#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ZFPM2	23414	broad.mit.edu	37	8	106811063	106811063	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr8:106811063C>T	ENST00000407775.2	+	7	1101	c.851C>T	c.(850-852)tCa>tTa	p.S284L	RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S152L|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S152L|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S15L|RP11-152P17.2_ENST00000520433.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	284					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S284L(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GCTCCGGTGTCAGAGGAAAAT	0.527																																						ENST00000407775.2																			1	Substitution - Missense(1)	p.S284L(1)	prostate(1)	NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(850-852)tCa>tTa		zinc finger protein, FOG family member 2							115.0	119.0	118.0					8																	106811063		2095	4238	6333	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106811063C>T	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.851C>T	8.37:g.106811063C>T	ENSP00000384179:p.Ser284Leu					ZFPM2_ENST00000517361.1_Missense_Mutation_p.S152L|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S15L|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S152L|ZFPM2_ENST00000522296.1_3'UTR	p.S284L	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		7	1101	+			284					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.851C>T	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.569917	0.65765	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.21543	2.0;2.51;2.51;3.79	6.06	6.06	0.98353	.	0.381500	0.28724	N	0.014350	T	0.25419	0.0618	L	0.47716	1.5	0.38393	D	0.945453	B	0.20887	0.049	B	0.19666	0.026	T	0.02852	-1.1102	10	0.44086	T	0.13	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	284	Q8WW38	FOG2_HUMAN	L	284;152;152;15	ENSP00000384179:S284L;ENSP00000430757:S152L;ENSP00000428720:S152L;ENSP00000367733:S15L	ENSP00000367733:S15L	S	+	2	0	ZFPM2	106880239	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.507000	0.60434	2.880000	0.98712	0.650000	0.86243	TCA		0.527	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			47	133	0	0	0	1	0	47	133				
CSF1R	1436	broad.mit.edu	37	5	149460527	149460527	+	Missense_Mutation	SNP	G	G	A	rs139635308	byFrequency	TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr5:149460527G>A	ENST00000286301.3	-	3	401	c.110C>T	c.(109-111)aCg>aTg	p.T37M	CSF1R_ENST00000543093.1_Missense_Mutation_p.T37M	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	37	Ig-like C2-type 1.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)	p.T37M(3)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CAAGGTCACCGTTGCTCCTGG	0.597													G|||	2	0.000399361	0.0	0.0	5008	,	,		21098	0.0		0.0	False		,,,				2504	0.002					ENST00000286301.3																			3	Substitution - Missense(3)	p.T37M(3)	prostate(3)	NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93						c.(109-111)aCg>aTg		colony stimulating factor 1 receptor	Imatinib(DB00619)|Sunitinib(DB01268)	G	MET/THR	2,4404	4.2+/-10.8	0,2,2201	110.0	77.0	88.0		110	-3.5	0.0	5	dbSNP_134	88	0,8600		0,0,4300	no	missense	CSF1R	NM_005211.3	81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	37/973	149460527	2,13004	2203	4300	6503	SO:0001583	missense	1436				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	g.chr5:149460527G>A	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.110C>T	5.37:g.149460527G>A	ENSP00000286301:p.Thr37Met					CSF1R_ENST00000543093.1_Missense_Mutation_p.T37M	p.T37M	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		3	401	-			37			Ig-like C2-type 1.		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	ENST00000286301.3	37	c.110C>T	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	G	4.812	0.151006	0.09185	4.54E-4	0.0	ENSG00000182578	ENST00000286301;ENST00000543093	T;T	0.32272	1.46;1.46	5.76	-3.47	0.04753	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.076950	0.07181	N	0.853960	T	0.23054	0.0557	M	0.70595	2.14	0.09310	N	1	P;B;B	0.35107	0.484;0.081;0.184	B;B;B	0.26202	0.017;0.028;0.067	T	0.13926	-1.0491	10	0.46703	T	0.11	.	0.7538	0.00995	0.2617:0.1082:0.2982:0.3318	.	37;37;37	B4DG86;B5A955;P07333	.;.;CSF1R_HUMAN	M	37	ENSP00000286301:T37M;ENSP00000445282:T37M	ENSP00000286301:T37M	T	-	2	0	CSF1R	149440720	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.302000	0.08221	-1.179000	0.02737	-0.726000	0.03593	ACG		0.597	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		14	43	0	0	0	1	0	14	43				
CSMD2	114784	broad.mit.edu	37	1	34015923	34015923	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr1:34015923G>A	ENST00000373381.4	-	56	8947	c.8771C>T	c.(8770-8772)cCg>cTg	p.P2924L		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2899	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P2780L(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGAGTGAGGCGGGGAGCCCGG	0.572																																						ENST00000373381.4																			1	Substitution - Missense(1)	p.P2780L(1)	prostate(1)	NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(8770-8772)cCg>cTg		CUB and Sushi multiple domains 2							55.0	54.0	55.0					1																	34015923		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34015923G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.8771C>T	1.37:g.34015923G>A	ENSP00000362479:p.Pro2924Leu						p.P2924L	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			56	8947	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2899			Sushi 21.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.8771C>T		.	.	.	.	.	.	.	.	.	.	G	24.9	4.582217	0.86748	.	.	ENSG00000121904	ENST00000373381	T	0.61859	0.07	5.71	5.71	0.89125	Complement control module (2);Sushi/SCR/CCP (3);	0.059225	0.64402	D	0.000002	T	0.76033	0.3931	M	0.79614	2.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70502	-0.4854	10	0.17832	T	0.49	.	18.9209	0.92525	0.0:0.0:1.0:0.0	.	2780;2924	Q7Z408;E7EUA6	CSMD2_HUMAN;.	L	2924	ENSP00000362479:P2924L	ENSP00000241312:P2780L	P	-	2	0	CSMD2	33788510	1.000000	0.71417	0.989000	0.46669	0.401000	0.30781	9.833000	0.99426	2.720000	0.93068	0.650000	0.86243	CCG		0.572	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		23	92	0	0	0	1	0	23	92				
PCDHB10	56126	broad.mit.edu	37	5	140573541	140573541	+	Silent	SNP	C	C	T	rs17844565	byFrequency	TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr5:140573541C>T	ENST00000239446.4	+	1	1600	c.1416C>T	c.(1414-1416)agC>agT	p.S472S		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	472	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S472S(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACATCGGCAGCGTCAGCGCCA	0.662													C|||	20	0.00399361	0.0144	0.0014	5008	,	,		16966	0.0		0.0	False		,,,				2504	0.0					ENST00000239446.4																			1	Substitution - coding silent(1)	p.S472S(1)	prostate(1)	breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(1414-1416)agC>agT				C		43,4361		0,43,2159	42.0	51.0	48.0		1416	1.4	0.9	5	dbSNP_123	48	2,8586		0,2,4292	no	coding-synonymous	PCDHB10	NM_018930.3		0,45,6451	TT,TC,CC		0.0233,0.9764,0.3464		472/801	140573541	45,12947	2202	4294	6496	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140573541C>T	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1416C>T	5.37:g.140573541C>T							p.S472S	NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1600	+			472			Cadherin 5.		Q96T99	Silent	SNP	ENST00000239446.4	37	c.1416C>T	CCDS4252.1																																																																																				0.662	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		6	111	0	0	0	1	0	6	111				
DGCR14	8220	broad.mit.edu	37	22	19121828	19121828	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr22:19121828G>A	ENST00000252137.6	-	10	1355	c.1312C>T	c.(1312-1314)Ccc>Tcc	p.P438S		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	438					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)		p.P438S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GTGCTTGTGGGGGTCTGCAGC	0.692																																						ENST00000252137.6																			1	Substitution - Missense(1)	p.P438S(1)	prostate(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16						c.(1312-1314)Ccc>Tcc		DiGeorge syndrome critical region gene 14							66.0	60.0	62.0					22																	19121828		2203	4299	6502	SO:0001583	missense	8220				nervous system development	catalytic step 2 spliceosome		g.chr22:19121828G>A	L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"""DiGeorge syndrome critical region gene 13"""	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.1312C>T	22.37:g.19121828G>A	ENSP00000252137:p.Pro438Ser						p.P438S	NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN			10	1355	-	Colorectal(54;0.0993)		438					Q49AH7|Q9BTZ4	Missense_Mutation	SNP	ENST00000252137.6	37	c.1312C>T	CCDS13756.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.566493	0.86439	.	.	ENSG00000100056	ENST00000252137	T	0.27557	1.66	4.57	4.57	0.56435	.	0.056535	0.64402	D	0.000001	T	0.45175	0.1329	L	0.41236	1.265	0.80722	D	1	D	0.89917	1.0	D	0.66716	0.946	T	0.23154	-1.0196	10	0.33141	T	0.24	-20.9474	17.1501	0.86775	0.0:0.0:1.0:0.0	.	438	Q96DF8	DGC14_HUMAN	S	438	ENSP00000252137:P438S	ENSP00000252137:P438S	P	-	1	0	DGCR14	17501828	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	9.257000	0.95545	2.374000	0.81015	0.591000	0.81541	CCC		0.692	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316432.2			16	35	0	0	0	1	0	16	35				
TNS1	7145	broad.mit.edu	37	2	218679689	218679689	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr2:218679689A>C	ENST00000171887.4	-	25	4815	c.4363T>G	c.(4363-4365)Ttt>Gtt	p.F1455V	TNS1_ENST00000430930.1_Missense_Mutation_p.F1434V|TNS1_ENST00000419504.1_Missense_Mutation_p.F1442V	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1455					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)	p.F1455V(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TCCTGGACAAACTTCACTTTA	0.498																																						ENST00000171887.4																			1	Substitution - Missense(1)	p.F1455V(1)	prostate(1)	breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(4363-4365)Ttt>Gtt		tensin 1							80.0	70.0	73.0					2																	218679689		2203	4300	6503	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218679689A>C	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.4363T>G	2.37:g.218679689A>C	ENSP00000171887:p.Phe1455Val					TNS1_ENST00000430930.1_Missense_Mutation_p.F1434V|TNS1_ENST00000419504.1_Missense_Mutation_p.F1442V	p.F1455V	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	25	4815	-		Renal(207;0.0483)|Lung NSC(271;0.213)	1455					Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.4363T>G	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	A	29.8	5.034487	0.93575	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.79370	0.4434	M	0.76838	2.35	0.80722	D	1	D;D;D	0.76494	0.999;0.994;0.998	D;D;D	0.80764	0.994;0.977;0.989	T	0.82311	-0.0520	10	0.87932	D	0	.	15.5286	0.75932	1.0:0.0:0.0:0.0	.	1455;1434;1442	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	V	1455;593;1442;1434	ENSP00000171887:F1455V;ENSP00000394171:F593V;ENSP00000408724:F1442V;ENSP00000406016:F1434V	ENSP00000171887:F1455V	F	-	1	0	TNS1	218387934	1.000000	0.71417	0.989000	0.46669	0.992000	0.81027	9.051000	0.93849	2.257000	0.74773	0.460000	0.39030	TTT		0.498	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		16	34	0	0	0	1	0	16	34				
AKAP7	9465	broad.mit.edu	37	6	131490307	131490307	+	Silent	SNP	A	A	G			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr6:131490307A>G	ENST00000431975.2	+	5	581	c.483A>G	c.(481-483)ggA>ggG	p.G161G	AKAP7_ENST00000366358.2_Intron|AKAP7_ENST00000368123.4_Silent_p.G139G|AKAP7_ENST00000541650.1_Silent_p.G160G	NM_016377.3	NP_057461.2	Q9P0M2	AKA7G_HUMAN	A kinase (PRKA) anchor protein 7	161						cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|nucleotide binding (GO:0000166)|protein kinase A binding (GO:0051018)	p.G139G(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		TCCTCCAGGGAAAACATTTGA	0.353																																						ENST00000431975.2																			1	Substitution - coding silent(1)	p.G139G(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13						c.(481-483)ggA>ggG		A kinase (PRKA) anchor protein 7							115.0	119.0	118.0					6																	131490307		2203	4300	6503	SO:0001819	synonymous_variant	9465				intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding	g.chr6:131490307A>G	AF047715	CCDS5142.1, CCDS5143.1, CCDS5144.1, CCDS5142.2	6q23.2	2012-10-24			ENSG00000118507	ENSG00000118507		"""A-kinase anchor proteins"""	377	protein-coding gene	gene with protein product		604693				9545239	Standard	NM_016377		Approved	AKAP18, AKAP15	uc003qck.4	O43687	OTTHUMG00000015563	ENST00000431975.2:c.483A>G	6.37:g.131490307A>G						AKAP7_ENST00000368123.4_Silent_p.G139G|AKAP7_ENST00000541650.1_Silent_p.G160G|AKAP7_ENST00000366358.2_Intron	p.G161G	NM_016377.3	NP_057461.2	O43687	AKA7A_HUMAN		GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)	5	581	+	Breast(56;0.152)		0					B4DUC3|Q9HCZ8	Silent	SNP	ENST00000431975.2	37	c.483A>G	CCDS5142.2																																																																																				0.353	AKAP7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042209.2	NM_004842		61	211	0	0	0	1	0	61	211				
