#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	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CELSR2	1952	broad.mit.edu	37	1	109794178	109794178	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr1:109794178G>A	ENST00000271332.3	+	1	1538	c.1477G>A	c.(1477-1479)Gta>Ata	p.V493I		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	493	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTTGGTGACAGTACAGGTCCT	0.567																																					NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.3		NA																	0				ovary(4)|lung(3)|skin(1)	8						c.(1477-1479)GTA>ATA		cadherin EGF LAG seven-pass G-type receptor 2							171.0	151.0	158.0					1																	109794178		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109794178G>A	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.1477G>A	1.37:g.109794178G>A	ENSP00000271332:p.Val493Ile						p.V493I	NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	1538	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	493			Cadherin 3.|Extracellular (Potential).		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.1477G>A	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	11.64	1.699848	0.30142	.	.	ENSG00000143126	ENST00000271332	T	0.62232	0.04	4.82	4.82	0.62117	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.16685	0.0401	N	0.01874	-0.695	0.44282	D	0.997142	B	0.24368	0.102	B	0.35470	0.203	T	0.28964	-1.0027	9	0.05620	T	0.96	.	9.2163	0.37348	0.1308:0.0:0.8692:0.0	.	493	Q9HCU4	CELR2_HUMAN	I	493	ENSP00000271332:V493I	ENSP00000271332:V493I	V	+	1	0	CELSR2	109595701	0.998000	0.40836	0.999000	0.59377	0.978000	0.69477	2.578000	0.46051	2.543000	0.85770	0.555000	0.69702	GTA		0.567	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		4	183	0	0	0	0	4	183				
FLG	2312	broad.mit.edu	37	1	152286334	152286334	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr1:152286334C>T	ENST00000368799.1	-	3	1063	c.1028G>A	c.(1027-1029)aGa>aAa	p.R343K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	343	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGACTGGCTCTGTCTTCATC	0.562									Ichthyosis																													uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(1027-1029)AGA>AAA		filaggrin							228.0	227.0	228.0					1																	152286334		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152286334C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1028G>A	1.37:g.152286334C>T	ENSP00000357789:p.Arg343Lys					uc001ezv.2_RNA	p.R343K	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1064	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		343			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.1028G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	12.18	1.859397	0.32884	.	.	ENSG00000143631	ENST00000368799	T	0.03920	3.76	3.34	1.18	0.20946	.	.	.	.	.	T	0.03011	0.0089	M	0.65975	2.015	0.09310	N	1	P	0.52170	0.951	P	0.57057	0.812	T	0.19257	-1.0311	9	0.06891	T	0.86	-2.0141	4.111	0.10058	0.0:0.6092:0.2322:0.1586	.	343	P20930	FILA_HUMAN	K	343	ENSP00000357789:R343K	ENSP00000357789:R343K	R	-	2	0	FLG	150552958	0.003000	0.15002	0.000000	0.03702	0.009000	0.06853	-0.351000	0.07711	0.149000	0.19098	0.400000	0.26472	AGA		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		10	238	0	0	0	0	10	238				
CFHR2	3080	broad.mit.edu	37	1	196918742	196918742	+	Silent	SNP	C	C	T	rs549841110		TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr1:196918742C>T	ENST00000367415.5	+	2	316	c.216C>T	c.(214-216)tgC>tgT	p.C72C	CFHR2_ENST00000496448.1_Intron|CFHR2_ENST00000367421.3_Silent_p.C72C|CFHR2_ENST00000476712.2_Silent_p.C72C	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	72	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						GCATAACGTGCGCAGAAGAAG	0.408													c|||	1	0.000199681	0.0008	0.0	5008	,	,		18598	0.0		0.0	False		,,,				2504	0.0					uc001gtq.1		NA																	0				skin(2)|ovary(1)	3						c.(214-216)TGC>TGT		H factor (complement)-like 3 precursor							101.0	88.0	93.0					1																	196918742		2203	4300	6503	SO:0001819	synonymous_variant	3080					extracellular region		g.chr1:196918742C>T	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367415.5:c.216C>T	1.37:g.196918742C>T						CFHR2_uc001gtr.1_Intron	p.C72C	NM_005666	NP_005657	P36980	FHR2_HUMAN			2	293	+			72			Sushi 1.		Q14310|Q5T9T1	Silent	SNP	ENST00000367415.5	37	c.216C>T	CCDS30959.1																																																																																				0.408	CFHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088815.2	NM_005666		4	40	0	0	0	0	4	40				
CAMK1D	57118	broad.mit.edu	37	10	12867572	12867572	+	Splice_Site	SNP	C	C	G	rs186526367		TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr10:12867572C>G	ENST00000378847.3	+	10	1259	c.922C>G	c.(922-924)Caa>Gaa	p.Q308E	CAMK1D_ENST00000378845.1_Splice_Site_p.Q308E	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	308	Autoinhibitory domain. {ECO:0000250}.|Calmodulin-binding. {ECO:0000250}.				inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		GAAATTTCAGCAAGCATTTAA	0.413																																						uc001ilo.2		NA																	0				ovary(1)|stomach(1)	2						c.(922-924)CAA>GAA		calcium/calmodulin-dependent protein kinase ID							69.0	69.0	69.0					10																	12867572		2203	4300	6503	SO:0001630	splice_region_variant	57118					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr10:12867572C>G	AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.922-1C>G	10.37:g.12867572C>G						CAMK1D_uc001iln.2_Missense_Mutation_p.Q308E	p.Q308E	NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN		GBM - Glioblastoma multiforme(1;3.16e-05)	10	1157	+			308			Autoinhibitory domain (By similarity).|Calmodulin-binding (By similarity).		B0YIY0|Q9HD31	Missense_Mutation	SNP	ENST00000378847.3	37	c.922C>G	CCDS7091.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516408	0.64634	.	.	ENSG00000183049	ENST00000378847;ENST00000378845	T;T	0.66460	-0.21;-0.2	5.45	5.45	0.79879	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.70868	0.3273	M	0.75085	2.285	0.80722	D	1	P;B	0.38992	0.653;0.112	B;B	0.40636	0.335;0.038	T	0.71474	-0.4582	9	.	.	.	-16.4767	18.2842	0.90108	0.0:1.0:0.0:0.0	.	308;308	Q8IU85;Q5SQQ7	KCC1D_HUMAN;.	E	308	ENSP00000368124:Q308E;ENSP00000368122:Q308E	.	Q	+	1	0	CAMK1D	12907578	1.000000	0.71417	1.000000	0.80357	0.170000	0.22686	7.465000	0.80898	2.563000	0.86464	0.650000	0.86243	CAA		0.413	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046820.1	NM_020397	Missense_Mutation	5	80	0	0	0	0	5	80				
PKD2L1	9033	broad.mit.edu	37	10	102056008	102056008	+	Silent	SNP	G	G	C	rs560260660		TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr10:102056008G>C	ENST00000318222.3	-	7	1609	c.1227C>G	c.(1225-1227)ctC>ctG	p.L409L	PKD2L1_ENST00000353274.3_Silent_p.L409L|PKD2L1_ENST00000338519.3_Silent_p.L334L	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	409					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GATTCACCTCGAGGGTTCGGA	0.542																																						uc001kqx.1		NA																	0				ovary(4)	4						c.(1225-1227)CTC>CTG		polycystic kidney disease 2-like 1							78.0	69.0	72.0					10																	102056008		2203	4300	6503	SO:0001819	synonymous_variant	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102056008G>C	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.1227C>G	10.37:g.102056008G>C						PKD2L1_uc009xwm.1_Silent_p.L362L	p.L409L	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	7	1610	-		Colorectal(252;0.117)	409			Cytoplasmic (Potential).		O75972|Q5W039|Q9UP35|Q9UPA2	Silent	SNP	ENST00000318222.3	37	c.1227C>G	CCDS7492.1																																																																																				0.542	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		3	28	0	0	0	0	3	28				
