#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
PICALM	8301	broad.mit.edu	37	11	85779727	85779727	+	Silent	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:85779727G>A	ENST00000393346.3	-	1	244	c.96C>T	c.(94-96)caC>caT	p.H32H	PICALM_ENST00000528398.1_Intron|PICALM_ENST00000356360.5_Silent_p.H32H|PICALM_ENST00000532317.1_Silent_p.H32H|PICALM_ENST00000526033.1_Silent_p.H32H|PICALM_ENST00000528411.1_5'UTR			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	32	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				CCATGATCTCGTGGGTCGTGG	0.662			T	"""MLLT10, MLL"""	"""TALL, AML, """																																	ENST00000526033.1				Dom	yes		11	11q14	8301	T	phosphatidylinositol binding clathrin assembly protein (CALM)			L	"""MLLT10, MLL"""		"""TALL, AML, """		0				endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(94-96)caC>caT		phosphatidylinositol binding clathrin assembly protein							93.0	82.0	86.0					11																	85779727		2203	4299	6502	SO:0001819	synonymous_variant	8301				clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding	g.chr11:85779727G>A	BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.96C>T	11.37:g.85779727G>A						PICALM_ENST00000356360.5_Silent_p.H32H|PICALM_ENST00000528398.1_Intron|PICALM_ENST00000393346.3_Silent_p.H32H|PICALM_ENST00000532317.1_Silent_p.H32H|PICALM_ENST00000528411.1_5'UTR	p.H32H	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN			1	412	-		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)	32			ENTH.		B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Silent	SNP	ENST00000393346.3	37	c.96C>T	CCDS8272.1																																																																																				0.662	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392224.1	NM_007166		3	22	0	0	0	0.115264	0	3	22				
CSMD2	114784	broad.mit.edu	37	1	34049245	34049245	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:34049245C>G	ENST00000373381.4	-	47	7413	c.7237G>C	c.(7237-7239)Gat>Cat	p.D2413H		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2415	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D2415fs*1(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)				GACTTACCATCAAAAATCTCA	0.493																																						ENST00000373381.4																			1	Insertion - Frameshift(1)	p.D2415fs*1(1)	large_intestine(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.(7237-7239)Gat>Cat		CUB and Sushi multiple domains 2							157.0	156.0	156.0					1																	34049245		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34049245C>G	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.7237G>C	1.37:g.34049245C>G	ENSP00000362479:p.Asp2413His						p.D2413H	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			47	7413	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2415			CUB 14.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.7237G>C		.	.	.	.	.	.	.	.	.	.	C	22.4	4.282875	0.80692	.	.	ENSG00000121904	ENST00000373381	T	0.48201	0.82	5.54	5.54	0.83059	CUB (5);	0.053764	0.64402	D	0.000001	T	0.80259	0.4590	H	0.96889	3.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86234	0.1639	10	0.59425	D	0.04	.	18.4649	0.90751	0.0:1.0:0.0:0.0	.	2415;2413	Q7Z408;E7EUA6	CSMD2_HUMAN;.	H	2413	ENSP00000362479:D2413H	ENSP00000241312:D2415H	D	-	1	0	CSMD2	33821832	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.962000	0.70364	2.623000	0.88846	0.561000	0.74099	GAT		0.493	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		20	98	0	0	0	0.069288	0	20	98				
ZNF208	7757	broad.mit.edu	37	19	22156351	22156351	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:22156351T>G	ENST00000397126.4	-	4	1633	c.1485A>C	c.(1483-1485)aaA>aaC	p.K495N	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	495					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATTTGTAGGGTTTCTCTCCAG	0.373																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(1483-1485)aaA>aaC		zinc finger protein 208							25.0	24.0	24.0					19																	22156351		692	1591	2283	SO:0001583	missense	7757							g.chr19:22156351T>G	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1485A>C	19.37:g.22156351T>G	ENSP00000380315:p.Lys495Asn					ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	p.K495N	NM_007153.3	NP_009084.2					4	1633	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.1485A>C	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	T	9.695	1.152870	0.21371	.	.	ENSG00000160321	ENST00000397126;ENST00000400646	T	0.35973	1.28	2.08	-2.17	0.07059	.	.	.	.	.	T	0.34716	0.0907	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.41770	-0.9490	6	0.62326	D	0.03	.	8.2217	0.31545	0.0:0.6785:0.0:0.3215	.	.	.	.	N	495;21	ENSP00000380315:K495N	ENSP00000380315:K495N	K	-	3	2	ZNF208	21948191	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	-0.108000	0.10857	-0.574000	0.05990	0.254000	0.18369	AAA		0.373	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		8	25	0	0	0	0.038147	0	8	25				
MYBPC1	4604	broad.mit.edu	37	12	102025384	102025384	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr12:102025384G>A	ENST00000550270.1	+	5	250	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K	MYBPC1_ENST00000541119.1_Missense_Mutation_p.E72K|MYBPC1_ENST00000551300.1_5'UTR|MYBPC1_ENST00000452455.2_Missense_Mutation_p.E84K|MYBPC1_ENST00000549145.1_Missense_Mutation_p.E97K|MYBPC1_ENST00000441232.1_Missense_Mutation_p.E84K|MYBPC1_ENST00000545503.2_Missense_Mutation_p.E84K|MYBPC1_ENST00000360610.2_Missense_Mutation_p.E84K|MYBPC1_ENST00000361685.2_Missense_Mutation_p.E109K|MYBPC1_ENST00000536007.1_Missense_Mutation_p.E84K|MYBPC1_ENST00000547405.1_Missense_Mutation_p.E58K|MYBPC1_ENST00000361466.2_Missense_Mutation_p.E109K|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000553190.1_Missense_Mutation_p.E84K|MYBPC1_ENST00000392934.3_Missense_Mutation_p.E71K|MYBPC1_ENST00000547509.1_Missense_Mutation_p.E70K			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	84	Ig-like C2-type 1.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						AGTCAAGGCTGAAGATCTTCT	0.438																																						ENST00000549145.1																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						c.(289-291)Gaa>Aaa		myosin binding protein C, slow type							86.0	87.0	87.0					12																	102025384		2203	4300	6503	SO:0001583	missense	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102025384G>A		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.250G>A	12.37:g.102025384G>A	ENSP00000449702:p.Glu84Lys					MYBPC1_ENST00000547405.1_Missense_Mutation_p.E58K|MYBPC1_ENST00000361685.2_Missense_Mutation_p.E109K|MYBPC1_ENST00000361466.2_Missense_Mutation_p.E109K|MYBPC1_ENST00000360610.2_Missense_Mutation_p.E84K|MYBPC1_ENST00000553190.1_Missense_Mutation_p.E84K|MYBPC1_ENST00000541119.1_Missense_Mutation_p.E72K|MYBPC1_ENST00000545503.2_Missense_Mutation_p.E84K|MYBPC1_ENST00000536007.1_Missense_Mutation_p.E84K|MYBPC1_ENST00000452455.2_Missense_Mutation_p.E84K|MYBPC1_ENST00000441232.1_Missense_Mutation_p.E84K|MYBPC1_ENST00000392934.3_Missense_Mutation_p.E71K|MYBPC1_ENST00000551300.1_5'UTR|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Missense_Mutation_p.E84K|MYBPC1_ENST00000547509.1_Missense_Mutation_p.E70K	p.E97K			Q00872	MYPC1_HUMAN			6	389	+			84	KWFKG -> NGSR (in Ref. 1; CAA46987).		Ig-like C2-type 1.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	c.289G>A	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	G	8.746	0.920034	0.17982	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	5.93	4.94	0.65067	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.128316	0.35040	N	0.003488	T	0.27205	0.0667	N	0.00771	-1.2	0.41546	D	0.988547	B;B;B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B	0.10450	0.003;0.003;0.005;0.003;0.004;0.003;0.002;0.004;0.001;0.002;0.003	T	0.42310	-0.9459	10	0.10111	T	0.7	.	3.1571	0.06508	0.2135:0.274:0.5125:0.0	.	84;72;84;84;71;58;84;84;109;109;97	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2;F8VZY0	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.;.	K	58;84;84;84;71;70;109;97;84;109;84;84;72;109;84	ENSP00000448175:E58K;ENSP00000400908:E84K;ENSP00000388989:E84K;ENSP00000353822:E84K;ENSP00000376665:E71K;ENSP00000447362:E70K;ENSP00000354845:E109K;ENSP00000447660:E97K;ENSP00000447900:E84K;ENSP00000440034:E84K;ENSP00000446128:E84K;ENSP00000442847:E72K;ENSP00000354849:E109K;ENSP00000449702:E84K	ENSP00000353822:E84K	E	+	1	0	MYBPC1	100549515	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.529000	0.60588	2.826000	0.97356	0.655000	0.94253	GAA		0.438	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			15	79	0	0	0	0.119110	0	15	79				
TRPM3	80036	broad.mit.edu	37	9	73225627	73225627	+	Missense_Mutation	SNP	C	C	G	rs370376246		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr9:73225627C>G	ENST00000377111.2	-	18	2772	c.2529G>C	c.(2527-2529)aaG>aaC	p.K843N	TRPM3_ENST00000377106.1_Missense_Mutation_p.K715N|TRPM3_ENST00000408909.2_Missense_Mutation_p.K702N|TRPM3_ENST00000358082.3_Missense_Mutation_p.K705N|TRPM3_ENST00000396280.5_Missense_Mutation_p.K692N|TRPM3_ENST00000357533.2_Missense_Mutation_p.K847N|TRPM3_ENST00000396285.1_Missense_Mutation_p.K690N|TRPM3_ENST00000423814.3_Missense_Mutation_p.K870N|TRPM3_ENST00000360823.2_Missense_Mutation_p.K705N|TRPM3_ENST00000396292.4_Missense_Mutation_p.K715N|TRPM3_ENST00000377110.3_Missense_Mutation_p.K843N|TRPM3_ENST00000377105.1_Missense_Mutation_p.K702N	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	868					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CTTCATCCTTCTTCCTGGAGG	0.473																																						ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(2527-2529)aaG>aaC		transient receptor potential cation channel, subfamily M, member 3							215.0	183.0	194.0					9																	73225627		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73225627C>G	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2529G>C	9.37:g.73225627C>G	ENSP00000366315:p.Lys843Asn					TRPM3_ENST00000396292.4_Missense_Mutation_p.K715N|TRPM3_ENST00000357533.2_Missense_Mutation_p.K847N|TRPM3_ENST00000360823.2_Missense_Mutation_p.K705N|TRPM3_ENST00000377106.1_Missense_Mutation_p.K715N|TRPM3_ENST00000423814.3_Missense_Mutation_p.K870N|TRPM3_ENST00000377105.1_Missense_Mutation_p.K702N|TRPM3_ENST00000358082.3_Missense_Mutation_p.K705N|TRPM3_ENST00000408909.2_Missense_Mutation_p.K702N|TRPM3_ENST00000396280.5_Missense_Mutation_p.K692N|TRPM3_ENST00000377111.2_Missense_Mutation_p.K843N|TRPM3_ENST00000396285.1_Missense_Mutation_p.K690N	p.K843N	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			18	2772	-			868					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.2529G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.15|14.15	2.449912|2.449912	0.43531|0.43531	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000396280|ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	.|T;T;T;T;T;T;T;T;T;T;T	.|0.65364	.|-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	6.17|6.17	4.35|4.35	0.52113|0.52113	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.71316|0.71316	0.3325|0.3325	L|L	0.55743|0.55743	1.74|1.74	0.41644|0.41644	D|D	0.989099|0.989099	.|B;B;D;B;B;D;B;P	.|0.71674	.|0.203;0.017;0.998;0.141;0.129;0.996;0.148;0.729	.|B;B;D;B;B;D;B;B	.|0.71656	.|0.099;0.021;0.974;0.046;0.027;0.916;0.039;0.315	T|T	0.70022|0.70022	-0.4986|-0.4986	5|10	.|0.42905	.|T	.|0.14	-29.9777|-29.9777	10.0431|10.0431	0.42171|0.42171	0.0:0.7975:0.0:0.2025|0.0:0.7975:0.0:0.2025	.|.	.|843;843;833;847;705;702;815;690	.|Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.|.;.;.;.;.;.;.;.	Q|N	692|843;843;715;705;702;847;702;690;715;705;870	.|ENSP00000366315:K843N;ENSP00000366314:K843N;ENSP00000366310:K715N;ENSP00000354066:K705N;ENSP00000366309:K702N;ENSP00000350140:K847N;ENSP00000386127:K702N;ENSP00000379581:K690N;ENSP00000379587:K715N;ENSP00000350791:K705N;ENSP00000389542:K870N	.|ENSP00000350140:K847N	E|K	-|-	1|3	0|2	TRPM3|TRPM3	72415447|72415447	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.659000|0.659000	0.24994|0.24994	0.944000|0.944000	0.37579|0.37579	0.655000|0.655000	0.94253|0.94253	GAA|AAG		0.473	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		12	94	0	0	0	0.105934	0	12	94				
MESDC1	59274	broad.mit.edu	37	15	81295306	81295306	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr15:81295306G>A	ENST00000267984.2	+	1	2012	c.694G>A	c.(694-696)Gtg>Atg	p.V232M		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	232										endometrium(1)|lung(2)	3						GCTGGCCTGCGTGCGCGAGGT	0.697																																						ENST00000267984.2																			0				endometrium(1)|lung(2)	3						c.(694-696)Gtg>Atg		mesoderm development candidate 1							15.0	16.0	16.0					15																	81295306		2184	4277	6461	SO:0001583	missense	59274							g.chr15:81295306G>A	AY007810	CCDS10316.1	15q13	2008-07-18			ENSG00000140406	ENSG00000140406			13519	protein-coding gene	gene with protein product		615466				11247670	Standard	NM_022566		Approved	MGC99595	uc002bfz.3	Q9H1K6	OTTHUMG00000144185	ENST00000267984.2:c.694G>A	15.37:g.81295306G>A	ENSP00000267984:p.Val232Met						p.V232M	NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN			1	2012	+			232						Missense_Mutation	SNP	ENST00000267984.2	37	c.694G>A	CCDS10316.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025728	0.75390	.	.	ENSG00000140406	ENST00000267984	T	0.09445	2.98	4.43	4.43	0.53597	.	0.000000	0.64402	D	0.000002	T	0.22399	0.0540	L	0.34521	1.04	0.58432	D	0.999992	D	0.76494	0.999	D	0.65323	0.934	T	0.02471	-1.1154	10	0.72032	D	0.01	-18.3589	17.3875	0.87421	0.0:0.0:1.0:0.0	.	232	Q9H1K6	MESD1_HUMAN	M	232	ENSP00000267984:V232M	ENSP00000267984:V232M	V	+	1	0	MESDC1	79082361	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.316000	0.79007	2.145000	0.66743	0.462000	0.41574	GTG		0.697	MESDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291390.1	NM_022566		4	16	0	0	0	0.014758	0	4	16				
FAM208B	54906	broad.mit.edu	37	10	5781788	5781788	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr10:5781788C>T	ENST00000328090.5	+	13	2280	c.1655C>T	c.(1654-1656)tCt>tTt	p.S552F	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	552																	ACACCAGTATCTGAGGCTAGA	0.403																																						ENST00000328090.5																			0											c.(1654-1656)tCt>tTt		family with sequence similarity 208, member B							109.0	100.0	103.0					10																	5781788		1882	4118	6000	SO:0001583	missense	54906							g.chr10:5781788C>T	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.1655C>T	10.37:g.5781788C>T	ENSP00000328426:p.Ser552Phe					RP11-336A10.2_ENST00000411512.2_RNA	p.S552F	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			13	2280	+			552					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.1655C>T	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	C	9.879	1.201042	0.22121	.	.	ENSG00000108021	ENST00000328090	T	0.47528	0.84	5.7	3.85	0.44370	.	0.894648	0.09716	N	0.765004	T	0.42944	0.1225	L	0.56769	1.78	0.09310	N	1	B	0.13594	0.008	B	0.14578	0.011	T	0.36237	-0.9756	10	0.17832	T	0.49	.	9.2214	0.37379	0.0:0.7428:0.1757:0.0815	.	552	Q5VWN6	F208B_HUMAN	F	552	ENSP00000328426:S552F	ENSP00000328426:S552F	S	+	2	0	C10orf18	5821794	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	0.725000	0.25970	0.751000	0.32900	0.491000	0.48974	TCT		0.403	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		29	78	0	0	0	0.125774	0	29	78				
PAK7	57144	broad.mit.edu	37	20	9547019	9547019	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr20:9547019G>A	ENST00000378429.3	-	6	1549	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*	PAK7_ENST00000378423.1_Nonsense_Mutation_p.R335*|PAK7_ENST00000353224.5_Nonsense_Mutation_p.R335*	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	335	Linker.		R -> P (in dbSNP:rs11700112). {ECO:0000269|PubMed:17344846}.		apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ATCTGTGCTCGATCGTAATCC	0.537																																						ENST00000378429.3																			0				NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81						c.(1003-1005)Cga>Tga		p21 protein (Cdc42/Rac)-activated kinase 7							101.0	103.0	102.0					20																	9547019		2203	4300	6503	SO:0001587	stop_gained	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9547019G>A	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1003C>T	20.37:g.9547019G>A	ENSP00000367686:p.Arg335*					PAK7_ENST00000378423.1_Nonsense_Mutation_p.R335*|PAK7_ENST00000353224.5_Nonsense_Mutation_p.R335*	p.R335*	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		6	1549	-			335		R -> P (in dbSNP:rs11700112).	Linker.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Nonsense_Mutation	SNP	ENST00000378429.3	37	c.1003C>T	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	G	41	8.634817	0.98895	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	.	.	.	5.94	5.94	0.96194	.	0.129994	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3593	0.98849	0.0:0.0:1.0:0.0	.	.	.	.	X	335;335;335;283	.	.	R	-	1	2	PAK7	9495019	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	6.793000	0.75130	2.807000	0.96579	0.591000	0.81541	CGA		0.537	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			23	90	0	0	0	0.062417	0	23	90				
CABP1	9478	broad.mit.edu	37	12	121094058	121094058	+	Intron	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr12:121094058G>A	ENST00000316803.3	+	2	788				CABP1_ENST00000288616.3_Missense_Mutation_p.A70T|CABP1_ENST00000453000.1_Missense_Mutation_p.A149T|CABP1_ENST00000351200.2_Intron	NM_001033677.1	NP_001028849.1	Q9NZU7	CABP1_HUMAN	calcium binding protein 1						negative regulation of catalytic activity (GO:0043086)|negative regulation of cell communication by electrical coupling (GO:0010651)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of voltage-gated calcium channel activity (GO:1901386)	cell junction (GO:0030054)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|enzyme inhibitor activity (GO:0004857)|nuclear localization sequence binding (GO:0008139)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAAGGGCTTCGCTGAGAACAG	0.617																																						ENST00000453000.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9						c.(445-447)Gct>Act		calcium binding protein 1							21.0	18.0	19.0					12																	121094058		2203	4300	6503	SO:0001627	intron_variant	9478					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding	g.chr12:121094058G>A	AF169148	CCDS9204.1, CCDS9205.1, CCDS31913.1	12q24.31	2013-01-10	2007-03-12		ENSG00000157782	ENSG00000157782		"""EF-hand domain containing"""	1384	protein-coding gene	gene with protein product	"""calbrain"", ""caldendrin"""	605563				9920909, 10625670	Standard	NM_004276		Approved		uc001tyu.3	Q9NZU7	OTTHUMG00000156794	ENST00000316803.3:c.655-3623G>A	12.37:g.121094058G>A						CABP1_ENST00000316803.3_Intron|CABP1_ENST00000288616.3_Missense_Mutation_p.A70T|CABP1_ENST00000351200.2_Intron	p.A149T			Q9NZU7	CABP1_HUMAN			1	957	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		0			Pro-rich.		O95663|Q8N6H5|Q9NZU8	Missense_Mutation	SNP	ENST00000316803.3	37	c.445G>A	CCDS31913.1	.	.	.	.	.	.	.	.	.	.	G	34	5.340570	0.95783	.	.	ENSG00000157782	ENST00000288616;ENST00000453000	T;T	0.73047	-0.69;-0.71	5.78	5.78	0.91487	.	.	.	.	.	T	0.71195	0.3311	L	0.36672	1.1	0.51482	D	0.999923	D;D	0.61697	0.99;0.976	P;P	0.48952	0.596;0.562	T	0.72478	-0.4281	9	0.52906	T	0.07	.	19.9987	0.97401	0.0:0.0:1.0:0.0	.	149;70	C9J8G2;Q9NZU7-1	.;.	T	70;149	ENSP00000288616:A70T;ENSP00000398959:A149T	ENSP00000288616:A70T	A	+	1	0	CABP1	119578441	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.392000	0.79840	2.738000	0.93877	0.591000	0.81541	GCT		0.617	CABP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345822.1	NM_001033677		6	17	0	0	0	0.029380	0	6	17				
COL17A1	1308	broad.mit.edu	37	10	105796297	105796297	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr10:105796297G>C	ENST00000353479.5	-	48	3661	c.3371C>G	c.(3370-3372)tCt>tGt	p.S1124C	COL17A1_ENST00000369733.3_Missense_Mutation_p.S1079C	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1124	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ATAGTCCAAAGACAGGAGGGA	0.592																																						ENST00000353479.5																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62						c.(3370-3372)tCt>tGt		collagen, type XVII, alpha 1							60.0	55.0	57.0					10																	105796297		2203	4300	6503	SO:0001583	missense	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105796297G>C	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.3371C>G	10.37:g.105796297G>C	ENSP00000340937:p.Ser1124Cys					COL17A1_ENST00000369733.3_Missense_Mutation_p.S1079C	p.S1124C	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	48	3661	-		Colorectal(252;0.103)|Breast(234;0.122)	1124			Triple-helical region.		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	37	c.3371C>G	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190348	0.78789	.	.	ENSG00000065618	ENST00000353479;ENST00000369733	D;D	0.92911	-3.13;-2.94	5.75	5.75	0.90469	.	0.163737	0.29145	N	0.013013	D	0.94647	0.8274	M	0.71206	2.165	0.80722	D	1	D	0.69078	0.997	P	0.55667	0.781	D	0.94914	0.8067	10	0.87932	D	0	-7.1703	18.1381	0.89627	0.0:0.0:1.0:0.0	.	1124	Q9UMD9	COHA1_HUMAN	C	1124;1079	ENSP00000340937:S1124C;ENSP00000358748:S1079C	ENSP00000340937:S1124C	S	-	2	0	COL17A1	105786287	1.000000	0.71417	0.757000	0.31301	0.932000	0.56968	5.851000	0.69481	2.715000	0.92844	0.549000	0.68633	TCT		0.592	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		7	25	0	0	0	0.038147	0	7	25				
ZNF408	79797	broad.mit.edu	37	11	46726882	46726882	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:46726882C>G	ENST00000311764.2	+	5	1862	c.1632C>G	c.(1630-1632)atC>atG	p.I544M		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	544					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCCATCTCATCTCACACACCG	0.677																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)	ENST00000311764.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1630-1632)atC>atG		zinc finger protein 408							36.0	28.0	31.0					11																	46726882		2199	4293	6492	SO:0001583	missense	79797				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr11:46726882C>G	AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"""Zinc fingers, C2H2-type"""	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.1632C>G	11.37:g.46726882C>G	ENSP00000309606:p.Ile544Met						p.I544M	NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN			5	1862	+			544						Missense_Mutation	SNP	ENST00000311764.2	37	c.1632C>G	CCDS7923.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003971	0.54254	.	.	ENSG00000175213	ENST00000311764	T	0.15372	2.43	5.59	4.62	0.57501	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45867	D	0.000327	T	0.17704	0.0425	N	0.10645	0.015	0.35201	D	0.774279	D;D	0.64830	0.994;0.994	D;D	0.68353	0.957;0.957	T	0.15093	-1.0449	10	0.54805	T	0.06	-22.94	6.7878	0.23683	0.1329:0.6669:0.1286:0.0716	.	536;544	B4DXY4;Q9H9D4	.;ZN408_HUMAN	M	544	ENSP00000309606:I544M	ENSP00000309606:I544M	I	+	3	3	ZNF408	46683458	0.265000	0.24102	1.000000	0.80357	0.967000	0.64934	0.317000	0.19487	2.623000	0.88846	0.462000	0.41574	ATC		0.677	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390485.2	NM_024741		10	24	0	0	0	0.069234	0	10	24				
CDON	50937	broad.mit.edu	37	11	125891182	125891182	+	Missense_Mutation	SNP	C	C	T	rs375179830		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:125891182C>T	ENST00000392693.3	-	3	437	c.310G>A	c.(310-312)Ggt>Agt	p.G104S	CDON_ENST00000263577.7_Missense_Mutation_p.G104S	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	104	Ig-like C2-type 1.				anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		ACAATGGCACCGATGCTATTG	0.433																																						ENST00000392693.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(310-312)Ggt>Agt		cell adhesion associated, oncogene regulated		C	SER/GLY	0,4402		0,0,2201	57.0	57.0	57.0		310	5.8	0.3	11		57	1,8597	1.2+/-3.3	0,1,4298	no	missense	CDON	NM_016952.4	56	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	104/1265	125891182	1,12999	2201	4299	6500	SO:0001583	missense	50937				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding	g.chr11:125891182C>T	AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.310G>A	11.37:g.125891182C>T	ENSP00000376458:p.Gly104Ser					CDON_ENST00000263577.7_Missense_Mutation_p.G104S	p.G104S	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)	3	437	-	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	104			Ig-like C2-type 1.		O14631	Missense_Mutation	SNP	ENST00000392693.3	37	c.310G>A	CCDS58192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.04|19.04	3.750462|3.750462	0.69533|0.69533	0.0|0.0	1.16E-4|1.16E-4	ENSG00000064309|ENSG00000064309	ENST00000392693;ENST00000263577;ENST00000531586;ENST00000527967;ENST00000534818|ENST00000534661	T;T;T;T;T|.	0.57752|.	0.38;0.38;0.38;0.38;0.38|.	5.78|5.78	5.78|5.78	0.91487|0.91487	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.53938|.	D|.	0.000041|.	D|D	0.86535|0.86535	0.5956|0.5956	M|M	0.90922|0.90922	3.16|3.16	0.46028|0.46028	D|D	0.99882|0.99882	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	D|D	0.88394|0.88394	0.3010|0.3010	10|5	0.87932|.	D|.	0|.	-23.5751|-23.5751	20.0139|20.0139	0.97470|0.97470	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	104;104;104|.	E9PRD8;Q4KMG0;Q4KMG0-2|.	.;CDON_HUMAN;.|.	S|Q	104|79	ENSP00000376458:G104S;ENSP00000263577:G104S;ENSP00000434212:G104S;ENSP00000436940:G104S;ENSP00000437176:G104S|.	ENSP00000263577:G104S|.	G|R	-|-	1|2	0|0	CDON|CDON	125396392|125396392	1.000000|1.000000	0.71417|0.71417	0.306000|0.306000	0.25113|0.25113	0.200000|0.200000	0.23975|0.23975	6.376000|6.376000	0.73141|0.73141	2.724000|2.724000	0.93272|0.93272	0.563000|0.563000	0.77884|0.77884	GGT|CGG		0.433	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952		5	31	0	0	0	0.014758	0	5	31				
SCAF4	57466	broad.mit.edu	37	21	33067131	33067131	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr21:33067131G>A	ENST00000286835.7	-	10	1613	c.1231C>T	c.(1231-1233)Cag>Tag	p.Q411*	SCAF4_ENST00000399804.1_Nonsense_Mutation_p.Q411*|SCAF4_ENST00000434667.3_Nonsense_Mutation_p.Q396*	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	411						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TTTACCTGCTGATGCGGCTTC	0.408																																						ENST00000286835.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1231-1233)Cag>Tag		SR-related CTD-associated factor 4							86.0	85.0	85.0					21																	33067131		2203	4300	6503	SO:0001587	stop_gained	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33067131G>A	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.1231C>T	21.37:g.33067131G>A	ENSP00000286835:p.Gln411*					SCAF4_ENST00000434667.3_Nonsense_Mutation_p.Q396*|SCAF4_ENST00000399804.1_Nonsense_Mutation_p.Q411*	p.Q411*	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN			10	1613	-			411					C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Nonsense_Mutation	SNP	ENST00000286835.7	37	c.1231C>T	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	G	43	9.873877	0.99285	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	.	.	.	6.17	6.17	0.99709	.	0.313045	0.35708	N	0.003021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-1.9771	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	396;411;411	.	ENSP00000286835:Q411X	Q	-	1	0	SCAF4	31989002	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.505000	0.81655	2.941000	0.99782	0.655000	0.94253	CAG		0.408	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		12	40	0	0	0	0.093190	0	12	40				
PCDH10	57575	broad.mit.edu	37	4	134076091	134076091	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr4:134076091G>A	ENST00000264360.5	+	3	3536	c.2710G>A	c.(2710-2712)Gac>Aac	p.D904N		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	904					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CCAGGAAGCCGACATAGTAAG	0.433																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(2710-2712)Gac>Aac		protocadherin 10							121.0	118.0	119.0					4																	134076091		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134076091G>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2710G>A	4.37:g.134076091G>A	ENSP00000264360:p.Asp904Asn						p.D904N	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	3	3536	+			904					Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.2710G>A	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.725174	0.89298	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.61392	0.11	5.55	5.55	0.83447	.	0.000000	0.45361	D	0.000364	T	0.70107	0.3186	L	0.41492	1.28	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.69060	-0.5245	10	0.52906	T	0.07	.	19.2868	0.94082	0.0:0.0:1.0:0.0	.	904	Q9P2E7	PCD10_HUMAN	N	904	ENSP00000264360:D904N	ENSP00000264360:D904N	D	+	1	0	PCDH10	134295541	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.263000	0.95617	2.885000	0.99019	0.655000	0.94253	GAC		0.433	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		12	26	0	0	0	0.093190	0	12	26				
TAGLN	6876	broad.mit.edu	37	11	117075058	117075058	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:117075058C>T	ENST00000532870.1	+	4	1730	c.589C>T	c.(589-591)Cgg>Tgg	p.R197W	PCSK7_ENST00000529458.1_5'Flank|TAGLN_ENST00000392951.4_Missense_Mutation_p.R197W|PCSK7_ENST00000320934.3_3'UTR|TAGLN_ENST00000530649.1_Missense_Mutation_p.R197W			Q01995	TAGL_HUMAN	transgelin	197					epithelial cell differentiation (GO:0030855)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)				central_nervous_system(1)|large_intestine(4)|lung(1)|urinary_tract(1)	7	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|Epithelial(105;5.49e-05)|all cancers(92;0.000435)		CGGACGACCTCGGCAGATCAT	0.647																																						ENST00000532870.1																			0				central_nervous_system(1)|large_intestine(4)|lung(1)|urinary_tract(1)	7						c.(589-591)Cgg>Tgg		transgelin							61.0	62.0	62.0					11																	117075058		2201	4296	6497	SO:0001583	missense	6876				muscle organ development	cytoplasm	actin binding	g.chr11:117075058C>T	M95787	CCDS8381.1	11q23.2	2008-07-21				ENSG00000149591			11553	protein-coding gene	gene with protein product	"""SM22-alpha"", ""transgelin variant 2"""	600818				8117285, 1520290	Standard	NM_003186		Approved	SM22, WS3-10, TAGLN1, SMCC, DKFZp686P11128	uc001pqm.3	Q01995		ENST00000532870.1:c.589C>T	11.37:g.117075058C>T	ENSP00000432282:p.Arg197Trp					TAGLN_ENST00000530649.1_Missense_Mutation_p.R197W|TAGLN_ENST00000392951.4_Missense_Mutation_p.R197W|PCSK7_ENST00000320934.3_3'UTR	p.R197W			Q01995	TAGL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|Epithelial(105;5.49e-05)|all cancers(92;0.000435)	4	1730	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	197					O15542	Missense_Mutation	SNP	ENST00000532870.1	37	c.589C>T	CCDS8381.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273054	0.59649	.	.	ENSG00000149591	ENST00000392951;ENST00000525531;ENST00000278968;ENST00000530649;ENST00000532870	D;D;D;D;D	0.91631	-2.88;-2.88;-2.88;-2.88;-2.88	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	D	0.93638	0.7968	M	0.92923	3.36	0.80722	D	1	B	0.30146	0.27	B	0.34242	0.178	D	0.93778	0.7081	10	0.87932	D	0	.	11.4719	0.50275	0.1798:0.8202:0.0:0.0	.	197	Q01995	TAGL_HUMAN	W	197	ENSP00000376678:R197W;ENSP00000432054:R197W;ENSP00000278968:R197W;ENSP00000431941:R197W;ENSP00000432282:R197W	ENSP00000278968:R197W	R	+	1	2	TAGLN	116580268	0.996000	0.38824	1.000000	0.80357	0.995000	0.86356	1.982000	0.40638	2.411000	0.81874	0.491000	0.48974	CGG		0.647	TAGLN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392864.1	NM_001001522		16	49	0	0	0	0.146539	0	16	49				
USP15	9958	broad.mit.edu	37	12	62708688	62708688	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr12:62708688G>A	ENST00000280377.5	+	4	524	c.466G>A	c.(466-468)Gac>Aac	p.D156N	USP15_ENST00000353364.3_Missense_Mutation_p.D156N|USP15_ENST00000550632.1_3'UTR|USP15_ENST00000393654.3_Missense_Mutation_p.D156N|USP15_ENST00000312635.6_Missense_Mutation_p.D156N	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	156					BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TAGCAAAGCTGACACAATAGG	0.308																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(466-468)Gac>Aac		ubiquitin specific peptidase 15							152.0	158.0	156.0					12																	62708688		2203	4300	6503	SO:0001583	missense	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62708688G>A	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.466G>A	12.37:g.62708688G>A	ENSP00000280377:p.Asp156Asn					USP15_ENST00000312635.6_Missense_Mutation_p.D156N|USP15_ENST00000353364.3_Missense_Mutation_p.D156N|USP15_ENST00000550632.1_3'UTR|USP15_ENST00000393654.3_Missense_Mutation_p.D156N	p.D156N	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	4	524	+			156					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	c.466G>A	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888293	0.91814	.	.	ENSG00000135655	ENST00000353364;ENST00000549523;ENST00000280377;ENST00000312635;ENST00000393654;ENST00000548836;ENST00000546694	T;T;T	0.24723	2.01;1.84;2.0	5.39	5.39	0.77823	.	0.222920	0.44097	D	0.000485	T	0.49133	0.1539	L	0.58810	1.83	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;P	0.79108	0.975;0.992;0.853	T	0.34477	-0.9827	9	.	.	.	-12.41	19.1443	0.93458	0.0:0.0:1.0:0.0	.	156;156;156	Q9Y4E8;Q9Y4E8-2;Q9H8G9	UBP15_HUMAN;.;.	N	156;164;156;156;156;102;35	ENSP00000258123:D156N;ENSP00000280377:D156N;ENSP00000377264:D156N	.	D	+	1	0	USP15	60994955	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	9.837000	0.99465	2.509000	0.84616	0.557000	0.71058	GAC		0.308	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		34	137	0	0	0	0.064281	0	34	137				
ZNF568	374900	broad.mit.edu	37	19	37440743	37440743	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:37440743G>T	ENST00000333987.7	+	7	1194	c.688G>T	c.(688-690)Gac>Tac	p.D230Y	ZNF568_ENST00000415168.1_Missense_Mutation_p.D166Y|ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	230					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGTGGACAAGACTTCAGTCA	0.398																																						ENST00000415168.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29						c.(496-498)Gac>Tac		zinc finger protein 568							74.0	75.0	75.0					19																	37440743		2078	4241	6319	SO:0001583	missense	374900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37440743G>T	BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.688G>T	19.37:g.37440743G>T	ENSP00000334685:p.Asp230Tyr					ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000333987.7_Missense_Mutation_p.D230Y	p.D166Y	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	872	+	Esophageal squamous(110;0.183)		230					B4DS92|E7ER33|Q6N060|Q8NA64	Missense_Mutation	SNP	ENST00000333987.7	37	c.496G>T	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408983	0.42715	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	T;T	0.07908	3.15;3.15	4.21	3.17	0.36434	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.398975	0.18415	N	0.141931	T	0.09730	0.0239	N	0.21448	0.665	0.09310	N	0.999997	P	0.45240	0.854	P	0.53266	0.722	T	0.11084	-1.0602	10	0.56958	D	0.05	.	5.2216	0.15371	0.1059:0.0:0.6914:0.2027	.	230	Q3ZCX4	ZN568_HUMAN	Y	230;166	ENSP00000334685:D230Y;ENSP00000394514:D166Y	ENSP00000334685:D230Y	D	+	1	0	ZNF568	42132583	0.000000	0.05858	0.211000	0.23655	0.988000	0.76386	-0.209000	0.09358	1.102000	0.41551	0.650000	0.86243	GAC		0.398	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	NM_198539		14	72	1	0	2.61681e-11	0.119110	2.79069e-11	14	72				
KIF24	347240	broad.mit.edu	37	9	34286638	34286638	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr9:34286638C>G	ENST00000402558.2	-	5	1216	c.1192G>C	c.(1192-1194)Gac>Cac	p.D398H	KIF24_ENST00000345050.2_Intron|KIF24_ENST00000379174.3_Intron|KIF24_ENST00000379166.2_Missense_Mutation_p.D398H			Q5T7B8	KIF24_HUMAN	kinesin family member 24	398	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TCCACACTGTCCACCTGAAGC	0.443																																						ENST00000379166.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(1192-1194)Gac>Cac		kinesin family member 24							119.0	119.0	119.0					9																	34286638		1947	4148	6095	SO:0001583	missense	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34286638C>G	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.1192G>C	9.37:g.34286638C>G	ENSP00000384433:p.Asp398His					KIF24_ENST00000379174.3_Intron|KIF24_ENST00000345050.2_Intron|KIF24_ENST00000402558.2_Missense_Mutation_p.D398H	p.D398H	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		6	1311	-			398			Kinesin-motor.		Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	ENST00000402558.2	37	c.1192G>C	CCDS6551.2	.	.	.	.	.	.	.	.	.	.	C	14.81	2.646760	0.47258	.	.	ENSG00000186638	ENST00000402558;ENST00000379166;ENST00000420188	T;T	0.75260	-0.92;-0.92	5.58	5.58	0.84498	Kinesin, motor domain (4);	.	.	.	.	T	0.67202	0.2868	L	0.31804	0.96	0.80722	D	1	P;P	0.49307	0.826;0.922	B;P	0.46718	0.39;0.525	T	0.69537	-0.5119	9	0.56958	D	0.05	.	10.0978	0.42486	0.0:0.8513:0.0:0.1487	.	398;398	Q5T7B8-4;Q5T7B8	.;KIF24_HUMAN	H	398	ENSP00000384433:D398H;ENSP00000368464:D398H	ENSP00000368464:D398H	D	-	1	0	KIF24	34276638	1.000000	0.71417	1.000000	0.80357	0.303000	0.27691	2.852000	0.48310	2.621000	0.88768	0.563000	0.77884	GAC		0.443	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			9	55	0	0	0	0.047766	0	9	55				
SIN3B	23309	broad.mit.edu	37	19	16980676	16980676	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:16980676G>A	ENST00000248054.5	+	13	2233	c.2212G>A	c.(2212-2214)Gat>Aat	p.D738N	SIN3B_ENST00000379803.1_Missense_Mutation_p.D770N|SIN3B_ENST00000595541.1_Missense_Mutation_p.D328N					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GCCCCTGGACGATGTCTACAG	0.642																																						ENST00000379803.1																			0				endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(2308-2310)Gat>Aat		SIN3 transcription regulator family member B							53.0	46.0	49.0					19																	16980676		2203	4300	6503	SO:0001583	missense	23309				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding	g.chr19:16980676G>A	AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.2212G>A	19.37:g.16980676G>A	ENSP00000248054:p.Asp738Asn					SIN3B_ENST00000595541.1_Missense_Mutation_p.D328N|SIN3B_ENST00000248054.5_Missense_Mutation_p.D738N	p.D770N	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN			14	2322	+			770						Missense_Mutation	SNP	ENST00000248054.5	37	c.2308G>A		.	.	.	.	.	.	.	.	.	.	G	10.12	1.263750	0.23136	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.46451	0.88;0.87	4.73	4.73	0.59995	.	0.060333	0.64402	D	0.000003	T	0.36441	0.0967	L	0.33339	1.005	0.22835	N	0.998676	B;D;P	0.53151	0.04;0.958;0.881	B;P;B	0.45794	0.006;0.493;0.185	T	0.28364	-1.0046	10	0.52906	T	0.07	-40.937	12.2103	0.54375	0.0835:0.0:0.9164:0.0	.	328;738;770	B7Z392;O75182-2;O75182	.;.;SIN3B_HUMAN	N	770;738	ENSP00000369131:D770N;ENSP00000248054:D738N	ENSP00000248054:D738N	D	+	1	0	SIN3B	16841676	1.000000	0.71417	0.669000	0.29828	0.025000	0.11179	6.209000	0.72171	2.168000	0.68352	0.313000	0.20887	GAT		0.642	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260		7	25	0	0	0	0.038147	0	7	25				
C1QTNF2	114898	broad.mit.edu	37	5	159776351	159776351	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:159776351C>T	ENST00000393975.3	-	3	820	c.817G>A	c.(817-819)Ggc>Agc	p.G273S		NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	228	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				activation of MAPK activity (GO:0000187)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCGTGGTTGCCGGTGTTGGCA	0.577																																						ENST00000393975.3																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13						c.(817-819)Ggc>Agc		C1q and tumor necrosis factor related protein 2							100.0	98.0	99.0					5																	159776351		2203	4300	6503	SO:0001583	missense	114898					collagen		g.chr5:159776351C>T	AF329836	CCDS4351.2	5q33.3	2008-05-15			ENSG00000145861	ENSG00000145861			14325	protein-coding gene	gene with protein product							Standard	XM_005265815		Approved	CTRP2	uc003lyd.3	Q9BXJ5	OTTHUMG00000130323	ENST00000393975.3:c.817G>A	5.37:g.159776351C>T	ENSP00000377545:p.Gly273Ser						p.G273S	NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		3	820	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	228			C1q.			Missense_Mutation	SNP	ENST00000393975.3	37	c.817G>A	CCDS4351.2	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398408	0.83120	.	.	ENSG00000145861	ENST00000393975	T	0.37915	1.17	5.44	5.44	0.79542	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	T	0.53818	0.1820	L	0.45137	1.4	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.45026	-0.9289	10	0.35671	T	0.21	.	18.8741	0.92328	0.0:1.0:0.0:0.0	.	228	Q9BXJ5	C1QT2_HUMAN	S	273	ENSP00000377545:G273S	ENSP00000377545:G273S	G	-	1	0	C1QTNF2	159708929	1.000000	0.71417	0.950000	0.38849	0.570000	0.35934	7.818000	0.86416	2.560000	0.86352	0.655000	0.94253	GGC		0.577	C1QTNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252672.2			4	91	0	0	0	0.150653	0	4	91				
RSAD2	91543	broad.mit.edu	37	2	7035928	7035928	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:7035928G>A	ENST00000382040.3	+	6	1077	c.941G>A	c.(940-942)aGa>aAa	p.R314K	RSAD2_ENST00000541728.1_Missense_Mutation_p.R207K	NM_080657.4	NP_542388.2			radical S-adenosyl methionine domain containing 2											endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		CTGAACTGTAGAAAGGGACGG	0.378																																						ENST00000382040.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20						c.(940-942)aGa>aAa		radical S-adenosyl methionine domain containing 2							76.0	75.0	76.0					2																	7035928		2203	4300	6503	SO:0001583	missense	91543				defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding	g.chr2:7035928G>A	AF442151	CCDS1656.1	2p25.2	2008-02-05			ENSG00000134321	ENSG00000134321			30908	protein-coding gene	gene with protein product		607810				11752458	Standard	NM_080657		Approved	cig5, viperin, vig1	uc002qyp.1	Q8WXG1	OTTHUMG00000090352	ENST00000382040.3:c.941G>A	2.37:g.7035928G>A	ENSP00000371471:p.Arg314Lys					RSAD2_ENST00000541728.1_Missense_Mutation_p.R207K	p.R314K	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.191)	6	1077	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		314						Missense_Mutation	SNP	ENST00000382040.3	37	c.941G>A	CCDS1656.1	.	.	.	.	.	.	.	.	.	.	G	4.751	0.139715	0.09083	.	.	ENSG00000134321	ENST00000382040;ENST00000541728	D;D	0.91945	-2.94;-2.94	5.57	-7.43	0.01383	.	0.568056	0.19159	N	0.121223	D	0.84692	0.5528	M	0.72118	2.19	0.09310	N	1	B	0.18863	0.031	B	0.20767	0.031	T	0.70608	-0.4825	10	0.16896	T	0.51	-3.1293	3.4066	0.07343	0.3263:0.3495:0.2381:0.0861	.	314	Q8WXG1	RSAD2_HUMAN	K	314;207	ENSP00000371471:R314K;ENSP00000440859:R207K	ENSP00000371471:R314K	R	+	2	0	RSAD2	6953379	0.045000	0.20229	0.000000	0.03702	0.441000	0.31987	-0.012000	0.12699	-1.358000	0.02177	-0.872000	0.02987	AGA		0.378	RSAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206724.2	NM_080657		12	50	0	0	0	0.105934	0	12	50				
CDK3	1018	broad.mit.edu	37	17	73998157	73998157	+	Silent	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr17:73998157C>T	ENST00000425876.2	+	3	337	c.249C>T	c.(247-249)ctC>ctT	p.L83L	TEN1-CDK3_ENST00000567351.1_RNA|CDK3_ENST00000448471.1_Silent_p.L83L			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	83	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|G0 to G1 transition (GO:0045023)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			central_nervous_system(1)	1						TTGAGTTCCTCAGCCAGGACC	0.572																																						ENST00000425876.2																			0				central_nervous_system(1)	1						c.(247-249)ctC>ctT		cyclin-dependent kinase 3							128.0	106.0	113.0					17																	73998157		2203	4300	6503	SO:0001819	synonymous_variant	1018				cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity	g.chr17:73998157C>T	X66357	CCDS11736.1	17q25.1	2012-09-20			ENSG00000250506	ENSG00000250506		"""Cyclin-dependent kinases"""	1772	protein-coding gene	gene with protein product		123828				1639063	Standard	NM_001258		Approved		uc010dgt.3	Q00526	OTTHUMG00000154861	ENST00000425876.2:c.249C>T	17.37:g.73998157C>T						TEN1-CDK3_ENST00000567351.1_RNA|CDK3_ENST00000448471.1_Silent_p.L83L	p.L83L			Q00526	CDK3_HUMAN			3	337	+			83			Protein kinase.			Silent	SNP	ENST00000425876.2	37	c.249C>T	CCDS11736.1																																																																																				0.572	CDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337389.2	NM_001258		14	54	0	0	0	0.132662	0	14	54				
CKB	1152	broad.mit.edu	37	14	103986629	103986629	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr14:103986629G>A	ENST00000348956.2	-	7	1154	c.797C>T	c.(796-798)tCt>tTt	p.S266F		NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	266	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular chloride ion homeostasis (GO:0030644)|cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	ATAGTCCTTAGACTTGAAGAG	0.567																																					Esophageal Squamous(186;2492 2823 49929 50127)	ENST00000348956.2																			0				lung(2)|prostate(1)	3						c.(796-798)tCt>tTt		creatine kinase, brain	Creatine(DB00148)						56.0	57.0	57.0					14																	103986629		2203	4300	6503	SO:0001583	missense	1152				creatine metabolic process	cytosol	ATP binding|creatine kinase activity	g.chr14:103986629G>A		CCDS9981.1	14q32.32	2012-10-02			ENSG00000166165	ENSG00000166165	2.7.3.2		1991	protein-coding gene	gene with protein product		123280		CKBB			Standard	NM_001823		Approved		uc001ynf.2	P12277	OTTHUMG00000171786	ENST00000348956.2:c.797C>T	14.37:g.103986629G>A	ENSP00000299198:p.Ser266Phe						p.S266F	NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	Epithelial(46;0.14)		7	1154	-		Melanoma(154;0.155)	266			Phosphagen kinase C-terminal.		A8K236|B2R5R4|Q2LE07|Q6FG40|Q9UC66	Missense_Mutation	SNP	ENST00000348956.2	37	c.797C>T	CCDS9981.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316615	0.60524	.	.	ENSG00000166165	ENST00000348956;ENST00000428256;ENST00000553610	T;T	0.23950	1.88;2.74	4.83	4.83	0.62350	ATP:guanido phosphotransferase, catalytic domain (2);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.381500	0.29093	N	0.013174	T	0.35653	0.0939	M	0.82056	2.57	0.34981	D	0.754138	P	0.38767	0.646	B	0.42282	0.382	T	0.56238	-0.8012	10	0.72032	D	0.01	-21.0013	10.2789	0.43528	0.0:0.1456:0.7036:0.1507	.	266	P12277	KCRB_HUMAN	F	266;231;64	ENSP00000299198:S266F;ENSP00000451426:S64F	ENSP00000299198:S266F	S	-	2	0	CKB	103056382	0.999000	0.42202	0.952000	0.39060	0.932000	0.56968	4.134000	0.57990	2.224000	0.72417	0.462000	0.41574	TCT		0.567	CKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415111.1			8	35	0	0	0	0.038147	0	8	35				
KPNA5	3841	broad.mit.edu	37	6	117047696	117047696	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr6:117047696G>C	ENST00000368564.1	+	12	1312	c.1164G>C	c.(1162-1164)gaG>gaC	p.E388D	KPNA5_ENST00000356348.1_Missense_Mutation_p.E388D			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)	385	NLS binding site (minor). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		TTTTGATTGAGATTCTTCAGA	0.338																																						ENST00000368564.1																			0				breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1162-1164)gaG>gaC		karyopherin alpha 5 (importin alpha 6)							87.0	91.0	90.0					6																	117047696		2203	4300	6503	SO:0001583	missense	3841				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity	g.chr6:117047696G>C	AF005361	CCDS5111.1	6q22.2	2013-02-14			ENSG00000196911	ENSG00000196911		"""Importins"", ""Armadillo repeat containing"""	6398	protein-coding gene	gene with protein product		604545				9395085	Standard	NM_002269		Approved	SRP6, IPOA6	uc003pxh.3	O15131	OTTHUMG00000015448	ENST00000368564.1:c.1164G>C	6.37:g.117047696G>C	ENSP00000357552:p.Glu388Asp					KPNA5_ENST00000356348.1_Missense_Mutation_p.E388D	p.E388D			O15131	IMA5_HUMAN		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)	12	1312	+		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	385			NLS binding site (minor) (By similarity).		B2RAI5|Q86X23	Missense_Mutation	SNP	ENST00000368564.1	37	c.1164G>C	CCDS5111.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.523500	0.27299	.	.	ENSG00000196911	ENST00000368564;ENST00000356348	T;T	0.68479	-0.33;-0.33	5.47	2.26	0.28386	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.21468	0.0517	N	0.05414	-0.055	0.32012	N	0.602018	B	0.02656	0.0	B	0.09377	0.004	T	0.07751	-1.0756	10	0.16420	T	0.52	.	11.1223	0.48298	0.3321:0.0:0.6679:0.0	.	385	O15131	IMA5_HUMAN	D	388	ENSP00000357552:E388D;ENSP00000348704:E388D	ENSP00000348704:E388D	E	+	3	2	KPNA5	117154389	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	0.637000	0.24659	0.711000	0.32018	0.478000	0.44815	GAG		0.338	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041967.1	NM_002269		22	67	0	0	0	0.076483	0	22	67				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	3	40	0	0	0	0.115264	0	3	40				
TCHH	7062	broad.mit.edu	37	1	152083791	152083791	+	Silent	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:152083791C>T	ENST00000368804.1	-	2	1901	c.1902G>A	c.(1900-1902)ctG>ctA	p.L634L		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	634	9 X 28 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCGCTCTTCAGCAGCTGCT	0.672																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(1900-1902)ctG>ctA		trichohyalin							39.0	45.0	43.0					1																	152083791		2000	4171	6171	SO:0001819	synonymous_variant	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152083791C>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1902G>A	1.37:g.152083791C>T							p.L634L	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1901	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		634			9 X 28 AA approximate tandem repeats.		Q5VUI3	Silent	SNP	ENST00000368804.1	37	c.1902G>A	CCDS41396.1																																																																																				0.672	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		22	46	0	0	0	0.069288	0	22	46				
MAP2K7	5609	broad.mit.edu	37	19	7968931	7968931	+	Silent	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:7968931C>T	ENST00000397979.3	+	1	156	c.102C>T	c.(100-102)atC>atT	p.I34I	AC010336.1_ENST00000539278.1_5'Flank|MAP2K7_ENST00000397983.3_Silent_p.I34I|RN7SL115P_ENST00000392196.5_RNA|MAP2K7_ENST00000545011.1_Silent_p.I34I|MAP2K7_ENST00000397981.3_Silent_p.I34I	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	34					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						ACCTGGATATCAGCCCCCAGC	0.741																																						ENST00000545011.1																			0				breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						c.(100-102)atC>atT		mitogen-activated protein kinase kinase 7	Etoposide(DB00773)																																			SO:0001819	synonymous_variant	5609				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr19:7968931C>T	AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.102C>T	19.37:g.7968931C>T						MAP2K7_ENST00000397979.3_Silent_p.I34I|MAP2K7_ENST00000397981.3_Silent_p.I34I|MAP2K7_ENST00000397983.3_Silent_p.I34I	p.I34I			O14733	MP2K7_HUMAN			1	167	+			34					B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Silent	SNP	ENST00000397979.3	37	c.102C>T	CCDS42491.1																																																																																				0.741	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1			5	12	0	0	0	0.014758	0	5	12				
TTN	7273	broad.mit.edu	37	2	179427277	179427277	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:179427277G>C	ENST00000591111.1	-	276	78883	c.78659C>G	c.(78658-78660)tCt>tGt	p.S26220C	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S27861C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S18988C|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S25293C|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S18921C|TTN_ENST00000460472.2_Missense_Mutation_p.S18796C|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26220	Fibronectin type-III 90. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGTGGTTCAGACACTTTAAC	0.443																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(83581-83583)tCt>tGt		titin							82.0	79.0	80.0					2																	179427277		1858	4098	5956	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179427277G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.78659C>G	2.37:g.179427277G>C	ENSP00000465570:p.Ser26220Cys					TTN_ENST00000342992.6_Missense_Mutation_p.S25293C|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S18988C|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S18796C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S26220C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S18921C|TTN-AS1_ENST00000592689.1_RNA	p.S27861C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	83806	-			26220			Ig-like 130.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.83582C>G		.	.	.	.	.	.	.	.	.	.	G	13.21	2.168696	0.38315	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.67	5.67	0.87782	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70193	0.3196	L	0.55103	1.725	0.58432	D	0.999995	D;D;D;D	0.89917	0.998;0.998;0.998;1.0	P;P;P;D	0.72338	0.764;0.764;0.764;0.977	T	0.71454	-0.4588	9	0.87932	D	0	.	19.7469	0.96255	0.0:0.0:1.0:0.0	.	18796;18921;18988;26220	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	25293;18796;18988;18921;18794	ENSP00000343764:S25293C;ENSP00000434586:S18796C;ENSP00000340554:S18988C;ENSP00000352154:S18921C	ENSP00000340554:S18988C	S	-	2	0	TTN	179135523	1.000000	0.71417	0.916000	0.36221	0.928000	0.56348	9.869000	0.99810	2.673000	0.90976	0.561000	0.74099	TCT		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	48	0	0	0	0.058154	0	10	48				
ST5	6764	broad.mit.edu	37	11	8751512	8751512	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:8751512C>T	ENST00000534127.1	-	6	1710	c.1325G>A	c.(1324-1326)cGc>cAc	p.R442H	ST5_ENST00000530438.1_Intron|ST5_ENST00000357665.1_Missense_Mutation_p.R442H|ST5_ENST00000313726.6_Missense_Mutation_p.R442H|ST5_ENST00000526757.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	442	Interaction with ABL1.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CTGGGACTTGCGGTGACCACG	0.577																																						ENST00000534127.1																			0				NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(1324-1326)cGc>cAc		suppression of tumorigenicity 5							293.0	286.0	288.0					11																	8751512		2201	4296	6497	SO:0001583	missense	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8751512C>T	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.1325G>A	11.37:g.8751512C>T	ENSP00000433528:p.Arg442His					ST5_ENST00000357665.1_Missense_Mutation_p.R442H|ST5_ENST00000530438.1_Intron|ST5_ENST00000313726.6_Missense_Mutation_p.R442H|ST5_ENST00000526757.1_Intron	p.R442H	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	6	1710	-			442			Interaction with ABL1.		B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	c.1325G>A	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269717	0.40095	.	.	ENSG00000166444	ENST00000534127;ENST00000313726;ENST00000357665	T;T;T	0.05855	3.38;3.38;3.38	6.11	5.2	0.72013	.	0.318346	0.37053	N	0.002271	T	0.06096	0.0158	L	0.29908	0.895	0.35051	D	0.760619	B	0.32573	0.376	B	0.23275	0.045	T	0.20107	-1.0285	10	0.66056	D	0.02	-9.1709	15.6375	0.76966	0.0:0.9344:0.0:0.0656	.	442	P78524	ST5_HUMAN	H	442	ENSP00000433528:R442H;ENSP00000319678:R442H;ENSP00000350294:R442H	ENSP00000319678:R442H	R	-	2	0	ST5	8708088	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.831000	0.48144	1.598000	0.50083	-0.150000	0.13652	CGC		0.577	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		6	409	0	0	0	0.021553	0	6	409				
LDHB	3945	broad.mit.edu	37	12	21794926	21794926	+	Silent	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr12:21794926G>A	ENST00000396076.1	-	5	887	c.555C>T	c.(553-555)agC>agT	p.S185S	LDHB_ENST00000350669.1_Silent_p.S185S	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	185					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|lactate metabolic process (GO:0006089)|NAD metabolic process (GO:0019674)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	L-lactate dehydrogenase activity (GO:0004459)|NAD binding (GO:0051287)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26						ATCCATGGCAGCTGCTGGGAT	0.408																																						ENST00000396076.1																			0				breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26						c.(553-555)agC>agT		lactate dehydrogenase B	NADH(DB00157)						91.0	84.0	87.0					12																	21794926		2203	4299	6502	SO:0001819	synonymous_variant	3945				glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity	g.chr12:21794926G>A		CCDS8691.1	12p12.2-p12.1	2012-10-02			ENSG00000111716	ENSG00000111716	1.1.1.27		6541	protein-coding gene	gene with protein product		150100					Standard	NM_002300		Approved		uc001rfe.3	P07195	OTTHUMG00000133760	ENST00000396076.1:c.555C>T	12.37:g.21794926G>A						LDHB_ENST00000350669.1_Silent_p.S185S	p.S185S	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN			5	887	-			185						Silent	SNP	ENST00000396076.1	37	c.555C>T	CCDS8691.1																																																																																				0.408	LDHB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258220.2	NM_002300		13	56	0	0	0	0.105934	0	13	56				
RINT1	60561	broad.mit.edu	37	7	105183014	105183014	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:105183014C>G	ENST00000257700.2	+	4	664	c.433C>G	c.(433-435)Ctt>Gtt	p.L145V		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	145					G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GATGGACGATCTTGGAACCAT	0.413																																						ENST00000257700.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(433-435)Ctt>Gtt		RAD50 interactor 1							130.0	118.0	122.0					7																	105183014		2203	4300	6503	SO:0001583	missense	60561				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	g.chr7:105183014C>G	AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.433C>G	7.37:g.105183014C>G	ENSP00000257700:p.Leu145Val						p.L145V	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN			4	664	+			145					Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	ENST00000257700.2	37	c.433C>G	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.516465	0.44763	.	.	ENSG00000135249	ENST00000257700;ENST00000493041	T	0.35236	1.32	5.16	5.16	0.70880	.	0.060478	0.64402	D	0.000002	T	0.48537	0.1505	L	0.59436	1.845	0.58432	D	0.999998	D	0.64830	0.994	P	0.51895	0.683	T	0.46428	-0.9192	10	0.44086	T	0.13	-13.323	18.6377	0.91384	0.0:1.0:0.0:0.0	.	145	Q6NUQ1	RINT1_HUMAN	V	145;114	ENSP00000257700:L145V	ENSP00000257700:L145V	L	+	1	0	RINT1	104970250	0.999000	0.42202	0.265000	0.24526	0.071000	0.16799	4.146000	0.58072	2.380000	0.81148	0.462000	0.41574	CTT		0.413	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930		19	34	0	0	0	0.043863	0	19	34				
KIRREL2	84063	broad.mit.edu	37	19	36357325	36357325	+	Silent	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:36357325C>T	ENST00000360202.5	+	15	2256	c.2058C>T	c.(2056-2058)ccC>ccT	p.P686P	APLP1_ENST00000221891.4_5'Flank|APLP1_ENST00000537454.2_5'Flank|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Silent_p.P651P|KIRREL2_ENST00000347900.6_Intron|KIRREL2_ENST00000262625.7_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	686	Pro-rich.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATCTGGCCCCCGGGACTCCCC	0.592																																						ENST00000360202.5																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48						c.(2056-2058)ccC>ccT		kin of IRRE like 2 (Drosophila)							94.0	104.0	100.0					19																	36357325		2203	4300	6503	SO:0001819	synonymous_variant	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36357325C>T	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.2058C>T	19.37:g.36357325C>T						KIRREL2_ENST00000347900.6_Intron|KIRREL2_ENST00000262625.7_Intron|KIRREL2_ENST00000586102.2_Silent_p.P666P|KIRREL2_ENST00000592409.1_Silent_p.P651P|NPHS1_ENST00000591817.1_Intron	p.P686P	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		15	2256	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		686			Pro-rich.		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Silent	SNP	ENST00000360202.5	37	c.2058C>T	CCDS12481.1																																																																																				0.592	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		26	71	0	0	0	0.116897	0	26	71				
GABRG1	2565	broad.mit.edu	37	4	46043203	46043203	+	Silent	SNP	A	A	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr4:46043203A>G	ENST00000295452.4	-	9	1367	c.1200T>C	c.(1198-1200)gaT>gaC	p.D400D		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	400					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ACCCATAATCATCTTCTTGCG	0.423																																						ENST00000295452.4																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(1198-1200)gaT>gaC		gamma-aminobutyric acid (GABA) A receptor, gamma 1							92.0	93.0	93.0					4																	46043203		2203	4300	6503	SO:0001819	synonymous_variant	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46043203A>G	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.1200T>C	4.37:g.46043203A>G							p.D400D	NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	9	1367	-			400					Q5H9T8	Silent	SNP	ENST00000295452.4	37	c.1200T>C	CCDS3470.1																																																																																				0.423	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		16	37	0	0	0	0.146539	0	16	37				
FPR2	2358	broad.mit.edu	37	19	52272800	52272800	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:52272800C>T	ENST00000598776.1	+	2	1661	c.889C>T	c.(889-891)Ctc>Ttc	p.L297F	FPR2_ENST00000598953.1_Missense_Mutation_p.L297F|FPR2_ENST00000340023.6_Missense_Mutation_p.L297F	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	297					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CAACAGCTGCCTCAACCCCAT	0.542																																						ENST00000598776.1																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						c.(889-891)Ctc>Ttc		formyl peptide receptor 2							122.0	113.0	116.0					19																	52272800		2203	4300	6503	SO:0001583	missense	2358				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52272800C>T	M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"""GPCR / Class A : Formyl peptide receptors"", ""GPCR / Class A : Leukotriene receptors"""	3827	protein-coding gene	gene with protein product		136538	"""formyl peptide receptor-like 1"""	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.889C>T	19.37:g.52272800C>T	ENSP00000468897:p.Leu297Phe					FPR2_ENST00000598953.1_Missense_Mutation_p.L297F|FPR2_ENST00000340023.6_Missense_Mutation_p.L297F	p.L297F	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN			2	1661	+			297					A8K3E2	Missense_Mutation	SNP	ENST00000598776.1	37	c.889C>T	CCDS12840.1	.	.	.	.	.	.	.	.	.	.	.	17.82	3.482360	0.63962	.	.	ENSG00000171049	ENST00000340023	T	0.32753	1.44	3.96	3.96	0.45880	GPCR, rhodopsin-like superfamily (1);	0.240402	0.30109	U	0.010399	T	0.57636	0.2067	M	0.84219	2.685	0.38458	D	0.94714	D	0.71674	0.998	D	0.85130	0.997	T	0.67841	-0.5566	10	0.87932	D	0	.	13.878	0.63665	0.0:1.0:0.0:0.0	.	297	P25090	FPR2_HUMAN	F	297	ENSP00000340191:L297F	ENSP00000340191:L297F	L	+	1	0	FPR2	56964612	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	3.408000	0.52651	2.226000	0.72624	0.484000	0.47621	CTC		0.542	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738		23	52	0	0	0	0.099896	0	23	52				
