1.28	5.22	4.32	0.51571	.	.	.	.	.	T	0.35970	0.0950	L	0.46157	1.445	0.80722	D	1	B;B	0.29162	0.235;0.171	B;B	0.33339	0.162;0.121	T	0.33137	-0.9880	9	0.72032	D	0.01	.	14.2363	0.65929	0.0:0.9272:0.0:0.0728	.	1187;1211	P07942;G3XAI2	LAMB1_HUMAN;.	N	1211;1187	ENSP00000377191:D1211N;ENSP00000222399:D1187N	ENSP00000222399:D1187N	D	-	1	0	LAMB1	107367872	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	5.615000	0.67702	2.712000	0.92718	0.563000	0.77884	GAT		0.572	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		11	94	0	0	0	0.361761	0	11	94				
FAM8A1	51439	broad.mit.edu	37	6	17605181	17605181	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr6:17605181A>G	ENST00000259963.3	+	3	933	c.878A>G	c.(877-879)gAt>gGt	p.D293G		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	293	RDD.					integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			GAAGAAATAGATGAAGACACA	0.323																																						ENST00000259963.3																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(877-879)gAt>gGt		family with sequence similarity 8, member A1							101.0	107.0	105.0					6																	17605181		2202	4300	6502	SO:0001583	missense	51439					integral to membrane		g.chr6:17605181A>G	AF097027	CCDS4540.1	6p23	2010-11-22			ENSG00000137414	ENSG00000137414			16372	protein-coding gene	gene with protein product						11707071	Standard	NM_016255		Approved	AHCP	uc003ncc.3	Q9UBU6	OTTHUMG00000014309	ENST00000259963.3:c.878A>G	6.37:g.17605181A>G	ENSP00000259963:p.Asp293Gly						p.D293G	NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	all cancers(50;0.176)|Epithelial(50;0.204)		3	933	+	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	293			RDD.		B2R725	Missense_Mutation	SNP	ENST00000259963.3	37	c.878A>G	CCDS4540.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.356210	0.82243	.	.	ENSG00000137414	ENST00000542476;ENST00000259963	.	.	.	5.84	4.63	0.57726	RDD (1);	0.000000	0.85682	D	0.000000	T	0.71821	0.3385	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.75465	-0.3308	9	0.62326	D	0.03	-12.7336	12.424	0.55536	0.8746:0.0:0.0:0.1254	.	293	Q9UBU6	FA8A1_HUMAN	G	43;293	.	ENSP00000259963:D293G	D	+	2	0	FAM8A1	17713160	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.907000	0.92634	2.230000	0.72887	0.455000	0.32223	GAT		0.323	FAM8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039950.1			8	33	0	0	0	0.278610	0	8	33				
KCNB1	3745	broad.mit.edu	37	20	48098569	48098569	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr20:48098569C>T	ENST00000371741.4	-	1	615	c.449G>A	c.(448-450)cGt>cAt	p.R150H		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	150					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	CTCGGCCTCACGCTTGAGCTC	0.577																																						ENST00000371741.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(448-450)cGt>cAt		potassium voltage-gated channel, Shab-related subfamily, member 1							160.0	129.0	139.0					20																	48098569		2203	4300	6503	SO:0001583	missense	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:48098569C>T	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.449G>A	20.37:g.48098569C>T	ENSP00000360806:p.Arg150His						p.R150H	NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		1	615	-			150					Q14193	Missense_Mutation	SNP	ENST00000371741.4	37	c.449G>A	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.784237	0.90282	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.96459	-4.02	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.94650	0.8275	L	0.58302	1.8	0.80722	D	1	P	0.44006	0.824	B	0.37304	0.246	D	0.94896	0.8052	10	0.51188	T	0.08	.	18.4287	0.90618	0.0:1.0:0.0:0.0	.	150	Q14721	KCNB1_HUMAN	H	150;105	ENSP00000360806:R150H	ENSP00000360806:R150H	R	-	2	0	KCNB1	47531976	1.000000	0.71417	0.969000	0.41365	0.992000	0.81027	7.651000	0.83577	2.676000	0.91093	0.563000	0.77884	CGT		0.577	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		7	97	0	0	0	0.248553	0	7	97				
CORO1B	57175	broad.mit.edu	37	11	67205932	67205932	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr11:67205932G>T	ENST00000341356.5	-	11	1495	c.1385C>A	c.(1384-1386)gCc>gAc	p.A462D	PTPRCAP_ENST00000326294.3_5'Flank|CORO1B_ENST00000539724.1_5'UTR|CORO1B_ENST00000393893.1_Missense_Mutation_p.A462D	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	462					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|endothelial cell chemotaxis (GO:0035767)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|positive regulation of lamellipodium morphogenesis (GO:2000394)|protein localization to cell leading edge (GO:1902463)|ruffle organization (GO:0031529)|wound healing (GO:0042060)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|identical protein binding (GO:0042802)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CGCCCTCAGGGCCCGCAGCTC	0.682																																						ENST00000393893.1																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13						c.(1384-1386)gCc>gAc		coronin, actin binding protein, 1B							38.0	40.0	39.0					11																	67205932		2200	4295	6495	SO:0001583	missense	57175				actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding	g.chr11:67205932G>T	AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725		"""Coronins"", ""WD repeat domain containing"""	2253	protein-coding gene	gene with protein product		609849	"""coronin, actin-binding protein, 1B"""			9778037	Standard	NM_001018070		Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.1385C>A	11.37:g.67205932G>T	ENSP00000340211:p.Ala462Asp					CORO1B_ENST00000341356.5_Missense_Mutation_p.A462D|CORO1B_ENST00000539724.1_5'UTR	p.A462D	NM_001018070.2	NP_001018080.1	Q9BR76	COR1B_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		12	1488	-			462					B2RD45	Missense_Mutation	SNP	ENST00000341356.5	37	c.1385C>A	CCDS8164.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.492621	0.26774	.	.	ENSG00000172725	ENST00000393893;ENST00000341356	T;T	0.61627	0.09;0.09	4.97	1.92	0.25849	.	0.424542	0.17480	N	0.172751	T	0.38401	0.1039	L	0.29908	0.895	0.21445	N	0.999684	B	0.06786	0.001	B	0.06405	0.002	T	0.15037	-1.0451	10	0.29301	T	0.29	-4.9948	4.9757	0.14138	0.0832:0.1455:0.6212:0.1501	.	462	Q9BR76	COR1B_HUMAN	D	462	ENSP00000377471:A462D;ENSP00000340211:A462D	ENSP00000340211:A462D	A	-	2	0	CORO1B	66962508	0.001000	0.12720	0.287000	0.24848	0.686000	0.39977	0.788000	0.26872	0.653000	0.30826	-0.320000	0.08662	GCC		0.682	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396220.1	NM_020441		7	59	1	0	2.7689e-08	0.248553	3.09465e-08	7	59				
EIF4G3	8672	broad.mit.edu	37	1	21205816	21205816	+	Splice_Site	SNP	C	C	G			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr1:21205816C>G	ENST00000264211.8	-	14	2648	c.2454G>C	c.(2452-2454)acG>acC	p.T818T	EIF4G3_ENST00000536266.1_Splice_Site_p.T422T|EIF4G3_ENST00000602326.1_Splice_Site_p.T824T|EIF4G3_ENST00000537738.1_Splice_Site_p.T308T|EIF4G3_ENST00000374937.3_Splice_Site_p.T824T|EIF4G3_ENST00000400422.1_Splice_Site_p.T818T|EIF4G3_ENST00000374935.3_Splice_Site_p.T538T	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	818	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.|eIF3/EIF4A-binding. {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.T824T(1)|p.T818T(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CTCTTCTTACCGTTACTAGAC	0.443																																						ENST00000602326.1																			2	Substitution - coding silent(2)	p.T824T(1)|p.T818T(1)	lung(2)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70						c.e18+1		eukaryotic translation initiation factor 4 gamma, 3							116.0	117.0	116.0					1																	21205816		2203	4300	6503	SO:0001630	splice_region_variant	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21205816C>G	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.2454+1G>C	1.37:g.21205816C>G						EIF4G3_ENST00000374935.3_Splice_Site_p.T538_splice|EIF4G3_ENST00000374937.3_Splice_Site_p.T824_splice|EIF4G3_ENST00000400422.1_Splice_Site_p.T818_splice|EIF4G3_ENST00000536266.1_Splice_Site_p.T422_splice|EIF4G3_ENST00000264211.8_Splice_Site_p.T818_splice|EIF4G3_ENST00000537738.1_Splice_Site_p.T308_splice	p.T824_splice	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	18	3055	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	818			MIF4G.|eIF3/EIF4A-binding (By similarity).		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Splice_Site	SNP	ENST00000264211.8	37	c.2472_splice	CCDS214.1																																																																																				0.443	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760	Silent	15	70	0	0	0	0.479597	0	15	70				
ZIC5	85416	broad.mit.edu	37	13	100617974	100617974	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr13:100617974G>C	ENST00000267294.4	-	2	1882	c.1649C>G	c.(1648-1650)cCc>cGc	p.P550R		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	550					cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCAGTAGTAGGGCTTGTCACT	0.493																																						ENST00000267294.4																			0				endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9						c.(1648-1650)cCc>cGc		Zic family member 5							197.0	173.0	181.0					13																	100617974		2203	4300	6503	SO:0001583	missense	85416				cell differentiation	nucleus	DNA binding|zinc ion binding	g.chr13:100617974G>C	AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"""Zinc fingers, C2H2-type"""	20322	protein-coding gene	gene with protein product			"""Zic family member 5 (odd-paired homolog, Drosophila)"""				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1649C>G	13.37:g.100617974G>C	ENSP00000267294:p.Pro550Arg						p.P550R	NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN			2	1882	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		550					Q5VYB0	Missense_Mutation	SNP	ENST00000267294.4	37	c.1649C>G	CCDS9494.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.379946	0.82682	.	.	ENSG00000139800	ENST00000397451;ENST00000267294	T	0.20738	2.05	5.79	5.79	0.91817	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48502	0.1503	M	0.66378	2.025	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.42447	-0.9451	9	0.87932	D	0	.	19.6578	0.95851	0.0:0.0:1.0:0.0	.	550	Q96T25	ZIC5_HUMAN	R	188;550	ENSP00000267294:P550R	ENSP00000267294:P550R	P	-	2	0	ZIC5	99415975	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.864000	0.99589	2.722000	0.93159	0.655000	0.94253	CCC		0.493	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045623.3	NM_033132		19	81	0	0	0	0.539581	0	19	81				