SUFU	51684	broad.mit.edu	37	10	104359280	104359280	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr10:104359280G>A	ENST00000369902.3	+	8	1167	c.1001G>A	c.(1000-1002)gGc>gAc	p.G334D	SUFU_ENST00000423559.2_Missense_Mutation_p.G334D|SUFU_ENST00000471000.1_3'UTR|SUFU_ENST00000369899.2_Missense_Mutation_p.G334D	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	334					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		CGGCAGAATGGCCTCGCCCAC	0.582			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation																													uc001kvy.1		NA	yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	D|F|S	suppressor of fused homolog (Drosophila)			O		medulloblastoma	medulloblastoma		0				central_nervous_system(4)|skin(2)|breast(1)	7						c.(1000-1002)GGC>GAC		suppressor of fused							88.0	82.0	84.0					10																	104359280		2203	4300	6503	SO:0001583	missense	51684	Medulloblastoma_associated_with_Germline_SUFU_Mutation	Familial Cancer Database		negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding	g.chr10:104359280G>A	AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.1001G>A	10.37:g.104359280G>A	ENSP00000358918:p.Gly334Asp					SUFU_uc001kvw.1_Missense_Mutation_p.G334D|SUFU_uc001kvx.2_Missense_Mutation_p.G334D|SUFU_uc009xxe.1_RNA|SUFU_uc009xxf.1_RNA	p.G334D	NM_016169	NP_057253	Q9UMX1	SUFU_HUMAN		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)	8	1147	+		Colorectal(252;0.207)	334					Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Missense_Mutation	SNP	ENST00000369902.3	37	c.1001G>A	CCDS7537.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233824	0.58886	.	.	ENSG00000107882	ENST00000369902;ENST00000369899;ENST00000423559	T;T;T	0.42513	0.97;0.97;0.97	6.07	6.07	0.98685	Suppressor of fused C-terminal (1);	0.172008	0.52532	D	0.000070	T	0.46833	0.1413	N	0.22421	0.69	0.58432	D	0.999991	D;D;D	0.63046	0.983;0.979;0.992	P;P;P	0.57101	0.772;0.662;0.813	T	0.13495	-1.0507	10	0.19590	T	0.45	-21.1443	20.6439	0.99570	0.0:0.0:1.0:0.0	.	334;334;334	Q9UMX1;Q9UMX1-2;Q9UMX1-3	SUFU_HUMAN;.;.	D	334	ENSP00000358918:G334D;ENSP00000358915:G334D;ENSP00000411597:G334D	ENSP00000358915:G334D	G	+	2	0	SUFU	104349270	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.778000	0.75043	2.884000	0.98904	0.655000	0.94253	GGC		0.582	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050089.1	NM_016169		6	51	0	0	0	0	6	51				
TRIM8	81603	broad.mit.edu	37	10	104415877	104415877	+	Silent	SNP	G	G	A			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr10:104415877G>A	ENST00000302424.7	+	4	1037	c.915G>A	c.(913-915)gtG>gtA	p.V305V	TRIM8_ENST00000487927.1_3'UTR	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	305					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|PML body (GO:0016605)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CCAAGTCTGTGAAAATCCTGA	0.637																																						uc001kvz.2		NA																	0				ovary(1)	1						c.(913-915)GTG>GTA		tripartite motif-containing 8							133.0	149.0	144.0					10																	104415877		2203	4300	6503	SO:0001819	synonymous_variant	81603					cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding	g.chr10:104415877G>A	AF281046	CCDS31274.1	10q24.3	2013-01-09	2011-01-25	2002-06-14	ENSG00000171206	ENSG00000171206		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15579	protein-coding gene	gene with protein product	"""glioblastoma expressed ring finger protein"""	606125	"""ring finger protein 27"", ""tripartite motif-containing 8"""	RNF27		11118312, 12163497	Standard	NM_030912		Approved	GERP	uc001kvz.2	Q9BZR9	OTTHUMG00000018964	ENST00000302424.7:c.915G>A	10.37:g.104415877G>A							p.V305V	NM_030912	NP_112174	Q9BZR9	TRIM8_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	4	1038	+		Colorectal(252;0.122)	305					A6NI31|Q9C028	Silent	SNP	ENST00000302424.7	37	c.915G>A	CCDS31274.1																																																																																				0.637	TRIM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050084.3	NM_030912		5	209	0	0	0	0	5	209				
PATL1	219988	broad.mit.edu	37	11	59420024	59420024	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr11:59420024C>T	ENST00000300146.9	-	11	1423	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	447	Involved in nuclear spleckles localization.|Region H.				cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						TGTATTTCTTCAGCAGCTGAC	0.458																																						uc001noe.3		NA																	0				ovary(1)	1						c.(1339-1341)GAA>AAA		protein associated with topoisomerase II homolog							123.0	114.0	117.0					11																	59420024		1902	4115	6017	SO:0001583	missense	219988				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding	g.chr11:59420024C>T	AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.1339G>A	11.37:g.59420024C>T	ENSP00000300146:p.Glu447Lys					PATL1_uc009yms.1_Missense_Mutation_p.E417K|PATL1_uc010rkw.1_Missense_Mutation_p.E152K	p.E447K	NM_152716	NP_689929	Q86TB9	PATL1_HUMAN			11	1482	-			447			Region H.		B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Missense_Mutation	SNP	ENST00000300146.9	37	c.1339G>A	CCDS44613.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.899754	0.72754	.	.	ENSG00000166889	ENST00000300146;ENST00000428532	T	0.44482	0.92	5.38	5.38	0.77491	.	0.109676	0.64402	D	0.000010	T	0.34019	0.0883	L	0.39898	1.24	0.42482	D	0.99286	B;P	0.47034	0.05;0.889	B;B	0.43575	0.021;0.424	T	0.11567	-1.0582	10	0.06625	T	0.88	-15.4565	14.3643	0.66795	0.0:0.8519:0.1481:0.0	.	417;447	Q86TB9-4;Q86TB9	.;PATL1_HUMAN	K	447;417	ENSP00000300146:E447K	ENSP00000300146:E447K	E	-	1	0	PATL1	59176600	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.249000	0.65427	2.518000	0.84900	0.591000	0.81541	GAA		0.458	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394559.1	NM_152716		4	62	0	0	0	0	4	62				
C11orf53	341032	broad.mit.edu	37	11	111154935	111154935	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr11:111154935G>A	ENST00000280325.4	+	3	289	c.142G>A	c.(142-144)Gca>Aca	p.A48T		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	48										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		TGAGTCCTCCGCAGGGCAGAG	0.582																																						uc001plc.2		NA																	0					0						c.(142-144)GCA>ACA		hypothetical protein LOC341032							109.0	117.0	115.0					11																	111154935		2201	4297	6498	SO:0001583	missense	341032							g.chr11:111154935G>A	BC039669	CCDS31674.1	11q23.1	2012-05-31			ENSG00000150750	ENSG00000150750			30527	protein-coding gene	gene with protein product						12477932	Standard	NM_198498		Approved	MGC50104	uc001plc.3	Q8IXP5	OTTHUMG00000166656	ENST00000280325.4:c.142G>A	11.37:g.111154935G>A	ENSP00000280325:p.Ala48Thr						p.A48T	NM_198498	NP_940900	Q8IXP5	CK053_HUMAN		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)	3	289	+		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)	48						Missense_Mutation	SNP	ENST00000280325.4	37	c.142G>A	CCDS31674.1	.	.	.	.	.	.	.	.	.	.	G	6.409	0.443588	0.12164	.	.	ENSG00000150750	ENST00000280325	.	.	.	5.65	3.18	0.36537	.	0.670270	0.14568	N	0.311622	T	0.32704	0.0838	L	0.50333	1.59	0.09310	N	1	B	0.24483	0.104	B	0.20577	0.03	T	0.16541	-1.0399	9	0.21540	T	0.41	-2.2462	7.3076	0.26457	0.1717:0.0:0.69:0.1383	.	48	Q8IXP5	CK053_HUMAN	T	48	.	ENSP00000280325:A48T	A	+	1	0	C11orf53	110660145	0.000000	0.05858	0.004000	0.12327	0.099000	0.18886	-0.056000	0.11787	1.230000	0.43646	0.591000	0.81541	GCA		0.582	C11orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390989.1	NM_198498		7	178	0	0	0	0	7	178				