GPR112	139378	broad.mit.edu	37	X	135429302	135429302	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chrX:135429302C>G	ENST00000394143.1	+	6	3728	c.3437C>G	c.(3436-3438)tCa>tGa	p.S1146*	GPR112_ENST00000287534.4_Nonsense_Mutation_p.S1083*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.S941*|GPR112_ENST00000370652.1_Nonsense_Mutation_p.S1146*|GPR112_ENST00000412101.1_Nonsense_Mutation_p.S941*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1146					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTTGTCTGCTCAAAACCTCCC	0.488																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(3436-3438)tCa>tGa		G protein-coupled receptor 112							173.0	131.0	145.0					X																	135429302		2203	4300	6503	SO:0001587	stop_gained	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135429302C>G	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.3437C>G	X.37:g.135429302C>G	ENSP00000377699:p.Ser1146*					GPR112_ENST00000412101.1_Nonsense_Mutation_p.S941*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.S941*|GPR112_ENST00000370652.1_Nonsense_Mutation_p.S1146*|GPR112_ENST00000287534.4_Nonsense_Mutation_p.S1083*	p.S1146*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	3728	+	Acute lymphoblastic leukemia(192;0.000127)		1146					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Nonsense_Mutation	SNP	ENST00000394143.1	37	c.3437C>G	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	C	42	9.798579	0.99267	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	.	.	.	2.86	2.86	0.33363	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	9.1976	0.37237	0.0:1.0:0.0:0.0	.	.	.	.	X	1146;1146;941;1083;941	.	ENSP00000287534:S1083X	S	+	2	0	GPR112	135256968	0.034000	0.19679	0.003000	0.11579	0.230000	0.25150	1.894000	0.39768	1.394000	0.46624	0.436000	0.28706	TCA		0.488	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			3	155	0	0	0	0.115264	0	3	155				
ABCF3	55324	broad.mit.edu	37	3	183910898	183910898	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:183910898G>A	ENST00000429586.2	+	19	1944	c.1759G>A	c.(1759-1761)Gag>Aag	p.E587K	EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Missense_Mutation_p.E581K	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	587	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E587Q(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGGGCGGCCTGAGGAGGAGTA	0.632																																						ENST00000429586.2																			1	Substitution - Missense(1)	p.E587Q(1)	cervix(1)	breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39						c.(1759-1761)Gag>Aag		ATP-binding cassette, sub-family F (GCN20), member 3							63.0	60.0	61.0					3																	183910898		2203	4300	6503	SO:0001583	missense	55324						ATP binding|ATPase activity	g.chr3:183910898G>A	U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"""ATP binding cassette transporters / subfamily F"""	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.1759G>A	3.37:g.183910898G>A	ENSP00000411471:p.Glu587Lys					ABCF3_ENST00000292808.5_Missense_Mutation_p.E581K|EIF2B5_ENST00000444495.1_Intron	p.E587K	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		19	1944	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		587			ABC transporter 2.		A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Missense_Mutation	SNP	ENST00000429586.2	37	c.1759G>A	CCDS3254.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.491323	0.64074	.	.	ENSG00000161204	ENST00000429586;ENST00000292808	D;D	0.93659	-3.26;-3.26	4.8	4.8	0.61643	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.90755	0.7098	L	0.41961	1.31	0.80722	D	1	P;B	0.38565	0.637;0.242	B;B	0.37650	0.255;0.166	D	0.91093	0.4908	10	0.49607	T	0.09	-25.4427	17.3916	0.87432	0.0:0.0:1.0:0.0	.	581;587	Q9NUQ8-2;Q9NUQ8	.;ABCF3_HUMAN	K	587;581	ENSP00000411471:E587K;ENSP00000292808:E581K	ENSP00000292808:E581K	E	+	1	0	ABCF3	185393592	1.000000	0.71417	0.999000	0.59377	0.558000	0.35554	9.559000	0.98135	2.650000	0.89964	0.563000	0.77884	GAG		0.632	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	NM_018358		12	39	0	0	0	0.105934	0	12	39				
BTN3A3	10384	broad.mit.edu	37	6	26452578	26452578	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr6:26452578C>T	ENST00000244519.2	+	11	1937	c.1694C>T	c.(1693-1695)tCc>tTc	p.S565F	BTN3A3_ENST00000339789.4_Missense_Mutation_p.S523F|BTN3A3_ENST00000361232.3_Missense_Mutation_p.S516F	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	565					T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						GCTGAGGTCTCCCCTTCTGCA	0.493																																						ENST00000244519.2																			0				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(1693-1695)tCc>tTc		butyrophilin, subfamily 3, member A3							47.0	42.0	44.0					6																	26452578		2203	4300	6503	SO:0001583	missense	10384					integral to membrane		g.chr6:26452578C>T	U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.1694C>T	6.37:g.26452578C>T	ENSP00000244519:p.Ser565Phe					BTN3A3_ENST00000361232.3_Missense_Mutation_p.S516F|BTN3A3_ENST00000339789.4_Missense_Mutation_p.S523F	p.S565F	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN			11	1937	+			565					B4DWI7|E9PCP5	Missense_Mutation	SNP	ENST00000244519.2	37	c.1694C>T	CCDS4611.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.551833	0.27739	.	.	ENSG00000111801	ENST00000244519;ENST00000339789;ENST00000361232	T;T;T	0.39056	1.17;1.1;1.1	1.48	1.48	0.22813	.	.	.	.	.	T	0.10252	0.0251	N	0.14661	0.345	0.09310	N	1	B;B	0.24576	0.106;0.106	B;B	0.22880	0.042;0.042	T	0.27706	-1.0066	9	0.87932	D	0	.	6.798	0.23736	0.0:1.0:0.0:0.0	.	516;565	E9PCP5;O00478	.;BT3A3_HUMAN	F	565;523;516	ENSP00000244519:S565F;ENSP00000344968:S523F;ENSP00000355238:S516F	ENSP00000244519:S565F	S	+	2	0	BTN3A3	26560557	0.004000	0.15560	0.004000	0.12327	0.005000	0.04900	0.673000	0.25203	0.706000	0.31912	0.455000	0.32223	TCC		0.493	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040116.2	NM_006994		9	19	0	0	0	0.069234	0	9	19				
UBFD1	56061	broad.mit.edu	37	16	23570850	23570850	+	Silent	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr16:23570850G>A	ENST00000395878.3	+	3	798	c.417G>A	c.(415-417)ttG>ttA	p.L139L	UBFD1_ENST00000567212.1_Silent_p.L130L|UBFD1_ENST00000571064.1_3'UTR|EARS2_ENST00000563232.1_5'Flank|EARS2_ENST00000449606.1_5'Flank|EARS2_ENST00000564501.1_5'Flank|UBFD1_ENST00000567264.1_Silent_p.L139L|UBFD1_ENST00000219638.4_Silent_p.L363L|EARS2_ENST00000563459.1_5'Flank	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1	139	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.						poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		ATAAAACATTGAGAGAAATAA	0.488																																					Melanoma(22;290 1069 22358 48158)	ENST00000395878.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(415-417)ttG>ttA		ubiquitin family domain containing 1							53.0	52.0	52.0					16																	23570850		1850	4103	5953	SO:0001819	synonymous_variant	56061							g.chr16:23570850G>A	AK124139	CCDS10613.2	16p12.1	2008-11-05			ENSG00000103353	ENSG00000103353			30565	protein-coding gene	gene with protein product	"""ubiquitin-binding protein homolog"""					10493829	Standard	XM_006721064		Approved	FLJ42145, FLJ38870, UBPH	uc002dlv.3	O14562	OTTHUMG00000128855	ENST00000395878.3:c.417G>A	16.37:g.23570850G>A						UBFD1_ENST00000219638.4_Silent_p.L363L|UBFD1_ENST00000571064.1_3'UTR|UBFD1_ENST00000567264.1_Silent_p.L139L|UBFD1_ENST00000567212.1_Silent_p.L130L	p.L139L	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN		GBM - Glioblastoma multiforme(48;0.0331)	3	798	+			139			Ubiquitin-like.		A8MW58|D3DWF2	Silent	SNP	ENST00000395878.3	37	c.417G>A	CCDS10613.2																																																																																				0.488	UBFD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250795.2	NM_019116		5	27	0	0	0	0.021553	0	5	27				
OR5R1	219479	broad.mit.edu	37	11	56185150	56185150	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:56185150G>C	ENST00000312253.1	-	1	558	c.559C>G	c.(559-561)Ctg>Gtg	p.L187V		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					GAGCAGGACAGAGCTAAGAAG	0.448																																						ENST00000312253.1																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(559-561)Ctg>Gtg		olfactory receptor, family 5, subfamily R, member 1							96.0	85.0	89.0					11																	56185150		2201	4295	6496	SO:0001583	missense	219479				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56185150G>C	AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.559C>G	11.37:g.56185150G>C	ENSP00000308595:p.Leu187Val						p.L187V	NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN			1	558	-	Esophageal squamous(21;0.00448)		187						Missense_Mutation	SNP	ENST00000312253.1	37	c.559C>G	CCDS31530.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.876279	0.51801	.	.	ENSG00000174942	ENST00000312253	T	0.00381	7.63	5.72	1.15	0.20763	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00784	0.0026	M	0.85197	2.74	0.09310	N	1	D	0.64830	0.994	P	0.62382	0.901	T	0.45659	-0.9246	9	0.72032	D	0.01	-7.9685	6.32	0.21213	0.2356:0.0:0.6405:0.124	.	187	Q8NH85	OR5R1_HUMAN	V	187	ENSP00000308595:L187V	ENSP00000308595:L187V	L	-	1	2	OR5R1	55941726	0.308000	0.24509	0.026000	0.17262	0.963000	0.63663	1.046000	0.30354	0.227000	0.20999	0.579000	0.79373	CTG		0.448	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744		15	54	0	0	0	0.119110	0	15	54				
LOC401127	401127	broad.mit.edu	37	4	39482422	39482422	+	RNA	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr4:39482422G>A	ENST00000513652.1	+	0	429																											AAACCTTGAAGATACGGGACG	0.463																																						ENST00000513652.1																			0																																																			401127							g.chr4:39482422G>A																													4.37:g.39482422G>A														0	429	+									RNA	SNP	ENST00000513652.1	37																																																																																						0.463	RP11-472B18.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361032.1			14	23	0	0	0	0.105934	0	14	23				
FCN2	2220	broad.mit.edu	37	9	137777654	137777654	+	Missense_Mutation	SNP	G	G	T	rs56281005		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr9:137777654G>T	ENST00000291744.6	+	6	480	c.470G>T	c.(469-471)cGg>cTg	p.R157L	FCN2_ENST00000350339.2_Missense_Mutation_p.R119L	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	157	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|opsonization (GO:0008228)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		GACTTCTACCGGGACTGGGCC	0.677																																						ENST00000350339.2																			0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20						c.(355-357)cGg>cTg		ficolin (collagen/fibrinogen domain containing lectin) 2							65.0	63.0	63.0					9																	137777654		2203	4300	6503	SO:0001583	missense	2220				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding	g.chr9:137777654G>T	D49353	CCDS6983.1	9q34	2013-09-12	2013-09-12		ENSG00000160339	ENSG00000160339		"""Fibrinogen C domain containing"""	3624	protein-coding gene	gene with protein product	"""hucolin"", ""collagen/fibrinogen domain-containing protein 2"", ""ficolin B"", ""serum lectin p35"", ""L-ficolin"""	601624	"""ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)"""			8884275	Standard	XM_006717015		Approved	P35, FCNL, EBP-37, ficolin-2	uc004cfg.1	Q15485	OTTHUMG00000020892	ENST00000291744.6:c.470G>T	9.37:g.137777654G>T	ENSP00000291744:p.Arg157Leu					FCN2_ENST00000291744.6_Missense_Mutation_p.R157L	p.R119L	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)	5	370	+		Myeloproliferative disorder(178;0.0333)	157			Fibrinogen C-terminal.		A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Missense_Mutation	SNP	ENST00000291744.6	37	c.356G>T	CCDS6983.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.074775	0.55646	.	.	ENSG00000160339	ENST00000350339;ENST00000291744	T;T	0.31510	1.49;1.49	3.96	3.06	0.35304	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.197580	0.24920	N	0.034547	T	0.43100	0.1232	M	0.88570	2.965	0.47123	D	0.999325	P;P	0.48640	0.639;0.913	B;P	0.47402	0.192;0.546	T	0.40534	-0.9558	10	0.59425	D	0.04	.	6.1675	0.20398	0.239:0.0:0.761:0.0	.	119;157	Q15485-2;Q15485	.;FCN2_HUMAN	L	119;157	ENSP00000291741:R119L;ENSP00000291744:R157L	ENSP00000291744:R157L	R	+	2	0	FCN2	136917475	0.993000	0.37304	0.934000	0.37439	0.960000	0.62799	3.079000	0.50104	0.618000	0.30179	0.563000	0.77884	CGG		0.677	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054960.1	NM_004108		3	58	1	0	0.115264	0.115264	0.117834	3	58				
PLCE1	51196	broad.mit.edu	37	10	95791053	95791053	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr10:95791053G>C	ENST00000371380.3	+	1	485	c.250G>C	c.(250-252)Gag>Cag	p.E84Q	PLCE1_ENST00000260766.3_Missense_Mutation_p.E84Q			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	84					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGTGAGTGATGAGAACAGTAA	0.383																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(250-252)Gag>Cag		phospholipase C, epsilon 1							81.0	74.0	76.0					10																	95791053		1868	4103	5971	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95791053G>C		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.250G>C	10.37:g.95791053G>C	ENSP00000360431:p.Glu84Gln					PLCE1_ENST00000371380.2_Missense_Mutation_p.E84Q	p.E84Q	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			2	884	+		Colorectal(252;0.0458)	84					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.250G>C	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.975439	0.34848	.	.	ENSG00000138193	ENST00000260766;ENST00000371380	T;T	0.71934	-0.61;-0.61	5.02	3.02	0.34903	.	0.766351	0.11297	N	0.578638	T	0.45357	0.1338	N	0.19112	0.55	0.22317	N	0.999207	P;P	0.38922	0.651;0.651	B;B	0.27887	0.084;0.084	T	0.41142	-0.9525	10	0.56958	D	0.05	.	2.308	0.04179	0.1881:0.1557:0.4965:0.1597	.	84;84	B7ZM61;Q9P212	.;PLCE1_HUMAN	Q	84	ENSP00000260766:E84Q;ENSP00000360431:E84Q	ENSP00000260766:E84Q	E	+	1	0	PLCE1	95781043	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	0.732000	0.26072	2.487000	0.83934	0.655000	0.94253	GAG		0.383	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		25	58	0	0	0	0.091800	0	25	58				
FBLN2	2199	broad.mit.edu	37	3	13655526	13655526	+	Missense_Mutation	SNP	G	G	A	rs551629994	byFrequency	TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:13655526G>A	ENST00000295760.7	+	5	1660	c.1591G>A	c.(1591-1593)Gag>Aag	p.E531K	FBLN2_ENST00000404922.3_Missense_Mutation_p.E531K|FBLN2_ENST00000535798.1_Missense_Mutation_p.E557K|FBLN2_ENST00000492059.1_Missense_Mutation_p.E531K	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	531	Anaphylatoxin-like 3. {ECO:0000255|PROSITE-ProRule:PRU00022}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CGTGCGGGCCGAGGGCCAGTC	0.597													G|||	2	0.000399361	0.0008	0.0	5008	,	,		19556	0.0		0.0	False		,,,				2504	0.001					ENST00000404922.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(1591-1593)Gag>Aag		fibulin 2							48.0	56.0	53.0					3																	13655526		2062	4193	6255	SO:0001583	missense	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13655526G>A	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.1591G>A	3.37:g.13655526G>A	ENSP00000295760:p.Glu531Lys					FBLN2_ENST00000492059.1_Missense_Mutation_p.E531K|FBLN2_ENST00000295760.7_Missense_Mutation_p.E531K|FBLN2_ENST00000535798.1_Missense_Mutation_p.E557K	p.E531K	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		5	1710	+			531			Anaphylatoxin-like 3.		B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	c.1591G>A	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647887	0.67358	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	4.27	4.27	0.50696	Anaphylatoxin/fibulin (4);	0.062463	0.64402	D	0.000006	T	0.33760	0.0874	L	0.27053	0.805	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.945;0.996;0.996	T	0.12993	-1.0526	10	0.48119	T	0.1	.	16.492	0.84203	0.0:0.0:1.0:0.0	.	531;531;557	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	K	557;531;531;531	ENSP00000445705:E557K;ENSP00000384169:E531K;ENSP00000295760:E531K;ENSP00000420042:E531K	ENSP00000295760:E531K	E	+	1	0	FBLN2	13630527	1.000000	0.71417	0.926000	0.36857	0.241000	0.25554	4.566000	0.60843	2.226000	0.72624	0.591000	0.81541	GAG		0.597	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		12	41	0	0	0	0.093190	0	12	41				
PDE1C	5137	broad.mit.edu	37	7	31918650	31918650	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:31918650C>G	ENST00000396191.1	-	4	839	c.384G>C	c.(382-384)aaG>aaC	p.K128N	PDE1C_ENST00000396193.1_Missense_Mutation_p.K188N|PDE1C_ENST00000321453.7_Missense_Mutation_p.K128N|PDE1C_ENST00000396182.2_Missense_Mutation_p.K128N|PDE1C_ENST00000396184.3_Missense_Mutation_p.K128N	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	128					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	GAACGATGCTCTTGAACCGGG	0.532																																						ENST00000396184.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81						c.(382-384)aaG>aaC		phosphodiesterase 1C, calmodulin-dependent 70kDa							146.0	131.0	136.0					7																	31918650		2203	4300	6503	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31918650C>G	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.384G>C	7.37:g.31918650C>G	ENSP00000379494:p.Lys128Asn					PDE1C_ENST00000321453.7_Missense_Mutation_p.K128N|PDE1C_ENST00000396193.1_Missense_Mutation_p.K188N|PDE1C_ENST00000396191.1_Missense_Mutation_p.K128N|PDE1C_ENST00000396182.2_Missense_Mutation_p.K128N	p.K128N	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		5	588	-			128					B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	c.384G>C	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060066	0.76074	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.73789	-0.78;-0.77;-0.77;-0.74;-0.74	5.6	4.53	0.55603	-cyclic nucleotide phosphodiesterase N-terminal (1);5&apos (1);3&apos (1);	0.045519	0.85682	D	0.000000	T	0.71651	0.3365	N	0.24115	0.695	0.42055	D	0.991138	P;P;D	0.53462	0.712;0.866;0.96	P;P;P	0.57244	0.71;0.809;0.816	T	0.74346	-0.3695	10	0.87932	D	0	.	9.71	0.40240	0.0:0.7886:0.0:0.2114	.	128;188;128	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	N	188;128;128;128;128	ENSP00000379496:K188N;ENSP00000379494:K128N;ENSP00000318105:K128N;ENSP00000379487:K128N;ENSP00000379485:K128N	ENSP00000318105:K128N	K	-	3	2	PDE1C	31885175	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.952000	0.29149	2.630000	0.89119	0.655000	0.94253	AAG		0.532	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			21	62	0	0	0	0.076483	0	21	62				
PCBP1	5093	broad.mit.edu	37	2	70315832	70315832	+	Silent	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:70315832G>A	ENST00000303577.5	+	1	1248	c.957G>A	c.(955-957)gtG>gtA	p.V319V	PCBP1-AS1_ENST00000413069.1_RNA|PCBP1-AS1_ENST00000439670.2_RNA|PCBP1-AS1_ENST00000610168.1_RNA|PCBP1-AS1_ENST00000425601.1_RNA|PCBP1-AS1_ENST00000595459.1_RNA|PCBP1-AS1_ENST00000444410.1_RNA|PCBP1-AS1_ENST00000415060.2_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000439892.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000609075.1_RNA|PCBP1-AS1_ENST00000601396.1_RNA|PCBP1-AS1_ENST00000458686.1_RNA|PCBP1-AS1_ENST00000420309.1_RNA|PCBP1-AS1_ENST00000449178.1_RNA|PCBP1-AS1_ENST00000594548.1_RNA|PCBP1-AS1_ENST00000429599.2_RNA|PCBP1-AS1_ENST00000437019.1_RNA|PCBP1-AS1_ENST00000432604.1_RNA|PCBP1-AS1_ENST00000416395.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000421843.1_RNA|PCBP1-AS1_ENST00000434781.1_RNA|PCBP1-AS1_ENST00000457770.1_RNA|PCBP1-AS1_ENST00000419963.1_RNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000418308.1_RNA|PCBP1-AS1_ENST00000415742.1_RNA|PCBP1-AS1_ENST00000366234.3_RNA|PCBP1-AS1_ENST00000413791.1_RNA|AC016700.2_ENST00000455541.1_lincRNA|PCBP1-AS1_ENST00000411429.1_RNA|PCBP1-AS1_ENST00000456161.1_RNA|PCBP1-AS1_ENST00000416068.1_RNA|PCBP1-AS1_ENST00000437456.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000444320.1_RNA|PCBP1-AS1_ENST00000425333.1_RNA|PCBP1-AS1_ENST00000596573.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000442040.1_RNA|PCBP1-AS1_ENST00000422515.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000458698.2_RNA|PCBP1-AS1_ENST00000596665.1_RNA|PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000599673.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	319	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						CCAACCCAGTGGAAGGCTCCT	0.512																																					Colon(85;1146 1307 3484 18706 25380)	ENST00000303577.5																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						c.(955-957)gtG>gtA		poly(rC) binding protein 1							44.0	45.0	45.0					2																	70315832		2203	4300	6503	SO:0001819	synonymous_variant	5093				nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding	g.chr2:70315832G>A		CCDS1898.1	2p13-p12	2013-07-16	2001-11-28		ENSG00000169564	ENSG00000169564			8647	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein E1"""	601209	"""poly(rC)-binding protein 1"""			8833161	Standard	NM_006196		Approved	HNRPE1, hnRNP-E1, HNRPX, hnRNP-X	uc002sgf.3	Q15365	OTTHUMG00000129645	ENST00000303577.5:c.957G>A	2.37:g.70315832G>A						PCBP1-AS1_ENST00000596028.1_RNA	p.V319V	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN			1	1248	+			319			KH 3.		Q13157|Q14975	Silent	SNP	ENST00000303577.5	37	c.957G>A	CCDS1898.1																																																																																				0.512	PCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251844.1	NM_006196		15	34	0	0	0	0.160694	0	15	34				
PC	5091	broad.mit.edu	37	11	66617476	66617476	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:66617476C>T	ENST00000393958.2	-	19	2923	c.2830G>A	c.(2830-2832)Gtg>Atg	p.V944M	PC_ENST00000529047.1_Missense_Mutation_p.V64M|PC_ENST00000528224.1_5'Flank|PC_ENST00000393955.2_Missense_Mutation_p.V944M|PC_ENST00000393960.1_Missense_Mutation_p.V944M	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	944					biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	AACTCCACCACGGAGCGGGGA	0.627																																						ENST00000393960.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2830-2832)Gtg>Atg		pyruvate carboxylase	Biotin(DB00121)|Pyruvic acid(DB00119)						58.0	58.0	58.0					11																	66617476		2200	4295	6495	SO:0001583	missense	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66617476C>T	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.2830G>A	11.37:g.66617476C>T	ENSP00000377530:p.Val944Met					PC_ENST00000393958.2_Missense_Mutation_p.V944M|PC_ENST00000529047.1_Missense_Mutation_p.V64M|PC_ENST00000393955.2_Missense_Mutation_p.V944M	p.V944M	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	20	3111	-		Melanoma(852;0.0525)	944					B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	c.2830G>A	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.429207	0.62844	.	.	ENSG00000173599	ENST00000529047;ENST00000393955;ENST00000393958;ENST00000393960	D;D;D;D	0.96992	-2.4;-4.2;-4.2;-4.2	5.19	5.19	0.71726	Carboxylase, conserved domain (1);	0.060411	0.64402	D	0.000004	D	0.98845	0.9610	H	0.97465	4.01	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99338	1.0911	10	0.87932	D	0	-32.4923	16.2579	0.82526	0.0:1.0:0.0:0.0	.	944	P11498	PYC_HUMAN	M	64;944;944;944	ENSP00000435905:V64M;ENSP00000377527:V944M;ENSP00000377530:V944M;ENSP00000377532:V944M	ENSP00000377527:V944M	V	-	1	0	PC	66374052	0.997000	0.39634	0.965000	0.40720	0.342000	0.28953	3.696000	0.54757	2.705000	0.92388	0.462000	0.41574	GTG		0.627	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		9	70	0	0	0	0.047766	0	9	70				
PPP1R11	6992	broad.mit.edu	37	6	30037047	30037047	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr6:30037047C>G	ENST00000376772.3	+	3	668	c.345C>G	c.(343-345)gaC>gaG	p.D115E	PPP1R11_ENST00000376765.2_Missense_Mutation_p.D63E|PPP1R11_ENST00000376769.2_Missense_Mutation_p.D63E|PPP1R11_ENST00000376773.1_Missense_Mutation_p.D63E|PPP1R11_ENST00000376758.1_Missense_Mutation_p.D63E|PPP1R11_ENST00000376763.1_Missense_Mutation_p.D63E	NM_021959.2	NP_068778.1	O60927	PP1RB_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 11	115	Pro-rich.					cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			lung(2)|ovary(1)|prostate(1)|skin(2)	6						AGCCTCCTGACCCTTCCCAGC	0.597																																					Pancreas(185;1767 3918 43793)	ENST00000376772.3																			0				lung(2)|ovary(1)|prostate(1)|skin(2)	6						c.(343-345)gaC>gaG		protein phosphatase 1, regulatory (inhibitor) subunit 11							74.0	86.0	81.0					6																	30037047		1509	2708	4217	SO:0001583	missense	6992					soluble fraction	protein binding|protein phosphatase inhibitor activity	g.chr6:30037047C>G	X81003	CCDS4671.1	6p21.3	2012-04-17			ENSG00000204619	ENSG00000204619		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9285	protein-coding gene	gene with protein product		606670		TCTE5		9843442, 8781118	Standard	NM_021959		Approved	HCGV, Tctex5, HCG-V	uc003npb.3	O60927	OTTHUMG00000031260	ENST00000376772.3:c.345C>G	6.37:g.30037047C>G	ENSP00000365963:p.Asp115Glu					PPP1R11_ENST00000376773.1_Missense_Mutation_p.D63E|PPP1R11_ENST00000376769.2_Missense_Mutation_p.D63E|PPP1R11_ENST00000376758.1_Missense_Mutation_p.D63E|PPP1R11_ENST00000376765.2_Missense_Mutation_p.D63E|PPP1R11_ENST00000376763.1_Missense_Mutation_p.D63E	p.D115E	NM_021959.2	NP_068778.1	O60927	PP1RB_HUMAN			3	668	+			115			Pro-rich.			Missense_Mutation	SNP	ENST00000376772.3	37	c.345C>G	CCDS4671.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569435	0.28003	.	.	ENSG00000204619	ENST00000376773;ENST00000376772;ENST00000376769;ENST00000376765;ENST00000376763;ENST00000376758	.	.	.	5.14	1.3	0.21679	.	0.578980	0.17762	N	0.162877	T	0.08223	0.0205	N	0.24115	0.695	0.24475	N	0.994372	B	0.15473	0.013	B	0.15052	0.012	T	0.40720	-0.9548	9	0.12766	T	0.61	-19.153	7.1529	0.25620	0.0:0.6245:0.0:0.3755	.	115	O60927	PP1RB_HUMAN	E	63;115;63;63;63;63	.	ENSP00000365949:D63E	D	+	3	2	PPP1R11	30145026	0.980000	0.34600	0.993000	0.49108	0.909000	0.53808	0.546000	0.23284	-0.049000	0.13379	-0.275000	0.10095	GAC		0.597	PPP1R11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076557.3	NM_021959		19	88	0	0	0	0.062417	0	19	88				
TUBGCP6	85378	broad.mit.edu	37	22	50659487	50659487	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr22:50659487G>A	ENST00000248846.5	-	16	3405	c.3301C>T	c.(3301-3303)Cgg>Tgg	p.R1101W	TUBGCP6_ENST00000439308.2_Missense_Mutation_p.R1101W|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1101	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CACCGTGGCCGAGTGGGAGCC	0.597																																						ENST00000439308.2																			0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(3301-3303)Cgg>Tgg		tubulin, gamma complex associated protein 6							161.0	161.0	161.0					22																	50659487		2203	4300	6503	SO:0001583	missense	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50659487G>A	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.3301C>T	22.37:g.50659487G>A	ENSP00000248846:p.Arg1101Trp					TUBGCP6_ENST00000248846.5_Missense_Mutation_p.R1101W|TUBGCP6_ENST00000491449.1_5'UTR	p.R1101W	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	16	3793	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1101			9 X 27 AA tandem repeats.		Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	c.3301C>T	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	g	14.09	2.432741	0.43224	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.14022	2.94;2.54	4.4	3.38	0.38709	.	0.098719	0.42172	D	0.000755	T	0.30039	0.0752	L	0.55481	1.735	0.35325	D	0.785146	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.993;0.992	T	0.36432	-0.9748	10	0.48119	T	0.1	.	12.7553	0.57331	0.0:0.0:0.7038:0.2962	.	1093;1101;1101	B2RWN4;Q96RT7;Q96RT7-3	.;GCP6_HUMAN;.	W	1101	ENSP00000248846:R1101W;ENSP00000397387:R1101W	ENSP00000248846:R1101W	R	-	1	2	TUBGCP6	49001614	0.000000	0.05858	0.889000	0.34880	0.022000	0.10575	0.732000	0.26072	1.207000	0.43291	-0.127000	0.14921	CGG		0.597	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		20	111	0	0	0	0.049695	0	20	111				
CNTN1	1272	broad.mit.edu	37	12	41374736	41374736	+	Silent	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr12:41374736G>C	ENST00000551295.2	+	16	1947	c.1830G>C	c.(1828-1830)ctG>ctC	p.L610L	CNTN1_ENST00000348761.2_Silent_p.L599L|CNTN1_ENST00000347616.1_Silent_p.L610L	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	610	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CAGGTGGTCTGAGAATAGAAG	0.413																																						ENST00000551295.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90						c.(1828-1830)ctG>ctC		contactin 1							123.0	128.0	127.0					12																	41374736		2203	4300	6503	SO:0001819	synonymous_variant	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41374736G>C	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.1830G>C	12.37:g.41374736G>C						CNTN1_ENST00000347616.1_Silent_p.L610L|CNTN1_ENST00000348761.2_Silent_p.L599L	p.L610L	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN			16	1947	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	610			Fibronectin type-III 1.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Silent	SNP	ENST00000551295.2	37	c.1830G>C	CCDS8737.1																																																																																				0.413	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		30	130	0	0	0	0.134883	0	30	130				
SHROOM1	134549	broad.mit.edu	37	5	132159668	132159668	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:132159668G>A	ENST00000378679.3	-	7	2489	c.1685C>T	c.(1684-1686)tCc>tTc	p.S562F	SHROOM1_ENST00000319854.3_Missense_Mutation_p.S562F|SHROOM1_ENST00000488072.1_5'Flank|SHROOM1_ENST00000378676.1_Missense_Mutation_p.S493F	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	562	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCTGGGCTGGGAAGCAAGAGG	0.632																																						ENST00000378679.3																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(1684-1686)tCc>tTc		shroom family member 1							44.0	47.0	46.0					5																	132159668		2203	4300	6503	SO:0001583	missense	134549				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding	g.chr5:132159668G>A	AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.1685C>T	5.37:g.132159668G>A	ENSP00000367950:p.Ser562Phe					SHROOM1_ENST00000378676.1_Missense_Mutation_p.S493F|SHROOM1_ENST00000319854.3_Missense_Mutation_p.S562F	p.S562F	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		7	2489	-			562			ASD2.		B7WP40|B7ZL01|Q8TDP0|Q8TF41	Missense_Mutation	SNP	ENST00000378679.3	37	c.1685C>T	CCDS54902.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904986	0.52333	.	.	ENSG00000164403	ENST00000378679;ENST00000319854;ENST00000378676	T;T;T	0.32272	1.46;1.46;1.46	5.07	3.18	0.36537	Apx/shroom, ASD2 (2);	0.387965	0.27645	N	0.018457	T	0.27594	0.0678	L	0.57536	1.79	0.09310	N	1	B;B	0.18013	0.02;0.025	B;B	0.20384	0.017;0.029	T	0.27606	-1.0069	10	0.87932	D	0	-5.3291	6.3846	0.21554	0.2275:0.0:0.7725:0.0	.	562;562	Q2M3G4-2;Q2M3G4	.;SHRM1_HUMAN	F	562;562;493	ENSP00000367950:S562F;ENSP00000324245:S562F;ENSP00000367947:S493F	ENSP00000324245:S562F	S	-	2	0	SHROOM1	132187567	0.751000	0.28327	0.241000	0.24154	0.759000	0.43091	2.541000	0.45735	1.374000	0.46228	-0.367000	0.07326	TCC		0.632	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1	NM_133456		18	32	0	0	0	0.175082	0	18	32				
FAT2	2196	broad.mit.edu	37	5	150946494	150946494	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:150946494G>T	ENST00000261800.5	-	1	2011	c.1999C>A	c.(1999-2001)Cct>Act	p.P667T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	667	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATGTTACAGGAACTTCAAAA	0.423																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(1999-2001)Cct>Act		FAT atypical cadherin 2							106.0	101.0	102.0					5																	150946494		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150946494G>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.1999C>A	5.37:g.150946494G>T	ENSP00000261800:p.Pro667Thr						p.P667T	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	2011	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	667			Cadherin 5.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.1999C>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	1.410	-0.575790	0.03882	.	.	ENSG00000086570	ENST00000261800	T	0.39406	1.08	5.57	5.57	0.84162	Cadherin (1);	0.410613	0.23809	N	0.044356	T	0.19366	0.0465	N	0.04959	-0.14	0.09310	N	1	B	0.15473	0.013	B	0.09377	0.004	T	0.17410	-1.0370	10	0.10636	T	0.68	.	9.5911	0.39545	0.0747:0.0:0.7731:0.1522	.	667	Q9NYQ8	FAT2_HUMAN	T	667	ENSP00000261800:P667T	ENSP00000261800:P667T	P	-	1	0	FAT2	150926687	0.403000	0.25319	0.755000	0.31263	0.979000	0.70002	1.615000	0.36922	2.785000	0.95823	0.655000	0.94253	CCT		0.423	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		22	99	1	0	3.62473e-10	0.062417	3.84006e-10	22	99				
WDR64	128025	broad.mit.edu	37	1	241850813	241850813	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:241850813C>T	ENST00000366552.2	+	7	1067	c.860C>T	c.(859-861)tCa>tTa	p.S287L	WDR64_ENST00000437684.2_Missense_Mutation_p.S287L	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	287										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			AGATATATTTCAGCCCTAAAT	0.343																																						ENST00000366552.2																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(859-861)tCa>tTa		WD repeat domain 64							102.0	107.0	105.0					1																	241850813		2203	4299	6502	SO:0001583	missense	128025							g.chr1:241850813C>T	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.860C>T	1.37:g.241850813C>T	ENSP00000355510:p.Ser287Leu					WDR64_ENST00000437684.2_Missense_Mutation_p.S287L	p.S287L	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		7	1067	+	Ovarian(103;0.103)	all_cancers(173;0.0121)	287					B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	37	c.860C>T		.	.	.	.	.	.	.	.	.	.	C	18.37	3.608166	0.66558	.	.	ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635	T;T;T	0.39406	1.55;1.08;5.46	5.53	4.54	0.55810	.	0.754568	0.11807	N	0.527589	T	0.37839	0.1018	L	0.36672	1.1	0.09310	N	1	B	0.17038	0.02	B	0.17433	0.018	T	0.28839	-1.0031	10	0.62326	D	0.03	0.1014	15.1368	0.72572	0.1504:0.8496:0.0:0.0	.	7	D1MPS4	.	L	287;287;58	ENSP00000355510:S287L;ENSP00000402446:S287L;ENSP00000406656:S58L	ENSP00000355510:S287L	S	+	2	0	WDR64	239917436	0.037000	0.19845	0.920000	0.36463	0.897000	0.52465	3.357000	0.52277	2.593000	0.87608	0.655000	0.94253	TCA		0.343	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625		20	83	0	0	0	0.043863	0	20	83				
CLOCK	9575	broad.mit.edu	37	4	56310880	56310880	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr4:56310880C>G	ENST00000309964.4	-	18	1862	c.1612G>C	c.(1612-1614)Gaa>Caa	p.E538Q	CLOCK_ENST00000513440.1_Missense_Mutation_p.E538Q|CLOCK_ENST00000381322.1_Missense_Mutation_p.E538Q	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	538	Implicated in the circadian rhythmicity. {ECO:0000250}.|Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.|Interaction with SIRT1. {ECO:0000250|UniProtKB:O08785}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			ATATTTGCTTCTATCATGCGT	0.388																																						ENST00000309964.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1612-1614)Gaa>Caa		clock circadian regulator							233.0	211.0	219.0					4																	56310880		2203	4300	6503	SO:0001583	missense	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56310880C>G	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.1612G>C	4.37:g.56310880C>G	ENSP00000308741:p.Glu538Gln					CLOCK_ENST00000513440.1_Missense_Mutation_p.E538Q|CLOCK_ENST00000381322.1_Missense_Mutation_p.E538Q	p.E538Q	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		18	1862	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		538			Implicated in the circadian rhythmicity (By similarity).		A0AV01|A2I2N9|O14516|Q9UIT8	Missense_Mutation	SNP	ENST00000309964.4	37	c.1612G>C	CCDS3500.1	.	.	.	.	.	.	.	.	.	.	C	5.903	0.350639	0.11182	.	.	ENSG00000134852	ENST00000309964;ENST00000381322;ENST00000513440	T;T;T	0.02498	4.27;4.27;4.27	6.02	5.17	0.71159	.	0.096936	0.64402	N	0.000002	T	0.02970	0.0088	L	0.28556	0.865	0.49798	D	0.999821	B	0.19073	0.033	B	0.22386	0.039	T	0.24905	-1.0147	10	0.02654	T	1	.	17.4026	0.87464	0.0:0.8753:0.1247:0.0	.	538	O15516	CLOCK_HUMAN	Q	538	ENSP00000308741:E538Q;ENSP00000370723:E538Q;ENSP00000426983:E538Q	ENSP00000308741:E538Q	E	-	1	0	CLOCK	56005637	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.438000	0.59961	1.553000	0.49476	-0.182000	0.12963	GAA		0.388	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		13	50	0	0	0	0.093190	0	13	50				
PRICKLE2	166336	broad.mit.edu	37	3	64084754	64084754	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:64084754C>A	ENST00000295902.6	-	8	3093	c.2508G>T	c.(2506-2508)caG>caT	p.Q836H	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.Q892H|PRICKLE2-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	836					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TTTTGCTCTTCTGTCTTTTCC	0.438																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(2506-2508)caG>caT		prickle homolog 2 (Drosophila)							106.0	106.0	106.0					3																	64084754		2203	4300	6503	SO:0001583	missense	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64084754C>A	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.2508G>T	3.37:g.64084754C>A	ENSP00000295902:p.Gln836His					RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.Q892H	p.Q836H	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	8	3093	-		Lung NSC(201;0.136)	836					Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	c.2508G>T	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	C	3.320	-0.138845	0.06669	.	.	ENSG00000163637	ENST00000295902	T	0.57907	0.37	5.74	-10.6	0.00265	.	0.086749	0.49916	D	0.000131	T	0.24005	0.0581	N	0.12182	0.205	0.26918	N	0.966733	P	0.43701	0.815	B	0.37198	0.243	T	0.35025	-0.9805	10	0.06099	T	0.92	-21.8629	21.9463	0.99964	0.0:0.6871:0.0:0.3129	.	836	Q7Z3G6	PRIC2_HUMAN	H	836	ENSP00000295902:Q836H	ENSP00000295902:Q836H	Q	-	3	2	PRICKLE2	64059794	0.089000	0.21612	0.362000	0.25862	0.976000	0.68499	-0.624000	0.05540	-2.332000	0.00632	-0.469000	0.05056	CAG		0.438	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		29	72	1	0	9.39395e-14	0.116897	1.00851e-13	29	72				
LHFPL1	340596	broad.mit.edu	37	X	111874751	111874751	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chrX:111874751G>C	ENST00000371968.3	-	4	799	c.560C>G	c.(559-561)tCt>tGt	p.S187C	LHFPL1_ENST00000478229.1_5'UTR|LHFPL1_ENST00000536453.1_Missense_Mutation_p.S154C	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	187						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						AGCAAAGCAAGAGAGCCAGGT	0.512																																						ENST00000371968.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						c.(559-561)tCt>tGt		lipoma HMGIC fusion partner-like 1							89.0	79.0	83.0					X																	111874751		2203	4300	6503	SO:0001583	missense	340596					integral to membrane		g.chrX:111874751G>C	AY217350	CCDS14562.1	Xq23	2008-02-05			ENSG00000182508	ENSG00000182508			6587	protein-coding gene	gene with protein product		300566				10329012	Standard	NM_178175		Approved		uc004epq.3	Q86WI0	OTTHUMG00000022214	ENST00000371968.3:c.560C>G	X.37:g.111874751G>C	ENSP00000361036:p.Ser187Cys					LHFPL1_ENST00000536453.1_Missense_Mutation_p.S154C|LHFPL1_ENST00000478229.1_5'UTR	p.S187C	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN			4	799	-			187					A8K1N1|Q496M9|Q496N0|Q6UXU2	Missense_Mutation	SNP	ENST00000371968.3	37	c.560C>G	CCDS14562.1	.	.	.	.	.	.	.	.	.	.	g	19.29	3.799847	0.70567	.	.	ENSG00000182508	ENST00000371968;ENST00000536453	T;T	0.72725	-0.68;0.29	5.19	4.3	0.51218	.	0.300009	0.38326	N	0.001739	D	0.82559	0.5063	M	0.81112	2.525	0.46028	D	0.998828	D;D	0.71674	0.998;0.998	D;D	0.69307	0.937;0.963	T	0.83271	-0.0043	10	0.49607	T	0.09	-21.3364	12.1454	0.54020	0.0:0.1693:0.8307:0.0	.	154;187	Q86WI0-2;Q86WI0	.;LHPL1_HUMAN	C	187;154	ENSP00000361036:S187C;ENSP00000444573:S154C	ENSP00000361036:S187C	S	-	2	0	LHFPL1	111761407	1.000000	0.71417	0.997000	0.53966	0.971000	0.66376	6.734000	0.74801	1.124000	0.41980	0.597000	0.82753	TCT		0.512	LHFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057947.1	NM_178175		21	74	0	0	0	0.055883	0	21	74				
TUBB4A	10382	broad.mit.edu	37	19	6495568	6495568	+	Silent	SNP	G	G	A	rs199608353		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:6495568G>A	ENST00000264071.2	-	4	1313	c.942C>T	c.(940-942)gcC>gcT	p.A314A	CTD-2396E7.10_ENST00000596027.1_RNA|TUBB4A_ENST00000540257.1_Silent_p.A314A|CTD-2396E7.9_ENST00000599292.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	314					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										GGAACACGGCGGCCACGGTCA	0.647																																						ENST00000264071.2																			0											c.(940-942)gcC>gcT		tubulin, beta 4A class IVa							85.0	77.0	80.0					19																	6495568		2203	4300	6503	SO:0001819	synonymous_variant	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6495568G>A	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.942C>T	19.37:g.6495568G>A						TUBB4A_ENST00000540257.1_Silent_p.A314A	p.A314A			P04350	TBB4_HUMAN			4	1313	-			314					B3KQP4|Q969E5	Silent	SNP	ENST00000264071.2	37	c.942C>T	CCDS12168.1																																																																																				0.647	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		24	99	0	0	0	0.083992	0	24	99				
TBC1D8	11138	broad.mit.edu	37	2	101624355	101624355	+	Silent	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:101624355G>A	ENST00000376840.4	-	20	3350	c.3351C>T	c.(3349-3351)atC>atT	p.I1117I	TBC1D8_ENST00000409318.1_Silent_p.I1132I|RPL31_ENST00000409038.1_Intron|RPL31_ENST00000409650.1_Intron|RPL31_ENST00000409028.4_Intron			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	1117				I -> T (in Ref. 4; BAF85515). {ECO:0000305}.	blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						TGTACTGATTGATCTTGGCAT	0.383																																						ENST00000409318.1																			0				breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(3394-3396)atC>atT		TBC1 domain family, member 8 (with GRAM domain)							187.0	194.0	192.0					2																	101624355		1915	4135	6050	SO:0001819	synonymous_variant	11138				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	g.chr2:101624355G>A	AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"""BUB2-like protein 1"", ""vascular Rab-GAP/TBC-containing protein"""					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.3351C>T	2.37:g.101624355G>A						RPL31_ENST00000409038.1_Intron|RPL31_ENST00000409028.4_Intron|TBC1D8_ENST00000376840.4_Silent_p.I1117I|RPL31_ENST00000409650.1_Intron	p.I1132I	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN			20	3526	-			1117					A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Silent	SNP	ENST00000376840.4	37	c.3396C>T	CCDS46375.1																																																																																				0.383	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	NM_007063		39	129	0	0	0	0.086207	0	39	129				
EFNB1	1947	broad.mit.edu	37	X	68058611	68058611	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chrX:68058611G>A	ENST00000204961.4	+	2	1060	c.280G>A	c.(280-282)Gac>Aac	p.D94N		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	94	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|embryonic pattern specification (GO:0009880)|ephrin receptor signaling pathway (GO:0048013)|neural crest cell migration (GO:0001755)|positive regulation of T cell proliferation (GO:0042102)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ephrin receptor binding (GO:0046875)			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						CACAGTTCTCGACCCCAACGT	0.567																																						ENST00000204961.4																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						c.(280-282)Gac>Aac		ephrin-B1							96.0	58.0	71.0					X																	68058611		2203	4300	6503	SO:0001583	missense	1947				cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding	g.chrX:68058611G>A	U09303	CCDS14391.1	Xq12	2011-03-09			ENSG00000090776	ENSG00000090776		"""Ephrins"""	3226	protein-coding gene	gene with protein product		300035	"""craniofrontonasal syndrome (craniofrontonasal dysplasia)"""	EPLG2, CFNS		7774950, 16526919	Standard	NM_004429		Approved	LERK2, Elk-L	uc004dxd.4	P98172	OTTHUMG00000021751	ENST00000204961.4:c.280G>A	X.37:g.68058611G>A	ENSP00000204961:p.Asp94Asn						p.D94N	NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN			2	1060	+			94					D3DVU0	Missense_Mutation	SNP	ENST00000204961.4	37	c.280G>A	CCDS14391.1	.	.	.	.	.	.	.	.	.	.	G	8.505	0.865163	0.17250	.	.	ENSG00000090776	ENST00000204961	D	0.92965	-3.14	5.03	4.09	0.47781	Cupredoxin (2);	0.045675	0.85682	D	0.000000	T	0.81889	0.4918	N	0.19112	0.55	0.51233	D	0.99991	B	0.27971	0.196	B	0.23852	0.049	T	0.75878	-0.3162	10	0.10377	T	0.69	-36.925	9.0417	0.36322	0.1202:0.0:0.8798:0.0	.	94	P98172	EFNB1_HUMAN	N	94	ENSP00000204961:D94N	ENSP00000204961:D94N	D	+	1	0	EFNB1	67975336	1.000000	0.71417	0.930000	0.37139	0.183000	0.23260	4.947000	0.63583	2.333000	0.79357	0.436000	0.28706	GAC		0.567	EFNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057029.1	NM_004429		6	12	0	0	0	0.021553	0	6	12				
NBR2	10230	broad.mit.edu	37	17	41290987	41290987	+	RNA	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr17:41290987C>T	ENST00000460115.1	+	0	490					NR_003108.1		O15453	NBR2_HUMAN	neighbor of BRCA1 gene 2 (non-protein coding)																		ccacaaccttcaccacctcta	0.463																																						ENST00000460115.1																			0																				41.0	40.0	40.0					17																	41290987		1568	3578	5146			10230							g.chr17:41290987C>T	U88573		17q21	2012-10-16	2009-08-21		ENSG00000198496	ENSG00000198496		"""Long non-coding RNAs"""	20691	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 192"""		"""neighbor of BRCA1 gene 2"""			9215675, 15777733	Standard	NR_003108		Approved	NCRNA00192	uc002idf.3	O15453	OTTHUMG00000140395		17.37:g.41290987C>T								NR_003108.1						0	490	+								Q3LRJ7	RNA	SNP	ENST00000460115.1	37																																																																																						0.463	NBR2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000277175.1	NR_003108		15	33	0	0	0	0.146539	0	15	33				
PCDHA11	56138	broad.mit.edu	37	5	140250460	140250460	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:140250460C>T	ENST00000398640.2	+	1	1772	c.1772C>T	c.(1771-1773)gCg>gTg	p.A591V	PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	591	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGTGGTGGCGAAGGTGCGC	0.682																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(1771-1773)gCg>gTg									82.0	93.0	89.0					5																	140250460		2203	4299	6502	SO:0001583	missense	56138							g.chr5:140250460C>T	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1772C>T	5.37:g.140250460C>T	ENSP00000381636:p.Ala591Val					PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron	p.A591V	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1772	+								B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.1772C>T	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.263844	0.39995	.	.	ENSG00000249158	ENST00000398640	T	0.51574	0.7	4.78	3.9	0.45041	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.42381	0.1200	L	0.45352	1.415	0.22280	N	0.999234	B;B	0.26120	0.127;0.142	B;B	0.31290	0.024;0.127	T	0.40175	-0.9577	9	0.56958	D	0.05	.	9.5143	0.39095	0.0:0.7739:0.1456:0.0804	.	591;591	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	V	591	ENSP00000381636:A591V	ENSP00000381636:A591V	A	+	2	0	PCDHA11	140230644	0.024000	0.19004	0.952000	0.39060	0.162000	0.22319	2.961000	0.49168	0.992000	0.38840	0.556000	0.70494	GCG		0.682	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		55	82	0	0	0	0.139131	0	55	82				
KALRN	8997	broad.mit.edu	37	3	123987636	123987636	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:123987636C>T	ENST00000240874.3	+	5	654	c.497C>T	c.(496-498)tCc>tTc	p.S166F	KALRN_ENST00000460856.1_Missense_Mutation_p.S166F|KALRN_ENST00000360013.3_Missense_Mutation_p.S166F	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	166	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GTGGACCCCTCCCAGCTGACG	0.577																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(496-498)tCc>tTc		kalirin, RhoGEF kinase							78.0	78.0	78.0					3																	123987636		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:123987636C>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.497C>T	3.37:g.123987636C>T	ENSP00000240874:p.Ser166Phe					KALRN_ENST00000240874.3_Missense_Mutation_p.S166F|KALRN_ENST00000460856.1_Missense_Mutation_p.S166F	p.S166F	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			5	624	+			166			CRAL-TRIO.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.497C>T	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.5|23.5	4.425297|4.425297	0.83667|0.83667	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000448253;ENST00000354186|ENST00000460856;ENST00000240874;ENST00000360013	.|D;D;D	.|0.85702	.|-2.02;-2.02;-2.02	5.46|5.46	5.46|5.46	0.80206|0.80206	.|Cellular retinaldehyde-binding/triple function, C-terminal (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.93874|0.93874	0.8040|0.8040	M|M	0.89414|0.89414	3.03|3.03	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.997;0.999	.|D;D;D	.|0.85130	.|0.997;0.996;0.996	D|D	0.94326|0.94326	0.7558|0.7558	5|10	.|0.87932	.|D	.|0	.|.	19.5125|19.5125	0.95148|0.95148	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|166;166;166	.|C9IZQ6;O60229;O60229-2	.|.;KALRN_HUMAN;.	S|F	194;144|166	.|ENSP00000418611:S166F;ENSP00000240874:S166F;ENSP00000353109:S166F	.|ENSP00000240874:S166F	P|S	+|+	1|2	0|0	KALRN|KALRN	125470326|125470326	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.841000|5.841000	0.69409|0.69409	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	CCC|TCC		0.577	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		8	47	0	0	0	0.038147	0	8	47				
CNOT6	57472	broad.mit.edu	37	5	179998330	179998330	+	Silent	SNP	G	G	A	rs34154769		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:179998330G>A	ENST00000393356.1	+	13	1783	c.1359G>A	c.(1357-1359)ggG>ggA	p.G453G	CNOT6_ENST00000261951.4_Silent_p.G453G			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	453	Nuclease domain. {ECO:0000250}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		GCTGTCATGGGAAGAATGGAA	0.403																																						ENST00000393356.1																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23						c.(1357-1359)ggG>ggA		CCR4-NOT transcription complex, subunit 6							133.0	122.0	126.0					5																	179998330		2203	4300	6503	SO:0001819	synonymous_variant	57472				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding	g.chr5:179998330G>A	AB033020	CCDS4455.1	5q35.3	2014-06-17			ENSG00000113300	ENSG00000113300			14099	protein-coding gene	gene with protein product		608951				11889047	Standard	XM_005265953		Approved	CCR4, KIAA1194, Ccr4a	uc003mlx.3	Q9ULM6	OTTHUMG00000130935	ENST00000393356.1:c.1359G>A	5.37:g.179998330G>A						CNOT6_ENST00000261951.4_Silent_p.G453G	p.G453G			Q9ULM6	CNOT6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)	13	1783	+	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	453					A7MD46|D3DWR0	Silent	SNP	ENST00000393356.1	37	c.1359G>A	CCDS4455.1																																																																																				0.403	CNOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253532.1	NM_015455		26	51	0	0	0	0.083992	0	26	51				
POLQ	10721	broad.mit.edu	37	3	121207996	121207996	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:121207996C>T	ENST00000264233.5	-	16	3910	c.3782G>A	c.(3781-3783)aGa>aAa	p.R1261K		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1261					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TATCACAGTTCTGCTTATATC	0.343								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(3781-3783)aGa>aAa	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							169.0	176.0	173.0					3																	121207996		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121207996C>T	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.3782G>A	3.37:g.121207996C>T	ENSP00000264233:p.Arg1261Lys						p.R1261K	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	3910	-			1261					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.3782G>A	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	C	3.951	-0.012169	0.07727	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.48836	0.8	5.45	-1.81	0.07882	.	0.708567	0.14998	N	0.286286	T	0.22859	0.0552	N	0.24115	0.695	0.09310	N	1	B;B	0.29988	0.085;0.264	B;B	0.33454	0.039;0.164	T	0.27434	-1.0074	10	0.06757	T	0.87	.	2.3234	0.04217	0.1181:0.3697:0.1151:0.3972	.	1261;433	O75417;O75417-2	DPOLQ_HUMAN;.	K	884;1261;1397	ENSP00000264233:R1261K	ENSP00000264233:R1261K	R	-	2	0	POLQ	122690686	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.962000	0.03841	-0.590000	0.05866	-0.253000	0.11424	AGA		0.343	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		38	151	0	0	0	0.117977	0	38	151				
HIBCH	26275	broad.mit.edu	37	2	191155142	191155142	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:191155142T>C	ENST00000359678.5	-	5	668	c.374A>G	c.(373-375)aAt>aGt	p.N125S	HIBCH_ENST00000392332.3_Missense_Mutation_p.N125S	NM_014362.3|NM_198047.2	NP_055177.2|NP_932164.1	Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	125					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	3-hydroxyisobutyryl-CoA hydrolase activity (GO:0003860)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			AACAGCATTATTCAGCATATA	0.343																																						ENST00000392332.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13						c.(373-375)aAt>aGt		3-hydroxyisobutyryl-CoA hydrolase							96.0	91.0	93.0					2																	191155142		2203	4300	6503	SO:0001583	missense	26275				branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding	g.chr2:191155142T>C	U66669	CCDS2304.1, CCDS46475.1	2q32.3	2010-04-29	2010-04-29		ENSG00000198130	ENSG00000198130	3.1.2.4		4908	protein-coding gene	gene with protein product		610690	"""3-hydroxyisobutyryl-Coenzyme A hydrolase"""			8824301	Standard	NM_014362		Approved		uc002uru.3	Q6NVY1	OTTHUMG00000132673	ENST00000359678.5:c.374A>G	2.37:g.191155142T>C	ENSP00000352706:p.Asn125Ser					HIBCH_ENST00000359678.5_Missense_Mutation_p.N125S	p.N125S			Q6NVY1	HIBCH_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)		5	513	-			125					D3DPI4|Q53GA8|Q53GF2|Q53RF7|Q53TC6|Q92931|Q9BS94	Missense_Mutation	SNP	ENST00000359678.5	37	c.374A>G	CCDS2304.1	.	.	.	.	.	.	.	.	.	.	T	15.97	2.989961	0.54041	.	.	ENSG00000198130	ENST00000392332;ENST00000359678;ENST00000409934	T;T;T	0.71698	-0.21;-0.59;-0.21	5.42	5.42	0.78866	Crotonase, core (1);	0.125184	0.64402	D	0.000001	T	0.81955	0.4932	M	0.82323	2.585	0.80722	D	1	D;D	0.58268	0.982;0.969	P;P	0.57244	0.816;0.659	D	0.85015	0.0908	10	0.87932	D	0	-6.1915	13.4616	0.61231	0.0:0.0:0.0:1.0	.	125;125	Q6NVY1-2;Q6NVY1	.;HIBCH_HUMAN	S	125;125;179	ENSP00000376144:N125S;ENSP00000352706:N125S;ENSP00000387247:N179S	ENSP00000352706:N125S	N	-	2	0	HIBCH	190863387	1.000000	0.71417	0.999000	0.59377	0.079000	0.17450	5.932000	0.70121	2.280000	0.76307	0.460000	0.39030	AAT		0.343	HIBCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255933.1			15	28	0	0	0	0.119110	0	15	28				
TMUB1	83590	broad.mit.edu	37	7	150779330	150779330	+	Silent	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:150779330C>T	ENST00000392818.3	-	2	678	c.321G>A	c.(319-321)ctG>ctA	p.L107L	FASTK_ENST00000489884.1_5'Flank|FASTK_ENST00000297532.6_5'Flank|TMUB1_ENST00000297533.4_Silent_p.L107L|TMUB1_ENST00000482202.1_Silent_p.L107L|TMUB1_ENST00000476627.1_Silent_p.L107L|FASTK_ENST00000482571.1_5'Flank|TMUB1_ENST00000462940.1_Silent_p.L107L|FASTK_ENST00000540185.1_5'Flank|FASTK_ENST00000353841.2_5'Flank	NM_031434.3	NP_113622.1	Q9BVT8	TMUB1_HUMAN	transmembrane and ubiquitin-like domain containing 1	107	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGAGGAATTTCAGCCGTAGCA	0.597																																						ENST00000392818.3																			0				endometrium(1)|lung(1)	2						c.(319-321)ctG>ctA		transmembrane and ubiquitin-like domain containing 1							119.0	143.0	135.0					7																	150779330		2203	4300	6503	SO:0001819	synonymous_variant	83590					cytoplasm|integral to membrane|nucleus		g.chr7:150779330C>T	BC000936	CCDS5920.1	7q36.1	2006-06-27	2006-06-27	2006-06-27	ENSG00000164897	ENSG00000164897			21709	protein-coding gene	gene with protein product		614792	"""chromosome 7 open reading frame 21"""	C7orf21			Standard	NM_001136044		Approved	SB144	uc003wjd.3	Q9BVT8	OTTHUMG00000158621	ENST00000392818.3:c.321G>A	7.37:g.150779330C>T						TMUB1_ENST00000482202.1_Silent_p.L107L|TMUB1_ENST00000476627.1_Silent_p.L107L|TMUB1_ENST00000297533.4_Silent_p.L107L|TMUB1_ENST00000462940.1_Silent_p.L107L	p.L107L	NM_031434.3	NP_113622.1	Q9BVT8	TMUB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	678	-			107			Ubiquitin-like.		D3DX06|Q53AQ2	Silent	SNP	ENST00000392818.3	37	c.321G>A	CCDS5920.1																																																																																				0.597	TMUB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351485.1	NM_031434		68	200	0	0	0	0.139131	0	68	200				
BHLHE40	8553	broad.mit.edu	37	3	5025027	5025027	+	Missense_Mutation	SNP	G	G	A	rs141865687		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:5025027G>A	ENST00000256495.3	+	5	1492	c.889G>A	c.(889-891)Gat>Aat	p.D297N		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	297					circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|MRF binding (GO:0043426)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						GCTTTCGGATGATGAAGGCCA	0.562																																						ENST00000256495.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						c.(889-891)Gat>Aat		basic helix-loop-helix family, member e40		G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	119.0	105.0	110.0		889	3.7	0.5	3	dbSNP_134	110	0,8600		0,0,4300	no	missense	BHLHE40	NM_003670.2	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	297/413	5025027	1,13005	2203	4300	6503	SO:0001583	missense	8553					Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr3:5025027G>A	AB004066	CCDS2565.1	3p26	2009-01-12	2009-01-12	2009-01-12	ENSG00000134107	ENSG00000134107		"""Basic helix-loop-helix proteins"""	1046	protein-coding gene	gene with protein product	"""differentially expressed in chondrocytes 1"", "" differentiated embryo chondrocyte expressed gene 1"""	604256	"""basic helix-loop-helix domain containing, class B, 2"""	STRA13, BHLHB2		9240428, 10449910, 18557763	Standard	NM_003670		Approved	DEC1, bHLHe40	uc003bqf.3	O14503	OTTHUMG00000119035	ENST00000256495.3:c.889G>A	3.37:g.5025027G>A	ENSP00000256495:p.Asp297Asn						p.D297N	NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN			5	1492	+			297					Q96TD3	Missense_Mutation	SNP	ENST00000256495.3	37	c.889G>A	CCDS2565.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921124	0.33908	2.27E-4	0.0	ENSG00000134107	ENST00000256495	T	0.40476	1.03	5.62	3.73	0.42828	.	0.534908	0.19665	N	0.108889	T	0.31482	0.0798	L	0.33485	1.01	0.44352	D	0.997246	B	0.12013	0.005	B	0.13407	0.009	T	0.08617	-1.0713	10	0.35671	T	0.21	-5.7304	12.0691	0.53605	0.0688:0.1229:0.8083:0.0	.	297	O14503	BHE40_HUMAN	N	297	ENSP00000256495:D297N	ENSP00000256495:D297N	D	+	1	0	BHLHE40	5000027	1.000000	0.71417	0.536000	0.28039	0.193000	0.23685	4.667000	0.61561	2.646000	0.89796	0.655000	0.94253	GAT		0.562	BHLHE40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239244.2	NM_003670		9	62	0	0	0	0.058154	0	9	62				
AIFM3	150209	broad.mit.edu	37	22	21322208	21322208	+	5'UTR	SNP	G	G	A	rs372042715		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr22:21322208G>A	ENST00000399167.2	+	0	216				AIFM3_ENST00000440238.2_5'UTR|AIFM3_ENST00000405089.1_5'UTR|AIFM3_ENST00000335375.5_Missense_Mutation_p.C17Y|AIFM3_ENST00000399163.2_5'UTR|AIFM3_ENST00000333607.6_5'UTR	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3						cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GCTCCTGCCTGCCGGCCATCC	0.662																																						ENST00000335375.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(49-51)tGc>tAc		apoptosis-inducing factor, mitochondrion-associated, 3		G	,,	0,4406		0,0,2203	137.0	103.0	115.0		,,	-1.0	0.0	22		115	1,8599		0,1,4299	no	utr-5,utr-5,utr-5	AIFM3	NM_001018060.2,NM_001146288.1,NM_144704.2	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	,,	21322208	1,13005	2203	4300	6503	SO:0001623	5_prime_UTR_variant	150209							g.chr22:21322208G>A	AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.-25G>A	22.37:g.21322208G>A						AIFM3_ENST00000333607.6_5'UTR|AIFM3_ENST00000399163.2_5'UTR|AIFM3_ENST00000399167.2_5'UTR|AIFM3_ENST00000440238.2_5'UTR|AIFM3_ENST00000405089.1_5'UTR	p.C17Y					LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		2	157	+	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)						B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Missense_Mutation	SNP	ENST00000399167.2	37	c.50G>A	CCDS13786.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.310632	0.40895	0.0	1.16E-4	ENSG00000183773	ENST00000335375	T	0.56444	0.46	3.59	-1.05	0.10036	.	.	.	.	.	T	0.33818	0.0876	.	.	.	0.22648	N	0.998898	B	0.02656	0.0	B	0.01281	0.0	T	0.34104	-0.9842	8	0.87932	D	0	.	0.6743	0.00864	0.3293:0.2713:0.2462:0.1532	.	17	B7Z9S7	.	Y	17	ENSP00000335369:C17Y	ENSP00000335369:C17Y	C	+	2	0	AIFM3	19652208	0.000000	0.05858	0.000000	0.03702	0.431000	0.31685	-0.192000	0.09587	-0.104000	0.12154	0.400000	0.26472	TGC		0.662	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704		10	29	0	0	0	0.093190	0	10	29				
SHANK2	22941	broad.mit.edu	37	11	70331881	70331881	+	Missense_Mutation	SNP	G	G	A	rs146717159	byFrequency	TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:70331881G>A	ENST00000423696.2	-	15	3416	c.3380C>T	c.(3379-3381)aCg>aTg	p.T1127M	SHANK2_ENST00000449833.2_Missense_Mutation_p.T911M|SHANK2_ENST00000338508.4_Missense_Mutation_p.T1507M|SHANK2_ENST00000409161.1_Missense_Mutation_p.T910M			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1127					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AGTGCTGGTCGTCTCGAGGTG	0.587													G|||	2	0.000399361	0.0015	0.0	5008	,	,		14065	0.0		0.0	False		,,,				2504	0.0					ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(4519-4521)aCg>aTg		SH3 and multiple ankyrin repeat domains 2		G	MET/THR,MET/THR	1,4399	2.1+/-5.4	0,1,2199	99.0	86.0	90.0		4371,2753	5.7	1.0	11	dbSNP_134	90	0,8588		0,0,4294	no	missense,missense	SHANK2	NM_012309.3,NM_133266.3	81,81	0,1,6493	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	1506/1850,918/1262	70331881	1,12987	2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70331881G>A	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.3380C>T	11.37:g.70331881G>A	ENSP00000394536:p.Thr1127Met					SHANK2_ENST00000409161.1_Missense_Mutation_p.T910M|SHANK2_ENST00000423696.2_Missense_Mutation_p.T1127M|SHANK2_ENST00000449833.2_Missense_Mutation_p.T911M	p.T1507M			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		32	4519	-			1127					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.4520C>T		.	.	.	.	.	.	.	.	.	.	G	22.0	4.230259	0.79688	2.27E-4	0.0	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0;2.0	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.50274	0.1606	M	0.76002	2.32	0.80722	D	1	D;D;D	0.89917	0.995;1.0;1.0	P;D;D	0.91635	0.741;0.999;0.999	T	0.49390	-0.8945	10	0.66056	D	0.02	.	19.756	0.96291	0.0:0.0:1.0:0.0	.	1127;1506;911	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	M	911;910;785;1507;1127;1145;1130	ENSP00000399423:T911M;ENSP00000386491:T910M;ENSP00000402944:T785M;ENSP00000345193:T1507M;ENSP00000394536:T1127M;ENSP00000294018:T1130M	ENSP00000294018:T1130M	T	-	2	0	SHANK2	70009529	1.000000	0.71417	0.993000	0.49108	0.999000	0.98932	9.174000	0.94824	2.665000	0.90641	0.655000	0.94253	ACG		0.587	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		27	51	0	0	0	0.099896	0	27	51				