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	0e5f2772-8881-4af0-afc1-ce1084d8eef4	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			3	45	0	0	0	0.004672	0	3	45				
KDR	3791	broad.mit.edu	37	4	55946268	55946268	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	0e5f2772-8881-4af0-afc1-ce1084d8eef4	g.chr4:55946268C>T	ENST00000263923.4	-	30	4206	c.3911G>A	c.(3910-3912)gGc>gAc	p.G1304D	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1304					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGACTGGTAGCCGCTTGTCTG	0.507			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"""NSCLC, angiosarcoma"""		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(3910-3912)gGc>gAc		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						168.0	161.0	164.0					4																	55946268		2203	4300	6503	SO:0001583	missense	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55946268C>T	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3911G>A	4.37:g.55946268C>T	ENSP00000263923:p.Gly1304Asp	TSP Lung(20;0.16)				RP11-530I17.1_ENST00000511222.1_RNA	p.G1304D	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		30	4206	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		1304					A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.3911G>A	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.323543	0.41096	.	.	ENSG00000128052	ENST00000263923	T	0.76060	-0.99	5.62	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.62744	0.2453	L	0.33245	0.995	0.80722	D	1	P	0.49783	0.928	B	0.42343	0.384	T	0.60367	-0.7277	10	0.27785	T	0.31	.	10.732	0.46102	0.0:0.8549:0.0:0.1451	.	1304	P35968	VGFR2_HUMAN	D	1304	ENSP00000263923:G1304D	ENSP00000263923:G1304D	G	-	2	0	KDR	55641025	1.000000	0.71417	0.994000	0.49952	0.767000	0.43475	4.685000	0.61693	1.395000	0.46643	0.650000	0.86243	GGC		0.507	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			5	111	0	0	0	0.001984	0	5	111				
CRYBB3	1417	broad.mit.edu	37	22	25599797	25599797	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	0e5f2772-8881-4af0-afc1-ce1084d8eef4	g.chr22:25599797C>T	ENST00000215855.2	+	4	342	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C	CRYBB3_ENST00000404334.1_Missense_Mutation_p.R88C	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	88	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(2)|lung(2)|prostate(1)	5						GGATTATCCTCGCTGGGATGC	0.577																																						ENST00000215855.2																			0				large_intestine(2)|lung(2)|prostate(1)	5						c.(262-264)Cgc>Tgc		crystallin, beta B3							169.0	166.0	167.0					22																	25599797		2203	4300	6503	SO:0001583	missense	1417				visual perception		protein binding|structural constituent of eye lens	g.chr22:25599797C>T		CCDS13830.1	22q11.23	2008-06-10			ENSG00000100053	ENSG00000100053			2400	protein-coding gene	gene with protein product		123630		CRYB3		8999933	Standard	NM_004076		Approved		uc003abo.2	P26998	OTTHUMG00000150869	ENST00000215855.2:c.262C>T	22.37:g.25599797C>T	ENSP00000215855:p.Arg88Cys					CRYBB3_ENST00000404334.1_Missense_Mutation_p.R88C	p.R88C	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN			4	342	+			88			Beta/gamma crystallin 'Greek key' 2.		Q3B7S9|Q3T1B7|Q6ISK6|Q92965|Q9UH09	Missense_Mutation	SNP	ENST00000215855.2	37	c.262C>T	CCDS13830.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771975	0.69992	.	.	ENSG00000100053	ENST00000215855;ENST00000404334	T;T	0.76709	-1.04;-1.04	4.52	3.39	0.38822	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.056276	0.64402	D	0.000001	D	0.83547	0.5278	L	0.49640	1.575	0.58432	D	0.999999	D	0.89917	1.0	D	0.73380	0.98	D	0.85515	0.1200	10	0.72032	D	0.01	.	13.9105	0.63864	0.1632:0.8368:0.0:0.0	.	88	P26998	CRBB3_HUMAN	C	88	ENSP00000215855:R88C;ENSP00000386123:R88C	ENSP00000215855:R88C	R	+	1	0	CRYBB3	23929797	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	4.385000	0.59613	2.048000	0.60808	0.471000	0.43371	CGC		0.577	CRYBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320352.1	NM_004076		33	193	0	0	0	0.005524	0	33	193				
LAMA2	3908	broad.mit.edu	37	6	129824263	129824263	+	Silent	SNP	C	C	T	rs142445491		TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	0e5f2772-8881-4af0-afc1-ce1084d8eef4	g.chr6:129824263C>T	ENST00000421865.2	+	60	8434	c.8385C>T	c.(8383-8385)acC>acT	p.T2795T		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2795	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AAGTAAGAACCGAAGCTGAAT	0.403																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(8383-8385)acC>acT		laminin, alpha 2		C	,	1,4405	2.1+/-5.4	0,1,2202	128.0	113.0	118.0		8385,8373	-11.9	0.1	6	dbSNP_134	118	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	LAMA2	NM_000426.3,NM_001079823.1	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	2795/3123,2791/3119	129824263	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129824263C>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.8385C>T	6.37:g.129824263C>T							p.T2795T	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	60	8434	+			2795			Laminin G-like 4.		Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	c.8385C>T	CCDS5138.1																																																																																				0.403	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			13	80	0	0	0	0.004007	0	13	80				
GPR112	139378	broad.mit.edu	37	X	135485423	135485423	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	0e5f2772-8881-4af0-afc1-ce1084d8eef4	g.chrX:135485423G>A	ENST00000394143.1	+	22	8887	c.8596G>A	c.(8596-8598)Gca>Aca	p.A2866T	GPR112_ENST00000412101.1_Missense_Mutation_p.A2661T|GPR112_ENST00000287534.4_Missense_Mutation_p.A2619T|GPR112_ENST00000394141.1_Missense_Mutation_p.A2661T|GPR112_ENST00000370652.1_Missense_Mutation_p.A2866T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2866					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A2866T(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TATCATGGTGGCAATCACAGT	0.488																																						ENST00000394143.1																			1	Substitution - Missense(1)	p.A2866T(1)	kidney(1)	NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(8596-8598)Gca>Aca		G protein-coupled receptor 112							135.0	96.0	109.0					X																	135485423		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135485423G>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.8596G>A	X.37:g.135485423G>A	ENSP00000377699:p.Ala2866Thr					GPR112_ENST00000287534.4_Missense_Mutation_p.A2619T|GPR112_ENST00000412101.1_Missense_Mutation_p.A2661T|GPR112_ENST00000394141.1_Missense_Mutation_p.A2661T|GPR112_ENST00000370652.1_Missense_Mutation_p.A2866T	p.A2866T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			22	8887	+	Acute lymphoblastic leukemia(192;0.000127)		2866					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.8596G>A	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.719336	0.30503	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21	5.67	4.72	0.59763	GPCR, family 2-like (1);	.	.	.	.	T	0.32941	0.0846	L	0.37561	1.115	0.21897	N	0.999482	B;B	0.22146	0.065;0.026	B;B	0.29353	0.046;0.101	T	0.31833	-0.9929	9	0.66056	D	0.02	.	11.4207	0.49980	0.0965:0.0:0.9035:0.0	.	2661;2866	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	T	2866;2866;2661;2619;2661	ENSP00000377699:A2866T;ENSP00000359686:A2866T;ENSP00000416526:A2661T;ENSP00000287534:A2619T;ENSP00000377697:A2661T	ENSP00000287534:A2619T	A	+	1	0	GPR112	135313089	1.000000	0.71417	0.498000	0.27564	0.602000	0.36980	3.934000	0.56553	1.108000	0.41662	0.600000	0.82982	GCA		0.488	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			3	24	0	0	0	0.009096	0	3	24				
ANKFN1	162282	broad.mit.edu	37	17	54558083	54558083	+	Silent	SNP	G	G	A			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	0e5f2772-8881-4af0-afc1-ce1084d8eef4	g.chr17:54558083G>A	ENST00000318698.2	+	16	2039	c.2004G>A	c.(2002-2004)gtG>gtA	p.V668V	ANKFN1_ENST00000566473.2_Silent_p.V668V	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	668										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TGGAAAGTGTGGATCATACTT	0.413																																						ENST00000566473.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						c.(2002-2004)gtG>gtA		ankyrin-repeat and fibronectin type III domain containing 1							183.0	172.0	175.0					17																	54558083		2203	4300	6503	SO:0001819	synonymous_variant	162282							g.chr17:54558083G>A	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.2004G>A	17.37:g.54558083G>A						ANKFN1_ENST00000318698.2_Silent_p.V668V	p.V668V			Q8N957	ANKF1_HUMAN			16	2004	+			668						Silent	SNP	ENST00000318698.2	37	c.2004G>A	CCDS32686.1																																																																																				0.413	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		13	116	0	0	0	0.016723	0	13	116				
CLTC	1213	broad.mit.edu	37	17	57733350	57733350	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	0e5f2772-8881-4af0-afc1-ce1084d8eef4	g.chr17:57733350G>A	ENST00000269122.3	+	6	1205	c.931G>A	c.(931-933)Gcc>Acc	p.A311T	CLTC_ENST00000393043.1_Missense_Mutation_p.A311T|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	311	Globular terminal domain.|WD40-like repeat 7.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)	p.A311S(1)	CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ACCTCATGAAGCCACAGCTGG	0.378			T	"""ALK, TFE3"""	"""ALCL, renal """																																	ENST00000269122.3				Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	"""ALK, TFE3"""		"""ALCL, renal """	CLTC/ALK(44)|CLTC/TFE3(2)	1	Substitution - Missense(1)	p.A311S(1)	lung(1)	breast(2)|large_intestine(6)|ovary(1)	9						c.(931-933)Gcc>Acc		clathrin, heavy chain (Hc)							115.0	114.0	115.0					17																	57733350		2203	4300	6503	SO:0001583	missense	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57733350G>A	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.931G>A	17.37:g.57733350G>A	ENSP00000269122:p.Ala311Thr					CLTC_ENST00000393043.1_Missense_Mutation_p.A311T|CLTC_ENST00000579456.1_Intron	p.A311T	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN			6	1205	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		311			Globular terminal domain.		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	c.931G>A	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140713	0.56936	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.22134	1.97;1.97	5.73	5.73	0.89815	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.049421	0.85682	D	0.000000	T	0.26846	0.0657	L	0.55481	1.735	0.80722	D	1	B;B	0.18968	0.032;0.0	B;B	0.25140	0.058;0.012	T	0.02766	-1.1113	10	0.30078	T	0.28	.	19.9019	0.96988	0.0:0.0:1.0:0.0	.	311;311	Q00610;Q00610-2	CLH1_HUMAN;.	T	311	ENSP00000269122:A311T;ENSP00000376763:A311T	ENSP00000269122:A311T	A	+	1	0	CLTC	55088132	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.795000	0.62489	2.698000	0.92095	0.591000	0.81541	GCC		0.378	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		15	51	0	0	0	0.003163	0	15	51				