FBXO5	26271	broad.mit.edu	37	6	153292428	153292428	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr6:153292428T>C	ENST00000229758.3	-	5	1272	c.1214A>G	c.(1213-1215)tAt>tGt	p.Y405C	FBXO5_ENST00000477822.1_5'UTR|FBXO5_ENST00000367241.3_Missense_Mutation_p.Y359C	NM_012177.3	NP_036309.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	405					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibition of mitotic anaphase-promoting complex activity (GO:0060565)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|negative regulation of meiosis (GO:0045835)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|oocyte maturation (GO:0001556)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly involved in female meiosis I (GO:0007057)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.Y405C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		CTTCGTACAATAATCAAATCC	0.418																																					NSCLC(121;372 1757 17721 17977 29669)	ENST00000367241.3																			1	Substitution - Missense(1)	p.Y405C(1)	prostate(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(1075-1077)tAt>tGt		F-box protein 5							114.0	106.0	109.0					6																	153292428		2203	4300	6503	SO:0001583	missense	26271				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm|spindle	metal ion binding|protein binding	g.chr6:153292428T>C	AF129535	CCDS5242.1, CCDS47501.1	6q25-q26	2008-02-05	2004-06-15		ENSG00000112029	ENSG00000112029		"""F-boxes /  ""other"""""	13584	protein-coding gene	gene with protein product		606013	"""F-box only protein 5"""			10531035, 10531037	Standard	NM_012177		Approved	FBX5, Fbxo31, EMI1	uc003qpg.3	Q9UKT4	OTTHUMG00000015854	ENST00000229758.3:c.1214A>G	6.37:g.153292428T>C	ENSP00000229758:p.Tyr405Cys					FBXO5_ENST00000477822.1_5'UTR|FBXO5_ENST00000229758.3_Missense_Mutation_p.Y405C	p.Y359C	NM_001142522.1	NP_001135994.1	Q9UKT4	FBX5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)	5	1456	-		Ovarian(120;0.125)	405					B3KNX5|Q5TF47|Q8WV29|Q9UGC8	Missense_Mutation	SNP	ENST00000229758.3	37	c.1076A>G	CCDS5242.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.958698	0.74016	.	.	ENSG00000112029	ENST00000229758;ENST00000367241	T;T	0.63913	-0.07;-0.07	5.51	4.3	0.51218	.	0.055801	0.64402	D	0.000001	T	0.59569	0.2203	L	0.60455	1.87	0.37462	D	0.915278	D	0.71674	0.998	P	0.57324	0.818	T	0.66988	-0.5784	10	0.87932	D	0	-20.9069	8.2867	0.31932	0.4082:0.0:0.0:0.5918	.	405	Q9UKT4	FBX5_HUMAN	C	405;359	ENSP00000229758:Y405C;ENSP00000356210:Y359C	ENSP00000229758:Y405C	Y	-	2	0	FBXO5	153334121	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.504000	0.60414	2.098000	0.63641	0.533000	0.62120	TAT		0.418	FBXO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042757.1			18	148	0	0	0	1	0	18	148				
TBC1D3P2	440452	broad.mit.edu	37	17	60342186	60342186	+	RNA	SNP	T	T	C			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr17:60342186T>C	ENST00000581291.1	-	0	1967									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						GCTGGGGGTGTTGGGAGGGGC	0.498																																						ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																														0							g.chr17:60342186T>C			17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60342186T>C														0	1967	-									RNA	SNP	ENST00000581291.1	37																																																																																						0.498	TBC1D3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445021.1	NR_027486		2	10	0	0	0	1	0	2	10				
BRWD3	254065	broad.mit.edu	37	X	79942411	79942411	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chrX:79942411C>A	ENST00000373275.4	-	35	4172	c.3956G>T	c.(3955-3957)cGt>cTt	p.R1319L	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1319	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CGAGTCTTCACGTTCATAAAT	0.383																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(3955-3957)cGt>cTt		bromodomain and WD repeat domain containing 3							164.0	144.0	151.0					X																	79942411		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79942411C>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.3956G>T	X.37:g.79942411C>A	ENSP00000362372:p.Arg1319Leu					BRWD3_ENST00000473691.1_5'UTR	p.R1319L	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			35	4172	-			1319			Bromo 2.		C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.3956G>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.655657	0.47467	.	.	ENSG00000165288	ENST00000373275	T	0.17054	2.3	4.53	4.53	0.55603	Bromodomain (4);	0.181713	0.46758	D	0.000263	T	0.13072	0.0317	N	0.25890	0.77	0.44345	D	0.997232	P	0.38565	0.637	B	0.35607	0.206	T	0.11717	-1.0576	9	.	.	.	-10.8165	16.4872	0.84188	0.0:1.0:0.0:0.0	.	1319	Q6RI45	BRWD3_HUMAN	L	1319	ENSP00000362372:R1319L	.	R	-	2	0	BRWD3	79829067	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.464000	0.60134	2.062000	0.61559	0.415000	0.27848	CGT		0.383	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		3	105	1	0	1	1	1	3	105				
PTPRD	5789	broad.mit.edu	37	9	8485768	8485768	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr9:8485768C>G	ENST00000381196.4	-	25	3592	c.3049G>C	c.(3049-3051)Gat>Cat	p.D1017H	PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.D1004H|PTPRD_ENST00000358503.5_Missense_Mutation_p.D995H|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.D1017H|PTPRD_ENST00000356435.5_Missense_Mutation_p.D1017H|PTPRD_ENST00000397606.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1017					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.D1017H(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTACCTTGATCCACAGGCAGT	0.448										TSP Lung(15;0.13)																												ENST00000381196.4																			1	Substitution - Missense(1)	p.D1017H(1)	prostate(1)	NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(3049-3051)Gat>Cat		protein tyrosine phosphatase, receptor type, D							63.0	61.0	62.0					9																	8485768		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8485768C>G	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3049G>C	9.37:g.8485768C>G	ENSP00000370593:p.Asp1017His	TSP Lung(15;0.13)				PTPRD_ENST00000540109.1_Missense_Mutation_p.D1017H|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.D995H|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.D1017H|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.D1004H	p.D1017H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	25	3592	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1017			Fibronectin type-III 8.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.3049G>C	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.337918	0.60963	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	T;T;T;T;T	0.54866	0.55;0.55;0.59;0.65;0.55	5.54	4.64	0.57946	Fibronectin, type III (1);	0.093792	0.64402	D	0.000001	T	0.59824	0.2222	L	0.43923	1.385	0.80722	D	1	P;D;P	0.60575	0.941;0.988;0.903	P;P;P	0.58577	0.831;0.841;0.682	T	0.58595	-0.7609	9	.	.	.	.	14.7181	0.69286	0.0:0.9298:0.0:0.0702	.	1004;1017;1017	G3XAE2;Q2HXI4;P23468	.;.;PTPRD_HUMAN	H	1017;1017;1004;995;1017	ENSP00000370593:D1017H;ENSP00000348812:D1017H;ENSP00000353187:D1004H;ENSP00000351293:D995H;ENSP00000438164:D1017H	.	D	-	1	0	PTPRD	8475768	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.989000	0.56958	1.477000	0.48234	0.655000	0.94253	GAT		0.448	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			17	44	0	0	0	1	0	17	44				
DNAH8	1769	broad.mit.edu	37	6	38816530	38816530	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr6:38816530C>T	ENST00000359357.3	+	35	4755	c.4501C>T	c.(4501-4503)Ctt>Ttt	p.L1501F	DNAH8_ENST00000449981.2_Missense_Mutation_p.L1718F|DNAH8_ENST00000441566.1_Missense_Mutation_p.L1501F			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1501					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L1501F(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTGGGTTTATCTTGAAGCCGT	0.358																																						ENST00000359357.3																			2	Substitution - Missense(2)	p.L1501F(2)	prostate(2)	NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(4501-4503)Ctt>Ttt		dynein, axonemal, heavy chain 8							91.0	98.0	96.0					6																	38816530		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38816530C>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.4501C>T	6.37:g.38816530C>T	ENSP00000352312:p.Leu1501Phe					DNAH8_ENST00000449981.2_Missense_Mutation_p.L1718F|DNAH8_ENST00000441566.1_Missense_Mutation_p.L1501F	p.L1501F							35	4755	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.4501C>T		.	.	.	.	.	.	.	.	.	.	C	21.9	4.220472	0.79464	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.81330	-1.48;-1.48;-1.48	5.78	5.78	0.91487	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	D	0.93223	0.7841	H	0.98996	4.395	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.94955	0.8103	10	0.87932	D	0	.	13.235	0.59965	0.0:0.9278:0.0:0.0722	.	1501	Q96JB1	DYH8_HUMAN	F	1706;1706;1501;1501	ENSP00000333363:L1706F;ENSP00000352312:L1501F;ENSP00000402294:L1501F	ENSP00000333363:L1706F	L	+	1	0	DNAH8	38924508	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.994000	0.40757	2.749000	0.94314	0.655000	0.94253	CTT		0.358	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		16	177	0	0	0	1	0	16	177				
ROS1	6098	broad.mit.edu	37	6	117645561	117645561	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr6:117645561C>A	ENST00000368508.3	-	34	5773	c.5575G>T	c.(5575-5577)Gaa>Taa	p.E1859*	ROS1_ENST00000368507.3_Nonsense_Mutation_p.E1853*|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1859					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AAACTTGTTTCTGGTATCCAA	0.294			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(5575-5577)Gaa>Taa		c-ros oncogene 1 , receptor tyrosine kinase							38.0	40.0	39.0					6																	117645561		2201	4284	6485	SO:0001587	stop_gained	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117645561C>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.5575G>T	6.37:g.117645561C>A	ENSP00000357494:p.Glu1859*					GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Nonsense_Mutation_p.E1853*	p.E1859*	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	34	5773	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1859					Q15368|Q5TDB5	Nonsense_Mutation	SNP	ENST00000368508.3	37	c.5575G>T	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	47	13.371248	0.99738	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	.	.	.	5.41	5.41	0.78517	.	0.204689	0.34002	N	0.004348	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	15.038	0.71764	0.0:1.0:0.0:0.0	.	.	.	.	X	1859;1853	.	ENSP00000357493:E1853X	E	-	1	0	ROS1	117752254	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.981000	0.40628	2.699000	0.92147	0.650000	0.86243	GAA		0.294	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			4	108	1	0	1	1	1	4	108				
SLC24A1	9187	broad.mit.edu	37	15	65917480	65917480	+	Silent	SNP	A	A	G			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr15:65917480A>G	ENST00000261892.6	+	2	1349	c.1062A>G	c.(1060-1062)gtA>gtG	p.V354V	SLC24A1_ENST00000544319.2_Silent_p.V354V|SLC24A1_ENST00000399033.4_Silent_p.V354V|SLC24A1_ENST00000537259.1_Silent_p.V354V|SLC24A1_ENST00000546330.1_Silent_p.V354V|SLC24A1_ENST00000339868.6_Silent_p.V354V	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	354					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.V354V(1)		breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GGACCAGTGTATCAGCCATCA	0.552																																						ENST00000261892.6																			1	Substitution - coding silent(1)	p.V354V(1)	prostate(1)	breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1060-1062)gtA>gtG		solute carrier family 24 (sodium/potassium/calcium exchanger), member 1							31.0	36.0	34.0					15																	65917480		1990	4173	6163	SO:0001819	synonymous_variant	9187				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	g.chr15:65917480A>G	AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.1062A>G	15.37:g.65917480A>G						SLC24A1_ENST00000546330.1_Silent_p.V354V|SLC24A1_ENST00000537259.1_Silent_p.V354V|SLC24A1_ENST00000544319.2_Silent_p.V354V|SLC24A1_ENST00000399033.4_Silent_p.V354V|SLC24A1_ENST00000339868.6_Silent_p.V354V	p.V354V	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN			2	1349	+			354					O43485|O75184|Q17RM9	Silent	SNP	ENST00000261892.6	37	c.1062A>G	CCDS45284.1																																																																																				0.552	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727		13	35	0	0	0	1	0	13	35				