WDR62	284403	broad.mit.edu	37	19	36558321	36558321	+	Silent	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:36558321C>T	ENST00000270301.7	+	6	675	c.675C>T	c.(673-675)ttC>ttT	p.F225F	WDR62_ENST00000378860.4_3'UTR|WDR62_ENST00000401500.2_Silent_p.F225F|WDR62_ENST00000388999.3_Silent_p.F225F			O43379	WDR62_HUMAN	WD repeat domain 62	225					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGTTCTGGTTCTTGGAAGTCT	0.532																																						ENST00000401500.2																			0				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43						c.(673-675)ttC>ttT		WD repeat domain 62							139.0	123.0	129.0					19																	36558321		2203	4300	6503	SO:0001819	synonymous_variant	284403				cerebral cortex development	nucleus		g.chr19:36558321C>T	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.675C>T	19.37:g.36558321C>T						WDR62_ENST00000378860.4_3'UTR|WDR62_ENST00000388999.3_Silent_p.F225F|WDR62_ENST00000270301.7_Silent_p.F225F	p.F225F	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		6	710	+	Esophageal squamous(110;0.162)		225					Q63HP9|Q659D7|Q8NBF7|Q96AD9	Silent	SNP	ENST00000270301.7	37	c.675C>T	CCDS33001.1																																																																																				0.532	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		8	56	0	0	0	0.047766	0	8	56				
OR2AT4	341152	broad.mit.edu	37	11	74799942	74799942	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:74799942G>A	ENST00000305159.3	-	1	857	c.817C>T	c.(817-819)Ctt>Ttt	p.L273F		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						TGGAAGTCAAGGGGCAGGTCA	0.522																																						ENST00000305159.3																			0				endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						c.(817-819)Ctt>Ttt		olfactory receptor, family 2, subfamily AT, member 4							114.0	104.0	107.0					11																	74799942		2200	4293	6493	SO:0001583	missense	341152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:74799942G>A	BK004820	CCDS31639.1	11q13.4	2012-08-09			ENSG00000171561	ENSG00000171561		"""GPCR / Class A : Olfactory receptors"""	19620	protein-coding gene	gene with protein product							Standard	NM_001005285		Approved		uc010rro.2	A6NND4	OTTHUMG00000165370	ENST00000305159.3:c.817C>T	11.37:g.74799942G>A	ENSP00000304846:p.Leu273Phe						p.L273F	NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN			1	857	-			273					B9EGZ8	Missense_Mutation	SNP	ENST00000305159.3	37	c.817C>T	CCDS31639.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.020537	0.35606	.	.	ENSG00000171561	ENST00000305159	T	0.38722	1.12	5.26	3.24	0.37175	GPCR, rhodopsin-like superfamily (1);	0.748735	0.10252	U	0.697058	T	0.46814	0.1412	L	0.31845	0.965	0.09310	N	1	P	0.49307	0.922	P	0.55713	0.782	T	0.32107	-0.9919	10	0.72032	D	0.01	.	10.0618	0.42279	0.0821:0.1383:0.7796:0.0	.	273	A6NND4	O2AT4_HUMAN	F	273	ENSP00000304846:L273F	ENSP00000304846:L273F	L	-	1	0	OR2AT4	74477590	0.000000	0.05858	0.793000	0.32043	0.889000	0.51656	-0.039000	0.12124	1.319000	0.45190	0.650000	0.86243	CTT		0.522	OR2AT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383734.1	NM_001005285		19	62	0	0	0	0.069288	0	19	62				
AVPR1B	553	broad.mit.edu	37	1	206224835	206224835	+	Missense_Mutation	SNP	G	G	A	rs41314448		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:206224835G>A	ENST00000367126.4	+	1	860	c.395G>A	c.(394-396)cGc>cAc	p.R132H	RP11-38J22.3_ENST00000425896.1_RNA	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	132					activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	ACGCTGGACCGCTACCTGGCT	0.657																																						ENST00000367126.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20						c.(394-396)cGc>cAc		arginine vasopressin receptor 1B	Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	G	HIS/ARG	0,4406		0,0,2203	54.0	52.0	53.0		395	5.2	1.0	1	dbSNP_127	53	2,8598	2.2+/-6.3	0,2,4298	no	missense	AVPR1B	NM_000707.3	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	132/425	206224835	2,13004	2203	4300	6503	SO:0001583	missense	553				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr1:206224835G>A	D31833	CCDS73015.1	1q32	2014-05-06			ENSG00000198049	ENSG00000198049		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	896	protein-coding gene	gene with protein product		600264		AVPR3		7929452, 8586456	Standard	NM_000707		Approved		uc001hds.2	P47901	OTTHUMG00000184377	ENST00000367126.4:c.395G>A	1.37:g.206224835G>A	ENSP00000356094:p.Arg132His						p.R132H	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0312)		1	860	+			132					B0M0J6|Q5TZ00	Missense_Mutation	SNP	ENST00000367126.4	37	c.395G>A	CCDS30994.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015711	0.93404	0.0	2.33E-4	ENSG00000198049	ENST00000367126	D	0.97161	-4.27	5.21	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000005	D	0.98985	0.9654	H	0.95611	3.695	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.99425	1.0934	10	0.87932	D	0	-31.1961	18.5451	0.91043	0.0:0.0:1.0:0.0	rs41314448	132	P47901	V1BR_HUMAN	H	132	ENSP00000356094:R132H	ENSP00000356094:R132H	R	+	2	0	AVPR1B	204391458	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	2.704000	0.92352	0.514000	0.50259	CGC		0.657	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087996.1	NM_000707		15	62	0	0	0	0.132662	0	15	62				
MCMDC2	157777	broad.mit.edu	37	8	67808488	67808488	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr8:67808488C>T	ENST00000422365.2	+	11	1534	c.1363C>T	c.(1363-1365)Cag>Tag	p.Q455*	MCMDC2_ENST00000541540.1_Nonsense_Mutation_p.Q392*|MCMDC2_ENST00000396592.3_Nonsense_Mutation_p.Q455*|MCMDC2_ENST00000313616.5_Nonsense_Mutation_p.Q455*	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	455					DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(2)|kidney(2)|lung(5)	9						TTTTCCAGTTCAGTGCAGTTT	0.388																																						ENST00000422365.2																			0				endometrium(2)|kidney(2)|lung(5)	9						c.(1363-1365)Cag>Tag		minichromosome maintenance domain containing 2							217.0	197.0	204.0					8																	67808488		2203	4300	6503	SO:0001587	stop_gained	157777				DNA replication		ATP binding|DNA binding	g.chr8:67808488C>T	BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 45"""	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.1363C>T	8.37:g.67808488C>T	ENSP00000413632:p.Gln455*					MCMDC2_ENST00000541540.1_Nonsense_Mutation_p.Q392*|MCMDC2_ENST00000396592.3_Nonsense_Mutation_p.Q455*|MCMDC2_ENST00000313616.5_Nonsense_Mutation_p.Q455*	p.Q455*	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN			11	1534	+			455					B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Nonsense_Mutation	SNP	ENST00000422365.2	37	c.1363C>T	CCDS6197.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.423392|5.423392	0.96111|0.96111	.|.	.|.	ENSG00000178460|ENSG00000178460	ENST00000396592;ENST00000422365;ENST00000313616;ENST00000541540|ENST00000379356	.|.	.|.	.|.	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	0.166824|.	0.53938|.	D|.	0.000044|.	.|T	.|0.76615	.|0.4012	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.79308	.|-0.1857	.|4	0.05959|0.87932	T|D	0.93|0	0.0014|0.0014	16.0955|16.0955	0.81117|0.81117	0.1344:0.8656:0.0:0.0|0.1344:0.8656:0.0:0.0	.|.	.|.	.|.	.|.	X|L	455;455;455;392|326	.|.	ENSP00000317234:Q455X|ENSP00000368661:S326L	Q|S	+|+	1|2	0|0	C8orf45|C8orf45	67971042|67971042	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.972000|3.972000	0.56838|0.56838	2.854000|2.854000	0.98071|0.98071	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.388	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347350.1	NM_173518		14	69	0	0	0	0.119110	0	14	69				
ABCD2	225	broad.mit.edu	37	12	40013386	40013386	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr12:40013386C>G	ENST00000308666.3	-	1	167	c.32G>C	c.(31-33)cGa>cCa	p.R11P		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	11	Interaction with PEX19.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						CCATTTCACTCGATCAGCTGC	0.473																																						ENST00000308666.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						c.(31-33)cGa>cCa		ATP-binding cassette, sub-family D (ALD), member 2							52.0	43.0	46.0					12																	40013386		2203	4300	6503	SO:0001583	missense	225				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	g.chr12:40013386C>G	U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.32G>C	12.37:g.40013386C>G	ENSP00000310688:p.Arg11Pro						p.R11P	NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN			1	167	-			11			Interaction with PEX19.		B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	c.32G>C	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.325771	0.41197	.	.	ENSG00000173208	ENST00000308666	D	0.94897	-3.55	4.54	4.54	0.55810	.	0.154463	0.42682	D	0.000662	D	0.84880	0.5570	N	0.08118	0	0.39531	D	0.968663	P	0.43578	0.811	B	0.33750	0.169	D	0.86050	0.1525	9	.	.	.	-0.8979	14.6143	0.68537	0.0:1.0:0.0:0.0	.	11	Q9UBJ2	ABCD2_HUMAN	P	11	ENSP00000310688:R11P	.	R	-	2	0	ABCD2	38299653	1.000000	0.71417	0.991000	0.47740	0.996000	0.88848	2.654000	0.46699	2.360000	0.80028	0.655000	0.94253	CGA		0.473	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164		4	39	0	0	0	0.150653	0	4	39				
PFKFB1	5207	broad.mit.edu	37	X	54971913	54971913	+	Nonsense_Mutation	SNP	G	G	A	rs368782445		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chrX:54971913G>A	ENST00000375006.3	-	10	1127	c.1057C>T	c.(1057-1059)Cga>Tga	p.R353*	PFKFB1_ENST00000374992.2_Nonsense_Mutation_p.R153*|PFKFB1_ENST00000545676.1_Nonsense_Mutation_p.R288*	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	353	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TCTTGGTCTCGCAGTGCAAAT	0.473																																						ENST00000375006.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						c.(1057-1059)Cga>Tga		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1							146.0	112.0	124.0					X																	54971913		2203	4300	6503	SO:0001587	stop_gained	5207				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chrX:54971913G>A		CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.1057C>T	X.37:g.54971913G>A	ENSP00000364145:p.Arg353*					PFKFB1_ENST00000374992.2_Nonsense_Mutation_p.R153*|PFKFB1_ENST00000545676.1_Nonsense_Mutation_p.R288*	p.R353*	NM_002625.2	NP_002616.2	P16118	F261_HUMAN			10	1127	-			353			Fructose-2,6-bisphosphatase.		B2RA88|B4DUN5|Q5JXS5|Q99951	Nonsense_Mutation	SNP	ENST00000375006.3	37	c.1057C>T	CCDS14364.1	.	.	.	.	.	.	.	.	.	.	G	34	5.338729	0.95783	.	.	ENSG00000158571	ENST00000375006;ENST00000545676;ENST00000374992	.	.	.	4.93	4.06	0.47325	.	0.107357	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.1735	6.9299	0.24435	0.0941:0.0:0.7334:0.1725	.	.	.	.	X	353;288;153	.	ENSP00000364131:R153X	R	-	1	2	PFKFB1	54988638	1.000000	0.71417	0.986000	0.45419	0.984000	0.73092	2.713000	0.47194	0.999000	0.39023	0.556000	0.70494	CGA		0.473	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1			7	19	0	0	0	0.038147	0	7	19				
NCOA3	8202	broad.mit.edu	37	20	46256365	46256365	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr20:46256365G>A	ENST00000371998.3	+	7	784	c.593G>A	c.(592-594)cGt>cAt	p.R198H	NCOA3_ENST00000371997.3_Missense_Mutation_p.R198H|NCOA3_ENST00000341724.6_Missense_Mutation_p.R198H|NCOA3_ENST00000497292.1_3'UTR|NCOA3_ENST00000372004.3_Missense_Mutation_p.R198H			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	198					androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TTTAATTGCCGTATGTTGATG	0.383																																						ENST00000372004.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(592-594)cGt>cAt		nuclear receptor coactivator 3							110.0	107.0	108.0					20																	46256365		2203	4300	6503	SO:0001583	missense	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46256365G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.593G>A	20.37:g.46256365G>A	ENSP00000361066:p.Arg198His					NCOA3_ENST00000371997.3_Missense_Mutation_p.R198H|NCOA3_ENST00000341724.6_Missense_Mutation_p.R198H|NCOA3_ENST00000497292.1_3'UTR|NCOA3_ENST00000371998.3_Missense_Mutation_p.R198H	p.R198H	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			7	809	+			198					A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	c.593G>A	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	G	32	5.142285	0.94560	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.04156	3.72;3.8;3.81;3.69	6.16	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.18841	0.0452	L	0.60904	1.88	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.998;0.999	T	0.00281	-1.1851	10	0.87932	D	0	-18.2732	15.6785	0.77349	0.0653:0.0:0.9347:0.0	.	198;202;198;198;198	Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;NCOA3_HUMAN	H	198	ENSP00000342123:R198H;ENSP00000361073:R198H;ENSP00000361066:R198H;ENSP00000361065:R198H	ENSP00000345671:R198H	R	+	2	0	NCOA3	45689772	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.007000	0.88571	1.621000	0.50320	0.650000	0.86243	CGT		0.383	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		24	60	0	0	0	0.076483	0	24	60				
ERBB2IP	55914	broad.mit.edu	37	5	65339965	65339965	+	Splice_Site	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:65339965G>A	ENST00000284037.5	+	17	1818	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	ERBB2IP_ENST00000380939.2_Splice_Site_p.E477K|ERBB2IP_ENST00000380938.2_Splice_Site_p.E477K|ERBB2IP_ENST00000380943.2_Splice_Site_p.E477K|ERBB2IP_ENST00000380936.1_Splice_Site_p.E477K|ERBB2IP_ENST00000508515.1_Splice_Site_p.E477K|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000506030.1_Splice_Site_p.E477K|ERBB2IP_ENST00000511297.1_Splice_Site_p.E477K|ERBB2IP_ENST00000380935.1_Splice_Site_p.E477K	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	477					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		ATTTCTCTAGGAGGGAAATTT	0.284																																						ENST00000284037.5																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36						c.e17-1		erbb2 interacting protein							51.0	55.0	53.0					5																	65339965		2202	4298	6500	SO:0001630	splice_region_variant	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65339965G>A		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.1429-1G>A	5.37:g.65339965G>A						ERBB2IP_ENST00000508515.1_Splice_Site_p.E477_splice|ERBB2IP_ENST00000380939.2_Splice_Site_p.E477_splice|ERBB2IP_ENST00000380935.1_Splice_Site_p.E477_splice|ERBB2IP_ENST00000380936.1_Splice_Site_p.E477_splice|ERBB2IP_ENST00000380938.2_Splice_Site_p.E477_splice|ERBB2IP_ENST00000380943.2_Splice_Site_p.E477_splice|ERBB2IP_ENST00000511297.1_Splice_Site_p.E477_splice|ERBB2IP_ENST00000506030.1_Splice_Site_p.E477_splice|ERBB2IP_ENST00000416865.2_Intron	p.E477_splice	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	17	1818	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	477					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Splice_Site	SNP	ENST00000284037.5	37	c.1428_splice	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797999	0.90538	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T	0.41065	1.21;1.21;1.22;1.41;1.01;1.29;1.21;1.25;1.01	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.53965	0.1829	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.997;0.998;0.999;0.997;0.999;0.999	D;D;D;D;D;D;D	0.91635	0.999;0.937;0.993;0.991;0.985;0.984;0.994	T	0.51092	-0.8749	9	.	.	.	.	17.8843	0.88849	0.0:0.0:1.0:0.0	.	477;477;477;477;477;477;477	Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;LAP2_HUMAN;.;.	K	477	ENSP00000284037:E477K;ENSP00000370330:E477K;ENSP00000370326:E477K;ENSP00000370323:E477K;ENSP00000370322:E477K;ENSP00000370325:E477K;ENSP00000422766:E477K;ENSP00000426632:E477K;ENSP00000422015:E477K	.	E	+	1	0	ERBB2IP	65375721	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.420000	0.97426	2.289000	0.77006	0.563000	0.77884	GAG		0.284	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695	Missense_Mutation	10	37	0	0	0	0.069234	0	10	37				
PCDHGA11	56105	broad.mit.edu	37	5	140800862	140800862	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:140800862C>T	ENST00000398587.2	+	1	101	c.68C>T	c.(67-69)aCg>aTg	p.T23M	PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.T23M|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	23					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCTGGGGACGCTGCGGGGG	0.622																																						ENST00000398587.2																			0				breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49						c.(67-69)aCg>aTg									14.0	19.0	17.0					5																	140800862		1955	4160	6115	SO:0001583	missense	56105							g.chr5:140800862C>T	AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.68C>T	5.37:g.140800862C>T	ENSP00000381589:p.Thr23Met					PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.T23M|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.T23M	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	101	+								B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	ENST00000398587.2	37	c.68C>T	CCDS47294.1	.	.	.	.	.	.	.	.	.	.	c	6.744	0.506070	0.12883	.	.	ENSG00000253873	ENST00000398587;ENST00000518882	T;T	0.52754	0.87;0.65	6.08	2.96	0.34315	.	5.765620	0.03940	U	0.286665	T	0.40015	0.1100	L	0.31157	0.91	0.09310	N	1	B;B;B	0.22480	0.042;0.07;0.029	B;B;B	0.14023	0.007;0.01;0.006	T	0.28618	-1.0038	10	0.35671	T	0.21	.	11.089	0.48104	0.0:0.7695:0.0:0.2305	.	23;23;23	Q9Y5H2;Q9Y5H2-3;Q9Y5H2-2	PCDGB_HUMAN;.;.	M	23	ENSP00000381589:T23M;ENSP00000428333:T23M	ENSP00000381589:T23M	T	+	2	0	PCDHGA11	140781046	0.000000	0.05858	0.810000	0.32431	0.793000	0.44817	-0.130000	0.10498	0.909000	0.36697	-0.216000	0.12614	ACG		0.622	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914		4	25	0	0	0	0.150653	0	4	25				
SUPT7L	9913	broad.mit.edu	37	2	27880482	27880482	+	Silent	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:27880482G>C	ENST00000337768.5	-	4	1043	c.474C>G	c.(472-474)ctC>ctG	p.L158L	SUPT7L_ENST00000405491.1_Silent_p.L156L|SUPT7L_ENST00000404798.2_Silent_p.L23L|SUPT7L_ENST00000464789.2_Silent_p.L156L|SUPT7L_ENST00000406540.1_Silent_p.L156L	NM_001282729.1|NM_014860.1	NP_001269658.1|NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	158					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|maintenance of protein location in nucleus (GO:0051457)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					CTGCCTGGTAGAGGAGCTGCC	0.532																																						ENST00000337768.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16						c.(472-474)ctC>ctG		suppressor of Ty 7 (S. cerevisiae)-like							36.0	38.0	37.0					2																	27880482		1998	4158	6156	SO:0001819	synonymous_variant	9913				histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:27880482G>C	AF197954	CCDS42667.1, CCDS62885.1, CCDS62886.1	2p23.3	2008-02-05			ENSG00000119760	ENSG00000119760			30632	protein-coding gene	gene with protein product		612762				9872452, 11564863	Standard	NM_001282732		Approved	STAF65, gamma, KIAA0764, SPT7L	uc002rli.1	O94864	OTTHUMG00000151947	ENST00000337768.5:c.474C>G	2.37:g.27880482G>C						SUPT7L_ENST00000405491.1_Silent_p.L156L|SUPT7L_ENST00000404798.2_Silent_p.L23L|SUPT7L_ENST00000464789.2_Silent_p.L156L|SUPT7L_ENST00000406540.1_Silent_p.L156L	p.L158L	NM_014860.1	NP_055675.1	O94864	ST65G_HUMAN			4	1043	-	Acute lymphoblastic leukemia(172;0.155)		158					B4E3W3|Q6IB21|Q9H2T6	Silent	SNP	ENST00000337768.5	37	c.474C>G	CCDS42667.1																																																																																				0.532	SUPT7L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324568.1	NM_014860		8	30	0	0	0	0.058154	0	8	30				
PARP8	79668	broad.mit.edu	37	5	50055555	50055555	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:50055555G>A	ENST00000281631.5	+	4	421	c.263G>A	c.(262-264)aGa>aAa	p.R88K	PARP8_ENST00000514067.2_Missense_Mutation_p.R88K|PARP8_ENST00000511363.2_Intron|PARP8_ENST00000505554.1_Missense_Mutation_p.R67K|PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000505697.2_Missense_Mutation_p.R88K|PARP8_ENST00000503750.2_Missense_Mutation_p.R88K	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	88						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				ATTTTTCATAGAATAGCAACA	0.259																																						ENST00000281631.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(262-264)aGa>aAa		poly (ADP-ribose) polymerase family, member 8							58.0	64.0	62.0					5																	50055555		2198	4276	6474	SO:0001583	missense	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50055555G>A	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.263G>A	5.37:g.50055555G>A	ENSP00000281631:p.Arg88Lys					PARP8_ENST00000505697.2_Missense_Mutation_p.R88K|PARP8_ENST00000503750.2_Missense_Mutation_p.R88K|PARP8_ENST00000505554.1_Missense_Mutation_p.R67K|PARP8_ENST00000511363.2_Intron|PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000514067.2_Missense_Mutation_p.R88K	p.R88K	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN			4	421	+		Lung NSC(810;0.0305)|Breast(144;0.222)	88					Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	c.263G>A	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062775	0.55432	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000281631;ENST00000514067;ENST00000503046;ENST00000505554	.	.	.	5.31	3.44	0.39384	.	0.146179	0.43260	N	0.000587	T	0.38957	0.1060	N	0.22421	0.69	0.80722	D	1	B;B	0.13594	0.0;0.008	B;B	0.13407	0.001;0.009	T	0.10451	-1.0629	8	.	.	.	-6.2296	9.2922	0.37793	0.1874:0.0:0.8126:0.0	.	88;88	Q8N3A8-2;Q8N3A8	.;PARP8_HUMAN	K	88;88;88;88;88;67	.	.	R	+	2	0	PARP8	50091312	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.710000	0.61873	0.667000	0.31107	-0.345000	0.07892	AGA		0.259	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		9	48	0	0	0	0.058154	0	9	48				
TST	7263	broad.mit.edu	37	22	37407206	37407206	+	Silent	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr22:37407206G>A	ENST00000403892.3	-	2	1490	c.756C>T	c.(754-756)gtC>gtT	p.V252V	Y_RNA_ENST00000516603.1_RNA|TST_ENST00000249042.3_Silent_p.V252V	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase (rhodanese)	252	Rhodanese 2. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cellular nitrogen compound metabolic process (GO:0034641)|cyanate catabolic process (GO:0009440)|epithelial cell differentiation (GO:0030855)|rRNA import into mitochondrion (GO:0035928)|rRNA transport (GO:0051029)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5S rRNA binding (GO:0008097)|thiosulfate sulfurtransferase activity (GO:0004792)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						GGCAGGCGGTGACTCCCTTGC	0.642																																						ENST00000403892.3																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						c.(754-756)gtC>gtT		thiosulfate sulfurtransferase (rhodanese)							48.0	37.0	41.0					22																	37407206		2203	4300	6503	SO:0001819	synonymous_variant	7263				cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity	g.chr22:37407206G>A	Z73420	CCDS13938.1	22q13.1	2002-02-05			ENSG00000128311	ENSG00000128311	2.8.1.1		12388	protein-coding gene	gene with protein product		180370				1953758	Standard	NM_003312		Approved	RDS	uc003aqh.4	Q16762	OTTHUMG00000150533	ENST00000403892.3:c.756C>T	22.37:g.37407206G>A						TST_ENST00000249042.3_Silent_p.V252V	p.V252V	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN			2	1490	-			252			Rhodanese 2.		B3KRM1|Q6IB06	Silent	SNP	ENST00000403892.3	37	c.756C>T	CCDS13938.1																																																																																				0.642	TST-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318790.1			5	30	0	0	0	0.021553	0	5	30				
FAT1	2195	broad.mit.edu	37	4	187541201	187541201	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr4:187541201G>A	ENST00000441802.2	-	10	6748	c.6539C>T	c.(6538-6540)cCt>cTt	p.P2180L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2180	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTCAAACACAGGCATGGCTTT	0.483										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(6538-6540)cCt>cTt		FAT atypical cadherin 1							71.0	70.0	70.0					4																	187541201		1959	4144	6103	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187541201G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.6539C>T	4.37:g.187541201G>A	ENSP00000406229:p.Pro2180Leu	HNSCC(5;0.00058)					p.P2180L	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	6748	-			2180			Cadherin 19.			Missense_Mutation	SNP	ENST00000441802.2	37	c.6539C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.876206	0.51801	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	D	0.85088	-1.94	5.05	5.05	0.67936	Cadherin (2);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.95793	0.8631	H	0.98577	4.27	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97504	1.0062	10	0.87932	D	0	.	18.5902	0.91208	0.0:0.0:1.0:0.0	.	2180	Q14517	FAT1_HUMAN	L	2180;2182	ENSP00000406229:P2180L	ENSP00000260147:P2182L	P	-	2	0	FAT1	187778195	1.000000	0.71417	0.976000	0.42696	0.036000	0.12997	9.657000	0.98554	2.619000	0.88677	0.655000	0.94253	CCT		0.483	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		9	51	0	0	0	0.047766	0	9	51				
NCBP2	22916	broad.mit.edu	37	3	196664450	196664450	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:196664450G>C	ENST00000321256.5	-	3	423	c.330C>G	c.(328-330)atC>atG	p.I110M	NCBP2-AS1_ENST00000447775.1_RNA|NCBP2_ENST00000447325.1_Missense_Mutation_p.I40M|NCBP2_ENST00000467803.1_5'UTR|NCBP2_ENST00000422610.1_Missense_Mutation_p.I40M|NCBP2_ENST00000427641.2_Missense_Mutation_p.I57M|NCBP2_ENST00000452404.2_Missense_Mutation_p.I92M	NM_007362.3	NP_031388.2	P52298	NCBP2_HUMAN	nuclear cap binding protein subunit 2, 20kDa	110	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of RNA export from nucleus (GO:0046833)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|RNA cap binding (GO:0000339)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)		CTGTGCGAATGATTCGGTCAT	0.532																																						ENST00000447325.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						c.(118-120)atC>atG		nuclear cap binding protein subunit 2, 20kDa							123.0	110.0	114.0					3																	196664450		2203	4300	6503	SO:0001583	missense	22916				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of RNA export from nucleus|positive regulation of viral transcription|regulation of translational initiation|snRNA export from nucleus|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm	nucleotide binding|protein binding|RNA 7-methylguanosine cap binding	g.chr3:196664450G>C	D59253	CCDS3323.1, CCDS46986.1	3q29	2013-02-12	2002-08-29		ENSG00000114503	ENSG00000114503		"""RNA binding motif (RRM) containing"""	7659	protein-coding gene	gene with protein product		605133	"""nuclear cap binding protein subunit 2, 20kD"""			7478990, 7651522, 8682299	Standard	NM_001042540		Approved	NIP1, CBP20, Cbc2	uc003fxd.1	P52298	OTTHUMG00000155520	ENST00000321256.5:c.330C>G	3.37:g.196664450G>C	ENSP00000326806:p.Ile110Met					NCBP2_ENST00000467803.1_5'UTR|NCBP2_ENST00000427641.2_Missense_Mutation_p.I57M|NCBP2_ENST00000422610.1_Missense_Mutation_p.I40M|NCBP2_ENST00000452404.2_Missense_Mutation_p.I92M|NCBP2_ENST00000321256.5_Missense_Mutation_p.I110M	p.I40M			P52298	NCBP2_HUMAN	Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)	3	469	-	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		110			RRM.		B2RE91|B4DMK7|E9PAR5|Q14924|Q2TS50	Missense_Mutation	SNP	ENST00000321256.5	37	c.120C>G	CCDS3323.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.931968	0.73442	.	.	ENSG00000114503	ENST00000447325;ENST00000321256;ENST00000427641;ENST00000452404;ENST00000422610;ENST00000411704	T;T;T;T;T;T	0.74737	-0.87;2.37;-0.87;2.37;-0.87;-0.87	4.96	3.13	0.36017	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.77425	0.4128	L	0.52364	1.645	0.58432	D	0.999998	P;D;P	0.58620	0.804;0.983;0.905	P;P;P	0.61201	0.577;0.885;0.838	T	0.77507	-0.2562	10	0.66056	D	0.02	.	7.4631	0.27306	0.0798:0.0:0.6224:0.2978	.	92;57;110	P52298-2;E9PAR5;P52298	.;.;NCBP2_HUMAN	M	40;110;57;92;40;40	ENSP00000413518:I40M;ENSP00000326806:I110M;ENSP00000397619:I57M;ENSP00000412785:I92M;ENSP00000394105:I40M;ENSP00000389315:I40M	ENSP00000326806:I110M	I	-	3	3	NCBP2	198148847	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.489000	0.53237	1.435000	0.47434	0.655000	0.94253	ATC		0.532	NCBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340470.2	NM_007362		25	69	0	0	0	0.108266	0	25	69				
PHYH	5264	broad.mit.edu	37	10	13323083	13323083	+	Missense_Mutation	SNP	C	C	T	rs538686726		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr10:13323083C>T	ENST00000263038.4	-	8	914	c.856G>A	c.(856-858)Gat>Aat	p.D286N	PHYH_ENST00000396920.3_Missense_Mutation_p.D269N|PHYH_ENST00000396913.2_Missense_Mutation_p.D186N	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	286					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TAGTGGCAATCGGCACTGGCG	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		19922	0.0		0.0	False		,,,				2504	0.001					ENST00000396920.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25						c.(805-807)Gat>Aat		phytanoyl-CoA 2-hydroxylase	Antihemophilic Factor(DB00025)|Vitamin C(DB00126)						126.0	111.0	116.0					10																	13323083		2203	4300	6503	SO:0001583	missense	5264				fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding	g.chr10:13323083C>T		CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"""Refsum disease"", ""phytanoyl-CoA dioxygenase"""	602026	"""phytanoyl-CoA hydroxylase (Refsum disease)"", ""phytanoyl-CoA hydroxylase"""			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.856G>A	10.37:g.13323083C>T	ENSP00000263038:p.Asp286Asn					PHYH_ENST00000396913.2_Missense_Mutation_p.D186N|PHYH_ENST00000263038.4_Missense_Mutation_p.D286N	p.D269N			O14832	PAHX_HUMAN			8	1209	-		Ovarian(717;0.0448)	286		N -> H (in RD).			A8MTS8|B1ALH5	Missense_Mutation	SNP	ENST00000263038.4	37	c.805G>A	CCDS7097.1	.	.	.	.	.	.	.	.	.	.	C	7.462	0.644955	0.14451	.	.	ENSG00000107537	ENST00000396913;ENST00000263038;ENST00000396920	D;D;D	0.91295	-2.82;-2.82;-2.82	5.47	-7.8	0.01214	.	0.552470	0.20628	N	0.088648	T	0.79516	0.4459	L	0.35341	1.055	0.20307	N	0.999914	B;B	0.19073	0.033;0.033	B;B	0.15052	0.012;0.012	T	0.60672	-0.7217	10	0.27785	T	0.31	-5.1861	9.7798	0.40640	0.0:0.4057:0.0886:0.5057	.	269;286	B1ALH6;O14832	.;PAHX_HUMAN	N	186;286;269	ENSP00000380121:D186N;ENSP00000263038:D286N;ENSP00000380126:D269N	ENSP00000263038:D286N	D	-	1	0	PHYH	13363089	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.200000	0.09478	-1.788000	0.01266	0.591000	0.81541	GAT		0.433	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046845.2			15	58	0	0	0	0.146539	0	15	58				
TACR3	6870	broad.mit.edu	37	4	104640753	104640753	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr4:104640753G>A	ENST00000304883.2	-	1	220	c.80C>T	c.(79-81)tCg>tTg	p.S27L		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	27					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GGCAGCTAGCGAGGCGGTCAG	0.682																																						ENST00000304883.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(79-81)tCg>tTg		tachykinin receptor 3							35.0	41.0	39.0					4																	104640753		2202	4298	6500	SO:0001583	missense	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104640753G>A	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.80C>T	4.37:g.104640753G>A	ENSP00000303325:p.Ser27Leu						p.S27L	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	1	220	-		Hepatocellular(203;0.217)	27					Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	c.80C>T	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.229969	0.39399	.	.	ENSG00000169836	ENST00000304883	T	0.65549	-0.16	3.79	1.91	0.25777	.	2.401710	0.02268	N	0.068206	T	0.47173	0.1431	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38824	-0.9643	10	0.56958	D	0.05	.	3.3382	0.07108	0.2085:0.0:0.5679:0.2236	.	27	P29371	NK3R_HUMAN	L	27	ENSP00000303325:S27L	ENSP00000303325:S27L	S	-	2	0	TACR3	104860202	0.000000	0.05858	0.015000	0.15790	0.309000	0.27889	-0.260000	0.08708	0.741000	0.32674	0.313000	0.20887	TCG		0.682	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		10	35	0	0	0	0.058154	0	10	35				
PTPRM	5797	broad.mit.edu	37	18	7955287	7955287	+	Missense_Mutation	SNP	C	C	T	rs150274533	byFrequency	TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr18:7955287C>T	ENST00000332175.8	+	7	2044	c.1007C>T	c.(1006-1008)aCg>aTg	p.T336M	PTPRM_ENST00000400060.4_Missense_Mutation_p.T336M|PTPRM_ENST00000580170.1_Missense_Mutation_p.T336M|PTPRM_ENST00000400053.4_Missense_Mutation_p.T274M|PTPRM_ENST00000444013.1_Missense_Mutation_p.T123M	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	336	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GTCGATTCCACGAGCTATAAA	0.572													C|||	3	0.000599042	0.0023	0.0	5008	,	,		16751	0.0		0.0	False		,,,				2504	0.0					ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(1006-1008)aCg>aTg		protein tyrosine phosphatase, receptor type, M		C	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	53.0	52.0	52.0		1007,1007	6.0	0.9	18	dbSNP_134	52	0,8600		0,0,4300	yes	missense,missense	PTPRM	NM_001105244.1,NM_002845.3	81,81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	336/1466,336/1453	7955287	1,13005	2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:7955287C>T	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.1007C>T	18.37:g.7955287C>T	ENSP00000331418:p.Thr336Met					PTPRM_ENST00000400060.4_Missense_Mutation_p.T336M|PTPRM_ENST00000400053.4_Missense_Mutation_p.T274M|PTPRM_ENST00000580170.1_Missense_Mutation_p.T336M|PTPRM_ENST00000444013.1_Missense_Mutation_p.T123M	p.T336M	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			7	2044	+		Colorectal(10;0.234)	336			Fibronectin type-III 1.		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.1007C>T	CCDS11840.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.78	2.040203	0.35989	2.27E-4	0.0	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	6.02	6.02	0.97574	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.156200	0.56097	D	0.000027	T	0.48926	0.1527	N	0.22421	0.69	0.43347	D	0.995409	P;P;P	0.46327	0.869;0.876;0.876	B;B;B	0.44044	0.404;0.439;0.439	T	0.49615	-0.8921	10	0.48119	T	0.1	.	15.2786	0.73764	0.1401:0.8599:0.0:0.0	.	123;336;336	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	M	336;336;274;123	ENSP00000331418:T336M;ENSP00000382933:T336M;ENSP00000382927:T274M;ENSP00000387608:T123M	ENSP00000331418:T336M	T	+	2	0	PTPRM	7945287	1.000000	0.71417	0.941000	0.38009	0.760000	0.43138	4.720000	0.61944	2.865000	0.98341	0.655000	0.94253	ACG		0.572	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			6	30	0	0	0	0.021553	0	6	30				
TTBK1	84630	broad.mit.edu	37	6	43230734	43230734	+	Silent	SNP	C	C	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr6:43230734C>A	ENST00000259750.4	+	13	1715	c.1632C>A	c.(1630-1632)gtC>gtA	p.V544V	TTBK1_ENST00000304139.5_Silent_p.V493V	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	544					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			AAGAGTGGGTCATCATCGACA	0.642																																						ENST00000259750.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1630-1632)gtC>gtA		tau tubulin kinase 1							94.0	67.0	76.0					6																	43230734		2203	4300	6503	SO:0001819	synonymous_variant	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43230734C>A	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.1632C>A	6.37:g.43230734C>A						TTBK1_ENST00000304139.5_Silent_p.V493V	p.V544V	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		13	1715	+			544					A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Silent	SNP	ENST00000259750.4	37	c.1632C>A	CCDS34455.1																																																																																				0.642	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			10	10	1	0	1.58986e-06	0.069234	1.65697e-06	10	10				
FZD8	8325	broad.mit.edu	37	10	35928655	35928655	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr10:35928655G>A	ENST00000374694.1	-	1	1707	c.1703C>T	c.(1702-1704)cCg>cTg	p.P568L	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	568					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						CCGCAGGCACGGGCAGTTGTG	0.672																																						ENST00000374694.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						c.(1702-1704)cCg>cTg		frizzled family receptor 8							37.0	37.0	37.0					10																	35928655		2200	4296	6496	SO:0001583	missense	8325				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr10:35928655G>A	AB043703	CCDS7192.1	10p11.2	2014-01-29	2014-01-29		ENSG00000177283	ENSG00000177283		"""GPCR / Class F : Frizzled receptors"""	4046	protein-coding gene	gene with protein product		606146	"""frizzled (Drosophila) homolog 8"", ""frizzled homolog 8 (Drosophila)"", ""frizzled 8, seven transmembrane spanning receptor"", ""frizzled family receptor 8"""			11295046	Standard	NM_031866		Approved		uc001iyz.1	Q9H461	OTTHUMG00000017956	ENST00000374694.1:c.1703C>T	10.37:g.35928655G>A	ENSP00000363826:p.Pro568Leu						p.P568L	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN			1	1707	-			568						Missense_Mutation	SNP	ENST00000374694.1	37	c.1703C>T	CCDS7192.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.838591	0.51057	.	.	ENSG00000177283	ENST00000374694	D	0.81499	-1.5	3.25	3.25	0.37280	GPCR, family 2-like (1);	0.402918	0.22730	U	0.056333	T	0.79862	0.4519	M	0.80183	2.485	0.58432	D	0.999997	P	0.36483	0.555	B	0.33799	0.17	T	0.82135	-0.0607	10	0.41790	T	0.15	.	14.6096	0.68507	0.0:0.0:1.0:0.0	.	568	Q9H461	FZD8_HUMAN	L	568	ENSP00000363826:P568L	ENSP00000363826:P568L	P	-	2	0	FZD8	35968661	1.000000	0.71417	0.988000	0.46212	0.861000	0.49209	6.005000	0.70716	1.807000	0.52817	0.289000	0.19496	CCG		0.672	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047575.2	NM_031866		12	35	0	0	0	0.080935	0	12	35				
SPAG17	200162	broad.mit.edu	37	1	118583431	118583431	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:118583431G>C	ENST00000336338.5	-	22	3153	c.3088C>G	c.(3088-3090)Caa>Gaa	p.Q1030E		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1030						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CCTGAGATTTGAGTGGGTATA	0.363																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(3088-3090)Caa>Gaa		sperm associated antigen 17							126.0	110.0	116.0					1																	118583431		2203	4299	6502	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118583431G>C		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.3088C>G	1.37:g.118583431G>C	ENSP00000337804:p.Gln1030Glu						p.Q1030E	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	22	3153	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1030					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.3088C>G	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465799	0.43839	.	.	ENSG00000155761	ENST00000336338	T	0.28895	1.59	5.7	5.7	0.88788	.	0.271361	0.36665	N	0.002471	T	0.16085	0.0387	L	0.54323	1.7	0.25376	N	0.988655	P	0.46142	0.873	B	0.36464	0.225	T	0.11372	-1.0590	10	0.66056	D	0.02	.	13.8089	0.63250	0.0:0.0:0.8473:0.1526	.	1030	Q6Q759	SPG17_HUMAN	E	1030	ENSP00000337804:Q1030E	ENSP00000337804:Q1030E	Q	-	1	0	SPAG17	118384954	1.000000	0.71417	0.884000	0.34674	0.246000	0.25737	3.406000	0.52637	2.691000	0.91804	0.557000	0.71058	CAA		0.363	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		8	44	0	0	0	0.038147	0	8	44				
NCAPH	23397	broad.mit.edu	37	2	97035215	97035215	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:97035215C>G	ENST00000240423.4	+	17	2186	c.2143C>G	c.(2143-2145)Ctc>Gtc	p.L715V	NCAPH_ENST00000427946.1_Missense_Mutation_p.L579V|NCAPH_ENST00000455200.1_Missense_Mutation_p.L704V	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	715					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				TTTTGCCTGTCTCCTACATTT	0.428																																						ENST00000455200.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2110-2112)Ctc>Gtc		non-SMC condensin I complex, subunit H							184.0	171.0	175.0					2																	97035215		2203	4300	6503	SO:0001583	missense	23397				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		g.chr2:97035215C>G	BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"""barren (Drosophila) homolog"", ""barren homolog (Drosophila)"", ""barren homolog 1 (Drosophila)"""	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.2143C>G	2.37:g.97035215C>G	ENSP00000240423:p.Leu715Val					NCAPH_ENST00000240423.4_Missense_Mutation_p.L715V|NCAPH_ENST00000427946.1_Missense_Mutation_p.L579V	p.L704V			Q15003	CND2_HUMAN			17	2405	+		Ovarian(717;0.0221)	715					B4E189|Q8TB87	Missense_Mutation	SNP	ENST00000240423.4	37	c.2110C>G	CCDS2021.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.4|25.4	4.633755|4.633755	0.87660|0.87660	.|.	.|.	ENSG00000121152|ENSG00000121152	ENST00000240423;ENST00000427946;ENST00000455200|ENST00000435349	T;T;T|.	0.54675|.	0.56;0.56;0.56|.	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71350|0.71350	0.3329|0.3329	L|L	0.58101|0.58101	1.795|1.795	0.58432|0.58432	D|D	0.999994|0.999994	D;D|.	0.89917|.	0.992;1.0|.	D;D|.	0.91635|.	0.962;0.999|.	T|T	0.68868|0.68868	-0.5295|-0.5295	10|5	0.27082|.	T|.	0.32|.	-14.8772|-14.8772	16.807|16.807	0.85708|0.85708	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	691;715|.	B4DRG7;Q15003|.	.;CND2_HUMAN|.	V|C	715;579;704|155	ENSP00000240423:L715V;ENSP00000400774:L579V;ENSP00000407308:L704V|.	ENSP00000240423:L715V|.	L|S	+|+	1|2	0|0	NCAPH|NCAPH	96398942|96398942	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.997000|0.997000	0.91878|0.91878	4.147000|4.147000	0.58078|0.58078	2.587000|2.587000	0.87381|0.87381	0.655000|0.655000	0.94253|0.94253	CTC|TCT		0.428	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	NM_015341		34	105	0	0	0	0.074837	0	34	105				
LSG1	55341	broad.mit.edu	37	3	194362875	194362875	+	Silent	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:194362875C>T	ENST00000265245.5	-	14	2213	c.1899G>A	c.(1897-1899)gcG>gcA	p.A633A	AC046143.3_ENST00000447139.1_RNA	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	633					GTP catabolic process (GO:0006184)|nuclear export (GO:0051168)|protein transport (GO:0015031)|ribosome biogenesis (GO:0042254)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		AGGGCTTCCCCGCCCCGTTCT	0.498																																						ENST00000265245.5																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16						c.(1897-1899)gcG>gcA		large 60S subunit nuclear export GTPase 1							76.0	81.0	79.0					3																	194362875		2203	4300	6503	SO:0001819	synonymous_variant	55341				nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity	g.chr3:194362875C>T		CCDS33922.1	3q29	2013-08-21	2013-08-21		ENSG00000041802	ENSG00000041802			25652	protein-coding gene	gene with protein product		610780	"""large subunit GTPase 1 homolog (S. cerevisiae)"""			11230166	Standard	NM_018385		Approved	FLJ11301	uc003fui.3	Q9H089	OTTHUMG00000156021	ENST00000265245.5:c.1899G>A	3.37:g.194362875C>T						AC046143.3_ENST00000447139.1_RNA	p.A633A	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)	14	2213	-	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		633					A0JLT4|A0PJK3|A6NI18|Q7L9H8|Q9NUK8	Silent	SNP	ENST00000265245.5	37	c.1899G>A	CCDS33922.1																																																																																				0.498	LSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342740.1	NM_018385		21	74	0	0	0	0.049695	0	21	74				
TENM1	10178	broad.mit.edu	37	X	123554626	123554626	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chrX:123554626G>C	ENST00000371130.3	-	24	4559	c.4496C>G	c.(4495-4497)tCc>tGc	p.S1499C	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.S1506C	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1499					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CACTGCTAAGGAGGAAGGGGC	0.463																																						ENST00000422452.2																			0											c.(4516-4518)tCc>tGc		teneurin transmembrane protein 1							122.0	107.0	112.0					X																	123554626		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123554626G>C	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.4496C>G	X.37:g.123554626G>C	ENSP00000360171:p.Ser1499Cys					STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.S1499C	p.S1506C	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					25	4580	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.4517C>G	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387481	0.82902	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.91407	-2.84;-2.84	5.49	5.49	0.81192	Six-bladed beta-propeller, TolB-like (1);	0.060200	0.64402	D	0.000002	D	0.95802	0.8634	M	0.89414	3.03	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	P;P;P	0.62813	0.887;0.862;0.907	D	0.96494	0.9366	10	0.87932	D	0	.	18.4621	0.90743	0.0:0.0:1.0:0.0	.	1505;1506;1499	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	C	1499;1506	ENSP00000360171:S1499C;ENSP00000403954:S1506C	ENSP00000360171:S1499C	S	-	2	0	ODZ1	123382307	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.869000	0.99810	2.301000	0.77427	0.600000	0.82982	TCC		0.463	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		22	61	0	0	0	0.083992	0	22	61				
ARHGAP30	257106	broad.mit.edu	37	1	161024455	161024455	+	Missense_Mutation	SNP	T	T	C	rs146389701	byFrequency	TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:161024455T>C	ENST00000368013.3	-	4	706	c.386A>G	c.(385-387)aAg>aGg	p.K129R	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.K129R|ARHGAP30_ENST00000368015.1_Intron	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	129	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CTCTAGGATCTTGACCAAGCG	0.527													T|||	2	0.000399361	0.0015	0.0	5008	,	,		21010	0.0		0.0	False		,,,				2504	0.0					ENST00000368013.3																			0				breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(385-387)aAg>aGg		Rho GTPase activating protein 30		T	ARG/LYS,ARG/LYS	4,4402	8.1+/-20.4	0,4,2199	149.0	149.0	149.0		386,386	5.9	1.0	1	dbSNP_134	149	0,8600		0,0,4300	yes	missense,missense	ARHGAP30	NM_001025598.1,NM_181720.2	26,26	0,4,6499	CC,CT,TT		0.0,0.0908,0.0308	benign,benign	129/1102,129/891	161024455	4,13002	2203	4300	6503	SO:0001583	missense	257106				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr1:161024455T>C	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.386A>G	1.37:g.161024455T>C	ENSP00000356992:p.Lys129Arg					ARHGAP30_ENST00000368015.1_Intron|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.K129R	p.K129R	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		4	706	-	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		129			Rho-GAP.		Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	ENST00000368013.3	37	c.386A>G	CCDS30918.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	17.12	3.308378	0.60305	9.08E-4	0.0	ENSG00000186517	ENST00000368016;ENST00000368013	T;T	0.18657	2.2;2.2	5.87	5.87	0.94306	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.05410	0.0143	N	0.16602	0.42	0.80722	D	1	B;B	0.27351	0.176;0.146	B;B	0.33799	0.17;0.106	T	0.06075	-1.0847	10	0.02654	T	1	.	14.2841	0.66235	0.0:0.0:0.0:1.0	.	129;129	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	R	129	ENSP00000356995:K129R;ENSP00000356992:K129R	ENSP00000356992:K129R	K	-	2	0	ARHGAP30	159291079	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.009000	0.57110	2.251000	0.74343	0.529000	0.55759	AAG		0.527	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		15	60	0	0	0	0.146539	0	15	60				
NCAPG	64151	broad.mit.edu	37	4	17847407	17847407	+	IGR	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr4:17847407C>G	ENST00000251496.2	+	0	4661				LCORL_ENST00000326877.4_Missense_Mutation_p.L298F|LCORL_ENST00000539056.1_3'UTR	NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G						mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		ATGCTGTTGTCAAATTCAGAT	0.383																																						ENST00000326877.3																			0				kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(892-894)ttG>ttC		ligand dependent nuclear receptor corepressor-like							169.0	161.0	164.0					4																	17847407		2203	4300	6503	SO:0001628	intergenic_variant	254251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr4:17847407C>G	AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"""chromosome condensation protein G"""	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539		4.37:g.17847407C>G						LCORL_ENST00000539056.1_3'UTR	p.L298F	NM_153686.7	NP_710153.2	Q8N3X6	LCORL_HUMAN			7	1018	-			587					Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	ENST00000251496.2	37	c.894G>C	CCDS3424.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.318457	0.60524	.	.	ENSG00000178177	ENST00000326877	.	.	.	4.93	4.07	0.47477	.	.	.	.	.	T	0.45617	0.1351	.	.	.	0.80722	D	1	B	0.11235	0.004	B	0.11329	0.006	T	0.50516	-0.8819	7	0.87932	D	0	.	6.5399	0.22375	0.232:0.551:0.217:0.0	.	298	Q8N3X6-3	.	F	298	.	ENSP00000317566:L298F	L	-	3	2	LCORL	17456505	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.088000	0.30877	2.285000	0.76669	0.591000	0.81541	TTG		0.383	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	NM_022346		30	71	0	0	0	0.134883	0	30	71				
LRPPRC	10128	broad.mit.edu	37	2	44128664	44128664	+	Splice_Site	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:44128664C>G	ENST00000260665.7	-	32	3422		c.e32-1			NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing						mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GTCACAGCCTCTAAAATACAA	0.433																																						ENST00000260665.7																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41						c.e32-1		leucine-rich pentatricopeptide repeat containing							60.0	59.0	60.0					2																	44128664		2203	4300	6503	SO:0001630	splice_region_variant	10128				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	g.chr2:44128664C>G	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.3365-1G>C	2.37:g.44128664C>G								NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN			32	3422	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)						A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Splice_Site	SNP	ENST00000260665.7	37		CCDS33189.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848989	0.71603	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRPPRC	43982168	1.000000	0.71417	0.732000	0.30844	0.803000	0.45373	5.331000	0.65905	2.937000	0.99478	0.650000	0.86243	.		0.433	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259	Intron	8	31	0	0	0	0.058154	0	8	31				
WWC1	23286	broad.mit.edu	37	5	167812240	167812240	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:167812240G>A	ENST00000265293.4	+	3	756	c.254G>A	c.(253-255)cGa>cAa	p.R85Q	WWC1_ENST00000521089.1_Missense_Mutation_p.R85Q	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	85	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GAGGATCCTCGAGTACAATGG	0.527																																						ENST00000265293.4																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43						c.(253-255)cGa>cAa		WW and C2 domain containing 1							67.0	68.0	68.0					5																	167812240		2203	4300	6503	SO:0001583	missense	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167812240G>A	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.254G>A	5.37:g.167812240G>A	ENSP00000265293:p.Arg85Gln					WWC1_ENST00000521089.1_Missense_Mutation_p.R85Q	p.R85Q	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	3	756	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	85			WW 2.		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	ENST00000265293.4	37	c.254G>A	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	G	36	5.699973	0.96802	.	.	ENSG00000113645	ENST00000265293;ENST00000521089	T;T	0.09911	2.94;2.93	5.62	5.62	0.85841	WW/Rsp5/WWP (4);	0.000000	0.64402	D	0.000007	T	0.39358	0.1075	M	0.83603	2.65	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.74023	0.941;0.982	T	0.27331	-1.0077	10	0.87932	D	0	.	19.6523	0.95822	0.0:0.0:1.0:0.0	.	85;85	Q8IX03-2;Q8IX03	.;KIBRA_HUMAN	Q	85	ENSP00000265293:R85Q;ENSP00000427772:R85Q	ENSP00000265293:R85Q	R	+	2	0	WWC1	167744818	1.000000	0.71417	0.977000	0.42913	0.985000	0.73830	9.576000	0.98192	2.650000	0.89964	0.561000	0.74099	CGA		0.527	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		5	23	0	0	0	0.047766	0	5	23				
GOLM1	51280	broad.mit.edu	37	9	88650317	88650317	+	Silent	SNP	G	G	A	rs147755244		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr9:88650317G>A	ENST00000388712.3	-	8	1149	c.981C>T	c.(979-981)gaC>gaT	p.D327D	GOLM1_ENST00000257504.6_5'Flank|GOLM1_ENST00000388711.3_Silent_p.D327D	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	327					nucleus organization (GO:0006997)|regulation of lipid metabolic process (GO:0019216)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						CCTCCTGTCCGTCGGGGATGA	0.637											OREG0019278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000388712.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						c.(979-981)gaC>gaT		golgi membrane protein 1		G	,	1,4405	2.1+/-5.4	0,1,2202	64.0	72.0	70.0		981,981	-7.8	0.0	9	dbSNP_134	70	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GOLM1	NM_016548.3,NM_177937.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	327/402,327/402	88650317	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51280					Golgi apparatus|integral to plasma membrane		g.chr9:88650317G>A	AF236056	CCDS35054.1	9q21.33	2012-12-13	2007-07-30	2007-07-30	ENSG00000135052	ENSG00000135052			15451	protein-coding gene	gene with protein product		606804	"""golgi phosphoprotein 2"", ""chromosome 9 open reading frame 155"""	GOLPH2, C9orf155		10831838, 18953438, 22542941	Standard	NM_016548		Approved	GP73, FLJ23608, bA379P1.3	uc004aol.3	Q8NBJ4	OTTHUMG00000020130	ENST00000388712.3:c.981C>T	9.37:g.88650317G>A			OREG0019278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1261	GOLM1_ENST00000388711.3_Silent_p.D327D	p.D327D	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN			8	1149	-			327					Q6IAF4|Q9NRB9	Silent	SNP	ENST00000388712.3	37	c.981C>T	CCDS35054.1																																																																																				0.637	GOLM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052904.2	NM_177937		19	66	0	0	0	0.043863	0	19	66				
NOS1AP	9722	broad.mit.edu	37	1	162326887	162326887	+	Silent	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:162326887C>G	ENST00000361897.5	+	8	1302	c.900C>G	c.(898-900)ctC>ctG	p.L300L	NOS1AP_ENST00000530878.1_Silent_p.L295L	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	300					regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			agcagctcctccagcagcAGC	0.617																																						ENST00000361897.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32						c.(898-900)ctC>ctG		nitric oxide synthase 1 (neuronal) adaptor protein							40.0	40.0	40.0					1																	162326887		2203	4299	6502	SO:0001819	synonymous_variant	9722				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	g.chr1:162326887C>G	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.900C>G	1.37:g.162326887C>G						NOS1AP_ENST00000530878.1_Silent_p.L295L	p.L300L	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)		8	1302	+	all_hematologic(112;0.203)		300					B7ZLF5|O43564|Q3T551|Q5VU95	Silent	SNP	ENST00000361897.5	37	c.900C>G	CCDS1237.1																																																																																				0.617	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697		13	45	0	0	0	0.055883	0	13	45				
GPR113	165082	broad.mit.edu	37	2	26533788	26533788	+	Silent	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:26533788G>A	ENST00000311519.1	-	11	2807	c.2808C>T	c.(2806-2808)atC>atT	p.I936I	GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Silent_p.I867I|GPR113_ENST00000333478.6_Silent_p.I737I|GPR113_ENST00000541401.1_Silent_p.I539I	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	936					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCACGCCTATGATGGCCAGCA	0.597																																						ENST00000333478.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(2209-2211)atC>atT		G protein-coupled receptor 113							58.0	51.0	53.0					2																	26533788		2203	4300	6503	SO:0001819	synonymous_variant	165082				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:26533788G>A	AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"""-"", ""GPCR / Class B : Orphans"""	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.2808C>T	2.37:g.26533788G>A						GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Silent_p.I867I|GPR113_ENST00000541401.1_Silent_p.I539I|GPR113_ENST00000311519.1_Silent_p.I936I	p.I737I	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN			8	2793	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		936			GPS.		B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Silent	SNP	ENST00000311519.1	37	c.2211C>T	CCDS46239.1																																																																																				0.597	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835		9	12	0	0	0	0.058154	0	9	12				
MBD6	114785	broad.mit.edu	37	12	57919424	57919424	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr12:57919424C>A	ENST00000355673.3	+	6	1029	c.673C>A	c.(673-675)Ccc>Acc	p.P225T	MBD6_ENST00000431731.2_Missense_Mutation_p.P225T	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	225	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCTCAATGCTCCCTCATACAA	0.652																																						ENST00000355673.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						c.(673-675)Ccc>Acc		methyl-CpG binding domain protein 6							102.0	116.0	112.0					12																	57919424		2203	4300	6503	SO:0001583	missense	114785					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57919424C>A	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.673C>A	12.37:g.57919424C>A	ENSP00000347896:p.Pro225Thr					MBD6_ENST00000431731.2_Missense_Mutation_p.P225T	p.P225T	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN			6	1029	+			225			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	ENST00000355673.3	37	c.673C>A	CCDS8944.1	.	.	.	.	.	.	.	.	.	.	c	11.29	1.594687	0.28445	.	.	ENSG00000166987	ENST00000355673;ENST00000431731	.	.	.	3.37	2.48	0.30137	.	1.083860	0.07361	U	0.884090	T	0.18923	0.0454	N	0.08118	0	0.29644	N	0.84448	B;B	0.34015	0.207;0.435	B;B	0.35607	0.206;0.094	T	0.29366	-1.0014	8	.	.	.	-4.0899	4.7325	0.12972	0.0:0.6511:0.2257:0.1232	.	225;225	Q6P0P0;Q96DN6	.;MBD6_HUMAN	T	225	.	.	P	+	1	0	MBD6	56205691	0.431000	0.25546	0.992000	0.48379	0.985000	0.73830	1.206000	0.32321	0.983000	0.38602	0.444000	0.29173	CCC		0.652	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			40	163	1	0	2.66277e-13	0.092188	2.84916e-13	40	163				
AJUBA	84962	broad.mit.edu	37	14	23451383	23451383	+	Silent	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr14:23451383G>A	ENST00000262713.2	-	1	468	c.93C>T	c.(91-93)ccC>ccT	p.P31P	RP11-298I3.4_ENST00000555294.1_RNA|RP11-298I3.4_ENST00000557615.1_RNA|RP11-298I3.4_ENST00000556503.1_RNA|AJUBA_ENST00000361265.4_Silent_p.P31P|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	31	PreLIM.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										TGCCCGGCCCGGGGGTCCCGT	0.677																																						ENST00000262713.2																			0											c.(91-93)ccC>ccT		ajuba LIM protein							24.0	32.0	29.0					14																	23451383		2192	4295	6487	SO:0001819	synonymous_variant	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23451383G>A	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.93C>T	14.37:g.23451383G>A						RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Silent_p.P31P	p.P31P	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN			1	468	-			31			PreLIM.		A8MX18|D3DS37	Silent	SNP	ENST00000262713.2	37	c.93C>T	CCDS9581.1																																																																																				0.677	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			7	24	0	0	0	0.047766	0	7	24				
AGPAT4	56895	broad.mit.edu	37	6	161575246	161575246	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr6:161575246C>G	ENST00000320285.4	-	4	657	c.445G>C	c.(445-447)Gag>Cag	p.E149Q	AGPAT4_ENST00000457520.2_Intron|AGPAT4_ENST00000366911.5_Missense_Mutation_p.G92A|AGPAT4_ENST00000366908.5_3'UTR|AGPAT4_ENST00000366906.5_Missense_Mutation_p.E87Q	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	149					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		CGATCCTGCTCCCACTTGCGC	0.562																																						ENST00000320285.4																			0				endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25						c.(445-447)Gag>Cag		1-acylglycerol-3-phosphate O-acyltransferase 4							146.0	128.0	134.0					6																	161575246		2203	4300	6503	SO:0001583	missense	56895				phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding	g.chr6:161575246C>G	AF156776	CCDS5280.1	6q25.3	2013-02-05	2013-02-05		ENSG00000026652	ENSG00000026652	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20885	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, delta"""	614795	"""1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)"""				Standard	XM_005267052		Approved	LPAAT-delta, dJ473J16.2	uc003qtr.1	Q9NRZ5	OTTHUMG00000015966	ENST00000320285.4:c.445G>C	6.37:g.161575246C>G	ENSP00000314036:p.Glu149Gln					AGPAT4_ENST00000366911.5_Missense_Mutation_p.G92A|AGPAT4_ENST00000366906.5_Missense_Mutation_p.E87Q|AGPAT4_ENST00000366908.5_3'UTR|AGPAT4_ENST00000457520.2_Intron	p.E149Q	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)	4	657	-		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)	149					B4DSF9|Q5TEF0	Missense_Mutation	SNP	ENST00000320285.4	37	c.445G>C	CCDS5280.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.138668|5.138668	0.94560|0.94560	.|.	.|.	ENSG00000026652|ENSG00000026652	ENST00000320285;ENST00000366906|ENST00000366911	D;D|.	0.93307|.	-3.2;-3.2|.	4.41|4.41	4.41|4.41	0.53225|0.53225	Phospholipid/glycerol acyltransferase (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74321|0.74321	0.3701|0.3701	M|M	0.70787|0.70787	2.145|2.145	0.80722|0.80722	D|D	1|1	D;B|D	0.71674|0.89917	0.998;0.316|1.0	D;B|D	0.64321|0.91635	0.924;0.074|0.999	T|T	0.78540|0.78540	-0.2165|-0.2165	10|8	0.49607|0.87932	T|D	0.09|0	-35.9354|-35.9354	17.2155|17.2155	0.86943|0.86943	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	149;149|92	B4DHC0;Q9NRZ5|B4DIY1	.;PLCD_HUMAN|.	Q|A	149;87|92	ENSP00000314036:E149Q;ENSP00000355873:E87Q|.	ENSP00000314036:E149Q|ENSP00000355878:G92A	E|G	-|-	1|2	0|0	AGPAT4|AGPAT4	161495236|161495236	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.444000|7.444000	0.80532|0.80532	2.290000|2.290000	0.77057|0.77057	0.651000|0.651000	0.88453|0.88453	GAG|GGA		0.562	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042983.1	NM_020133		11	62	0	0	0	0.080935	0	11	62				
MYO15A	51168	broad.mit.edu	37	17	18045516	18045516	+	Silent	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr17:18045516C>T	ENST00000205890.5	+	24	6111	c.5773C>T	c.(5773-5775)Ctg>Ttg	p.L1925L		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1925	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.|Neck or regulatory domain.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ATTCCGCTCTCTGCGCCACAA	0.592																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(5773-5775)Ctg>Ttg		myosin XVA							40.0	43.0	42.0					17																	18045516		2172	4280	6452	SO:0001819	synonymous_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18045516C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.5773C>T	17.37:g.18045516C>T							p.L1925L	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			24	6111	+	all_neural(463;0.228)		1925			IQ 2.|Neck or regulatory domain.		B4DFC7	Silent	SNP	ENST00000205890.5	37	c.5773C>T	CCDS42271.1																																																																																				0.592	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		8	24	0	0	0	0.069234	0	8	24				
KRT2	3849	broad.mit.edu	37	12	53040579	53040579	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr12:53040579C>G	ENST00000309680.3	-	7	1435	c.1414G>C	c.(1414-1416)Gcc>Ccc	p.A472P		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	472	Coil 2.|Rod.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		ACATCTAGGGCCAGCTTCACG	0.622																																						ENST00000309680.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1414-1416)Gcc>Ccc		keratin 2							114.0	99.0	104.0					12																	53040579		2203	4300	6503	SO:0001583	missense	3849				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:53040579C>G		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.1414G>C	12.37:g.53040579C>G	ENSP00000310861:p.Ala472Pro						p.A472P	NM_000423.2	NP_000414.2	P35908	K22E_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.19)	7	1435	-			472			Coil 2.|Rod.		Q4VAQ2	Missense_Mutation	SNP	ENST00000309680.3	37	c.1414G>C	CCDS8835.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.763786	0.69878	.	.	ENSG00000172867	ENST00000309680	D	0.91011	-2.77	4.48	-0.0516	0.13826	Filament (1);	.	.	.	.	D	0.96756	0.8941	H	0.97564	4.03	0.29900	N	0.824512	D	0.89917	1.0	D	0.81914	0.995	D	0.93277	0.6657	9	0.87932	D	0	.	14.4625	0.67459	0.5966:0.4034:0.0:0.0	.	472	P35908	K22E_HUMAN	P	472	ENSP00000310861:A472P	ENSP00000310861:A472P	A	-	1	0	KRT2	51326846	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	2.011000	0.40922	0.182000	0.20032	0.563000	0.77884	GCC		0.622	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		21	68	0	0	0	0.091800	0	21	68				