MYEOV2	150678	broad.mit.edu	37	2	241066272	241066272	+	Missense_Mutation	SNP	A	A	G	rs142104600		TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	0e5f2772-8881-4af0-afc1-ce1084d8eef4	g.chr2:241066272A>G	ENST00000307266.3	-	5	466	c.467T>C	c.(466-468)aTg>aCg	p.M156T		NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TCTGGTAAACATTAGCGCCTC	0.537																																						ENST00000307266.3																			0				breast(1)|lung(5)|pancreas(1)	7						c.(466-468)aTg>aCg		myeloma overexpressed 2		A	THR/MET	0,4406		0,0,2203	195.0	203.0	200.0		467	-3.8	0.0	2	dbSNP_134	200	1,8599	1.2+/-3.3	0,1,4299	yes	missense	MYEOV2	NM_138336.1	81	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	156/253	241066272	1,13005	2203	4300	6503	SO:0001583	missense	150678							g.chr2:241066272A>G	AF453951	CCDS2532.1, CCDS63183.1	2q37.3	2008-02-05			ENSG00000172428	ENSG00000172428			21314	protein-coding gene	gene with protein product							Standard	NM_138336		Approved		uc002vyu.1	Q8WXC6	OTTHUMG00000133352	ENST00000307266.3:c.467T>C	2.37:g.241066272A>G	ENSP00000304147:p.Met156Thr						p.M156T	NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)	5	466	-		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	0					Q8N110	Missense_Mutation	SNP	ENST00000307266.3	37	c.467T>C	CCDS2532.1	.	.	.	.	.	.	.	.	.	.	A	1.540	-0.542059	0.04053	0.0	1.16E-4	ENSG00000172428	ENST00000307266	.	.	.	2.01	-3.79	0.04320	.	.	.	.	.	T	0.29389	0.0732	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26467	-1.0102	7	0.87932	D	0	.	8.3742	0.32434	0.321:0.0:0.679:0.0	.	156	Q8WXC6-1	.	T	156	.	ENSP00000304147:M156T	M	-	2	0	MYEOV2	240714945	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.291000	0.08343	-1.087000	0.03081	-1.039000	0.02377	ATG		0.537	MYEOV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257182.2	NM_138336		4	117	0	0	0	0.009096	0	4	117				
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs10902490|rs528214697	byFrequency	TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	0e5f2772-8881-4af0-afc1-ce1084d8eef4	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000389562.2_Silent_p.Q2726Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567																																						ENST00000333577.4																			9	Substitution - coding silent(9)	p.Q2726Q(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8287-8289)caA>caG		E1A binding protein p400							25.0	29.0	28.0					12																	132547093		2173	4217	6390	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547093A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8289A>G	12.37:g.132547093A>G						EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000389561.2_Silent_p.Q2727Q	p.Q2763Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8398	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8289A>G																																																																																					0.567	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		3	47	0	0	0	0.004672	0	3	47				
ZNF142	7701	broad.mit.edu	37	2	219507559	219507559	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	0e5f2772-8881-4af0-afc1-ce1084d8eef4	g.chr2:219507559C>T	ENST00000449707.1	-	8	4101	c.3680G>A	c.(3679-3681)cGc>cAc	p.R1227H	ZNF142_ENST00000411696.2_Missense_Mutation_p.R1227H	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1227					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCAGGGGATGCGGCCAATGCC	0.577																																					Colon(170;867 1942 8995 15834 18053)	ENST00000411696.2																			0				breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(3679-3681)cGc>cAc		zinc finger protein 142							95.0	107.0	103.0					2																	219507559		2138	4235	6373	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219507559C>T	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.3680G>A	2.37:g.219507559C>T	ENSP00000408643:p.Arg1227His					ZNF142_ENST00000449707.1_Missense_Mutation_p.R1227H	p.R1227H			P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	7	4459	-		Renal(207;0.0474)	1227					Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.3680G>A	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864440	0.91511	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.60672	0.17;0.17	5.44	5.44	0.79542	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.69133	0.3077	L	0.38953	1.18	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.67507	-0.5653	10	0.46703	T	0.11	-55.011	19.4628	0.94924	0.0:1.0:0.0:0.0	.	1227;1064	P52746;A8MWU9	ZN142_HUMAN;.	H	1227	ENSP00000408643:R1227H;ENSP00000398798:R1227H	ENSP00000398798:R1227H	R	-	2	0	ZNF142	219215803	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.364000	0.79526	2.837000	0.97791	0.655000	0.94253	CGC		0.577	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		23	140	0	0	0	0.018920	0	23	140				
RP11-24M17.5	0	broad.mit.edu	37	15	76074431	76074431	+	RNA	SNP	C	C	T	rs371238897		TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	0e5f2772-8881-4af0-afc1-ce1084d8eef4	g.chr15:76074431C>T	ENST00000395215.3	+	0	610																		p.S190L(2)									CTCCAGTCCTCGAGCTGCAGA	0.547																																						ENST00000395215.3																			2	Substitution - Missense(2)	p.S190L(2)	endometrium(2)																																																0							g.chr15:76074431C>T																													15.37:g.76074431C>T														0	610	+									RNA	SNP	ENST00000395215.3	37			.	.	.	.	.	.	.	.	.	.	.	3.205	-0.162863	0.06502	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.789	0.789	0.18607	.	.	.	.	.	T	0.29850	0.0746	.	.	.	.	.	.	B	0.20550	0.046	B	0.15870	0.014	T	0.30208	-0.9986	6	0.27082	T	0.32	.	7.4893	0.27452	0.0:0.9999:0.0:1.0E-4	.	190	B4DZE6	.	L	190	.	ENSP00000378641:S190L	S	+	2	0	AC019294.2	73861486	0.987000	0.35691	0.013000	0.15412	0.024000	0.10985	3.310000	0.51911	0.745000	0.32763	0.274000	0.19336	TCG		0.547	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			6	38	0	0	0	0.003080	0	6	38				
SSX5	6758	broad.mit.edu	37	X	48054234	48054234	+	Silent	SNP	G	G	A			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	0e5f2772-8881-4af0-afc1-ce1084d8eef4	g.chrX:48054234G>A	ENST00000376923.1	-	2	125	c.126C>T	c.(124-126)gcC>gcT	p.A42A	SSX5_ENST00000347757.1_Silent_p.A42A|SSX5_ENST00000311798.1_Silent_p.A83A			O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	42	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						TTTTCTCCGAGGCTTTCATCT	0.388																																						ENST00000311798.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						c.(247-249)gcC>gcT		synovial sarcoma, X breakpoint 5							132.0	113.0	120.0					X																	48054234		2203	4299	6502	SO:0001819	synonymous_variant	6758				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48054234G>A	BC016640	CCDS14288.1, CCDS14289.1	Xp11.23	2008-02-05			ENSG00000165583	ENSG00000165583			11339	protein-coding gene	gene with protein product		300327					Standard	NM_021015		Approved		uc004diz.1	O60225	OTTHUMG00000021471	ENST00000376923.1:c.126C>T	X.37:g.48054234G>A						SSX5_ENST00000376923.1_Silent_p.A42A|SSX5_ENST00000347757.1_Silent_p.A42A	p.A83A	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN			4	301	-			42			KRAB-related.		Q5JQ59|Q5JQ60|Q96AW3	Silent	SNP	ENST00000376923.1	37	c.249C>T	CCDS14289.1																																																																																				0.388	SSX5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056466.1	NM_021015		14	30	0	0	0	0.004007	0	14	30				
NCDN	23154	broad.mit.edu	37	1	36028872	36028872	+	Silent	SNP	G	G	T			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	0e5f2772-8881-4af0-afc1-ce1084d8eef4	g.chr1:36028872G>T	ENST00000373243.2	+	5	1838	c.1455G>T	c.(1453-1455)ggG>ggT	p.G485G	NCDN_ENST00000356090.4_Silent_p.G485G|NCDN_ENST00000373253.3_Silent_p.G468G	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	485					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCAAGGAAGGGGCCCCCTCGC	0.627																																						ENST00000373243.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16						c.(1453-1455)ggG>ggT		neurochondrin							67.0	68.0	68.0					1																	36028872		2203	4300	6503	SO:0001819	synonymous_variant	23154				neuron projection development	cytosol|dendrite|neuronal cell body		g.chr1:36028872G>T	AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.1455G>T	1.37:g.36028872G>T						NCDN_ENST00000373253.3_Silent_p.G468G|NCDN_ENST00000356090.4_Silent_p.G485G	p.G485G	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN			5	1838	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	485					D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Silent	SNP	ENST00000373243.2	37	c.1455G>T	CCDS392.1	.	.	.	.	.	.	.	.	.	.	G	8.640	0.895704	0.17686	.	.	ENSG00000020129	ENST00000423723	.	.	.	4.53	-2.96	0.05547	.	0.125717	0.53938	D	0.000044	T	0.54095	0.1837	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52003	-0.8633	6	0.87932	D	0	.	3.2233	0.06723	0.2974:0.1081:0.4831:0.1114	.	.	.	.	V	79	.	ENSP00000407339:G79V	G	+	2	0	NCDN	35801459	0.998000	0.40836	0.986000	0.45419	0.957000	0.61999	0.408000	0.21065	-0.617000	0.05664	-2.048000	0.00412	GGG		0.627	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	NM_014284		13	48	1	0	4.93089e-13	0.020292	5.86376e-13	13	48				