LTBR	4055	broad.mit.edu	37	12	6495568	6495568	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr12:6495568A>G	ENST00000228918.4	+	6	951	c.625A>G	c.(625-627)Acc>Gcc	p.T209A	LTBR_ENST00000543190.1_Silent_p.Q69Q|LTBR_ENST00000541102.1_Missense_Mutation_p.T102A|LTBR_ENST00000539925.1_Missense_Mutation_p.T190A	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	209					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)	p.T209A(2)		breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						GTCCGACACAACCTGCAAAAA	0.577																																						ENST00000228918.4																			2	Substitution - Missense(2)	p.T209A(2)	prostate(2)	breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						c.(625-627)Acc>Gcc		lymphotoxin beta receptor (TNFR superfamily, member 3)							69.0	69.0	69.0					12																	6495568		2203	4300	6503	SO:0001583	missense	4055				apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity	g.chr12:6495568A>G	L04270	CCDS8544.1, CCDS59233.1	12p13	2013-05-22				ENSG00000111321		"""Tumor necrosis factor receptor superfamily"""	6718	protein-coding gene	gene with protein product		600979		D12S370		8171323, 8486360	Standard	NM_002342		Approved	TNFCR, TNFR-RP, TNFR2-RP, TNF-R-III, TNFRSF3	uc001qny.2	P36941		ENST00000228918.4:c.625A>G	12.37:g.6495568A>G	ENSP00000228918:p.Thr209Ala					LTBR_ENST00000539925.1_Missense_Mutation_p.T190A|LTBR_ENST00000541102.1_Missense_Mutation_p.T102A|LTBR_ENST00000543190.1_Silent_p.Q69Q	p.T209A	NM_002342.1	NP_002333.1	P36941	TNR3_HUMAN			6	951	+			209					B7Z1D2|D3DUR2|F5GXE7	Missense_Mutation	SNP	ENST00000228918.4	37	c.625A>G	CCDS8544.1	.	.	.	.	.	.	.	.	.	.	A	5.127	0.209074	0.09757	.	.	ENSG00000111321	ENST00000539925;ENST00000228918;ENST00000540343;ENST00000536876;ENST00000541102	T;T;T;T	0.60797	0.16;0.16;0.16;3.34	4.93	2.41	0.29592	TNFR/CD27/30/40/95 cysteine-rich region (2);	0.918539	0.09464	N	0.798607	T	0.45175	0.1329	L	0.43923	1.385	0.09310	N	1	B;B;B	0.15141	0.012;0.007;0.002	B;B;B	0.14023	0.01;0.005;0.002	T	0.32268	-0.9913	10	0.30078	T	0.28	-0.7177	4.3921	0.11346	0.694:0.2018:0.1042:0.0	.	190;190;209	F5GXE7;B7Z1D2;P36941	.;.;TNR3_HUMAN	A	190;209;102;204;102	ENSP00000440875:T190A;ENSP00000228918:T209A;ENSP00000437647:T204A;ENSP00000438605:T102A	ENSP00000228918:T209A	T	+	1	0	LTBR	6365829	0.000000	0.05858	0.659000	0.29680	0.040000	0.13550	0.349000	0.20055	0.747000	0.32809	0.459000	0.35465	ACC		0.577	LTBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399422.1			11	29	0	0	0	1	0	11	29				
KPRP	448834	broad.mit.edu	37	1	152732100	152732100	+	Silent	SNP	G	G	A			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr1:152732100G>A	ENST00000606109.1	+	1	64	c.36G>A	c.(34-36)ccG>ccA	p.P12P	KPRP_ENST00000368773.1_Silent_p.P12P			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	12	Gln-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.P12P(2)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCGCCTGCCGCTCCAACAGT	0.582																																						ENST00000368773.1																			2	Substitution - coding silent(2)	p.P12P(2)	prostate(1)|lung(1)	NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(34-36)ccG>ccA		keratinocyte proline-rich protein							71.0	70.0	71.0					1																	152732100		2203	4300	6503	SO:0001819	synonymous_variant	448834					cytoplasm		g.chr1:152732100G>A	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.36G>A	1.37:g.152732100G>A						KPRP_ENST00000606109.1_Silent_p.P12P	p.P12P	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	94	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		12			Gln-rich.			Silent	SNP	ENST00000606109.1	37	c.36G>A	CCDS30862.1																																																																																				0.582	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		28	92	0	0	0	1	0	28	92				
MFN1	55669	broad.mit.edu	37	3	179069810	179069810	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr3:179069810G>A	ENST00000471841.1	+	3	361	c.235G>A	c.(235-237)Gca>Aca	p.A79T	MFN1_ENST00000280653.7_Missense_Mutation_p.A79T|MFN1_ENST00000263969.5_Missense_Mutation_p.A79T	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	79	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CATGAAGGTGGCATTTTTTGG	0.378																																						ENST00000471841.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31						c.(235-237)Gca>Aca		mitofusin 1							148.0	154.0	152.0					3																	179069810		2203	4300	6503	SO:0001583	missense	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179069810G>A	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.235G>A	3.37:g.179069810G>A	ENSP00000420617:p.Ala79Thr					MFN1_ENST00000280653.7_Missense_Mutation_p.A79T|MFN1_ENST00000263969.5_Missense_Mutation_p.A79T	p.A79T	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		3	361	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		79					B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	ENST00000471841.1	37	c.235G>A	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095365	0.76870	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000467174;ENST00000263969	D;D;D;D	0.96967	-4.19;-4.19;-4.19;-4.19	5.16	5.16	0.70880	Dynamin, GTPase domain (1);	0.101398	0.64402	D	0.000003	D	0.98324	0.9444	M	0.89095	3.005	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.70227	0.968;0.938	D	0.98423	1.0578	10	0.46703	T	0.11	-9.1443	19.0061	0.92851	0.0:0.0:1.0:0.0	.	107;79	Q4AEJ4;Q8IWA4	.;MFN1_HUMAN	T	79	ENSP00000420617:A79T;ENSP00000280653:A79T;ENSP00000419134:A79T;ENSP00000263969:A79T	ENSP00000263969:A79T	A	+	1	0	MFN1	180552504	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	9.366000	0.97143	2.571000	0.86741	0.467000	0.42956	GCA		0.378	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		6	466	0	0	0	1	0	6	466				
RPH3A	22895	broad.mit.edu	37	12	113321125	113321125	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr12:113321125C>T	ENST00000389385.4	+	16	1851	c.1354C>T	c.(1354-1356)Cgg>Tgg	p.R452W	RPH3A_ENST00000420983.2_Missense_Mutation_p.R452W|RPH3A_ENST00000548866.1_Missense_Mutation_p.R403W|RPH3A_ENST00000543106.2_Missense_Mutation_p.R452W|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000551052.1_Missense_Mutation_p.R448W|RPH3A_ENST00000415485.3_Missense_Mutation_p.R452W|RPH3A_ENST00000447659.2_Missense_Mutation_p.R403W	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	452	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)	p.R448W(1)|p.R452W(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		AAAAACTCTGCGGAATACCCG	0.562																																						ENST00000389385.4																			2	Substitution - Missense(2)	p.R448W(1)|p.R452W(1)	prostate(2)	breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47						c.(1354-1356)Cgg>Tgg		rabphilin 3A homolog (mouse)							76.0	61.0	66.0					12																	113321125		2203	4300	6503	SO:0001583	missense	22895				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	g.chr12:113321125C>T	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.1354C>T	12.37:g.113321125C>T	ENSP00000374036:p.Arg452Trp					RPH3A_ENST00000543106.2_Missense_Mutation_p.R452W|RPH3A_ENST00000447659.2_Missense_Mutation_p.R403W|RPH3A_ENST00000415485.3_Missense_Mutation_p.R452W|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000420983.2_Missense_Mutation_p.R452W|RPH3A_ENST00000551052.1_Missense_Mutation_p.R448W|RPH3A_ENST00000548866.1_Missense_Mutation_p.R403W	p.R452W	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00453)	16	1851	+			452			C2 1.		B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	c.1354C>T	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.356011	0.82243	.	.	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983;ENST00000549913;ENST00000552755	T;T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	5.43	4.47	0.54385	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.56097	D	0.000038	T	0.79358	0.4432	L	0.58101	1.795	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.78314	0.991;0.977;0.977;0.991	T	0.80446	-0.1379	10	0.87932	D	0	.	10.4843	0.44713	0.3759:0.6241:0.0:0.0	.	403;452;452;448	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	W	452;452;403;448;452;403;452;104;104	ENSP00000440384:R452W;ENSP00000374036:R452W;ENSP00000413254:R403W;ENSP00000448297:R448W;ENSP00000405357:R452W;ENSP00000450347:R403W;ENSP00000408889:R452W	ENSP00000374036:R452W	R	+	1	2	RPH3A	111805508	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.015000	0.49599	2.546000	0.85860	0.551000	0.68910	CGG		0.562	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		14	67	0	0	0	1	0	14	67				
CPNE9	151835	broad.mit.edu	37	3	9771302	9771302	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr3:9771302C>T	ENST00000383832.3	+	21	1778	c.1588C>T	c.(1588-1590)Cgc>Tgc	p.R530C	BRPF1_ENST00000383829.2_5'Flank|BRPF1_ENST00000424362.1_5'Flank|BRPF1_ENST00000433861.2_5'Flank|BRPF1_ENST00000302054.3_5'Flank	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	530						extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.R530C(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					GTCCTATATGCGCACCAGAGA	0.627																																						ENST00000383832.3																			2	Substitution - Missense(2)	p.R530C(2)	endometrium(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(1588-1590)Cgc>Tgc		copine family member IX							56.0	65.0	62.0					3																	9771302		2131	4240	6371	SO:0001583	missense	151835							g.chr3:9771302C>T		CCDS2574.2	3p25.3	2008-10-30			ENSG00000144550	ENSG00000144550			24336	protein-coding gene	gene with protein product						9430674	Standard	XM_006712990		Approved	KIAA4217	uc003bsd.3	Q8IYJ1	OTTHUMG00000128418	ENST00000383832.3:c.1588C>T	3.37:g.9771302C>T	ENSP00000373343:p.Arg530Cys						p.R530C	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN			21	1778	+	Medulloblastoma(99;0.227)		530					A1L430|A6NDX6|A8MSP8	Missense_Mutation	SNP	ENST00000383832.3	37	c.1588C>T	CCDS2574.2	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584898	0.86748	.	.	ENSG00000144550	ENST00000383832	T	0.06371	3.31	4.98	4.98	0.66077	.	0.489246	0.18396	U	0.142517	T	0.21145	0.0509	M	0.88450	2.955	0.80722	D	1	D	0.61080	0.989	P	0.52343	0.696	T	0.01652	-1.1303	10	0.87932	D	0	.	11.4504	0.50149	0.3071:0.6929:0.0:0.0	.	530	Q8IYJ1	CPNE9_HUMAN	C	530	ENSP00000373343:R530C	ENSP00000373343:R530C	R	+	1	0	CPNE9	9746302	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.285000	0.72658	2.278000	0.76064	0.655000	0.94253	CGC		0.627	CPNE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250205.4	NM_001033755		14	78	0	0	0	1	0	14	78				
SLC12A7	10723	broad.mit.edu	37	5	1081839	1081839	+	Missense_Mutation	SNP	C	C	A	rs190368642	byFrequency	TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr5:1081839C>A	ENST00000264930.5	-	9	1193	c.1150G>T	c.(1150-1152)Gcg>Tcg	p.A384S		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	384					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CCCGCGTGCGCGTACGTACTC	0.667																																						ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(1150-1152)Gcg>Tcg		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)						67.0	65.0	65.0					5																	1081839		2201	4300	6501	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1081839C>A	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.1150G>T	5.37:g.1081839C>A	ENSP00000264930:p.Ala384Ser						p.A384S	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		9	1193	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		384					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.1150G>T	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.996393	0.35226	.	.	ENSG00000113504	ENST00000264930	T	0.63096	-0.02	4.09	-4.63	0.03359	.	0.649647	0.15578	N	0.255071	T	0.28001	0.0690	N	0.04043	-0.29	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.08207	-1.0733	10	0.44086	T	0.13	.	2.3682	0.04324	0.5381:0.1808:0.1024:0.1786	.	384	Q9Y666	S12A7_HUMAN	S	384	ENSP00000264930:A384S	ENSP00000264930:A384S	A	-	1	0	SLC12A7	1134839	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.706000	0.05047	-0.271000	0.09272	0.491000	0.48974	GCG		0.667	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		3	99	1	0	1	1	1	3	99				