FAT1	2195	broad.mit.edu	37	4	187541129	187541129	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr4:187541129A>C	ENST00000441802.2	-	10	6820	c.6611T>G	c.(6610-6612)gTg>gGg	p.V2204G		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2204	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTTAGCCTGCACGTGGACCAC	0.483										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(6610-6612)gTg>gGg		FAT atypical cadherin 1							135.0	134.0	134.0					4																	187541129		2008	4171	6179	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187541129A>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.6611T>G	4.37:g.187541129A>C	ENSP00000406229:p.Val2204Gly	HNSCC(5;0.00058)					p.V2204G	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	6820	-			2204			Cadherin 20.			Missense_Mutation	SNP	ENST00000441802.2	37	c.6611T>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	A	11.68	1.710707	0.30322	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.03272	3.99	5.05	3.87	0.44632	Cadherin (4);Cadherin-like (1);	0.331968	0.31370	N	0.007762	T	0.25195	0.0612	H	0.97365	3.99	0.39764	D	0.972077	P	0.52463	0.953	P	0.60473	0.875	T	0.30880	-0.9963	10	0.87932	D	0	.	10.703	0.45939	0.9251:0.0:0.0749:0.0	.	2204	Q14517	FAT1_HUMAN	G	2204;2206	ENSP00000406229:V2204G	ENSP00000260147:V2206G	V	-	2	0	FAT1	187778123	0.984000	0.35163	0.003000	0.11579	0.031000	0.12232	9.139000	0.94554	0.948000	0.37687	0.533000	0.62120	GTG		0.483	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		29	102	0	0	0	0.134883	0	29	102				
NKD1	85407	broad.mit.edu	37	16	50667367	50667367	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr16:50667367G>C	ENST00000268459.3	+	10	1312	c.1088G>C	c.(1087-1089)aGa>aCa	p.R363T		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	363					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		CACGTGGCCAGAGGGGCAAGA	0.711																																						ENST00000268459.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23						c.(1087-1089)aGa>aCa		naked cuticle homolog 1 (Drosophila)							27.0	34.0	32.0					16																	50667367		2198	4299	6497	SO:0001583	missense	85407				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	g.chr16:50667367G>C	AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"""EF-hand domain containing"""	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.1088G>C	16.37:g.50667367G>C	ENSP00000268459:p.Arg363Thr						p.R363T	NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN		GBM - Glioblastoma multiforme(240;0.243)	10	1312	+		all_cancers(37;0.229)	363					B2RC39|Q8WZ08	Missense_Mutation	SNP	ENST00000268459.3	37	c.1088G>C	CCDS10743.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516560	0.64634	.	.	ENSG00000140807	ENST00000268459	T	0.64803	-0.12	4.05	4.05	0.47172	.	0.053497	0.64402	D	0.000001	T	0.74535	0.3729	M	0.63428	1.95	0.47065	D	0.999306	D	0.76494	0.999	D	0.80764	0.994	T	0.73591	-0.3934	10	0.33940	T	0.23	-9.5069	14.5612	0.68136	0.0:0.0:1.0:0.0	.	363	Q969G9	NKD1_HUMAN	T	363	ENSP00000268459:R363T	ENSP00000268459:R363T	R	+	2	0	NKD1	49224868	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.295000	0.65692	2.092000	0.63282	0.305000	0.20034	AGA		0.711	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1			8	30	0	0	0	0.058154	0	8	30				
EDC4	23644	broad.mit.edu	37	16	67912724	67912724	+	Silent	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr16:67912724C>T	ENST00000358933.5	+	11	1508	c.1269C>T	c.(1267-1269)ctC>ctT	p.L423L	AC040162.1_ENST00000408599.1_RNA|EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	423					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		ACCTGATTCTCAGCGATGTGC	0.567																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(1267-1269)ctC>ctT		enhancer of mRNA decapping 4							111.0	117.0	115.0					16																	67912724		2198	4300	6498	SO:0001819	synonymous_variant	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67912724C>T	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1269C>T	16.37:g.67912724C>T						EDC4_ENST00000574770.1_3'UTR	p.L423L	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	11	1508	+		Ovarian(137;0.0563)	423					A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Silent	SNP	ENST00000358933.5	37	c.1269C>T	CCDS10849.1																																																																																				0.567	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		38	106	0	0	0	0.111260	0	38	106				
GSN	2934	broad.mit.edu	37	9	124091231	124091231	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr9:124091231A>G	ENST00000373818.4	+	14	2047	c.1978A>G	c.(1978-1980)Aag>Gag	p.K660E	GSN_ENST00000373808.2_Missense_Mutation_p.K609E|GSN_ENST00000373806.1_Missense_Mutation_p.K85E|GSN_ENST00000341272.2_Missense_Mutation_p.K609E|GSN_ENST00000545652.1_Missense_Mutation_p.K617E|GSN_ENST00000394353.2_Missense_Mutation_p.K620E|GSN_ENST00000436847.1_Missense_Mutation_p.K620E|GSN_ENST00000412819.1_Missense_Mutation_p.K609E|GSN_ENST00000373807.1_Missense_Mutation_p.K391E|GSN_ENST00000373823.3_Missense_Mutation_p.K609E|GSN_ENST00000449733.1_Missense_Mutation_p.K609E	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	660	Actin-binding, Ca-sensitive. {ECO:0000255}.				actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						GCTGAAGGACAAGAAGATGGA	0.622																																						ENST00000373823.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						c.(1825-1827)Aag>Gag		gelsolin							91.0	77.0	81.0					9																	124091231		2203	4300	6503	SO:0001583	missense	2934				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	g.chr9:124091231A>G	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.1978A>G	9.37:g.124091231A>G	ENSP00000362924:p.Lys660Glu					GSN_ENST00000545652.1_Missense_Mutation_p.K617E|GSN_ENST00000341272.2_Missense_Mutation_p.K609E|GSN_ENST00000412819.1_Missense_Mutation_p.K609E|GSN_ENST00000436847.1_Missense_Mutation_p.K620E|GSN_ENST00000449733.1_Missense_Mutation_p.K609E|GSN_ENST00000373807.1_Missense_Mutation_p.K391E|GSN_ENST00000394353.2_Missense_Mutation_p.K620E|GSN_ENST00000373806.1_Missense_Mutation_p.K85E|GSN_ENST00000373808.2_Missense_Mutation_p.K609E|GSN_ENST00000373818.4_Missense_Mutation_p.K660E	p.K609E			P06396	GELS_HUMAN			22	2730	+			660			Actin-binding, Ca-sensitive (Potential).		A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Missense_Mutation	SNP	ENST00000373818.4	37	c.1825A>G	CCDS6828.1	.	.	.	.	.	.	.	.	.	.	A	7.109	0.575663	0.13623	.	.	ENSG00000148180	ENST00000373823;ENST00000436847;ENST00000394353;ENST00000449733;ENST00000412819;ENST00000341272;ENST00000373808;ENST00000394352;ENST00000456109;ENST00000545652;ENST00000373818;ENST00000373807;ENST00000373806;ENST00000373805	T;T;T;T;T;T;T;T;T;T;T	0.56275	2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.58;0.47	5.26	4.04	0.47022	.	0.000000	0.85682	D	0.000000	T	0.27027	0.0662	N	0.08118	0	0.34561	D	0.712345	B;P;B;B;P	0.40476	0.399;0.718;0.346;0.01;0.666	B;B;B;B;B	0.39971	0.173;0.315;0.145;0.004;0.19	T	0.39742	-0.9599	10	0.02654	T	1	-35.3924	10.1746	0.42931	0.8333:0.1666:0.0:0.0	.	633;617;620;391;660	B7Z9A0;F5H1A8;B7Z373;Q5T0H9;P06396	.;.;.;.;GELS_HUMAN	E	609;620;620;609;609;609;609;593;583;617;660;391;85;85	ENSP00000362929:K609E;ENSP00000411293:K620E;ENSP00000377882:K620E;ENSP00000409358:K609E;ENSP00000416586:K609E;ENSP00000340888:K609E;ENSP00000362914:K609E;ENSP00000445823:K617E;ENSP00000362924:K660E;ENSP00000362913:K391E;ENSP00000362912:K85E	ENSP00000340888:K609E	K	+	1	0	GSN	123131052	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.585000	0.67497	2.117000	0.64856	0.533000	0.62120	AAG		0.622	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177		6	25	0	0	0	0.021553	0	6	25				
SMG5	23381	broad.mit.edu	37	1	156233278	156233278	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:156233278G>A	ENST00000361813.5	-	13	2083	c.1939C>T	c.(1939-1941)Cag>Tag	p.Q647*	SMG5_ENST00000489907.2_5'Flank|SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	647					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					ATCAGGACCTGAAGCTTCTCC	0.602																																						ENST00000361813.5																			0				NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48						c.(1939-1941)Cag>Tag		SMG5 nonsense mediated mRNA decay factor							123.0	104.0	110.0					1																	156233278		2203	4300	6503	SO:0001587	stop_gained	23381				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding	g.chr1:156233278G>A	AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.1939C>T	1.37:g.156233278G>A	ENSP00000355261:p.Gln647*					SMG5_ENST00000368267.4_Intron	p.Q647*	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN			13	2083	-	Hepatocellular(266;0.158)		647					D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Nonsense_Mutation	SNP	ENST00000361813.5	37	c.1939C>T	CCDS1137.1	.	.	.	.	.	.	.	.	.	.	G	39	7.908503	0.98554	.	.	ENSG00000198952	ENST00000361813	.	.	.	5.8	4.88	0.63580	.	0.257811	0.38492	N	0.001669	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-12.5627	7.8773	0.29601	0.0831:0.2676:0.6493:0.0	.	.	.	.	X	647	.	ENSP00000355261:Q647X	Q	-	1	0	SMG5	154499902	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.936000	0.56568	2.758000	0.94735	0.561000	0.74099	CAG		0.602	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	NM_015327		11	97	0	0	0	0.069234	0	11	97				
SPTY2D1	144108	broad.mit.edu	37	11	18633881	18633881	+	Silent	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:18633881G>A	ENST00000336349.5	-	4	2101	c.1866C>T	c.(1864-1866)atC>atT	p.I622I	SPTY2D1-AS1_ENST00000501599.2_RNA	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	622										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CATAACCAAAGATTTCTCTAA	0.323																																						ENST00000336349.5																			0				breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						c.(1864-1866)atC>atT		SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)							127.0	125.0	126.0					11																	18633881		2199	4293	6492	SO:0001819	synonymous_variant	144108							g.chr11:18633881G>A	BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.1866C>T	11.37:g.18633881G>A							p.I622I	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN			4	2101	-			622					Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Silent	SNP	ENST00000336349.5	37	c.1866C>T	CCDS31441.1																																																																																				0.323	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	NM_194285		16	64	0	0	0	0.175082	0	16	64				
ADRBK2	157	broad.mit.edu	37	22	26118286	26118286	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr22:26118286G>A	ENST00000324198.6	+	21	2128	c.1936G>A	c.(1936-1938)Gag>Aag	p.E646K		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	646	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				receptor internalization (GO:0031623)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)		ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	GTGGAAGAAAGAGTTGAACGA	0.552																																						ENST00000324198.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32						c.(1936-1938)Gag>Aag		adrenergic, beta, receptor kinase 2	Adenosine triphosphate(DB00171)						137.0	137.0	137.0					22																	26118286		2203	4300	6503	SO:0001583	missense	157						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity	g.chr22:26118286G>A	X69117	CCDS13832.1	22q11	2013-01-10			ENSG00000100077	ENSG00000100077		"""Pleckstrin homology (PH) domain containing"""	290	protein-coding gene	gene with protein product		109636				7695743	Standard	NM_005160		Approved	GRK3, BARK2	uc003abx.4	P35626	OTTHUMG00000150280	ENST00000324198.6:c.1936G>A	22.37:g.26118286G>A	ENSP00000317578:p.Glu646Lys						p.E646K	NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN			21	2128	+			646			PH.		Q9UGW9	Missense_Mutation	SNP	ENST00000324198.6	37	c.1936G>A	CCDS13832.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947426	0.73672	.	.	ENSG00000100077	ENST00000324198	T	0.75050	-0.9	5.4	5.4	0.78164	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.80844	0.4701	L	0.46157	1.445	0.80722	D	1	D	0.69078	0.997	P	0.60886	0.88	T	0.79339	-0.1844	10	0.38643	T	0.18	-40.349	18.1943	0.89815	0.0:0.0:1.0:0.0	.	646	P35626	ARBK2_HUMAN	K	646	ENSP00000317578:E646K	ENSP00000317578:E646K	E	+	1	0	ADRBK2	24448286	1.000000	0.71417	0.808000	0.32385	0.180000	0.23129	8.958000	0.93099	2.536000	0.85505	0.650000	0.86243	GAG		0.552	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317296.4	NM_005160		23	84	0	0	0	0.083992	0	23	84				
ITPR3	3710	broad.mit.edu	37	6	33636878	33636878	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr6:33636878G>A	ENST00000374316.5	+	19	3194	c.2134G>A	c.(2134-2136)Gcc>Acc	p.A712T	ITPR3_ENST00000605930.1_Missense_Mutation_p.A712T			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	712					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GAGGCAGCTGGCCCAGGAGGC	0.602																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(2134-2136)Gcc>Acc		inositol 1,4,5-trisphosphate receptor, type 3							107.0	97.0	100.0					6																	33636878		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33636878G>A	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.2134G>A	6.37:g.33636878G>A	ENSP00000363435:p.Ala712Thr					ITPR3_ENST00000605930.1_Missense_Mutation_p.A712T	p.A712T			Q14573	ITPR3_HUMAN			19	3194	+			712					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.2134G>A	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637746	0.87760	.	.	ENSG00000096433	ENST00000374316	D	0.92858	-3.12	5.5	4.64	0.57946	.	0.054386	0.64402	N	0.000001	D	0.92916	0.7746	M	0.78344	2.41	0.58432	D	0.999999	P	0.51057	0.941	P	0.53518	0.728	D	0.93630	0.6955	10	0.87932	D	0	-29.9512	14.3066	0.66389	0.0716:0.0:0.9284:0.0	.	712	Q14573	ITPR3_HUMAN	T	712	ENSP00000363435:A712T	ENSP00000363435:A712T	A	+	1	0	ITPR3	33744856	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	7.964000	0.87933	1.331000	0.45412	-0.379000	0.06801	GCC		0.602	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		7	82	0	0	0	0.058154	0	7	82				
KDM4B	23030	broad.mit.edu	37	19	5131326	5131326	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:5131326G>A	ENST00000159111.4	+	12	1773	c.1555G>A	c.(1555-1557)Gag>Aag	p.E519K	KDM4B_ENST00000536461.1_Missense_Mutation_p.E553K	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	519	Pro-rich.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TGAGGAGCTAGAGGCCAAGCC	0.687																																						ENST00000159111.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(1555-1557)Gag>Aag		lysine (K)-specific demethylase 4B							25.0	27.0	27.0					19																	5131326		2198	4290	6488	SO:0001583	missense	23030				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr19:5131326G>A	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.1555G>A	19.37:g.5131326G>A	ENSP00000159111:p.Glu519Lys					KDM4B_ENST00000536461.1_Missense_Mutation_p.E553K	p.E519K	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN			12	1773	+			519			Pro-rich.		B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	ENST00000159111.4	37	c.1555G>A	CCDS12138.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921157	0.33908	.	.	ENSG00000127663	ENST00000159111;ENST00000536461	T;T	0.21191	2.04;2.02	4.36	4.36	0.52297	.	.	.	.	.	T	0.11750	0.0286	N	0.15975	0.35	0.20074	N	0.999935	P;P	0.37781	0.573;0.608	B;B	0.33454	0.164;0.108	T	0.09079	-1.0691	9	0.06757	T	0.87	-25.9357	16.9031	0.86118	0.0:0.0:1.0:0.0	.	553;519	F5GX28;O94953	.;KDM4B_HUMAN	K	519;553	ENSP00000159111:E519K;ENSP00000440495:E553K	ENSP00000159111:E519K	E	+	1	0	KDM4B	5082326	1.000000	0.71417	0.046000	0.18839	0.605000	0.37080	4.384000	0.59607	1.974000	0.57490	0.561000	0.74099	GAG		0.687	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		8	26	0	0	0	0.047766	0	8	26				
SIGLEC6	946	broad.mit.edu	37	19	52033148	52033148	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:52033148G>A	ENST00000425629.3	-	5	996	c.842C>T	c.(841-843)cCt>cTt	p.P281L	SIGLEC6_ENST00000391797.3_Missense_Mutation_p.P270L|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.P281L|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.P292L|SIGLEC6_ENST00000474054.1_5'Flank|SIGLEC6_ENST00000346477.3_Missense_Mutation_p.P265L|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.P229L	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	281	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CAGGTGTGCAGGGGGGTTGCC	0.617																																						ENST00000346477.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28						c.(793-795)cCt>cTt		sialic acid binding Ig-like lectin 6							75.0	84.0	81.0					19																	52033148		2202	4300	6502	SO:0001583	missense	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52033148G>A	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.842C>T	19.37:g.52033148G>A	ENSP00000401502:p.Pro281Leu					SIGLEC6_ENST00000343300.4_Missense_Mutation_p.P281L|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.P281L|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.P270L|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.P292L|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.P229L	p.P265L	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	4	862	-		all_neural(266;0.0199)	281			Ig-like C2-type 2.		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	ENST00000425629.3	37	c.794C>T	CCDS12834.3	.	.	.	.	.	.	.	.	.	.	G	12.71	2.020953	0.35606	.	.	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000359982;ENST00000436458;ENST00000343300	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	3.71	2.66	0.31614	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.618609	0.13447	N	0.387206	T	0.76062	0.3935	M	0.82056	2.57	0.38930	D	0.957927	D;P;B;P;D;P	0.64830	0.957;0.937;0.262;0.839;0.994;0.815	P;P;B;P;P;P	0.57846	0.781;0.824;0.185;0.557;0.828;0.631	T	0.75852	-0.3171	10	0.56958	D	0.05	.	7.1911	0.25826	0.1264:0.0:0.8736:0.0	.	292;229;270;281;265;281	F8WA78;C9JBE5;O43699-4;O43699-2;O43699-3;O43699	.;.;.;.;.;SIGL6_HUMAN	L	254;265;281;292;229;281	ENSP00000401502:P281L;ENSP00000353071:P292L;ENSP00000410679:P229L;ENSP00000345907:P281L	ENSP00000345907:P281L	P	-	2	0	SIGLEC6	56724960	0.980000	0.34600	0.978000	0.43139	0.077000	0.17291	1.241000	0.32743	0.908000	0.36671	-0.346000	0.07831	CCT		0.617	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		18	70	0	0	0	0.043863	0	18	70				
SLC4A10	57282	broad.mit.edu	37	2	162820729	162820729	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:162820729G>T	ENST00000446997.1	+	22	3040	c.2947G>T	c.(2947-2949)Gtg>Ttg	p.V983L	SLC4A10_ENST00000375514.5_Missense_Mutation_p.V964L|SLC4A10_ENST00000415876.2_Missense_Mutation_p.V953L|SLC4A10_ENST00000272716.5_Missense_Mutation_p.V953L|SLC4A10_ENST00000421911.1_Missense_Mutation_p.V983L	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	983					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	GCTTCGAAAAGTGCATCTCTT	0.378																																						ENST00000375514.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(2890-2892)Gtg>Ttg		solute carrier family 4, sodium bicarbonate transporter, member 10							106.0	94.0	98.0					2																	162820729		1834	4097	5931	SO:0001583	missense	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162820729G>T		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.2947G>T	2.37:g.162820729G>T	ENSP00000393066:p.Val983Leu					SLC4A10_ENST00000421911.1_Missense_Mutation_p.V983L|SLC4A10_ENST00000272716.5_Missense_Mutation_p.V953L|SLC4A10_ENST00000446997.1_Missense_Mutation_p.V983L|SLC4A10_ENST00000415876.2_Missense_Mutation_p.V953L	p.V964L	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN			22	3177	+			983					B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	c.2890G>T	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804517	0.90623	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24	5.43	5.43	0.79202	Bicarbonate transporter, C-terminal (1);	0.140489	0.47455	D	0.000223	D	0.89128	0.6627	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.91635	0.999;0.999;0.975	D	0.90235	0.4282	10	0.87932	D	0	.	19.2361	0.93861	0.0:0.0:1.0:0.0	.	964;953;983	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	L	964;953;953;952;983;983;982	ENSP00000364664:V964L;ENSP00000395797:V953L;ENSP00000272716:V953L;ENSP00000393066:V983L;ENSP00000404486:V983L	ENSP00000272716:V953L	V	+	1	0	SLC4A10	162528975	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.010000	0.88615	2.528000	0.85240	0.655000	0.94253	GTG		0.378	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		8	25	1	0	1.06961e-07	0.038147	1.12205e-07	8	25				
AHNAK	79026	broad.mit.edu	37	11	62289230	62289230	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:62289230G>C	ENST00000378024.4	-	5	12933	c.12659C>G	c.(12658-12660)tCa>tGa	p.S4220*	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4220					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTGGGTCCTGAGACGTCAAG	0.483																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(12658-12660)tCa>tGa		AHNAK nucleoprotein							244.0	248.0	246.0					11																	62289230		2202	4299	6501	SO:0001587	stop_gained	79026				nervous system development	nucleus	protein binding	g.chr11:62289230G>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.12659C>G	11.37:g.62289230G>C	ENSP00000367263:p.Ser4220*					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.S4220*	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	12933	-		Melanoma(852;0.155)	4220					A1A586	Nonsense_Mutation	SNP	ENST00000378024.4	37	c.12659C>G	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	53	20.223347	0.99928	.	.	ENSG00000124942	ENST00000378024	.	.	.	4.43	3.48	0.39840	.	1.567330	0.04515	N	0.383610	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	11.5825	0.50900	0.0:0.0:0.8213:0.1787	.	.	.	.	X	4220	.	ENSP00000367263:S4220X	S	-	2	0	AHNAK	62045806	0.000000	0.05858	0.099000	0.21106	0.086000	0.17979	0.561000	0.23515	0.813000	0.34350	0.442000	0.29010	TCA		0.483	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		72	245	0	0	0	0.139131	0	72	245				
KRT37	8688	broad.mit.edu	37	17	39580458	39580458	+	Silent	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr17:39580458C>T	ENST00000225550.3	-	1	317	c.318G>A	c.(316-318)gaG>gaA	p.E106E	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	106	Coil 1A.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				ACTTCATGGTCTCCTTCTCAT	0.572																																						ENST00000225550.3																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25						c.(316-318)gaG>gaA		keratin 37							110.0	92.0	98.0					17																	39580458		2203	4300	6503	SO:0001819	synonymous_variant	8688					intermediate filament	structural molecule activity	g.chr17:39580458C>T	Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6455	protein-coding gene	gene with protein product		604541	"""keratin, hair, acidic, 7"""	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.318G>A	17.37:g.39580458C>T						AC003958.2_ENST00000432258.1_RNA	p.E106E	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN			1	317	-		Breast(137;0.000496)	106			Coil 1A.|Rod.			Silent	SNP	ENST00000225550.3	37	c.318G>A	CCDS32653.1																																																																																				0.572	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	NM_003770		13	54	0	0	0	0.105934	0	13	54				
MUC16	94025	broad.mit.edu	37	19	9066948	9066948	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:9066948G>A	ENST00000397910.4	-	3	20701	c.20498C>T	c.(20497-20499)tCa>tTa	p.S6833L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6835	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTGAGCAGTGAGGTCATAGG	0.502																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(20497-20499)tCa>tTa		mucin 16, cell surface associated							173.0	167.0	169.0					19																	9066948		2063	4205	6268	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9066948G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.20498C>T	19.37:g.9066948G>A	ENSP00000381008:p.Ser6833Leu						p.S6833L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	20701	-			6835			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.20498C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	8.267	0.812388	0.16537	.	.	ENSG00000181143	ENST00000397910	T	0.31769	1.48	2.32	2.32	0.28847	.	.	.	.	.	T	0.25901	0.0631	L	0.27053	0.805	.	.	.	D	0.55172	0.97	P	0.48089	0.566	T	0.34576	-0.9823	8	0.87932	D	0	.	8.1726	0.31264	0.0:0.0:1.0:0.0	.	6833	B5ME49	.	L	6833	ENSP00000381008:S6833L	ENSP00000381008:S6833L	S	-	2	0	MUC16	8927948	0.003000	0.15002	0.002000	0.10522	0.001000	0.01503	0.737000	0.26144	1.593000	0.50029	0.393000	0.25936	TCA		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		10	62	0	0	0	0.080935	0	10	62				
COX19	90639	broad.mit.edu	37	7	1012890	1012890	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:1012890G>A	ENST00000344111.3	-	2	210	c.121C>T	c.(121-123)Ctt>Ttt	p.L41F		NM_001031617.2	NP_001026788.1	Q49B96	COX19_HUMAN	cytochrome c oxidase assembly homolog 19 (S. cerevisiae)	41	CHCH.					cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;2.15e-15)		TTGTTATGAAGACACTTCATG	0.343																																						ENST00000344111.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5						c.(121-123)Ctt>Ttt		cytochrome c oxidase assembly homolog 19 (S. cerevisiae)							110.0	102.0	105.0					7																	1012890		2202	4299	6501	SO:0001583	missense	90639					cytosol		g.chr7:1012890G>A	AY957566	CCDS34582.1	7p22.3	2012-10-15	2012-10-15		ENSG00000240230	ENSG00000240230		"""Mitochondrial respiratory chain complex assembly factors"""	28074	protein-coding gene	gene with protein product		610429	"""COX19 cytochrome c oxidase assembly homolog (S. cerevisiae)"""			15596615, 16212937	Standard	NM_001031617		Approved	MGC104475	uc003sjp.1	Q49B96	OTTHUMG00000151476	ENST00000344111.3:c.121C>T	7.37:g.1012890G>A	ENSP00000342015:p.Leu41Phe						p.L41F	NM_001031617.2	NP_001026788.1	Q49B96	COX19_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;2.15e-15)	2	210	-		Ovarian(82;0.0112)	41			CHCH.		A4FTX0	Missense_Mutation	SNP	ENST00000344111.3	37	c.121C>T	CCDS34582.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279831	0.40294	.	.	ENSG00000240230	ENST00000344111	T	0.80566	-1.39	4.77	3.88	0.44766	CHCH (1);	0.000000	0.56097	D	0.000026	D	0.88980	0.6585	.	.	.	0.54753	D	0.999987	D	0.89917	1.0	D	0.91635	0.999	D	0.89882	0.4031	9	0.87932	D	0	3.5175	12.3976	0.55393	0.085:0.0:0.915:0.0	.	41	Q49B96	COX19_HUMAN	F	41	ENSP00000342015:L41F	ENSP00000342015:L41F	L	-	1	0	COX19	979416	1.000000	0.71417	0.900000	0.35374	0.344000	0.29017	5.012000	0.64017	1.125000	0.41998	0.467000	0.42956	CTT		0.343	COX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322812.1	NM_001031617		9	56	0	0	0	0.047766	0	9	56				
HTR1E	3354	broad.mit.edu	37	6	87725456	87725456	+	Missense_Mutation	SNP	C	C	T	rs143974435		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr6:87725456C>T	ENST00000305344.5	+	2	1107	c.404C>T	c.(403-405)aCg>aTg	p.T135M		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	135					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	AGGAAGAGGACGGCCAAGAGG	0.577																																						ENST00000305344.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41						c.(403-405)aCg>aTg		5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	Eletriptan(DB00216)	C	MET/THR	0,4406		0,0,2203	102.0	84.0	90.0		404	4.3	1.0	6	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	yes	missense	HTR1E	NM_000865.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	135/366	87725456	1,13005	2203	4300	6503	SO:0001583	missense	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725456C>T		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.404C>T	6.37:g.87725456C>T	ENSP00000307766:p.Thr135Met					HTR1E_ENST00000369584.1_Missense_Mutation_p.T135M	p.T135M	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1107	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	135					E1P503|Q9P1Y1	Missense_Mutation	SNP	ENST00000305344.5	37	c.404C>T	CCDS5006.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706857	0.68615	0.0	1.16E-4	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.45668	0.89;0.89	4.26	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.095990	0.40554	U	0.001070	T	0.75525	0.3861	H	0.98721	4.31	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.87152	0.2209	10	0.87932	D	0	.	16.6564	0.85229	0.0:1.0:0.0:0.0	.	135	P28566	5HT1E_HUMAN	M	135	ENSP00000307766:T135M;ENSP00000358597:T135M	ENSP00000307766:T135M	T	+	2	0	HTR1E	87782175	1.000000	0.71417	0.959000	0.39883	0.933000	0.57130	7.320000	0.79064	1.929000	0.55896	0.404000	0.27445	ACG		0.577	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		19	44	0	0	0	0.055883	0	19	44				
PDYN	5173	broad.mit.edu	37	20	1961196	1961196	+	Missense_Mutation	SNP	G	G	A	rs370283678		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr20:1961196G>A	ENST00000217305.2	-	4	763	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C	PDYN_ENST00000540134.1_Missense_Mutation_p.R180C|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000539905.1_Missense_Mutation_p.R180C	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	180					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.R180C(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGGTATTTGCGCAAAAAGCCC	0.602																																						ENST00000217305.2																			1	Substitution - Missense(1)	p.R180C(1)	ovary(1)	endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(538-540)Cgc>Tgc		prodynorphin		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	98.0	103.0	101.0		538,538,538,538,538	4.7	1.0	20		101	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	PDYN	NM_001190892.1,NM_001190898.2,NM_001190899.2,NM_001190900.1,NM_024411.4	180,180,180,180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	180/255,180/255,180/255,180/255,180/255	1961196	1,13005	2203	4300	6503	SO:0001583	missense	5173				cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	g.chr20:1961196G>A		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"""Endogenous ligands"""	8820	protein-coding gene	gene with protein product	"""preproenkephalin B"", ""rimorphin"", ""beta-neoendorphin"", ""dynorphin"", ""leu-enkephalin"", ""leumorphin"", ""neoendorphin-dynorphin-enkephalin prepropeptide"""	131340	"""spinocerebellar ataxia 23"""	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.538C>T	20.37:g.1961196G>A	ENSP00000217305:p.Arg180Cys					PDYN_ENST00000540134.1_Missense_Mutation_p.R180C|PDYN_ENST00000539905.1_Missense_Mutation_p.R180C|RP4-684O24.5_ENST00000446562.1_RNA	p.R180C	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN			4	763	-			180					A8K0Q3	Missense_Mutation	SNP	ENST00000217305.2	37	c.538C>T	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.513798	0.85389	0.0	1.16E-4	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	D;D;D	0.86956	-2.19;-2.19;-2.19	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.94162	0.8127	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95090	0.8221	10	0.87932	D	0	-18.2484	15.1657	0.72821	0.0:0.0:1.0:0.0	.	180	P01213	PDYN_HUMAN	C	180	ENSP00000440185:R180C;ENSP00000442259:R180C;ENSP00000217305:R180C	ENSP00000217305:R180C	R	-	1	0	PDYN	1909196	0.995000	0.38212	1.000000	0.80357	0.986000	0.74619	1.034000	0.30204	2.445000	0.82738	0.313000	0.20887	CGC		0.602	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2			26	66	0	0	0	0.083992	0	26	66				
ARAP2	116984	broad.mit.edu	37	4	36230305	36230305	+	Silent	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr4:36230305C>G	ENST00000303965.4	-	2	1293	c.804G>C	c.(802-804)gtG>gtC	p.V268V		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	268					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TACGACTTCTCACAGGTGCTA	0.418																																						ENST00000303965.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						c.(802-804)gtG>gtC		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2							131.0	125.0	127.0					4																	36230305		2203	4300	6503	SO:0001819	synonymous_variant	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36230305C>G	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.804G>C	4.37:g.36230305C>G							p.V268V	NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN			2	1293	-			268					Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Silent	SNP	ENST00000303965.4	37	c.804G>C	CCDS3441.1																																																																																				0.418	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		24	91	0	0	0	0.083992	0	24	91				
IRF9	10379	broad.mit.edu	37	14	24633337	24633337	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr14:24633337G>C	ENST00000396864.3	+	6	930	c.643G>C	c.(643-645)Gag>Cag	p.E215Q	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_Missense_Mutation_p.E113Q	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	215					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		GCTTCCTCCAGAGCCAGGTAC	0.522																																						ENST00000396864.3																			0				NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						c.(643-645)Gag>Cag		interferon regulatory factor 9							151.0	130.0	137.0					14																	24633337		2203	4300	6503	SO:0001583	missense	10379				interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr14:24633337G>C	M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"""interferon-stimulated transcription factor 3, gamma (48kD)"", ""interferon-stimulated transcription factor 3, gamma 48kDa"""	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.643G>C	14.37:g.24633337G>C	ENSP00000380073:p.Glu215Gln					IRF9_ENST00000557894.1_Missense_Mutation_p.E113Q|RP11-468E2.4_ENST00000558468.1_3'UTR	p.E215Q	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN		GBM - Glioblastoma multiforme(265;0.00853)	6	930	+			215					D3DS61	Missense_Mutation	SNP	ENST00000396864.3	37	c.643G>C	CCDS9615.1	.	.	.	.	.	.	.	.	.	.	G	9.914	1.210320	0.22289	.	.	ENSG00000213928	ENST00000396864;ENST00000324076	D;D	0.98901	-3.61;-5.22	4.09	-1.15	0.09709	SMAD domain-like (1);SMAD/FHA domain (1);	2.132990	0.02375	U	0.078268	D	0.94315	0.8173	N	0.22421	0.69	0.09310	N	1	B;B	0.33073	0.396;0.25	B;B	0.25759	0.063;0.047	D	0.92772	0.6233	10	0.15499	T	0.54	-0.4693	3.3156	0.07032	0.4478:0.0:0.364:0.1882	.	215;215	B4DI86;Q00978	.;IRF9_HUMAN	Q	215;145	ENSP00000380073:E215Q;ENSP00000313529:E145Q	ENSP00000313529:E145Q	E	+	1	0	IRF9	23703177	0.001000	0.12720	0.013000	0.15412	0.255000	0.26057	-0.023000	0.12456	-0.218000	0.10018	0.563000	0.77884	GAG		0.522	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071927.2			36	113	0	0	0	0.173368	0	36	113				
SARM1	23098	broad.mit.edu	37	17	26715421	26715421	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr17:26715421G>A	ENST00000457710.3	+	7	2155	c.1684G>A	c.(1684-1686)Gag>Aag	p.E562K	SARM1_ENST00000379061.4_3'UTR	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	596	TIR.				innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of apoptotic process (GO:0042981)|regulation of dendrite morphogenesis (GO:0048814)|regulation of neuron death (GO:1901214)|response to glucose (GO:0009749)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of mitochondrial outer membrane (GO:0031315)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|synapse (GO:0045202)				cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CATTGATGTGGAGAAGCTGGA	0.552																																						ENST00000457710.3																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1684-1686)Gag>Aag		sterile alpha and TIR motif containing 1							111.0	93.0	99.0					17																	26715421		2203	4300	6503	SO:0001583	missense	23098				innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity	g.chr17:26715421G>A	AB011096		17q11	2013-01-10			ENSG00000004139	ENSG00000004139		"""Sterile alpha motif (SAM) domain containing"""	17074	protein-coding gene	gene with protein product		607732				9628581	Standard	NM_015077		Approved	SARM, SAMD2, KIAA0524	uc010crl.1	Q6SZW1	OTTHUMG00000132499	ENST00000457710.3:c.1684G>A	17.37:g.26715421G>A	ENSP00000406738:p.Glu562Lys					SARM1_ENST00000379061.4_3'UTR	p.E562K	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	7	2155	+	all_lung(13;0.000533)|Lung NSC(42;0.00171)		596			TIR.		O60277|Q7LGG3|Q9NXY5	Missense_Mutation	SNP	ENST00000457710.3	37	c.1684G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.583829	0.96578	.	.	ENSG00000004139	ENST00000457710;ENST00000003834	.	.	.	5.39	5.39	0.77823	Toll/interleukin-1 receptor homology (TIR) domain (2);	0.000000	0.85682	D	0.000000	T	0.79215	0.4408	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.78768	-0.2075	8	0.48119	T	0.1	-33.7307	17.5118	0.87762	0.0:0.0:1.0:0.0	.	596	Q6SZW1	SARM1_HUMAN	K	594;562	.	ENSP00000003834:E562K	E	+	1	0	SARM1	23739548	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.795000	0.96236	0.655000	0.94253	GAG		0.552	SARM1-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000255679.3	NM_015077		14	70	0	0	0	0.119110	0	14	70				
ABCA13	154664	broad.mit.edu	37	7	48284261	48284261	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:48284261C>G	ENST00000435803.1	+	11	1375	c.1351C>G	c.(1351-1353)Ctc>Gtc	p.L451V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	451					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGATGGAGCTCTCAGAAATGC	0.428																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(1351-1353)Ctc>Gtc		ATP-binding cassette, sub-family A (ABC1), member 13							101.0	99.0	100.0					7																	48284261		1866	4101	5967	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48284261C>G	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.1351C>G	7.37:g.48284261C>G	ENSP00000411096:p.Leu451Val						p.L451V	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			11	1375	+			451					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.1351C>G	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.600865	0.46423	.	.	ENSG00000179869	ENST00000435803	D	0.89617	-2.54	5.06	2.01	0.26516	.	0.151595	0.30602	N	0.009271	T	0.81380	0.4810	L	0.32530	0.975	0.21325	N	0.999729	P	0.47841	0.901	P	0.44696	0.458	T	0.73987	-0.3809	10	0.87932	D	0	.	3.2171	0.06702	0.1787:0.5518:0.1732:0.0963	.	451	Q86UQ4	ABCAD_HUMAN	V	451	ENSP00000411096:L451V	ENSP00000411096:L451V	L	+	1	0	ABCA13	48254807	0.056000	0.20664	0.017000	0.16124	0.987000	0.75469	0.095000	0.15127	0.497000	0.27926	0.655000	0.94253	CTC		0.428	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		11	53	0	0	0	0.105934	0	11	53				
FBXO41	150726	broad.mit.edu	37	2	73492491	73492491	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:73492491C>T	ENST00000521871.1	-	5	1898	c.1483G>A	c.(1483-1485)Gag>Aag	p.E495K	FBXO41_ENST00000295133.5_Missense_Mutation_p.E556K|FBXO41_ENST00000520530.2_Missense_Mutation_p.E495K			Q8TF61	FBX41_HUMAN	F-box protein 41	495										breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						GCCTCTGACTCAGTGGTTCGG	0.687																																						ENST00000521871.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						c.(1483-1485)Gag>Aag		F-box protein 41							36.0	42.0	40.0					2																	73492491		2044	4184	6228	SO:0001583	missense	150726					intracellular	protein binding|zinc ion binding	g.chr2:73492491C>T	AB075820	CCDS46337.1, CCDS46337.2	2p13.2	2004-08-24				ENSG00000163013		"""F-boxes /  ""other"""""	29409	protein-coding gene	gene with protein product		609108				11853319	Standard	NM_001080410		Approved	KIAA1940, Fbx41	uc021vjh.1	Q8TF61		ENST00000521871.1:c.1483G>A	2.37:g.73492491C>T	ENSP00000428646:p.Glu495Lys					FBXO41_ENST00000295133.5_Missense_Mutation_p.E556K|FBXO41_ENST00000520530.2_Missense_Mutation_p.E495K	p.E495K			Q8TF61	FBX41_HUMAN			5	1898	-			495					G3V0Z7|Q2M1V8	Missense_Mutation	SNP	ENST00000521871.1	37	c.1483G>A	CCDS46337.2	.	.	.	.	.	.	.	.	.	.	C	35	5.440122	0.96168	.	.	ENSG00000163013	ENST00000295133;ENST00000521871	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.74861	0.3772	L	0.50333	1.59	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.75031	-0.3461	9	0.51188	T	0.08	.	17.734	0.88387	0.0:1.0:0.0:0.0	.	495	Q8TF61	FBX41_HUMAN	K	556;495	.	ENSP00000295133:E556K	E	-	1	0	FBXO41	73345999	1.000000	0.71417	0.960000	0.40013	0.969000	0.65631	7.105000	0.77031	2.543000	0.85770	0.650000	0.86243	GAG		0.687	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377381.1			13	40	0	0	0	0.119110	0	13	40				
PRDM10	56980	broad.mit.edu	37	11	129772280	129772280	+	Silent	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:129772280C>T	ENST00000360871.3	-	21	3630	c.3399G>A	c.(3397-3399)caG>caA	p.Q1133Q	PRDM10_ENST00000528746.1_Silent_p.Q1094Q|PRDM10_ENST00000526082.1_Silent_p.Q1051Q|PRDM10_ENST00000304538.6_Silent_p.Q1000Q|PRDM10_ENST00000423662.2_Silent_p.Q1038Q|PRDM10_ENST00000358825.5_Silent_p.Q1137Q	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	1124	Poly-Thr.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		ACTGTGTGGTCTGCTGTTGGC	0.547																																						ENST00000358825.5																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.(3409-3411)caG>caA		PR domain containing 10							315.0	272.0	287.0					11																	129772280		2201	4297	6498	SO:0001819	synonymous_variant	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129772280C>T	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.3399G>A	11.37:g.129772280C>T						PRDM10_ENST00000360871.3_Silent_p.Q1133Q|PRDM10_ENST00000528746.1_Silent_p.Q1094Q|PRDM10_ENST00000526082.1_Silent_p.Q1051Q|PRDM10_ENST00000423662.2_Silent_p.Q1038Q|PRDM10_ENST00000304538.6_Silent_p.Q1000Q	p.Q1137Q	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	22	3642	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	1124					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Silent	SNP	ENST00000360871.3	37	c.3411G>A	CCDS8484.1																																																																																				0.547	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		37	100	0	0	0	0.069456	0	37	100				
EFCAB6	64800	broad.mit.edu	37	22	43924776	43924776	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr22:43924776G>C	ENST00000262726.7	-	32	4716	c.4463C>G	c.(4462-4464)tCa>tGa	p.S1488*	EFCAB6_ENST00000396231.2_Nonsense_Mutation_p.S1336*|EFCAB6_ENST00000461800.1_5'UTR|EFCAB6-AS1_ENST00000431327.3_RNA	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1488	EF-hand 17. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Interaction with AR.|Interaction with PARK7.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GGAGATTTTTGAAGACAGCGT	0.512																																						ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(4462-4464)tCa>tGa		EF-hand calcium binding domain 6							126.0	130.0	128.0					22																	43924776		2203	4300	6503	SO:0001587	stop_gained	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:43924776G>C	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.4463C>G	22.37:g.43924776G>C	ENSP00000262726:p.Ser1488*					EFCAB6_ENST00000396231.2_Nonsense_Mutation_p.S1336*|EFCAB6-AS1_ENST00000431327.2_RNA|EFCAB6_ENST00000461800.1_5'UTR	p.S1488*	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			32	4716	-		Ovarian(80;0.0247)|all_neural(38;0.025)	1488			EF-hand 17.|Interaction with AR.|Interaction with PARK7.		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Nonsense_Mutation	SNP	ENST00000262726.7	37	c.4463C>G	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	G	42	9.706687	0.99244	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	.	.	.	5.12	5.12	0.69794	.	0.193328	0.32918	N	0.005485	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-18.3287	15.8748	0.79154	0.0:0.0:1.0:0.0	.	.	.	.	X	1336;1488	.	ENSP00000262726:S1488X	S	-	2	0	EFCAB6	42256109	0.804000	0.28969	0.091000	0.20842	0.227000	0.25037	3.852000	0.55934	2.538000	0.85594	0.655000	0.94253	TCA		0.512	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		8	91	0	0	0	0.058154	0	8	91				
AKAP6	9472	broad.mit.edu	37	14	33291002	33291002	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr14:33291002C>T	ENST00000280979.4	+	13	4153	c.3983C>T	c.(3982-3984)tCt>tTt	p.S1328F	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1328					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AGTAAAGACTCTTCATTTTCA	0.428																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(3982-3984)tCt>tTt		A kinase (PRKA) anchor protein 6							52.0	53.0	53.0					14																	33291002		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33291002C>T	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.3983C>T	14.37:g.33291002C>T	ENSP00000280979:p.Ser1328Phe					AKAP6_ENST00000557272.1_Intron	p.S1328F	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	4153	+	Breast(36;0.0388)|Prostate(35;0.15)		1328					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.3983C>T	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390767	0.62066	.	.	ENSG00000151320	ENST00000280979	T	0.09163	3.01	5.79	5.79	0.91817	.	0.130569	0.52532	D	0.000063	T	0.34019	0.0883	M	0.67953	2.075	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.01111	-1.1448	10	0.87932	D	0	-9.2978	18.2173	0.89890	0.0:1.0:0.0:0.0	.	1328	Q13023	AKAP6_HUMAN	F	1328	ENSP00000280979:S1328F	ENSP00000280979:S1328F	S	+	2	0	AKAP6	32360753	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.495000	0.66912	2.735000	0.93741	0.563000	0.77884	TCT		0.428	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		3	58	0	0	0	0.115264	0	3	58				
ADAMTS3	9508	broad.mit.edu	37	4	73414358	73414358	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr4:73414358G>C	ENST00000286657.4	-	3	377	c.341C>G	c.(340-342)tCt>tGt	p.S114C	ADAMTS3_ENST00000505193.1_5'UTR	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	114					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGGCACCAGAGATGTCTCATG	0.463																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(340-342)tCt>tGt		ADAM metallopeptidase with thrombospondin type 1 motif, 3							169.0	165.0	166.0					4																	73414358		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73414358G>C	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.341C>G	4.37:g.73414358G>C	ENSP00000286657:p.Ser114Cys					ADAMTS3_ENST00000505193.1_5'UTR	p.S114C	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		3	377	-			114					A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.341C>G	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	G	9.103	1.004681	0.19199	.	.	ENSG00000156140	ENST00000286657	T	0.62364	0.03	5.23	4.37	0.52481	Peptidase M12B, propeptide (1);	1.112690	0.06810	N	0.790299	T	0.74076	0.3669	M	0.66297	2.02	0.09310	N	1	B	0.27264	0.173	B	0.43478	0.421	T	0.66744	-0.5846	10	0.59425	D	0.04	.	14.4664	0.67488	0.0:0.0:0.852:0.148	.	114	O15072	ATS3_HUMAN	C	114	ENSP00000286657:S114C	ENSP00000286657:S114C	S	-	2	0	ADAMTS3	73633222	0.004000	0.15560	0.282000	0.24776	0.026000	0.11368	0.861000	0.27885	1.500000	0.48636	0.655000	0.94253	TCT		0.463	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			29	102	0	0	0	0.125774	0	29	102				
GPR98	84059	broad.mit.edu	37	5	90103466	90103466	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:90103466T>C	ENST00000405460.2	+	73	14980	c.14884T>C	c.(14884-14886)Tgg>Cgg	p.W4962R	GPR98_ENST00000425867.2_Missense_Mutation_p.W623R	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4962					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGTTTTCCTGTGGACGTTTCC	0.468																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(14884-14886)Tgg>Cgg		G protein-coupled receptor 98							67.0	64.0	65.0					5																	90103466		1842	4085	5927	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90103466T>C	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.14884T>C	5.37:g.90103466T>C	ENSP00000384582:p.Trp4962Arg					GPR98_ENST00000425867.2_Missense_Mutation_p.W623R	p.W4962R	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	73	14980	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	4962					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.14884T>C	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	T	3.052	-0.195191	0.06259	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.25912	1.84;1.77	5.76	-6.92	0.01644	.	0.653211	0.16579	N	0.208287	T	0.11281	0.0275	L	0.35414	1.06	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.17837	-1.0356	9	.	.	.	.	3.5542	0.07858	0.2352:0.465:0.108:0.1919	.	623;4962;623	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	R	4962;4962;623	ENSP00000384582:W4962R;ENSP00000392618:W623R	.	W	+	1	0	GPR98	90139222	0.000000	0.05858	0.009000	0.14445	0.021000	0.10359	-0.437000	0.06914	-0.782000	0.04541	-0.256000	0.11100	TGG		0.468	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		10	28	0	0	0	0.069234	0	10	28				
EMX2	2018	broad.mit.edu	37	10	119303110	119303110	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr10:119303110C>T	ENST00000553456.3	+	1	1156	c.332C>T	c.(331-333)tCg>tTg	p.S111L	EMX2OS_ENST00000450314.2_RNA|EMX2OS_ENST00000440007.1_RNA|EMX2OS_ENST00000551288.1_RNA|EMX2_ENST00000442245.4_Missense_Mutation_p.S111L	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	111					anterior/posterior pattern specification (GO:0009952)|cell proliferation in forebrain (GO:0021846)|cerebral cortex regionalization (GO:0021796)|dentate gyrus development (GO:0021542)|forebrain cell migration (GO:0021885)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|response to drug (GO:0042493)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		CTATTCGCCTCGCAGCAGCGG	0.697																																						ENST00000553456.3																			0				endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12						c.(331-333)tCg>tTg		empty spiracles homeobox 2							79.0	74.0	76.0					10																	119303110		2203	4300	6503	SO:0001583	missense	2018					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:119303110C>T	AF301598	CCDS7601.1, CCDS53583.1	10q26.11	2011-06-20	2007-02-15		ENSG00000170370	ENSG00000170370		"""Homeoboxes / ANTP class : NKL subclass"""	3341	protein-coding gene	gene with protein product		600035	"""empty spiracles homolog 2 (Drosophila)"""			7959790	Standard	NM_004098		Approved		uc001ldh.4	Q04743	OTTHUMG00000019123	ENST00000553456.3:c.332C>T	10.37:g.119303110C>T	ENSP00000450962:p.Ser111Leu					EMX2OS_ENST00000551288.1_RNA|EMX2_ENST00000442245.4_Missense_Mutation_p.S111L	p.S111L	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN		all cancers(201;0.0133)	1	1156	+		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)	111					G3V305|Q96NN8|Q9BQF4	Missense_Mutation	SNP	ENST00000553456.3	37	c.332C>T	CCDS7601.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.468117	0.26335	.	.	ENSG00000170370;ENSG00000258614	ENST00000369201;ENST00000553456	D	0.91996	-2.95	5.78	5.78	0.91487	.	0.152777	0.64402	D	0.000014	D	0.88202	0.6373	N	0.08118	0	0.80722	D	1	D;P	0.64830	0.994;0.939	P;B	0.53224	0.721;0.09	D	0.85222	0.1027	10	0.10111	T	0.7	-15.4464	20.0059	0.97434	0.0:1.0:0.0:0.0	.	111;111	G3V305;Q04743	.;EMX2_HUMAN	L	111	ENSP00000450962:S111L	ENSP00000358202:S111L	S	+	2	0	AC005871.1;EMX2	119293100	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.915000	0.69973	2.719000	0.93026	0.551000	0.68910	TCG		0.697	EMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050569.4	NM_004098		17	46	0	0	0	0.043863	0	17	46				
FERMT3	83706	broad.mit.edu	37	11	63990638	63990638	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:63990638A>T	ENST00000279227.5	+	14	1896	c.1801A>T	c.(1801-1803)Aat>Tat	p.N601Y	TRPT1_ENST00000540472.1_5'Flank|FERMT3_ENST00000345728.5_Missense_Mutation_p.N597Y	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	601					integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GCGCCAGTGGAATGTCAACTG	0.637																																						ENST00000279227.5																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						c.(1801-1803)Aat>Tat		fermitin family member 3							94.0	75.0	81.0					11																	63990638		2201	4297	6498	SO:0001583	missense	83706				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding	g.chr11:63990638A>T	L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	23151	protein-coding gene	gene with protein product	"""kindlin-3"""	607901	"""fermitin family homolog 3 (Drosophila)"""				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.1801A>T	11.37:g.63990638A>T	ENSP00000279227:p.Asn601Tyr					FERMT3_ENST00000345728.5_Missense_Mutation_p.N597Y	p.N601Y	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN			14	1896	+			601					Q8IUA1|Q8N207|Q9BT48	Missense_Mutation	SNP	ENST00000279227.5	37	c.1801A>T	CCDS8060.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.689897	0.88735	.	.	ENSG00000149781	ENST00000345728;ENST00000279227;ENST00000545896	T;T;T	0.78246	-1.16;-1.16;-1.16	5.09	5.09	0.68999	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.88280	0.6394	M	0.82193	2.58	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.995	D	0.89724	0.3921	10	0.62326	D	0.03	-25.2788	14.1441	0.65339	1.0:0.0:0.0:0.0	.	597;601	Q86UX7-2;Q86UX7	.;URP2_HUMAN	Y	597;601;118	ENSP00000339950:N597Y;ENSP00000279227:N601Y;ENSP00000440209:N118Y	ENSP00000279227:N601Y	N	+	1	0	FERMT3	63747214	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.896000	0.92521	2.049000	0.60858	0.459000	0.35465	AAT		0.637	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1	NM_031471		24	70	0	0	0	0.091800	0	24	70				
OXSR1	9943	broad.mit.edu	37	3	38266161	38266161	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:38266161A>C	ENST00000446845.1	+	8	1174	c.802A>C	c.(802-804)Att>Ctt	p.I268L	OXSR1_ENST00000311806.3_Missense_Mutation_p.I268L					oxidative stress responsive 1											skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TAGAAAAATGATTTCATTGTG	0.313																																						ENST00000311806.3																			0				skin(1)	1						c.(802-804)Att>Ctt		oxidative stress responsive 1							33.0	34.0	34.0					3																	38266161		2199	4296	6495	SO:0001583	missense	9943				intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr3:38266161A>C	AB017642	CCDS2675.1	3p22.2	2013-05-17	2013-05-17	2004-11-26	ENSG00000172939	ENSG00000172939			8508	protein-coding gene	gene with protein product		604046	"""oxidative-stress responsive 1"""	OSR1		10083736	Standard	XM_005265638		Approved	KIAA1101	uc003chy.3	O95747	OTTHUMG00000131084	ENST00000446845.1:c.802A>C	3.37:g.38266161A>C	ENSP00000415851:p.Ile268Leu					OXSR1_ENST00000446845.1_Missense_Mutation_p.I268L	p.I268L	NM_005109.2	NP_005100.1	O95747	OXSR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	8	1174	+			268			Protein kinase.			Missense_Mutation	SNP	ENST00000446845.1	37	c.802A>C		.	.	.	.	.	.	.	.	.	.	A	15.83	2.947863	0.53186	.	.	ENSG00000172939	ENST00000446845;ENST00000311806	T;T	0.66815	-0.23;-0.23	5.4	2.82	0.32997	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.094311	0.64402	D	0.000001	T	0.51941	0.1704	N	0.13098	0.295	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.32211	0.142;0.142	T	0.49513	-0.8932	10	0.44086	T	0.13	-15.5041	12.1419	0.54002	0.7338:0.2662:0.0:0.0	.	268;268	C9JIG9;O95747	.;OXSR1_HUMAN	L	268	ENSP00000415851:I268L;ENSP00000311713:I268L	ENSP00000311713:I268L	I	+	1	0	OXSR1	38241165	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.113000	0.64640	0.984000	0.38629	0.482000	0.46254	ATT		0.313	OXSR1-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000342708.1	NM_005109		13	24	0	0	0	0.105934	0	13	24				
SLC4A1AP	22950	broad.mit.edu	37	2	27907958	27907958	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:27907958G>A	ENST00000326019.6	+	10	2212	c.1930G>A	c.(1930-1932)Gag>Aag	p.E644K		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	644	Glu-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					AATGAAAGATGAGCCTGAAGT	0.443																																						ENST00000326019.6																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23						c.(1930-1932)Gag>Aag		solute carrier family 4 (anion exchanger), member 1, adaptor protein							66.0	65.0	65.0					2																	27907958		2203	4300	6503	SO:0001583	missense	22950					cytoplasm|nucleus	double-stranded RNA binding|protein binding	g.chr2:27907958G>A		CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"""lung cancer oncogene 3"""	602655	"""solute carrier family 4 (anion exchanger), member 1, adapter protein"""			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.1930G>A	2.37:g.27907958G>A	ENSP00000323837:p.Glu644Lys						p.E644K	NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN			10	2212	+	Acute lymphoblastic leukemia(172;0.155)		644			Glu-rich.		A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Missense_Mutation	SNP	ENST00000326019.6	37	c.1930G>A	CCDS33166.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012847	0.75161	.	.	ENSG00000163798	ENST00000326019	T	0.37058	1.22	5.38	5.38	0.77491	.	0.503780	0.22024	N	0.065699	T	0.39733	0.1089	L	0.54323	1.7	0.38432	D	0.946467	D	0.53151	0.958	B	0.42692	0.395	T	0.35674	-0.9779	10	0.35671	T	0.21	-22.535	19.4991	0.95086	0.0:0.0:1.0:0.0	.	644	Q9BWU0	NADAP_HUMAN	K	644	ENSP00000323837:E644K	ENSP00000323837:E644K	E	+	1	0	SLC4A1AP	27761462	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.244000	0.65400	2.669000	0.90835	0.563000	0.77884	GAG		0.443	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324550.1	NM_018158		21	42	0	0	0	0.049695	0	21	42				
UNC13D	201294	broad.mit.edu	37	17	73831829	73831829	+	Silent	SNP	C	C	T	rs371924071		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr17:73831829C>T	ENST00000207549.4	-	19	2005	c.1626G>A	c.(1624-1626)acG>acA	p.T542T	UNC13D_ENST00000412096.2_Silent_p.T542T	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	542	Interaction with RAB27A.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CACCCACAACCGTCGTGTGGT	0.622									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000207549.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1624-1626)acG>acA		unc-13 homolog D (C. elegans)		C		0,4406		0,0,2203	68.0	68.0	68.0		1626	-2.9	0.0	17		68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	UNC13D	NM_199242.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		542/1091	73831829	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	201294	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	g.chr17:73831829C>T	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.1626G>A	17.37:g.73831829C>T						UNC13D_ENST00000412096.2_Silent_p.T542T	p.T542T	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)		19	2005	-			542			Interaction with RAB27A.		B4DWG9|Q9H7K5	Silent	SNP	ENST00000207549.4	37	c.1626G>A	CCDS11730.1																																																																																				0.622	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950		30	69	0	0	0	0.125774	0	30	69				
FAM74A7	100996582	broad.mit.edu	37	9	40716111	40716111	+	lincRNA	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr9:40716111C>T	ENST00000432614.1	-	0	0				FAM74A3_ENST00000604146.1_lincRNA																							CAGACGCTGTCTGCAAGAAGA	0.537																																						ENST00000604146.1																			0				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10															99.0	92.0	95.0					9																	40716111		2201	4296	6497			728495							g.chr9:40716111C>T																													9.37:g.40716111C>T								NR_026801.1					GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	0	450	+									RNA	SNP	ENST00000432614.1	37																																																																																						0.537	RP11-395E19.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000143688.1			9	50	0	0	0	0.047766	0	9	50				
GPR50	9248	broad.mit.edu	37	X	150349840	150349840	+	Silent	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chrX:150349840C>G	ENST00000218316.3	+	2	1854	c.1785C>G	c.(1783-1785)acC>acG	p.T595T	AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	595	Pro-rich.				cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TAGTCACTACCAGTACCAATG	0.537																																						ENST00000218316.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38						c.(1783-1785)acC>acG		G protein-coupled receptor 50							136.0	136.0	136.0					X																	150349840		2143	4243	6386	SO:0001819	synonymous_variant	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150349840C>G	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.1785C>G	X.37:g.150349840C>G							p.T595T	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN			2	1854	+	Acute lymphoblastic leukemia(192;6.56e-05)		595			Pro-rich.		Q0VGG3|Q3ZAR0	Silent	SNP	ENST00000218316.3	37	c.1785C>G	CCDS44012.1																																																																																				0.537	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		23	157	0	0	0	0.083992	0	23	157				
CTCF	10664	broad.mit.edu	37	16	67662427	67662427	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr16:67662427C>G	ENST00000264010.4	+	9	2117	c.1673C>G	c.(1672-1674)tCt>tGt	p.S558C	CTCF_ENST00000401394.1_Missense_Mutation_p.S230C	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	558					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		TTTGTCTGTTCTAAGTGTGGG	0.483																																					Colon(175;1200 1966 6945 23069 27405)	ENST00000264010.4																			0				breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79						c.(1672-1674)tCt>tGt		CCCTC-binding factor (zinc finger protein)							213.0	193.0	200.0					16																	67662427		2198	4300	6498	SO:0001583	missense	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67662427C>G	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1673C>G	16.37:g.67662427C>G	ENSP00000264010:p.Ser558Cys					CTCF_ENST00000401394.1_Missense_Mutation_p.S230C	p.S558C	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	9	2117	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	558					B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	ENST00000264010.4	37	c.1673C>G	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.311146	0.81358	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	T;T	0.76839	-1.05;-1.05	5.72	5.72	0.89469	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000002	D	0.83603	0.5290	L	0.57536	1.79	0.54753	D	0.999989	B;D	0.63046	0.02;0.992	B;P	0.54372	0.025;0.75	D	0.84588	0.0665	10	0.66056	D	0.02	-2.6652	19.488	0.95037	0.0:1.0:0.0:0.0	.	230;558	B5MC38;P49711	.;CTCF_HUMAN	C	558;230	ENSP00000264010:S558C;ENSP00000384707:S230C	ENSP00000264010:S558C	S	+	2	0	CTCF	66219928	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	4.875000	0.63072	2.702000	0.92279	0.462000	0.41574	TCT		0.483	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		37	76	0	0	0	0.086207	0	37	76				
EP300	2033	broad.mit.edu	37	22	41547912	41547912	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr22:41547912C>T	ENST00000263253.7	+	15	4112	c.2893C>T	c.(2893-2895)Cag>Tag	p.Q965*		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	965					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AGTGAATTCTCAGGCCATTGC	0.478			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(2893-2895)Cag>Tag		E1A binding protein p300							120.0	121.0	120.0					22																	41547912		2203	4300	6503	SO:0001587	stop_gained	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41547912C>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.2893C>T	22.37:g.41547912C>T	ENSP00000263253:p.Gln965*						p.Q965*	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			15	4112	+			965					B1AKC2	Nonsense_Mutation	SNP	ENST00000263253.7	37	c.2893C>T	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	50	17.158103	0.99880	.	.	ENSG00000100393	ENST00000263253	.	.	.	5.52	5.52	0.82312	.	0.000000	0.46442	D	0.000298	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-6.5865	19.4296	0.94759	0.0:1.0:0.0:0.0	.	.	.	.	X	965	.	ENSP00000263253:Q965X	Q	+	1	0	EP300	39877858	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.084000	0.76866	2.587000	0.87381	0.557000	0.71058	CAG		0.478	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		11	84	0	0	0	0.093190	0	11	84				