FAM86EP	348926	broad.mit.edu	37	4	3954857	3954857	+	RNA	SNP	C	C	A	rs17410899		TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	0e5f2772-8881-4af0-afc1-ce1084d8eef4	g.chr4:3954857C>A	ENST00000313946.8	-	0	135				AC226119.5_ENST00000281228.8_RNA					family with sequence similarity 86, member E, pseudogene																		AATATCCCGCCGCAGCTCAGA	0.488																																						ENST00000281228.8																			0																																																			0							g.chr4:3954857C>A			4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3954857C>A						FAM86EP_ENST00000313946.8_RNA								0	141	-									RNA	SNP	ENST00000313946.8	37																																																																																						0.488	FAM86EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357822.1			4	76	1	0	5.9392e-07	0.001168	6.70064e-07	4	76				
PDE6C	5146	broad.mit.edu	37	10	95405746	95405746	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	0e5f2772-8881-4af0-afc1-ce1084d8eef4	g.chr10:95405746G>C	ENST00000371447.3	+	15	2015	c.1877G>C	c.(1876-1878)gGt>gCt	p.G626A		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	626					phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	AGACTTCATGGTTCTTCTATT	0.403																																						ENST00000371447.3																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42						c.(1876-1878)gGt>gCt		phosphodiesterase 6C, cGMP-specific, cone, alpha prime							189.0	164.0	173.0					10																	95405746		2203	4300	6503	SO:0001583	missense	5146				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	g.chr10:95405746G>C	U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"""Phosphodiesterases"""	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.1877G>C	10.37:g.95405746G>C	ENSP00000360502:p.Gly626Ala						p.G626A	NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN			15	2015	+		Colorectal(252;0.123)	626					A6NCR6|Q5VY29	Missense_Mutation	SNP	ENST00000371447.3	37	c.1877G>C	CCDS7429.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910695	0.72983	.	.	ENSG00000095464	ENST00000371447	T	0.77358	-1.09	5.31	5.31	0.75309	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.044250	0.85682	D	0.000000	D	0.88074	0.6339	M	0.80982	2.52	0.80722	D	1	D	0.76494	0.999	D	0.67725	0.953	D	0.88987	0.3412	10	0.66056	D	0.02	.	17.3412	0.87297	0.0:0.0:1.0:0.0	.	626	P51160	PDE6C_HUMAN	A	626	ENSP00000360502:G626A	ENSP00000360502:G626A	G	+	2	0	PDE6C	95395736	1.000000	0.71417	0.989000	0.46669	0.446000	0.32137	8.373000	0.90131	2.763000	0.94921	0.563000	0.77884	GGT		0.403	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1	NM_006204		8	37	0	0	0	0.006214	0	8	37				
MUC17	140453	broad.mit.edu	37	7	100681501	100681501	+	Silent	SNP	C	C	T			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	0e5f2772-8881-4af0-afc1-ce1084d8eef4	g.chr7:100681501C>T	ENST00000306151.4	+	3	6868	c.6804C>T	c.(6802-6804)agC>agT	p.S2268S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2268	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AAGGTACCAGCATACCAACTT	0.488																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(6802-6804)agC>agT		mucin 17, cell surface associated							265.0	268.0	267.0					7																	100681501		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681501C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6804C>T	7.37:g.100681501C>T							p.S2268S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	6868	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2268			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.6804C>T	CCDS34711.1																																																																																				0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		42	270	0	0	0	0.008740	0	42	270				
CYP19A1	1588	broad.mit.edu	37	15	51507372	51507372	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	0e5f2772-8881-4af0-afc1-ce1084d8eef4	g.chr15:51507372C>T	ENST00000396402.1	-	8	1069	c.916G>A	c.(916-918)Gca>Aca	p.A306T	CYP19A1_ENST00000396404.4_Missense_Mutation_p.A306T|CYP19A1_ENST00000559878.1_Missense_Mutation_p.A306T|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000260433.2_Missense_Mutation_p.A306T	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	306					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|prostate gland growth (GO:0060736)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)	aromatase activity (GO:0070330)|electron carrier activity (GO:0009055)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)	TCAGGAGCTGCGATCAGCATT	0.403																																					Melanoma(142;1016 1807 39614 48966 51721)	ENST00000396402.1																			0				endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33						c.(916-918)Gca>Aca		cytochrome P450, family 19, subfamily A, polypeptide 1	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)						131.0	124.0	126.0					15																	51507372		2196	4293	6489	SO:0001583	missense	0				estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr15:51507372C>T	D14473	CCDS10139.1	15q21	2009-01-26	2003-02-14	2003-02-28	ENSG00000137869	ENSG00000137869		"""Cytochrome P450s"""	2594	protein-coding gene	gene with protein product		107910	"""cytochrome P450, subfamily XIX (aromatization of androgens)"""	CYP19		8477708	Standard	NM_031226		Approved	ARO, P-450AROM, CPV1, ARO1, CYAR, aromatase	uc001zza.4	P11511	OTTHUMG00000131747	ENST00000396402.1:c.916G>A	15.37:g.51507372C>T	ENSP00000379683:p.Ala306Thr					RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000260433.2_Missense_Mutation_p.A306T|CYP19A1_ENST00000559878.1_Missense_Mutation_p.A306T|CYP19A1_ENST00000396404.4_Missense_Mutation_p.A306T	p.A306T	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN		all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	8	1069	-			306					Q16731|Q3B764|Q58FA0|Q8IYJ7	Missense_Mutation	SNP	ENST00000396402.1	37	c.916G>A	CCDS10139.1	.	.	.	.	.	.	.	.	.	.	C	33	5.272791	0.95429	.	.	ENSG00000137869	ENST00000396402;ENST00000260433;ENST00000396404;ENST00000420301;ENST00000439712	T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.90892	0.7138	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.91686	0.5362	10	0.87932	D	0	-17.7292	20.3539	0.98825	0.0:1.0:0.0:0.0	.	306	P11511	CP19A_HUMAN	T	306	ENSP00000379683:A306T;ENSP00000260433:A306T;ENSP00000379685:A306T;ENSP00000390614:A306T	ENSP00000260433:A306T	A	-	1	0	CYP19A1	49294664	1.000000	0.71417	0.592000	0.28758	0.736000	0.42039	7.480000	0.81109	2.826000	0.97356	0.655000	0.94253	GCA		0.403	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254669.1			17	40	0	0	0	0.007413	0	17	40				
EPB41L1	2036	broad.mit.edu	37	20	34766592	34766592	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	0e5f2772-8881-4af0-afc1-ce1084d8eef4	g.chr20:34766592G>A	ENST00000338074.2	+	5	649	c.488G>A	c.(487-489)cGg>cAg	p.R163Q	EPB41L1_ENST00000373946.3_Missense_Mutation_p.R132Q|EPB41L1_ENST00000373950.2_Missense_Mutation_p.R66Q|EPB41L1_ENST00000373941.1_Missense_Mutation_p.R163Q|EPB41L1_ENST00000202028.5_Missense_Mutation_p.R101Q|EPB41L1_ENST00000441639.1_Missense_Mutation_p.R101Q	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	163	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AAGCAGATCCGGAGTGAGTGG	0.537																																						ENST00000338074.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						c.(487-489)cGg>cAg		erythrocyte membrane protein band 4.1-like 1							127.0	137.0	133.0					20																	34766592		2203	4300	6503	SO:0001583	missense	2036				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	g.chr20:34766592G>A	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.488G>A	20.37:g.34766592G>A	ENSP00000337168:p.Arg163Gln					EPB41L1_ENST00000373946.3_Missense_Mutation_p.R132Q|EPB41L1_ENST00000373941.1_Missense_Mutation_p.R163Q|EPB41L1_ENST00000373950.2_Missense_Mutation_p.R66Q|EPB41L1_ENST00000441639.1_Missense_Mutation_p.R101Q|EPB41L1_ENST00000202028.5_Missense_Mutation_p.R101Q	p.R163Q	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN			5	649	+	Breast(12;0.0239)		163			FERM.		O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	ENST00000338074.2	37	c.488G>A	CCDS13271.1	.	.	.	.	.	.	.	.	.	.	G	33	5.244083	0.95272	.	.	ENSG00000088367	ENST00000202028;ENST00000406771;ENST00000430276;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000452261;ENST00000397307;ENST00000441639;ENST00000373946;ENST00000373945;ENST00000338074;ENST00000373941	T;T;T;T;T;T;T;T;T;T	0.76448	-0.64;-1.02;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64	5.56	5.56	0.83823	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM conserved site (1);	.	.	.	.	D	0.87382	0.6163	M	0.82630	2.6	0.58432	D	0.999992	D;D;B;D;D;D;P	0.89917	0.998;1.0;0.194;0.965;0.999;0.961;0.943	D;D;B;B;D;B;B	0.69479	0.931;0.964;0.212;0.431;0.928;0.325;0.331	D	0.88441	0.3042	9	0.87932	D	0	.	11.8776	0.52556	0.0805:0.0:0.9195:0.0	.	163;163;163;132;66;66;101	B7Z653;Q9H4G0;Q4VXN5;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2	.;E41L1_HUMAN;.;.;.;.;.	Q	101;163;101;66;163;66;163;101;101;132;101;163;163	ENSP00000202028:R101Q;ENSP00000385244:R163Q;ENSP00000404341:R101Q;ENSP00000363061:R66Q;ENSP00000413262:R163Q;ENSP00000399214:R101Q;ENSP00000363057:R132Q;ENSP00000363056:R101Q;ENSP00000337168:R163Q;ENSP00000363052:R163Q	ENSP00000202028:R101Q	R	+	2	0	EPB41L1	34230006	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.008000	0.88588	2.775000	0.95449	0.655000	0.94253	CGG		0.537	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		30	123	0	0	0	0.021022	0	30	123				