ESR2	2100	broad.mit.edu	37	14	64746775	64746775	+	Silent	SNP	G	G	A			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr14:64746775G>A	ENST00000341099.4	-	3	876	c.459C>T	c.(457-459)agC>agT	p.S153S	ESR2_ENST00000267525.6_Silent_p.S153S|ESR2_ENST00000358599.5_Silent_p.S153S|ESR2_ENST00000554572.1_Silent_p.S153S|ESR2_ENST00000553796.1_Silent_p.S153S|ESR2_ENST00000357782.2_Silent_p.S153S|ESR2_ENST00000555278.1_Silent_p.S153S|ESR2_ENST00000555483.1_Intron|ESR2_ENST00000557772.1_Silent_p.S153S|ESR2_ENST00000353772.3_Silent_p.S153S|ESR2_ENST00000542956.1_Silent_p.S153S	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	153					brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	ATGCGTAATCGCTGCAGACAG	0.473																																						uc001xha.1		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(457-459)AGC>AGT		estrogen receptor beta isoform 1	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)						251.0	232.0	239.0					14																	64746775		2203	4300	6503	SO:0001819	synonymous_variant	2100				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding	g.chr14:64746775G>A	X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"""Nuclear hormone receptors"""	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.459C>T	14.37:g.64746775G>A						ESR2_uc001xgu.2_Silent_p.S153S|ESR2_uc001xgv.2_Silent_p.S153S|ESR2_uc001xgw.2_RNA|ESR2_uc001xgx.2_Silent_p.S153S|ESR2_uc001xgy.1_Silent_p.S153S|ESR2_uc001xgz.1_Silent_p.S153S|ESR2_uc010aqb.1_Intron|ESR2_uc010aqc.1_Silent_p.S153S	p.S153S	NM_001437	NP_001428	Q92731	ESR2_HUMAN		all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	3	927	-			153			NR C4-type.|Nuclear receptor.		A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Silent	SNP	ENST00000341099.4	37	c.459C>T	CCDS9762.1																																																																																				0.473	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1			12	207	0	0	0	0	12	207				
GALNT1	2589	broad.mit.edu	37	18	33283589	33283589	+	Silent	SNP	C	C	G	rs530236761		TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr18:33283589C>G	ENST00000269195.5	+	10	1618	c.1515C>G	c.(1513-1515)ctC>ctG	p.L505L	GALNT1_ENST00000537549.1_Silent_p.L445L	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	505	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						GCAACCAACTCTGGGAGTATG	0.373																																						uc010dmu.2		NA																	0				ovary(2)	2						c.(1513-1515)CTC>CTG		polypeptide N-acetylgalactosaminyltransferase 1							81.0	79.0	80.0					18																	33283589		2203	4300	6503	SO:0001819	synonymous_variant	2589				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr18:33283589C>G		CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4123	protein-coding gene	gene with protein product	"""protein-UDP acetylgalactosaminyltransferase 1"", ""polypeptide GalNAc transferase 1"""	602273	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)"""			7592619, 12199709	Standard	NM_020474		Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.1515C>G	18.37:g.33283589C>G						GALNT1_uc002kyz.3_Silent_p.L445L|GALNT1_uc002kzb.2_Silent_p.L505L	p.L505L	NM_020474	NP_065207	Q10472	GALT1_HUMAN			11	1568	+			505			Lumenal (Potential).|Ricin B-type lectin.		Q86TJ7|Q9UM86	Silent	SNP	ENST00000269195.5	37	c.1515C>G	CCDS11915.1																																																																																				0.373	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255771.2	NM_020474		4	50	0	0	0	0	4	50				
NOVA2	4858	broad.mit.edu	37	19	46444042	46444042	+	Silent	SNP	G	G	A			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr19:46444042G>A	ENST00000263257.5	-	4	752	c.558C>T	c.(556-558)ccC>ccT	p.P186P		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	186	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				regulation of RNA metabolic process (GO:0051252)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		GCACCTGCTCGGGCTCGCCGC	0.632																																						uc002pdv.2		NA																	0					0						c.(556-558)CCC>CCT		neuro-oncological ventral antigen 2							57.0	34.0	42.0					19																	46444042		2203	4300	6503	SO:0001819	synonymous_variant	4858					nucleus	RNA binding	g.chr19:46444042G>A	U70477	CCDS12679.1	19q13.3	2008-07-17				ENSG00000104967			7887	protein-coding gene	gene with protein product	"""neuro-oncological ventral antigen 3"""	601991		NOVA3		9344654, 10368286	Standard	NM_002516		Approved	ANOVA	uc002pdv.2	Q9UNW9		ENST00000263257.5:c.558C>T	19.37:g.46444042G>A							p.P186P	NM_002516	NP_002507	Q9UNW9	NOVA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)	4	606	-		all_neural(266;0.113)|Ovarian(192;0.127)	186			KH 2.		O43267|Q9UEA1	Silent	SNP	ENST00000263257.5	37	c.558C>T	CCDS12679.1																																																																																				0.632	NOVA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437210.2	NM_002516		3	34	0	0	0	0	3	34				
ATAD2B	54454	broad.mit.edu	37	2	24046267	24046267	+	Silent	SNP	G	G	A			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr2:24046267G>A	ENST00000238789.5	-	16	2335	c.1992C>T	c.(1990-1992)tcC>tcT	p.S664S	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	664						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCACGTTGGGAAGCAGGCA	0.453																																						uc002rek.3		NA																	0				central_nervous_system(1)	1						c.(1990-1992)TCC>TCT		ATPase family, AAA domain containing 2B							81.0	79.0	80.0					2																	24046267		2012	4187	6199	SO:0001819	synonymous_variant	54454						ATP binding|nucleoside-triphosphatase activity	g.chr2:24046267G>A	AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.1992C>T	2.37:g.24046267G>A						ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rej.3_5'UTR	p.S664S	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN			16	2286	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		664					B9ZVQ5|Q6ZNA6|Q8N9E7	Silent	SNP	ENST00000238789.5	37	c.1992C>T	CCDS46227.1																																																																																				0.453	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		3	28	0	0	0	0	3	28				
C2orf16	84226	broad.mit.edu	37	2	27804893	27804893	+	Silent	SNP	G	G	A			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr2:27804893G>A	ENST00000408964.2	+	1	5505	c.5454G>A	c.(5452-5454)ttG>ttA	p.L1818L	RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000556601.1_5'Flank|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000416005.2_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1818	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ACAGTCTCTTGGAGAGGAGCC	0.537																																						uc002rkz.3		NA																	0				large_intestine(1)	1						c.(5452-5454)TTG>TTA		hypothetical protein LOC84226							97.0	100.0	99.0					2																	27804893		1920	4115	6035	SO:0001819	synonymous_variant	84226							g.chr2:27804893G>A	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5454G>A	2.37:g.27804893G>A						ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	p.L1818L	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	5505	+	Acute lymphoblastic leukemia(172;0.155)		1818			27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.		B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	ENST00000408964.2	37	c.5454G>A	CCDS42666.1																																																																																				0.537	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		6	104	0	0	0	0	6	104				