ADRM1	11047	broad.mit.edu	37	20	60883183	60883183	+	Silent	SNP	G	G	A	rs201200661	byFrequency	TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr20:60883183G>A	ENST00000253003.2	+	8	1009	c.963G>A	c.(961-963)ccG>ccA	p.P321P	RP11-157P1.4_ENST00000414042.1_RNA|LAMA5_ENST00000492698.1_5'UTR	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	321					positive regulation of endopeptidase activity (GO:0010950)|proteasome assembly (GO:0043248)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|protease binding (GO:0002020)|proteasome binding (GO:0070628)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			AGTCGCTGCCGCAGACCGCGG	0.647													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18062	0.0		0.0	False		,,,				2504	0.0					ENST00000253003.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5						c.(961-963)ccG>ccA		adhesion regulating molecule 1							45.0	43.0	43.0					20																	60883183		2199	4296	6495	SO:0001819	synonymous_variant	11047				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding	g.chr20:60883183G>A	D64154	CCDS13496.1, CCDS74747.1	20q13.33	2008-05-22			ENSG00000130706	ENSG00000130706			15759	protein-coding gene	gene with protein product		610650				8033103	Standard	NM_007002		Approved	GP110, Rpn13, ARM1	uc002yco.3	Q16186	OTTHUMG00000032904	ENST00000253003.2:c.963G>A	20.37:g.60883183G>A						LAMA5_ENST00000492698.1_5'UTR	p.P321P	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.51e-06)		8	1009	+	Breast(26;7.76e-09)		321					A0PKB1|Q96FJ7|Q9H1P2	Silent	SNP	ENST00000253003.2	37	c.963G>A	CCDS13496.1																																																																																				0.647	ADRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080007.1			6	17	0	0	0	0.021553	0	6	17				
ZNF804A	91752	broad.mit.edu	37	2	185801352	185801352	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:185801352C>A	ENST00000302277.6	+	4	1823	c.1229C>A	c.(1228-1230)aCt>aAt	p.T410N		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	410							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GTTAACATAACTATACATAAG	0.383																																						ENST00000302277.6																			0				NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						c.(1228-1230)aCt>aAt		zinc finger protein 804A							87.0	95.0	92.0					2																	185801352		2203	4299	6502	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185801352C>A	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.1229C>A	2.37:g.185801352C>A	ENSP00000303252:p.Thr410Asn						p.T410N	NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN			4	1823	+			410					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.1229C>A	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.517284	0.00975	.	.	ENSG00000170396	ENST00000302277	T	0.05855	3.38	5.6	-2.56	0.06268	.	0.601453	0.15910	N	0.238644	T	0.05227	0.0139	L	0.54323	1.7	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.31943	-0.9925	10	0.41790	T	0.15	0.0948	2.864	0.05595	0.5077:0.2191:0.0928:0.1804	.	410	Q7Z570	Z804A_HUMAN	N	410	ENSP00000303252:T410N	ENSP00000303252:T410N	T	+	2	0	ZNF804A	185509597	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.058000	0.03482	-0.571000	0.06014	0.591000	0.81541	ACT		0.383	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		23	68	1	0	4.54149e-19	0.069288	4.92506e-19	23	68				
OR4C11	219429	broad.mit.edu	37	11	55371308	55371308	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:55371308G>A	ENST00000302231.4	-	1	566	c.542C>T	c.(541-543)cCc>cTc	p.P181L		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TTTCAACAAGGGCTGCAAATC	0.403																																						ENST00000302231.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						c.(541-543)cCc>cTc		olfactory receptor, family 4, subfamily C, member 11							81.0	67.0	72.0					11																	55371308		2177	4012	6189	SO:0001583	missense	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371308G>A	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"""GPCR / Class A : Olfactory receptors"""	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.542C>T	11.37:g.55371308G>A	ENSP00000306651:p.Pro181Leu						p.P181L	NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN			1	566	-			181					B9EIL4|Q8NGL8	Missense_Mutation	SNP	ENST00000302231.4	37	c.542C>T	CCDS31503.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532616	0.85812	.	.	ENSG00000172188	ENST00000302231	T	0.00224	8.51	4.34	4.34	0.51931	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	U	0.000182	T	0.00637	0.0021	M	0.83852	2.665	0.54753	D	0.999984	D	0.89917	1.0	D	0.97110	1.0	T	0.75966	-0.3131	10	0.87932	D	0	.	15.9533	0.79861	0.0:0.0:1.0:0.0	.	181	Q6IEV9	OR4CB_HUMAN	L	181	ENSP00000306651:P181L	ENSP00000306651:P181L	P	-	2	0	OR4C11	55127884	0.957000	0.32711	0.997000	0.53966	0.991000	0.79684	3.857000	0.55972	2.425000	0.82216	0.478000	0.44815	CCC		0.403	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		16	14	0	0	0	0.132662	0	16	14				
ZMYM2	7750	broad.mit.edu	37	13	20601408	20601408	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr13:20601408G>C	ENST00000382874.2	+	10	1991	c.1801G>C	c.(1801-1803)Gat>Cat	p.D601H	ZMYM2_ENST00000382883.3_Missense_Mutation_p.D83H|ZMYM2_ENST00000382869.3_Missense_Mutation_p.D601H|ZMYM2_ENST00000382871.2_Missense_Mutation_p.D601H	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	601					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		CACAATGCCTGATGGAAAACT	0.358																																						ENST00000382869.3																			0				large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(1801-1803)Gat>Cat		zinc finger, MYM-type 2							81.0	74.0	76.0					13																	20601408		1827	4074	5901	SO:0001583	missense	7750				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding	g.chr13:20601408G>C	AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.1801G>C	13.37:g.20601408G>C	ENSP00000372327:p.Asp601His					ZMYM2_ENST00000382883.3_Missense_Mutation_p.D83H|ZMYM2_ENST00000382870.2_5'UTR|ZMYM2_ENST00000382874.2_Missense_Mutation_p.D601H|ZMYM2_ENST00000382871.2_Missense_Mutation_p.D601H	p.D601H	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)	9	2052	+		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)	601					A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	ENST00000382874.2	37	c.1801G>C	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.646625	0.87958	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871;ENST00000382883	T;T;T;T	0.51325	1.46;1.46;1.46;0.71	5.35	5.35	0.76521	TRASH (1);Zinc finger, MYM-type (1);	0.045994	0.85682	D	0.000000	T	0.66046	0.2750	L	0.56199	1.76	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.68383	-0.5423	10	0.87932	D	0	-0.0218	19.0614	0.93095	0.0:0.0:1.0:0.0	.	601	Q9UBW7	ZMYM2_HUMAN	H	601;601;601;601;83	ENSP00000372322:D601H;ENSP00000372327:D601H;ENSP00000372324:D601H;ENSP00000372336:D83H	ENSP00000372322:D601H	D	+	1	0	ZMYM2	19499408	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.054000	0.93866	2.491000	0.84063	0.585000	0.79938	GAT		0.358	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453		3	3	0	0	0	0.150653	0	3	3				
NCAPH	23397	broad.mit.edu	37	2	97035190	97035190	+	Silent	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:97035190C>G	ENST00000240423.4	+	17	2161	c.2118C>G	c.(2116-2118)ctC>ctG	p.L706L	NCAPH_ENST00000427946.1_Silent_p.L570L|NCAPH_ENST00000455200.1_Silent_p.L695L	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	706					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				CTCAGAACCTCTCCATACCTC	0.433																																						ENST00000455200.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2083-2085)ctC>ctG		non-SMC condensin I complex, subunit H							202.0	188.0	193.0					2																	97035190		2203	4300	6503	SO:0001819	synonymous_variant	23397				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		g.chr2:97035190C>G	BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"""barren (Drosophila) homolog"", ""barren homolog (Drosophila)"", ""barren homolog 1 (Drosophila)"""	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.2118C>G	2.37:g.97035190C>G						NCAPH_ENST00000240423.4_Silent_p.L706L|NCAPH_ENST00000427946.1_Silent_p.L570L	p.L695L			Q15003	CND2_HUMAN			17	2380	+		Ovarian(717;0.0221)	706					B4E189|Q8TB87	Silent	SNP	ENST00000240423.4	37	c.2085C>G	CCDS2021.1	.	.	.	.	.	.	.	.	.	.	C	8.984	0.976072	0.18736	.	.	ENSG00000121152	ENST00000435349	T	0.55413	0.52	5.46	1.02	0.19986	.	0.000000	0.85682	D	0.000000	T	0.50377	0.1612	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37934	-0.9684	7	0.37606	T	0.19	-14.3928	6.4015	0.21640	0.1356:0.6132:0.0:0.2512	.	.	.	.	V	147	ENSP00000415162:L147V	ENSP00000415162:L147V	L	+	1	0	NCAPH	96398917	0.998000	0.40836	0.991000	0.47740	0.995000	0.86356	0.383000	0.20651	0.274000	0.22072	0.655000	0.94253	CTC		0.433	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	NM_015341		33	100	0	0	0	0.080422	0	33	100				
ALG11	440138	broad.mit.edu	37	13	52586581	52586581	+	Silent	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr13:52586581C>T	ENST00000521508.1	+	1	32	c.27C>T	c.(25-27)tgC>tgT	p.C9C	ATP7B_ENST00000344297.5_5'Flank|ATP7B_ENST00000448424.2_5'Flank|ALG11_ENST00000523764.1_Silent_p.C9C|ATP7B_ENST00000400366.3_5'Flank|ATP7B_ENST00000400370.3_5'Flank|ATP7B_ENST00000418097.2_5'Flank|ATP7B_ENST00000242839.4_5'Flank	NM_001004127.2	NP_001004127.2	Q2TAA5	ALG11_HUMAN	ALG11, alpha-1,2-mannosyltransferase	9					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0004377)			endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		GGAGCTGGTGCCTGTGCAAGT	0.567																																						ENST00000521508.1																			0				endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13						c.(25-27)tgC>tgT		ALG11, alpha-1,2-mannosyltransferase							90.0	83.0	85.0					13																	52586581		2203	4300	6503	SO:0001819	synonymous_variant	440138							g.chr13:52586581C>T	AK025456	CCDS31977.1	13q14.3	2013-02-22	2013-02-22		ENSG00000253710	ENSG00000253710	2.4.1.131	"""Glycosyltransferase group 1 domain containing"""	32456	protein-coding gene	gene with protein product	"""GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"""	613666	"""asparagine-linked glycosylation 11 homolog (S. cerevisiae, alpha-1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)"""			20080937	Standard	NM_001004127		Approved	KIAA0266		Q2TAA5	OTTHUMG00000016959	ENST00000521508.1:c.27C>T	13.37:g.52586581C>T						ALG11_ENST00000523764.1_Silent_p.C9C	p.C9C	NM_001004127.2	NP_001004127.2				GBM - Glioblastoma multiforme(99;2.44e-08)	1	32	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)						A5PLP3|B4DKW9|Q5TAN9|Q6DKI6|Q96FI7	Silent	SNP	ENST00000521508.1	37	c.27C>T	CCDS31977.1																																																																																				0.567	ALG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045050.1	NM_001004127		8	27	0	0	0	0.047766	0	8	27				
USP47	55031	broad.mit.edu	37	11	11964241	11964241	+	Silent	SNP	T	T	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:11964241T>C	ENST00000399455.2	+	21	2853	c.2733T>C	c.(2731-2733)ccT>ccC	p.P911P	USP47_ENST00000339865.5_Silent_p.P823P|USP47_ENST00000527733.1_Silent_p.P891P|USP47_ENST00000539466.1_5'UTR	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	911				P -> S (in Ref. 1; BAG54467). {ECO:0000305}.	base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TCGAATCACCTCTCAATGAGA	0.413																																						ENST00000339865.5																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(2467-2469)ccT>ccC		ubiquitin specific peptidase 47							77.0	72.0	74.0					11																	11964241		1924	4124	6048	SO:0001819	synonymous_variant	55031				base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	g.chr11:11964241T>C	AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.2733T>C	11.37:g.11964241T>C						USP47_ENST00000527733.1_Silent_p.P891P|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000399455.2_Silent_p.P911P	p.P823P	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN		Epithelial(150;0.000339)	19	3232	+			911					B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Silent	SNP	ENST00000399455.2	37	c.2469T>C																																																																																					0.413	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	NM_017944		4	57	0	0	0	0.150653	0	4	57				
PYGM	5837	broad.mit.edu	37	11	64521495	64521495	+	Silent	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:64521495C>T	ENST00000164139.3	-	10	1493	c.1095G>A	c.(1093-1095)gcG>gcA	p.A365A	PYGM_ENST00000462303.1_5'Flank|PYGM_ENST00000377432.3_Silent_p.A277A	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	365					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)	p.A365A(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCACATCCCACGCCTGGCACA	0.672																																						ENST00000164139.3																			1	Substitution - coding silent(1)	p.A365A(1)	lung(1)	cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1093-1095)gcG>gcA		phosphorylase, glycogen, muscle	Pyridoxal Phosphate(DB00114)						43.0	34.0	37.0					11																	64521495		2198	4293	6491	SO:0001819	synonymous_variant	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64521495C>T		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.1095G>A	11.37:g.64521495C>T						PYGM_ENST00000377432.3_Silent_p.A277A	p.A365A	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN			10	1493	-			365					A0AVK1|A6NDY6	Silent	SNP	ENST00000164139.3	37	c.1095G>A	CCDS8079.1																																																																																				0.672	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		4	11	0	0	0	0.150653	0	4	11				
MTOR	2475	broad.mit.edu	37	1	11187151	11187151	+	Missense_Mutation	SNP	C	C	T	rs542723817		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:11187151C>T	ENST00000361445.4	-	45	6343	c.6267G>A	c.(6265-6267)atG>atA	p.M2089I	MTOR_ENST00000376838.1_Missense_Mutation_p.M294I	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2089	Sufficient for interaction with the FKBP1A/rapamycin complex. {ECO:0000250}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TCCCTGATTTCATGTACTTCC	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		18919	0.0		0.0	False		,,,				2504	0.001					ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(6265-6267)atG>atA		mechanistic target of rapamycin (serine/threonine kinase)							116.0	104.0	108.0					1																	11187151		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11187151C>T	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6267G>A	1.37:g.11187151C>T	ENSP00000354558:p.Met2089Ile					MTOR_ENST00000376838.1_Missense_Mutation_p.M294I	p.M2089I	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			45	6343	-			2089					Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.6267G>A	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947219	0.73672	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.09445	3.23;2.98	5.4	5.4	0.78164	Protein kinase-like domain (1);FKBP12-rapamycin-associated protein, FKBP12-rapamycin-binding (3);	0.000000	0.85682	D	0.000000	T	0.08179	0.0204	N	0.08118	0	0.80722	D	1	B	0.16396	0.017	B	0.15870	0.014	T	0.30208	-0.9986	10	0.72032	D	0.01	-21.3191	19.196	0.93689	0.0:1.0:0.0:0.0	.	2089	P42345	MTOR_HUMAN	I	2089;294	ENSP00000354558:M2089I;ENSP00000366034:M294I	ENSP00000354558:M2089I	M	-	3	0	MTOR	11109738	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.456000	0.80751	2.531000	0.85337	0.650000	0.86243	ATG		0.488	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		8	38	0	0	0	0.038147	0	8	38				
MYOM1	8736	broad.mit.edu	37	18	3129359	3129359	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr18:3129359G>C	ENST00000356443.4	-	18	2998	c.2665C>G	c.(2665-2667)Caa>Gaa	p.Q889E	MYOM1_ENST00000400569.3_Missense_Mutation_p.Q889E|MYOM1_ENST00000261606.7_Intron|MYOM1_ENST00000582016.1_5'UTR	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	889					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CCCAGGTTTTGAGAGCTACTG	0.532											OREG0024838	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000400569.3																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(2665-2667)Caa>Gaa		myomesin 1							186.0	185.0	185.0					18																	3129359		1899	4113	6012	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3129359G>C	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.2665C>G	18.37:g.3129359G>C	ENSP00000348821:p.Gln889Glu		OREG0024838	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	608	MYOM1_ENST00000356443.4_Missense_Mutation_p.Q889E|MYOM1_ENST00000582016.1_5'UTR|MYOM1_ENST00000261606.7_Intron	p.Q889E			P52179	MYOM1_HUMAN			18	2998	-			889					Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.2665C>G	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.948163	0.00475	.	.	ENSG00000101605	ENST00000356443;ENST00000400569	T;T	0.39997	1.05;1.06	5.88	3.66	0.41972	.	1.194790	0.05875	N	0.625308	T	0.20941	0.0504	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.22347	-1.0219	10	0.02654	T	1	.	7.0829	0.25241	0.1439:0.3991:0.4569:0.0	.	889	P52179	MYOM1_HUMAN	E	889	ENSP00000348821:Q889E;ENSP00000383413:Q889E	ENSP00000348821:Q889E	Q	-	1	0	MYOM1	3119359	1.000000	0.71417	0.076000	0.20297	0.874000	0.50279	3.707000	0.54838	1.142000	0.42291	0.655000	0.94253	CAA		0.532	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		28	114	0	0	0	0.125774	0	28	114				
FLG	2312	broad.mit.edu	37	1	152277136	152277136	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:152277136C>T	ENST00000368799.1	-	3	10261	c.10226G>A	c.(10225-10227)cGa>cAa	p.R3409Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3409	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTTGTCTTCGTCCAGTGCT	0.602									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(10225-10227)cGa>cAa		filaggrin							150.0	167.0	161.0					1																	152277136		2203	4295	6498	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152277136C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10226G>A	1.37:g.152277136C>T	ENSP00000357789:p.Arg3409Gln					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.R3409Q	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	10261	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3409			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.10226G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	9.425	1.084085	0.20309	.	.	ENSG00000143631	ENST00000368799	T	0.01685	4.69	4.22	-3.76	0.04359	.	.	.	.	.	T	0.00580	0.0019	L	0.36672	1.1	0.09310	N	1	D	0.67145	0.996	P	0.48901	0.594	T	0.34875	-0.9811	9	0.10377	T	0.69	.	5.6313	0.17512	0.0:0.3229:0.41:0.2671	.	3409	P20930	FILA_HUMAN	Q	3409	ENSP00000357789:R3409Q	ENSP00000357789:R3409Q	R	-	2	0	FLG	150543760	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-3.747000	0.00377	-1.095000	0.03050	0.454000	0.30748	CGA		0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		53	169	0	0	0	0.139131	0	53	169				
CCDC51	79714	broad.mit.edu	37	3	48475178	48475178	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:48475178C>A	ENST00000395694.2	-	3	501	c.416G>T	c.(415-417)cGt>cTt	p.R139L	CCDC51_ENST00000447018.1_Missense_Mutation_p.R30L|CCDC51_ENST00000412398.2_Missense_Mutation_p.R30L|CCDC51_ENST00000442740.1_Missense_Mutation_p.R30L|CCDC51_ENST00000395696.1_Missense_Mutation_p.R139L	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	139						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCTGGAGACACGGTCCAAGCG	0.597																																						ENST00000395694.2																			0				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(415-417)cGt>cTt		coiled-coil domain containing 51							121.0	133.0	129.0					3																	48475178		2102	4210	6312	SO:0001583	missense	79714					integral to membrane		g.chr3:48475178C>A	AK022498	CCDS2766.2, CCDS58830.1	3p21.31	2005-12-30			ENSG00000164051	ENSG00000164051			25714	protein-coding gene	gene with protein product						12477932	Standard	NM_001256964		Approved	FLJ12436	uc003ctc.3	Q96ER9	OTTHUMG00000133534	ENST00000395694.2:c.416G>T	3.37:g.48475178C>A	ENSP00000379047:p.Arg139Leu					CCDC51_ENST00000447018.1_Missense_Mutation_p.R30L|CCDC51_ENST00000442740.1_Missense_Mutation_p.R30L|CCDC51_ENST00000395696.1_Missense_Mutation_p.R139L|CCDC51_ENST00000412398.2_Missense_Mutation_p.R30L	p.R139L	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	3	501	-			139					Q9HA01	Missense_Mutation	SNP	ENST00000395694.2	37	c.416G>T	CCDS2766.2	.	.	.	.	.	.	.	.	.	.	C	35	5.441754	0.96187	.	.	ENSG00000164051	ENST00000447018;ENST00000395694;ENST00000412398;ENST00000395696;ENST00000442740;ENST00000446140	T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.58836	0.2150	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64011	-0.6507	10	0.87932	D	0	-17.8165	17.7049	0.88306	0.0:1.0:0.0:0.0	.	139	Q96ER9	CCD51_HUMAN	L	30;139;30;139;30;139	ENSP00000412300:R30L;ENSP00000379047:R139L;ENSP00000401194:R30L;ENSP00000379049:R139L;ENSP00000392898:R30L;ENSP00000409494:R139L	ENSP00000379047:R139L	R	-	2	0	CCDC51	48450182	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.449000	0.80643	2.419000	0.82065	0.655000	0.94253	CGT		0.597	CCDC51-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344599.2	NM_024661		35	88	1	0	3.90053e-15	0.163468	4.21572e-15	35	88				
CPB1	1360	broad.mit.edu	37	3	148563304	148563304	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:148563304G>A	ENST00000491148.1	+	10	1206	c.872G>A	c.(871-873)cGc>cAc	p.R291H	CPB1_ENST00000282957.4_Missense_Mutation_p.R291H			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	291						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			GATTTCATCCGCAACAAACTC	0.463																																						ENST00000491148.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(871-873)cGc>cAc		carboxypeptidase B1 (tissue)							136.0	132.0	133.0					3																	148563304		2203	4300	6503	SO:0001583	missense	1360				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148563304G>A	AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase B"", ""tissue carboxypeptidase B"", ""protaminase"""	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.872G>A	3.37:g.148563304G>A	ENSP00000417222:p.Arg291His					CPB1_ENST00000282957.4_Missense_Mutation_p.R291H	p.R291H			P15086	CBPB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		10	1206	+			291					O60834|Q53XJ0|Q96BQ8	Missense_Mutation	SNP	ENST00000491148.1	37	c.872G>A	CCDS33874.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129997	0.77549	.	.	ENSG00000153002	ENST00000491148;ENST00000282957	T;T	0.11712	2.75;2.75	5.69	3.9	0.45041	Peptidase M14, carboxypeptidase A (2);	0.048732	0.85682	D	0.000000	T	0.17066	0.0410	M	0.71581	2.175	0.80722	D	1	D	0.58970	0.984	P	0.45138	0.471	T	0.01702	-1.1292	10	0.66056	D	0.02	.	12.2563	0.54625	0.1375:0.0:0.8625:0.0	.	291	P15086	CBPB1_HUMAN	H	291	ENSP00000417222:R291H;ENSP00000282957:R291H	ENSP00000282957:R291H	R	+	2	0	CPB1	150045994	1.000000	0.71417	0.693000	0.30195	0.731000	0.41821	6.402000	0.73260	0.760000	0.33108	0.655000	0.94253	CGC		0.463	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1	NM_001871		27	70	0	0	0	0.116897	0	27	70				
KLHL41	10324	broad.mit.edu	37	2	170377507	170377507	+	Missense_Mutation	SNP	G	G	C	rs375214560		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:170377507G>C	ENST00000284669.1	+	5	1776	c.1699G>C	c.(1699-1701)Gac>Cac	p.D567H	RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.D505H|KLHL41_ENST00000463400.1_3'UTR|BBS5_ENST00000554017.1_Missense_Mutation_p.D505H	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	567					myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)											TGAAGTCAATGACATATGGAA	0.368																																						ENST00000284669.1																			0											c.(1699-1701)Gac>Cac		kelch-like family member 41		G	HIS/ASP	0,4406		0,0,2203	140.0	126.0	131.0		1699	5.3	1.0	2		131	1,8599		0,1,4299	no	missense	KBTBD10	NM_006063.2	81	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	probably-damaging	567/607	170377507	1,13005	2203	4300	6503	SO:0001583	missense	10324							g.chr2:170377507G>C	AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"""Kelch-like"", ""BTB/POZ domain containing"""	16905	protein-coding gene	gene with protein product	"""sarcomeric muscle protein"""	607701	"""kelch repeat and BTB (POZ) domain containing 10"", ""kelch-like 41 (Drosophila)"""	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.1699G>C	2.37:g.170377507G>C	ENSP00000284669:p.Asp567His					KLHL41_ENST00000463400.1_3'UTR|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.D505H|BBS5_ENST00000554017.1_Missense_Mutation_p.D505H	p.D567H	NM_006063.2	NP_006054.2					5	1776	+								Q53R42	Missense_Mutation	SNP	ENST00000284669.1	37	c.1699G>C	CCDS2234.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629274	0.87560	0.0	1.16E-4	ENSG00000163093;ENSG00000251569;ENSG00000239474	ENST00000554017;ENST00000513963;ENST00000284669	T;T;T	0.69806	-0.43;-0.43;-0.43	5.29	5.29	0.74685	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.81029	0.4738	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.82410	-0.0471	10	0.87932	D	0	.	19.2781	0.94040	0.0:0.0:1.0:0.0	.	505;567	E9PBE3;O60662	.;KBTBA_HUMAN	H	505;505;567	ENSP00000452313:D505H;ENSP00000424363:D505H;ENSP00000284669:D567H	ENSP00000284669:D567H	D	+	1	0	BBS5;RP11-724O16.1;KBTBD10	170085753	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.380000	0.97202	2.634000	0.89283	0.591000	0.81541	GAC		0.368	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1	NM_006063		8	62	0	0	0	0.047766	0	8	62				
CTNNA1	1495	broad.mit.edu	37	5	138266343	138266343	+	Splice_Site	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:138266343G>A	ENST00000302763.7	+	15	2282	c.2192G>A	c.(2191-2193)cGa>cAa	p.R731Q	CTNNA1_ENST00000540387.1_Splice_Site_p.R361Q|CTNNA1_ENST00000355078.5_Splice_Site_p.R628Q|CTNNA1_ENST00000518825.1_Splice_Site_p.R731Q	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	731					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GACTTTACCCGGTGAGCAGCA	0.577																																						ENST00000302763.7																			0				NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52						c.e15+1		catenin (cadherin-associated protein), alpha 1, 102kDa							128.0	124.0	125.0					5																	138266343		2203	4300	6503	SO:0001630	splice_region_variant	1495				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding	g.chr5:138266343G>A	D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.2192+1G>A	5.37:g.138266343G>A						CTNNA1_ENST00000518825.1_Splice_Site_p.R731_splice|CTNNA1_ENST00000540387.1_Splice_Site_p.R361_splice|CTNNA1_ENST00000355078.5_Splice_Site_p.R628_splice	p.R731_splice	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		15	2282	+			731					Q12795|Q8N1C0	Splice_Site	SNP	ENST00000302763.7	37	c.2192_splice	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.012781	0.93346	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825;ENST00000540387;ENST00000520520	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.76040	0.3932	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.998	D;P;D	0.70716	0.97;0.903;0.929	T	0.77368	-0.2614	10	0.62326	D	0.03	-5.7916	19.9422	0.97170	0.0:0.0:1.0:0.0	.	731;608;731	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	Q	628;731;731;716;731;361;6	ENSP00000347190:R628Q;ENSP00000304669:R731Q;ENSP00000427821:R731Q;ENSP00000438476:R361Q;ENSP00000430076:R6Q	ENSP00000304669:R731Q	R	+	2	0	CTNNA1	138294242	1.000000	0.71417	1.000000	0.80357	0.399000	0.30720	9.337000	0.96545	2.884000	0.98904	0.655000	0.94253	CGA		0.577	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903	Missense_Mutation	19	78	0	0	0	0.062417	0	19	78				
CACNA1D	776	broad.mit.edu	37	3	53839030	53839030	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:53839030G>A	ENST00000350061.5	+	45	6117	c.5606G>A	c.(5605-5607)aGc>aAc	p.S1869N	CACNA1D_ENST00000544977.1_Missense_Mutation_p.S248N|CACNA1D_ENST00000422281.2_Missense_Mutation_p.S1845N|CACNA1D_ENST00000288139.4_Missense_Mutation_p.S1889N	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1869					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGCTACTACAGCAGATACCCA	0.522																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(5665-5667)aGc>aAc		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						81.0	79.0	80.0					3																	53839030		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53839030G>A	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.5606G>A	3.37:g.53839030G>A	ENSP00000288133:p.Ser1869Asn					CACNA1D_ENST00000422281.2_Missense_Mutation_p.S1845N|CACNA1D_ENST00000544977.1_Missense_Mutation_p.S248N|CACNA1D_ENST00000350061.5_Missense_Mutation_p.S1869N	p.S1889N	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	46	5784	+			1869					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.5666G>A	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	4.202	0.036271	0.08148	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000544977	T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65	4.7	0.846	0.18955	.	0.655352	0.12535	U	0.460434	T	0.18964	0.0455	N	0.03608	-0.345	0.18873	N	0.999983	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.23119	-1.0197	10	0.16420	T	0.52	.	4.5448	0.12076	0.4294:0.177:0.3936:0.0	.	1845;1562;1869;1889	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	N	1869;1889;1845;1562;248	ENSP00000288133:S1869N;ENSP00000288139:S1889N;ENSP00000409174:S1845N;ENSP00000418014:S1562N;ENSP00000440956:S248N	ENSP00000288139:S1889N	S	+	2	0	CACNA1D	53814070	0.969000	0.33509	0.978000	0.43139	0.744000	0.42396	0.054000	0.14205	-0.031000	0.13781	0.655000	0.94253	AGC		0.522	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		14	42	0	0	0	0.146539	0	14	42				
TTN	7273	broad.mit.edu	37	2	179638442	179638442	+	Silent	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:179638442C>G	ENST00000591111.1	-	32	7565	c.7341G>C	c.(7339-7341)gtG>gtC	p.V2447V	TTN_ENST00000360870.5_Silent_p.V2447V|TTN_ENST00000589042.1_Silent_p.V2447V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.V2401V|TTN_ENST00000342992.6_Silent_p.V2447V|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000359218.5_Silent_p.V2401V|TTN_ENST00000460472.2_Silent_p.V2401V|TTN-AS1_ENST00000584485.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12769	Ig-like 14.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGGTGTTATCACGTCCACAC	0.373																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(7339-7341)gtG>gtC		titin							65.0	63.0	63.0					2																	179638442		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179638442C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.7341G>C	2.37:g.179638442C>G						TTN_ENST00000342992.6_Silent_p.V2447V|TTN_ENST00000342175.6_Silent_p.V2401V|TTN_ENST00000460472.2_Silent_p.V2401V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.V2447V|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Silent_p.V2447V|TTN_ENST00000359218.5_Silent_p.V2401V	p.V2447V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		32	7565	-			2173			Ig-like 14.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.7341G>C																																																																																					0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	53	0	0	0	0.038147	0	8	53				
PTPRU	10076	broad.mit.edu	37	1	29602008	29602008	+	Missense_Mutation	SNP	G	G	A	rs188935262		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:29602008G>A	ENST00000345512.3	+	8	1322	c.1193G>A	c.(1192-1194)cGt>cAt	p.R398H	PTPRU_ENST00000356870.3_Missense_Mutation_p.R398H|PTPRU_ENST00000460170.2_Missense_Mutation_p.R398H|PTPRU_ENST00000373779.3_Missense_Mutation_p.R398H|PTPRU_ENST00000428026.2_Missense_Mutation_p.R398H|PTPRU_ENST00000323874.8_Missense_Mutation_p.R398H	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	398	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		ATCCAGGCCCGTCAGCTGACC	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		20988	0.001		0.0	False		,,,				2504	0.0					ENST00000356870.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79						c.(1192-1194)cGt>cAt		protein tyrosine phosphatase, receptor type, U							51.0	49.0	50.0					1																	29602008		2203	4300	6503	SO:0001583	missense	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29602008G>A	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.1193G>A	1.37:g.29602008G>A	ENSP00000334941:p.Arg398His					PTPRU_ENST00000345512.3_Missense_Mutation_p.R398H|PTPRU_ENST00000460170.2_Missense_Mutation_p.R398H|PTPRU_ENST00000323874.8_Missense_Mutation_p.R398H|PTPRU_ENST00000428026.2_Missense_Mutation_p.R398H|PTPRU_ENST00000373779.3_Missense_Mutation_p.R398H	p.R398H	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	8	1303	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	398			Fibronectin type-III 2.		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	c.1193G>A	CCDS334.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	35	5.554112	0.96501	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53	5.4	5.4	0.78164	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.73079	0.3541	M	0.75615	2.305	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.80764	0.994;0.994;0.994;0.987;0.987	T	0.72909	-0.4149	9	.	.	.	.	18.5309	0.90992	0.0:0.0:1.0:0.0	.	398;398;398;398;398	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	H	398	ENSP00000334941:R398H;ENSP00000362884:R398H;ENSP00000349333:R398H;ENSP00000314987:R398H;ENSP00000392332:R398H;ENSP00000432906:R398H	.	R	+	2	0	PTPRU	29474595	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.734000	0.98822	2.695000	0.91970	0.643000	0.83706	CGT		0.567	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			21	18	0	0	0	0.055883	0	21	18				
COL14A1	7373	broad.mit.edu	37	8	121381598	121381598	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr8:121381598C>T	ENST00000297848.3	+	47	5455	c.5185C>T	c.(5185-5187)Cct>Tct	p.P1729S	COL14A1_ENST00000247781.3_Missense_Mutation_p.P1634S|COL14A1_ENST00000309791.4_Missense_Mutation_p.P1729S	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GCCTGGCAGCCCTGGGCCCCC	0.582																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(5185-5187)Cct>Tct		collagen, type XIV, alpha 1							50.0	54.0	52.0					8																	121381598		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121381598C>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.5185C>T	8.37:g.121381598C>T	ENSP00000297848:p.Pro1729Ser					COL14A1_ENST00000247781.3_Missense_Mutation_p.P1634S|COL14A1_ENST00000309791.4_Missense_Mutation_p.P1729S	p.P1729S	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		47	5455	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		1729			Triple-helical region 2 (COL1).			Missense_Mutation	SNP	ENST00000297848.3	37	c.5185C>T	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.715053	0.89112	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000440844	D;D;D;D	0.96802	-2.61;-2.61;-3.24;-4.13	4.84	4.84	0.62591	.	0.184830	0.47455	D	0.000227	D	0.94938	0.8363	L	0.58101	1.795	0.80722	D	1	B	0.14438	0.01	B	0.10450	0.005	D	0.92201	0.5768	10	0.42905	T	0.14	.	18.4389	0.90658	0.0:1.0:0.0:0.0	.	1729	Q05707	COEA1_HUMAN	S	1729;1729;1634;76	ENSP00000311809:P1729S;ENSP00000297848:P1729S;ENSP00000247781:P1634S;ENSP00000403640:P76S	ENSP00000247781:P1634S	P	+	1	0	COL14A1	121450779	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	6.103000	0.71492	2.618000	0.88619	0.561000	0.74099	CCT		0.582	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		18	56	0	0	0	0.175082	0	18	56				
LCT	3938	broad.mit.edu	37	2	136590728	136590728	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:136590728C>G	ENST00000264162.2	-	2	683	c.673G>C	c.(673-675)Gat>Cat	p.D225H		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	225	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TCCGGGATATCTTCAGCTCGC	0.517																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(673-675)Gat>Cat		lactase							143.0	155.0	151.0					2																	136590728		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136590728C>G	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.673G>C	2.37:g.136590728C>G	ENSP00000264162:p.Asp225His						p.D225H	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	2	683	-			225			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.673G>C	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.727093	0.30593	.	.	ENSG00000115850	ENST00000264162	T	0.29397	1.57	5.57	3.74	0.42951	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.537419	0.20557	N	0.089994	T	0.16896	0.0406	N	0.14661	0.345	0.09310	N	1	B	0.20671	0.047	B	0.26202	0.067	T	0.28681	-1.0036	10	0.14656	T	0.56	-2.688	9.0199	0.36193	0.0:0.7723:0.1481:0.0797	.	225	P09848	LPH_HUMAN	H	225	ENSP00000264162:D225H	ENSP00000264162:D225H	D	-	1	0	LCT	136307198	0.001000	0.12720	0.008000	0.14137	0.161000	0.22273	0.578000	0.23773	0.815000	0.34398	0.455000	0.32223	GAT		0.517	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		33	115	0	0	0	0.069456	0	33	115				
TGM6	343641	broad.mit.edu	37	20	2375141	2375141	+	Silent	SNP	C	C	T	rs147506152		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr20:2375141C>T	ENST00000202625.2	+	2	112	c.51C>T	c.(49-51)ggC>ggT	p.G17G	TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Silent_p.G17G	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	17					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.G17G(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CGAGGAATGGCGCTGCCCACC	0.647													c|||	1	0.000199681	0.0	0.0	5008	,	,		17602	0.0		0.001	False		,,,				2504	0.0					ENST00000202625.2																			1	Substitution - coding silent(1)	p.G17G(1)	lung(1)	breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52						c.(49-51)ggC>ggT		transglutaminase 6	L-Glutamine(DB00130)						43.0	40.0	41.0					20																	2375141		2203	4300	6503	SO:0001819	synonymous_variant	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2375141C>T	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.51C>T	20.37:g.2375141C>T						TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Silent_p.G17G	p.G17G	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN			2	112	+			17					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Silent	SNP	ENST00000202625.2	37	c.51C>T	CCDS13025.1																																																																																				0.647	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		3	28	0	0	0	0.150653	0	3	28				
NBAS	51594	broad.mit.edu	37	2	15519752	15519752	+	Silent	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:15519752G>C	ENST00000281513.5	-	30	3589	c.3564C>G	c.(3562-3564)ctC>ctG	p.L1188L	NBAS_ENST00000441750.1_Silent_p.L1068L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1188					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.L1188L(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AGCTATCAGTGAGGTTGGTAG	0.428																																						ENST00000281513.5																			1	Substitution - coding silent(1)	p.L1188L(1)	lung(1)	NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(3562-3564)ctC>ctG		neuroblastoma amplified sequence							101.0	100.0	100.0					2																	15519752		2203	4300	6503	SO:0001819	synonymous_variant	51594							g.chr2:15519752G>C	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.3564C>G	2.37:g.15519752G>C						NBAS_ENST00000441750.1_Silent_p.L1068L	p.L1188L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			30	3589	-			1188					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	37	c.3564C>G	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	G	8.372	0.835540	0.16820	.	.	ENSG00000151779	ENST00000442506	.	.	.	5.79	1.76	0.24704	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.3004	0.04161	0.2326:0.218:0.4423:0.1071	.	.	.	.	X	236	.	.	S	-	2	0	NBAS	15437203	0.980000	0.34600	0.990000	0.47175	0.942000	0.58702	0.134000	0.15932	0.812000	0.34326	-0.244000	0.11960	TCA		0.428	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		18	49	0	0	0	0.175082	0	18	49				
SGOL2	151246	broad.mit.edu	37	2	201436564	201436564	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:201436564G>A	ENST00000357799.4	+	7	1593	c.1495G>A	c.(1495-1497)Gag>Aag	p.E499K		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	499					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AATAACAAATGAGCAAGAGGA	0.338																																						ENST00000357799.4																			0				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(1495-1497)Gag>Aag		shugoshin-like 2 (S. pombe)							109.0	111.0	110.0					2																	201436564		1817	4069	5886	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201436564G>A	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.1495G>A	2.37:g.201436564G>A	ENSP00000350447:p.Glu499Lys						p.E499K	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN			7	1593	+			499					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.1495G>A	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.432379	0.25813	.	.	ENSG00000163535	ENST00000357799	T	0.39406	1.08	5.15	2.39	0.29439	.	0.636978	0.14737	N	0.301428	T	0.40272	0.1110	M	0.66939	2.045	0.09310	N	0.999997	B;B;B	0.20052	0.041;0.041;0.041	B;B;B	0.19946	0.027;0.027;0.027	T	0.41556	-0.9502	10	0.72032	D	0.01	-1.1646	8.6471	0.34011	0.2555:0.0:0.7445:0.0	.	499;499;499	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	K	499	ENSP00000350447:E499K	ENSP00000350447:E499K	E	+	1	0	SGOL2	201144809	0.007000	0.16637	0.012000	0.15200	0.102000	0.19082	1.080000	0.30779	0.872000	0.35775	-0.225000	0.12378	GAG		0.338	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		23	129	0	0	0	0.062417	0	23	129				
PSMA3	5684	broad.mit.edu	37	14	58711603	58711603	+	De_novo_Start_OutOfFrame	SNP	C	C	A	rs552836001		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr14:58711603C>A	ENST00000216455.4	+	0	55				PSMA3_ENST00000412908.2_De_novo_Start_OutOfFrame|PSMA3_ENST00000557508.1_5'Flank|PSMA3_ENST00000554456.1_3'UTR	NM_002788.3|NM_152132.2	NP_002779.1|NP_687033.1	P25788	PSA3_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 3						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(2)	12						GCGCTCCGGGCCTGGAATCCC	0.527																																						ENST00000216455.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(2)	12								proteasome (prosome, macropain) subunit, alpha type, 3							84.0	82.0	83.0					14																	58711603		2203	4300	6503			5684				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|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 apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity	g.chr14:58711603C>A		CCDS9731.1, CCDS45113.1	14q23	2008-08-29			ENSG00000100567	ENSG00000100567		"""Proteasome (prosome, macropain) subunits"""	9532	protein-coding gene	gene with protein product		176843				2025653, 8811196	Standard	NM_002788		Approved	HC8	uc001xdj.2	P25788	OTTHUMG00000140319	ENST00000216455.4:c.-36C>A	14.37:g.58711603C>A						PSMA3_ENST00000554456.1_3'UTR|PSMA3_ENST00000412908.2_De_novo_Start_OutOfFrame		NM_002788.3|NM_152132.2	NP_002779.1|NP_687033.1	P25788	PSA3_HUMAN			0	55	+								B2RCK6|Q86U83|Q8N1D8|Q9BS70	Translation_Start_Site	SNP	ENST00000216455.4	37		CCDS9731.1																																																																																				0.527	PSMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276923.1	NM_002788		14	40	1	0	9.31168e-06	0.105934	9.6733e-06	14	40				
DNAH3	55567	broad.mit.edu	37	16	21011751	21011751	+	Silent	SNP	G	G	A	rs138378920		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr16:21011751G>A	ENST00000261383.3	-	43	6215	c.6216C>T	c.(6214-6216)ttC>ttT	p.F2072F	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2072	AAA 3. {ECO:0000250}.				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)|microtubule motor activity (GO:0003777)	p.F2072F(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGGGACCCACGAACAGCATTG	0.493																																						ENST00000261383.3																			2	Substitution - coding silent(2)	p.F2072F(2)	prostate(2)	NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(6214-6216)ttC>ttT		dynein, axonemal, heavy chain 3		G		0,4402		0,0,2201	186.0	162.0	170.0		6216	-5.4	0.5	16	dbSNP_134	170	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	DNAH3	NM_017539.1		0,2,6499	AA,AG,GG		0.0233,0.0,0.0154		2072/4117	21011751	2,13000	2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21011751G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.6216C>T	16.37:g.21011751G>A						DNAH3_ENST00000415178.1_3'UTR	p.F2072F	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	43	6215	-			2072			AAA 3 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.6216C>T	CCDS10594.1																																																																																				0.493	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		14	32	0	0	0	0.105934	0	14	32				
ARMC8	25852	broad.mit.edu	37	3	137942337	137942337	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:137942337C>G	ENST00000469044.1	+	4	572	c.301C>G	c.(301-303)Cta>Gta	p.L101V	ARMC8_ENST00000470821.1_Missense_Mutation_p.L101V|ARMC8_ENST00000471453.1_Missense_Mutation_p.L87V|ARMC8_ENST00000358441.2_Missense_Mutation_p.L87V|ARMC8_ENST00000461822.1_Missense_Mutation_p.L101V|ARMC8_ENST00000485396.1_Missense_Mutation_p.L59V|ARMC8_ENST00000491704.1_Missense_Mutation_p.L59V|ARMC8_ENST00000489213.1_Missense_Mutation_p.L59V|ARMC8_ENST00000481646.1_Missense_Mutation_p.L87V|ARMC8_ENST00000393058.3_Missense_Mutation_p.L91V|ARMC8_ENST00000538260.1_Missense_Mutation_p.L101V	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	101										endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TGTCAAGTCTCTACTGGACTG	0.413																																						ENST00000469044.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						c.(301-303)Cta>Gta		armadillo repeat containing 8							130.0	120.0	124.0					3																	137942337		2203	4300	6503	SO:0001583	missense	25852						binding	g.chr3:137942337C>G		CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"""Armadillo repeat containing"""	24999	protein-coding gene	gene with protein product	"""GID complex subunit 5, VID28 homolog (S. cerevisiae)"""					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.301C>G	3.37:g.137942337C>G	ENSP00000419413:p.Leu101Val					ARMC8_ENST00000393058.3_Missense_Mutation_p.L91V|ARMC8_ENST00000481646.1_Missense_Mutation_p.L87V|ARMC8_ENST00000489213.1_Missense_Mutation_p.L59V|ARMC8_ENST00000471453.1_Missense_Mutation_p.L87V|ARMC8_ENST00000461822.1_Missense_Mutation_p.L101V|ARMC8_ENST00000358441.2_Missense_Mutation_p.L87V|ARMC8_ENST00000491704.1_Missense_Mutation_p.L59V|ARMC8_ENST00000485396.1_Missense_Mutation_p.L59V|ARMC8_ENST00000538260.1_Missense_Mutation_p.L101V|ARMC8_ENST00000470821.1_Missense_Mutation_p.L101V	p.L101V	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN			4	572	+			101					A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Missense_Mutation	SNP	ENST00000469044.1	37	c.301C>G		.	.	.	.	.	.	.	.	.	.	C	18.36	3.607818	0.66558	.	.	ENSG00000114098	ENST00000481646;ENST00000469044;ENST00000491704;ENST00000461600;ENST00000466749;ENST00000358441;ENST00000489213;ENST00000461822;ENST00000485396;ENST00000471453;ENST00000470821;ENST00000471709;ENST00000538260;ENST00000393058	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.52057	1.47;1.47;1.47;0.68;0.71;0.68;0.68;1.33;1.33;0.68;0.68;0.71;1.33;1.47	5.9	5.03	0.67393	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62332	0.2419	L	0.55743	1.74	0.58432	D	0.999998	D;D;D;P;D;D;D	0.71674	0.993;0.998;0.998;0.956;0.998;0.996;0.996	P;D;D;D;D;D;D	0.75484	0.803;0.984;0.967;0.931;0.956;0.986;0.978	T	0.63028	-0.6728	10	0.49607	T	0.09	-16.6922	12.631	0.56657	0.0:0.9204:0.0:0.0796	.	59;101;101;101;87;101;87	B7Z637;B7Z441;F5GWK4;Q8IUR7;Q8IUR7-2;G5E9V6;Q8IUR7-6	.;.;.;ARMC8_HUMAN;.;.;.	V	87;101;59;101;59;87;59;101;59;87;101;101;101;91	ENSP00000420333:L87V;ENSP00000419413:L101V;ENSP00000417304:L59V;ENSP00000418074:L101V;ENSP00000417699:L59V;ENSP00000351221:L87V;ENSP00000418412:L59V;ENSP00000420706:L101V;ENSP00000417049:L59V;ENSP00000420440:L87V;ENSP00000418405:L101V;ENSP00000420719:L101V;ENSP00000441592:L101V;ENSP00000376778:L91V	ENSP00000351221:L87V	L	+	1	2	ARMC8	139425027	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	3.056000	0.49923	1.511000	0.48818	0.650000	0.86243	CTA		0.413	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	NM_015396		20	78	0	0	0	0.055883	0	20	78				
NRCAM	4897	broad.mit.edu	37	7	107875082	107875082	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:107875082C>T	ENST00000425651.2	-	3	174	c.175G>A	c.(175-177)Gac>Aac	p.D59N	NRCAM_ENST00000379028.3_Missense_Mutation_p.D59N|NRCAM_ENST00000379022.4_Missense_Mutation_p.D59N|NRCAM_ENST00000413765.2_Missense_Mutation_p.D59N|NRCAM_ENST00000379024.4_Missense_Mutation_p.D59N|NRCAM_ENST00000351718.4_Missense_Mutation_p.D53N	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	59	Ig-like 1.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TCCCGAGGGTCAATAATGTAA	0.368																																						ENST00000379028.3																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						c.(175-177)Gac>Aac		neuronal cell adhesion molecule							104.0	114.0	111.0					7																	107875082		2203	4300	6503	SO:0001583	missense	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107875082C>T		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.175G>A	7.37:g.107875082C>T	ENSP00000401244:p.Asp59Asn					NRCAM_ENST00000425651.2_Missense_Mutation_p.D59N|NRCAM_ENST00000413765.2_Missense_Mutation_p.D59N|NRCAM_ENST00000379024.4_Missense_Mutation_p.D59N|NRCAM_ENST00000351718.4_Missense_Mutation_p.D53N|NRCAM_ENST00000379022.4_Missense_Mutation_p.D59N	p.D59N			Q92823	NRCAM_HUMAN			6	645	-			59			Ig-like 1.		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	c.175G>A	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	C	36	5.952085	0.97139	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979;ENST00000417701;ENST00000442580;ENST00000419936;ENST00000456431;ENST00000418239	T;T;T;T;T;T;T;T;T;T	0.66460	2.69;2.69;2.69;2.69;2.69;2.69;2.69;-0.21;-0.21;-0.21	5.5	5.5	0.81552	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.78419	0.4280	L	0.49699	1.58	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;0.988	T	0.73294	-0.4028	10	0.28530	T	0.3	.	19.7642	0.96334	0.0:1.0:0.0:0.0	.	59;59;59;53;59	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	N	59;59;59;59;53;59;59;59;53;53;59;53;53;59	ENSP00000368314:D59N;ENSP00000407858:D59N;ENSP00000325269:D53N;ENSP00000368310:D59N;ENSP00000401244:D59N;ENSP00000368308:D59N;ENSP00000390421:D53N;ENSP00000390868:D59N;ENSP00000397544:D53N;ENSP00000408203:D53N	ENSP00000325269:D53N	D	-	1	0	NRCAM	107662318	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.755000	0.94549	0.655000	0.94253	GAC		0.368	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		20	55	0	0	0	0.062417	0	20	55				
INF2	64423	broad.mit.edu	37	14	105174903	105174903	+	Silent	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr14:105174903G>A	ENST00000392634.4	+	9	1978	c.1866G>A	c.(1864-1866)cgG>cgA	p.R622R	INF2_ENST00000330634.7_Silent_p.R622R	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	622	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TGGCCCCCCGGGCCAGGAAGG	0.697											OREG0022959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000392634.4																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(1864-1866)cgG>cgA		inverted formin, FH2 and WH2 domain containing							24.0	28.0	27.0					14																	105174903		1841	4075	5916	SO:0001819	synonymous_variant	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105174903G>A	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.1866G>A	14.37:g.105174903G>A			OREG0022959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1387	INF2_ENST00000330634.7_Silent_p.R622R	p.R622R	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	9	1978	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	622			FH2.		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Silent	SNP	ENST00000392634.4	37	c.1866G>A	CCDS9989.2																																																																																				0.697	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		13	28	0	0	0	0.093190	0	13	28				
PRRC2B	84726	broad.mit.edu	37	9	134351594	134351594	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr9:134351594G>C	ENST00000357304.4	+	15	4133	c.4078G>C	c.(4078-4080)Gag>Cag	p.E1360Q	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1360							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CAGGTCCCCTGAGCTCTCCTA	0.672											OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000357304.4																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						c.(4078-4080)Gag>Cag		proline-rich coiled-coil 2B							22.0	27.0	25.0					9																	134351594		1987	4155	6142	SO:0001583	missense	84726						protein binding	g.chr9:134351594G>C	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.4078G>C	9.37:g.134351594G>C	ENSP00000349856:p.Glu1360Gln		OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1610	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron	p.E1360Q	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN			15	4133	+			1360					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	c.4078G>C	CCDS48044.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.3|21.3	4.133868|4.133868	0.77662|0.77662	.|.	.|.	ENSG00000130723|ENSG00000130723	ENST00000357304;ENST00000418650|ENST00000451855	T|.	0.02103|.	4.45|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|.	.|.	.|.	.|.	T|.	0.72630|.	0.3484|.	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	D;D;P|.	0.61080|.	0.989;0.963;0.938|.	P;P;B|.	0.58266|.	0.836;0.572;0.368|.	T|.	0.69018|.	-0.5256|.	9|.	0.62326|.	D|.	0.03|.	.|.	18.7265|18.7265	0.91716|0.91716	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	656;93;1360|.	Q5H9R5;Q5JSZ8;Q5JSZ5|.	.;.;PRC2B_HUMAN|.	Q|S	1360;656|93	ENSP00000349856:E1360Q|.	ENSP00000349856:E1360Q|.	E|X	+|+	1|2	0|2	PRRC2B|PRRC2B	133341415|133341415	1.000000|1.000000	0.71417|0.71417	0.926000|0.926000	0.36857|0.36857	0.924000|0.924000	0.55760|0.55760	9.180000|9.180000	0.94867|0.94867	2.675000|2.675000	0.91044|0.91044	0.655000|0.655000	0.94253|0.94253	GAG|TGA		0.672	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				7	19	0	0	0	0.029380	0	7	19				
ADAMTS9	56999	broad.mit.edu	37	3	64619398	64619398	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:64619398G>A	ENST00000498707.1	-	13	2356	c.2014C>T	c.(2014-2016)Cgc>Tgc	p.R672C	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R644C	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	672	Cys-rich.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GGGACCCAGCGCACATTGGGA	0.512																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(2014-2016)Cgc>Tgc		ADAM metallopeptidase with thrombospondin type 1 motif, 9							243.0	236.0	238.0					3																	64619398		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64619398G>A	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.2014C>T	3.37:g.64619398G>A	ENSP00000418735:p.Arg672Cys					ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R644C	p.R672C	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	13	2356	-		Lung NSC(201;0.00682)	672			Cys-rich.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.2014C>T	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	G	32	5.114511	0.94339	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.03580	3.88;3.88	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.24198	0.0586	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.985	T	0.01874	-1.1256	10	0.87932	D	0	.	19.1729	0.93588	0.0:0.0:1.0:0.0	.	644;672;672;672	B7ZVX9;Q9P2N4-2;Q9P2N4-1;Q9P2N4	.;.;.;ATS9_HUMAN	C	644;672	ENSP00000295903:R644C;ENSP00000418735:R672C	ENSP00000295903:R644C	R	-	1	0	ADAMTS9	64594438	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.476000	0.97823	2.541000	0.85698	0.655000	0.94253	CGC		0.512	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			43	225	0	0	0	0.111260	0	43	225				
NCOA6	23054	broad.mit.edu	37	20	33329679	33329679	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr20:33329679C>T	ENST00000374796.2	-	12	6951	c.4381G>A	c.(4381-4383)Gat>Aat	p.D1461N	NCOA6_ENST00000359003.2_Missense_Mutation_p.D1461N			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1461					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GGCTGCCCATCCTTTTTGGAC	0.448																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(4381-4383)Gat>Aat		nuclear receptor coactivator 6							106.0	97.0	100.0					20																	33329679		2203	4300	6503	SO:0001583	missense	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33329679C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.4381G>A	20.37:g.33329679C>T	ENSP00000363929:p.Asp1461Asn					NCOA6_ENST00000359003.2_Missense_Mutation_p.D1461N	p.D1461N			Q14686	NCOA6_HUMAN			12	6951	-			1461					A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.4381G>A	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.308785	0.60305	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.29397	1.57;1.57	5.31	5.31	0.75309	.	0.218743	0.40222	N	0.001146	T	0.23133	0.0559	N	0.14661	0.345	0.50171	D	0.999852	P	0.36282	0.546	B	0.35550	0.205	T	0.09662	-1.0664	10	0.66056	D	0.02	-10.1577	19.16	0.93527	0.0:1.0:0.0:0.0	.	1461	Q14686	NCOA6_HUMAN	N	1461	ENSP00000363929:D1461N;ENSP00000351894:D1461N	ENSP00000351894:D1461N	D	-	1	0	NCOA6	32793340	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.277000	0.65586	2.758000	0.94735	0.591000	0.81541	GAT		0.448	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		19	67	0	0	0	0.049695	0	19	67				
ADPGK	83440	broad.mit.edu	37	15	73048650	73048650	+	Missense_Mutation	SNP	G	G	C	rs142833607		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr15:73048650G>C	ENST00000311669.8	-	5	875	c.782C>G	c.(781-783)tCt>tGt	p.S261C	ADPGK_ENST00000456471.2_5'Flank|ADPGK_ENST00000567733.1_Intron	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	261	ADPK. {ECO:0000255|PROSITE- ProRule:PRU00584}.				glycolytic process (GO:0006096)	extracellular region (GO:0005576)|membrane (GO:0016020)	ADP-specific glucokinase activity (GO:0043843)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						GTGCAATCCAGAGAGGACCAC	0.517													a|||	1	0.000199681	0.0	0.0	5008	,	,		21224	0.0		0.001	False		,,,				2504	0.0					ENST00000311669.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						c.(781-783)tCt>tGt		ADP-dependent glucokinase							110.0	102.0	105.0					15																	73048650		1894	4128	6022	SO:0001583	missense	83440				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding	g.chr15:73048650G>C	AL136873	CCDS42057.1	15q24.1	2012-07-02			ENSG00000159322	ENSG00000159322			25250	protein-coding gene	gene with protein product		611861				11230166	Standard	NM_031284		Approved	DKFZp434B195, ADP-GK	uc002avf.4	Q9BRR6	OTTHUMG00000172777	ENST00000311669.8:c.782C>G	15.37:g.73048650G>C	ENSP00000312250:p.Ser261Cys					ADPGK_ENST00000567733.1_Intron	p.S261C	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN			5	875	-			261			ADPK.		Q49AU7|Q8NBI1|Q8WZ90|Q96NF8|Q9H0A7	Missense_Mutation	SNP	ENST00000311669.8	37	c.782C>G	CCDS42057.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	a	21.6	4.180035	0.78564	.	.	ENSG00000159322	ENST00000311669;ENST00000443764;ENST00000331065	T	0.66638	-0.22	5.31	4.4	0.53042	.	0.052966	0.85682	D	0.000000	D	0.82356	0.5019	M	0.82716	2.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.996	D	0.85249	0.1043	10	0.87932	D	0	-6.1457	14.1837	0.65590	0.0721:0.0:0.9279:0.0	.	203;261;261	B4DG35;Q9BRR6;Q9BRR6-2	.;ADPGK_HUMAN;.	C	261;180;139	ENSP00000312250:S261C	ENSP00000312250:S261C	S	-	2	0	ADPGK	70835703	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.921000	0.87530	1.252000	0.44001	-0.119000	0.15052	TCT		0.517	ADPGK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420434.1	NM_031284		14	67	0	0	0	0.132662	0	14	67				
CTCF	10664	broad.mit.edu	37	16	67662366	67662366	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr16:67662366C>G	ENST00000264010.4	+	9	2056	c.1612C>G	c.(1612-1614)Ctc>Gtc	p.L538V	CTCF_ENST00000401394.1_Missense_Mutation_p.L210V	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	538					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GAAGCAGCTTCTCGACATGCA	0.547																																					Colon(175;1200 1966 6945 23069 27405)	ENST00000264010.4																			0				breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79						c.(1612-1614)Ctc>Gtc		CCCTC-binding factor (zinc finger protein)							197.0	163.0	174.0					16																	67662366		2198	4300	6498	SO:0001583	missense	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67662366C>G	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1612C>G	16.37:g.67662366C>G	ENSP00000264010:p.Leu538Val					CTCF_ENST00000401394.1_Missense_Mutation_p.L210V	p.L538V	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	9	2056	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	538					B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	ENST00000264010.4	37	c.1612C>G	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.029527	0.93518	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	T;T	0.68331	-0.32;-0.32	5.72	5.72	0.89469	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000013	T	0.82213	0.4988	M	0.76838	2.35	0.80722	D	1	D;D	0.69078	0.997;0.993	P;D	0.67548	0.888;0.952	T	0.82096	-0.0626	10	0.49607	T	0.09	-2.4016	19.488	0.95037	0.0:1.0:0.0:0.0	.	210;538	B5MC38;P49711	.;CTCF_HUMAN	V	538;210	ENSP00000264010:L538V;ENSP00000384707:L210V	ENSP00000264010:L538V	L	+	1	0	CTCF	66219867	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.029000	0.70895	2.702000	0.92279	0.462000	0.41574	CTC		0.547	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		34	62	0	0	0	0.069456	0	34	62				
PSG6	5675	broad.mit.edu	37	19	43421931	43421931	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:43421931G>A	ENST00000292125.2	-	1	58	c.14C>T	c.(13-15)tCa>tTa	p.S5L	PSG6_ENST00000402603.4_Missense_Mutation_p.S5L|PSG6_ENST00000601833.1_Intron|PSG6_ENST00000187910.2_Missense_Mutation_p.S5L	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	5					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GGGAGGGGCTGAGAGGGGTCC	0.597																																						ENST00000187910.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(13-15)tCa>tTa		pregnancy specific beta-1-glycoprotein 6							138.0	118.0	125.0					19																	43421931		2201	4300	6501	SO:0001583	missense	5675							g.chr19:43421931G>A		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.14C>T	19.37:g.43421931G>A	ENSP00000292125:p.Ser5Leu					PSG6_ENST00000292125.2_Missense_Mutation_p.S5L|PSG6_ENST00000601833.1_Intron|PSG6_ENST00000402603.4_Missense_Mutation_p.S5L	p.S5L	NM_001031850.3	NP_001027020.1					1	79	-		Prostate(69;0.00899)						O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	ENST00000292125.2	37	c.14C>T	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	g	8.401	0.841971	0.16963	.	.	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125;ENST00000402456	T;T;T	0.35236	1.32;1.64;1.33	1.47	0.397	0.16314	.	.	.	.	.	T	0.43055	0.1230	M	0.74647	2.275	0.09310	N	1	B;P;P	0.49358	0.035;0.921;0.923	B;P;P	0.50896	0.057;0.628;0.653	T	0.32613	-0.9900	9	0.72032	D	0.01	.	3.8026	0.08764	0.2467:0.0:0.7533:0.0	.	5;5;5	Q00889;Q00889-2;B5MCE1	PSG6_HUMAN;.;.	L	5	ENSP00000187910:S5L;ENSP00000385736:S5L;ENSP00000292125:S5L	ENSP00000187910:S5L	S	-	2	0	PSG6	48113771	0.001000	0.12720	0.001000	0.08648	0.028000	0.11728	0.333000	0.19768	0.192000	0.20272	0.194000	0.17425	TCA		0.597	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		31	101	0	0	0	0.074837	0	31	101				