CCDC66	285331	broad.mit.edu	37	3	56627995	56627995	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	0e5f2772-8881-4af0-afc1-ce1084d8eef4	g.chr3:56627995T>A	ENST00000394672.3	+	10	1413	c.1343T>A	c.(1342-1344)cTc>cAc	p.L448H	CCDC66_ENST00000436465.2_Missense_Mutation_p.L448H|CCDC66_ENST00000326595.7_Missense_Mutation_p.L414H	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	448					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		ATGACTGCTCTCTTGGACCCA	0.373																																						ENST00000394672.3																			0				breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12						c.(1342-1344)cTc>cAc		coiled-coil domain containing 66							180.0	167.0	172.0					3																	56627995		2203	4300	6503	SO:0001583	missense	285331							g.chr3:56627995T>A	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.1343T>A	3.37:g.56627995T>A	ENSP00000378167:p.Leu448His					CCDC66_ENST00000326595.7_Missense_Mutation_p.L414H|CCDC66_ENST00000436465.2_Missense_Mutation_p.L448H	p.L448H	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)	10	1413	+			448					B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	ENST00000394672.3	37	c.1343T>A	CCDS46852.1	.	.	.	.	.	.	.	.	.	.	T	19.72	3.880810	0.72294	.	.	ENSG00000180376	ENST00000422222;ENST00000394672;ENST00000326595;ENST00000436465	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.96	5.96	0.96718	.	0.062942	0.64402	D	0.000003	T	0.72969	0.3527	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.76642	-0.2884	10	0.87932	D	0	-6.7415	14.658	0.68847	0.0:0.0:0.0:1.0	.	448	A2RUB6	CCD66_HUMAN	H	404;448;414;448	ENSP00000401451:L404H;ENSP00000378167:L448H;ENSP00000326050:L414H;ENSP00000404320:L448H	ENSP00000326050:L414H	L	+	2	0	CCDC66	56603035	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	5.287000	0.65645	2.274000	0.75844	0.477000	0.44152	CTC		0.373	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		18	76	0	0	0	0.008871	0	18	76				
ZXDB	158586	broad.mit.edu	37	X	57619097	57619097	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	0e5f2772-8881-4af0-afc1-ce1084d8eef4	g.chrX:57619097G>A	ENST00000374888.1	+	1	829	c.616G>A	c.(616-618)Ggg>Agg	p.G206R		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	206					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.G206R(2)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CCAGCAGCCCGGGTGTCTGAT	0.711																																						ENST00000374888.1																			2	Substitution - Missense(2)	p.G206R(2)	lung(1)|prostate(1)	NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						c.(616-618)Ggg>Agg		zinc finger, X-linked, duplicated B							12.0	14.0	13.0					X																	57619097		2186	4257	6443	SO:0001583	missense	158586				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chrX:57619097G>A	L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"""Zinc fingers, C2H2-type"""	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.616G>A	X.37:g.57619097G>A	ENSP00000364023:p.Gly206Arg						p.G206R	NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN			1	829	+			206					A8K151|Q9UBB3	Missense_Mutation	SNP	ENST00000374888.1	37	c.616G>A	CCDS35313.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.654782	0.00108	.	.	ENSG00000198455	ENST00000374888	T	0.11063	2.81	2.65	1.78	0.24846	.	0.160870	0.29602	N	0.011697	T	0.04452	0.0122	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41787	-0.9489	10	0.15952	T	0.53	.	4.3042	0.10938	0.3435:0.0:0.6565:0.0	.	206	P98169	ZXDB_HUMAN	R	206	ENSP00000364023:G206R	ENSP00000364023:G206R	G	+	1	0	ZXDB	57635822	0.000000	0.05858	0.002000	0.10522	0.045000	0.14185	-0.287000	0.08388	0.520000	0.28426	0.556000	0.70494	GGG		0.711	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	NM_007157		3	12	0	0	0	0.009096	0	3	12				
SPTBN5	51332	broad.mit.edu	37	15	42162706	42162706	+	Nonsense_Mutation	SNP	G	G	A	rs377166485		TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	0e5f2772-8881-4af0-afc1-ce1084d8eef4	g.chr15:42162706G>A	ENST00000320955.6	-	30	5727	c.5500C>T	c.(5500-5502)Cga>Tga	p.R1834*		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1834					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCGGTGTCTCGGAGCGCGTGG	0.662																																						ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(5500-5502)Cga>Tga		spectrin, beta, non-erythrocytic 5		G	stop/ARG	0,4074		0,0,2037	69.0	74.0	72.0		5395	1.1	0.0	15		72	1,8359		0,1,4179	no	stop-gained	SPTBN5	NM_016642.2		0,1,6216	AA,AG,GG		0.012,0.0,0.0080		1799/3640	42162706	1,12433	2037	4180	6217	SO:0001587	stop_gained	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42162706G>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.5500C>T	15.37:g.42162706G>A	ENSP00000317790:p.Arg1834*						p.R1834*	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	30	5727	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1834						Nonsense_Mutation	SNP	ENST00000320955.6	37	c.5500C>T		.	.	.	.	.	.	.	.	.	.	.	45	11.381725	0.99554	0.0	1.2E-4	ENSG00000137877	ENST00000320955	.	.	.	4.63	1.15	0.20763	.	1.327670	0.05615	N	0.578739	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	10.9758	0.47465	0.0:0.0:0.2596:0.7404	.	.	.	.	X	1834	.	ENSP00000317790:R1834X	R	-	1	2	SPTBN5	39949998	0.009000	0.17119	0.043000	0.18650	0.027000	0.11550	-0.184000	0.09698	-0.004000	0.14419	0.655000	0.94253	CGA		0.662	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		7	43	0	0	0	0.006214	0	7	43				
GEMIN7	79760	broad.mit.edu	37	19	45593388	45593388	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	0e5f2772-8881-4af0-afc1-ce1084d8eef4	g.chr19:45593388A>G	ENST00000270257.4	+	3	263	c.16A>G	c.(16-18)Aac>Gac	p.N6D	CTB-179K24.3_ENST00000586744.1_RNA|PPP1R37_ENST00000421905.1_5'Flank|GEMIN7_ENST00000591747.1_Missense_Mutation_p.N6D|CTB-179K24.3_ENST00000586556.1_RNA|GEMIN7_ENST00000591607.1_Missense_Mutation_p.N6D|PPP1R37_ENST00000221462.4_5'Flank|GEMIN7_ENST00000391951.2_Missense_Mutation_p.N6D	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN	gem (nuclear organelle) associated protein 7	6					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				endometrium(1)|kidney(1)|lung(4)|ovary(1)	7		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		AACTCCAGTGAACATTCCCGT	0.577																																						ENST00000270257.4																			0				endometrium(1)|kidney(1)|lung(4)|ovary(1)	7						c.(16-18)Aac>Gac		gem (nuclear organelle) associated protein 7							93.0	103.0	100.0					19																	45593388		2203	4296	6499	SO:0001583	missense	0				ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding	g.chr19:45593388A>G	AK024018	CCDS12654.1	19q13.32	2008-02-05				ENSG00000142252			20045	protein-coding gene	gene with protein product		607419				12065586	Standard	NM_024707		Approved	FLJ13956	uc002pap.1	Q9H840		ENST00000270257.4:c.16A>G	19.37:g.45593388A>G	ENSP00000270257:p.Asn6Asp					GEMIN7_ENST00000391951.2_Missense_Mutation_p.N6D|GEMIN7_ENST00000591747.1_Missense_Mutation_p.N6D|CTB-179K24.4_ENST00000586744.1_RNA|GEMIN7_ENST00000591607.1_Missense_Mutation_p.N6D|CTB-179K24.3_ENST00000586556.1_RNA	p.N6D	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0131)	3	263	+		Ovarian(192;0.0728)|all_neural(266;0.112)	6					Q6IA34	Missense_Mutation	SNP	ENST00000270257.4	37	c.16A>G	CCDS12654.1	.	.	.	.	.	.	.	.	.	.	A	9.853	1.194246	0.22037	.	.	ENSG00000142252	ENST00000270257;ENST00000391951	.	.	.	4.3	-8.59	0.00893	.	1.732480	0.02806	N	0.123719	T	0.20780	0.0500	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.20075	-1.0286	9	0.15066	T	0.55	-0.025	12.2327	0.54497	0.137:0.3509:0.5121:0.0	.	6	Q9H840	GEMI7_HUMAN	D	6	.	ENSP00000270257:N6D	N	+	1	0	GEMIN7	50285228	0.000000	0.05858	0.000000	0.03702	0.441000	0.31987	-1.298000	0.02756	-2.627000	0.00436	0.449000	0.29647	AAC		0.577	GEMIN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457533.1			35	134	0	0	0	0.006999	0	35	134				
LAMB1	3912	broad.mit.edu	37	7	107580636	107580636	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	0e5f2772-8881-4af0-afc1-ce1084d8eef4	g.chr7:107580636C>T	ENST00000222399.6	-	25	3789	c.3559G>A	c.(3559-3561)Gat>Aat	p.D1187N	LAMB1_ENST00000393561.1_Missense_Mutation_p.D1211N|CTB-13F3.1_ENST00000608515.1_RNA	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1187	Domain II.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						ATGATCACATCCCAGAGAGCA	0.572																																						ENST00000393561.1																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(3631-3633)Gat>Aat		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						146.0	115.0	126.0					7																	107580636		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107580636C>T	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.3559G>A	7.37:g.107580636C>T	ENSP00000222399:p.Asp1187Asn					LAMB1_ENST00000222399.6_Missense_Mutation_p.D1187N	p.D1211N			P07942	LAMB1_HUMAN			23	3815	-			1187			Domain II.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.3631G>A	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896508	0.72639	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.35973	1.28;1.28	5.22	4.32	0.51571	.	.	.	.	.	T	0.35970	0.0950	L	0.46157	1.445	0.80722	D	1	B;B	0.29162	0.235;0.171	B;B	0.33339	0.162;0.121	T	0.33137	-0.9880	9	0.72032	D	0.01	.	14.2363	0.65929	0.0:0.9272:0.0:0.0728	.	1187;1211	P07942;G3XAI2	LAMB1_HUMAN;.	N	1211;1187	ENSP00000377191:D1211N;ENSP00000222399:D1187N	ENSP00000222399:D1187N	D	-	1	0	LAMB1	107367872	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	5.615000	0.67702	2.712000	0.92718	0.563000	0.77884	GAT		0.572	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		11	94	0	0	0	0.008291	0	11	94				
FAM8A1	51439	broad.mit.edu	37	6	17605181	17605181	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	0e5f2772-8881-4af0-afc1-ce1084d8eef4	g.chr6:17605181A>G	ENST00000259963.3	+	3	933	c.878A>G	c.(877-879)gAt>gGt	p.D293G		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	293	RDD.					integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			GAAGAAATAGATGAAGACACA	0.323																																						ENST00000259963.3																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(877-879)gAt>gGt		family with sequence similarity 8, member A1							101.0	107.0	105.0					6																	17605181		2202	4300	6502	SO:0001583	missense	51439					integral to membrane		g.chr6:17605181A>G	AF097027	CCDS4540.1	6p23	2010-11-22			ENSG00000137414	ENSG00000137414			16372	protein-coding gene	gene with protein product						11707071	Standard	NM_016255		Approved	AHCP	uc003ncc.3	Q9UBU6	OTTHUMG00000014309	ENST00000259963.3:c.878A>G	6.37:g.17605181A>G	ENSP00000259963:p.Asp293Gly						p.D293G	NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	all cancers(50;0.176)|Epithelial(50;0.204)		3	933	+	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	293			RDD.		B2R725	Missense_Mutation	SNP	ENST00000259963.3	37	c.878A>G	CCDS4540.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.356210	0.82243	.	.	ENSG00000137414	ENST00000542476;ENST00000259963	.	.	.	5.84	4.63	0.57726	RDD (1);	0.000000	0.85682	D	0.000000	T	0.71821	0.3385	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.75465	-0.3308	9	0.62326	D	0.03	-12.7336	12.424	0.55536	0.8746:0.0:0.0:0.1254	.	293	Q9UBU6	FA8A1_HUMAN	G	43;293	.	ENSP00000259963:D293G	D	+	2	0	FAM8A1	17713160	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.907000	0.92634	2.230000	0.72887	0.455000	0.32223	GAT		0.323	FAM8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039950.1			8	33	0	0	0	0.003080	0	8	33				