RGPD4	285190	broad.mit.edu	37	2	108488636	108488636	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr2:108488636A>T	ENST00000408999.3	+	20	4253	c.4176A>T	c.(4174-4176)caA>caT	p.Q1392H	RGPD4_ENST00000354986.4_Missense_Mutation_p.Q1392H	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1392	RanBD1 2. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ATAATAAGCAAGTTCGTATAG	0.363																																						uc010ywk.1		NA																	0				skin(2)	2						c.(4174-4176)CAA>CAT		RANBP2-like and GRIP domain containing 4							3.0	4.0	4.0					2																	108488636		565	1302	1867	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108488636A>T	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.4176A>T	2.37:g.108488636A>T	ENSP00000386810:p.Gln1392His					RGPD4_uc002tdu.2_Missense_Mutation_p.Q579H|RGPD4_uc010ywl.1_Intron	p.Q1392H	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN			20	4258	+			1392			RanBD1 2.		B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.4176A>T	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	8.102	0.776849	0.16120	.	.	ENSG00000196862	ENST00000354986;ENST00000408999	T;T	0.44881	0.91;0.91	2.33	-2.74	0.05932	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.28830	0.0715	L	0.42744	1.35	0.24368	N	0.994846	B	0.14012	0.009	B	0.19391	0.025	T	0.34079	-0.9843	9	0.51188	T	0.08	-13.7175	2.9374	0.05819	0.4728:0.0:0.241:0.2862	.	1392	Q7Z3J3	RGPD4_HUMAN	H	1392	ENSP00000347081:Q1392H;ENSP00000386810:Q1392H	ENSP00000347081:Q1392H	Q	+	3	2	RGPD4	107855068	0.353000	0.24904	0.997000	0.53966	0.548000	0.35241	-0.192000	0.09587	-0.238000	0.09724	0.136000	0.15936	CAA		0.363	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		6	246	0	0	0	0	6	246				
CRYGA	1418	broad.mit.edu	37	2	209025578	209025578	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr2:209025578C>T	ENST00000304502.4	-	3	494	c.475G>A	c.(475-477)Ggt>Agt	p.G159S		NM_014617.3	NP_055432.2	P11844	CRGA_HUMAN	crystallin, gamma A	159	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		GCATCTGCACCCCCCCAGTCG	0.537																																						uc002vcq.3		NA																	0					0						c.(475-477)GGT>AGT		crystallin, gamma A							80.0	87.0	85.0					2																	209025578		2203	4300	6503	SO:0001583	missense	1418				visual perception		structural constituent of eye lens	g.chr2:209025578C>T		CCDS33367.1	2q34	2013-02-14			ENSG00000168582	ENSG00000168582			2408	protein-coding gene	gene with protein product	"""gamma crystallin 5"""	123660		CRYG1			Standard	NM_014617		Approved	CRYG5, CRY-g-A		P11844	OTTHUMG00000154796	ENST00000304502.4:c.475G>A	2.37:g.209025578C>T	ENSP00000302105:p.Gly159Ser						p.G159S	NM_014617	NP_055432	P11844	CRGA_HUMAN		Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)	3	492	-			159			Beta/gamma crystallin 'Greek key' 4.		Q53ST5	Missense_Mutation	SNP	ENST00000304502.4	37	c.475G>A	CCDS33367.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.302780	0.23736	.	.	ENSG00000168582	ENST00000304502	T	0.75704	-0.96	4.69	3.81	0.43845	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.564455	0.19071	N	0.123494	T	0.63988	0.2558	L	0.31664	0.95	0.25352	N	0.98886	B	0.18610	0.029	B	0.29077	0.098	T	0.56080	-0.8038	10	0.37606	T	0.19	.	10.8592	0.46817	0.0:0.9073:0.0:0.0927	.	159	P11844	CRGA_HUMAN	S	159	ENSP00000302105:G159S	ENSP00000302105:G159S	G	-	1	0	CRYGA	208733823	0.212000	0.23540	0.465000	0.27155	0.020000	0.10135	1.630000	0.37081	1.320000	0.45209	0.650000	0.86243	GGT		0.537	CRYGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337096.1	NM_014617		3	87	0	0	0	0	3	87				
MAPK1	5594	broad.mit.edu	37	22	22127164	22127164	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr22:22127164C>T	ENST00000215832.6	-	7	1152	c.964G>A	c.(964-966)Gag>Aag	p.E322K	MAPK1_ENST00000544786.1_Missense_Mutation_p.E278K|MAPK1_ENST00000398822.3_Missense_Mutation_p.E322K	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	322					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.E322K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	GCTCTTACCTCGTCACTCGGG	0.478																																						uc002zvn.2		NA																	1	Substitution - Missense(1)		cervix(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(964-966)GAG>AAG		mitogen-activated protein kinase 1	Arsenic trioxide(DB01169)						165.0	132.0	143.0					22																	22127164		2203	4300	6503	SO:0001583	missense	5594				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr22:22127164C>T	M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.964G>A	22.37:g.22127164C>T	ENSP00000215832:p.Glu322Lys					MAPK1_uc002zvo.2_Missense_Mutation_p.E322K|MAPK1_uc010gtk.1_Missense_Mutation_p.E278K	p.E322K	NM_002745	NP_002736	P28482	MK01_HUMAN		READ - Rectum adenocarcinoma(21;0.0689)	7	1204	-	Colorectal(54;0.105)	all_lung(157;3.89e-05)	322					A8CZ64	Missense_Mutation	SNP	ENST00000215832.6	37	c.964G>A	CCDS13795.1	.	.	.	.	.	.	.	.	.	.	C	35	5.567659	0.96540	.	.	ENSG00000100030	ENST00000215832;ENST00000415911;ENST00000398822;ENST00000544786	T;T;T	0.46063	0.88;0.88;0.88	4.9	4.9	0.64082	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.79275	0.4418	H	0.98388	4.22	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.83275	0.905;0.996	D	0.87609	0.2502	10	0.87932	D	0	-8.3311	18.6384	0.91386	0.0:1.0:0.0:0.0	.	278;322	A8CZ64;P28482	.;MK01_HUMAN	K	322;310;322;278	ENSP00000215832:E322K;ENSP00000381803:E322K;ENSP00000440842:E278K	ENSP00000215832:E322K	E	-	1	0	MAPK1	20457164	1.000000	0.71417	0.999000	0.59377	0.862000	0.49288	7.564000	0.82326	2.706000	0.92434	0.655000	0.94253	GAG		0.478	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075396.2			3	45	0	0	0	0	3	45				
SLC2A11	66035	broad.mit.edu	37	22	24204324	24204324	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr22:24204324G>A	ENST00000345044.6	+	2	323	c.55G>A	c.(55-57)Gct>Act	p.A19T	SLC2A11_ENST00000467660.1_3'UTR|SLC2A11_ENST00000316185.8_Missense_Mutation_p.A22T|SLC2A11_ENST00000403208.3_Missense_Mutation_p.A19T|SLC2A11_ENST00000405847.1_Missense_Mutation_p.A19T|SLC2A11_ENST00000398356.2_Missense_Mutation_p.A26T|AP000350.10_ENST00000433835.3_5'Flank			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	19					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						GACCATCTGCGCTGCCGGCAT	0.557																																						uc002zyn.3		NA																	0				ovary(1)	1						c.(55-57)GCT>ACT		glucose transporter protein 10 isoform c							216.0	203.0	207.0					22																	24204324		2203	4300	6503	SO:0001583	missense	66035					integral to membrane|plasma membrane	sugar transmembrane transporter activity	g.chr22:24204324G>A	AJ271290	CCDS13818.1, CCDS33616.1, CCDS46673.1, CCDS74828.1	22q11.23	2013-05-22			ENSG00000133460	ENSG00000133460		"""Solute carriers"""	14239	protein-coding gene	gene with protein product		610367					Standard	NM_001024938		Approved	GLUT11, GLUT10	uc002zyp.4	Q9BYW1	OTTHUMG00000166469	ENST00000345044.6:c.55G>A	22.37:g.24204324G>A	ENSP00000342542:p.Ala19Thr					SLC2A11_uc002zyl.1_Missense_Mutation_p.A26T|SLC2A11_uc002zym.3_Missense_Mutation_p.A26T|SLC2A11_uc002zyo.3_RNA|SLC2A11_uc011ajc.1_Missense_Mutation_p.A26T|SLC2A11_uc011ajd.1_Missense_Mutation_p.A13T|SLC2A11_uc002zyp.3_Missense_Mutation_p.A22T	p.A19T	NM_001024938	NP_001020109	Q9BYW1	GTR11_HUMAN			2	154	+			19			Helical; Name=1; (Potential).		