MCAM	4162	broad.mit.edu	37	11	119181849	119181849	+	Silent	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:119181849G>A	ENST00000264036.4	-	13	1610	c.1596C>T	c.(1594-1596)ctC>ctT	p.L532L	MCAM_ENST00000392814.1_Silent_p.L481L	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	532					anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		TGGAAGTGCTGAGGCCAGTGG	0.577																																						ENST00000392814.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22						c.(1441-1443)ctC>ctT		melanoma cell adhesion molecule							234.0	221.0	226.0					11																	119181849		2199	4295	6494	SO:0001819	synonymous_variant	4162				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane		g.chr11:119181849G>A	X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6934	protein-coding gene	gene with protein product	"""Gicerin"""	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.1596C>T	11.37:g.119181849G>A						MCAM_ENST00000264036.4_Silent_p.L532L	p.L481L			P43121	MUC18_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)	8	2172	-		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	532			Ig-like C2-type 3.		O95812|Q59E86|Q6PHR3|Q6ZTR2	Silent	SNP	ENST00000264036.4	37	c.1443C>T	CCDS31690.1																																																																																				0.577	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388332.2			26	145	0	0	0	0.091800	0	26	145				
T	6862	broad.mit.edu	37	6	166580264	166580264	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr6:166580264G>A	ENST00000296946.2	-	3	755	c.287C>T	c.(286-288)gCg>gTg	p.A96V	T_ENST00000366871.3_Missense_Mutation_p.A96V	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	96					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GTTGTCCGCCGCCACGAAGTC	0.657									Chordoma, Familial Clustering of																													ENST00000296946.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39						c.(286-288)gCg>gTg		T, brachyury homolog (mouse)							60.0	54.0	56.0					6																	166580264		2203	4300	6503	SO:0001583	missense	6862	Chordoma, Familial Clustering of	Familial Cancer Database		anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr6:166580264G>A	AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"""T-boxes"""	11515	protein-coding gene	gene with protein product		601397	"""T brachyury (mouse) homolog"""			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.287C>T	6.37:g.166580264G>A	ENSP00000296946:p.Ala96Val					T_ENST00000366871.3_Missense_Mutation_p.A96V	p.A96V	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)	3	755	-		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)	96					E7ERD6|Q4KMP4	Missense_Mutation	SNP	ENST00000296946.2	37	c.287C>T	CCDS5290.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.942177	0.92526	.	.	ENSG00000164458	ENST00000366876;ENST00000296946;ENST00000366871	T;T;T	0.80033	-1.33;-1.33;-1.33	4.62	4.62	0.57501	p53-like transcription factor, DNA-binding (1);	0.187296	0.46758	D	0.000270	T	0.80576	0.4649	M	0.90082	3.085	0.47476	D	0.99943	P;P;P	0.45283	0.727;0.855;0.561	B;B;B	0.39660	0.158;0.306;0.111	D	0.86500	0.1803	10	0.72032	D	0.01	.	16.8408	0.85968	0.0:0.0:1.0:0.0	.	96;96;96	E7ERD6;O15178;Q4KMP4	.;BRAC_HUMAN;.	V	96	ENSP00000355841:A96V;ENSP00000296946:A96V;ENSP00000355836:A96V	ENSP00000296946:A96V	A	-	2	0	T	166500254	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.095000	0.94175	2.290000	0.77057	0.655000	0.94253	GCG		0.657	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	NM_003181		5	51	0	0	0	0.029380	0	5	51				
KRTAP15-1	254950	broad.mit.edu	37	21	31812666	31812666	+	Silent	SNP	T	T	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr21:31812666T>A	ENST00000334067.3	+	1	70	c.21T>A	c.(19-21)tcT>tcA	p.S7S		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	7						intermediate filament (GO:0005882)				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						ACTGCAGCTCTGGAAACTTCT	0.438																																						ENST00000334067.3																			0				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						c.(19-21)tcT>tcA		keratin associated protein 15-1							97.0	91.0	93.0					21																	31812666		2203	4300	6503	SO:0001819	synonymous_variant	254950					intermediate filament		g.chr21:31812666T>A	AP001708	CCDS13593.1	21q22.1	2008-05-21			ENSG00000186970	ENSG00000186970		"""Keratin associated proteins"""	18927	protein-coding gene	gene with protein product						12359730	Standard	NM_181623		Approved	KAP15.1	uc002yod.3	Q3LI76	OTTHUMG00000057784	ENST00000334067.3:c.21T>A	21.37:g.31812666T>A							p.S7S	NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN			1	70	+			7					Q2M3F4	Silent	SNP	ENST00000334067.3	37	c.21T>A	CCDS13593.1																																																																																				0.438	KRTAP15-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128236.1			14	62	0	0	0	0.146539	0	14	62				
ZSWIM4	65249	broad.mit.edu	37	19	13915816	13915816	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:13915816C>T	ENST00000254323.2	+	3	755	c.566C>T	c.(565-567)tCc>tTc	p.S189F	ZSWIM4_ENST00000440752.2_5'Flank	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	189							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CTGCCCATCTCCGAGACGCTC	0.637											OREG0025298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000254323.2																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(565-567)tCc>tTc		zinc finger, SWIM-type containing 4							54.0	49.0	51.0					19																	13915816		2203	4300	6503	SO:0001583	missense	65249						zinc ion binding	g.chr19:13915816C>T	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.566C>T	19.37:g.13915816C>T	ENSP00000254323:p.Ser189Phe		OREG0025298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	691		p.S189F	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		3	755	+			189						Missense_Mutation	SNP	ENST00000254323.2	37	c.566C>T	CCDS32924.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.201222	0.79015	.	.	ENSG00000132003	ENST00000254323	T	0.45668	0.89	4.81	4.81	0.61882	.	0.000000	0.53938	D	0.000052	T	0.69762	0.3147	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77109	-0.2709	10	0.87932	D	0	-41.3879	15.3756	0.74602	0.0:1.0:0.0:0.0	.	189	Q9H7M6	ZSWM4_HUMAN	F	189	ENSP00000254323:S189F	ENSP00000254323:S189F	S	+	2	0	ZSWIM4	13776816	1.000000	0.71417	0.925000	0.36789	0.487000	0.33371	7.565000	0.82337	2.226000	0.72624	0.561000	0.74099	TCC		0.637	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		5	39	0	0	0	0.014758	0	5	39				
MIR515-2	574465	broad.mit.edu	37	19	54189750	54189750	+	RNA	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:54189750G>A	ENST00000384883.1	+	0	83				MIR1283-1_ENST00000408494.1_RNA|MIR519C_ENST00000385053.1_RNA	NR_030184.1|NR_030187.1				microRNA 515-2																		CTAGAGGGAAGCGCTTTCTGT	0.388																																						ENST00000385053.1																			0																				155.0	151.0	152.0					19																	54189750		1568	3582	5150			574466							g.chr19:54189750G>A			19q13.42	2011-09-12		2008-12-18	ENSG00000207615	ENSG00000207615		"""ncRNAs / Micro RNAs"""	32097	non-coding RNA	RNA, micro				MIRN515-2			Standard	NR_030187		Approved	hsa-mir-515-2					19.37:g.54189750G>A								NR_030188.1						0	28	+									RNA	SNP	ENST00000384883.1	37																																																																																						0.388	MIR515-2-201	KNOWN	basic	miRNA	miRNA		NR_030187		39	126	0	0	0	0.104719	0	39	126				
ZMYND11	10771	broad.mit.edu	37	10	267290	267290	+	Silent	SNP	T	T	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr10:267290T>C	ENST00000397962.3	+	4	860	c.432T>C	c.(430-432)gtT>gtC	p.V144V	ZMYND11_ENST00000535374.1_Intron|ZMYND11_ENST00000397959.3_Intron|ZMYND11_ENST00000602682.1_Intron|ZMYND11_ENST00000309776.4_Silent_p.V104V|ZMYND11_ENST00000403354.1_Intron|ZMYND11_ENST00000381604.4_Silent_p.V104V|ZMYND11_ENST00000381591.1_Silent_p.V144V|ZMYND11_ENST00000381607.4_Intron|ZMYND11_ENST00000381602.4_Silent_p.V104V|ZMYND11_ENST00000509513.2_Silent_p.V144V|ZMYND11_ENST00000545619.1_Intron|ZMYND11_ENST00000402736.1_Silent_p.V144V|ZMYND11_ENST00000558098.2_Silent_p.V144V|ZMYND11_ENST00000381584.1_Silent_p.V127V			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	144					cell cycle (GO:0007049)|cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription elongation from RNA polymerase II promoter (GO:0034243)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AGTGCCCAGTTTGCAGGGTGA	0.453																																						ENST00000309776.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24						c.(310-312)gtT>gtC		zinc finger, MYND-type containing 11							216.0	186.0	196.0					10																	267290		2203	4300	6503	SO:0001819	synonymous_variant	10771				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:267290T>C	X86098	CCDS7052.1, CCDS7053.1, CCDS7052.2, CCDS55696.1, CCDS55697.1, CCDS7053.2, CCDS73060.1, CCDS73061.1	10p14	2011-01-26	2011-01-26		ENSG00000015171	ENSG00000015171		"""Zinc fingers, MYND-type"""	16966	protein-coding gene	gene with protein product		608668	"""zinc finger, MYND domain containing 11"""			7621829, 10734313	Standard	NM_006624		Approved	BS69	uc010pzx.2	Q15326	OTTHUMG00000017526	ENST00000397962.3:c.432T>C	10.37:g.267290T>C						ZMYND11_ENST00000381604.4_Silent_p.V104V|ZMYND11_ENST00000509513.2_Silent_p.V144V|ZMYND11_ENST00000381602.4_Silent_p.V104V|ZMYND11_ENST00000558098.2_Silent_p.V144V|ZMYND11_ENST00000381584.1_Silent_p.V127V|ZMYND11_ENST00000545619.1_Intron|ZMYND11_ENST00000381591.1_Silent_p.V144V|ZMYND11_ENST00000397959.3_Intron|ZMYND11_ENST00000602682.1_Intron|ZMYND11_ENST00000535374.1_Intron|ZMYND11_ENST00000403354.1_Intron|ZMYND11_ENST00000381607.4_Intron|ZMYND11_ENST00000402736.1_Silent_p.V144V|ZMYND11_ENST00000397962.3_Silent_p.V144V	p.V104V	NM_001202466.1|NM_006624.5	NP_001189395.1|NP_006615.2	Q15326	ZMY11_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	4	860	+		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	104					B2R6G8|B7Z293|F6UH50|Q2LD45|Q2LD46|Q2LD47|Q2LD48|Q5VUI1|Q8N4B3	Silent	SNP	ENST00000397962.3	37	c.312T>C	CCDS7052.2																																																																																				0.453	ZMYND11-206	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046382.4	NM_006624		14	78	0	0	0	0.105934	0	14	78				
CYLC1	1538	broad.mit.edu	37	X	83127918	83127918	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chrX:83127918G>C	ENST00000329312.4	+	4	239	c.202G>C	c.(202-204)Gaa>Caa	p.E68Q		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	68					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AAAACTAGAAGAAGGCCAGAA	0.343																																						ENST00000329312.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(202-204)Gaa>Caa		cylicin, basic protein of sperm head cytoskeleton 1							22.0	21.0	22.0					X																	83127918		2193	4291	6484	SO:0001583	missense	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83127918G>C	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.202G>C	X.37:g.83127918G>C	ENSP00000331556:p.Glu68Gln						p.E68Q	NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN			4	239	+			68					A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	c.202G>C	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	g	7.612	0.675030	0.14841	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.47177	0.85	4.58	1.74	0.24563	.	.	.	.	.	T	0.35941	0.0949	L	0.47190	1.495	0.09310	N	1	P;P	0.41102	0.738;0.738	B;B	0.38562	0.276;0.276	T	0.15578	-1.0432	9	0.39692	T	0.17	-10.6099	4.5129	0.11921	0.2133:0.1787:0.608:0.0	.	68;68	P35663;F5H4V5	CYLC1_HUMAN;.	Q	68	ENSP00000331556:E68Q	ENSP00000331556:E68Q	E	+	1	0	CYLC1	83014574	0.714000	0.27936	0.003000	0.11579	0.000000	0.00434	1.225000	0.32551	0.109000	0.17891	-1.005000	0.02491	GAA		0.343	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		3	19	0	0	0	0.115264	0	3	19				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			643955							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			4	14	0	0	0	0.150653	0	4	14				
TICAM1	148022	broad.mit.edu	37	19	4817044	4817044	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:4817044G>A	ENST00000248244.5	-	2	1575	c.1346C>T	c.(1345-1347)tCa>tTa	p.S449L		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	449	TIR.				apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GATGAAAGCTGAGTGGTCTAT	0.632																																						ENST00000248244.5																			0				NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26						c.(1345-1347)tCa>tTa		toll-like receptor adaptor molecule 1							87.0	70.0	76.0					19																	4817044		2203	4300	6503	SO:0001583	missense	148022				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity	g.chr19:4817044G>A	AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.1346C>T	19.37:g.4817044G>A	ENSP00000248244:p.Ser449Leu						p.S449L	NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	2	1575	-			449			TIR.		B3Y691|O75532|Q86XP8|Q96GA0	Missense_Mutation	SNP	ENST00000248244.5	37	c.1346C>T	CCDS12136.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395991	0.62177	.	.	ENSG00000127666	ENST00000248244	T	0.05996	3.36	4.78	3.7	0.42460	.	0.000000	0.33854	N	0.004497	T	0.21631	0.0521	M	0.68952	2.095	0.41576	D	0.98871	D	0.71674	0.998	D	0.78314	0.991	T	0.00885	-1.1527	10	0.87932	D	0	-18.7765	13.0291	0.58833	0.0:0.1626:0.8374:0.0	.	449	Q8IUC6	TCAM1_HUMAN	L	449	ENSP00000248244:S449L	ENSP00000248244:S449L	S	-	2	0	TICAM1	4768044	1.000000	0.71417	0.845000	0.33349	0.129000	0.20672	6.498000	0.73679	1.100000	0.41517	0.313000	0.20887	TCA		0.632	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450435.1	NM_014261		8	57	0	0	0	0.038147	0	8	57				
TUBBP5	643224	broad.mit.edu	37	9	141070317	141070317	+	RNA	SNP	A	A	G	rs181436611		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr9:141070317A>G	ENST00000503395.1	+	0	1397									tubulin, beta pseudogene 5																		CCTCTCTTAAACGGGCTTCGG	0.617																																						ENST00000503395.1																			0																																																			643224							g.chr9:141070317A>G	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070317A>G														0	1397	+									RNA	SNP	ENST00000503395.1	37																																																																																						0.617	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		3	1	0	0	0	0.150653	0	3	1				
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr20:46279860G>A	ENST00000371998.3	+	20	3977	c.3786G>A	c.(3784-3786)caG>caA	p.Q1262Q	NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000372004.3_Silent_p.Q1258Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1262	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q1262Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.567																																						ENST00000372004.3																			1	Substitution - coding silent(1)	p.Q1262Q(1)	endometrium(1)	breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3772-3774)caG>caA		nuclear receptor coactivator 3		G	,,,	10,4396	11.4+/-27.6	1,8,2194	53.0	58.0	56.0		3783,3759,3774,3786	-0.1	0.1	20	dbSNP_134	56	12,8588	9.1+/-34.3	0,12,4288	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NCOA3	NM_001174087.1,NM_001174088.1,NM_006534.3,NM_181659.2	,,,	1,20,6482	AA,AG,GG		0.1395,0.227,0.1692	,,,	1261/1424,1253/1416,1258/1421,1262/1425	46279860	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279860G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3786G>A	20.37:g.46279860G>A						NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q	p.Q1258Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			20	3990	+			1262			Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.3774G>A	CCDS13407.1																																																																																				0.567	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		11	21	0	0	0	0.105934	0	11	21				
ATP8A2	51761	broad.mit.edu	37	13	26436529	26436529	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr13:26436529C>G	ENST00000381655.2	+	33	3308	c.3166C>G	c.(3166-3168)Cca>Gca	p.P1056A	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Missense_Mutation_p.P991A	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	1016					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TCCCATTGCTCCAGATATGAG	0.532																																						ENST00000381655.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72						c.(3166-3168)Cca>Gca		ATPase, aminophospholipid transporter, class I, type 8A, member 2							145.0	134.0	138.0					13																	26436529		2033	4208	6241	SO:0001583	missense	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26436529C>G	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.3166C>G	13.37:g.26436529C>G	ENSP00000371070:p.Pro1056Ala					ATP8A2_ENST00000255283.8_Missense_Mutation_p.P991A|ATP8A2_ENST00000491840.1_3'UTR	p.P1056A	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	33	3308	+		Breast(139;0.0201)|Lung SC(185;0.0225)	1016					Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.3166C>G	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.439554	0.25900	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	D;D	0.91945	-2.94;-2.94	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.87653	0.6231	L	0.33485	1.01	0.80722	D	1	B;B;B	0.22909	0.046;0.077;0.021	B;B;B	0.24155	0.013;0.051;0.013	T	0.83111	-0.0123	10	0.11485	T	0.65	.	18.622	0.91324	0.0:1.0:0.0:0.0	.	991;836;1016	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	A	1056;991;836	ENSP00000371070:P1056A;ENSP00000255283:P991A	ENSP00000255283:P991A	P	+	1	0	ATP8A2	25334529	1.000000	0.71417	0.999000	0.59377	0.414000	0.31173	7.134000	0.77268	2.688000	0.91661	0.655000	0.94253	CCA		0.532	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		7	40	0	0	0	0.038147	0	7	40				
LGALS4	3960	broad.mit.edu	37	19	39299490	39299490	+	Missense_Mutation	SNP	G	G	A	rs537002104		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:39299490G>A	ENST00000307751.4	-	3	710	c.233C>T	c.(232-234)aCg>aTg	p.T78M	LGALS4_ENST00000597803.1_Intron	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	78	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				cell adhesion (GO:0007155)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GCCCTGCAACGTGTTGAAGAC	0.582													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16862	0.0		0.0	False		,,,				2504	0.0					ENST00000307751.4																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(232-234)aCg>aTg		lectin, galactoside-binding, soluble, 4							151.0	118.0	129.0					19																	39299490		2203	4300	6503	SO:0001583	missense	3960				cell adhesion	cytosol|plasma membrane	sugar binding	g.chr19:39299490G>A		CCDS12521.1	19q13.2	2014-03-19	2008-07-25		ENSG00000171747	ENSG00000171747		"""Lectins, galactoside-binding"""	6565	protein-coding gene	gene with protein product	"""galectin 4"""	602518				8063692	Standard	NM_006149		Approved	GAL4	uc002ojg.3	P56470	OTTHUMG00000182608	ENST00000307751.4:c.233C>T	19.37:g.39299490G>A	ENSP00000302100:p.Thr78Met					LGALS4_ENST00000597803.1_Intron	p.T78M	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		3	710	-	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		78			Galectin 1.			Missense_Mutation	SNP	ENST00000307751.4	37	c.233C>T	CCDS12521.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558703	0.65538	.	.	ENSG00000171747	ENST00000307751	T	0.15487	2.42	5.32	5.32	0.75619	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.496641	0.20724	N	0.086851	T	0.46210	0.1381	M	0.85859	2.78	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.43925	-0.9361	10	0.87932	D	0	-9.215	13.5146	0.61533	0.0:0.157:0.843:0.0	.	78;78	B4DKK5;P56470	.;LEG4_HUMAN	M	78	ENSP00000302100:T78M	ENSP00000302100:T78M	T	-	2	0	LGALS4	43991330	0.196000	0.23350	0.151000	0.22473	0.177000	0.22998	2.817000	0.48034	2.489000	0.83994	0.549000	0.68633	ACG		0.582	LGALS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462641.1	NM_006149		11	37	0	0	0	0.080935	0	11	37				
MTMR9	66036	broad.mit.edu	37	8	11152790	11152790	+	Silent	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr8:11152790G>A	ENST00000221086.3	+	2	743	c.270G>A	c.(268-270)ttG>ttA	p.L90L	MTMR9_ENST00000526292.1_Silent_p.L5L	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	90						cytoplasm (GO:0005737)	enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		AGGAATGCTTGAATATAGCCA	0.323																																						ENST00000221086.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16						c.(268-270)ttG>ttA		myotubularin related protein 9							139.0	151.0	147.0					8																	11152790		2203	4299	6502	SO:0001819	synonymous_variant	66036					cytoplasm	phosphatase activity|protein binding	g.chr8:11152790G>A	AJ297823	CCDS5979.1	8p23-p22	2011-06-09	2002-09-05	2002-09-06	ENSG00000104643	ENSG00000104643		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	14596	protein-coding gene	gene with protein product		606260	"""myotubularin related protein 8"""	C8orf9, MTMR8		11472061, 11896452, 12890864	Standard	NM_015458		Approved	DKFZp434K171, LIP-STYX	uc003wtm.3	Q96QG7	OTTHUMG00000090647	ENST00000221086.3:c.270G>A	8.37:g.11152790G>A						MTMR9_ENST00000526292.1_Silent_p.L5L	p.L90L	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)	2	743	+			90					B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	Silent	SNP	ENST00000221086.3	37	c.270G>A	CCDS5979.1																																																																																				0.323	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207307.2	NM_015458		16	115	0	0	0	0.175082	0	16	115				
PLEC	5339	broad.mit.edu	37	8	144997457	144997457	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr8:144997457C>T	ENST00000322810.4	-	31	7220	c.7051G>A	c.(7051-7053)Gcg>Acg	p.A2351T	PLEC_ENST00000345136.3_Missense_Mutation_p.A2214T|PLEC_ENST00000356346.3_Missense_Mutation_p.A2200T|PLEC_ENST00000436759.2_Missense_Mutation_p.A2241T|PLEC_ENST00000527096.1_Missense_Mutation_p.A2237T|PLEC_ENST00000357649.2_Missense_Mutation_p.A2218T|PLEC_ENST00000398774.2_Missense_Mutation_p.A2182T|PLEC_ENST00000354958.2_Missense_Mutation_p.A2192T|PLEC_ENST00000354589.3_Missense_Mutation_p.A2214T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2351	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTGGCCTCCGCCTTCAGCCGC	0.662																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(7051-7053)Gcg>Acg		plectin							13.0	15.0	14.0					8																	144997457		2097	4209	6306	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144997457C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.7051G>A	8.37:g.144997457C>T	ENSP00000323856:p.Ala2351Thr					PLEC_ENST00000398774.2_Missense_Mutation_p.A2182T|PLEC_ENST00000357649.2_Missense_Mutation_p.A2218T|PLEC_ENST00000345136.3_Missense_Mutation_p.A2214T|PLEC_ENST00000354589.3_Missense_Mutation_p.A2214T|PLEC_ENST00000527096.1_Missense_Mutation_p.A2237T|PLEC_ENST00000354958.2_Missense_Mutation_p.A2192T|PLEC_ENST00000436759.2_Missense_Mutation_p.A2241T|PLEC_ENST00000356346.3_Missense_Mutation_p.A2200T	p.A2351T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			31	7220	-			2351			Central fibrous rod domain.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.7051G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.879063	0.33162	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.76709	-1.01;-1.01;-1.04;-1.04;-1.02;-1.01;-1.0;-1.01;-1.01	5.11	5.11	0.69529	.	0.450336	0.19330	U	0.116919	T	0.61726	0.2370	N	0.08118	0	0.35120	D	0.766926	P;P;P;P;P;P;P;P	0.38504	0.634;0.493;0.493;0.501;0.493;0.493;0.634;0.634	B;B;B;B;B;B;B;B	0.35971	0.215;0.215;0.215;0.107;0.215;0.215;0.215;0.215	T	0.69899	-0.5020	10	0.30854	T	0.27	.	18.1196	0.89567	0.0:1.0:0.0:0.0	.	2241;2200;2192;2351;2182;2214;2218;2214	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	T	2214;2218;2214;2182;2351;2192;2200;2241;2237	ENSP00000344848:A2214T;ENSP00000350277:A2218T;ENSP00000346602:A2214T;ENSP00000381756:A2182T;ENSP00000323856:A2351T;ENSP00000347044:A2192T;ENSP00000348702:A2200T;ENSP00000388180:A2241T;ENSP00000434583:A2237T	ENSP00000323856:A2351T	A	-	1	0	PLEC	145069445	0.999000	0.42202	0.988000	0.46212	0.589000	0.36550	2.517000	0.45529	2.372000	0.80975	0.549000	0.68633	GCG		0.662	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		5	11	0	0	0	0.021553	0	5	11				
ABCA13	154664	broad.mit.edu	37	7	48237849	48237849	+	Missense_Mutation	SNP	G	G	A	rs573740053		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:48237849G>A	ENST00000435803.1	+	3	203	c.179G>A	c.(178-180)cGa>cAa	p.R60Q		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	60					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTGCAGCCCCGAGATCTACCC	0.408													G|||	1	0.000199681	0.0	0.0	5008	,	,		12472	0.0		0.001	False		,,,				2504	0.0					ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(178-180)cGa>cAa		ATP-binding cassette, sub-family A (ABC1), member 13							94.0	86.0	88.0					7																	48237849		1834	4081	5915	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48237849G>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.179G>A	7.37:g.48237849G>A	ENSP00000411096:p.Arg60Gln						p.R60Q	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			3	203	+			60					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.179G>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298616	0.60195	.	.	ENSG00000179869	ENST00000435803	D	0.98192	-4.78	5.32	5.32	0.75619	.	0.000000	0.42420	D	0.000711	D	0.98601	0.9532	M	0.66378	2.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.959	D	0.99541	1.0963	10	0.87932	D	0	.	14.4754	0.67541	0.0:0.0:1.0:0.0	.	60;60	Q86UQ4;Q86UQ4-2	ABCAD_HUMAN;.	Q	60	ENSP00000411096:R60Q	ENSP00000409268:R60Q	R	+	2	0	ABCA13	48208404	0.985000	0.35326	0.866000	0.34008	0.304000	0.27724	5.424000	0.66464	2.464000	0.83262	0.555000	0.69702	CGA		0.408	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		6	18	0	0	0	0.038147	0	6	18				
GBP2	2634	broad.mit.edu	37	1	89579771	89579771	+	Silent	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:89579771C>T	ENST00000370466.3	-	7	1345	c.1077G>A	c.(1075-1077)gaG>gaA	p.E359E	GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	359					cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		TGGCCTCTCTCTCACTGTCCC	0.502																																						ENST00000370466.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20						c.(1075-1077)gaG>gaA		guanylate binding protein 2, interferon-inducible							121.0	119.0	119.0					1																	89579771		2203	4300	6503	SO:0001819	synonymous_variant	2634				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89579771C>T	BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645			4183	protein-coding gene	gene with protein product		600412				1715024	Standard	NM_004120		Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.1077G>A	1.37:g.89579771C>T						GBP2_ENST00000463660.1_5'UTR	p.E359E	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN		all cancers(265;0.0151)|Epithelial(280;0.0284)	7	1345	-		Lung NSC(277;0.0908)	359					Q6GPH0|Q6IAU2|Q86TB0	Silent	SNP	ENST00000370466.3	37	c.1077G>A	CCDS719.1																																																																																				0.502	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029406.2	NM_004120		23	97	0	0	0	0.083992	0	23	97				
TMEM135	65084	broad.mit.edu	37	11	86868385	86868385	+	Silent	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:86868385C>T	ENST00000305494.5	+	5	438	c.399C>T	c.(397-399)gcC>gcT	p.A133A	TMEM135_ENST00000535167.1_5'UTR|TMEM135_ENST00000355734.4_Intron|TMEM135_ENST00000532959.1_Silent_p.A4A|TMEM135_ENST00000340353.7_Intron	NM_022918.3	NP_075069.3	Q86UB9	TM135_HUMAN	transmembrane protein 135	133					peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATTTACAGGCCACAGAAACAC	0.303																																						ENST00000305494.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(397-399)gcC>gcT		transmembrane protein 135							94.0	107.0	103.0					11																	86868385		2201	4297	6498	SO:0001819	synonymous_variant	65084					integral to membrane		g.chr11:86868385C>T	BX648678	CCDS8280.1, CCDS53692.1	11q14.2	2006-03-09			ENSG00000166575	ENSG00000166575			26167	protein-coding gene	gene with protein product						12477932	Standard	NM_022918		Approved	FLJ22104	uc001pch.3	Q86UB9	OTTHUMG00000167248	ENST00000305494.5:c.399C>T	11.37:g.86868385C>T						TMEM135_ENST00000340353.7_Intron|TMEM135_ENST00000535167.1_5'UTR|TMEM135_ENST00000532959.1_Silent_p.A4A|TMEM135_ENST00000355734.4_Intron	p.A133A	NM_022918.3	NP_075069.3	Q86UB9	TM135_HUMAN			5	438	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	133					Q6AW91|Q8ND01|Q9H6M3	Silent	SNP	ENST00000305494.5	37	c.399C>T	CCDS8280.1																																																																																				0.303	TMEM135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393875.1	NM_022918		15	57	0	0	0	0.146539	0	15	57				
CYP4B1	1580	broad.mit.edu	37	1	47278285	47278285	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:47278285G>A	ENST00000271153.4	+	4	521	c.485G>A	c.(484-486)cGt>cAt	p.R162H	CYP4B1_ENST00000371919.4_Missense_Mutation_p.R147H|CYP4B1_ENST00000371923.4_Missense_Mutation_p.R162H|CYP4B1_ENST00000452782.2_5'UTR			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	162					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	GAGTCTACACGTATCATGCTG	0.572																																						ENST00000271153.4																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36						c.(484-486)cGt>cAt		cytochrome P450, family 4, subfamily B, polypeptide 1							155.0	131.0	139.0					1																	47278285		2203	4300	6503	SO:0001583	missense	1580				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47278285G>A	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.485G>A	1.37:g.47278285G>A	ENSP00000271153:p.Arg162His					CYP4B1_ENST00000452782.2_5'UTR|CYP4B1_ENST00000371919.4_Missense_Mutation_p.R147H|CYP4B1_ENST00000371923.4_Missense_Mutation_p.R162H	p.R162H			P13584	CP4B1_HUMAN			4	521	+	Acute lymphoblastic leukemia(166;0.155)		162					Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Missense_Mutation	SNP	ENST00000271153.4	37	c.485G>A	CCDS542.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.139856	0.37728	.	.	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919	T;T;T	0.70282	-0.47;-0.47;-0.47	5.91	-11.3	0.00108	.	1.453990	0.04051	N	0.304763	T	0.58481	0.2125	L	0.38175	1.15	0.09310	N	0.999999	B;B;B	0.15930	0.015;0.006;0.007	B;B;B	0.19148	0.011;0.014;0.024	T	0.45862	-0.9232	10	0.31617	T	0.26	.	16.5323	0.84364	0.8222:0.0:0.0966:0.0812	.	147;162;162	Q8IZB0;P13584-2;P13584	.;.;CP4B1_HUMAN	H	162;162;147	ENSP00000360991:R162H;ENSP00000271153:R162H;ENSP00000360987:R147H	ENSP00000271153:R162H	R	+	2	0	CYP4B1	47050872	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.024000	0.12435	-2.319000	0.00643	-0.218000	0.12543	CGT		0.572	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779		20	46	0	0	0	0.076483	0	20	46				
MC4R	4160	broad.mit.edu	37	18	58039474	58039474	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr18:58039474C>T	ENST00000299766.3	-	1	527	c.109G>A	c.(109-111)Gat>Aat	p.D37N		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	37			D -> V (in obesity; dbSNP:rs13447325). {ECO:0000269|PubMed:10199800}.		adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				CACCCTCCATCAGAGTAGCCT	0.512																																						ENST00000299766.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(109-111)Gat>Aat		melanocortin 4 receptor							74.0	71.0	72.0					18																	58039474		2203	4300	6503	SO:0001583	missense	4160				feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding	g.chr18:58039474C>T	AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"""GPCR / Class A : Melanocortin receptors"""	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.109G>A	18.37:g.58039474C>T	ENSP00000299766:p.Asp37Asn						p.D37N	NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN			1	527	-		Colorectal(73;0.0946)	37		D -> V (in obesity; dbSNP:rs13447325).			B2RAC3|Q16317|Q3MIJ6	Missense_Mutation	SNP	ENST00000299766.3	37	c.109G>A	CCDS11976.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.527380	0.27299	.	.	ENSG00000166603	ENST00000299766	T	0.37915	1.17	5.56	5.56	0.83823	.	0.495835	0.19497	N	0.112836	T	0.25606	0.0623	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12293	-1.0553	10	0.52906	T	0.07	.	12.3412	0.55095	0.1687:0.8313:0.0:0.0	.	37	P32245	MC4R_HUMAN	N	37	ENSP00000299766:D37N	ENSP00000299766:D37N	D	-	1	0	MC4R	56190454	0.982000	0.34865	0.168000	0.22838	0.972000	0.66771	2.993000	0.49425	2.777000	0.95525	0.655000	0.94253	GAT		0.512	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256139.1	NM_005912		15	44	0	0	0	0.146539	0	15	44				
NUP205	23165	broad.mit.edu	37	7	135292096	135292096	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:135292096C>T	ENST00000285968.6	+	22	3198	c.3172C>T	c.(3172-3174)Cag>Tag	p.Q1058*		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1058					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						AGAATCTCCTCAGCTGGCTGA	0.498																																						ENST00000285968.6																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(3172-3174)Cag>Tag		nucleoporin 205kDa							83.0	79.0	80.0					7																	135292096		2203	4300	6503	SO:0001587	stop_gained	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135292096C>T	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.3172C>T	7.37:g.135292096C>T	ENSP00000285968:p.Gln1058*						p.Q1058*	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN			22	3198	+			1058					A6H8X3|Q86YC1	Nonsense_Mutation	SNP	ENST00000285968.6	37	c.3172C>T	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	C	43	10.128790	0.99343	.	.	ENSG00000155561	ENST00000285968	.	.	.	5.27	5.27	0.74061	.	0.156254	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-38.7518	19.2461	0.93902	0.0:1.0:0.0:0.0	.	.	.	.	X	1058	.	ENSP00000285968:Q1058X	Q	+	1	0	NUP205	134942636	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	7.776000	0.85560	2.610000	0.88304	0.561000	0.74099	CAG		0.498	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			21	38	0	0	0	0.062417	0	21	38				
AJUBA	84962	broad.mit.edu	37	14	23451250	23451250	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr14:23451250G>A	ENST00000262713.2	-	1	601	c.226C>T	c.(226-228)Cag>Tag	p.Q76*	RP11-298I3.4_ENST00000555294.1_RNA|RP11-298I3.4_ENST00000557615.1_RNA|RP11-298I3.4_ENST00000556503.1_RNA|AJUBA_ENST00000361265.4_Nonsense_Mutation_p.Q76*|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	76	PreLIM.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										GAGCCGCGCTGATTTCGCTCA	0.687																																						ENST00000262713.2																			0											c.(226-228)Cag>Tag		ajuba LIM protein							16.0	19.0	18.0					14																	23451250		2197	4291	6488	SO:0001587	stop_gained	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23451250G>A	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.226C>T	14.37:g.23451250G>A	ENSP00000262713:p.Gln76*					RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Nonsense_Mutation_p.Q76*	p.Q76*	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN			1	601	-			76			PreLIM.		A8MX18|D3DS37	Nonsense_Mutation	SNP	ENST00000262713.2	37	c.226C>T	CCDS9581.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428651	0.43122	.	.	ENSG00000129474	ENST00000262713;ENST00000361265	.	.	.	4.87	3.01	0.34805	.	1.665720	0.03430	N	0.207694	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	8.0601	0.30627	0.091:0.1674:0.7416:0.0	.	.	.	.	X	76	.	ENSP00000262713:Q76X	Q	-	1	0	JUB	22521090	1.000000	0.71417	0.913000	0.36048	0.033000	0.12548	2.131000	0.42074	0.627000	0.30340	-0.258000	0.10820	CAG		0.687	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			5	13	0	0	0	0.014758	0	5	13				
GHR	2690	broad.mit.edu	37	5	42718786	42718786	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:42718786G>A	ENST00000230882.4	+	10	1367	c.1177G>A	c.(1177-1179)Gac>Aac	p.D393N	GHR_ENST00000537449.1_Missense_Mutation_p.D206N|GHR_ENST00000513625.1_3'UTR|GHR_ENST00000357703.3_Missense_Mutation_p.D371N	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	393					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TTGTGAACCTGACATTCTGGA	0.473																																						ENST00000230882.4																			0				NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(1177-1179)Gac>Aac		growth hormone receptor	Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						146.0	113.0	124.0					5																	42718786		2203	4300	6503	SO:0001583	missense	2690				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	g.chr5:42718786G>A		CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.1177G>A	5.37:g.42718786G>A	ENSP00000230882:p.Asp393Asn					GHR_ENST00000537449.1_Missense_Mutation_p.D206N|GHR_ENST00000513625.1_3'UTR|GHR_ENST00000357703.3_Missense_Mutation_p.D371N	p.D393N	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN			10	1367	+		Myeloproliferative disorder(839;0.00878)	393					Q9HCX2	Missense_Mutation	SNP	ENST00000230882.4	37	c.1177G>A	CCDS3940.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489056	0.84962	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000537449	T;T;T	0.51325	0.71;0.71;0.71	5.86	5.86	0.93980	.	0.084044	0.85682	D	0.000000	T	0.79969	0.4538	H	0.95574	3.69	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85109	0.0962	10	0.87932	D	0	-18.3259	20.1882	0.98224	0.0:0.0:1.0:0.0	.	393	P10912	GHR_HUMAN	N	393;371;206	ENSP00000230882:D393N;ENSP00000350335:D371N;ENSP00000442206:D206N	ENSP00000230882:D393N	D	+	1	0	GHR	42754543	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	8.436000	0.90300	2.783000	0.95769	0.591000	0.81541	GAC		0.473	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2	NM_000163		20	76	0	0	0	0.083992	0	20	76				
RANBP2	5903	broad.mit.edu	37	2	109399112	109399112	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:109399112G>A	ENST00000283195.6	+	28	9289	c.9163G>A	c.(9163-9165)Gca>Aca	p.A3055T		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	3055					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGTATCACTGGCAGCAGAATT	0.368																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(9163-9165)Gca>Aca		RAN binding protein 2							115.0	116.0	116.0					2																	109399112		2203	4300	6503	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109399112G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.9163G>A	2.37:g.109399112G>A	ENSP00000283195:p.Ala3055Thr						p.A3055T	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			28	9289	+			3055					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.9163G>A	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.467047	0.26335	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.27890	1.64	5.79	1.73	0.24493	.	.	.	.	.	T	0.24774	0.0601	L	0.52126	1.63	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.33369	-0.9871	9	0.12766	T	0.61	-0.023	9.8734	0.41189	0.3855:0.0:0.6145:0.0	.	3055	P49792	RBP2_HUMAN	T	2079;3055	ENSP00000283195:A3055T	ENSP00000283195:A3055T	A	+	1	0	RANBP2	108765544	0.398000	0.25279	0.980000	0.43619	0.940000	0.58332	0.348000	0.20031	0.122000	0.18314	0.558000	0.71614	GCA		0.368	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		21	87	0	0	0	0.076483	0	21	87				
DNAH11	8701	broad.mit.edu	37	7	21750198	21750198	+	Silent	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:21750198C>G	ENST00000409508.3	+	41	6742	c.6711C>G	c.(6709-6711)ctC>ctG	p.L2237L	DNAH11_ENST00000328843.6_Silent_p.L2244L	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2244	AAA 2. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTATAGGTCTCTTCTCATCCA	0.348									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(6730-6732)ctC>ctG		dynein, axonemal, heavy chain 11							77.0	76.0	76.0					7																	21750198		1919	4167	6086	SO:0001819	synonymous_variant	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21750198C>G	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.6711C>G	7.37:g.21750198C>G						DNAH11_ENST00000409508.3_Silent_p.L2237L	p.L2244L			Q96DT5	DYH11_HUMAN			42	6763	+			2244			AAA 2 (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.6732C>G																																																																																					0.348	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		4	19	0	0	0	0.014758	0	4	19				
KIAA1045	23349	broad.mit.edu	37	9	34976157	34976157	+	Silent	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr9:34976157C>T	ENST00000242315.3	+	4	655	c.573C>T	c.(571-573)atC>atT	p.I191I	KIAA1045_ENST00000544237.1_Silent_p.I191I|KIAA1045_ENST00000476115.2_3'UTR	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	191							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			AGGACAACATCAACTTGCTGC	0.493																																						ENST00000242315.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(571-573)atC>atT		KIAA1045							91.0	91.0	91.0					9																	34976157		1914	4117	6031	SO:0001819	synonymous_variant	23349						calcium ion binding	g.chr9:34976157C>T	AB028968	CCDS43796.1	9p13.2	2008-02-05			ENSG00000122733	ENSG00000122733			29180	protein-coding gene	gene with protein product						10470851	Standard	NM_015297		Approved		uc003zvr.3	Q9UPV7	OTTHUMG00000019844	ENST00000242315.3:c.573C>T	9.37:g.34976157C>T						KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Silent_p.I191I	p.I191I	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		4	655	+			191					B7Z253|Q58FE9|Q5T662	Silent	SNP	ENST00000242315.3	37	c.573C>T	CCDS43796.1																																																																																				0.493	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052256.2	XM_048592		14	36	0	0	0	0.119110	0	14	36				
SLC44A2	57153	broad.mit.edu	37	19	10747142	10747142	+	Silent	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:10747142C>T	ENST00000335757.5	+	15	1753	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F	SLC44A2_ENST00000586078.1_Silent_p.F459F|SLC44A2_ENST00000407327.4_Silent_p.F457F			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	459					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	TGGCCAACTTCGTGCTGGCGC	0.647																																						ENST00000586078.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(1375-1377)ttC>ttT		solute carrier family 44 (choline transporter), member 2	Choline(DB00122)						79.0	81.0	81.0					19																	10747142		2203	4300	6503	SO:0001819	synonymous_variant	57153				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity	g.chr19:10747142C>T	AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"""Solute carriers"""	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.1377C>T	19.37:g.10747142C>T						SLC44A2_ENST00000335757.5_Silent_p.F459F|SLC44A2_ENST00000407327.4_Silent_p.F457F	p.F459F	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		15	1486	+			459					B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Silent	SNP	ENST00000335757.5	37	c.1377C>T	CCDS12245.1																																																																																				0.647	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452045.1			34	76	0	0	0	0.173368	0	34	76				
GPR113	165082	broad.mit.edu	37	2	26533572	26533572	+	Silent	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:26533572G>C	ENST00000311519.1	-	11	3023	c.3024C>G	c.(3022-3024)ctC>ctG	p.L1008L	GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Silent_p.L939L|GPR113_ENST00000333478.6_Silent_p.L809L|GPR113_ENST00000541401.1_Silent_p.L611L	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	1008					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGGGTGTTGAGAATGGTGA	0.517																																						ENST00000333478.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(2425-2427)ctC>ctG		G protein-coupled receptor 113							41.0	36.0	38.0					2																	26533572		2203	4300	6503	SO:0001819	synonymous_variant	165082				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:26533572G>C	AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"""-"", ""GPCR / Class B : Orphans"""	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.3024C>G	2.37:g.26533572G>C						GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Silent_p.L939L|GPR113_ENST00000541401.1_Silent_p.L611L|GPR113_ENST00000311519.1_Silent_p.L1008L	p.L809L	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN			8	3009	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1008					B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Silent	SNP	ENST00000311519.1	37	c.2427C>G	CCDS46239.1																																																																																				0.517	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835		6	10	0	0	0	0.021553	0	6	10				
MAPT	4137	broad.mit.edu	37	17	44061080	44061080	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr17:44061080C>G	ENST00000571987.1	+	5	910	c.910C>G	c.(910-912)Cac>Gac	p.H304D	MAPT_ENST00000576518.1_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.H304D|MAPT_ENST00000262410.5_Missense_Mutation_p.H304D|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000344290.5_Missense_Mutation_p.H304D|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000446361.3_Intron			P10636	TAU_HUMAN	microtubule-associated protein tau	304					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	GTTCACGTTTCACGTGGAAAT	0.622																																						ENST00000344290.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(910-912)Cac>Gac		microtubule-associated protein tau							42.0	48.0	46.0					17																	44061080		2203	4300	6503	SO:0001583	missense	4137				cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton	g.chr17:44061080C>G	J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.910C>G	17.37:g.44061080C>G	ENSP00000458742:p.His304Asp					MAPT_ENST00000351559.5_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.H304D|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000571987.1_Missense_Mutation_p.H304D|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.H304D|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000535772.1_Intron	p.H304D	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN			6	1232	+		Melanoma(429;0.216)	304					P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Missense_Mutation	SNP	ENST00000571987.1	37	c.910C>G	CCDS11501.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116209	0.37339	.	.	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000415613	T;T;T	0.10860	2.85;2.83;2.85	5.17	5.17	0.71159	.	0.160196	0.29972	N	0.010732	T	0.11750	0.0286	L	0.54323	1.7	0.80722	D	1	P;P	0.38504	0.634;0.501	B;B	0.36666	0.23;0.086	T	0.11817	-1.0572	10	0.13853	T	0.58	-7.7075	14.5138	0.67807	0.0:1.0:0.0:0.0	.	304;304	P10636-9;P10636	.;TAU_HUMAN	D	304	ENSP00000340820:H304D;ENSP00000262410:H304D;ENSP00000410838:H304D	ENSP00000262410:H304D	H	+	1	0	MAPT	41416917	0.652000	0.27349	0.996000	0.52242	0.263000	0.26337	1.747000	0.38298	2.580000	0.87095	0.561000	0.74099	CAC		0.622	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835		12	61	0	0	0	0.080935	0	12	61				
REV3L	5980	broad.mit.edu	37	6	111678329	111678329	+	Splice_Site	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr6:111678329C>G	ENST00000358835.3	-	19	7527		c.e19-1		REV3L_ENST00000368802.3_Splice_Site|REV3L_ENST00000435970.1_Splice_Site|REV3L_ENST00000368805.1_Splice_Site			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit						DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TATCTGATATCTAAAAAACAA	0.269								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.e20-1	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							44.0	48.0	47.0					6																	111678329		2203	4296	6499	SO:0001630	splice_region_variant	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111678329C>G	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.7073-1G>C	6.37:g.111678329C>G						REV3L_ENST00000358835.3_Splice_Site|REV3L_ENST00000368802.3_Splice_Site|REV3L_ENST00000368805.1_Splice_Site				O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	20	7655	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)						O43214|Q5TC33	Splice_Site	SNP	ENST00000358835.3	37		CCDS5091.2	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806300	0.70682	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970;ENST00000543871	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3368	0.98748	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	REV3L	111785022	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	6.483000	0.73617	2.805000	0.96524	0.655000	0.94253	.		0.269	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912	Intron	10	35	0	0	0	0.058154	0	10	35				
ZAN	7455	broad.mit.edu	37	7	100346010	100346010	+	RNA	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:100346010C>T	ENST00000348028.3	+	0	1331				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GTCCAGACTTCCGGGGATGGT	0.537																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							65.0	66.0	66.0					7																	100346010		1900	4118	6018			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100346010C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100346010C>T						ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	1314	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	C	12.06	1.823251	0.32237	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.02421	4.3;4.3;4.3	4.82	0.776	0.18532	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.510593	0.14801	N	0.297607	T	0.03651	0.0104	M	0.64676	1.99	0.09310	N	0.999999	B;B	0.25272	0.1;0.122	B;B	0.24269	0.031;0.052	T	0.37103	-0.9720	10	0.87932	D	0	.	3.832	0.08877	0.1761:0.5328:0.0:0.2912	.	389;389	F5H0T8;Q9Y493	.;ZAN_HUMAN	F	389	ENSP00000445943:S389F;ENSP00000445091:S389F;ENSP00000444427:S389F	ENSP00000423579:S389F	S	+	2	0	ZAN	100183946	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.268000	0.08607	0.004000	0.14682	0.555000	0.69702	TCC		0.537	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		12	47	0	0	0	0.093190	0	12	47				
KDR	3791	broad.mit.edu	37	4	55968137	55968137	+	Silent	SNP	G	G	A	rs138304068	byFrequency	TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr4:55968137G>A	ENST00000263923.4	-	15	2488	c.2193C>T	c.(2191-2193)gaC>gaT	p.D731D		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	731	Ig-like C2-type 7.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.D731D(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGAGGCCTTCGTCCTCCTTCC	0.443			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"""NSCLC, angiosarcoma"""		1	Substitution - coding silent(1)	p.D731D(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(2191-2193)gaC>gaT		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)	G		1,4405	2.1+/-5.4	0,1,2202	130.0	122.0	125.0		2193	-3.3	1.0	4	dbSNP_134	125	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KDR	NM_002253.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		731/1357	55968137	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55968137G>A	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2193C>T	4.37:g.55968137G>A		TSP Lung(20;0.16)					p.D731D	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		15	2488	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		731			Ig-like C2-type 7.		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Silent	SNP	ENST00000263923.4	37	c.2193C>T	CCDS3497.1																																																																																				0.443	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			18	65	0	0	0	0.049695	0	18	65				
KYNU	8942	broad.mit.edu	37	2	143799685	143799685	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:143799685T>C	ENST00000264170.4	+	14	1600	c.1342T>C	c.(1342-1344)Tat>Cat	p.Y448H	KYNU_ENST00000409512.1_Missense_Mutation_p.Y448H	NM_003937.2	NP_003928.1			kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		ccatgatgtttataaaTTTAC	0.363																																						ENST00000264170.4																			0				large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36						c.(1342-1344)Tat>Cat		kynureninase	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)						110.0	110.0	110.0					2																	143799685		2203	4299	6502	SO:0001583	missense	8942				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	g.chr2:143799685T>C	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.1342T>C	2.37:g.143799685T>C	ENSP00000264170:p.Tyr448His					KYNU_ENST00000409512.1_Missense_Mutation_p.Y448H	p.Y448H	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.072)	14	1600	+			448						Missense_Mutation	SNP	ENST00000264170.4	37	c.1342T>C	CCDS2183.1	.	.	.	.	.	.	.	.	.	.	T	10.03	1.239133	0.22711	.	.	ENSG00000115919	ENST00000264170;ENST00000409512	T;T	0.54479	0.57;0.57	5.09	5.09	0.68999	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.305040	0.36101	N	0.002795	T	0.35998	0.0951	N	0.20610	0.595	0.80722	D	1	B	0.14438	0.01	B	0.15484	0.013	T	0.15838	-1.0423	10	0.25751	T	0.34	.	11.4247	0.50003	0.0:0.0:0.0:1.0	.	448	Q16719	KYNU_HUMAN	H	448	ENSP00000264170:Y448H;ENSP00000386731:Y448H	ENSP00000264170:Y448H	Y	+	1	0	KYNU	143516155	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	0.619000	0.24388	2.263000	0.75096	0.528000	0.53228	TAT		0.363	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998		13	63	0	0	0	0.105934	0	13	63				
HECTD4	283450	broad.mit.edu	37	12	112703016	112703016	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr12:112703016G>C	ENST00000430131.2	-	15	2431	c.1286C>G	c.(1285-1287)tCt>tGt	p.S429C	HECTD4_ENST00000377560.5_Missense_Mutation_p.S679C|HECTD4_ENST00000550722.1_Missense_Mutation_p.S717C|RN7SKP71_ENST00000364558.1_RNA			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	429					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)										ATCATCTTTAGAGACAGTTTG	0.313																																						ENST00000550722.1																			0											c.(2149-2151)tCt>tGt		HECT domain containing E3 ubiquitin protein ligase 4							101.0	108.0	105.0					12																	112703016		2203	4299	6502	SO:0001583	missense	283450							g.chr12:112703016G>C	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.1286C>G	12.37:g.112703016G>C	ENSP00000404379:p.Ser429Cys					HECTD4_ENST00000430131.2_Missense_Mutation_p.S429C|HECTD4_ENST00000377560.5_Missense_Mutation_p.S679C	p.S717C	NM_001109662.3	NP_001103132.3					16	2545	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.2150C>G		.	.	.	.	.	.	.	.	.	.	G	29.9	5.049508	0.93740	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.52057	0.68;0.69;0.68	5.74	5.74	0.90152	.	0.056697	0.64402	D	0.000001	T	0.43656	0.1257	N	0.08118	0	0.48452	D	0.999656	P;P;P	0.44578	0.828;0.838;0.729	P;P;P	0.49953	0.627;0.62;0.627	T	0.53180	-0.8475	10	0.87932	D	0	.	19.9346	0.97133	0.0:0.0:1.0:0.0	.	429;429;429	Q9Y4D8-2;Q9Y4D8;Q9Y4D8-3	.;K0614_HUMAN;.	C	679;429;717	ENSP00000366783:S679C;ENSP00000404379:S429C;ENSP00000449784:S717C	ENSP00000366783:S679C	S	-	2	0	C12orf51	111187399	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.320000	0.96346	2.712000	0.92718	0.563000	0.77884	TCT		0.313	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		13	40	0	0	0	0.093190	0	13	40				
GPC5	2262	broad.mit.edu	37	13	92101090	92101090	+	Missense_Mutation	SNP	C	C	T	rs559277707		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr13:92101090C>T	ENST00000377067.3	+	2	611	c.239C>T	c.(238-240)gCg>gTg	p.A80V		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	80					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TATCAGATTGCGGCTCGCCAG	0.433													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18864	0.0		0.0	False		,,,				2504	0.0					ENST00000377067.3																			0				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(238-240)gCg>gTg		glypican 5							143.0	133.0	136.0					13																	92101090		2203	4300	6503	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92101090C>T	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.239C>T	13.37:g.92101090C>T	ENSP00000366267:p.Ala80Val						p.A80V	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN			2	611	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	80					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.239C>T	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	C	8.422	0.846542	0.16963	.	.	ENSG00000179399	ENST00000377067	T	0.50813	0.73	5.5	2.87	0.33458	.	0.053771	0.64402	N	0.000001	T	0.33265	0.0857	L	0.36672	1.1	0.31381	N	0.678985	B	0.21606	0.058	B	0.24394	0.053	T	0.30880	-0.9963	10	0.17832	T	0.49	.	8.2657	0.31813	0.0:0.6973:0.0:0.3027	.	80	P78333	GPC5_HUMAN	V	80	ENSP00000366267:A80V	ENSP00000366267:A80V	A	+	2	0	GPC5	90899091	0.598000	0.26882	0.007000	0.13788	0.136000	0.21042	1.171000	0.31896	0.301000	0.22738	0.467000	0.42956	GCG		0.433	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		17	50	0	0	0	0.062417	0	17	50				
CCP110	9738	broad.mit.edu	37	16	19548342	19548342	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr16:19548342G>A	ENST00000381396.5	+	4	1598	c.1351G>A	c.(1351-1353)Gaa>Aaa	p.E451K	CCP110_ENST00000396208.2_Missense_Mutation_p.E451K|CCP110_ENST00000396212.2_Missense_Mutation_p.E451K	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	451	Interaction with CEP76.				cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						TGAAGTCAAAGAAGATGTGGT	0.358																																						ENST00000396212.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						c.(1351-1353)Gaa>Aaa		centriolar coiled coil protein 110kDa							97.0	98.0	98.0					16																	19548342		2197	4300	6497	SO:0001583	missense	9738				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding	g.chr16:19548342G>A	AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.1351G>A	16.37:g.19548342G>A	ENSP00000370803:p.Glu451Lys					CCP110_ENST00000381396.5_Missense_Mutation_p.E451K|CCP110_ENST00000396208.2_Missense_Mutation_p.E451K	p.E451K	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN			5	1787	+			451			Interaction with CEP76.		B7WP23|O43335|Q68DV9|Q8NE13	Missense_Mutation	SNP	ENST00000381396.5	37	c.1351G>A	CCDS55992.1	.	.	.	.	.	.	.	.	.	.	G	4.542	0.100537	0.08731	.	.	ENSG00000103540	ENST00000396212;ENST00000381396;ENST00000396208	T;T;T	0.14766	2.48;2.48;2.48	5.95	3.99	0.46301	.	0.862877	0.10344	N	0.685907	T	0.07773	0.0195	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.42799	-0.9430	10	0.15952	T	0.53	-2.0E-4	7.2191	0.25977	0.1591:0.1677:0.6733:0.0	.	451;451	O43303;O43303-2	CP110_HUMAN;.	K	451	ENSP00000379515:E451K;ENSP00000370803:E451K;ENSP00000379511:E451K	ENSP00000370803:E451K	E	+	1	0	CCP110	19455843	0.633000	0.27181	0.006000	0.13384	0.022000	0.10575	2.868000	0.48436	0.832000	0.34804	0.563000	0.77884	GAA		0.358	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254284.2	NM_014711		13	70	0	0	0	0.119110	0	13	70				
CNDP2	55748	broad.mit.edu	37	18	72180833	72180833	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr18:72180833G>A	ENST00000324262.4	+	8	1098	c.782G>A	c.(781-783)gGc>gAc	p.G261D	CNDP2_ENST00000324301.8_Missense_Mutation_p.G177D|CNDP2_ENST00000579847.1_Missense_Mutation_p.G261D	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	261					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		CTGATCCCCGGCATTAACGAG	0.607																																						ENST00000324262.4																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24						c.(781-783)gGc>gAc		CNDP dipeptidase 2 (metallopeptidase M20 family)							63.0	53.0	57.0					18																	72180833		2203	4300	6503	SO:0001583	missense	55748					cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity	g.chr18:72180833G>A	AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"""cytosolic nonspecific dipeptidase"""	169800	"""peptidase A"""	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.782G>A	18.37:g.72180833G>A	ENSP00000325548:p.Gly261Asp					CNDP2_ENST00000579847.1_Missense_Mutation_p.G261D|CNDP2_ENST00000324301.8_Missense_Mutation_p.G177D	p.G261D	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.22)	8	1098	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	261					B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Missense_Mutation	SNP	ENST00000324262.4	37	c.782G>A	CCDS12006.1	.	.	.	.	.	.	.	.	.	.	G	36	5.605833	0.96626	.	.	ENSG00000133313	ENST00000324262;ENST00000324301	T	0.24723	1.84	5.74	5.74	0.90152	Peptidase M20, dimerisation (1);	0.045002	0.85682	D	0.000000	T	0.56217	0.1970	M	0.91561	3.22	0.80722	D	1	P;P	0.49090	0.919;0.743	P;P	0.54499	0.754;0.74	T	0.64799	-0.6322	10	0.62326	D	0.03	2.1295	19.914	0.97034	0.0:0.0:1.0:0.0	.	177;261	Q96KP4-2;Q96KP4	.;CNDP2_HUMAN	D	261;177	ENSP00000325548:G261D	ENSP00000325548:G261D	G	+	2	0	CNDP2	70331813	1.000000	0.71417	0.985000	0.45067	0.824000	0.46624	5.534000	0.67167	2.700000	0.92200	0.655000	0.94253	GGC		0.607	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1	NM_018235		3	30	0	0	0	0.115264	0	3	30				
NEIL3	55247	broad.mit.edu	37	4	178272586	178272586	+	Missense_Mutation	SNP	C	C	T	rs376062379		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr4:178272586C>T	ENST00000264596.3	+	7	1040	c.922C>T	c.(922-924)Cat>Tat	p.H308Y	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	308					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CAGGGTGGATCATGTTATGGA	0.398								Base excision repair (BER), DNA glycosylases																														ENST00000264596.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(922-924)Cat>Tat	Base excision repair (BER), DNA glycosylases	nei endonuclease VIII-like 3 (E. coli)		C	TYR/HIS	0,4406		0,0,2203	154.0	144.0	147.0		922	0.2	0.0	4		147	1,8599	1.2+/-3.3	0,1,4299	no	missense	NEIL3	NM_018248.2	83	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	308/606	178272586	1,13005	2203	4300	6503	SO:0001583	missense	55247				base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding	g.chr4:178272586C>T	AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 3"""	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.922C>T	4.37:g.178272586C>T	ENSP00000264596:p.His308Tyr					RP11-376O6.2_ENST00000506895.1_RNA	p.H308Y	NM_018248.2	NP_060718.2	Q8TAT5	NEIL3_HUMAN		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)	7	1040	+		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)	308					Q2PPJ3|Q8NG51|Q9NV95	Missense_Mutation	SNP	ENST00000264596.3	37	c.922C>T	CCDS3828.1	.	.	.	.	.	.	.	.	.	.	C	0.054	-1.241242	0.01493	0.0	1.16E-4	ENSG00000109674	ENST00000264596	T	0.03889	3.77	4.89	0.195	0.15151	.	1.028630	0.07636	N	0.929403	T	0.04497	0.0123	L	0.43152	1.355	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.49113	-0.8973	10	0.14252	T	0.57	-1.1798	5.5596	0.17135	0.0:0.4244:0.2703:0.3053	.	308	Q8TAT5	NEIL3_HUMAN	Y	308	ENSP00000264596:H308Y	ENSP00000264596:H308Y	H	+	1	0	NEIL3	178509580	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	0.258000	0.18387	0.021000	0.15133	0.655000	0.94253	CAT		0.398	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1	NM_018248		34	75	0	0	0	0.173368	0	34	75				
TMEM183A	92703	broad.mit.edu	37	1	202992016	202992016	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:202992016C>T	ENST00000367242.3	+	8	1059	c.979C>T	c.(979-981)Cat>Tat	p.H327Y		NM_001079809.1|NM_138391.4	NP_001073277.1|NP_612400.3	Q8IXX5	T183A_HUMAN	transmembrane protein 183A	327						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(1)|skin(3)	7			BRCA - Breast invasive adenocarcinoma(75;0.18)			CATGCGGCATCATCGAGTGAG	0.488																																						ENST00000367242.3																			0				endometrium(1)|large_intestine(2)|lung(1)|skin(3)	7						c.(979-981)Cat>Tat		transmembrane protein 183A							171.0	170.0	170.0					1																	202992016		2203	4300	6503	SO:0001583	missense	92703							g.chr1:202992016C>T	BC013073	CCDS1432.1	1q31.1	2008-09-09	2006-12-18	2006-12-18	ENSG00000163444	ENSG00000163444			20173	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 37"""	C1orf37			Standard	NM_138391		Approved		uc001gyu.1	Q8IXX5	OTTHUMG00000042051	ENST00000367242.3:c.979C>T	1.37:g.202992016C>T	ENSP00000356211:p.His327Tyr						p.H327Y	NM_001079809.1|NM_138391.4	NP_001073277.1|NP_612400.3			BRCA - Breast invasive adenocarcinoma(75;0.18)		8	1059	+								A8K5W1|Q6NW15|Q96E06	Missense_Mutation	SNP	ENST00000367242.3	37	c.979C>T	CCDS1432.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519868	0.85495	.	.	ENSG00000163444	ENST00000367242	T	0.23552	1.9	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.34048	0.0884	L	0.35593	1.075	0.80722	D	1	P;P	0.51537	0.865;0.946	P;P	0.53313	0.618;0.723	T	0.01725	-1.1287	10	0.40728	T	0.16	-13.421	18.8565	0.92254	0.0:1.0:0.0:0.0	.	327;327	Q1AE95;Q8IXX5	T183B_HUMAN;T183A_HUMAN	Y	327	ENSP00000356211:H327Y	ENSP00000356211:H327Y	H	+	1	0	TMEM183A	201258639	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.692000	0.84203	2.614000	0.88457	0.655000	0.94253	CAT		0.488	TMEM183A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100129.1	NM_138391		31	114	0	0	0	0.111260	0	31	114				