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	0e5f2772-8881-4af0-afc1-ce1084d8eef4	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T	ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	634							ion channel inhibitor activity (GO:0008200)	p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.I634T(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1900-1902)aTa>aCa		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593000A>G	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1901T>C	2.37:g.96593000A>G	ENSP00000403302:p.Ile634Thr						p.I634T							28	1985	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1901T>C		.	.	.	.	.	.	.	.	.	.	a	7.838	0.721224	0.15372	.	.	ENSG00000174501	ENST00000456556	T	0.77229	-1.08	0.578	-1.16	0.09678	.	.	.	.	.	T	0.70718	0.3256	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.56153	-0.8026	6	0.08381	T	0.77	.	.	.	.	.	.	.	.	T	634	ENSP00000403302:I634T	ENSP00000403302:I634T	I	-	2	0	AC073995.2	95956727	0.016000	0.18221	0.004000	0.12327	0.101000	0.19017	0.588000	0.23924	-0.580000	0.05944	0.163000	0.16589	ATA		0.338	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		5	40	0	0	0	0.001168	0	5	40				
KCNB1	3745	broad.mit.edu	37	20	48098569	48098569	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	0e5f2772-8881-4af0-afc1-ce1084d8eef4	g.chr20:48098569C>T	ENST00000371741.4	-	1	615	c.449G>A	c.(448-450)cGt>cAt	p.R150H		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	150					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	CTCGGCCTCACGCTTGAGCTC	0.577																																						ENST00000371741.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(448-450)cGt>cAt		potassium voltage-gated channel, Shab-related subfamily, member 1							160.0	129.0	139.0					20																	48098569		2203	4300	6503	SO:0001583	missense	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:48098569C>T	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.449G>A	20.37:g.48098569C>T	ENSP00000360806:p.Arg150His						p.R150H	NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		1	615	-			150					Q14193	Missense_Mutation	SNP	ENST00000371741.4	37	c.449G>A	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.784237	0.90282	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.96459	-4.02	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.94650	0.8275	L	0.58302	1.8	0.80722	D	1	P	0.44006	0.824	B	0.37304	0.246	D	0.94896	0.8052	10	0.51188	T	0.08	.	18.4287	0.90618	0.0:1.0:0.0:0.0	.	150	Q14721	KCNB1_HUMAN	H	150;105	ENSP00000360806:R150H	ENSP00000360806:R150H	R	-	2	0	KCNB1	47531976	1.000000	0.71417	0.969000	0.41365	0.992000	0.81027	7.651000	0.83577	2.676000	0.91093	0.563000	0.77884	CGT		0.577	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		7	97	0	0	0	0.001984	0	7	97				
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823		TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	0e5f2772-8881-4af0-afc1-ce1084d8eef4	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N	ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	626							ion channel inhibitor activity (GO:0008200)	p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D626N(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1876-1878)Gat>Aat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593025C>T	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1876G>A	2.37:g.96593025C>T	ENSP00000403302:p.Asp626Asn						p.D626N							28	1960	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1876G>A		.	.	.	.	.	.	.	.	.	.	c	12.80	2.046325	0.36085	.	.	ENSG00000174501	ENST00000456556	T	0.77098	-1.07	0.578	0.578	0.17391	.	.	.	.	.	T	0.80454	0.4626	M	0.70275	2.135	0.80722	P	0.0	.	.	.	.	.	.	T	0.82748	-0.0304	5	0.51188	T	0.08	.	.	.	.	.	.	.	.	N	626	ENSP00000403302:D626N	ENSP00000403302:D626N	D	-	1	0	AC073995.2	95956752	0.005000	0.15991	0.002000	0.10522	0.010000	0.07245	1.620000	0.36976	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		5	39	0	0	0	0.001168	0	5	39				
CORO1B	57175	broad.mit.edu	37	11	67205932	67205932	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	0e5f2772-8881-4af0-afc1-ce1084d8eef4	g.chr11:67205932G>T	ENST00000341356.5	-	11	1495	c.1385C>A	c.(1384-1386)gCc>gAc	p.A462D	PTPRCAP_ENST00000326294.3_5'Flank|CORO1B_ENST00000539724.1_5'UTR|CORO1B_ENST00000393893.1_Missense_Mutation_p.A462D	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	462					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|endothelial cell chemotaxis (GO:0035767)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|positive regulation of lamellipodium morphogenesis (GO:2000394)|protein localization to cell leading edge (GO:1902463)|ruffle organization (GO:0031529)|wound healing (GO:0042060)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|identical protein binding (GO:0042802)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CGCCCTCAGGGCCCGCAGCTC	0.682																																						ENST00000393893.1																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13						c.(1384-1386)gCc>gAc		coronin, actin binding protein, 1B							38.0	40.0	39.0					11																	67205932		2200	4295	6495	SO:0001583	missense	57175				actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding	g.chr11:67205932G>T	AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725		"""Coronins"", ""WD repeat domain containing"""	2253	protein-coding gene	gene with protein product		609849	"""coronin, actin-binding protein, 1B"""			9778037	Standard	NM_001018070		Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.1385C>A	11.37:g.67205932G>T	ENSP00000340211:p.Ala462Asp					CORO1B_ENST00000341356.5_Missense_Mutation_p.A462D|CORO1B_ENST00000539724.1_5'UTR	p.A462D	NM_001018070.2	NP_001018080.1	Q9BR76	COR1B_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		12	1488	-			462					B2RD45	Missense_Mutation	SNP	ENST00000341356.5	37	c.1385C>A	CCDS8164.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.492621	0.26774	.	.	ENSG00000172725	ENST00000393893;ENST00000341356	T;T	0.61627	0.09;0.09	4.97	1.92	0.25849	.	0.424542	0.17480	N	0.172751	T	0.38401	0.1039	L	0.29908	0.895	0.21445	N	0.999684	B	0.06786	0.001	B	0.06405	0.002	T	0.15037	-1.0451	10	0.29301	T	0.29	-4.9948	4.9757	0.14138	0.0832:0.1455:0.6212:0.1501	.	462	Q9BR76	COR1B_HUMAN	D	462	ENSP00000377471:A462D;ENSP00000340211:A462D	ENSP00000340211:A462D	A	-	2	0	CORO1B	66962508	0.001000	0.12720	0.287000	0.24848	0.686000	0.39977	0.788000	0.26872	0.653000	0.30826	-0.320000	0.08662	GCC		0.682	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396220.1	NM_020441		7	59	1	0	2.7689e-08	0.001984	3.20609e-08	7	59				
EIF4G3	8672	broad.mit.edu	37	1	21205816	21205816	+	Splice_Site	SNP	C	C	G			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	0e5f2772-8881-4af0-afc1-ce1084d8eef4	g.chr1:21205816C>G	ENST00000264211.8	-	14	2648	c.2454G>C	c.(2452-2454)acG>acC	p.T818T	EIF4G3_ENST00000536266.1_Splice_Site_p.T422T|EIF4G3_ENST00000602326.1_Splice_Site_p.T824T|EIF4G3_ENST00000537738.1_Splice_Site_p.T308T|EIF4G3_ENST00000374937.3_Splice_Site_p.T824T|EIF4G3_ENST00000400422.1_Splice_Site_p.T818T|EIF4G3_ENST00000374935.3_Splice_Site_p.T538T	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	818	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.|eIF3/EIF4A-binding. {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.T824T(1)|p.T818T(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CTCTTCTTACCGTTACTAGAC	0.443																																						ENST00000602326.1																			2	Substitution - coding silent(2)	p.T824T(1)|p.T818T(1)	lung(2)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70						c.e18+1		eukaryotic translation initiation factor 4 gamma, 3							116.0	117.0	116.0					1																	21205816		2203	4300	6503	SO:0001630	splice_region_variant	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21205816C>G	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.2454+1G>C	1.37:g.21205816C>G						EIF4G3_ENST00000536266.1_Splice_Site_p.T422_splice|EIF4G3_ENST00000374935.3_Splice_Site_p.T538_splice|EIF4G3_ENST00000374937.3_Splice_Site_p.T824_splice|EIF4G3_ENST00000537738.1_Splice_Site_p.T308_splice|EIF4G3_ENST00000400422.1_Splice_Site_p.T818_splice|EIF4G3_ENST00000264211.8_Splice_Site_p.T818_splice	p.T824_splice	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	18	3055	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	818			MIF4G.|eIF3/EIF4A-binding (By similarity).		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Splice_Site	SNP	ENST00000264211.8	37	c.2472_splice	CCDS214.1																																																																																				0.443	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760	Silent	15	70	0	0	0	0.003163	0	15	70				