E9PH55|Q542Y4|Q6ICJ5|Q8WXF9|Q8WYM4	Missense_Mutation	SNP	ENST00000345044.6	37	c.55G>A	CCDS46673.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.013561	0.54468	.	.	ENSG00000133460	ENST00000345044;ENST00000403208;ENST00000398356;ENST00000398363;ENST00000398359;ENST00000405847;ENST00000407566;ENST00000316185	T;T;T;T;T	0.60299	0.2;0.2;0.2;0.2;0.2	3.4	2.34	0.29019	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.222724	0.18753	U	0.132139	T	0.56108	0.1963	L	0.38175	1.15	0.38438	D	0.94662	D;D;D;D;D;D	0.65815	0.981;0.995;0.994;0.959;0.991;0.995	P;P;P;P;P;P	0.55713	0.657;0.781;0.674;0.782;0.781;0.781	T	0.54490	-0.8286	10	0.30854	T	0.27	.	10.1012	0.42507	0.0:0.0:0.7981:0.2019	.	22;26;22;19;26;26	B4E2T0;E7ENI4;Q9BYW1-3;Q9BYW1;E9PH55;Q6P4C1	.;.;.;GTR11_HUMAN;.;.	T	19;19;26;19;26;19;26;22	ENSP00000342542:A19T;ENSP00000385949:A19T;ENSP00000381399:A26T;ENSP00000384987:A19T;ENSP00000326748:A22T	ENSP00000255830:A19T	A	+	1	0	SLC2A11	22534324	0.994000	0.37717	0.992000	0.48379	0.883000	0.51084	1.952000	0.40343	0.990000	0.38787	0.603000	0.83216	GCT		0.557	SLC2A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319889.3	NM_030807		4	156	0	0	0	0	4	156				
APOBEC3B	9582	broad.mit.edu	37	22	39387498	39387498	+	Silent	SNP	G	G	A			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr22:39387498G>A	ENST00000333467.3	+	6	930	c.885G>A	c.(883-885)gcG>gcA	p.A295A	APOBEC3B-AS1_ENST00000513758.2_RNA|APOBEC3B_ENST00000402182.3_Silent_p.A295A|APOBEC3B_ENST00000407298.3_Silent_p.A270A	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	295					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|negative regulation of transposition (GO:0010529)	nucleus (GO:0005634)	deoxycytidine deaminase activity (GO:0047844)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					AAGTGCGTGCGTTCCTTCAGG	0.577																																						uc003awo.1		NA																	0		p.A295V(1)		ovary(1)	1						c.(883-885)GCG>GCA		apolipoprotein B mRNA editing enzyme, catalytic							113.0	112.0	112.0					22																	39387498		2198	4283	6481	SO:0001819	synonymous_variant	9582				negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding	g.chr22:39387498G>A	AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750		"""Apolipoprotein B mRNA editing enzymes"""	17352	protein-coding gene	gene with protein product	"""phorbolin 3"""	607110				11863358, 10469298	Standard	NM_004900		Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000333467.3:c.885G>A	22.37:g.39387498G>A						APOBEC3A_uc011aoc.1_Intron|APOBEC3B_uc003awp.1_Silent_p.A270A|APOBEC3B_uc003awq.1_RNA|APOBEC3D_uc011aod.1_Intron|APOBEC3D_uc011aoe.1_Intron|APOBEC3D_uc011aof.1_Intron	p.A295A	NM_004900	NP_004891	Q9UH17	ABC3B_HUMAN			6	939	+	Melanoma(58;0.04)		295					B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Silent	SNP	ENST00000333467.3	37	c.885G>A	CCDS13982.1																																																																																				0.577	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321233.1	NM_004900		5	105	0	0	0	0	5	105				
ENTHD1	150350	broad.mit.edu	37	22	40283601	40283601	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr22:40283601G>C	ENST00000325157.6	-	2	402	c.152C>G	c.(151-153)tCa>tGa	p.S51*		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	51	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.									breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					CATAATCTCTGAGAGAGAAAT	0.418																																						uc003ayg.2		NA																	0				ovary(2)|skin(1)	3						c.(151-153)TCA>TGA		ENTH domain containing 1							139.0	139.0	139.0					22																	40283601		2203	4300	6503	SO:0001587	stop_gained	150350							g.chr22:40283601G>C	AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.152C>G	22.37:g.40283601G>C	ENSP00000317431:p.Ser51*						p.S51*	NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN			2	403	-	Melanoma(58;0.0749)		51			ENTH.		B0QYD5|Q5H9F7|Q96LK3	Nonsense_Mutation	SNP	ENST00000325157.6	37	c.152C>G	CCDS13998.1	.	.	.	.	.	.	.	.	.	.	G	39	7.649742	0.98412	.	.	ENSG00000176177	ENST00000325157	.	.	.	5.42	5.42	0.78866	.	0.204155	0.34002	N	0.004346	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-7.5061	19.5833	0.95478	0.0:0.0:1.0:0.0	.	.	.	.	X	51	.	ENSP00000317431:S51X	S	-	2	0	ENTHD1	38613547	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.632000	0.54287	2.703000	0.92315	0.655000	0.94253	TCA		0.418	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	NM_152512		3	126	0	0	0	0	3	126				
CCR1	1230	broad.mit.edu	37	3	46244880	46244880	+	Missense_Mutation	SNP	G	G	A	rs554174316		TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr3:46244880G>A	ENST00000296140.3	-	2	1050	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	309					calcium ion transport (GO:0006816)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|exocytosis (GO:0006887)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of osteoclast differentiation (GO:0045672)|response to wounding (GO:0009611)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine (C-C motif) ligand 7 binding (GO:0035717)|chemokine receptor activity (GO:0004950)|phosphatidylinositol phospholipase C activity (GO:0004435)			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		AGGTACTTCCGGAACCTCTCA	0.587																																						uc003cph.1		NA																	0				skin(2)|pancreas(1)	3						c.(925-927)CGG>TGG		chemokine (C-C motif) receptor 1							93.0	80.0	84.0					3																	46244880		2203	4300	6503	SO:0001583	missense	1230				cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity	g.chr3:46244880G>A		CCDS2737.1	3p21	2012-08-08			ENSG00000163823	ENSG00000163823		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1602	protein-coding gene	gene with protein product		601159		SCYAR1, CMKBR1		7679328	Standard	NM_001295		Approved	CKR-1, MIP1aR, CD191	uc003cph.1	P32246	OTTHUMG00000133451	ENST00000296140.3:c.925C>T	3.37:g.46244880G>A	ENSP00000296140:p.Arg309Trp					CCR3_uc003cpg.1_Intron	p.R309W	NM_001295	NP_001286	P32246	CCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	2	996	-			309			Cytoplasmic (Potential).		Q86VA9	Missense_Mutation	SNP	ENST00000296140.3	37	c.925C>T	CCDS2737.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.422740	0.25639	.	.	ENSG00000163823	ENST00000296140	T	0.58358	0.34	5.41	4.52	0.55395	.	0.493976	0.19160	N	0.121220	T	0.55178	0.1904	M	0.83384	2.64	0.44492	D	0.997431	B	0.32283	0.362	B	0.30572	0.117	T	0.60182	-0.7313	10	0.66056	D	0.02	.	10.6616	0.45706	0.0719:0.0:0.7897:0.1384	.	309	P32246	CCR1_HUMAN	W	309	ENSP00000296140:R309W	ENSP00000296140:R309W	R	-	1	2	CCR1	46219884	1.000000	0.71417	0.976000	0.42696	0.067000	0.16453	2.515000	0.45512	1.388000	0.46506	0.561000	0.74099	CGG		0.587	CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257325.2	NM_001295		3	25	0	0	0	0	3	25				