FKBP5	2289	broad.mit.edu	37	6	35588018	35588018	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr6:35588018G>A	ENST00000539068.1	-	4	486	c.284C>T	c.(283-285)gCt>gTt	p.A95V	FKBP5_ENST00000542713.1_Missense_Mutation_p.A95V|FKBP5_ENST00000536438.1_Missense_Mutation_p.A95V|FKBP5_ENST00000357266.4_Missense_Mutation_p.A95V|FKBP5_ENST00000540787.1_Intron	NM_001145776.1	NP_001139248.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	95	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.A95V(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						CTTCATGGTAGCCACCCCAAT	0.423																																						ENST00000542713.1																			1	Substitution - Missense(1)	p.A95V(1)	prostate(1)	breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						c.(283-285)gCt>gTt		FK506 binding protein 5							149.0	123.0	132.0					6																	35588018		2203	4300	6503	SO:0001583	missense	2289				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity	g.chr6:35588018G>A	U42031	CCDS4808.1, CCDS54996.1	6p21.31	2013-01-10	2001-11-28		ENSG00000096060	ENSG00000096060		"""Tetratricopeptide (TTC) repeat domain containing"""	3721	protein-coding gene	gene with protein product		602623	"""FK506-binding protein 5"""			9001212	Standard	NM_004117		Approved	FKBP51, FKBP54, PPIase, P54, Ptg-10	uc003okx.2	Q13451	OTTHUMG00000014576	ENST00000539068.1:c.284C>T	6.37:g.35588018G>A	ENSP00000441205:p.Ala95Val					FKBP5_ENST00000357266.4_Missense_Mutation_p.A95V|FKBP5_ENST00000540787.1_Intron|FKBP5_ENST00000539068.1_Missense_Mutation_p.A95V|FKBP5_ENST00000536438.1_Missense_Mutation_p.A95V	p.A95V	NM_001145777.1	NP_001139249.1	Q13451	FKBP5_HUMAN			4	441	-			95			PPIase FKBP-type 1.		F5H7R1|Q59EB8|Q5TGM6	Missense_Mutation	SNP	ENST00000539068.1	37	c.284C>T	CCDS4808.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.722616	0.68959	.	.	ENSG00000096060	ENST00000536438;ENST00000357266;ENST00000539068;ENST00000337746;ENST00000543400;ENST00000542713;ENST00000373875	D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99	5.75	4.85	0.62838	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.463174	0.23405	N	0.048537	T	0.76212	0.3956	L	0.52759	1.655	0.36092	D	0.84352	B;B	0.21225	0.053;0.04	B;B	0.17979	0.013;0.02	T	0.76887	-0.2793	10	0.72032	D	0.01	-2.5356	16.2259	0.82288	0.0:0.0:0.8668:0.1332	.	95;95	F5H7R1;Q13451	.;FKBP5_HUMAN	V	95;95;95;95;58;95;93	ENSP00000444810:A95V;ENSP00000349811:A95V;ENSP00000441205:A95V;ENSP00000442340:A95V	ENSP00000338160:A95V	A	-	2	0	FKBP5	35695996	1.000000	0.71417	0.994000	0.49952	0.977000	0.68977	4.146000	0.58072	2.708000	0.92522	0.650000	0.86243	GCT		0.423	FKBP5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040309.2			45	137	0	0	0	1	0	45	137				
SMC4	10051	broad.mit.edu	37	3	160141224	160141224	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr3:160141224G>C	ENST00000357388.3	+	14	2482	c.2031G>C	c.(2029-2031)tgG>tgC	p.W677C	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Missense_Mutation_p.W677C|SMC4_ENST00000469762.1_Missense_Mutation_p.W652C|SMC4_ENST00000344722.5_Missense_Mutation_p.W677C|SMC4_ENST00000360111.2_Missense_Mutation_p.W677C	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	677	Flexible hinge.				kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGGCTGTATGGGCGAAAAAGA	0.279																																						ENST00000357388.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(2029-2031)tgG>tgC		structural maintenance of chromosomes 4							54.0	59.0	57.0					3																	160141224		2082	4267	6349	SO:0001583	missense	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160141224G>C	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.2031G>C	3.37:g.160141224G>C	ENSP00000349961:p.Trp677Cys					SMC4_ENST00000344722.5_Missense_Mutation_p.W677C|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Missense_Mutation_p.W677C|SMC4_ENST00000469762.1_Missense_Mutation_p.W652C|SMC4_ENST00000360111.2_Missense_Mutation_p.W677C	p.W677C	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		14	2482	+			677			Flexible hinge.		A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	c.2031G>C	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946917	0.73672	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0	5.57	4.68	0.58851	SMCs flexible hinge (3);RecF/RecN/SMC (1);	0.052027	0.85682	D	0.000000	D	0.89653	0.6777	L	0.55481	1.735	0.80722	D	1	D;D;D;D	0.89917	1.0;0.974;1.0;1.0	D;D;D;D	0.72982	0.957;0.91;0.979;0.975	D	0.88093	0.2814	10	0.38643	T	0.18	-6.298	15.3563	0.74428	0.0704:0.0:0.9296:0.0	.	677;652;652;677	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	C	677;677;652;677;677;271	ENSP00000349961:W677C;ENSP00000353225:W677C;ENSP00000417964:W652C;ENSP00000420734:W677C;ENSP00000341382:W677C	ENSP00000341382:W677C	W	+	3	0	SMC4	161623918	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.735000	0.84939	2.785000	0.95823	0.650000	0.86243	TGG		0.279	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			4	253	0	0	0	1	0	4	253				
KRT6C	286887	broad.mit.edu	37	12	52863634	52863634	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr12:52863634C>T	ENST00000252250.6	-	7	1291	c.1244G>A	c.(1243-1245)cGt>cAt	p.R415H		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	415	Coil 2.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.R415H(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CATCTCCCCACGCTGCTCAGC	0.602																																						ENST00000252250.6																			1	Substitution - Missense(1)	p.R415H(1)	prostate(1)	cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23						c.(1243-1245)cGt>cAt		keratin 6C							70.0	57.0	61.0					12																	52863634		2203	4300	6503	SO:0001583	missense	286887				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52863634C>T	L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20406	protein-coding gene	gene with protein product		612315	"""keratin 6E"""	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.1244G>A	12.37:g.52863634C>T	ENSP00000252250:p.Arg415His						p.R415H	NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0828)	7	1291	-			415			Coil 2.|Rod.		A1L4L5|P48666|Q2TAZ9|Q7RTN9	Missense_Mutation	SNP	ENST00000252250.6	37	c.1244G>A	CCDS8829.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.683509	0.68157	.	.	ENSG00000170465	ENST00000252250;ENST00000411979	D	0.90385	-2.66	3.92	3.01	0.34805	Filament (1);	0.000000	0.64402	D	0.000012	D	0.92391	0.7585	M	0.75615	2.305	0.46185	D	0.998916	D	0.58268	0.982	P	0.54346	0.749	D	0.92675	0.6153	10	0.59425	D	0.04	.	12.2772	0.54741	0.0:0.9108:0.0:0.0892	.	415	P48668	K2C6C_HUMAN	H	415;400	ENSP00000252250:R415H	ENSP00000252250:R415H	R	-	2	0	KRT6C	51149901	1.000000	0.71417	1.000000	0.80357	0.486000	0.33341	3.709000	0.54853	2.172000	0.68678	0.448000	0.29417	CGT		0.602	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086		19	75	0	0	0	1	0	19	75				
ADAM2	2515	broad.mit.edu	37	8	39645632	39645632	+	Missense_Mutation	SNP	G	G	A	rs372523098		TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr8:39645632G>A	ENST00000265708.4	-	9	884	c.781C>T	c.(781-783)Cgt>Tgt	p.R261C	ADAM2_ENST00000347580.4_Missense_Mutation_p.R242C|ADAM2_ENST00000521880.1_Missense_Mutation_p.R261C|ADAM2_ENST00000379853.2_Intron	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	261	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TCATGAGGACGTAAAACAAGA	0.303																																						ENST00000265708.4																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53						c.(781-783)Cgt>Tgt		ADAM metallopeptidase domain 2		G	CYS/ARG	3,4401	6.2+/-15.9	0,3,2199	94.0	91.0	92.0		781	2.6	1.0	8		92	1,8579	1.2+/-3.3	0,1,4289	no	missense	ADAM2	NM_001464.3	180	0,4,6488	AA,AG,GG		0.0117,0.0681,0.0308	probably-damaging	261/736	39645632	4,12980	2202	4290	6492	SO:0001583	missense	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39645632G>A	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.781C>T	8.37:g.39645632G>A	ENSP00000265708:p.Arg261Cys					ADAM2_ENST00000521880.1_Missense_Mutation_p.R261C|ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000347580.4_Missense_Mutation_p.R242C	p.R261C	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	9	884	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	261			Peptidase M12B.		P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	c.781C>T	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.971648	0.53614	6.81E-4	1.17E-4	ENSG00000104755	ENST00000347580;ENST00000265708;ENST00000521880	T;T;T	0.64803	-0.12;-0.12;-0.12	4.57	2.63	0.31362	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	T	0.80025	0.4548	M	0.92555	3.32	0.43164	D	0.994956	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.80091	-0.1527	8	.	.	.	.	6.2234	0.20693	0.1038:0.0:0.7141:0.1821	.	261;242;261	B4DWY7;Q99965-2;Q99965	.;.;ADAM2_HUMAN	C	242;261;261	ENSP00000343854:R242C;ENSP00000265708:R261C;ENSP00000429352:R261C	.	R	-	1	0	ADAM2	39764789	0.495000	0.26051	0.994000	0.49952	0.949000	0.60115	1.616000	0.36933	1.041000	0.40125	0.460000	0.39030	CGT		0.303	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		4	159	0	0	0	1	0	4	159				
ARHGDIB	397	broad.mit.edu	37	12	15102816	15102816	+	Missense_Mutation	SNP	G	G	A	rs544170735		TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr12:15102816G>A	ENST00000228945.4	-	3	329	c.185C>T	c.(184-186)cCg>cTg	p.P62L	ARHGDIB_ENST00000541546.1_Missense_Mutation_p.P62L|ARHGDIB_ENST00000539131.1_5'Flank|ARHGDIB_ENST00000541644.1_Missense_Mutation_p.P62L	NM_001175.4	NP_001166.3	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	62					actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of cell adhesion (GO:0007162)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)	p.P62L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						GGGGGCTTTCGGATCTGCAGG	0.483																																						ENST00000228945.4																			1	Substitution - Missense(1)	p.P62L(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						c.(184-186)cCg>cTg		Rho GDP dissociation inhibitor (GDI) beta							108.0	97.0	101.0					12																	15102816		2203	4300	6503	SO:0001583	missense	397				actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity	g.chr12:15102816G>A	L07916	CCDS8671.1	12p12.3	2014-01-30				ENSG00000111348		"""Endogenous ligands"""	679	protein-coding gene	gene with protein product		602843		RAP1GN1, GDIA2, GDID4		8434008, 8356058	Standard	NM_001175		Approved	Ly-GDI, RhoGDI2	uc001rcq.1	P52566		ENST00000228945.4:c.185C>T	12.37:g.15102816G>A	ENSP00000228945:p.Pro62Leu					ARHGDIB_ENST00000541644.1_Missense_Mutation_p.P62L|ARHGDIB_ENST00000541546.1_Missense_Mutation_p.P62L	p.P62L	NM_001175.4	NP_001166.3	P52566	GDIR2_HUMAN			3	329	-			62					B5BU79	Missense_Mutation	SNP	ENST00000228945.4	37	c.185C>T	CCDS8671.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232022	0.79688	.	.	ENSG00000111348	ENST00000228945;ENST00000541644;ENST00000541546;ENST00000545895;ENST00000541380;ENST00000542276	.	.	.	5.23	5.23	0.72850	Immunoglobulin E-set (1);	0.055730	0.64402	D	0.000001	T	0.77844	0.4191	H	0.94306	3.52	0.80722	D	1	B	0.33345	0.409	B	0.35813	0.211	T	0.82110	-0.0619	9	0.62326	D	0.03	-11.0867	16.3406	0.83081	0.0:0.0:1.0:0.0	.	62	P52566	GDIR2_HUMAN	L	62	.	ENSP00000228945:P62L	P	-	2	0	ARHGDIB	14994083	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	7.067000	0.76741	2.724000	0.93272	0.549000	0.68633	CCG		0.483	ARHGDIB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400871.1	NM_001175		28	109	0	0	0	1	0	28	109				
AOC4P	90586	broad.mit.edu	37	17	41020769	41020769	+	RNA	SNP	G	G	A			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr17:41020769G>A	ENST00000585538.1	+	0	1608					NR_002773.1				amine oxidase, copper containing 4, pseudogene																		CCACACCACCGGCTACATCAG	0.527																																						ENST00000585538.1																			0																																																			0							g.chr17:41020769G>A			17q21.31	2013-06-19			ENSG00000260105	ENSG00000260105			48869	pseudogene	pseudogene						20013028	Standard	NR_002773		Approved				OTTHUMG00000176596		17.37:g.41020769G>A								NR_002773.1						0	1608	+									RNA	SNP	ENST00000585538.1	37																																																																																						0.527	AOC4P-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000452449.1			17	27	0	0	0	1	0	17	27				
SPTB	6710	broad.mit.edu	37	14	65239589	65239589	+	Silent	SNP	G	G	T	rs142168941		TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr14:65239589G>T	ENST00000389721.5	-	25	5294	c.5262C>A	c.(5260-5262)atC>atA	p.I1754I	SPTB_ENST00000389722.3_Silent_p.I1754I|SPTB_ENST00000389720.3_Silent_p.I1754I|SPTB_ENST00000556626.1_Silent_p.I1754I|SPTB_ENST00000542895.1_Silent_p.I1754I	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1754					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.I1754I(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGAGTCGCTCGATGAAGGCAT	0.637																																						ENST00000389722.3																			1	Substitution - coding silent(1)	p.I1754I(1)	prostate(1)	breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(5260-5262)atC>atA		spectrin, beta, erythrocytic							49.0	43.0	45.0					14																	65239589		2203	4300	6503	SO:0001819	synonymous_variant	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65239589G>T		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.5262C>A	14.37:g.65239589G>T						SPTB_ENST00000389720.3_Silent_p.I1754I|SPTB_ENST00000389721.5_Silent_p.I1754I|SPTB_ENST00000542895.1_Silent_p.I1754I|SPTB_ENST00000556626.1_Silent_p.I1754I	p.I1754I	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	25	5315	-		all_lung(585;4.15e-09)	1754					Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	c.5262C>A	CCDS32100.1																																																																																				0.637	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			18	52	1	0	1.74485e-21	1	2.14279e-21	18	52				