ZIC5	85416	broad.mit.edu	37	13	100617974	100617974	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	0e5f2772-8881-4af0-afc1-ce1084d8eef4	g.chr13:100617974G>C	ENST00000267294.4	-	2	1882	c.1649C>G	c.(1648-1650)cCc>cGc	p.P550R		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	550					cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCAGTAGTAGGGCTTGTCACT	0.493																																						ENST00000267294.4																			0				endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9						c.(1648-1650)cCc>cGc		Zic family member 5							197.0	173.0	181.0					13																	100617974		2203	4300	6503	SO:0001583	missense	85416				cell differentiation	nucleus	DNA binding|zinc ion binding	g.chr13:100617974G>C	AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"""Zinc fingers, C2H2-type"""	20322	protein-coding gene	gene with protein product			"""Zic family member 5 (odd-paired homolog, Drosophila)"""				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1649C>G	13.37:g.100617974G>C	ENSP00000267294:p.Pro550Arg						p.P550R	NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN			2	1882	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		550					Q5VYB0	Missense_Mutation	SNP	ENST00000267294.4	37	c.1649C>G	CCDS9494.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.379946	0.82682	.	.	ENSG00000139800	ENST00000397451;ENST00000267294	T	0.20738	2.05	5.79	5.79	0.91817	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48502	0.1503	M	0.66378	2.025	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.42447	-0.9451	9	0.87932	D	0	.	19.6578	0.95851	0.0:0.0:1.0:0.0	.	550	Q96T25	ZIC5_HUMAN	R	188;550	ENSP00000267294:P550R	ENSP00000267294:P550R	P	-	2	0	ZIC5	99415975	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.864000	0.99589	2.722000	0.93159	0.655000	0.94253	CCC		0.493	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045623.3	NM_033132		19	81	0	0	0	0.006122	0	19	81				
MUC6	4588	broad.mit.edu	37	11	1031058	1031059	+	Splice_Site	INS	-	-	G	rs71464128	byFrequency	TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr11:1031058_1031059insG	ENST00000421673.2	-	6	625		c.e6-2			NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming						cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGAACTTGCCTGGGGTGCAGAA	0.703													GGGGG|GGGG|GGGGG|deletion	644	0.128594	0.348	0.0879	5008	,	,		7216	0.002		0.0895	False		,,,				2504	0.0317					ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.e6-2		mucin 6, oligomeric mucus/gel-forming				1070,2502		189,692,905						2.3	0.8		dbSNP_130	29	606,7194		45,516,3339	no	splice-3	MUC6	NM_005961.2		234,1208,4244	A1A1,A1R,RR		7.7692,29.9552,14.738				1676,9696				SO:0001630	splice_region_variant	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1031058_1031059insG	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.575-2->C	11.37:g.1031062_1031062dupG								NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	6	625	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)						O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Splice_Site	INS	ENST00000421673.2	37		CCDS44513.1																																																																																				0.703	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540	Intron	3	6						3	6	---	---	---	---
SCUBE2	57758	broad.mit.edu	37	11	9113009	9113011	+	In_Frame_Del	DEL	GCA	GCA	-	rs142900716|rs59844091		TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr11:9113009_9113011delGCA	ENST00000309263.3	-	1	137_139	c.65_67delTGC	c.(64-69)ctgccg>ccg	p.L22del	SCUBE2_ENST00000457346.2_In_Frame_Del_p.L22del|MIR5691_ENST00000579525.1_RNA|SCUBE2_ENST00000450649.2_In_Frame_Del_p.L22del|SCUBE2_ENST00000534295.1_Intron|SCUBE2_ENST00000520467.1_In_Frame_Del_p.L22del			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	22						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		agcagtggcggcagcagcagcag	0.788																																						ENST00000457346.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(64-69)ccg>c		signal peptide, CUB domain, EGF-like 2			,	125,51		61,3,24					,		0.2		dbSNP_134	1	181,401		88,5,198	no	coding,coding	SCUBE2	NM_020974.2,NM_001170690.1	,	149,8,222	A1A1,A1R,RR		31.0997,28.9773,40.3694	,	,		306,452				SO:0001651	inframe_deletion	57758					extracellular region	calcium ion binding	g.chr11:9113009_9113011delGCA	AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.65_67delTGC	11.37:g.9113018_9113020delGCA	ENSP00000310658:p.Leu22del					SCUBE2_ENST00000309263.3_In_Frame_Del_p.LP22del|SCUBE2_ENST00000534295.1_Intron|SCUBE2_ENST00000520467.1_In_Frame_Del_p.LP22del|SCUBE2_ENST00000450649.2_In_Frame_Del_p.LP22del	p.LP22del			Q9NQ36	SCUB2_HUMAN		all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)	1	139_141	-			22					Q2NKQ8|Q6ZWI1	In_Frame_Del	DEL	ENST00000309263.3	37	c.65_67delTGC																																																																																					0.788	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974		2	4						2	4	---	---	---	---
ADCY4	196883	broad.mit.edu	37	14	24792632	24792632	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr14:24792632delG	ENST00000310677.4	-	18	2188	c.2075delC	c.(2074-2076)cctfs	p.P692fs	ADCY4_ENST00000396747.3_Frame_Shift_Del_p.P385fs|ADCY4_ENST00000554068.2_Frame_Shift_Del_p.P692fs|ADCY4_ENST00000418030.2_Frame_Shift_Del_p.P692fs	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	692					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|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)|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)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		AGCTTGGAAAGGGCAGTCTGA	0.542																																						ENST00000310677.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2074-2076)ctfs		adenylate cyclase 4							76.0	54.0	62.0					14																	24792632		2194	4276	6470	SO:0001589	frameshift_variant	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24792632delG	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.2075delC	14.37:g.24792632delG	ENSP00000312126:p.Pro692fs					ADCY4_ENST00000396747.3_Frame_Shift_Del_p.P385fs|ADCY4_ENST00000554068.2_Frame_Shift_Del_p.P692fs|ADCY4_ENST00000418030.2_Frame_Shift_Del_p.P692fs	p.P692fs	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	18	2188	-			692					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Frame_Shift_Del	DEL	ENST00000310677.4	37	c.2075delC	CCDS9627.1																																																																																				0.542	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			2	4						2	4	---	---	---	---
TMEM132E	124842	broad.mit.edu	37	17	32957047	32957047	+	Frame_Shift_Del	DEL	G	G	-	rs189572250		TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr17:32957047delG	ENST00000321639.5	+	6	1417	c.1089delG	c.(1087-1089)acgfs	p.T363fs		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	363						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TCATCAACACGGCCATTCTGA	0.602																																						ENST00000321639.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57						c.(1087-1089)acfs		transmembrane protein 132E							99.0	69.0	79.0					17																	32957047		2203	4300	6503	SO:0001589	frameshift_variant	124842					integral to membrane		g.chr17:32957047delG	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.1089delG	17.37:g.32957047delG	ENSP00000316532:p.Thr363fs						p.T363fs	NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	6	1417	+			363					Q8WUF4|Q8WVA5	Frame_Shift_Del	DEL	ENST00000321639.5	37	c.1089delG	CCDS11283.1																																																																																				0.602	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		9	46						9	46	---	---	---	---
LMTK3	114783	broad.mit.edu	37	19	48994757	48994758	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr19:48994757_48994758insG	ENST00000600059.1	-	13	4358_4359	c.4131_4132insC	c.(4129-4134)cccgagfs	p.E1378fs	LMTK3_ENST00000270238.3_Frame_Shift_Ins_p.E1407fs			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	1378	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GTGTCCCCCTCGGGGGGGGCCT	0.658																																						ENST00000600059.1																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16						c.(4129-4134)ccagggfs		lemur tyrosine kinase 3																																				SO:0001589	frameshift_variant	114783							g.chr19:48994757_48994758insG	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.4132dupC	19.37:g.48994765_48994765dupG	ENSP00000472020:p.Glu1378fs					LMTK3_ENST00000270238.3_Frame_Shift_Ins_p.G1407fs	p.G1378fs						OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	13	4358_4359	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)						Q4G0U1	Frame_Shift_Ins	INS	ENST00000600059.1	37	c.4131_4132insC																																																																																					0.658	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		4	7						4	7	---	---	---	---
NECAB3	63941	broad.mit.edu	37	20	32245753	32245753	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr20:32245753delA	ENST00000246190.6	-	11	1212	c.1157delT	c.(1156-1158)ttcfs	p.F386fs	RP1-63M2.6_ENST00000607224.1_RNA|NECAB3_ENST00000375238.4_Frame_Shift_Del_p.F352fs|NECAB3_ENST00000606525.1_5'UTR	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	386					protein metabolic process (GO:0019538)|protein secretion (GO:0009306)|regulation of amyloid precursor protein biosynthetic process (GO:0042984)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|Golgi cis cisterna (GO:0000137)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			large_intestine(3)|lung(5)|skin(2)	10						CATACCTGGGAAGAACACAGT	0.682																																						ENST00000246190.6																			0				large_intestine(3)|lung(5)|skin(2)	10						c.(1156-1158)tcfs		N-terminal EF-hand calcium binding protein 3							33.0	44.0	40.0					20																	32245753		2021	4150	6171	SO:0001589	frameshift_variant	63941				antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	endoplasmic reticulum membrane|Golgi cis cisterna|nucleus	calcium ion binding|oxidoreductase activity|protein binding	g.chr20:32245753delA	AB039947	CCDS42866.1, CCDS42867.1	20q11.21	2013-01-10	2007-12-06	2007-12-06	ENSG00000125967	ENSG00000125967		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	15851	protein-coding gene	gene with protein product	"""EF-hand calcium binding protein 3"""	612478	"""amyloid beta (A4) precursor protein-binding, family A, member 2 binding protein"""	SYTIP2, APBA2BP		10833507	Standard	NM_031232		Approved	XB51, dJ63M2.4, NIP1, dJ63M2.5, EFCBP3	uc002wzn.4	Q96P71	OTTHUMG00000032264	ENST00000246190.6:c.1157delT	20.37:g.32245753delA	ENSP00000246190:p.Phe386fs					NECAB3_ENST00000606525.1_5'UTR|NECAB3_ENST00000375238.4_Frame_Shift_Del_p.F352fs	p.F386fs	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN			11	1212	-			386					A8K780|E1P5N2|Q5JWF5|Q5JWF6|Q5JWF7|Q86VV1|Q9H433|Q9H8G8|Q9HBW7|Q9HCQ9	Frame_Shift_Del	DEL	ENST00000246190.6	37	c.1157delT	CCDS42866.1																																																																																				0.682	NECAB3-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078724.2			2	4						2	4	---	---	---	---