C3orf38	285237	broad.mit.edu	37	3	88199220	88199220	+	Silent	SNP	C	C	G			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr3:88199220C>G	ENST00000318887.3	+	1	328	c.18C>G	c.(16-18)ctC>ctG	p.L6L	C3orf38_ENST00000486971.1_Silent_p.L6L|CGGBP1_ENST00000462901.1_5'Flank	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	6					apoptotic process (GO:0006915)					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TGTCGGGACTCAGCTTTTCAG	0.617																																						uc003dqw.2		NA																	0					0						c.(16-18)CTC>CTG		hypothetical protein LOC285237							79.0	61.0	67.0					3																	88199220		2203	4300	6503	SO:0001819	synonymous_variant	285237				apoptosis			g.chr3:88199220C>G	AL832398	CCDS2921.1, CCDS2921.2	3p11.1	2011-01-25			ENSG00000179021	ENSG00000179021			28384	protein-coding gene	gene with protein product						12477932	Standard	NM_173824		Approved	MGC26717	uc003dqw.3	Q5JPI3	OTTHUMG00000155752	ENST00000318887.3:c.18C>G	3.37:g.88199220C>G						CGGBP1_uc003dqu.2_5'Flank	p.L6L	NM_173824	NP_776185	Q5JPI3	CC038_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	2	329	+		Lung NSC(201;0.17)	6					B2R8X6|Q8TC85	Silent	SNP	ENST00000318887.3	37	c.18C>G	CCDS2921.2																																																																																				0.617	C3orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341513.1	NM_173824		3	24	0	0	0	0	3	24				
MAP1B	4131	broad.mit.edu	37	5	71492944	71492944	+	Silent	SNP	G	G	A			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr5:71492944G>A	ENST00000296755.7	+	5	4060	c.3762G>A	c.(3760-3762)tcG>tcA	p.S1254S		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1254					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TCAGCCCATCGAAGAGCCCGT	0.493																																					Melanoma(17;367 822 11631 31730 47712)	uc003kbw.3		NA																	0				large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(3760-3762)TCG>TCA		microtubule-associated protein 1B							89.0	87.0	87.0					5																	71492944		2203	4300	6503	SO:0001819	synonymous_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71492944G>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.3762G>A	5.37:g.71492944G>A						MAP1B_uc010iyw.1_Silent_p.S1271S|MAP1B_uc010iyx.1_Silent_p.S1128S|MAP1B_uc010iyy.1_Silent_p.S1128S	p.S1254S	NM_005909	NP_005900	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	4003	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1254					A2BDK5	Silent	SNP	ENST00000296755.7	37	c.3762G>A	CCDS4012.1																																																																																				0.493	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		5	44	0	0	0	0	5	44				
AFF4	27125	broad.mit.edu	37	5	132232314	132232314	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr5:132232314C>T	ENST00000265343.5	-	11	2387	c.2008G>A	c.(2008-2010)Gag>Aag	p.E670K	AFF4_ENST00000378595.3_Missense_Mutation_p.E670K	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	670					spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E670K(1)	SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTATTGCTCTCGGGGTACTTA	0.443																																					Ovarian(126;889 1733 2942 10745 11605)	uc003kyd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(2)|skin(1)	5						c.(2008-2010)GAG>AAG		ALL1 fused gene from 5q31							80.0	82.0	81.0					5																	132232314		2203	4300	6503	SO:0001583	missense	27125				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr5:132232314C>T	AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.2008G>A	5.37:g.132232314C>T	ENSP00000265343:p.Glu670Lys					AFF4_uc011cxk.1_Missense_Mutation_p.E348K|AFF4_uc003kye.1_Missense_Mutation_p.E670K	p.E670K	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		11	2416	-		all_cancers(142;0.145)|Breast(839;0.198)	670					B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	ENST00000265343.5	37	c.2008G>A	CCDS4164.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072366	0.76415	.	.	ENSG00000072364	ENST00000265343;ENST00000378595	T;T	0.64260	-0.09;-0.09	5.24	5.24	0.73138	.	0.111372	0.64402	D	0.000008	T	0.53433	0.1796	L	0.46157	1.445	0.58432	D	0.999998	P;P	0.52577	0.954;0.851	B;B	0.38156	0.266;0.131	T	0.53788	-0.8389	10	0.14252	T	0.57	-1.8835	19.1844	0.93637	0.0:1.0:0.0:0.0	.	670;670	Q9UHB7-2;Q9UHB7	.;AFF4_HUMAN	K	670	ENSP00000265343:E670K;ENSP00000367858:E670K	ENSP00000265343:E670K	E	-	1	0	AFF4	132260213	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.204000	0.77872	2.580000	0.87095	0.563000	0.77884	GAG		0.443	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423		4	55	0	0	0	0	4	55				
PCDHGA3	56112	broad.mit.edu	37	5	140723793	140723793	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr5:140723793C>T	ENST00000253812.6	+	1	193	c.193C>T	c.(193-195)Cgc>Tgc	p.R65C	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	65	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R65C(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGGAGTCCGCATCGTCTC	0.617											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ljm.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(193-195)CGC>TGC		protocadherin gamma subfamily A, 3 isoform 1							77.0	91.0	86.0					5																	140723793		2178	4288	6466	SO:0001583	missense	56112				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140723793C>T	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.193C>T	5.37:g.140723793C>T	ENSP00000253812:p.Arg65Cys		OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1658	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Missense_Mutation_p.R65C	p.R65C	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	193	+			65			Cadherin 1.|Extracellular (Potential).		Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.193C>T	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	18.21	3.573221	0.65765	.	.	ENSG00000254245	ENST00000253812	T	0.38887	1.11	5.65	5.65	0.86999	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.34025	U	0.004321	D	0.82586	0.5069	H	0.99800	4.79	0.51233	D	0.999914	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	D	0.90474	0.4455	10	0.87932	D	0	.	19.7068	0.96076	0.0:1.0:0.0:0.0	.	65;65	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	C	65	ENSP00000253812:R65C	ENSP00000253812:R65C	R	+	1	0	PCDHGA3	140703977	0.998000	0.40836	1.000000	0.80357	0.473000	0.32948	3.834000	0.55798	2.824000	0.97209	0.655000	0.94253	CGC		0.617	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		14	136	0	0	0	0	14	136				
ASF1A	25842	broad.mit.edu	37	6	119226832	119226832	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr6:119226832C>G	ENST00000229595.5	+	3	435	c.241C>G	c.(241-243)Cca>Gca	p.P81A	MCM9_ENST00000316316.6_Intron	NM_014034.2	NP_054753.1	Q9Y294	ASF1A_HUMAN	anti-silencing function 1A histone chaperone	81	Interaction with histone H3, CHAF1B, and HIRA.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|muscle cell differentiation (GO:0042692)|negative regulation of chromatin silencing (GO:0031936)|nucleosome assembly (GO:0006334)|osteoblast differentiation (GO:0001649)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)			endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188)		TGCACCTAATCCAGGACTCAT	0.393																																						uc011ebn.1		NA																	0					0						c.(241-243)CCA>GCA		ASF1 anti-silencing function 1 homolog A							187.0	188.0	188.0					6																	119226832		1903	4130	6033	SO:0001583	missense	25842				chromatin modification|DNA repair|loss of chromatin silencing|nucleosome assembly|transcription, DNA-dependent	chromatin remodeling complex	chromatin binding|histone binding	g.chr6:119226832C>G	AF279306	CCDS47469.1	6q22.31	2013-05-01	2013-05-01		ENSG00000111875	ENSG00000111875			20995	protein-coding gene	gene with protein product		609189	"""ASF1 anti-silencing function 1 homolog A (S. cerevisiae)"""			10810093, 11042152	Standard	NM_014034		Approved	DKFZP547E2110, CIA	uc011ebn.2	Q9Y294	OTTHUMG00000015470	ENST00000229595.5:c.241C>G	6.37:g.119226832C>G	ENSP00000229595:p.Pro81Ala						p.P81A	NM_014034	NP_054753	Q9Y294	ASF1A_HUMAN		GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188)	3	578	+		all_cancers(87;0.122)|all_epithelial(87;0.179)	81			Interaction with histone H3, CHAF1B, and HIRA.		Q6IA08|Q9P014	Missense_Mutation	SNP	ENST00000229595.5	37	c.241C>G	CCDS47469.1	.	.	.	.	.	.	.	.	.	.	C	10.63	1.405478	0.25378	.	.	ENSG00000111875	ENST00000229595	.	.	.	6.17	4.38	0.52667	.	0.139654	0.51477	N	0.000089	T	0.28995	0.0720	L	0.55990	1.75	0.41238	D	0.986629	B	0.02656	0.0	B	0.04013	0.001	T	0.12889	-1.0530	9	0.16896	T	0.51	-7.8496	8.3262	0.32158	0.0:0.7321:0.1332:0.1348	.	81	Q9Y294	ASF1A_HUMAN	A	81	.	ENSP00000229595:P81A	P	+	1	0	ASF1A	119268531	1.000000	0.71417	0.977000	0.42913	0.990000	0.78478	4.216000	0.58540	0.911000	0.36747	0.655000	0.94253	CCA		0.393	ASF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361910.1	NM_014034		3	116	0	0	0	0	3	116				