GYS2	2998	broad.mit.edu	37	12	21757451	21757451	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr12:21757451C>A	ENST00000261195.2	-	1	330	c.76G>T	c.(76-78)Gag>Tag	p.E26*		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	26					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AGTAACTCCTCCACAGGAAGT	0.507																																					Colon(149;9 1820 3690 10544 50424)	ENST00000261195.2																			0				NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(76-78)Gag>Tag		glycogen synthase 2 (liver)							109.0	106.0	107.0					12																	21757451		2203	4299	6502	SO:0001587	stop_gained	2998				glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	g.chr12:21757451C>A		CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.76G>T	12.37:g.21757451C>A	ENSP00000261195:p.Glu26*						p.E26*	NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN			1	330	-			26					A0AVD8	Nonsense_Mutation	SNP	ENST00000261195.2	37	c.76G>T	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	C	40	8.410750	0.98799	.	.	ENSG00000111713	ENST00000261195	.	.	.	5.28	5.28	0.74379	.	0.051018	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-21.5348	15.9549	0.79880	0.0:1.0:0.0:0.0	.	.	.	.	X	26	.	ENSP00000261195:E26X	E	-	1	0	GYS2	21648718	1.000000	0.71417	0.978000	0.43139	0.983000	0.72400	5.685000	0.68204	2.756000	0.94617	0.655000	0.94253	GAG		0.507	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957		4	101	1	0	0.150653	0.150653	0.153523	4	101				
EPM2AIP1	9852	broad.mit.edu	37	3	37034418	37034418	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:37034418C>T	ENST00000322716.5	-	1	377	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K	MLH1_ENST00000539477.1_5'Flank|MLH1_ENST00000231790.2_5'Flank|MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000458205.2_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	51					positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						ACGTCGCGTTCGCGGGTAGCT	0.677																																						ENST00000322716.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						c.(151-153)Gaa>Aaa		EPM2A (laforin) interacting protein 1							30.0	36.0	34.0					3																	37034418		2047	4197	6244	SO:0001583	missense	9852					endoplasmic reticulum		g.chr3:37034418C>T	AB018309	CCDS46790.1	3p22.1	2003-03-26							19735	protein-coding gene	gene with protein product		607911					Standard	NM_014805		Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.151G>A	3.37:g.37034418C>T	ENSP00000406027:p.Glu51Lys						p.E51K	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN			1	377	-			51					O94866|Q9H3L3	Missense_Mutation	SNP	ENST00000322716.5	37	c.151G>A	CCDS46790.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174588	0.78452	.	.	ENSG00000178567	ENST00000322716	T	0.15372	2.43	5.39	4.52	0.55395	.	.	.	.	.	T	0.14570	0.0352	L	0.48642	1.525	0.36866	D	0.888671	P	0.49961	0.93	B	0.40565	0.333	T	0.16867	-1.0388	9	0.24483	T	0.36	0.3569	9.9482	0.41623	0.0:0.9091:0.0:0.0909	.	51	Q7L775	EPMIP_HUMAN	K	51	ENSP00000406027:E51K	ENSP00000406027:E51K	E	-	1	0	EPM2AIP1	37009422	1.000000	0.71417	0.942000	0.38095	0.906000	0.53458	3.486000	0.53215	1.514000	0.48869	-0.140000	0.14226	GAA		0.677	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470593.1	NM_014805		9	30	0	0	0	0.047766	0	9	30				
MAGEA10	4109	broad.mit.edu	37	X	151303720	151303720	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chrX:151303720C>T	ENST00000370323.4	-	4	689	c.373G>A	c.(373-375)Gac>Aac	p.D125N	MAGEA10_ENST00000244096.3_Missense_Mutation_p.D125N|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	125						nucleus (GO:0005634)		p.D125H(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GACTCACTGTCTGGCAGGACC	0.502																																						ENST00000370323.4																			1	Substitution - Missense(1)	p.D125H(1)	prostate(1)	endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(373-375)Gac>Aac		melanoma antigen family A, 10							146.0	141.0	142.0					X																	151303720		2203	4300	6503	SO:0001583	missense	4109							g.chrX:151303720C>T		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.373G>A	X.37:g.151303720C>T	ENSP00000359347:p.Asp125Asn					MAGEA10_ENST00000244096.3_Missense_Mutation_p.D125N|RP11-1007I13.4_ENST00000509345.2_RNA	p.D125N	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN			4	689	-	Acute lymphoblastic leukemia(192;6.56e-05)		125						Missense_Mutation	SNP	ENST00000370323.4	37	c.373G>A	CCDS14705.1	.	.	.	.	.	.	.	.	.	.	C	5.243	0.230305	0.09969	.	.	ENSG00000124260	ENST00000370323;ENST00000244096;ENST00000444834;ENST00000427322	T;T;T;T	0.04809	4.74;4.74;3.95;3.55	2.33	0.192	0.15134	.	2.253510	0.01983	N	0.044980	T	0.05135	0.0137	L	0.39397	1.21	0.09310	N	1	B	0.24483	0.104	B	0.24701	0.055	T	0.39014	-0.9634	10	0.26408	T	0.33	.	2.4467	0.04508	0.3665:0.43:0.0:0.2034	.	125	P43363	MAGAA_HUMAN	N	125	ENSP00000359347:D125N;ENSP00000244096:D125N;ENSP00000406161:D125N;ENSP00000391977:D125N	ENSP00000244096:D125N	D	-	1	0	MAGEA10	151054376	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.566000	0.05922	-0.045000	0.13468	0.292000	0.19580	GAC		0.502	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		47	146	0	0	0	0.139131	0	47	146				
LRRC1	55227	broad.mit.edu	37	6	53761313	53761313	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr6:53761313C>T	ENST00000370888.1	+	5	741	c.464C>T	c.(463-465)tCa>tTa	p.S155L		NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	155						cytoplasm (GO:0005737)|membrane (GO:0016020)				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		AACCTGGCTTCACTGGAACTG	0.368																																						ENST00000370888.1																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(463-465)tCa>tTa		leucine rich repeat containing 1							166.0	177.0	173.0					6																	53761313		2203	4300	6503	SO:0001583	missense	55227					cytoplasm|membrane		g.chr6:53761313C>T	AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"""leucine-rich repeat-containing 1"""				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.464C>T	6.37:g.53761313C>T	ENSP00000359925:p.Ser155Leu						p.S155L	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0745)	5	741	+	Lung NSC(77;0.0147)		155					Q5TGN3|Q9HAC0|Q9NVF1	Missense_Mutation	SNP	ENST00000370888.1	37	c.464C>T	CCDS4953.2	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436048	0.83885	.	.	ENSG00000137269	ENST00000370888	T	0.10099	2.91	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000001	T	0.07818	0.0196	N	0.20401	0.57	0.80722	D	1	P	0.45986	0.87	P	0.52793	0.709	T	0.44787	-0.9305	10	0.17369	T	0.5	.	18.4928	0.90853	0.0:1.0:0.0:0.0	.	155	Q9BTT6	LRRC1_HUMAN	L	155	ENSP00000359925:S155L	ENSP00000359925:S155L	S	+	2	0	LRRC1	53869272	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.132000	0.77251	2.618000	0.88619	0.655000	0.94253	TCA		0.368	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040970.2	NM_025168		14	51	0	0	0	0.132662	0	14	51				
HN1L	90861	broad.mit.edu	37	16	1741947	1741947	+	Silent	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr16:1741947C>T	ENST00000248098.3	+	3	354	c.297C>T	c.(295-297)gtC>gtT	p.V99V	HN1L_ENST00000561516.1_Intron|HN1L_ENST00000569256.1_3'UTR|HN1L_ENST00000562684.1_Silent_p.V127V|HN1L_ENST00000382710.4_Silent_p.V87V|HN1L_ENST00000569765.1_Intron|HN1L_ENST00000382711.5_Silent_p.V83V	NM_144570.2	NP_653171.1	Q9H910	HN1L_HUMAN	hematological and neurological expressed 1-like	99						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	9						GGTCTCCGGTCACTGCCACTT	0.542																																						ENST00000248098.3																			0				endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	9						c.(295-297)gtC>gtT		hematological and neurological expressed 1-like							128.0	105.0	113.0					16																	1741947		2199	4300	6499	SO:0001819	synonymous_variant	90861					cytoplasm|nucleus		g.chr16:1741947C>T	AK023154	CCDS10441.1	16p13.3	2006-12-13	2006-12-13	2006-12-13	ENSG00000206053	ENSG00000206053			14137	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 34"""	C16orf34		15094197	Standard	NM_144570		Approved	FLJ13092, L11, KIAA1426	uc002cmg.3	Q9H910	OTTHUMG00000047859	ENST00000248098.3:c.297C>T	16.37:g.1741947C>T						HN1L_ENST00000382711.5_Silent_p.V83V|HN1L_ENST00000561516.1_Intron|HN1L_ENST00000382710.4_Silent_p.V87V|HN1L_ENST00000562684.1_Silent_p.V127V|HN1L_ENST00000569765.1_Intron|HN1L_ENST00000569256.1_3'UTR	p.V99V	NM_144570.2	NP_653171.1	Q9H910	HN1L_HUMAN			3	354	+			99					B1AJY2|Q6EIC7	Silent	SNP	ENST00000248098.3	37	c.297C>T	CCDS10441.1																																																																																				0.542	HN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109086.2	NM_144570		15	46	0	0	0	0.160694	0	15	46				
SLC9A3	6550	broad.mit.edu	37	5	482690	482690	+	Missense_Mutation	SNP	G	G	C	rs141238439		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:482690G>C	ENST00000264938.3	-	7	1338	c.1329C>G	c.(1327-1329)atC>atG	p.I443M	CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.7_ENST00000607286.1_RNA|SLC9A3_ENST00000514375.1_Missense_Mutation_p.I443M|CTD-2228K2.7_ENST00000607005.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	443					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			AGAACACTACGATGATGGTGG	0.662																																						ENST00000264938.3																			0				NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(1327-1329)atC>atG		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3							100.0	88.0	92.0					5																	482690		2203	4300	6503	SO:0001583	missense	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:482690G>C		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.1329C>G	5.37:g.482690G>C	ENSP00000264938:p.Ile443Met					SLC9A3_ENST00000514375.1_Missense_Mutation_p.I443M	p.I443M	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		7	1338	-			443					B7ZKR2|E9PF67|Q3MIW3	Missense_Mutation	SNP	ENST00000264938.3	37	c.1329C>G	CCDS3855.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.606147	0.28623	.	.	ENSG00000066230	ENST00000264938;ENST00000514375	T;T	0.17528	2.27;2.27	4.13	-4.25	0.03766	Cation/H+ exchanger (1);	0.338236	0.29594	N	0.011710	T	0.26011	0.0634	L	0.45698	1.435	0.36482	D	0.867937	D;D	0.55800	0.973;0.959	D;P	0.68621	0.959;0.866	T	0.04386	-1.0955	10	0.66056	D	0.02	.	9.8806	0.41231	0.6957:0.1096:0.1947:0.0	.	443;443	E9PF67;P48764	.;SL9A3_HUMAN	M	443	ENSP00000264938:I443M;ENSP00000422983:I443M	ENSP00000264938:I443M	I	-	3	3	SLC9A3	535690	0.011000	0.17503	0.220000	0.23810	0.383000	0.30230	-1.060000	0.03475	-1.065000	0.03168	-0.258000	0.10820	ATC		0.662	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		15	66	0	0	0	0.132662	0	15	66				
CES3	23491	broad.mit.edu	37	16	67005131	67005131	+	Silent	SNP	G	G	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr16:67005131G>T	ENST00000303334.4	+	10	1271	c.1200G>T	c.(1198-1200)tcG>tcT	p.S400S	CES3_ENST00000543856.1_Silent_p.S39S|CES3_ENST00000394037.1_Silent_p.S400S	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	400						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GAAGCAACTCGGACGCACAAG	0.537																																						ENST00000303334.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24						c.(1198-1200)tcG>tcT		carboxylesterase 3							127.0	107.0	114.0					16																	67005131		2200	4300	6500	SO:0001819	synonymous_variant	23491					endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:67005131G>T	AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"""Carboxylesterases"""	1865	protein-coding gene	gene with protein product	"""esterase 31"", ""brain carboxylesterase BR3"""	605279	"""carboxylesterase 3 (brain)"""			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.1200G>T	16.37:g.67005131G>T						CES3_ENST00000394037.1_Silent_p.S400S|CES3_ENST00000543856.1_Silent_p.S39S	p.S400S	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)	10	1271	+		Ovarian(137;0.0563)	400					B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Silent	SNP	ENST00000303334.4	37	c.1200G>T	CCDS10826.1																																																																																				0.537	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268848.1	NM_024922		16	33	1	0	2.32078e-09	0.132662	2.45057e-09	16	33				
NLRP6	171389	broad.mit.edu	37	11	280967	280967	+	Silent	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:280967G>A	ENST00000312165.5	+	4	1233	c.1233G>A	c.(1231-1233)acG>acA	p.T411T	NLRP6_ENST00000534750.1_Silent_p.T411T	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	411	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGTCGCGCACGTCCAAGACCA	0.652																																						ENST00000534750.1																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(1231-1233)acG>acA		NLR family, pyrin domain containing 6							116.0	115.0	115.0					11																	280967		2203	4300	6503	SO:0001819	synonymous_variant	171389					cytoplasm	ATP binding	g.chr11:280967G>A	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1233G>A	11.37:g.280967G>A						NLRP6_ENST00000312165.5_Silent_p.T411T	p.T411T	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	1438	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	411			NACHT.		A8K9F3|E9PJZ8	Silent	SNP	ENST00000312165.5	37	c.1233G>A	CCDS7693.1																																																																																				0.652	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		43	134	0	0	0	0.098360	0	43	134				
PDE4D	5144	broad.mit.edu	37	5	58289223	58289223	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:58289223C>G	ENST00000340635.6	-	7	1166	c.991G>C	c.(991-993)Gag>Cag	p.E331Q	PDE4D_ENST00000507116.1_Missense_Mutation_p.E267Q|PDE4D_ENST00000503258.1_Missense_Mutation_p.E201Q|PDE4D_ENST00000502484.2_Missense_Mutation_p.E270Q|PDE4D_ENST00000317118.8_Missense_Mutation_p.E40Q|PDE4D_ENST00000358923.6_Missense_Mutation_p.E29Q|PDE4D_ENST00000360047.5_Missense_Mutation_p.E195Q|PDE4D_ENST00000546160.1_Missense_Mutation_p.E270Q|PDE4D_ENST00000405755.2_Missense_Mutation_p.E209Q	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	331					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GATATAAACTCTGACACTTGA	0.343																																						ENST00000340635.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15						c.(991-993)Gag>Cag		phosphodiesterase 4D, cAMP-specific	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)						79.0	77.0	78.0					5																	58289223		1818	4083	5901	SO:0001583	missense	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:58289223C>G		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.991G>C	5.37:g.58289223C>G	ENSP00000345502:p.Glu331Gln					PDE4D_ENST00000405755.2_Missense_Mutation_p.E209Q|PDE4D_ENST00000360047.5_Missense_Mutation_p.E195Q|PDE4D_ENST00000358923.6_Missense_Mutation_p.E29Q|PDE4D_ENST00000507116.1_Missense_Mutation_p.E267Q|PDE4D_ENST00000502484.2_Missense_Mutation_p.E270Q|PDE4D_ENST00000546160.1_Missense_Mutation_p.E270Q|PDE4D_ENST00000503258.1_Missense_Mutation_p.E201Q|PDE4D_ENST00000317118.8_Missense_Mutation_p.E40Q	p.E331Q	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	7	1166	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	331					O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	ENST00000340635.6	37	c.991G>C	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.996248	0.93167	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000358923;ENST00000317118;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160;ENST00000505453	T;T;T;T;T;T;T;T;T;T	0.70399	-0.47;-0.45;-0.47;-0.3;-0.37;-0.45;-0.46;-0.48;-0.48;-0.4	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.86285	0.5896	M	0.86573	2.825	0.80722	D	1	D;D;D;B;B;D;P;B	0.61080	0.989;0.981;0.989;0.245;0.245;0.989;0.756;0.434	D;D;D;B;B;D;P;B	0.72982	0.979;0.954;0.979;0.359;0.359;0.979;0.461;0.328	D	0.87789	0.2617	10	0.56958	D	0.05	.	18.6271	0.91344	0.0:1.0:0.0:0.0	.	270;331;267;194;209;201;106;40	Q08499-11;Q08499;Q08499-6;Q08499-2;Q08499-9;Q08499-10;Q08499-4;Q08499-8	.;PDE4D_HUMAN;.;.;.;.;.;.	Q	331;200;195;267;29;40;201;209;270;270;29	ENSP00000345502:E331Q;ENSP00000353152:E195Q;ENSP00000424852:E267Q;ENSP00000351800:E29Q;ENSP00000321739:E40Q;ENSP00000425605:E201Q;ENSP00000384806:E209Q;ENSP00000423094:E270Q;ENSP00000442734:E270Q;ENSP00000421013:E29Q	ENSP00000321739:E40Q	E	-	1	0	PDE4D	58324980	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.526000	0.81920	2.644000	0.89710	0.557000	0.71058	GAG		0.343	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3			12	41	0	0	0	0.105934	0	12	41				
RACGAP1	29127	broad.mit.edu	37	12	50392997	50392997	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr12:50392997C>G	ENST00000427314.2	-	11	1029	c.806G>C	c.(805-807)aGa>aCa	p.R269T	RACGAP1_ENST00000454520.2_Missense_Mutation_p.R269T|RACGAP1_ENST00000547905.1_Missense_Mutation_p.R269T|RACGAP1_ENST00000551016.1_Missense_Mutation_p.R269T|RACGAP1_ENST00000547061.1_5'UTR|RACGAP1_ENST00000312377.5_Missense_Mutation_p.R269T|RACGAP1_ENST00000434422.1_Missense_Mutation_p.R269T	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1											cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						TGTCTCAGTTCTTGGCTCCAG	0.443																																						ENST00000434422.1																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						c.(805-807)aGa>aCa		Rac GTPase activating protein 1							112.0	95.0	101.0					12																	50392997		2203	4300	6503	SO:0001583	missense	29127				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding	g.chr12:50392997C>G		CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000427314.2:c.806G>C	12.37:g.50392997C>G	ENSP00000404190:p.Arg269Thr					RACGAP1_ENST00000454520.2_Missense_Mutation_p.R269T|RACGAP1_ENST00000312377.5_Missense_Mutation_p.R269T|RACGAP1_ENST00000427314.2_Missense_Mutation_p.R269T|RACGAP1_ENST00000551016.1_Missense_Mutation_p.R269T|RACGAP1_ENST00000547905.1_Missense_Mutation_p.R269T|RACGAP1_ENST00000547061.1_5'UTR	p.R269T			Q9H0H5	RGAP1_HUMAN			10	1107	-			269			Interaction with SLC26A8.			Missense_Mutation	SNP	ENST00000427314.2	37	c.806G>C	CCDS8795.1	.	.	.	.	.	.	.	.	.	.	C	8.267	0.812512	0.16537	.	.	ENSG00000161800	ENST00000427314;ENST00000312377;ENST00000434422;ENST00000454520;ENST00000551016;ENST00000547905;ENST00000549342;ENST00000552310	T;T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79;2.92	5.61	0.191	0.15130	.	0.497982	0.25156	N	0.032709	T	0.18509	0.0444	L	0.57536	1.79	0.24037	N	0.996095	B	0.18610	0.029	B	0.18263	0.021	T	0.30650	-0.9971	10	0.12766	T	0.61	-5.6189	5.5912	0.17301	0.13:0.3707:0.0:0.4993	.	269	Q9H0H5	RGAP1_HUMAN	T	269;269;269;269;269;269;60;269	ENSP00000404190:R269T;ENSP00000309871:R269T;ENSP00000413241:R269T;ENSP00000404808:R269T;ENSP00000449374:R269T;ENSP00000449370:R269T;ENSP00000449565:R60T	ENSP00000309871:R269T	R	-	2	0	RACGAP1	48679264	0.710000	0.27896	0.836000	0.33094	0.754000	0.42855	0.089000	0.15002	0.022000	0.15160	0.561000	0.74099	AGA		0.443	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405997.1	NM_013277		10	36	0	0	0	0.093190	0	10	36				
KALRN	8997	broad.mit.edu	37	3	124380748	124380748	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:124380748G>A	ENST00000291478.5	+	12	1387	c.1224G>A	c.(1222-1224)atG>atA	p.M408I	KALRN_ENST00000360013.3_Missense_Mutation_p.M2105I|KALRN_ENST00000393496.1_Missense_Mutation_p.M446I|KALRN_ENST00000428018.2_Missense_Mutation_p.M376I|KALRN_ENST00000459915.1_Missense_Mutation_p.M197I	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2104					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.M2105I(1)|p.M408I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ATGACATGATGAATCTAGGAC	0.507																																						ENST00000360013.3																			2	Substitution - Missense(2)	p.M2105I(1)|p.M408I(1)	urinary_tract(2)	NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(6313-6315)atG>atA		kalirin, RhoGEF kinase							204.0	172.0	183.0					3																	124380748		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124380748G>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.1224G>A	3.37:g.124380748G>A	ENSP00000291478:p.Met408Ile					KALRN_ENST00000393496.1_Missense_Mutation_p.M446I|KALRN_ENST00000428018.2_Missense_Mutation_p.M376I|KALRN_ENST00000291478.4_Missense_Mutation_p.M408I|KALRN_ENST00000459915.1_Missense_Mutation_p.M197I	p.M2105I	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			45	6442	+			2104					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000291478.5	37	c.6315G>A	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	G	33	5.212737	0.95069	.	.	ENSG00000160145	ENST00000360013;ENST00000393496;ENST00000291478;ENST00000428018;ENST00000459915	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.29	5.29	0.74685	Dbl homology (DH) domain (2);	0.000000	0.85682	D	0.000000	T	0.72317	0.3445	M	0.90483	3.12	0.80722	D	1	P;P;D;P	0.67145	0.943;0.938;0.996;0.841	P;D;D;P	0.78314	0.893;0.949;0.991;0.857	T	0.78193	-0.2299	10	0.87932	D	0	.	19.12	0.93358	0.0:0.0:1.0:0.0	.	197;408;446;2104	E7EUZ8;C9JQ37;O60229-5;O60229	.;.;.;KALRN_HUMAN	I	2105;446;408;376;197	ENSP00000353109:M2105I;ENSP00000377134:M446I;ENSP00000291478:M408I;ENSP00000402419:M376I;ENSP00000420318:M197I	ENSP00000291478:M408I	M	+	3	0	KALRN	125863438	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	2.752000	0.94435	0.655000	0.94253	ATG		0.507	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		28	89	0	0	0	0.108266	0	28	89				
PTPN14	5784	broad.mit.edu	37	1	214556663	214556663	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:214556663C>T	ENST00000366956.5	-	13	2729	c.2535G>A	c.(2533-2535)atG>atA	p.M845I	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	845					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CCCTGATCATCATCTCTCTCT	0.512																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(2533-2535)atG>atA		protein tyrosine phosphatase, non-receptor type 14							93.0	84.0	87.0					1																	214556663		2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214556663C>T	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2535G>A	1.37:g.214556663C>T	ENSP00000355923:p.Met845Ile					PTPN14_ENST00000543945.1_3'UTR	p.M845I	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	2729	-			845					Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.2535G>A	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	C	9.905	1.207991	0.22205	.	.	ENSG00000152104	ENST00000366956	T	0.64991	-0.13	5.2	5.2	0.72013	.	0.046775	0.85682	D	0.000000	T	0.38772	0.1053	N	0.11201	0.11	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28267	-1.0049	10	0.20046	T	0.44	.	9.048	0.36358	0.0:0.7584:0.1611:0.0805	.	845	Q15678	PTN14_HUMAN	I	845	ENSP00000355923:M845I	ENSP00000355923:M845I	M	-	3	0	PTPN14	212623286	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.459000	0.45023	2.421000	0.82119	0.563000	0.77884	ATG		0.512	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		18	61	0	0	0	0.043863	0	18	61				
BTAF1	9044	broad.mit.edu	37	10	93719794	93719794	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr10:93719794G>C	ENST00000265990.6	+	11	1454	c.1146G>C	c.(1144-1146)atG>atC	p.M382I	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	382					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TAAAACACATGAACGAAACAG	0.383																																						ENST00000265990.6																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.(1144-1146)atG>atC		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							139.0	135.0	136.0					10																	93719794		2203	4300	6503	SO:0001583	missense	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93719794G>C	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.1146G>C	10.37:g.93719794G>C	ENSP00000265990:p.Met382Ile					BTAF1_ENST00000471217.1_3'UTR	p.M382I	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN			11	1454	+		Colorectal(252;0.0846)	382					B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	c.1146G>C	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.780785	0.49891	.	.	ENSG00000095564	ENST00000265990	T	0.63096	-0.02	5.37	5.37	0.77165	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.57330	0.2046	L	0.47016	1.485	0.80722	D	1	P	0.45212	0.853	B	0.39027	0.288	T	0.58120	-0.7692	10	0.33141	T	0.24	-4.0231	19.0981	0.93263	0.0:0.0:1.0:0.0	.	382	O14981	BTAF1_HUMAN	I	382	ENSP00000265990:M382I	ENSP00000265990:M382I	M	+	3	0	BTAF1	93709774	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.835000	0.99442	2.520000	0.84964	0.585000	0.79938	ATG		0.383	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		29	87	0	0	0	0.125774	0	29	87				
RP11-146E13.4	0	broad.mit.edu	37	14	19857019	19857019	+	lincRNA	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr14:19857019C>T	ENST00000548109.1	+	0	72																											ATTATACTCTCAGCATCCTGG	0.383																																						ENST00000548109.1																			0																																																			0							g.chr14:19857019C>T																													14.37:g.19857019C>T														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.383	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			5	144	0	0	0	0.029380	0	5	144				
ZNF496	84838	broad.mit.edu	37	1	247492661	247492661	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:247492661C>T	ENST00000294753.4	-	3	684	c.220G>A	c.(220-222)Gag>Aag	p.E74K	ZNF496_ENST00000366498.2_Missense_Mutation_p.E74K	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	74	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GTGTGCCTCTCAGGCCGCAGC	0.711																																						ENST00000294753.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(220-222)Gag>Aag		zinc finger protein 496							21.0	26.0	24.0					1																	247492661		2203	4299	6502	SO:0001583	missense	84838				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:247492661C>T	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.220G>A	1.37:g.247492661C>T	ENSP00000294753:p.Glu74Lys					ZNF496_ENST00000366498.2_Missense_Mutation_p.E74K	p.E74K	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		3	684	-	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		74			SCAN box.		Q8TBS2	Missense_Mutation	SNP	ENST00000294753.4	37	c.220G>A	CCDS1631.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829497	0.71258	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.07216	3.21;3.21	4.27	3.32	0.38043	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.608349	0.14551	N	0.312657	T	0.31638	0.0803	M	0.88512	2.96	0.18873	N	0.999984	D;D	0.76494	0.996;0.999	D;D	0.76071	0.987;0.978	T	0.07177	-1.0786	9	.	.	.	-19.4239	9.3031	0.37858	0.2144:0.7856:0.0:0.0	.	74;74	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	K	74	ENSP00000294753:E74K;ENSP00000355454:E74K	.	E	-	1	0	ZNF496	245559284	0.896000	0.30565	0.029000	0.17559	0.978000	0.69477	2.835000	0.48175	1.089000	0.41292	0.561000	0.74099	GAG		0.711	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752		8	29	0	0	0	0.038147	0	8	29				
ADAMDEC1	27299	broad.mit.edu	37	8	24256527	24256527	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr8:24256527G>T	ENST00000256412.4	+	9	1123	c.903G>T	c.(901-903)aaG>aaT	p.K301N	RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.K222N|ADAMDEC1_ENST00000538205.1_Missense_Mutation_p.K222N|RP11-624C23.1_ENST00000523578.1_RNA	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	301	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TGGGGAAAAAGATCCACGACC	0.512																																					Ovarian(147;687 1849 3699 25981 31337)	ENST00000538205.1																			0				NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9						c.(664-666)aaG>aaT		ADAM-like, decysin 1							93.0	83.0	86.0					8																	24256527		2203	4300	6503	SO:0001583	missense	27299				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:24256527G>T	Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.903G>T	8.37:g.24256527G>T	ENSP00000256412:p.Lys301Asn					RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.K301N|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.K222N	p.K222N	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)	10	1213	+		Prostate(55;0.0181)	301			Peptidase M12B.		B7ZAK5	Missense_Mutation	SNP	ENST00000256412.4	37	c.666G>T	CCDS6044.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.579252	0.46006	.	.	ENSG00000134028	ENST00000256412;ENST00000538205;ENST00000522298	T;T;T	0.65549	-0.16;-0.16;-0.16	5.88	3.09	0.35607	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.263595	0.33023	N	0.005363	T	0.74137	0.3677	M	0.83384	2.64	0.09310	N	1	P	0.51933	0.949	P	0.60286	0.872	T	0.64765	-0.6330	10	0.87932	D	0	-7.9251	7.7433	0.28853	0.2421:0.0:0.7579:0.0	.	301	O15204	ADEC1_HUMAN	N	301;222;222	ENSP00000256412:K301N;ENSP00000442592:K222N;ENSP00000428993:K222N	ENSP00000256412:K301N	K	+	3	2	ADAMDEC1	24312472	0.125000	0.22332	0.032000	0.17829	0.544000	0.35116	0.431000	0.21444	1.476000	0.48215	0.655000	0.94253	AAG		0.512	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215149.2	NM_014479		7	25	1	0	3.09899e-07	0.047766	3.24031e-07	7	25				
POLQ	10721	broad.mit.edu	37	3	121207251	121207251	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:121207251C>T	ENST00000264233.5	-	16	4655	c.4527G>A	c.(4525-4527)atG>atA	p.M1509I		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1509					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GGGGTTCTTTCATTTGCATAT	0.318								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(4525-4527)atG>atA	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							64.0	67.0	66.0					3																	121207251		2203	4298	6501	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121207251C>T	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.4527G>A	3.37:g.121207251C>T	ENSP00000264233:p.Met1509Ile						p.M1509I	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	4655	-			1509					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.4527G>A	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	C	4.070	0.010896	0.07912	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.46063	0.88	5.78	-8.2	0.01045	.	4.161460	0.00604	N	0.000397	T	0.26919	0.0659	N	0.14661	0.345	0.09310	N	1	B;B	0.13594	0.0;0.008	B;B	0.10450	0.001;0.005	T	0.15636	-1.0430	10	0.37606	T	0.19	.	13.8951	0.63766	0.0:0.7057:0.19:0.1043	.	1509;681	O75417;O75417-2	DPOLQ_HUMAN;.	I	1132;1509;1645	ENSP00000264233:M1509I	ENSP00000264233:M1509I	M	-	3	0	POLQ	122689941	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.472000	0.02341	-2.102000	0.00845	-0.345000	0.07892	ATG		0.318	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		18	58	0	0	0	0.043863	0	18	58				
SLC4A1AP	22950	broad.mit.edu	37	2	27907945	27907945	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:27907945G>A	ENST00000326019.6	+	10	2199	c.1917G>A	c.(1915-1917)atG>atA	p.M639I		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	639						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					CAACTCTAATGAGAATGAAAG	0.413																																						ENST00000326019.6																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23						c.(1915-1917)atG>atA		solute carrier family 4 (anion exchanger), member 1, adaptor protein							69.0	68.0	68.0					2																	27907945		2203	4300	6503	SO:0001583	missense	22950					cytoplasm|nucleus	double-stranded RNA binding|protein binding	g.chr2:27907945G>A		CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"""lung cancer oncogene 3"""	602655	"""solute carrier family 4 (anion exchanger), member 1, adapter protein"""			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.1917G>A	2.37:g.27907945G>A	ENSP00000323837:p.Met639Ile						p.M639I	NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN			10	2199	+	Acute lymphoblastic leukemia(172;0.155)		639					A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Missense_Mutation	SNP	ENST00000326019.6	37	c.1917G>A	CCDS33166.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822874	0.32237	.	.	ENSG00000163798	ENST00000326019	T	0.28666	1.6	5.38	4.49	0.54785	.	0.217025	0.47852	D	0.000206	T	0.20941	0.0504	L	0.44542	1.39	0.29707	N	0.839739	B	0.15141	0.012	B	0.08055	0.003	T	0.06320	-1.0833	10	0.21540	T	0.41	-9.3178	5.1058	0.14783	0.1502:0.0:0.6479:0.202	.	639	Q9BWU0	NADAP_HUMAN	I	639	ENSP00000323837:M639I	ENSP00000323837:M639I	M	+	3	0	SLC4A1AP	27761449	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.477000	0.35431	2.669000	0.90835	0.563000	0.77884	ATG		0.413	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324550.1	NM_018158		18	46	0	0	0	0.175082	0	18	46				
STARD13	90627	broad.mit.edu	37	13	33701584	33701584	+	Silent	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr13:33701584G>A	ENST00000336934.5	-	6	1964	c.1848C>T	c.(1846-1848)ctC>ctT	p.L616L	STARD13_ENST00000399365.3_Silent_p.L498L|STARD13_ENST00000255486.4_Silent_p.L608L	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	616					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		AGAAGCGCTGGAGCAGGCTCA	0.642																																						ENST00000336934.5																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40						c.(1846-1848)ctC>ctT		StAR-related lipid transfer (START) domain containing 13							41.0	34.0	37.0					13																	33701584		2203	4300	6503	SO:0001819	synonymous_variant	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33701584G>A	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.1848C>T	13.37:g.33701584G>A						STARD13_ENST00000399365.3_Silent_p.L498L|STARD13_ENST00000255486.4_Silent_p.L608L	p.L616L	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	6	1964	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	616					A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Silent	SNP	ENST00000336934.5	37	c.1848C>T	CCDS9348.1																																																																																				0.642	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		5	15	0	0	0	0.014758	0	5	15				
XIRP1	165904	broad.mit.edu	37	3	39228921	39228921	+	Silent	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:39228921G>A	ENST00000340369.3	-	2	2244	c.2016C>T	c.(2014-2016)ggC>ggT	p.G672G	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.G672G	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	672					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CACAGGGACGGCCTGAGGCCT	0.612																																						ENST00000340369.3																			0				breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(2014-2016)ggC>ggT		xin actin-binding repeat containing 1							37.0	41.0	40.0					3																	39228921		2203	4300	6503	SO:0001819	synonymous_variant	165904						actin binding	g.chr3:39228921G>A	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.2016C>T	3.37:g.39228921G>A						XIRP1_ENST00000396251.1_Silent_p.G672G|XIRP1_ENST00000421646.1_Intron	p.G672G	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	2244	-			672					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	ENST00000340369.3	37	c.2016C>T	CCDS2683.1																																																																																				0.612	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		12	54	0	0	0	0.093190	0	12	54				
CDH19	28513	broad.mit.edu	37	18	64176484	64176484	+	Splice_Site	SNP	C	C	G	rs200384608		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr18:64176484C>G	ENST00000262150.2	-	11	1869		c.e11-1		CDH19_ENST00000540086.1_Intron	NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2						branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GCTGTGTTATCTAAAACAAAA	0.343																																						ENST00000262150.2																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61						c.e11-1		cadherin 19, type 2							57.0	58.0	57.0					18																	64176484		2202	4299	6501	SO:0001630	splice_region_variant	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64176484C>G	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000262150.2:c.1577-1G>C	18.37:g.64176484C>G						CDH19_ENST00000540086.1_Intron		NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN			11	1869	-		Esophageal squamous(42;0.0132)						O15098	Splice_Site	SNP	ENST00000262150.2	37		CCDS11994.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954519	0.73902	.	.	ENSG00000071991	ENST00000262150	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7863	0.91955	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDH19	62327464	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	7.391000	0.79828	2.513000	0.84729	0.585000	0.79938	.		0.343	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256219.1	NM_021153	Intron	9	17	0	0	0	0.058154	0	9	17				
FUT2	2524	broad.mit.edu	37	19	49206875	49206875	+	Missense_Mutation	SNP	G	G	A	rs201026795		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:49206875G>A	ENST00000425340.2	+	2	779	c.662G>A	c.(661-663)cGa>cAa	p.R221Q	FUT2_ENST00000391876.4_Missense_Mutation_p.R221Q	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	221					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		GCCGACCGGCGATACCTACAG	0.607																																						ENST00000425340.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7						c.(661-663)cGa>cAa		fucosyltransferase 2 (secretor status included)							76.0	77.0	77.0					19																	49206875		2203	4300	6503	SO:0001583	missense	2524				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity	g.chr19:49206875G>A		CCDS33069.1	19q13.33	2014-07-19			ENSG00000176920	ENSG00000176920		"""Fucosyltransferases"""	4013	protein-coding gene	gene with protein product	"""alpha (1,2) fucosyltransferase"", ""galactoside 2-alpha-L-fucosyltransferase 2"", ""GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2"", ""alpha(1,2)FT2"", ""secretor factor"", ""secretor blood group alpha-2-fucosyltransferase"""	182100		SE		1763885	Standard	NM_000511		Approved	sej, Se2, SEC2	uc010emc.3	Q10981	OTTHUMG00000164427	ENST00000425340.2:c.662G>A	19.37:g.49206875G>A	ENSP00000387498:p.Arg221Gln					FUT2_ENST00000391876.4_Missense_Mutation_p.R221Q	p.R221Q	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)	2	779	+		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	221					Q0VAG5|Q14338|Q5D0G2	Missense_Mutation	SNP	ENST00000425340.2	37	c.662G>A	CCDS33069.1	.	.	.	.	.	.	.	.	.	.	G	8.599	0.886370	0.17540	.	.	ENSG00000176920	ENST00000425340;ENST00000391876	D;D	0.96365	-3.99;-3.99	5.16	-4.0	0.04057	.	.	.	.	.	D	0.89508	0.6735	N	0.22421	0.69	0.09310	N	1	B	0.18310	0.027	B	0.12156	0.007	T	0.78486	-0.2185	8	.	.	.	.	6.9951	0.24779	0.5367:0.1258:0.3375:0.0	.	221	Q10981	FUT2_HUMAN	Q	221	ENSP00000387498:R221Q;ENSP00000375748:R221Q	.	R	+	2	0	FUT2	53898687	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.862000	0.01653	-0.824000	0.04295	-1.079000	0.02226	CGA		0.607	FUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378731.2	NM_000511		23	95	0	0	0	0.076483	0	23	95				
ANKRD20A4	728747	broad.mit.edu	37	9	69420272	69420272	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr9:69420272G>A	ENST00000357336.3	+	13	1443	c.1162G>A	c.(1162-1164)Gga>Aga	p.G388R		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	388										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						GGTCAAAGAAGGAAATAATAC	0.259																																						ENST00000357336.3																			0				breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						c.(1162-1164)Gga>Aga		ankyrin repeat domain 20 family, member A4							12.0	20.0	17.0					9																	69420272		1168	2163	3331	SO:0001583	missense	728747							g.chr9:69420272G>A		CCDS43828.1	9q21.11	2013-01-10			ENSG00000172014	ENSG00000172014		"""Ankyrin repeat domain containing"""	31982	protein-coding gene	gene with protein product							Standard	NM_001098805		Approved	OTTHUMG00000066855	uc004afn.3	Q4UJ75	OTTHUMG00000066855	ENST00000357336.3:c.1162G>A	9.37:g.69420272G>A	ENSP00000349891:p.Gly388Arg						p.G388R	NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN			13	1443	+			388						Missense_Mutation	SNP	ENST00000357336.3	37	c.1162G>A	CCDS43828.1	.	.	.	.	.	.	.	.	.	.	G	9.367	1.069426	0.20147	.	.	ENSG00000172014	ENST00000357336	T	0.34667	1.35	1.95	-1.37	0.09056	.	.	.	.	.	T	0.14141	0.0342	N	0.08118	0	0.09310	N	1	B	0.25007	0.116	B	0.17098	0.017	T	0.27872	-1.0061	9	0.18276	T	0.48	.	4.9837	0.14180	0.6046:0.0:0.3954:0.0	.	388	Q4UJ75	A20A4_HUMAN	R	388	ENSP00000349891:G388R	ENSP00000349891:G388R	G	+	1	0	ANKRD20A4	68710092	1.000000	0.71417	0.012000	0.15200	0.107000	0.19398	0.649000	0.24843	-0.216000	0.10048	0.184000	0.17185	GGA		0.259	ANKRD20A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143287.3	NM_001098805		3	45	0	0	0	0.038147	0	3	45				
ABL2	27	broad.mit.edu	37	1	179084052	179084052	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:179084052C>T	ENST00000502732.1	-	9	1725	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K	ABL2_ENST00000512653.1_Missense_Mutation_p.E493K|ABL2_ENST00000344730.3_Missense_Mutation_p.E493K|ABL2_ENST00000511413.1_Missense_Mutation_p.E508K|ABL2_ENST00000392043.3_Missense_Mutation_p.E487K|ABL2_ENST00000367623.4_Missense_Mutation_p.E487K|ABL2_ENST00000408940.3_Missense_Mutation_p.E472K|ABL2_ENST00000507173.1_Missense_Mutation_p.E487K|ABL2_ENST00000504405.1_Missense_Mutation_p.E472K	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	508	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GGGCATCCCTCAGGCTGTTCC	0.403			T	ETV6	AML																																	ENST00000502732.1				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		0				breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65						c.(1522-1524)Gag>Aag		c-abl oncogene 2, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						116.0	119.0	118.0					1																	179084052		2203	4300	6503	SO:0001583	missense	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179084052C>T	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.1522G>A	1.37:g.179084052C>T	ENSP00000427562:p.Glu508Lys					ABL2_ENST00000408940.3_Missense_Mutation_p.E472K|ABL2_ENST00000367623.4_Missense_Mutation_p.E487K|ABL2_ENST00000344730.3_Missense_Mutation_p.E493K|ABL2_ENST00000507173.1_Missense_Mutation_p.E487K|ABL2_ENST00000392043.3_Missense_Mutation_p.E487K|ABL2_ENST00000504405.1_Missense_Mutation_p.E472K|ABL2_ENST00000512653.1_Missense_Mutation_p.E493K|ABL2_ENST00000511413.1_Missense_Mutation_p.E508K	p.E508K	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN			9	1725	-			508			Protein kinase.		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	ENST00000502732.1	37	c.1522G>A	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	C	34	5.347760	0.95807	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413;ENST00000392043	D;D;D;D;D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	5.99	5.99	0.97316	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	D	0.000061	D	0.85784	0.5777	N	0.19112	0.55	0.80722	D	1	D;B;B;B;B;P;D;P;B	0.69078	0.997;0.196;0.196;0.196;0.014;0.614;0.997;0.614;0.196	D;B;B;B;B;B;D;B;B	0.74674	0.984;0.075;0.075;0.172;0.024;0.348;0.984;0.348;0.172	D	0.86563	0.1842	10	0.54805	T	0.06	.	19.4456	0.94845	0.0:1.0:0.0:0.0	.	487;487;508;472;487;508;493;472;493	P42684-6;P42684-7;P42684-5;P42684-4;P42684-8;P42684;P42684-3;D1MPS6;P42684-10	.;.;.;.;.;ABL2_HUMAN;.;.;.	K	508;472;493;493;472;487;487;508;487	ENSP00000427562:E508K;ENSP00000386152:E472K;ENSP00000339209:E493K;ENSP00000423578:E493K;ENSP00000426831:E472K;ENSP00000356595:E487K;ENSP00000423413:E487K;ENSP00000424697:E508K;ENSP00000375897:E487K	ENSP00000339209:E493K	E	-	1	0	ABL2	177350675	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.760000	0.85248	2.843000	0.97960	0.591000	0.81541	GAG		0.403	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		22	72	0	0	0	0.055883	0	22	72				
CDKN2AIP	55602	broad.mit.edu	37	4	184367411	184367411	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr4:184367411C>T	ENST00000504169.1	+	3	781	c.574C>T	c.(574-576)Cgg>Tgg	p.R192W	CDKN2AIP_ENST00000506835.1_3'UTR|CDKN2AIP_ENST00000302350.4_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	192	Ser-rich.				negative regulation of cell growth (GO:0030308)|positive regulation of signal transduction (GO:0009967)|regulation of protein stability (GO:0031647)	cytoplasm (GO:0005737)|granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	p53 binding (GO:0002039)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GAACTCAGCTCGGAGCTCTGG	0.512																																						ENST00000504169.1																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6						c.(574-576)Cgg>Tgg		CDKN2A interacting protein							91.0	90.0	90.0					4																	184367411		2203	4300	6503	SO:0001583	missense	55602				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding	g.chr4:184367411C>T	AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564			24325	protein-coding gene	gene with protein product	"""collaborates/cooperates with ARF (alternate reading frame) protein"""	615914				12154087, 16803988	Standard	NM_017632		Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.574C>T	4.37:g.184367411C>T	ENSP00000427108:p.Arg192Trp					CDKN2AIP_ENST00000506835.1_3'UTR|CDKN2AIP_ENST00000302350.4_3'UTR	p.R192W	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	3	781	+		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	192			Ser-rich.		Q8TBM5|Q9NYH0	Missense_Mutation	SNP	ENST00000504169.1	37	c.574C>T	CCDS34110.1	.	.	.	.	.	.	.	.	.	.	C	1.614	-0.523358	0.04141	.	.	ENSG00000168564	ENST00000504169	.	.	.	5.55	1.97	0.26223	.	1.079580	0.07137	N	0.846605	T	0.28101	0.0693	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.27365	-1.0076	9	0.56958	D	0.05	3.1821	5.6624	0.17676	0.138:0.6371:0.0:0.225	.	192	Q9NXV6	CARF_HUMAN	W	192	.	ENSP00000427108:R192W	R	+	1	2	CDKN2AIP	184604405	0.232000	0.23762	0.003000	0.11579	0.019000	0.09904	0.154000	0.16343	0.164000	0.19529	-0.122000	0.15005	CGG		0.512	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361488.1	NM_017632		6	44	0	0	0	0.029380	0	6	44				
MOS	4342	broad.mit.edu	37	8	57025568	57025568	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr8:57025568G>A	ENST00000311923.1	-	1	973	c.974C>T	c.(973-975)gCg>gTg	p.A325V		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	325	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|chromatin organization (GO:0006325)|establishment of meiotic spindle orientation (GO:0051296)|MAPK cascade (GO:0000165)|meiotic spindle organization (GO:0000212)|negative regulation of metaphase/anaphase transition of meiotic cell cycle (GO:1902103)|protein autophosphorylation (GO:0046777)|regulation of meiosis (GO:0040020)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)	p.A325V(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			CCTCTGCGCCGCGCTGGGTCT	0.627																																					Esophageal Squamous(124;373 2870 4778)	ENST00000311923.1																			1	Substitution - Missense(1)	p.A325V(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22						c.(973-975)gCg>gTg		v-mos Moloney murine sarcoma viral oncogene homolog							21.0	24.0	23.0					8																	57025568		2201	4297	6498	SO:0001583	missense	4342						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr8:57025568G>A		CCDS6164.1	8q11	2012-10-02			ENSG00000172680	ENSG00000172680			7199	protein-coding gene	gene with protein product		190060				9552420	Standard	NM_005372		Approved		uc011leb.2	P00540	OTTHUMG00000164299	ENST00000311923.1:c.974C>T	8.37:g.57025568G>A	ENSP00000310722:p.Ala325Val						p.A325V	NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	Epithelial(17;0.00117)|all cancers(17;0.00879)		1	973	-			325			Protein kinase.		Q3KPG9|Q3KPH0	Missense_Mutation	SNP	ENST00000311923.1	37	c.974C>T	CCDS6164.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.794988	0.50208	.	.	ENSG00000172680	ENST00000311923	D	0.93366	-3.21	5.8	4.93	0.64822	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.594961	0.15450	N	0.261722	D	0.87103	0.6094	N	0.25485	0.75	0.09310	N	1	B	0.29115	0.233	B	0.20384	0.029	T	0.76809	-0.2822	10	0.30854	T	0.27	.	11.273	0.49150	0.19:0.0:0.81:0.0	.	325	P00540	MOS_HUMAN	V	325	ENSP00000310722:A325V	ENSP00000310722:A325V	A	-	2	0	MOS	57188122	0.003000	0.15002	0.003000	0.11579	0.202000	0.24057	1.356000	0.34079	1.470000	0.48102	0.561000	0.74099	GCG		0.627	MOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378174.1	NM_005372		8	32	0	0	0	0.058154	0	8	32				
ARSI	340075	broad.mit.edu	37	5	149677914	149677914	+	Silent	SNP	G	G	A	rs150264448	byFrequency	TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:149677914G>A	ENST00000328668.7	-	2	1152	c.573C>T	c.(571-573)ttC>ttT	p.F191F		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	191					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGTGCAGGTCGAAGCCGCACA	0.627																																						ENST00000328668.7																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23						c.(571-573)ttC>ttT		arylsulfatase family, member I		G		7,4399	12.9+/-30.5	0,7,2196	55.0	53.0	53.0		573	-6.6	0.9	5	dbSNP_134	53	0,8600		0,0,4300	no	coding-synonymous	ARSI	NM_001012301.2		0,7,6496	AA,AG,GG		0.0,0.1589,0.0538		191/570	149677914	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	340075					endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding	g.chr5:149677914G>A	AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"""Arylsulfatase family"""	32521	protein-coding gene	gene with protein product		610009	"""arylsulfatase I"""			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.573C>T	5.37:g.149677914G>A							p.F191F	NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	1152	-			191					A1L3B0|B3KV22|B7XD03	Silent	SNP	ENST00000328668.7	37	c.573C>T	CCDS34275.1																																																																																				0.627	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	NM_001012301		5	23	0	0	0	0.014758	0	5	23				
ZNF580	51157	broad.mit.edu	37	19	56154207	56154207	+	Silent	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:56154207C>T	ENST00000543039.1	+	1	790	c.333C>T	c.(331-333)cgC>cgT	p.R111R	ZNF580_ENST00000545125.1_Silent_p.R111R|ZNF581_ENST00000588537.1_5'Flank|ZNF580_ENST00000325333.5_Silent_p.R111R|ZNF581_ENST00000587252.1_Intron|ZNF581_ENST00000270451.5_5'Flank	NM_016202.2	NP_057286.1	Q9UK33	ZN580_HUMAN	zinc finger protein 580	111					cellular response to hydrogen peroxide (GO:0070301)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte chemotaxis (GO:0002690)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			lung(1)|upper_aerodigestive_tract(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		AGAGCCACCGCGTGTCGCACT	0.731																																						ENST00000543039.1																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(331-333)cgC>cgT		zinc finger protein 580							6.0	6.0	6.0					19																	56154207		2055	4050	6105	SO:0001819	synonymous_variant	51157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56154207C>T	AF184939	CCDS12931.1	19q13.42	2013-09-20			ENSG00000213015	ENSG00000213015		"""Zinc fingers, C2H2-type"""	29473	protein-coding gene	gene with protein product						12477932	Standard	NM_001163423		Approved		uc002qlo.3	Q9UK33	OTTHUMG00000180868	ENST00000543039.1:c.333C>T	19.37:g.56154207C>T						ZNF581_ENST00000587252.1_Intron|ZNF580_ENST00000545125.1_Silent_p.R111R|ZNF580_ENST00000325333.5_Silent_p.R111R	p.R111R	NM_016202.2	NP_057286.1	Q9UK33	ZN580_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	1	790	+			111					B2RC05|Q9NPP7	Silent	SNP	ENST00000543039.1	37	c.333C>T	CCDS12931.1																																																																																				0.731	ZNF580-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453428.1	NM_016202		3	17	0	0	0	0.115264	0	3	17				
CFTR	1080	broad.mit.edu	37	7	117227829	117227829	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:117227829C>A	ENST00000003084.6	+	12	1753	c.1621C>A	c.(1621-1623)Ctt>Att	p.L541I	CFTR_ENST00000454343.1_Missense_Mutation_p.L480I	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	541	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	CAATATAGTTCTTGGAGAAGG	0.358									Cystic Fibrosis																													ENST00000003084.6																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69						c.(1621-1623)Ctt>Att		cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	Bumetanide(DB00887)|Glibenclamide(DB01016)						115.0	115.0	115.0					7																	117227829		2203	4300	6503	SO:0001583	missense	1080	Cystic Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117227829C>A	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.1621C>A	7.37:g.117227829C>A	ENSP00000003084:p.Leu541Ile					CFTR_ENST00000454343.1_Missense_Mutation_p.L480I	p.L541I	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		12	1753	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		541			ABC transporter 1.		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.1621C>A	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.555012	0.45487	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.90133	-2.62;-2.62;-2.62	5.06	5.06	0.68205	ABC transporter, transmembrane domain, type 1 (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.061358	0.64402	D	0.000003	T	0.81669	0.4871	N	0.02842	-0.48	0.40016	D	0.975348	B	0.27380	0.177	P	0.45881	0.496	T	0.75371	-0.3341	10	0.02654	T	1	-16.3822	9.5588	0.39355	0.0:0.8433:0.0:0.1567	.	541	P13569	CFTR_HUMAN	I	541;480;511	ENSP00000003084:L541I;ENSP00000403677:L480I;ENSP00000389119:L511I	ENSP00000003084:L541I	L	+	1	0	CFTR	117015065	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	1.941000	0.40233	2.512000	0.84698	0.655000	0.94253	CTT		0.358	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		18	29	1	0	5.35356e-11	0.076483	5.69037e-11	18	29				
SOX2	6657	broad.mit.edu	37	3	181430864	181430864	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:181430864C>A	ENST00000325404.1	+	1	1143	c.716C>A	c.(715-717)tCc>tAc	p.S239Y	SOX2_ENST00000431565.2_Missense_Mutation_p.S239Y	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	239					adenohypophysis development (GO:0021984)|cell cycle arrest (GO:0007050)|cerebral cortex development (GO:0021987)|chromatin organization (GO:0006325)|detection of mechanical stimulus involved in equilibrioception (GO:0050973)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|diencephalon morphogenesis (GO:0048852)|endodermal cell fate specification (GO:0001714)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|eye development (GO:0001654)|forebrain development (GO:0030900)|forebrain neuron differentiation (GO:0021879)|glial cell fate commitment (GO:0021781)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|male genitalia development (GO:0030539)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate commitment (GO:0048663)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|osteoblast differentiation (GO:0001649)|pigment biosynthetic process (GO:0046148)|pituitary gland development (GO:0021983)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to growth factor (GO:0070848)|response to retinoic acid (GO:0032526)|response to wounding (GO:0009611)|retina morphogenesis in camera-type eye (GO:0060042)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			GCTCTTGGCTCCATGGGTTCG	0.652			A		"""NSCLC, oesophageal squamous carcinoma"""		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME																															ENST00000325404.1				Dom	yes		3	3q26.3-q27	6657	A	SRY (sex determining region Y)-box 2	yes	MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME	E			"""NSCLC, oesophageal squamous carcinoma"""		0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10						c.(715-717)tCc>tAc		SRY (sex determining region Y)-box 2							73.0	60.0	64.0					3																	181430864		2203	4300	6503	SO:0001583	missense	6657				cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:181430864C>A	BC013923	CCDS3239.1	3q26.3-q27	2014-09-17						"""SRY (sex determining region Y)-boxes"""	11195	protein-coding gene	gene with protein product		184429				7849401	Standard	NM_003106		Approved		uc003fkx.3	P48431		ENST00000325404.1:c.716C>A	3.37:g.181430864C>A	ENSP00000323588:p.Ser239Tyr					SOX2_ENST00000431565.2_Missense_Mutation_p.S239Y	p.S239Y	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)		1	1143	+	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		239					Q14537	Missense_Mutation	SNP	ENST00000325404.1	37	c.716C>A	CCDS3239.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.844032	0.51164	.	.	ENSG00000181449	ENST00000431565;ENST00000325404	D;D	0.85088	-1.94;-1.94	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.85665	0.5749	L	0.58101	1.795	0.80722	D	1	P	0.44478	0.836	B	0.43386	0.418	D	0.87571	0.2478	10	0.87932	D	0	.	18.5469	0.91050	0.0:1.0:0.0:0.0	.	239	P48431	SOX2_HUMAN	Y	239	ENSP00000439111:S239Y;ENSP00000323588:S239Y	ENSP00000323588:S239Y	S	+	2	0	SOX2	182913558	1.000000	0.71417	1.000000	0.80357	0.427000	0.31564	5.983000	0.70540	2.688000	0.91661	0.591000	0.81541	TCC		0.652	SOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350419.1	NM_003106		18	61	1	0	9.16793e-09	0.160694	9.64887e-09	18	61				
ESPL1	9700	broad.mit.edu	37	12	53664560	53664560	+	Silent	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr12:53664560G>A	ENST00000257934.4	+	5	1438	c.1347G>A	c.(1345-1347)ctG>ctA	p.L449L	ESPL1_ENST00000552462.1_Silent_p.L449L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	449					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GCCAAGAGCTGACGGACCACA	0.547																																					Colon(53;1069 1201 2587 5382)	ENST00000257934.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(1345-1347)ctG>ctA		extra spindle pole bodies homolog 1 (S. cerevisiae)							123.0	104.0	110.0					12																	53664560		2203	4300	6503	SO:0001819	synonymous_variant	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53664560G>A	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.1347G>A	12.37:g.53664560G>A						ESPL1_ENST00000552462.1_Silent_p.L449L	p.L449L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN			5	1438	+			449						Silent	SNP	ENST00000257934.4	37	c.1347G>A	CCDS8852.1																																																																																				0.547	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		20	61	0	0	0	0.055883	0	20	61				
ZNF490	57474	broad.mit.edu	37	19	12721450	12721450	+	Silent	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:12721450G>A	ENST00000311437.6	-	1	167	c.45C>T	c.(43-45)ctC>ctT	p.L15L	ZNF791_ENST00000343325.4_5'Flank|ZNF791_ENST00000540038.1_5'Flank|ZNF791_ENST00000446165.1_5'Flank|ZNF791_ENST00000458122.3_5'Flank|ZNF490_ENST00000465656.1_Intron	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	15					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						CTTGCTCCTCGAGGGGTCGCT	0.567																																						ENST00000311437.6																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(43-45)ctC>ctT		zinc finger protein 490							155.0	121.0	133.0					19																	12721450		2203	4300	6503	SO:0001819	synonymous_variant	57474				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12721450G>A	AB033024	CCDS12272.1	19p13.2	2013-01-08			ENSG00000188033	ENSG00000188033		"""Zinc fingers, C2H2-type"", ""-"""	23705	protein-coding gene	gene with protein product							Standard	NM_020714		Approved	KIAA1198	uc002mtz.2	Q9ULM2	OTTHUMG00000156398	ENST00000311437.6:c.45C>T	19.37:g.12721450G>A						ZNF490_ENST00000465656.1_Intron	p.L15L	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN			1	167	-			15						Silent	SNP	ENST00000311437.6	37	c.45C>T	CCDS12272.1																																																																																				0.567	ZNF490-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344073.1	NM_020714		14	30	0	0	0	0.132662	0	14	30				
SCN2B	6327	broad.mit.edu	37	11	118037736	118037736	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:118037736C>A	ENST00000278947.5	-	4	755	c.514G>T	c.(514-516)Gtg>Ttg	p.V172L		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	172					cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|nervous system development (GO:0007399)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	voltage-gated sodium channel complex (GO:0001518)	sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)	Valproic Acid(DB00313)|Zonisamide(DB00909)	AAGATGACCACAGCCAGGAAG	0.597																																						ENST00000278947.5																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7						c.(514-516)Gtg>Ttg		sodium channel, voltage-gated, type II, beta subunit							128.0	111.0	117.0					11																	118037736		2200	4296	6496	SO:0001583	missense	6327				synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr11:118037736C>A	AY358945	CCDS8390.1	11q23.3	2013-09-19	2012-02-28		ENSG00000149575	ENSG00000149575		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	10589	protein-coding gene	gene with protein product		601327	"""sodium channel, voltage-gated, type II, beta polypeptide"", ""sodium channel, voltage-gated, type II, beta"""			10198179	Standard	NM_004588		Approved		uc001psf.2	O60939	OTTHUMG00000048248	ENST00000278947.5:c.514G>T	11.37:g.118037736C>A	ENSP00000278947:p.Val172Leu						p.V172L	NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)	4	755	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	172					O75302|Q9UNN3	Missense_Mutation	SNP	ENST00000278947.5	37	c.514G>T	CCDS8390.1	.	.	.	.	.	.	.	.	.	.	C	6.732	0.503901	0.12822	.	.	ENSG00000149575	ENST00000278947	D	0.95853	-3.83	5.04	5.04	0.67666	Cytochrome c1, transmembrane anchor, C-terminal (1);	0.070570	0.64402	D	0.000015	D	0.85894	0.5803	N	0.08118	0	0.45403	D	0.998388	B	0.24963	0.115	B	0.15870	0.014	T	0.81824	-0.0755	10	0.02654	T	1	-22.5312	11.6275	0.51153	0.0:0.9183:0.0:0.0817	.	172	O60939	SCN2B_HUMAN	L	172	ENSP00000278947:V172L	ENSP00000278947:V172L	V	-	1	0	SCN2B	117542946	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.342000	0.43992	2.640000	0.89533	0.655000	0.94253	GTG		0.597	SCN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109748.2	NM_004588		12	59	1	0	0.105934	0.105934	0.108641	12	59				
C19orf67	646457	broad.mit.edu	37	19	14199324	14199324	+	5'Flank	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:14199324G>A	ENST00000548523.1	-	0	0				SAMD1_ENST00000533683.2_Missense_Mutation_p.R402C|C19orf67_ENST00000547589.1_5'Flank|SAMD1_ENST00000541938.1_5'Flank	NM_001277378.1	NP_001264307.1	A6NJJ6	CS067_HUMAN	chromosome 19 open reading frame 67											central_nervous_system(1)	1						GGCCCGAGGCGGATGGACAGG	0.577																																						ENST00000533683.2																			0				endometrium(3)	3						c.(1204-1206)Cgc>Tgc		sterile alpha motif domain containing 1							58.0	64.0	62.0					19																	14199324		2043	4169	6212	SO:0001631	upstream_gene_variant	90378					cytoplasm|extracellular region		g.chr19:14199324G>A		CCDS59360.1	19p13.12	2008-07-02			ENSG00000188032	ENSG00000188032			34354	protein-coding gene	gene with protein product							Standard	NM_001277378		Approved		uc031rjr.1	A6NJJ6			19.37:g.14199324G>A	Exception_encountered						p.R402C	NM_138352.1	NP_612361.1	Q6SPF0	SAMD1_HUMAN		GBM - Glioblastoma multiforme(1328;0.000411)|STAD - Stomach adenocarcinoma(1328;0.00644)|Lung(535;0.199)	5	1491	-		Renal(1328;0.00183)|Hepatocellular(1079;0.00826)	508						Missense_Mutation	SNP	ENST00000548523.1	37	c.1204C>T	CCDS59360.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502359	0.44455	.	.	ENSG00000141858	ENST00000533683;ENST00000269724	T;T	0.50813	0.73;0.73	4.48	2.34	0.29019	.	0.000000	0.64402	D	0.000001	T	0.53722	0.1814	L	0.40543	1.245	0.48696	D	0.999691	D	0.89917	1.0	D	0.83275	0.996	T	0.52351	-0.8587	10	0.87932	D	0	-9.0353	6.5325	0.22334	0.2208:0.0:0.7792:0.0	.	402	E9PIW9	.	C	402;102	ENSP00000431971:R402C;ENSP00000269724:R102C	ENSP00000269724:R102C	R	-	1	0	SAMD1	14060324	1.000000	0.71417	0.999000	0.59377	0.504000	0.33889	2.551000	0.45820	0.511000	0.28236	0.557000	0.71058	CGC		0.577	C19orf67-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403368.1	XM_929382		10	36	0	0	0	0.058154	0	10	36				