GNB2	2783	broad.mit.edu	37	7	100274423	100274424	+	Splice_Site	DEL	GT	GT	-	rs138290543		TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	0e5f2772-8881-4af0-afc1-ce1084d8eef4	g.chr7:100274423_100274424delGT	ENST00000303210.4	+	4	685		c.e4+1		GNB2_ENST00000393926.1_Splice_Site|GNB2_ENST00000436220.1_Splice_Site|GNB2_ENST00000393924.1_Splice_Site|GNB2_ENST00000424361.1_Splice_Site|GNB2_ENST00000427895.1_Intron|GNB2_ENST00000419828.1_Intron	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2						cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	calcium channel regulator activity (GO:0005246)|GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				CCGACTCAAGGTGTGTGTGTGT	0.634																																						ENST00000303210.4																			0				endometrium(1)|lung(3)|ovary(2)|prostate(1)	7						c.e4+1		guanine nucleotide binding protein (G protein), beta polypeptide 2				15,310,3909		0,0,15,2,306,1794						4.3	1.0		dbSNP_134	32	23,503,7706		0,0,23,2,499,3592	no	splice-5	GNB2	NM_005273.3		0,0,38,4,805,5386	A1A1,A1A2,A1R,A2A2,A2R,RR		6.3897,7.676,6.8266				38,813,11615				SO:0001630	splice_region_variant	2783				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr7:100274423_100274424delGT	M16514	CCDS5703.1	7q21.3-q22.1	2013-01-10			ENSG00000172354	ENSG00000172354		"""WD repeat domain containing"""	4398	protein-coding gene	gene with protein product	"""G protein, beta-2 subunit"", ""guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2"", ""signal-transducing guanine nucleotide-binding regulatory protein beta subunit"", ""transducin beta chain 2"""	139390				9799793	Standard	NM_005273		Approved		uc003uwb.3	P62879	OTTHUMG00000137419	ENST00000303210.4:c.203+1GT>-	7.37:g.100274433_100274434delGT						GNB2_ENST00000393924.1_Splice_Site|GNB2_ENST00000424361.1_Splice_Site|GNB2_ENST00000436220.1_Splice_Site|GNB2_ENST00000393926.1_Splice_Site|GNB2_ENST00000427895.1_Intron|GNB2_ENST00000419828.1_Intron		NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN			4	685	+	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)						B3KPU1|P11016|P54312	Splice_Site	DEL	ENST00000303210.4	37		CCDS5703.1																																																																																				0.634	GNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268391.2	NM_005273	Intron	3	4						3	4	---	---	---	---
TMEM132E	124842	broad.mit.edu	37	17	32957047	32957047	+	Frame_Shift_Del	DEL	G	G	-	rs189572250		TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	0e5f2772-8881-4af0-afc1-ce1084d8eef4	g.chr17:32957047delG	ENST00000321639.5	+	6	1417	c.1089delG	c.(1087-1089)acgfs	p.T363fs		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	363						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TCATCAACACGGCCATTCTGA	0.602																																						ENST00000321639.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57						c.(1087-1089)acfs		transmembrane protein 132E							99.0	69.0	79.0					17																	32957047		2203	4300	6503	SO:0001589	frameshift_variant	124842					integral to membrane		g.chr17:32957047delG	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.1089delG	17.37:g.32957047delG	ENSP00000316532:p.Thr363fs						p.T363fs	NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	6	1417	+			363					Q8WUF4|Q8WVA5	Frame_Shift_Del	DEL	ENST00000321639.5	37	c.1089delG	CCDS11283.1																																																																																				0.602	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		9	46						9	46	---	---	---	---
POLI	11201	broad.mit.edu	37	18	51795958	51795960	+	In_Frame_Del	DEL	CGA	CGA	-	rs78943519|rs10584411|rs3729509	byFrequency	TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	0e5f2772-8881-4af0-afc1-ce1084d8eef4	g.chr18:51795958_51795960delCGA	ENST00000579534.1	+	1	185_187	c.42_44delCGA	c.(40-45)ggcgac>ggc	p.D17del	POLI_ENST00000406285.3_In_Frame_Del_p.D17del|POLI_ENST00000217800.5_5'Flank|POLI_ENST00000579434.1_5'UTR	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	17					DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.D17delD(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AAGGCGGCGGCGACGACGACGAG	0.729								DNA polymerases (catalytic subunits)						3926	0.783946	0.9705	0.6427	5008	,	,		12312	0.7054		0.7078	False		,,,				2504	0.7914					ENST00000579534.1																			1	Deletion - In frame(1)	p.D17delD(1)	large_intestine(1)	breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26						c.(40-45)ggc>gg	DNA polymerases (catalytic subunits)	polymerase (DNA directed) iota				3523,343		1644,235,54						1.5	0.0		dbSNP_119	14	5235,2405		1985,1265,570	no	coding	POLI	NM_007195.2		3629,1500,624	A1A1,A1R,RR		31.4791,8.8722,23.8832				8758,2748				SO:0001651	inframe_deletion	11201				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding	g.chr18:51795958_51795960delCGA		CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"""DNA polymerases"""	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.42_44delCGA	18.37:g.51795967_51795969delCGA	ENSP00000462664:p.Asp17del					POLI_ENST00000406285.3_In_Frame_Del_p.GD14del|POLI_ENST00000579434.1_5'UTR	p.GD14del	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN		Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)	1	185_187	+			14					Q8N590|Q9H0S1|Q9NYH6	In_Frame_Del	DEL	ENST00000579534.1	37	c.42_44delCGA	CCDS11954.2																																																																																				0.729	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195		2	4						2	4	---	---	---	---
LMTK3	114783	broad.mit.edu	37	19	48994757	48994758	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	0e5f2772-8881-4af0-afc1-ce1084d8eef4	g.chr19:48994757_48994758insG	ENST00000600059.1	-	13	4358_4359	c.4131_4132insC	c.(4129-4134)cccgagfs	p.E1378fs	LMTK3_ENST00000270238.3_Frame_Shift_Ins_p.E1407fs			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	1378	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GTGTCCCCCTCGGGGGGGGCCT	0.658																																						ENST00000600059.1																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16						c.(4129-4134)ccagggfs		lemur tyrosine kinase 3																																				SO:0001589	frameshift_variant	114783							g.chr19:48994757_48994758insG	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.4132dupC	19.37:g.48994765_48994765dupG	ENSP00000472020:p.Glu1378fs					LMTK3_ENST00000270238.3_Frame_Shift_Ins_p.G1407fs	p.G1378fs						OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	13	4358_4359	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)						Q4G0U1	Frame_Shift_Ins	INS	ENST00000600059.1	37	c.4131_4132insC																																																																																					0.658	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		4	7						4	7	---	---	---	---
NECAB3	63941	broad.mit.edu	37	20	32245753	32245753	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	0e5f2772-8881-4af0-afc1-ce1084d8eef4	g.chr20:32245753delA	ENST00000246190.6	-	11	1212	c.1157delT	c.(1156-1158)ttcfs	p.F386fs	RP1-63M2.6_ENST00000607224.1_RNA|NECAB3_ENST00000375238.4_Frame_Shift_Del_p.F352fs|NECAB3_ENST00000606525.1_5'UTR	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	386					protein metabolic process (GO:0019538)|protein secretion (GO:0009306)|regulation of amyloid precursor protein biosynthetic process (GO:0042984)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|Golgi cis cisterna (GO:0000137)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			large_intestine(3)|lung(5)|skin(2)	10						CATACCTGGGAAGAACACAGT	0.682																																						ENST00000246190.6																			0				large_intestine(3)|lung(5)|skin(2)	10						c.(1156-1158)tcfs		N-terminal EF-hand calcium binding protein 3							33.0	44.0	40.0					20																	32245753		2021	4150	6171	SO:0001589	frameshift_variant	63941				antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	endoplasmic reticulum membrane|Golgi cis cisterna|nucleus	calcium ion binding|oxidoreductase activity|protein binding	g.chr20:32245753delA	AB039947	CCDS42866.1, CCDS42867.1	20q11.21	2013-01-10	2007-12-06	2007-12-06	ENSG00000125967	ENSG00000125967		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	15851	protein-coding gene	gene with protein product	"""EF-hand calcium binding protein 3"""	612478	"""amyloid beta (A4) precursor protein-binding, family A, member 2 binding protein"""	SYTIP2, APBA2BP		10833507	Standard	NM_031232		Approved	XB51, dJ63M2.4, NIP1, dJ63M2.5, EFCBP3	uc002wzn.4	Q96P71	OTTHUMG00000032264	ENST00000246190.6:c.1157delT	20.37:g.32245753delA	ENSP00000246190:p.Phe386fs					NECAB3_ENST00000375238.4_Frame_Shift_Del_p.F352fs|NECAB3_ENST00000606525.1_5'UTR	p.F386fs	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN			11	1212	-			386					A8K780|E1P5N2|Q5JWF5|Q5JWF6|Q5JWF7|Q86VV1|Q9H433|Q9H8G8|Q9HBW7|Q9HCQ9	Frame_Shift_Del	DEL	ENST00000246190.6	37	c.1157delT	CCDS42866.1																																																																																				0.682	NECAB3-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078724.2			2	4						2	4	---	---	---	---
MIR3687-2	103504728	broad.mit.edu	37	21	9825838	9825839	+	RNA	INS	-	-	GCG	rs372061766|rs369177681|rs563875271	byFrequency	TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	0e5f2772-8881-4af0-afc1-ce1084d8eef4	g.chr21:9825838_9825839insGCG	ENST00000577708.1	+	0	0				MIR3648_ENST00000581792.1_RNA	NR_037458.1																						cggccgcgactgcggcggcggt	0.842																																						ENST00000581792.1																			0																																																			0							g.chr21:9825838_9825839insGCG																													21.37:g.9825845_9825847dupGCG								NR_037421.1						0	7_8	+									RNA	INS	ENST00000577708.1	37																																																																																						0.842	MIR3687-201	KNOWN	basic	miRNA	miRNA				7	1						7	1	---	---	---	---