DCHS2	54798	broad.mit.edu	37	4	155254246	155254246	+	Silent	SNP	G	G	A			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr4:155254246G>A	ENST00000357232.4	-	9	1616	c.1617C>T	c.(1615-1617)aaC>aaT	p.N539N	DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Silent_p.N1038N	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	539	Cadherin 4. {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.N1038N(1)|p.N539N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCAGGCTGCCGTTGAGGAACA	0.672																																						ENST00000357232.3																			2	Substitution - coding silent(2)	p.N1038N(1)|p.N539N(1)	prostate(2)	NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(1615-1617)aaC>aaT		dachsous cadherin-related 2							25.0	28.0	27.0					4																	155254246		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155254246G>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1617C>T	4.37:g.155254246G>A						DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Silent_p.N1038N	p.N539N	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	9	1616	-	all_hematologic(180;0.208)	Renal(120;0.0854)	539			Cadherin 4.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.1617C>T	CCDS3785.1																																																																																				0.672	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		4	49	0	0	0	1	0	4	49				
A1BG	1	broad.mit.edu	37	19	58862934	58862934	+	Missense_Mutation	SNP	G	G	A	rs184830744		TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr19:58862934G>A	ENST00000263100.3	-	5	794	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C	CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000600686.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	245	Ig-like V-type 3.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.R245C(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		TTCTCCCCGCGCCGTAGCTGG	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		16495	0.001		0.0	False		,,,				2504	0.0					ENST00000263100.3																			1	Substitution - Missense(1)	p.R245C(1)	prostate(1)	NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15						c.(733-735)Cgc>Tgc		alpha-1-B glycoprotein							68.0	54.0	58.0					19																	58862934		2203	4300	6503	SO:0001583	missense	1					extracellular region		g.chr19:58862934G>A		CCDS12976.1	19q13.43	2013-10-15			ENSG00000121410	ENSG00000121410		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5	protein-coding gene	gene with protein product		138670				2591067	Standard	NM_130786		Approved		uc002qsd.4	P04217	OTTHUMG00000183507	ENST00000263100.3:c.733C>T	19.37:g.58862934G>A	ENSP00000263100:p.Arg245Cys					A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000594950.1_RNA	p.R245C	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)	5	794	-		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)	245			Ig-like V-type 3.		A8K052|Q68CK0|Q8IYJ6|Q96P39	Missense_Mutation	SNP	ENST00000263100.3	37	c.733C>T	CCDS12976.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	15.39	2.818260	0.50633	.	.	ENSG00000121410	ENST00000263100;ENST00000453054	T	0.13778	2.56	4.08	1.61	0.23674	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.981160	0.08300	N	0.967061	T	0.34542	0.0901	M	0.71036	2.16	0.09310	N	1	D	0.89917	1.0	D	0.65874	0.939	T	0.18524	-1.0334	10	0.87932	D	0	.	11.514	0.50509	0.0:0.3465:0.6535:0.0	.	245	P04217	A1BG_HUMAN	C	245;123	ENSP00000263100:R245C	ENSP00000263100:R245C	R	-	1	0	A1BG	63554746	0.000000	0.05858	0.019000	0.16419	0.029000	0.11900	-0.154000	0.10130	0.976000	0.38417	0.462000	0.41574	CGC		0.627	A1BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466930.1	NM_130786		10	47	0	0	0	1	0	10	47				
WHAMMP3	339005	broad.mit.edu	37	15	23191911	23191911	+	RNA	SNP	C	C	T	rs147199465		TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr15:23191911C>T	ENST00000400153.2	-	0	1785					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		TGATTTTCTTCGCACTGATCC	0.408																																						ENST00000400153.2																			0																																																			0							g.chr15:23191911C>T	BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23191911C>T								NR_003521.1						0	1785	-								Q1A5X8|Q52M16|Q52M18	RNA	SNP	ENST00000400153.2	37																																																																																						0.408	WHAMMP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415907.1	NR_003521		3	72	0	0	0	1	0	3	72				
PCDHGC5	56097	broad.mit.edu	37	5	140870417	140870417	+	Missense_Mutation	SNP	G	G	A	rs374508743		TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr5:140870417G>A	ENST00000252087.1	+	1	1610	c.1610G>A	c.(1609-1611)cGa>cAa	p.R537Q	PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB7_ENST00000398594.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	537	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R537P(2)|p.R537Q(2)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGGGGTTCGAGACTCCGGC	0.537																																						ENST00000252087.1																			4	Substitution - Missense(4)	p.R537P(2)|p.R537Q(2)	prostate(2)|lung(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1609-1611)cGa>cAa				G	,,,,,,,,,,,,,,,,,,,,GLN/ARG,,,,GLN/ARG	0,4406		0,0,2203	70.0	70.0	70.0		,,,,,,,,,,,,,,,,,,,,1610,,,,1610	4.6	1.0	5		70	3,8597	3.0+/-9.4	0,3,4297	no	intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense,intron,intron,intron,missense	PCDHGC3,PCDHGB4,PCDHGA8,PCDHGA12,PCDHGC5,PCDHGC4,PCDHGB7,PCDHGB6,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA11,PCDHGA10,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_002588.2,NM_003735.2,NM_003736.2,NM_018912.2,NM_018913.2,NM_018914.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_018926.2,NM_018927.3,NM_018928.2,NM_018929.2,NM_032088.1,NM_032092.1,NM_032403.1,NM_032407.1	,,,,,,,,,,,,,,,,,,,,43,,,,43	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,,,,,,,,,,,,,,,,,,,,possibly-damaging,,,,possibly-damaging	,,,,,,,,,,,,,,,,,,,,537/945,,,,537/879	140870417	3,13003	2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140870417G>A	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.1610G>A	5.37:g.140870417G>A	ENSP00000252087:p.Arg537Gln					PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron	p.R537Q	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1610	+			537			Cadherin 5.		Q9Y5C2	Missense_Mutation	SNP	ENST00000252087.1	37	c.1610G>A	CCDS4263.1	.	.	.	.	.	.	.	.	.	.	G	9.682	1.149562	0.21288	0.0	3.49E-4	ENSG00000240764	ENST00000252087	T	0.52754	0.65	5.45	4.59	0.56863	Cadherin (5);Cadherin-like (1);	0.146167	0.31335	N	0.007824	T	0.44664	0.1304	L	0.33189	0.99	0.34071	D	0.658507	B;D	0.57571	0.321;0.98	B;P	0.55615	0.025;0.78	T	0.50898	-0.8773	10	0.13470	T	0.59	.	8.7999	0.34903	0.227:0.0:0.773:0.0	.	537;537	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	Q	537	ENSP00000252087:R537Q	ENSP00000252087:R537Q	R	+	2	0	PCDHGC5	140850601	0.002000	0.14202	1.000000	0.80357	0.988000	0.76386	0.494000	0.22467	1.543000	0.49345	0.655000	0.94253	CGA		0.537	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	NM_018929		37	109	0	0	0	1	0	37	109				
SHROOM4	57477	broad.mit.edu	37	X	50378349	50378349	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chrX:50378349G>A	ENST00000289292.7	-	4	1007	c.724C>T	c.(724-726)Cgc>Tgc	p.R242C	SHROOM4_ENST00000376020.2_Missense_Mutation_p.R242C|SHROOM4_ENST00000460112.3_Missense_Mutation_p.R126C			Q9ULL8	SHRM4_HUMAN	shroom family member 4	242					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)	p.R242C(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CCATTGGTGCGCCGACTACCT	0.637													G|||	1	0.000264901	0.0	0.0	3775	,	,		13342	0.0		0.001	False		,,,				2504	0.0					ENST00000376020.2																			1	Substitution - Missense(1)	p.R242C(1)	prostate(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(724-726)Cgc>Tgc		shroom family member 4							16.0	14.0	15.0					X																	50378349		2200	4294	6494	SO:0001583	missense	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50378349G>A	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.724C>T	X.37:g.50378349G>A	ENSP00000289292:p.Arg242Cys					SHROOM4_ENST00000289292.7_Missense_Mutation_p.R242C|SHROOM4_ENST00000460112.3_Missense_Mutation_p.R126C	p.R242C	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			4	749	-	Ovarian(276;0.236)		242					A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	c.724C>T	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	G	2.482	-0.319468	0.05386	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.14893	2.84;2.84;2.47	6.07	3.11	0.35812	.	1.051720	0.07304	N	0.874622	T	0.13286	0.0322	L	0.29908	0.895	0.09310	N	1	B	0.14438	0.01	B	0.04013	0.001	T	0.30357	-0.9981	10	0.54805	T	0.06	.	5.4366	0.16484	0.0789:0.1228:0.565:0.2333	.	242	Q9ULL8	SHRM4_HUMAN	C	242;242;126	ENSP00000289292:R242C;ENSP00000365188:R242C;ENSP00000421450:R126C	ENSP00000289292:R242C	R	-	1	0	SHROOM4	50395089	0.007000	0.16637	0.003000	0.11579	0.512000	0.34134	1.544000	0.36158	0.653000	0.30826	0.600000	0.82982	CGC		0.637	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		3	9	0	0	0	1	0	3	9				
ST8SIA3	51046	broad.mit.edu	37	18	55024179	55024179	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr18:55024179A>T	ENST00000324000.3	+	3	2372	c.338A>T	c.(337-339)aAt>aTt	p.N113I		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	113					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)	p.N113I(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		GTAATAAAAAATTTTTCTTTG	0.318																																						ENST00000324000.3																			1	Substitution - Missense(1)	p.N113I(1)	prostate(1)	breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36						c.(337-339)aAt>aTt		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3							57.0	61.0	59.0					18																	55024179		2202	4300	6502	SO:0001583	missense	51046				glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr18:55024179A>T	AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"""Sialyltransferases"""	14269	protein-coding gene	gene with protein product	"""ST8Sia III"""	609478	"""sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"""	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.338A>T	18.37:g.55024179A>T	ENSP00000320431:p.Asn113Ile						p.N113I	NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN		READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)	3	2372	+			113					A8K0F2|Q6B085|Q9NS41	Missense_Mutation	SNP	ENST00000324000.3	37	c.338A>T	CCDS32834.1	.	.	.	.	.	.	.	.	.	.	A	18.99	3.739995	0.69304	.	.	ENSG00000177511	ENST00000541833;ENST00000324000	T	0.30448	1.53	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.44222	0.1283	M	0.81112	2.525	0.80722	D	1	P	0.49253	0.921	P	0.47251	0.542	T	0.42015	-0.9476	10	0.26408	T	0.33	0.0048	15.7114	0.77631	1.0:0.0:0.0:0.0	.	113	O43173	SIA8C_HUMAN	I	220;113	ENSP00000320431:N113I	ENSP00000320431:N113I	N	+	2	0	ST8SIA3	53175177	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.936000	0.92931	2.193000	0.70182	0.533000	0.62120	AAT		0.318	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449765.1	NM_015879		35	146	0	0	0	1	0	35	146				
DDX28	55794	broad.mit.edu	37	16	68056489	68056489	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr16:68056489C>A	ENST00000332395.5	-	1	1281	c.617G>T	c.(616-618)gGc>gTc	p.G206V	DUS2_ENST00000432752.1_5'Flank|DUS2_ENST00000565263.1_5'Flank|DUS2_ENST00000358896.6_5'Flank	NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	206	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.G206V(2)		central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		AAGGACCAGGCCTCGGGGCGC	0.662																																						ENST00000332395.5																			2	Substitution - Missense(2)	p.G206V(2)	prostate(2)	central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(616-618)gGc>gTc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 28							31.0	37.0	35.0					16																	68056489		2193	4295	6488	SO:0001583	missense	55794					mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr16:68056489C>A	AF329821	CCDS10858.1	16q22.1-q22.3	2008-02-05	2003-06-13		ENSG00000182810	ENSG00000182810		"""DEAD-boxes"""	17330	protein-coding gene	gene with protein product		607618	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 28"""			10493829, 11350955	Standard	NM_018380		Approved	MDDX28, FLJ11282	uc002evh.2	Q9NUL7	OTTHUMG00000137549	ENST00000332395.5:c.617G>T	16.37:g.68056489C>A	ENSP00000332340:p.Gly206Val						p.G206V	NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)	1	1281	-		Ovarian(137;0.0563)	206			Helicase ATP-binding.			Missense_Mutation	SNP	ENST00000332395.5	37	c.617G>T	CCDS10858.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.547264	0.45383	.	.	ENSG00000182810	ENST00000332395	T	0.12569	2.67	4.99	3.99	0.46301	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.170443	0.51477	D	0.000090	T	0.10895	0.0266	N	0.04959	-0.14	0.53005	D	0.999963	B	0.29508	0.246	B	0.41174	0.349	T	0.35226	-0.9797	10	0.48119	T	0.1	-17.2886	14.3328	0.66569	0.0:0.8517:0.1483:0.0	.	206	Q9NUL7	DDX28_HUMAN	V	206	ENSP00000332340:G206V	ENSP00000332340:G206V	G	-	2	0	DDX28	66613990	0.431000	0.25546	0.988000	0.46212	0.229000	0.25112	1.158000	0.31737	2.610000	0.88304	0.561000	0.74099	GGC		0.662	DDX28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268883.1	NM_018380		6	69	1	0	0.00116845	1	0.00134084	6	69				