PCLO	27445	broad.mit.edu	37	7	82581315	82581315	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr7:82581315C>G	ENST00000333891.9	-	5	9291	c.8954G>C	c.(8953-8955)aGa>aCa	p.R2985T	PCLO_ENST00000423517.2_Missense_Mutation_p.R2985T|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCCAATCCCTCTATAACCATA	0.423																																						uc003uhx.2		NA																	0				ovary(7)	7						c.(8953-8955)AGA>ACA		piccolo isoform 1							197.0	187.0	190.0					7																	82581315		1886	4129	6015	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82581315C>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.8954G>C	7.37:g.82581315C>G	ENSP00000334319:p.Arg2985Thr					PCLO_uc003uhv.2_Missense_Mutation_p.R2985T|PCLO_uc010lec.2_5'Flank	p.R2985T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	9243	-			2916						Missense_Mutation	SNP	ENST00000333891.9	37	c.8954G>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	9.074	0.997653	0.19043	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16457	2.34;2.34	5.59	5.59	0.84812	.	.	.	.	.	T	0.37019	0.0988	L	0.59436	1.845	0.80722	D	1	D;D	0.60575	0.988;0.988	P;P	0.58721	0.844;0.844	T	0.05178	-1.0901	9	0.87932	D	0	.	19.5816	0.95469	0.0:1.0:0.0:0.0	.	2985;2985	Q9Y6V0-5;Q9Y6V0-6	.;.	T	2916;2985;2985	ENSP00000334319:R2985T;ENSP00000388393:R2985T	ENSP00000334319:R2985T	R	-	2	0	PCLO	82419251	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.946000	0.49050	2.618000	0.88619	0.557000	0.71058	AGA		0.423	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		7	173	0	0	0	0	7	173				
TAS2R5	54429	broad.mit.edu	37	7	141490605	141490605	+	Silent	SNP	C	C	T			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr7:141490605C>T	ENST00000247883.4	+	1	589	c.444C>T	c.(442-444)ttC>ttT	p.F148F		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	148					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					GCTTAACATTCTATCATCCTC	0.433																																						uc003vwr.1		NA																	0					0						c.(442-444)TTC>TTT		taste receptor T2R5							93.0	80.0	84.0					7																	141490605		2203	4300	6503	SO:0001819	synonymous_variant	54429				chemosensory behavior|sensory perception of taste		taste receptor activity	g.chr7:141490605C>T	AF227132	CCDS5869.1	7q31.3-q32	2012-08-22			ENSG00000127366	ENSG00000127366		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14912	protein-coding gene	gene with protein product		605062					Standard	NM_018980		Approved	T2R5	uc003vwr.1	Q9NYW4	OTTHUMG00000157632	ENST00000247883.4:c.444C>T	7.37:g.141490605C>T							p.F148F	NM_018980	NP_061853	Q9NYW4	TA2R5_HUMAN			1	589	+	Melanoma(164;0.0171)		148			Helical; Name=4; (Potential).		Q645W0|Q75MV7	Silent	SNP	ENST00000247883.4	37	c.444C>T	CCDS5869.1																																																																																				0.433	TAS2R5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349283.1			4	24	0	0	0	0	4	24				
CPA6	57094	broad.mit.edu	37	8	68423859	68423859	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr8:68423859C>G	ENST00000297770.4	-	4	564	c.349G>C	c.(349-351)Gag>Cag	p.E117Q	CPA6_ENST00000297769.4_5'UTR|CPA6_ENST00000518549.1_Missense_Mutation_p.E117Q	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	117						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			CTTCCCTTCTCCAGTGTTTTC	0.388																																						uc003xxq.3		NA																	0				ovary(2)	2						c.(349-351)GAG>CAG		carboxypeptidase A6 isoform 1 precursor							183.0	187.0	186.0					8																	68423859		2203	4300	6503	SO:0001583	missense	57094				proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr8:68423859C>G	AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.349G>C	8.37:g.68423859C>G	ENSP00000297770:p.Glu117Gln					CPA6_uc003xxr.3_5'UTR|CPA6_uc003xxs.2_Missense_Mutation_p.E117Q	p.E117Q	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)		4	605	-			117					Q8NEX8|Q8TDE8|Q9NRI9	Missense_Mutation	SNP	ENST00000297770.4	37	c.349G>C	CCDS6200.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.112762	0.56398	.	.	ENSG00000165078	ENST00000297770;ENST00000518549	T;T	0.15603	2.41;2.41	5.46	5.46	0.80206	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (2);	0.048169	0.85682	D	0.000000	T	0.38268	0.1034	L	0.49350	1.555	0.80722	D	1	D;P	0.89917	1.0;0.804	D;P	0.91635	0.999;0.718	T	0.01884	-1.1254	10	0.39692	T	0.17	.	18.8952	0.92420	0.0:1.0:0.0:0.0	.	117;117	Q8N4T0-2;Q8N4T0	.;CBPA6_HUMAN	Q	117	ENSP00000297770:E117Q;ENSP00000431112:E117Q	ENSP00000297770:E117Q	E	-	1	0	CPA6	68586413	1.000000	0.71417	0.992000	0.48379	0.121000	0.20230	6.218000	0.72224	2.565000	0.86533	0.650000	0.86243	GAG		0.388	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379296.2	NM_020361		6	198	0	0	0	0	6	198				
FAM189A2	9413	broad.mit.edu	37	9	71992331	71992331	+	Missense_Mutation	SNP	G	G	A	rs534759715		TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr9:71992331G>A	ENST00000257515.8	+	5	718	c.298G>A	c.(298-300)Gtc>Atc	p.V100I	FAM189A2_ENST00000303068.7_5'UTR|FAM189A2_ENST00000455972.1_Missense_Mutation_p.V100I	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2	100						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GACCACCACCGTCTGCTTGGT	0.532																																						uc010mon.1		NA																	0					0						c.(298-300)GTC>ATC		chromosome 9 open reading frame 61 precursor							165.0	137.0	146.0					9																	71992331		2203	4300	6503	SO:0001583	missense	9413					integral to membrane		g.chr9:71992331G>A	L27479	CCDS6629.1	9q21.11	2009-07-09	2009-07-09	2009-07-09	ENSG00000135063	ENSG00000135063			24820	protein-coding gene	gene with protein product		607710	"""chromosome 9 open reading frame 61"""	C9orf61		7951235	Standard	NM_004816		Approved	X123	uc010mon.1	Q15884	OTTHUMG00000019979	ENST00000257515.8:c.298G>A	9.37:g.71992331G>A	ENSP00000257515:p.Val100Ile					FAM189A2_uc004ahg.2_Missense_Mutation_p.V100I|FAM189A2_uc010moo.1_5'UTR	p.V100I	NM_001127608	NP_001121080	Q15884	F1892_HUMAN			5	402	+			100			Helical; (Potential).		Q14CN5|Q5T6C8|Q5T6C9|Q6ZTX4|Q96N10	Missense_Mutation	SNP	ENST00000257515.8	37	c.298G>A	CCDS6629.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.706099	0.89018	.	.	ENSG00000135063	ENST00000455972;ENST00000257515;ENST00000377225	T;T	0.02236	4.38;4.38	5.41	5.41	0.78517	.	0.144296	0.44483	D	0.000441	T	0.09598	0.0236	L	0.42686	1.345	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.04607	-1.0939	10	0.59425	D	0.04	-32.2691	18.7934	0.91983	0.0:0.0:1.0:0.0	.	100	Q15884	F1892_HUMAN	I	100;100;99	ENSP00000395675:V100I;ENSP00000257515:V100I	ENSP00000257515:V100I	V	+	1	0	FAM189A2	71182151	1.000000	0.71417	0.997000	0.53966	0.960000	0.62799	8.348000	0.90064	2.538000	0.85594	0.561000	0.74099	GTC		0.532	FAM189A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052576.2	NM_004816		7	55	0	0	0	0	7	55				