CLEC1A	51267	broad.mit.edu	37	12	10234003	10234003	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr12:10234003T>A	ENST00000315330.4	-	3	286	c.224A>T	c.(223-225)tAc>tTc	p.Y75F	CLEC1A_ENST00000457018.2_Missense_Mutation_p.Y42F|CLEC1A_ENST00000420265.2_Intron|RN7SKP161_ENST00000411110.1_RNA	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	75					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.Y75F(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						GAGCTGGTAGTACTGAAAAAC	0.363																																						ENST00000315330.4																			1	Substitution - Missense(1)	p.Y75F(1)	prostate(1)	breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(223-225)tAc>tTc		C-type lectin domain family 1, member A							103.0	102.0	102.0					12																	10234003		2203	4300	6503	SO:0001583	missense	51267				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity	g.chr12:10234003T>A	AY358587	CCDS8612.1, CCDS73443.1	12p13.31	2005-02-09				ENSG00000150048		"""C-type lectin domain containing"""	24355	protein-coding gene	gene with protein product		606782				10671229, 11745369	Standard	XM_005253383		Approved	CLEC1, MGC34328	uc001qxb.3	Q8NC01		ENST00000315330.4:c.224A>T	12.37:g.10234003T>A	ENSP00000326407:p.Tyr75Phe					CLEC1A_ENST00000420265.2_Intron|CLEC1A_ENST00000457018.2_Missense_Mutation_p.Y42F	p.Y75F	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN			3	286	-			75					Q8IUW7|Q9NZH3	Missense_Mutation	SNP	ENST00000315330.4	37	c.224A>T	CCDS8612.1	.	.	.	.	.	.	.	.	.	.	T	2.116	-0.402514	0.04865	.	.	ENSG00000150048	ENST00000315330;ENST00000457018	T;T	0.01379	4.96;5.03	4.71	-1.23	0.09465	.	0.558526	0.16397	N	0.216217	T	0.00754	0.0025	N	0.10916	0.065	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.53408	-0.8443	10	0.11794	T	0.64	.	4.8277	0.13425	0.3393:0.0:0.0952:0.5655	.	42;75	E9PFB4;Q8NC01	.;CLC1A_HUMAN	F	75;42	ENSP00000326407:Y75F;ENSP00000415048:Y42F	ENSP00000326407:Y75F	Y	-	2	0	CLEC1A	10125270	0.998000	0.40836	0.994000	0.49952	0.922000	0.55478	0.557000	0.23454	-0.401000	0.07644	-0.490000	0.04691	TAC		0.363	CLEC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399924.1	NM_016511		30	103	0	0	0	1	0	30	103				
PLCXD3	345557	broad.mit.edu	37	5	41382213	41382213	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr5:41382213G>A	ENST00000377801.3	-	2	601	c.527C>T	c.(526-528)gCc>gTc	p.A176V	PLCXD3_ENST00000328457.3_Missense_Mutation_p.A176V			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	176	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AACTTCCTGGGCAAAAATCGC	0.448																																						ENST00000377801.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(526-528)gCc>gTc		phosphatidylinositol-specific phospholipase C, X domain containing 3							96.0	95.0	96.0					5																	41382213		2203	4300	6503	SO:0001583	missense	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41382213G>A		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.527C>T	5.37:g.41382213G>A	ENSP00000367032:p.Ala176Val					PLCXD3_ENST00000328457.3_Missense_Mutation_p.A176V	p.A176V			Q63HM9	PLCX3_HUMAN			2	601	-			176			PI-PLC X-box.		A6NL04	Missense_Mutation	SNP	ENST00000377801.3	37	c.527C>T	CCDS34150.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.076016	0.36662	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	T;T	0.63744	-0.06;-0.06	5.81	5.81	0.92471	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (1);	0.046791	0.85682	N	0.000000	T	0.60353	0.2262	N	0.03903	-0.33	0.80722	D	1	D	0.69078	0.997	D	0.74348	0.983	T	0.64002	-0.6509	10	0.21540	T	0.41	-13.7964	20.0784	0.97758	0.0:0.0:1.0:0.0	.	176	Q63HM9	PLCX3_HUMAN	V	176	ENSP00000367032:A176V;ENSP00000333751:A176V	ENSP00000333751:A176V	A	-	2	0	PLCXD3	41417970	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.399000	0.73248	2.736000	0.93811	0.655000	0.94253	GCC		0.448	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		6	364	0	0	0	1	0	6	364				
ADAM29	11086	broad.mit.edu	37	4	175898106	175898106	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr4:175898106A>G	ENST00000359240.3	+	5	2100	c.1430A>G	c.(1429-1431)gAt>gGt	p.D477G	ADAM29_ENST00000514159.1_Missense_Mutation_p.D477G|ADAM29_ENST00000445694.1_Missense_Mutation_p.D477G|ADAM29_ENST00000404450.4_Missense_Mutation_p.D477G|RP13-577H12.2_ENST00000507525.1_RNA	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	477	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D477G(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AAGTGCCCAGATGACTTTTAT	0.448																																					Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			2	Substitution - Missense(2)	p.D477G(2)	prostate(2)	NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(1429-1431)gAt>gGt		ADAM metallopeptidase domain 29							106.0	101.0	103.0					4																	175898106		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175898106A>G	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1430A>G	4.37:g.175898106A>G	ENSP00000352177:p.Asp477Gly					ADAM29_ENST00000445694.1_Missense_Mutation_p.D477G|ADAM29_ENST00000514159.1_Missense_Mutation_p.D477G|ADAM29_ENST00000404450.4_Missense_Mutation_p.D477G	p.D477G	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	2100	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	477			Disintegrin.		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.1430A>G	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	A	10.57	1.387930	0.25031	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.11495	2.77;2.77;2.77;2.77	3.69	2.47	0.30058	Blood coagulation inhibitor, Disintegrin (6);	1.067860	0.07519	U	0.910165	T	0.12689	0.0308	N	0.21373	0.66	0.09310	N	1	D	0.55172	0.97	P	0.54924	0.764	T	0.27502	-1.0072	9	.	.	.	.	4.3789	0.11284	0.5886:0.2094:0.0:0.202	.	477	Q9UKF5	ADA29_HUMAN	G	477	ENSP00000352177:D477G;ENSP00000414544:D477G;ENSP00000384229:D477G;ENSP00000423517:D477G	.	D	+	2	0	ADAM29	176134681	0.001000	0.12720	0.029000	0.17559	0.274000	0.26718	0.940000	0.28992	0.738000	0.32606	0.523000	0.50628	GAT		0.448	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				40	159	0	0	0	1	0	40	159				
TMEM205	374882	broad.mit.edu	37	19	11453676	11453676	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr19:11453676C>A	ENST00000354882.5	-	3	811	c.385G>T	c.(385-387)Gag>Tag	p.E129*	TMEM205_ENST00000589555.1_Nonsense_Mutation_p.E129*|TMEM205_ENST00000586956.1_Nonsense_Mutation_p.E129*|TMEM205_ENST00000587948.1_Nonsense_Mutation_p.E129*|TMEM205_ENST00000593256.2_Nonsense_Mutation_p.E129*|TMEM205_ENST00000586590.1_Nonsense_Mutation_p.E129*|TMEM205_ENST00000586218.1_Nonsense_Mutation_p.E68*|TMEM205_ENST00000447337.1_Nonsense_Mutation_p.E129*|TMEM205_ENST00000588560.1_Nonsense_Mutation_p.E129*|RAB3D_ENST00000589655.1_Intron|CCDC159_ENST00000588790.1_5'Flank			Q6UW68	TM205_HUMAN	transmembrane protein 205	129						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						CCTGGTACCTCCCCACCCAGG	0.647																																						ENST00000354882.5																			0				endometrium(1)|lung(1)	2						c.(385-387)Gag>Tag		transmembrane protein 205							77.0	71.0	73.0					19																	11453676		2203	4300	6503	SO:0001587	stop_gained	374882					integral to membrane		g.chr19:11453676C>A	AK127147	CCDS32909.1	19p13.2	2008-01-09				ENSG00000105518			29631	protein-coding gene	gene with protein product		613771				12975309	Standard	NM_198536		Approved	UNQ501, MBC3205	uc002mrb.2	Q6UW68		ENST00000354882.5:c.385G>T	19.37:g.11453676C>A	ENSP00000346954:p.Glu129*					TMEM205_ENST00000586218.1_Nonsense_Mutation_p.E68*|TMEM205_ENST00000593256.2_Nonsense_Mutation_p.E129*|TMEM205_ENST00000588560.1_Nonsense_Mutation_p.E129*|TMEM205_ENST00000586956.1_Nonsense_Mutation_p.E129*|TMEM205_ENST00000447337.1_Nonsense_Mutation_p.E129*|TMEM205_ENST00000587948.1_Nonsense_Mutation_p.E129*|TMEM205_ENST00000586590.1_Nonsense_Mutation_p.E129*|TMEM205_ENST00000589555.1_Nonsense_Mutation_p.E129*|RAB3D_ENST00000589655.1_Intron	p.E129*			Q6UW68	TM205_HUMAN			3	811	-			129						Nonsense_Mutation	SNP	ENST00000354882.5	37	c.385G>T	CCDS32909.1	.	.	.	.	.	.	.	.	.	.	C	30	5.057896	0.93846	.	.	ENSG00000105518	ENST00000354882;ENST00000447337	.	.	.	5.13	4.1	0.47936	.	0.147062	0.44902	U	0.000402	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-19.3641	12.8412	0.57805	0.0:0.9195:0.0:0.0805	.	.	.	.	X	129	.	ENSP00000346954:E129X	E	-	1	0	TMEM205	11314676	0.982000	0.34865	0.995000	0.50966	0.434000	0.31775	2.330000	0.43885	1.301000	0.44836	-0.136000	0.14681	GAG		0.647	TMEM205-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458743.1	NM_198536		4	135	1	0	0.150653	1	0.164777	4	135				
ZNF43	7594	broad.mit.edu	37	19	22001955	22001955	+	Silent	SNP	T	T	G			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr19:22001955T>G	ENST00000354959.4	-	2	241	c.72A>C	c.(70-72)gcA>gcC	p.A24A	ZNF43_ENST00000595461.1_Silent_p.A18A|ZNF43_ENST00000598381.1_Silent_p.A18A|ZNF43_ENST00000594012.1_Silent_p.A18A|ZNF43_ENST00000598288.1_Silent_p.A18A	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	24	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A24A(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		AATTCTGCTGTGCAATGTCCA	0.398																																						ENST00000594012.1																			1	Substitution - coding silent(1)	p.A24A(1)	prostate(1)	autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51						c.(52-54)gcA>gcC		zinc finger protein 43							121.0	127.0	125.0					19																	22001955		2203	4300	6503	SO:0001819	synonymous_variant	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22001955T>G	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.72A>C	19.37:g.22001955T>G						ZNF43_ENST00000354959.4_Silent_p.A24A|ZNF43_ENST00000595461.1_Silent_p.A18A|ZNF43_ENST00000598288.1_Silent_p.A18A|ZNF43_ENST00000598381.1_Silent_p.A18A	p.A18A	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	5	568	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	24			KRAB.		A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Silent	SNP	ENST00000354959.4	37	c.54A>C	CCDS12413.2																																																																																				0.398	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		74	236	0	0	0	1	0	74	236				
HECTD4	283450	broad.mit.edu	37	12	112717041	112717041	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr12:112717041A>G	ENST00000430131.2	-	9	1641	c.496T>C	c.(496-498)Tct>Cct	p.S166P	HECTD4_ENST00000550722.1_Missense_Mutation_p.S416P|HECTD4_ENST00000377560.5_Missense_Mutation_p.S416P			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	166					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.S416P(1)|p.S166P(1)									CTTTTTAAAGATGACAAACCA	0.398																																						ENST00000550722.1																			2	Substitution - Missense(2)	p.S416P(1)|p.S166P(1)	prostate(2)								c.(1246-1248)Tct>Cct		HECT domain containing E3 ubiquitin protein ligase 4							72.0	71.0	71.0					12																	112717041		1846	4085	5931	SO:0001583	missense	283450							g.chr12:112717041A>G	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.496T>C	12.37:g.112717041A>G	ENSP00000404379:p.Ser166Pro					HECTD4_ENST00000430131.2_Missense_Mutation_p.S166P|HECTD4_ENST00000377560.5_Missense_Mutation_p.S416P	p.S416P	NM_001109662.3	NP_001103132.3					9	1641	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.1246T>C		.	.	.	.	.	.	.	.	.	.	A	19.50	3.840147	0.71488	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.52295	0.73;0.72;0.67	5.54	5.54	0.83059	.	.	.	.	.	T	0.51805	0.1696	N	0.14661	0.345	0.48632	D	0.999686	D	0.54601	0.967	D	0.65874	0.939	T	0.60094	-0.7330	9	0.87932	D	0	.	15.6803	0.77364	1.0:0.0:0.0:0.0	.	166	Q9Y4D8	K0614_HUMAN	P	416;166;416	ENSP00000366783:S416P;ENSP00000404379:S166P;ENSP00000449784:S416P	ENSP00000366783:S416P	S	-	1	0	C12orf51	111201424	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	8.879000	0.92398	2.115000	0.64714	0.482000	0.46254	TCT		0.398	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		25	92	0	0	0	1	0	25	92				
PAPLN	89932	broad.mit.edu	37	14	73719443	73719443	+	Missense_Mutation	SNP	C	C	T	rs200690849		TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr14:73719443C>T	ENST00000554301.1	+	10	1217	c.1054C>T	c.(1054-1056)Cgg>Tgg	p.R352W	PAPLN_ENST00000340738.5_Missense_Mutation_p.R325W|PAPLN_ENST00000427855.1_Missense_Mutation_p.R352W|PAPLN_ENST00000381166.3_Missense_Mutation_p.R352W|PAPLN_ENST00000555445.1_Missense_Mutation_p.R352W			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	352	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)	p.R352W(1)|p.R325W(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GCCAGCTGACCGGCGTTCCTG	0.642																																						ENST00000427855.1																			2	Substitution - Missense(2)	p.R352W(1)|p.R325W(1)	prostate(2)	NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42						c.(1054-1056)Cgg>Tgg		papilin, proteoglycan-like sulfated glycoprotein							81.0	82.0	82.0					14																	73719443		2203	4300	6503	SO:0001583	missense	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73719443C>T	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.1054C>T	14.37:g.73719443C>T	ENSP00000451803:p.Arg352Trp					PAPLN_ENST00000381166.3_Missense_Mutation_p.R352W|PAPLN_ENST00000555445.1_Missense_Mutation_p.R352W|PAPLN_ENST00000554301.1_Missense_Mutation_p.R352W|PAPLN_ENST00000340738.5_Missense_Mutation_p.R325W	p.R352W			O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	11	1156	+			352			TSP type-1 2.		B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	ENST00000554301.1	37	c.1054C>T		.	.	.	.	.	.	.	.	.	.	C	15.60	2.881321	0.51801	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000554301;ENST00000555445	T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11	5.22	2.1	0.27182	.	.	.	.	.	T	0.68732	0.3033	M	0.69463	2.115	0.33241	D	0.557202	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.68765	0.932;0.96;0.951	T	0.74569	-0.3622	9	0.72032	D	0.01	.	7.9987	0.30284	0.5444:0.3405:0.1152:0.0	.	352;352;325	O95428-5;O95428;O95428-6	.;PPN_HUMAN;.	W	325;352;352;352;352	ENSP00000345395:R325W;ENSP00000403403:R352W;ENSP00000370558:R352W;ENSP00000451803:R352W;ENSP00000451729:R352W	ENSP00000216658:R352W	R	+	1	2	PAPLN	72789196	1.000000	0.71417	0.016000	0.15963	0.150000	0.21749	4.648000	0.61425	1.149000	0.42402	0.462000	0.41574	CGG		0.642	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		39	125	0	0	0	1	0	39	125				
IGHG1	3500	broad.mit.edu	37	14	106208714	106208714	+	RNA	SNP	A	A	T			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr14:106208714A>T	ENST00000390548.2	-	0	303							P01857	IGHG1_HUMAN	immunoglobulin heavy constant gamma 1 (G1m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										TTGTCACAAGATTTGGGCTCT	0.582																																						ENST00000390548.2																			0																				169.0	166.0	167.0					14																	106208714		1978	4148	6126			0							g.chr14:106208714A>T	J00228		14q32.33	2012-10-02			ENSG00000211896	ENSG00000211896		"""Immunoglobulins / IGH locus"""	5525	other	immunoglobulin gene		147100					Standard	NG_001019		Approved		uc001yse.3	P01857	OTTHUMG00000152495		14.37:g.106208714A>T														0	303	-									RNA	SNP	ENST00000390548.2	37																																																																																						0.582	IGHG1-002	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	IG_C_gene	IG_C_gene	OTTHUMT00000326504.1	NG_001019		6	245	0	0	0	1	0	6	245				
CEACAM3	1084	broad.mit.edu	37	19	42301582	42301582	+	Silent	SNP	G	G	A			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr19:42301582G>A	ENST00000357396.3	+	2	367	c.126G>A	c.(124-126)ccG>ccA	p.P42P	CEACAM3_ENST00000344550.4_Silent_p.P42P|CEACAM3_ENST00000221999.4_Silent_p.P42P|CEACAM3_ENST00000595255.1_3'UTR	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	42	Ig-like V-type.					integral component of membrane (GO:0016021)		p.P42P(1)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						AATCCATGCCGCTCAGTGTCG	0.522																																						ENST00000357396.3																			1	Substitution - coding silent(1)	p.P42P(1)	prostate(1)	endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						c.(124-126)ccG>ccA		carcinoembryonic antigen-related cell adhesion molecule 3							157.0	146.0	150.0					19																	42301582		2203	4300	6503	SO:0001819	synonymous_variant	1084					integral to membrane		g.chr19:42301582G>A	E03349	CCDS12586.2, CCDS62685.1	19q13.2	2013-01-11			ENSG00000170956	ENSG00000170956		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1815	protein-coding gene	gene with protein product		609142		CGM1			Standard	NM_001815		Approved	CD66d	uc002orn.2	P40198	OTTHUMG00000150142	ENST00000357396.3:c.126G>A	19.37:g.42301582G>A						CEACAM3_ENST00000344550.4_Silent_p.P42P|CEACAM3_ENST00000221999.4_Silent_p.P42P|CEACAM3_ENST00000595255.1_3'UTR	p.P42P	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN			2	367	+			42			Ig-like V-type.		G5E978|Q3KPH9	Silent	SNP	ENST00000357396.3	37	c.126G>A	CCDS12586.2																																																																																				0.522	CEACAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316509.2	NM_001815		62	174	0	0	0	1	0	62	174				
SNTG2	54221	broad.mit.edu	37	2	1133461	1133461	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr2:1133461G>A	ENST00000308624.5	+	6	506	c.377G>A	c.(376-378)gGc>gAc	p.G126D	SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	126	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)	p.G126D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CAGGTTAATGGCATACATGTA	0.269																																						ENST00000308624.5																			1	Substitution - Missense(1)	p.G126D(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(376-378)gGc>gAc		syntrophin, gamma 2							174.0	165.0	168.0					2																	1133461		1840	4100	5940	SO:0001583	missense	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1133461G>A	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.377G>A	2.37:g.1133461G>A	ENSP00000311837:p.Gly126Asp					SNTG2_ENST00000407292.1_Intron	p.G126D	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	6	506	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	126			PDZ.		Q05AH5	Missense_Mutation	SNP	ENST00000308624.5	37	c.377G>A	CCDS46220.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763376	0.69763	.	.	ENSG00000172554	ENST00000308624	T	0.41400	1.0	4.69	4.69	0.59074	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.61035	0.2315	M	0.64080	1.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63088	-0.6715	10	0.52906	T	0.07	.	14.552	0.68073	0.0:0.0:1.0:0.0	.	126	Q9NY99	SNTG2_HUMAN	D	126	ENSP00000311837:G126D	ENSP00000311837:G126D	G	+	2	0	SNTG2	1123461	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.176000	0.65026	2.144000	0.66660	0.460000	0.39030	GGC		0.269	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968		19	157	0	0	0	1	0	19	157				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						ENST00000302558.3																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(5278-5280)Cct>Gct		RANBP2-like and GRIP domain containing 8							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	727851							g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	p.P1760A	NM_001164463.1	NP_001157935.1					23	5469	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		4	168	0	0	0	1	0	4	168				
LILRA1	11024	broad.mit.edu	37	19	55106788	55106788	+	Silent	SNP	G	G	A	rs112681015	byFrequency	TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr19:55106788G>A	ENST00000251372.3	+	5	764	c.582G>A	c.(580-582)tcG>tcA	p.S194S	LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000453777.1_Silent_p.S194S|LILRB1_ENST00000396321.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	194	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)	p.S194S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GCAGGTGGTCGTACAGGTGCT	0.572																																						ENST00000453777.1																			1	Substitution - coding silent(1)	p.S194S(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47						c.(580-582)tcG>tcA		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1		G		4,4402	8.1+/-20.4	0,4,2199	161.0	164.0	163.0		582	-4.5	0.0	19	dbSNP_132	163	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	LILRA1	NM_006863.1		0,6,6497	AA,AG,GG		0.0233,0.0908,0.0461		194/490	55106788	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55106788G>A	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.582G>A	19.37:g.55106788G>A						LILRA1_ENST00000251372.3_Silent_p.S194S|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron	p.S194S	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	5	752	+			194			Ig-like C2-type 2.		O75018|Q3MJA6	Silent	SNP	ENST00000251372.3	37	c.582G>A	CCDS12901.1																																																																																				0.572	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		52	186	0	0	0	1	0	52	186				
FRMPD2	143162	broad.mit.edu	37	10	49457141	49457141	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr10:49457141G>T	ENST00000374201.3	-	3	534	c.232C>A	c.(232-234)Cat>Aat	p.H78N	FRMPD2_ENST00000305531.3_Missense_Mutation_p.H76N|FRMPD2_ENST00000407470.4_Missense_Mutation_p.H69N	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	78	KIND. {ECO:0000255|PROSITE- ProRule:PRU00709}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)	p.H78N(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GCCTCTATATGAGAAACACGG	0.532																																						ENST00000374201.3																			1	Substitution - Missense(1)	p.H78N(1)	prostate(1)	NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66						c.(232-234)Cat>Aat		FERM and PDZ domain containing 2							49.0	47.0	48.0					10																	49457141		2203	4300	6503	SO:0001583	missense	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49457141G>T	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.232C>A	10.37:g.49457141G>T	ENSP00000363317:p.His78Asn					FRMPD2_ENST00000305531.3_Missense_Mutation_p.H76N|FRMPD2_ENST00000407470.4_Missense_Mutation_p.H69N	p.H78N	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	3	534	-			78			KIND.		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	c.232C>A	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	G	7.459	0.644324	0.14451	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.28255	1.62;1.62;1.62	5.47	4.37	0.52481	KIND (2);	.	.	.	.	T	0.31979	0.0814	L	0.43757	1.38	0.09310	N	1	P;P;P	0.49961	0.867;0.93;0.867	P;B;B	0.47251	0.542;0.186;0.359	T	0.10823	-1.0613	9	0.49607	T	0.09	.	10.0391	0.42146	0.1063:0.0:0.8937:0.0	.	76;78;69	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	N	78;76;69	ENSP00000363317:H78N;ENSP00000307079:H76N;ENSP00000384339:H69N	ENSP00000307079:H76N	H	-	1	0	FRMPD2	49127147	0.820000	0.29190	0.347000	0.25668	0.504000	0.33889	1.929000	0.40114	2.593000	0.87608	0.655000	0.94253	CAT		0.532	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		17	45	1	0	1.64113e-05	1	1.94711e-05	17	45				
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs2684618	byFrequency	TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr17:43587576A>G	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		tctgaaaagaaaagaaaaaaa	0.428													A|||	308	0.0615016	0.0204	0.0548	5008	,	,		16882	0.0685		0.1113	False		,,,				2504	0.0634					ENST00000253803.2																			0																																																			0							g.chr17:43587576A>G	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587576A>G						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.428	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	84	0	0	0	1	0	3	84				
CSF2RA	1438	broad.mit.edu	37	X	1407464	1407464	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chrX:1407464G>T	ENST00000381524.3	+	5	458	c.272G>T	c.(271-273)gGa>gTa	p.G91V	CSF2RA_ENST00000417535.2_Missense_Mutation_p.G91V|CSF2RA_ENST00000432318.2_Missense_Mutation_p.G91V|CSF2RA_ENST00000381529.3_Missense_Mutation_p.G91V|CSF2RA_ENST00000381509.3_Missense_Mutation_p.G91V|CSF2RA_ENST00000355805.2_Missense_Mutation_p.G91V|CSF2RA_ENST00000361536.3_Missense_Mutation_p.G91V|CSF2RA_ENST00000355432.3_Missense_Mutation_p.G91V|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000381500.1_Missense_Mutation_p.G91V			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	91					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.G91V(2)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CTGCATGAAGGAGTCACATTT	0.418																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	ENST00000381524.3																			2	Substitution - Missense(2)	p.G91V(2)	prostate(2)	central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45						c.(271-273)gGa>gTa		colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						370.0	341.0	351.0					X																	1407464		2203	4296	6499	SO:0001583	missense	0					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1407464G>T	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.272G>T	X.37:g.1407464G>T	ENSP00000370935:p.Gly91Val					CSF2RA_ENST00000432318.2_Missense_Mutation_p.G91V|CSF2RA_ENST00000361536.3_Missense_Mutation_p.G91V|CSF2RA_ENST00000417535.2_Missense_Mutation_p.G91V|CSF2RA_ENST00000355805.2_Missense_Mutation_p.G91V|CSF2RA_ENST00000355432.3_Missense_Mutation_p.G91V|CSF2RA_ENST00000381500.1_Missense_Mutation_p.G91V|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000381529.3_Missense_Mutation_p.G91V|CSF2RA_ENST00000381509.3_Missense_Mutation_p.G91V	p.G91V			P15509	CSF2R_HUMAN			5	458	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	91					A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	c.272G>T	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	10.80	1.452332	0.26074	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000381507;ENST00000381524;ENST00000412290;ENST00000419094;ENST00000381509;ENST00000355805;ENST00000355432;ENST00000417535;ENST00000381500	D;D;D;D;T;T;D;T;T;D;D	0.94457	-3.15;-3.15;-3.43;-3.15;0.87;1.81;-3.17;0.8;1.12;-3.0;-3.43	1.47	1.47	0.22746	.	0.163612	0.24676	U	0.036512	D	0.95274	0.8467	.	.	.	0.19575	N	0.999963	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.997;0.998;0.985;0.997;0.995	D	0.87460	0.2407	9	0.36615	T	0.2	.	6.16	0.20358	0.0:0.0:1.0:0.0	.	91;91;91;91;91;91	P15509-2;A7J003;P15509-3;P15509-6;P15509-5;P15509	.;.;.;.;.;CSF2R_HUMAN	V	91	ENSP00000370940:G91V;ENSP00000416437:G91V;ENSP00000354836:G91V;ENSP00000370935:G91V;ENSP00000410667:G91V;ENSP00000397452:G91V;ENSP00000370920:G91V;ENSP00000348058:G91V;ENSP00000347606:G91V;ENSP00000394227:G91V;ENSP00000370911:G91V	ENSP00000347606:G91V	G	+	2	0	CSF2RA	1367464	0.022000	0.18835	0.020000	0.16555	0.008000	0.06430	1.488000	0.35551	0.765000	0.33221	0.358000	0.22013	GGA		0.418	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			146	521	1	0	3.67666e-70	1	4.59582e-70	146	521				