TRPM6	140803	broad.mit.edu	37	9	77354692	77354692	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr9:77354692G>A	ENST00000360774.1	-	34	5671	c.5434C>T	c.(5434-5436)Cgg>Tgg	p.R1812W	TRPM6_ENST00000376872.3_Missense_Mutation_p.R767W|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1807W|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1807W|TRPM6_ENST00000451710.3_Missense_Mutation_p.R1816W|TRPM6_ENST00000376871.3_Missense_Mutation_p.R649W|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1816W	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1812	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TGCCATGTCCGCACAACCTCA	0.488																																						uc004ajl.1		NA																	0				lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.(5434-5436)CGG>TGG		transient receptor potential cation channel,							147.0	146.0	146.0					9																	77354692		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77354692G>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.5434C>T	9.37:g.77354692G>A	ENSP00000354006:p.Arg1812Trp					TRPM6_uc004ajk.1_Missense_Mutation_p.R1807W|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.R763W|TRPM6_uc010mpd.1_Missense_Mutation_p.R645W|TRPM6_uc010mpe.1_Missense_Mutation_p.R359W|TRPM6_uc004ajj.1_Missense_Mutation_p.R768W	p.R1812W	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			34	5672	-			1812			Alpha-type protein kinase.|Cytoplasmic (Potential).		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.5434C>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.782492	0.49891	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864	T;T;T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2;3.2;3.2	5.96	4.12	0.48240	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.422510	0.29410	N	0.012235	T	0.17831	0.0428	L	0.27053	0.805	0.27804	N	0.942373	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.996;0.995;0.995	D;D;D;P;B;B	0.74023	0.982;0.982;0.982;0.545;0.409;0.409	T	0.04191	-1.0970	10	0.72032	D	0.01	.	15.6115	0.76721	0.0:0.0:0.7486:0.2514	.	359;645;763;1812;1807;1807	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3;Q9BX84-2	.;.;.;TRPM6_HUMAN;.;.	W	1812;1816;767;649;1807;1807;358;1816	ENSP00000354006:R1812W;ENSP00000407341:R1816W;ENSP00000366068:R767W;ENSP00000366067:R649W;ENSP00000396672:R1807W;ENSP00000354962:R1807W;ENSP00000366060:R1816W	ENSP00000354006:R1812W	R	-	1	2	TRPM6	76544512	0.749000	0.28305	0.927000	0.36925	0.165000	0.22458	2.006000	0.40874	0.845000	0.35118	-0.953000	0.02652	CGG		0.488	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		5	183	0	0	0	0	5	183				
PPP1R26	9858	broad.mit.edu	37	9	138379027	138379027	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr9:138379027C>T	ENST00000356818.2	+	4	3220	c.2671C>T	c.(2671-2673)Cgc>Tgc	p.R891C	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Missense_Mutation_p.R891C|PPP1R26_ENST00000605286.1_Missense_Mutation_p.R891C|PPP1R26_ENST00000604351.1_Missense_Mutation_p.R891C|PPP1R26_ENST00000401470.3_Missense_Mutation_p.R891C	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	891					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										CGTGTGCACACGCAGCCAGAG	0.697																																						uc004cfr.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2671-2673)CGC>TGC		1A6/DRIM (down-regulated in metastasis)							26.0	34.0	31.0					9																	138379027		2126	4202	6328	SO:0001583	missense	9858					nucleolus	protein binding	g.chr9:138379027C>T	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.2671C>T	9.37:g.138379027C>T	ENSP00000349274:p.Arg891Cys						p.R891C	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)	4	3220	+			891					Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	ENST00000356818.2	37	c.2671C>T	CCDS6988.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.682355	0.29872	.	.	ENSG00000196422	ENST00000356818	T	0.12039	2.72	4.62	2.66	0.31614	.	1.313390	0.05238	N	0.511566	T	0.32882	0.0844	L	0.58101	1.795	0.09310	N	1	D	0.89917	1.0	D	0.67231	0.95	T	0.09143	-1.0688	10	0.72032	D	0.01	-27.4104	8.2882	0.31941	0.1782:0.6499:0.1719:0.0	.	891	Q5T8A7	PPR26_HUMAN	C	891	ENSP00000349274:R891C	ENSP00000349274:R891C	R	+	1	0	KIAA0649	137518848	0.178000	0.23122	0.213000	0.23690	0.027000	0.11550	0.249000	0.18216	0.335000	0.23614	0.462000	0.41574	CGC		0.697	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		15	57	0	0	0	0	15	57				
NOTCH1	4851	broad.mit.edu	37	9	139413085	139413085	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr9:139413085G>A	ENST00000277541.6	-	6	1132	c.1057C>T	c.(1057-1059)Cgt>Tgt	p.R353C	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	353	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R353C(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GAGGCCACACGGTCATGGCAG	0.652			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		2	Substitution - Missense(2)	p.R353H(1)	lung(2)	haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(1057-1059)CGT>TGT		notch1 preproprotein							27.0	33.0	31.0					9																	139413085		2197	4292	6489	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139413085G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1057C>T	9.37:g.139413085G>A	ENSP00000277541:p.Arg353Cys	HNSCC(8;0.001)					p.R353C	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	6	1057	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	353			Extracellular (Potential).|EGF-like 9; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1057C>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	33	5.227690	0.95173	.	.	ENSG00000148400	ENST00000277541	D	0.87491	-2.26	5.12	5.12	0.69794	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.93716	0.7992	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93786	0.7088	10	0.48119	T	0.1	.	17.1039	0.86657	0.0:0.0:1.0:0.0	.	353	P46531	NOTC1_HUMAN	C	353	ENSP00000277541:R353C	ENSP00000277541:R353C	R	-	1	0	NOTCH1	138532906	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	6.334000	0.72944	2.374000	0.81015	0.561000	0.74099	CGT		0.652	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		3	16	0	0	0	0	3	16				
HERC2	8924	broad.mit.edu	37	15	28518115	28518115	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr15:28518115delC	ENST00000261609.7	-	8	944	c.836delG	c.(835-837)ggafs	p.G279fs		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.G279V(1)|p.G279fs*25(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGGGATGCTTCCTGGCCCTTT	0.592																																						uc001zbj.2		NA																	2	Substitution - Missense(1)|Deletion - Frameshift(1)		autonomic_ganglia(1)|breast(1)	ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(835-837)GGAfs		hect domain and RLD 2							50.0	48.0	49.0					15																	28518115		2203	4300	6503	SO:0001589	frameshift_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28518115delC	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.836delG	15.37:g.28518115delC	ENSP00000261609:p.Gly279fs					HERC2_uc001zbl.1_5'UTR	p.G279fs	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	8	942	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	279						Frame_Shift_Del	DEL	ENST00000261609.7	37	c.836delG	CCDS10021.1																																																																																				0.592	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		7	62	NA	NA	NA	NA	7	62	---	---	---	---