ITGAL	3683	broad.mit.edu	37	16	30495266	30495266	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr16:30495266C>T	ENST00000356798.6	+	8	1021	c.841C>T	c.(841-843)Cgc>Tgc	p.R281C	ITGAL_ENST00000454514.2_3'UTR|RNU7-61P_ENST00000515897.1_RNA|RP11-297C4.2_ENST00000569459.1_RNA|RP11-297C4.3_ENST00000562525.1_RNA|ITGAL_ENST00000358164.5_Missense_Mutation_p.R198C|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	281	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)	p.R281S(1)|p.R281C(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	AGACATCATCCGCTACATCAT	0.587																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			2	Substitution - Missense(2)	p.R281S(1)|p.R281C(1)	prostate(1)|lung(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(841-843)Cgc>Tgc		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)						183.0	159.0	167.0					16																	30495266		2197	4300	6497	SO:0001583	missense	0				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30495266C>T		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.841C>T	16.37:g.30495266C>T	ENSP00000349252:p.Arg281Cys					ITGAL_ENST00000358164.5_Missense_Mutation_p.R198C|ITGAL_ENST00000454514.2_3'UTR|ITGAL_ENST00000433423.2_Intron|RP11-297C4.2_ENST00000569459.1_RNA	p.R281C	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			8	1021	+			281			VWFA.		O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	c.841C>T	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.942421	0.92526	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	T;T	0.22539	1.95;1.95	5.97	5.97	0.96955	von Willebrand factor, type A (3);	0.000000	0.49916	D	0.000122	T	0.58104	0.2099	M	0.92077	3.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.66799	-0.5832	10	0.87932	D	0	.	17.3303	0.87261	0.0:1.0:0.0:0.0	.	198;281	Q96HB1;P20701	.;ITAL_HUMAN	C	281;198	ENSP00000349252:R281C;ENSP00000350886:R198C	ENSP00000349252:R281C	R	+	1	0	ITGAL	30402767	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.727000	0.61993	2.835000	0.97688	0.591000	0.81541	CGC		0.587	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			31	252	0	0	0	1	0	31	252				
TBC1D8B	54885	broad.mit.edu	37	X	106064139	106064139	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chrX:106064139G>T	ENST00000357242.5	+	3	448	c.274G>T	c.(274-276)Gat>Tat	p.D92Y	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.D92Y|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.D92Y|TBC1D8B_ENST00000481617.2_Missense_Mutation_p.D92Y	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	92							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.D92Y(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CAAGCATTGGGATTGGTTGGA	0.308																																						ENST00000357242.5																			1	Substitution - Missense(1)	p.D92Y(1)	prostate(1)	NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(274-276)Gat>Tat		TBC1 domain family, member 8B (with GRAM domain)							66.0	62.0	63.0					X																	106064139		2202	4299	6501	SO:0001583	missense	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106064139G>T	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.274G>T	X.37:g.106064139G>T	ENSP00000349781:p.Asp92Tyr					TBC1D8B_ENST00000481617.2_Missense_Mutation_p.D92Y|TBC1D8B_ENST00000276175.3_Missense_Mutation_p.D92Y|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.D92Y	p.D92Y	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN			3	448	+			92					B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	c.274G>T	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.565225	0.86439	.	.	ENSG00000133138	ENST00000357242;ENST00000310452;ENST00000481617;ENST00000276175	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.14	5.14	0.70334	.	0.204155	0.42821	D	0.000660	T	0.41858	0.1177	L	0.61218	1.895	0.80722	D	1	P;D;D	0.71674	0.834;0.983;0.998	P;P;P	0.61275	0.621;0.886;0.87	T	0.34675	-0.9819	10	0.87932	D	0	-4.2339	16.4042	0.83652	0.0:0.0:1.0:0.0	.	92;92;92	Q0IIM8;B9A6K6;D6RFZ2	TBC8B_HUMAN;.;.	Y	92	ENSP00000349781:D92Y;ENSP00000310675:D92Y;ENSP00000421375:D92Y;ENSP00000276175:D92Y	ENSP00000276175:D92Y	D	+	1	0	TBC1D8B	105950795	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	6.716000	0.74702	2.266000	0.75297	0.415000	0.27848	GAT		0.308	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		48	55	1	0	8.86878e-18	1	1.07037e-17	48	55				
DGCR14	8220	broad.mit.edu	37	22	19132152	19132152	+	Start_Codon_SNP	SNP	A	A	T			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr22:19132152A>T	ENST00000252137.6	-	1	45	c.2T>A	c.(1-3)aTg>aAg	p.M1K		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	1					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)		p.M1K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					CGGCGTCTCCATCGCTATCCC	0.682																																						ENST00000252137.6																			1	Substitution - Missense(1)	p.M1K(1)	prostate(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16						c.(1-3)aTg>aAg		DiGeorge syndrome critical region gene 14							8.0	9.0	9.0					22																	19132152		2185	4273	6458	SO:0001582	initiator_codon_variant	8220				nervous system development	catalytic step 2 spliceosome		g.chr22:19132152A>T	L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"""DiGeorge syndrome critical region gene 13"""	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.2T>A	22.37:g.19132152A>T	ENSP00000252137:p.Met1Lys						p.M1K	NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN			1	45	-	Colorectal(54;0.0993)		1					Q49AH7|Q9BTZ4	Translation_Start_Site	SNP	ENST00000252137.6	37	c.2T>A	CCDS13756.1	.	.	.	.	.	.	.	.	.	.	A	13.43	2.235758	0.39498	.	.	ENSG00000100056	ENST00000252137	T	0.22743	1.94	3.73	3.73	0.42828	.	0.451112	0.23463	N	0.047915	T	0.39332	0.1074	.	.	.	0.80722	D	1	P	0.50156	0.932	P	0.58520	0.84	T	0.32666	-0.9898	9	0.87932	D	0	-29.673	11.6691	0.51391	1.0:0.0:0.0:0.0	.	1	Q96DF8	DGC14_HUMAN	K	1	ENSP00000252137:M1K	ENSP00000252137:M1K	M	-	2	0	DGCR14	17512152	1.000000	0.71417	1.000000	0.80357	0.201000	0.24016	2.344000	0.44010	1.935000	0.56089	0.460000	0.39030	ATG		0.682	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316432.2		Missense_Mutation	3	9	0	0	0	1	0	3	9				
SCN2A	6326	broad.mit.edu	37	2	166165901	166165901	+	Silent	SNP	G	G	A	rs370724112	byFrequency	TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr2:166165901G>A	ENST00000375437.2	+	6	935	c.645G>A	c.(643-645)gcG>gcA	p.A215A	SCN2A_ENST00000283256.6_Silent_p.A215A|SCN2A_ENST00000357398.3_Intron|SCN2A_ENST00000375427.2_Intron	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	215					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.A215A(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGTCTCAGCGTTGAGAACAT	0.438													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18689	0.0		0.0	False		,,,				2504	0.0					ENST00000375437.2																			2	Substitution - coding silent(2)	p.A215A(2)	prostate(1)|lung(1)	NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(643-645)gcG>gcA		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						101.0	92.0	95.0					2																	166165901		2203	4299	6502	SO:0001819	synonymous_variant	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166165901G>A	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.645G>A	2.37:g.166165901G>A						SCN2A_ENST00000357398.3_Intron|SCN2A_ENST00000283256.6_Silent_p.A215A|SCN2A_ENST00000375427.2_Intron	p.A215A	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN			6	935	+			215					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	37	c.645G>A	CCDS33314.1																																																																																				0.438	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		7	114	0	0	0	1	0	7	114				
CFAP54	144535	broad.mit.edu	37	12	97093817	97093817	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr12:97093817delA	ENST00000524981.4	+	46	6443	c.6420delA	c.(6418-6420)ggafs	p.G2140fs				Q96N23	CL055_HUMAN		0																	TTTTCTATGGAAAAAACATGC	0.343																																						ENST00000524981.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.(1771-1773)ggfs									76.0	83.0	81.0					12																	97093817		2203	4299	6502	SO:0001589	frameshift_variant	0							g.chr12:97093817delA																												ENST00000524981.4:c.6420delA	12.37:g.97093817delA	ENSP00000431759:p.Gly2140fs						p.G591fs			Q6ZTY8	CL063_HUMAN			13	1773	+			565						Frame_Shift_Del	DEL	ENST00000524981.4	37	c.1773delA																																																																																					0.343	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			56	247						56	247	---	---	---	---
TRIM37	4591	broad.mit.edu	37	17	57128666	57128666	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr17:57128666delA	ENST00000262294.7	-	14	1482	c.1223delT	c.(1222-1224)ttcfs	p.F409fs	TRIM37_ENST00000393065.2_Frame_Shift_Del_p.F375fs|TRIM37_ENST00000393066.3_Frame_Shift_Del_p.F409fs|TRIM37_ENST00000376149.3_Frame_Shift_Del_p.F287fs	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	409					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTTTTGAAAGAAAGTTGGTGA	0.338									Mulibrey Nanism																													ENST00000376149.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(856-858)tcfs		tripartite motif containing 37							99.0	98.0	98.0					17																	57128666		2203	4300	6503	SO:0001589	frameshift_variant	4591	Mulibrey Nanism	Familial Cancer Database	Perheentupa syndrome		perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	g.chr17:57128666delA	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.1223delT	17.37:g.57128666delA	ENSP00000262294:p.Phe409fs					TRIM37_ENST00000393065.2_Frame_Shift_Del_p.F375fs|TRIM37_ENST00000393066.3_Frame_Shift_Del_p.F409fs|TRIM37_ENST00000262294.7_Frame_Shift_Del_p.F409fs	p.F287fs			O94972	TRI37_HUMAN			14	1666	-	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		409			MATH.		Q7Z3E6|Q8IYF7|Q8WYF7	Frame_Shift_Del	DEL	ENST00000262294.7	37	c.857delT	CCDS32694.1																																																																																				0.338	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294		32	127						32	127	---	---	---	---
JUNB	3726	broad.mit.edu	37	19	12903424	12903425	+	Frame_Shift_Ins	INS	-	-	G	rs374802914		TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr19:12903424_12903425insG	ENST00000302754.4	+	1	1115_1116	c.839_840insG	c.(838-843)ctggcgfs	p.A281fs		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	281	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|decidualization (GO:0046697)|embryonic process involved in female pregnancy (GO:0060136)|gene expression (GO:0010467)|labyrinthine layer blood vessel development (GO:0060716)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|osteoclast differentiation (GO:0030316)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						CGGAACCGGCTGGCGGCCACCA	0.688																																						ENST00000302754.4																			0				central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						c.(838-840)cgcfs		jun B proto-oncogene				228,3474		29,170,1652						3.7	1.0			6	388,6938		46,296,3321	no	frameshift	JUNB	NM_002229.2		75,466,4973	A1A1,A1R,RR		5.2962,6.1588,5.5858				616,10412				SO:0001589	frameshift_variant	3726					chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity	g.chr19:12903424_12903425insG	M29039	CCDS12280.1	19p13.13	2013-01-10				ENSG00000171223		"""basic leucine zipper proteins"""	6205	protein-coding gene	gene with protein product		165161				2513129	Standard	NM_002229		Approved		uc002mvc.3	P17275		ENST00000302754.4:c.841dupG	19.37:g.12903426_12903426dupG	ENSP00000303315:p.Ala281fs						p.R280fs	NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN			1	1115_1116	+			280					Q96GH3	Frame_Shift_Ins	INS	ENST00000302754.4	37	c.839_840insG	CCDS12280.1																																																																																				0.688	JUNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451015.1	NM_002229		3	4						3	4	---	---	---	---