SRSF5	6430	broad.mit.edu	37	14	70237755	70237755	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr14:70237755G>A	ENST00000553521.1	+	8	1937	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	SRSF5_ENST00000394366.2_Missense_Mutation_p.E162K|SRSF5_ENST00000553635.1_Missense_Mutation_p.E159K|SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000557154.1_Missense_Mutation_p.E162K			Q13243	SRSF5_HUMAN	serine/arginine-rich splicing factor 5	162	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of cell cycle (GO:0051726)|response to wounding (GO:0009611)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(1)|liver(1)	2						GAATGCTATTGAAAAACTTTC	0.328																																						ENST00000553521.1																			0				large_intestine(1)|liver(1)	2						c.(484-486)Gaa>Aaa		serine/arginine-rich splicing factor 5							105.0	107.0	107.0					14																	70237755		2203	4300	6503	SO:0001583	missense	6430				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr14:70237755G>A	AF020307	CCDS32109.1	14q24	2013-02-12	2010-06-22	2010-06-22	ENSG00000100650	ENSG00000100650		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10787	protein-coding gene	gene with protein product	"""SR splicing factor 5"""	600914	"""splicing factor, arginine/serine-rich 5"""	SFRS5		7686911, 20516191	Standard	XM_005267998		Approved	SRP40, HRS	uc001xlp.3	Q13243		ENST00000553521.1:c.484G>A	14.37:g.70237755G>A	ENSP00000452123:p.Glu162Lys					SRSF5_ENST00000553635.1_Missense_Mutation_p.E159K|SRSF5_ENST00000557154.1_Missense_Mutation_p.E162K|SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000394366.2_Missense_Mutation_p.E162K	p.E162K			Q13243	SRSF5_HUMAN			8	1937	+			162			RRM 2.		O14797|Q16662|Q49AD6|Q6FGE0	Missense_Mutation	SNP	ENST00000553521.1	37	c.484G>A	CCDS32109.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144889	0.57044	.	.	ENSG00000100650	ENST00000553521;ENST00000394366;ENST00000557154;ENST00000553635	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	5.78	5.78	0.91487	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.149611	0.64402	D	0.000014	T	0.16685	0.0401	N	0.25426	0.745	0.80722	D	1	B;B	0.27013	0.054;0.166	B;B	0.25506	0.061;0.038	T	0.03555	-1.1025	10	0.72032	D	0.01	.	20.0022	0.97423	0.0:0.0:1.0:0.0	.	159;162	Q13243-3;Q13243	.;SRSF5_HUMAN	K	162;162;162;159	ENSP00000452123:E162K;ENSP00000377892:E162K;ENSP00000451088:E162K;ENSP00000451391:E159K	ENSP00000377892:E162K	E	+	1	0	SRSF5	69307508	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.573000	0.74009	2.738000	0.93877	0.655000	0.94253	GAA		0.328	SRSF5-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412456.1	NM_001039465		14	51	0	0	0	0.119110	0	14	51				
ANKZF1	55139	broad.mit.edu	37	2	220098944	220098944	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:220098944G>A	ENST00000323348.5	+	9	1312	c.1138G>A	c.(1138-1140)Gaa>Aaa	p.E380K	GLB1L_ENST00000497855.1_5'Flank|ANKZF1_ENST00000410034.3_Missense_Mutation_p.E380K|ANKZF1_ENST00000409849.1_Missense_Mutation_p.E170K	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	380						membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TACTGAGGAAGAAATAAGAAA	0.468																																						ENST00000323348.5																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(1138-1140)Gaa>Aaa		ankyrin repeat and zinc finger domain containing 1							81.0	83.0	82.0					2																	220098944		1856	4100	5956	SO:0001583	missense	55139					intracellular	zinc ion binding	g.chr2:220098944G>A	AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"""Zinc fingers, C2H2-type"", ""Ankyrin repeat domain containing"""	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.1138G>A	2.37:g.220098944G>A	ENSP00000321617:p.Glu380Lys					ANKZF1_ENST00000410034.3_Missense_Mutation_p.E380K|ANKZF1_ENST00000409849.1_Missense_Mutation_p.E170K	p.E380K	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	9	1312	+		Renal(207;0.0474)	380					Q9NVZ4	Missense_Mutation	SNP	ENST00000323348.5	37	c.1138G>A	CCDS42821.1	.	.	.	.	.	.	.	.	.	.	G	1.749	-0.489800	0.04352	.	.	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	T;T;T	0.26518	1.73;1.92;1.73	4.27	2.48	0.30137	.	0.583594	0.16471	N	0.212977	T	0.14399	0.0348	L	0.29908	0.895	0.28780	N	0.899867	B;B;B	0.29531	0.019;0.093;0.247	B;B;B	0.24974	0.01;0.026;0.057	T	0.20638	-1.0269	10	0.15499	T	0.54	-8.364	6.6768	0.23098	0.2108:0.0:0.7892:0.0	.	324;170;380	B4DZT1;B4E0V1;Q9H8Y5	.;.;ANKZ1_HUMAN	K	380;170;380	ENSP00000321617:E380K;ENSP00000386815:E170K;ENSP00000386337:E380K	ENSP00000321617:E380K	E	+	1	0	ANKZF1	219807188	1.000000	0.71417	0.956000	0.39512	0.513000	0.34164	1.983000	0.40648	0.750000	0.32877	0.655000	0.94253	GAA		0.468	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	NM_018089		9	51	0	0	0	0.047766	0	9	51				
APLP2	334	broad.mit.edu	37	11	129999970	129999970	+	Missense_Mutation	SNP	G	G	A	rs140505383	byFrequency	TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:129999970G>A	ENST00000263574.5	+	11	1565	c.1493G>A	c.(1492-1494)cGt>cAt	p.R498H	APLP2_ENST00000338167.5_Missense_Mutation_p.R498H|APLP2_ENST00000345598.5_Missense_Mutation_p.R269H|APLP2_ENST00000543137.1_Missense_Mutation_p.R405H|APLP2_ENST00000539648.1_Missense_Mutation_p.R286H|APLP2_ENST00000528499.1_Missense_Mutation_p.R442H|APLP2_ENST00000278756.7_Missense_Mutation_p.R508H	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	498					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		CGTTATGTCCGTGCTGAGAAC	0.468													G|||	4	0.000798722	0.003	0.0	5008	,	,		18225	0.0		0.0	False		,,,				2504	0.0					ENST00000263574.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1492-1494)cGt>cAt		amyloid beta (A4) precursor-like protein 2		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	12,4390	19.1+/-41.9	0,12,2189	165.0	146.0	153.0		1493,1325,806,1493	5.3	1.0	11	dbSNP_134	153	0,8594		0,0,4297	yes	missense,missense,missense,missense	APLP2	NM_001142276.1,NM_001142277.1,NM_001142278.1,NM_001642.2	29,29,29,29	0,12,6486	AA,AG,GG		0.0,0.2726,0.0923	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	498/752,442/696,269/523,498/764	129999970	12,12984	2201	4297	6498	SO:0001583	missense	334				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity	g.chr11:129999970G>A	L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.1493G>A	11.37:g.129999970G>A	ENSP00000263574:p.Arg498His					APLP2_ENST00000528499.1_Missense_Mutation_p.R442H|APLP2_ENST00000543137.1_Missense_Mutation_p.R405H|APLP2_ENST00000539648.1_Missense_Mutation_p.R286H|APLP2_ENST00000345598.5_Missense_Mutation_p.R269H|APLP2_ENST00000338167.5_Missense_Mutation_p.R498H|APLP2_ENST00000278756.7_Missense_Mutation_p.R508H	p.R498H	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)	11	1565	+	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	498					B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000263574.5	37	c.1493G>A	CCDS8486.1	.	.	.	.	.	.	.	.	.	.	G	33	5.233774	0.95207	0.002726	0.0	ENSG00000084234	ENST00000528499;ENST00000539648;ENST00000263574;ENST00000345598;ENST00000338167;ENST00000278756;ENST00000543137	T;T;T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46;0.46;0.46	5.33	5.33	0.75918	Amyloidogenic glycoprotein, E2 domain (2);	0.000000	0.85682	D	0.000000	T	0.74635	0.3742	M	0.82056	2.57	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;1.0;0.999;0.997;1.0;0.999;0.994	T	0.76072	-0.3093	10	0.48119	T	0.1	-16.5821	18.0139	0.89232	0.0:0.0:1.0:0.0	.	286;498;442;269;436;442;498	F5H845;Q06481;Q06481-2;Q06481-5;B4E3I5;Q06481-4;Q06481-3	.;APLP2_HUMAN;.;.;.;.;.	H	442;286;498;269;498;508;405	ENSP00000435914:R442H;ENSP00000443728:R286H;ENSP00000263574:R498H;ENSP00000263575:R269H;ENSP00000345444:R498H;ENSP00000278756:R508H;ENSP00000444122:R405H	ENSP00000263574:R498H	R	+	2	0	APLP2	129505180	1.000000	0.71417	0.989000	0.46669	0.997000	0.91878	7.540000	0.82074	2.506000	0.84524	0.655000	0.94253	CGT		0.468	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	NM_001642		4	124	0	0	0	0.150653	0	4	124				
FAM188B	84182	broad.mit.edu	37	7	30830790	30830790	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:30830790C>T	ENST00000265299.6	+	5	750	c.673C>T	c.(673-675)Cac>Tac	p.H225Y	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	225										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGATTCTTTTCACAGACACTA	0.512																																						ENST00000265299.6																			0				endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(673-675)Cac>Tac		family with sequence similarity 188, member B							138.0	144.0	142.0					7																	30830790		1914	4130	6044	SO:0001583	missense	84182							g.chr7:30830790C>T	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.673C>T	7.37:g.30830790C>T	ENSP00000265299:p.His225Tyr					INMT-FAM188B_ENST00000458257.1_3'UTR	p.H225Y	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN			5	750	+			225					Q71AZ7|Q9H6D2	Missense_Mutation	SNP	ENST00000265299.6	37	c.673C>T	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	C	5.038	0.192607	0.09599	.	.	ENSG00000106125	ENST00000265299	T	0.23348	1.91	4.2	2.39	0.29439	.	0.866831	0.10270	N	0.694884	T	0.21307	0.0513	L	0.44542	1.39	0.09310	N	1	B	0.24092	0.097	B	0.18871	0.023	T	0.24476	-1.0159	10	0.87932	D	0	-17.1133	6.7277	0.23365	0.0:0.7951:0.0:0.2049	.	225	Q4G0A6	F188B_HUMAN	Y	225	ENSP00000265299:H225Y	ENSP00000265299:H225Y	H	+	1	0	FAM188B	30797315	0.000000	0.05858	0.009000	0.14445	0.015000	0.08874	0.283000	0.18846	0.542000	0.28846	0.563000	0.77884	CAC		0.512	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222		48	149	0	0	0	0.139131	0	48	149				
RELN	5649	broad.mit.edu	37	7	103151303	103151303	+	Missense_Mutation	SNP	A	A	G	rs560897786		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:103151303A>G	ENST00000428762.1	-	51	8428	c.8269T>C	c.(8269-8271)Ttc>Ctc	p.F2757L	RELN_ENST00000424685.2_Missense_Mutation_p.F2757L|RELN_ENST00000343529.5_Missense_Mutation_p.F2757L|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2757					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTCACCTTGAATTGCATAATC	0.388													A|||	1	0.000199681	0.0	0.0	5008	,	,		16339	0.0		0.001	False		,,,				2504	0.0				NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(8269-8271)Ttc>Ctc		reelin							98.0	85.0	89.0					7																	103151303		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103151303A>G		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.8269T>C	7.37:g.103151303A>G	ENSP00000392423:p.Phe2757Leu					RELN_ENST00000343529.5_Missense_Mutation_p.F2757L|RELN_ENST00000428762.1_Missense_Mutation_p.F2757L|CTB-107G13.1_ENST00000422488.1_RNA	p.F2757L			P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	51	8428	-			2757					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.8269T>C	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	A	33	5.206833	0.95033	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.34275	1.37;1.37;1.37	5.65	5.65	0.86999	Neuraminidase (2);	0.000000	0.85682	D	0.000000	T	0.59169	0.2174	M	0.69358	2.11	0.58432	D	0.999998	D;D	0.54047	0.961;0.964	P;D	0.70227	0.886;0.968	T	0.62369	-0.6869	10	0.87932	D	0	.	15.8717	0.79127	1.0:0.0:0.0:0.0	.	2757;2757	P78509-2;P78509	.;RELN_HUMAN	L	2757;2757;2757;274;2757	ENSP00000392423:F2757L;ENSP00000345694:F2757L;ENSP00000388446:F2757L	ENSP00000345694:F2757L	F	-	1	0	RELN	102938539	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.930000	0.92872	2.148000	0.66965	0.523000	0.50628	TTC		0.388	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		8	28	0	0	0	0.047766	0	8	28				
BANK1	55024	broad.mit.edu	37	4	102751026	102751026	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr4:102751026G>C	ENST00000322953.4	+	2	406	c.132G>C	c.(130-132)ttG>ttC	p.L44F	BANK1_ENST00000504592.1_Missense_Mutation_p.L29F|BANK1_ENST00000428908.1_Intron|BANK1_ENST00000444316.2_Missense_Mutation_p.L14F|BANK1_ENST00000508653.1_Intron	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	44	Interaction with ITPR2.				B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		CTCTGTACTTGACAGAAGTAT	0.333																																						ENST00000504592.1																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44						c.(85-87)ttG>ttC		B-cell scaffold protein with ankyrin repeats 1							62.0	63.0	63.0					4																	102751026		2203	4300	6503	SO:0001583	missense	55024				B cell activation			g.chr4:102751026G>C	AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.132G>C	4.37:g.102751026G>C	ENSP00000320509:p.Leu44Phe					BANK1_ENST00000508653.1_Intron|BANK1_ENST00000444316.2_Missense_Mutation_p.L14F|BANK1_ENST00000322953.4_Missense_Mutation_p.L44F|BANK1_ENST00000428908.1_Intron	p.L29F			Q8NDB2	BANK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)	6	505	+		Hepatocellular(203;0.217)	44			Interaction with ITPR2.		A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	ENST00000322953.4	37	c.87G>C	CCDS34038.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.694179	0.48202	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000444316	T;T;T	0.24151	1.87;1.87;1.87	5.18	4.34	0.51931	.	0.121724	0.34067	N	0.004289	T	0.44973	0.1319	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.39761	-0.9598	10	0.87932	D	0	.	9.1543	0.36983	0.1838:0.0:0.8162:0.0	.	44;29	Q8NDB2;Q8NDB2-2	BANK1_HUMAN;.	F	29;44;14	ENSP00000421443:L29F;ENSP00000320509:L44F;ENSP00000388817:L14F	ENSP00000320509:L44F	L	+	3	2	BANK1	102970049	0.994000	0.37717	0.575000	0.28536	0.561000	0.35649	2.088000	0.41663	1.177000	0.42855	0.650000	0.86243	TTG		0.333	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935		4	47	0	0	0	0.150653	0	4	47				
IL10RA	3587	broad.mit.edu	37	11	117869847	117869847	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:117869847G>A	ENST00000227752.3	+	7	1348	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K	IL10RA_ENST00000545409.1_Missense_Mutation_p.E261K|IL10RA_ENST00000541785.1_Missense_Mutation_p.E390K|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	410					cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		TCAAAACTCTGAGGGCCGGGC	0.652																																						ENST00000227752.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19						c.(1228-1230)Gag>Aag		interleukin 10 receptor, alpha							42.0	45.0	44.0					11																	117869847		2200	4296	6496	SO:0001583	missense	3587					integral to membrane|plasma membrane	interleukin-10 receptor activity	g.chr11:117869847G>A	U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324		"""Interleukins and interleukin receptors"", ""CD molecules"""	5964	protein-coding gene	gene with protein product		146933		IL10R		8120391	Standard	NR_026691		Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.1228G>A	11.37:g.117869847G>A	ENSP00000227752:p.Glu410Lys					IL10RA_ENST00000545409.1_Missense_Mutation_p.E261K|IL10RA_ENST00000541785.1_Missense_Mutation_p.E390K|IL10RA_ENST00000533700.1_3'UTR	p.E410K	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)	7	1348	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	410					A8K6I0|B0YJ27	Missense_Mutation	SNP	ENST00000227752.3	37	c.1228G>A	CCDS8388.1	.	.	.	.	.	.	.	.	.	.	G	9.417	1.081969	0.20309	.	.	ENSG00000110324	ENST00000227752;ENST00000541785;ENST00000545409;ENST00000536858	T;T;T	0.21361	2.01;2.01;2.01	5.72	-2.72	0.05968	.	1.808010	0.02339	N	0.074640	T	0.15132	0.0365	L	0.51422	1.61	0.09310	N	1	B;B	0.28933	0.228;0.146	B;B	0.24394	0.053;0.038	T	0.17107	-1.0380	10	0.06236	T	0.91	-1.0389	5.1909	0.15209	0.4387:0.288:0.2733:0.0	.	390;410	F5GYV8;Q13651	.;I10R1_HUMAN	K	410;390;261;390	ENSP00000227752:E410K;ENSP00000441397:E390K;ENSP00000443019:E261K	ENSP00000227752:E410K	E	+	1	0	IL10RA	117375057	0.000000	0.05858	0.001000	0.08648	0.381000	0.30169	-0.179000	0.09768	-0.120000	0.11809	-0.222000	0.12452	GAG		0.652	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390167.1			10	41	0	0	0	0.058154	0	10	41				
KCNJ15	3772	broad.mit.edu	37	21	39671493	39671493	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr21:39671493C>G	ENST00000328656.4	+	4	613	c.310C>G	c.(310-312)Cat>Gat	p.H104D	KCNJ15_ENST00000398934.1_Missense_Mutation_p.H104D|KCNJ15_ENST00000398938.2_Missense_Mutation_p.H104D|KCNJ15_ENST00000398932.1_Missense_Mutation_p.H104D|KCNJ15_ENST00000398930.1_Missense_Mutation_p.H104D	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	KCJ15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	104					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24					Yohimbine(DB01392)	CATTTCAAATCATACCCCCTG	0.493																																						ENST00000398930.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						c.(310-312)Cat>Gat		potassium inwardly-rectifying channel, subfamily J, member 15							110.0	110.0	110.0					21																	39671493		2203	4300	6503	SO:0001583	missense	3772				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity	g.chr21:39671493C>G	Y10745	CCDS13656.1	21q22.2	2011-07-05			ENSG00000157551	ENSG00000157551		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6261	protein-coding gene	gene with protein product		602106				9299242, 8995301, 16382105	Standard	NM_170736		Approved	Kir4.2, Kir1.3, IRKK	uc002ywx.4	Q99712	OTTHUMG00000090609	ENST00000328656.4:c.310C>G	21.37:g.39671493C>G	ENSP00000331698:p.His104Asp					KCNJ15_ENST00000328656.3_Missense_Mutation_p.H104D|KCNJ15_ENST00000398934.1_Missense_Mutation_p.H104D|KCNJ15_ENST00000398938.2_Missense_Mutation_p.H104D|KCNJ15_ENST00000398932.1_Missense_Mutation_p.H104D	p.H104D			Q99712	IRK15_HUMAN			4	664	+			104					D3DSH5|O00564|Q96L28|Q99446	Missense_Mutation	SNP	ENST00000328656.4	37	c.310C>G	CCDS13656.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.092425	0.55968	.	.	ENSG00000157551	ENST00000328656;ENST00000398928;ENST00000398938;ENST00000398932;ENST00000438657;ENST00000398930;ENST00000398934;ENST00000398927;ENST00000419868	D;D;D;D;D;D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3	5.43	5.43	0.79202	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.115588	0.56097	D	0.000022	D	0.94305	0.8170	M	0.64630	1.985	0.58432	D	0.999998	P	0.43287	0.802	P	0.49361	0.608	D	0.93470	0.6818	9	.	.	.	.	18.2239	0.89910	0.0:1.0:0.0:0.0	.	104	Q99712	IRK15_HUMAN	D	104	ENSP00000331698:H104D;ENSP00000381902:H104D;ENSP00000381911:H104D;ENSP00000381905:H104D;ENSP00000414487:H104D;ENSP00000381904:H104D;ENSP00000381907:H104D;ENSP00000381901:H104D;ENSP00000400849:H104D	.	H	+	1	0	KCNJ15	38593363	1.000000	0.71417	0.971000	0.41717	0.509000	0.34042	4.784000	0.62411	2.554000	0.86153	0.655000	0.94253	CAT		0.493	KCNJ15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207181.2	NM_002243		20	73	0	0	0	0.062417	0	20	73				
CCDC88A	55704	broad.mit.edu	37	2	55561402	55561402	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:55561402A>T	ENST00000436346.1	-	15	3396	c.2555T>A	c.(2554-2556)tTa>tAa	p.L852*	AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000263630.8_Nonsense_Mutation_p.L852*|CCDC88A_ENST00000413716.2_Nonsense_Mutation_p.L852*|CCDC88A_ENST00000336838.6_Nonsense_Mutation_p.L852*	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	852					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						ATTTTCTTCTAATGTGGTATC	0.323																																						ENST00000436346.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						c.(2554-2556)tTa>tAa		coiled-coil domain containing 88A							118.0	115.0	116.0					2																	55561402		2203	4296	6499	SO:0001587	stop_gained	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55561402A>T	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.2555T>A	2.37:g.55561402A>T	ENSP00000410608:p.Leu852*					CCDC88A_ENST00000413716.2_Nonsense_Mutation_p.L852*|CCDC88A_ENST00000336838.6_Nonsense_Mutation_p.L852*|CCDC88A_ENST00000263630.8_Nonsense_Mutation_p.L852*|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA	p.L852*	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN			15	3396	-			852					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Nonsense_Mutation	SNP	ENST00000436346.1	37	c.2555T>A		.	.	.	.	.	.	.	.	.	.	A	21.9	4.220554	0.79464	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716;ENST00000426576	.	.	.	5.43	5.43	0.79202	.	0.000000	0.37623	U	0.002012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5273	15.8334	0.78778	1.0:0.0:0.0:0.0	.	.	.	.	X	852;852;852;852;27	.	ENSP00000263630:L852X	L	-	2	0	CCDC88A	55414906	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.249000	0.78278	2.200000	0.70718	0.451000	0.29950	TTA		0.323	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		15	70	0	0	0	0.132662	0	15	70				
CD163	9332	broad.mit.edu	37	12	7639395	7639395	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr12:7639395G>A	ENST00000359156.4	-	10	2360	c.2158C>T	c.(2158-2160)Cgc>Tgc	p.R720C	CD163_ENST00000539632.1_5'Flank|CD163_ENST00000541972.1_Missense_Mutation_p.R708C|CD163_ENST00000396620.3_Missense_Mutation_p.R753C|CD163_ENST00000432237.2_Missense_Mutation_p.R720C	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	720	SRCR 7. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	TTTACCAGGCGAAGTTGACCA	0.448																																						ENST00000359156.4																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(2158-2160)Cgc>Tgc		CD163 molecule							76.0	74.0	75.0					12																	7639395		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7639395G>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.2158C>T	12.37:g.7639395G>A	ENSP00000352071:p.Arg720Cys					CD163_ENST00000432237.2_Missense_Mutation_p.R720C|CD163_ENST00000396620.3_Missense_Mutation_p.R753C|CD163_ENST00000541972.1_Missense_Mutation_p.R708C	p.R720C	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN			10	2360	-			720			SRCR 7.		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.2158C>T	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.570658	0.65765	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.54	5.54	0.83059	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.246289	0.34110	N	0.004246	D	0.82774	0.5110	H	0.97440	4.005	0.53688	D	0.999978	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.969;1.0;0.975	D	0.88456	0.3052	10	0.87932	D	0	.	17.3432	0.87303	0.0:0.0:1.0:0.0	.	753;720;720	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	C	720;708;753;720	ENSP00000352071:R720C;ENSP00000444071:R708C;ENSP00000379863:R753C;ENSP00000403885:R720C	ENSP00000352071:R720C	R	-	1	0	CD163	7530662	0.004000	0.15560	0.966000	0.40874	0.955000	0.61496	0.224000	0.17738	2.776000	0.95493	0.650000	0.86243	CGC		0.448	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		20	67	0	0	0	0.043863	0	20	67				
SH3TC1	54436	broad.mit.edu	37	4	8230222	8230222	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr4:8230222C>T	ENST00000245105.3	+	12	2868	c.2801C>T	c.(2800-2802)tCg>tTg	p.S934L	SH3TC1_ENST00000539824.1_Missense_Mutation_p.S858L	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	934										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CGGCTGTTCTCGAGGCTGCCC	0.711																																					NSCLC(145;2298 2623 35616 37297)	ENST00000539824.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2572-2574)tCg>tTg		SH3 domain and tetratricopeptide repeats 1							22.0	26.0	25.0					4																	8230222		2199	4296	6495	SO:0001583	missense	54436						binding	g.chr4:8230222C>T	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.2801C>T	4.37:g.8230222C>T	ENSP00000245105:p.Ser934Leu					SH3TC1_ENST00000245105.3_Missense_Mutation_p.S934L	p.S858L			Q8TE82	S3TC1_HUMAN			12	2947	+			934					Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	c.2573C>T	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.336873	0.41398	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.63255	-0.03;-0.03	4.63	4.63	0.57726	Tetratricopeptide-like helical (1);	0.067782	0.64402	D	0.000011	T	0.57125	0.2032	L	0.54323	1.7	0.47621	D	0.999472	P	0.45827	0.867	B	0.37387	0.248	T	0.63541	-0.6614	10	0.44086	T	0.13	-20.5004	17.478	0.87666	0.0:1.0:0.0:0.0	.	934	Q8TE82	S3TC1_HUMAN	L	672;934;858;763	ENSP00000245105:S934L;ENSP00000441045:S858L	ENSP00000245105:S934L	S	+	2	0	SH3TC1	8281122	0.998000	0.40836	0.856000	0.33681	0.004000	0.04260	4.062000	0.57492	2.112000	0.64535	0.561000	0.74099	TCG		0.711	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		12	27	0	0	0	0.080935	0	12	27				
DOCK2	1794	broad.mit.edu	37	5	169503008	169503008	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:169503008C>T	ENST00000256935.8	+	47	4866	c.4786C>T	c.(4786-4788)Cga>Tga	p.R1596*	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Nonsense_Mutation_p.R657*|DOCK2_ENST00000520908.1_Nonsense_Mutation_p.R1088*	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1596	DHR-2.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGATAACTTGCGACCCTTCCA	0.502																																						ENST00000256935.8																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(4786-4788)Cga>Tga		dedicator of cytokinesis 2							161.0	158.0	159.0					5																	169503008		2203	4300	6503	SO:0001587	stop_gained	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169503008C>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4786C>T	5.37:g.169503008C>T	ENSP00000256935:p.Arg1596*					DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Nonsense_Mutation_p.R657*|DOCK2_ENST00000520908.1_Nonsense_Mutation_p.R1088*	p.R1596*	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		47	4866	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1596			DHR-2.		Q2M3I0|Q96AK7	Nonsense_Mutation	SNP	ENST00000256935.8	37	c.4786C>T	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	C	50	17.264852	0.99882	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	.	.	.	5.18	3.34	0.38264	.	0.064498	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3087	0.66400	0.2713:0.7287:0.0:0.0	.	.	.	.	X	1596;1088;657	.	ENSP00000256935:R1596X	R	+	1	2	DOCK2	169435586	1.000000	0.71417	0.994000	0.49952	0.509000	0.34042	1.863000	0.39459	0.655000	0.30866	-0.158000	0.13435	CGA		0.502	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		34	86	0	0	0	0.183431	0	34	86				
SH3BP4	23677	broad.mit.edu	37	2	235962446	235962446	+	Missense_Mutation	SNP	G	G	A	rs200804299		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:235962446G>A	ENST00000409212.1	+	6	3385	c.2878G>A	c.(2878-2880)Gac>Aac	p.D960N	SH3BP4_ENST00000392011.2_Missense_Mutation_p.D960N|SH3BP4_ENST00000344528.4_Missense_Mutation_p.D960N			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	960					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GGACCAGGACGACTTCGTGAT	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		13119	0.0		0.001	False		,,,				2504	0.0					ENST00000409212.1																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44						c.(2878-2880)Gac>Aac		SH3-domain binding protein 4							95.0	93.0	94.0					2																	235962446		2203	4300	6503	SO:0001583	missense	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235962446G>A	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.2878G>A	2.37:g.235962446G>A	ENSP00000386862:p.Asp960Asn					SH3BP4_ENST00000392011.2_Missense_Mutation_p.D960N|SH3BP4_ENST00000344528.4_Missense_Mutation_p.D960N	p.D960N			Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	6	3385	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	960					O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	c.2878G>A	CCDS2513.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	25.2	4.618419	0.87359	.	.	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000409212;ENST00000344528;ENST00000538289	T;T;T	0.12039	2.72;2.72;2.72	5.99	5.12	0.69794	.	0.143846	0.64402	D	0.000009	T	0.27663	0.0680	M	0.67953	2.075	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.53760	0.734;0.734	T	0.02226	-1.1192	10	0.56958	D	0.05	-34.5805	14.0067	0.64468	0.0727:0.0:0.9273:0.0	.	960;960	A8K594;Q9P0V3	.;SH3B4_HUMAN	N	960;550;960;960;198	ENSP00000375867:D960N;ENSP00000386862:D960N;ENSP00000340237:D960N	ENSP00000340237:D960N	D	+	1	0	SH3BP4	235627185	1.000000	0.71417	0.106000	0.21319	0.001000	0.01503	9.474000	0.97718	1.545000	0.49373	-0.140000	0.14226	GAC		0.622	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			10	72	0	0	0	0.069234	0	10	72				
CHRD	8646	broad.mit.edu	37	3	184100495	184100495	+	Silent	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:184100495C>T	ENST00000204604.1	+	8	1161	c.915C>T	c.(913-915)ctC>ctT	p.L305L	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Silent_p.L305L|CHRD_ENST00000545352.1_5'UTR|CHRD_ENST00000348986.3_Silent_p.L305L	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	305	CHRD 2. {ECO:0000255|PROSITE- ProRule:PRU00230}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGCTCACTCTCAGTGACACAG	0.592																																						ENST00000204604.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(913-915)ctC>ctT		chordin							73.0	79.0	77.0					3																	184100495		2203	4300	6503	SO:0001819	synonymous_variant	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184100495C>T	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.915C>T	3.37:g.184100495C>T						CHRD_ENST00000450923.1_Silent_p.L305L|CHRD_ENST00000545352.1_5'UTR|CHRD_ENST00000348986.3_Silent_p.L305L|EIF2B5_ENST00000444495.1_Intron	p.L305L	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		8	1161	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		305			CHRD 2.		O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Silent	SNP	ENST00000204604.1	37	c.915C>T	CCDS3266.1																																																																																				0.592	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		24	93	0	0	0	0.083992	0	24	93				
FAT1	2195	broad.mit.edu	37	4	187531171	187531171	+	Splice_Site	SNP	T	T	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr4:187531171T>A	ENST00000441802.2	-	15	10063		c.e15-2			NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1						actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATACGGCCCCTGAATAGAAAT	0.413										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.e15-2		FAT atypical cadherin 1							47.0	47.0	47.0					4																	187531171		1852	4092	5944	SO:0001630	splice_region_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187531171T>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.9854-2A>T	4.37:g.187531171T>A		HNSCC(5;0.00058)						NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			15	10063	-									Splice_Site	SNP	ENST00000441802.2	37		CCDS47177.1	.	.	.	.	.	.	.	.	.	.	T	12.35	1.911414	0.33721	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7597	0.78070	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAT1	187768165	1.000000	0.71417	0.978000	0.43139	0.149000	0.21700	7.805000	0.86005	2.304000	0.77564	0.528000	0.53228	.		0.413	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	Intron	5	12	0	0	0	0.014758	0	5	12				
CA4	762	broad.mit.edu	37	17	58235751	58235751	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr17:58235751G>A	ENST00000300900.4	+	7	787	c.688G>A	c.(688-690)Gat>Aat	p.D230N		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	230					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|organ development (GO:0048513)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	ACCGACCTGCGATGAGAAGGT	0.612																																						ENST00000300900.4																			0				kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9						c.(688-690)Gat>Aat		carbonic anhydrase IV	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)						96.0	75.0	82.0					17																	58235751		2203	4300	6503	SO:0001583	missense	762				bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding	g.chr17:58235751G>A	L10955	CCDS11624.1	17q23.1	2012-08-21			ENSG00000167434	ENSG00000167434	4.2.1.1	"""Carbonic anhydrases"""	1375	protein-coding gene	gene with protein product		114760	"""retinitis pigmentosa 17 (autosomal dominant)"""	RP17		8325641	Standard	NM_000717		Approved	CAIV, Car4	uc002iym.4	P22748		ENST00000300900.4:c.688G>A	17.37:g.58235751G>A	ENSP00000300900:p.Asp230Asn						p.D230N	NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		7	787	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		230					B4DQA4|Q6FHI7	Missense_Mutation	SNP	ENST00000300900.4	37	c.688G>A	CCDS11624.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575537	0.65878	.	.	ENSG00000167434	ENST00000300900	T	0.71579	-0.58	5.54	-2.25	0.06888	Carbonic anhydrase, alpha-class, catalytic domain (4);	1.177010	0.05921	N	0.633462	T	0.64405	0.2595	N	0.25992	0.78	0.09310	N	1	D	0.69078	0.997	P	0.54965	0.765	T	0.57694	-0.7767	10	0.25751	T	0.34	.	6.173	0.20429	0.0784:0.4691:0.3278:0.1247	.	230	P22748	CAH4_HUMAN	N	230	ENSP00000300900:D230N	ENSP00000300900:D230N	D	+	1	0	CA4	55590533	0.000000	0.05858	0.000000	0.03702	0.439000	0.31926	-1.271000	0.02828	0.012000	0.14892	0.491000	0.48974	GAT		0.612	CA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449189.1	NM_000717		11	32	0	0	0	0.080935	0	11	32				
PEX1	5189	broad.mit.edu	37	7	92146808	92146808	+	Missense_Mutation	SNP	G	G	C	rs137856931		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:92146808G>C	ENST00000248633.4	-	5	1116	c.1021C>G	c.(1021-1023)Cca>Gca	p.P341A	PEX1_ENST00000541751.1_5'Flank|PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Missense_Mutation_p.P341A	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	341					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TGTTGCTTTGGAGAAAGTAGC	0.368																																						ENST00000248633.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1021-1023)Cca>Gca		peroxisomal biogenesis factor 1		G	ALA/PRO	0,4406		0,0,2203	68.0	68.0	68.0		1021	5.9	1.0	7	dbSNP_134	68	1,8599	1.2+/-3.3	0,1,4299	no	missense	PEX1	NM_000466.2	27	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	probably-damaging	341/1284	92146808	1,13005	2203	4300	6503	SO:0001583	missense	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92146808G>C	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.1021C>G	7.37:g.92146808G>C	ENSP00000248633:p.Pro341Ala					PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Missense_Mutation_p.P341A	p.P341A	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		5	1116	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	341					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	c.1021C>G	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357811	0.82243	0.0	1.16E-4	ENSG00000127980	ENST00000248633;ENST00000428214;ENST00000545192	D;D	0.99277	-5.0;-5.67	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.99058	0.9677	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.99921	1.1252	10	0.59425	D	0.04	-15.1395	20.3632	0.98871	0.0:0.0:1.0:0.0	.	133;341	B4DER6;O43933	.;PEX1_HUMAN	A	341	ENSP00000248633:P341A;ENSP00000394413:P341A	ENSP00000248633:P341A	P	-	1	0	PEX1	91984744	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.892000	0.87324	2.826000	0.97356	0.561000	0.74099	CCA		0.368	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		13	39	0	0	0	0.093190	0	13	39				
PDE4DIP	9659	broad.mit.edu	37	1	145015938	145015938	+	Silent	SNP	C	C	T	rs144857876	byFrequency	TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:145015938C>T	ENST00000530740.1	-	3	401	c.363G>A	c.(361-363)ccG>ccA	p.P121P	PDE4DIP_ENST00000313382.9_Silent_p.P50P|PDE4DIP_ENST00000369348.3_Silent_p.P121P|RP11-326G21.1_ENST00000610119.1_RNA|PDE4DIP_ENST00000493130.2_Silent_p.P50P|PDE4DIP_ENST00000478649.2_Silent_p.P50P|PDE4DIP_ENST00000369359.4_Silent_p.P121P			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.P121P(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCTGCACAAACGGGACCTTTT	0.443			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		1	Substitution - coding silent(1)	p.P121P(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(361-363)ccG>ccA		phosphodiesterase 4D interacting protein		C	,	1,4405		0,1,2202	338.0	381.0	366.0		150,363	-9.6	0.0	1	dbSNP_134	366	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	PDE4DIP	NM_001198832.1,NM_022359.5	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	50/2241,121/311	145015938	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:145015938C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000530740.1:c.363G>A	1.37:g.145015938C>T						PDE4DIP_ENST00000493130.2_Silent_p.P50P|PDE4DIP_ENST00000478649.2_Silent_p.P50P|PDE4DIP_ENST00000530740.1_Silent_p.P121P|PDE4DIP_ENST00000313382.9_Silent_p.P50P|PDE4DIP_ENST00000369348.3_Silent_p.P121P	p.P121P			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	3	401	-			0					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000530740.1	37	c.363G>A																																																																																					0.443	PDE4DIP-036	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000384663.2	NM_022359		29	492	0	0	0	0.116897	0	29	492				
NR1D1	9572	broad.mit.edu	37	17	38251870	38251870	+	Missense_Mutation	SNP	G	G	A	rs373443634		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr17:38251870G>A	ENST00000246672.3	-	5	1705	c.1075C>T	c.(1075-1077)Cgc>Tgc	p.R359C		NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	359	Ligand-binding.				cell differentiation (GO:0030154)|cellular response to lipopolysaccharide (GO:0071222)|circadian regulation of gene expression (GO:0032922)|circadian temperature homeostasis (GO:0060086)|gene expression (GO:0010467)|glycogen biosynthetic process (GO:0005978)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of bile acid biosynthetic process (GO:0070859)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasomal protein catabolic process (GO:0010498)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of lipid metabolic process (GO:0019216)|regulation of type B pancreatic cell proliferation (GO:0061469)|response to leptin (GO:0044321)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|heme binding (GO:0020037)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|transcription corepressor binding (GO:0001222)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					GGAGCCTGGCGCAGACCATTT	0.637																																						ENST00000246672.3																			0				endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11						c.(1075-1077)Cgc>Tgc		nuclear receptor subfamily 1, group D, member 1							110.0	100.0	104.0					17																	38251870		2203	4300	6503	SO:0001583	missense	9572				cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38251870G>A	X72631	CCDS11361.1	17q11.2	2013-01-16			ENSG00000126368	ENSG00000126368		"""Nuclear hormone receptors"""	7962	protein-coding gene	gene with protein product		602408		THRAL		1971514	Standard	NM_021724		Approved	ear-1, hRev, Rev-ErbAalpha, THRA1	uc002htz.3	P20393	OTTHUMG00000133327	ENST00000246672.3:c.1075C>T	17.37:g.38251870G>A	ENSP00000246672:p.Arg359Cys						p.R359C	NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN			5	1705	-	Colorectal(19;0.000442)		359					Q0P5Z4|Q15304	Missense_Mutation	SNP	ENST00000246672.3	37	c.1075C>T	CCDS11361.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.600187	0.28534	.	.	ENSG00000126368	ENST00000246672	D	0.90788	-2.73	4.55	4.55	0.56014	Nuclear hormone receptor, ligand-binding (1);	0.792656	0.11638	N	0.544148	D	0.87330	0.6150	L	0.44542	1.39	0.38535	D	0.949071	B	0.02656	0.0	B	0.06405	0.002	D	0.83375	0.0009	10	0.52906	T	0.07	.	13.0071	0.58712	0.0:0.0:1.0:0.0	.	359	P20393	NR1D1_HUMAN	C	359	ENSP00000246672:R359C	ENSP00000246672:R359C	R	-	1	0	NR1D1	35505396	0.005000	0.15991	1.000000	0.80357	0.763000	0.43281	1.430000	0.34914	2.517000	0.84864	0.655000	0.94253	CGC		0.637	NR1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257135.1			4	84	0	0	0	0.014758	0	4	84				
DGAT2	84649	broad.mit.edu	37	11	75508295	75508295	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:75508295G>C	ENST00000228027.7	+	6	987	c.727G>C	c.(727-729)Gag>Cag	p.E243Q	DGAT2_ENST00000376262.3_Missense_Mutation_p.E200Q	NM_032564.4	NP_115953.2	Q96PD7	DGAT2_HUMAN	diacylglycerol O-acyltransferase 2	243					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|cellular response to oleic acid (GO:0071400)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|diacylglycerol metabolic process (GO:0046339)|fat pad development (GO:0060613)|fatty acid homeostasis (GO:0055089)|glycerol metabolic process (GO:0006071)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)|protein homodimerization activity (GO:0042803)|retinol O-fatty-acyltransferase activity (GO:0050252)			endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					GGGTGCGGCTGAGTCTCTGAG	0.572																																					Melanoma(35;811 1096 8354 24009 39363)	ENST00000228027.7																			0				endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17						c.(727-729)Gag>Cag		diacylglycerol O-acyltransferase 2							144.0	124.0	131.0					11																	75508295		2200	4293	6493	SO:0001583	missense	84649				glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity	g.chr11:75508295G>C		CCDS31642.1, CCDS58162.1	11q13.3	2010-06-24	2010-06-24		ENSG00000062282	ENSG00000062282			16940	protein-coding gene	gene with protein product		606983	"""diacylglycerol O-acyltransferase homolog 2 (mouse)"""			11481335, 14970677	Standard	NM_032564		Approved		uc001oxa.3	Q96PD7	OTTHUMG00000165338	ENST00000228027.7:c.727G>C	11.37:g.75508295G>C	ENSP00000228027:p.Glu243Gln					DGAT2_ENST00000376262.3_Missense_Mutation_p.E200Q	p.E243Q	NM_032564.4	NP_115953.2	Q96PD7	DGAT2_HUMAN			6	987	+	Ovarian(111;0.103)		243					A6ND76|Q5U810|Q68CL3|Q68DJ0|Q8NDB7|Q96BS0|Q9BYE5	Missense_Mutation	SNP	ENST00000228027.7	37	c.727G>C	CCDS31642.1	.	.	.	.	.	.	.	.	.	.	G	32	5.110241	0.94292	.	.	ENSG00000062282	ENST00000524706;ENST00000228027;ENST00000376262;ENST00000525612	T;T	0.26518	1.73;1.73	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.66137	0.2759	H	0.95224	3.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.75634	-0.3250	10	0.87932	D	0	-48.1979	19.057	0.93069	0.0:0.0:1.0:0.0	.	200;243	Q96PD7-2;Q96PD7	.;DGAT2_HUMAN	Q	152;243;200;197	ENSP00000228027:E243Q;ENSP00000365438:E200Q	ENSP00000228027:E243Q	E	+	1	0	DGAT2	75185943	1.000000	0.71417	0.967000	0.41034	0.902000	0.53008	9.368000	0.97152	2.853000	0.98044	0.655000	0.94253	GAG		0.572	DGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383506.1	NM_032564		24	68	0	0	0	0.076483	0	24	68				
CD3EAP	10849	broad.mit.edu	37	19	45910392	45910392	+	Silent	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:45910392G>A	ENST00000309424.3	+	2	551	c.63G>A	c.(61-63)aaG>aaA	p.K21K	CD3EAP_ENST00000589804.1_Silent_p.K23K|PPP1R13L_ENST00000418234.2_5'Flank|PPP1R13L_ENST00000360957.5_5'Flank|ERCC1_ENST00000588738.1_5'Flank	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	21					rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TTACCGCGAAGCCCCCAGCCT	0.597																																						ENST00000309424.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						c.(61-63)aaG>aaA		CD3e molecule, epsilon associated protein							99.0	95.0	96.0					19																	45910392		2203	4300	6503	SO:0001819	synonymous_variant	10849				rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity	g.chr19:45910392G>A	U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"""CD3 epsilon associated protein"", ""antisense to ERCC 1"""	107325	"""CD3e antigen, epsilon polypeptide associated protein"""			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.63G>A	19.37:g.45910392G>A						CD3EAP_ENST00000589804.1_Silent_p.K23K	p.K21K	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0251)	2	551	+		all_neural(266;0.224)|Ovarian(192;0.231)	21					Q32N11|Q7Z5U2|Q9UPF6	Silent	SNP	ENST00000309424.3	37	c.63G>A	CCDS12661.1																																																																																				0.597	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459538.1	NM_012099		17	60	0	0	0	0.043863	0	17	60				
ZAN	7455	broad.mit.edu	37	7	100345237	100345237	+	RNA	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:100345237C>G	ENST00000348028.3	+	0	1161				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CTGTTTCTGTCAATTACACAG	0.512																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							93.0	88.0	90.0					7																	100345237		1949	4128	6077			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100345237C>G	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100345237C>G						ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	1144	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37																																																																																						0.512	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		14	45	0	0	0	0.132662	0	14	45				
ACLY	47	broad.mit.edu	37	17	40063716	40063716	+	Silent	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr17:40063716G>A	ENST00000352035.2	-	7	856	c.726C>T	c.(724-726)ttC>ttT	p.F242F	ACLY_ENST00000590151.1_Silent_p.F242F|ACLY_ENST00000353196.1_Silent_p.F242F|ACLY_ENST00000537919.1_Intron|ACLY_ENST00000393896.2_Silent_p.F242F	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	242	ATP-grasp.				ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)	p.F242F(1)	NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CCTCCCGCCCGAAGGGGGGAG	0.582																																					Colon(64;807 1396 15971 30971)	ENST00000352035.2																		NTN1/ACLY(2)	1	Substitution - coding silent(1)	p.F242F(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(724-726)ttC>ttT		ATP citrate lyase							74.0	74.0	74.0					17																	40063716		2203	4300	6503	SO:0001819	synonymous_variant	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40063716G>A	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.726C>T	17.37:g.40063716G>A						ACLY_ENST00000353196.1_Silent_p.F242F|ACLY_ENST00000393896.2_Silent_p.F242F|ACLY_ENST00000537919.1_Intron|ACLY_ENST00000590151.1_Silent_p.F242F	p.F242F	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN			7	856	-		Breast(137;0.000143)	242					B4DIM0|B4E3P0|Q13037|Q9BRL0	Silent	SNP	ENST00000352035.2	37	c.726C>T	CCDS11412.1																																																																																				0.582	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		4	72	0	0	0	0.029380	0	4	72				
EBNA1BP2	10969	broad.mit.edu	37	1	43630162	43630162	+	Silent	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:43630162C>T	ENST00000236051.2	-	9	1014	c.873G>A	c.(871-873)aaG>aaA	p.K291K	EBNA1BP2_ENST00000431635.2_Silent_p.K346K	NM_006824.2	NP_006815.2	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	291					ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTCCAGGTCTCTTCTACAGAA	0.448																																						ENST00000431635.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16						c.(1036-1038)aaG>aaA		EBNA1 binding protein 2							168.0	150.0	156.0					1																	43630162		2203	4300	6503	SO:0001819	synonymous_variant	10969				ribosome biogenesis	membrane fraction|nucleolus	protein binding	g.chr1:43630162C>T	U86602	CCDS478.1, CCDS53308.1	1p35-p33	2011-02-10	2001-11-28		ENSG00000117395	ENSG00000117395			15531	protein-coding gene	gene with protein product		614443	"""EBNA1-binding protein 2"""			10074103, 11438656	Standard	NM_001159936		Approved	NOBP, EBP2, P40	uc010ojx.2	Q99848	OTTHUMG00000007284	ENST00000236051.2:c.873G>A	1.37:g.43630162C>T						EBNA1BP2_ENST00000236051.2_Silent_p.K291K	p.K346K	NM_001159936.1	NP_001153408.1	Q99848	EBP2_HUMAN			10	1186	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	291					Q96A66	Silent	SNP	ENST00000236051.2	37	c.1038G>A	CCDS478.1																																																																																				0.448	EBNA1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019015.1			12	66	0	0	0	0.105934	0	12	66				
CCNE2	9134	broad.mit.edu	37	8	95902690	95902690	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr8:95902690C>T	ENST00000520509.1	-	6	658	c.406G>A	c.(406-408)Gac>Aac	p.D136N	CCNE2_ENST00000396133.3_Missense_Mutation_p.D136N|CCNE2_ENST00000308108.4_Missense_Mutation_p.D136N|CCNE2_ENST00000523476.1_5'UTR			O96020	CCNE2_HUMAN	cyclin E2	136					cell cycle checkpoint (GO:0000075)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					GGTTCCAAGTCAGAATGCAGA	0.373																																						ENST00000520509.1																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11						c.(406-408)Gac>Aac		cyclin E2							251.0	249.0	250.0					8																	95902690		2203	4300	6503	SO:0001583	missense	9134				cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding	g.chr8:95902690C>T	AF091433	CCDS6264.1	8q22.1	2005-10-18			ENSG00000175305	ENSG00000175305			1590	protein-coding gene	gene with protein product		603775				9840927, 9840943	Standard	NM_057749		Approved	CYCE2	uc003yhc.3	O96020	OTTHUMG00000164696	ENST00000520509.1:c.406G>A	8.37:g.95902690C>T	ENSP00000429089:p.Asp136Asn					CCNE2_ENST00000396133.3_Missense_Mutation_p.D136N|CCNE2_ENST00000308108.4_Missense_Mutation_p.D136N|CCNE2_ENST00000523476.1_5'UTR	p.D136N			O96020	CCNE2_HUMAN			6	658	-	Breast(36;8.75e-07)		136					O95439	Missense_Mutation	SNP	ENST00000520509.1	37	c.406G>A	CCDS6264.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.267538	0.23136	.	.	ENSG00000175305	ENST00000520509;ENST00000308108;ENST00000542725;ENST00000396133	T;T;T	0.12147	2.71;2.71;2.71	5.69	4.82	0.62117	Cyclin, N-terminal (1);Cyclin-like (2);	0.488989	0.25148	N	0.032775	T	0.10981	0.0268	L	0.38838	1.175	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.15052	0.012;0.006	T	0.18555	-1.0333	10	0.46703	T	0.11	.	7.0455	0.25042	0.0:0.7111:0.0:0.2889	.	136;136	Q8WUE3;O96020	.;CCNE2_HUMAN	N	136;136;28;136	ENSP00000429089:D136N;ENSP00000309181:D136N;ENSP00000379437:D136N	ENSP00000309181:D136N	D	-	1	0	CCNE2	95971866	0.027000	0.19231	0.999000	0.59377	0.988000	0.76386	1.484000	0.35508	1.402000	0.46780	0.591000	0.81541	GAC		0.373	CCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379808.1	NM_057749, NM_004702		45	190	0	0	0	0.124865	0	45	190				
OR51M1	390059	broad.mit.edu	37	11	5411115	5411115	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:5411115C>T	ENST00000328611.3	+	1	509	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	163					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R163R(1)		NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTCATCTTCCGGGGACCTGT	0.542																																						ENST00000328611.3																			1	Substitution - coding silent(1)	p.R163R(1)	lung(1)	NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30						c.(487-489)Cgg>Tgg		olfactory receptor, family 51, subfamily M, member 1							212.0	205.0	207.0					11																	5411115		2026	4203	6229	SO:0001583	missense	390059					integral to membrane	olfactory receptor activity	g.chr11:5411115C>T	BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"""GPCR / Class A : Olfactory receptors"""	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.487C>T	11.37:g.5411115C>T	ENSP00000333196:p.Arg163Trp					HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	p.R163W	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	509	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	163					Q6IF80	Missense_Mutation	SNP	ENST00000328611.3	37	c.487C>T	CCDS53596.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.832568	0.50845	.	.	ENSG00000184698	ENST00000328611	T	0.37235	1.21	4.71	-1.55	0.08558	GPCR, rhodopsin-like superfamily (1);	0.262738	0.19470	U	0.113477	T	0.59115	0.2170	M	0.88181	2.935	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.51748	-0.8666	10	0.87932	D	0	.	9.1754	0.37109	0.4807:0.4432:0.0:0.0761	.	152	Q9H341	O51M1_HUMAN	W	163	ENSP00000333196:R163W	ENSP00000333196:R163W	R	+	1	2	OR51M1	5367691	0.000000	0.05858	0.357000	0.25798	0.772000	0.43724	-2.060000	0.01392	-0.081000	0.12662	0.655000	0.94253	CGG		0.542	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756		42	180	0	0	0	0.131918	0	42	180				
MALAT1	378938	broad.mit.edu	37	11	65270662	65270662	+	lincRNA	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:65270662G>C	ENST00000534336.1	+	0	5430					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		GCTGTTAACAGATAAGTTTAA	0.408																																						ENST00000534336.1																			0																				21.0	20.0	20.0					11																	65270662		874	1987	2861			378938							g.chr11:65270662G>C	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65270662G>C								NR_002819.2						0	5430	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.408	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		5	12	0	0	0	0.021553	0	5	12				
PRTFDC1	56952	broad.mit.edu	37	10	25197546	25197546	+	Intron	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr10:25197546C>G	ENST00000320152.6	-	3	368				RN7SKP241_ENST00000464584.2_RNA|PRTFDC1_ENST00000376376.3_Missense_Mutation_p.M136I|PRTFDC1_ENST00000376378.1_Intron	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1						nucleoside metabolic process (GO:0009116)	cytosol (GO:0005829)	magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						cacagctactcatataccctt	0.512																																						ENST00000376376.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						c.(406-408)atG>atC		phosphoribosyl transferase domain containing 1							70.0	63.0	65.0					10																	25197546		876	1991	2867	SO:0001627	intron_variant	56952				adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity	g.chr10:25197546C>G	AF226056	CCDS7145.1, CCDS60506.1	10p12.31	2003-11-10			ENSG00000099256	ENSG00000099256			23333	protein-coding gene	gene with protein product		610751					Standard	XM_005252537		Approved	HHGP	uc001ise.1	Q9NRG1	OTTHUMG00000017829	ENST00000320152.6:c.339+28566G>C	10.37:g.25197546C>G						PRTFDC1_ENST00000320152.6_Intron|PRTFDC1_ENST00000376378.1_Intron|RN7SKP241_ENST00000464584.2_RNA	p.M136I			Q9NRG1	PRDC1_HUMAN			4	424	-			0					B7Z1Z3|Q53HA7|Q59EL9|Q5VV18|Q5VV20	Missense_Mutation	SNP	ENST00000320152.6	37	c.408G>C	CCDS7145.1	.	.	.	.	.	.	.	.	.	.	C	0.455	-0.892107	0.02491	.	.	ENSG00000099256	ENST00000376376	D	0.99677	-6.37	0.895	-1.79	0.07932	.	.	.	.	.	D	0.98264	0.9425	.	.	.	0.09310	N	1	.	.	.	.	.	.	D	0.94606	0.7800	6	0.33141	T	0.24	.	3.0345	0.06117	0.3056:0.4646:0.0:0.2299	.	.	.	.	I	136	ENSP00000365556:M136I	ENSP00000365556:M136I	M	-	3	0	PRTFDC1	25237552	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.678000	0.05209	-2.572000	0.00467	-1.786000	0.00637	ATG		0.512	PRTFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047243.2	NM_020200		12	22	0	0	0	0.080935	0	12	22				
TPM1	7168	broad.mit.edu	37	15	63336307	63336307	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr15:63336307G>C	ENST00000403994.3	+	2	276	c.196G>C	c.(196-198)Gat>Cat	p.D66H	TPM1_ENST00000267996.7_Intron|TPM1_ENST00000357980.4_Missense_Mutation_p.D108H|TPM1_ENST00000559397.1_Intron|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000288398.6_Missense_Mutation_p.D66H|RP11-244F12.3_ENST00000561241.1_RNA|TPM1_ENST00000358278.3_Missense_Mutation_p.D66H|TPM1_ENST00000559556.1_Missense_Mutation_p.D66H	NM_001018005.1	NP_001018005.1	P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	66					cardiac muscle contraction (GO:0060048)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|negative regulation of cell migration (GO:0030336)|positive regulation of ATPase activity (GO:0032781)|positive regulation of cell adhesion (GO:0045785)|positive regulation of heart rate by epinephrine (GO:0003065)|positive regulation of stress fiber assembly (GO:0051496)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|ruffle organization (GO:0031529)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|wound healing (GO:0042060)	bleb (GO:0032059)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|muscle thin filament tropomyosin (GO:0005862)|ruffle membrane (GO:0032587)|sarcomere (GO:0030017)|stress fiber (GO:0001725)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(1)|large_intestine(1)|lung(2)	4						GGCTCTCAAAGATGCCCAGGA	0.567																																						ENST00000357980.4																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(322-324)Gat>Cat		tropomyosin 1 (alpha)							63.0	64.0	63.0					15																	63336307		2203	4300	6503	SO:0001583	missense	7168				cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle	g.chr15:63336307G>C	AB209041	CCDS10181.1, CCDS32262.1, CCDS32263.1, CCDS32264.1, CCDS45273.1, CCDS58368.1, CCDS58369.1	15q22.1	2014-09-17			ENSG00000140416	ENSG00000140416		"""Tropomyosins"""	12010	protein-coding gene	gene with protein product		191010	"""chromosome 15 open reading frame 13"", ""cardiomyopathy, hypertrophic 3"""	C15orf13, CMH3		10343096, 8205619	Standard	XM_005254637		Approved		uc002all.3	P09493	OTTHUMG00000132803	ENST00000403994.3:c.196G>C	15.37:g.63336307G>C	ENSP00000385107:p.Asp66His					TPM1_ENST00000403994.3_Missense_Mutation_p.D66H|TPM1_ENST00000358278.3_Missense_Mutation_p.D66H|TPM1_ENST00000559397.1_Intron|TPM1_ENST00000288398.6_Missense_Mutation_p.D66H|TPM1_ENST00000267996.7_Intron|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000559556.1_Missense_Mutation_p.D66H	p.D108H			P09493	TPM1_HUMAN			3	401	+			66					B7Z5T7|D9YZV2|D9YZV3|D9YZV8|P09494|P10469|Q6DV89|Q6DV90|Q7Z6L8|Q86W64|Q96IK2|Q9UCI1|Q9UCI2|Q9UCY9|Q9Y427	Missense_Mutation	SNP	ENST00000403994.3	37	c.322G>C	CCDS45273.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.540751	0.65085	.	.	ENSG00000140416	ENST00000288398;ENST00000358278;ENST00000403994;ENST00000357980	D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.36	5.73	5.73	0.89815	.	0.097175	0.36374	N	0.002626	D	0.98182	0.9399	M	0.76328	2.33	0.80722	D	1	B;P;B;B;P;B	0.46327	0.002;0.809;0.298;0.003;0.876;0.002	B;P;P;B;P;B	0.61003	0.051;0.776;0.784;0.08;0.882;0.051	D	0.98776	1.0730	10	0.72032	D	0.01	-11.3126	18.8853	0.92375	0.0:0.0:1.0:0.0	.	66;108;66;66;66;66	D9YZV4;Q6ZN40;D9YZV5;D9YZV3;D9YZV2;P09493	.;.;.;.;.;TPM1_HUMAN	H	66;66;66;108	ENSP00000288398:D66H;ENSP00000351022:D66H;ENSP00000385107:D66H;ENSP00000350667:D108H	ENSP00000288398:D66H	D	+	1	0	TPM1	61123360	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.435000	0.97529	2.712000	0.92718	0.491000	0.48974	GAT		0.567	TPM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000417083.2	NM_001018004		10	38	0	0	0	0.069234	0	10	38				
EPHA2	1969	broad.mit.edu	37	1	16475129	16475130	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:16475129_16475130delCA	ENST00000358432.5	-	3	720_721	c.566_567delTG	c.(565-567)gtgfs	p.V189fs	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	189	Cys-rich.|Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.|Mediates interaction with CLDN4.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	AGAGCAGCGCCACACAGGCACC	0.644																																						ENST00000358432.5																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(565-567)gfs		EPH receptor A2	Dasatinib(DB01254)																																			SO:0001589	frameshift_variant	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16475129_16475130delCA	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.566_567delTG	1.37:g.16475133_16475134delCA	ENSP00000351209:p.Val189fs					EPHA2_ENST00000461614.1_5'UTR	p.V189fs	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	3	720_721	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	189			Cys-rich.		B5A968|Q8N3Z2	Frame_Shift_Del	DEL	ENST00000358432.5	37	c.566_567delTG	CCDS169.1																																																																																				0.644	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		28	56						28	56	---	---	---	---
IRF2BP2	359948	broad.mit.edu	37	1	234743542	234743543	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:234743542_234743543insCC	ENST00000366609.3	-	2	1134_1135	c.1104_1105insGG	c.(1102-1107)gggcccfs	p.P369fs	IRF2BP2_ENST00000491430.1_5'UTR|RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000366610.3_Frame_Shift_Ins_p.P353fs	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	369					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			ATCTTAGGGGGCCCGACTTCAC	0.52																																						ENST00000366609.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1102-1107)ggccccfs		interferon regulatory factor 2 binding protein 2																																				SO:0001589	frameshift_variant	359948				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr1:234743542_234743543insCC	AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.1103_1104dupGG	1.37:g.234743543_234743544dupCC	ENSP00000355568:p.Pro369fs					RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000366610.3_Frame_Shift_Ins_p.P353fs|IRF2BP2_ENST00000491430.1_5'UTR	p.P369fs	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)		2	1134_1135	-	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	369					B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	Frame_Shift_Ins	INS	ENST00000366609.3	37	c.1104_1105insGG	CCDS1602.1																																																																																				0.520	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092705.1	NM_182972		11	59						11	59	---	---	---	---
PLA2R1	22925	broad.mit.edu	37	2	160826691	160826692	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:160826691_160826692insC	ENST00000283243.7	-	18	2833_2834	c.2627_2628insG	c.(2626-2628)ggafs	p.G876fs	PLA2R1_ENST00000392771.1_Frame_Shift_Ins_p.G876fs	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	876	C-type lectin 5. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CTTCTTGAAGTCCAATCCACCA	0.322																																						ENST00000283243.7																		PLA2R1/RBMS1(2)	0				central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(2626-2628)gctfs		phospholipase A2 receptor 1, 180kDa																																				SO:0001589	frameshift_variant	22925				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160826691_160826692insC	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.2628dupG	2.37:g.160826693_160826693dupC	ENSP00000283243:p.Gly876fs					PLA2R1_ENST00000392771.1_Frame_Shift_Ins_p.A876fs	p.A876fs	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN			18	2833_2834	-			876			C-type lectin 5.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Frame_Shift_Ins	INS	ENST00000283243.7	37	c.2627_2628insG	CCDS33309.1																																																																																				0.322	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			10	55						10	55	---	---	---	---
CASP8	841	broad.mit.edu	37	2	202131502	202131505	+	Frame_Shift_Del	DEL	TTTC	TTTC	-			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:202131502_202131505delTTTC	ENST00000432109.2	+	3	482_485	c.293_296delTTTC	c.(292-297)atttctfs	p.IS98fs	CASP8_ENST00000323492.7_Frame_Shift_Del_p.IS98fs|CASP8_ENST00000358485.4_Frame_Shift_Del_p.IS157fs|CASP8_ENST00000392259.2_Frame_Shift_Del_p.IS98fs|CASP8_ENST00000392266.3_Frame_Shift_Del_p.IS98fs|CASP8_ENST00000392258.3_Frame_Shift_Del_p.IS98fs|CASP8_ENST00000264275.5_Frame_Shift_Del_p.IS98fs|CASP8_ENST00000264274.9_Frame_Shift_Del_p.IS98fs	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	98					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AGGGCTCAAATTTCTGCCTACAGG	0.495										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			0				breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.(469-474)atfs		caspase 8, apoptosis-related cysteine peptidase																																				SO:0001589	frameshift_variant	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202131502_202131505delTTTC	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.293_296delTTTC	2.37:g.202131502_202131505delTTTC	ENSP00000412523:p.Ile98fs	HNSCC(4;0.00038)				CASP8_ENST00000432109.2_Frame_Shift_Del_p.IS98fs|CASP8_ENST00000392258.3_Frame_Shift_Del_p.IS98fs|CASP8_ENST00000392259.2_Frame_Shift_Del_p.IS98fs|CASP8_ENST00000392266.3_Frame_Shift_Del_p.IS98fs|CASP8_ENST00000323492.7_Frame_Shift_Del_p.IS98fs|CASP8_ENST00000264274.9_Frame_Shift_Del_p.IS98fs|CASP8_ENST00000264275.5_Frame_Shift_Del_p.IS98fs	p.IS157fs	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			2	666_669	+			98			DED 2.		O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Frame_Shift_Del	DEL	ENST00000432109.2	37	c.470_473delTTTC	CCDS2342.1																																																																																				0.495	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		7	29						7	29	---	---	---	---
ANXA2R	389289	broad.mit.edu	37	5	43040059	43040060	+	Frame_Shift_Ins	INS	-	-	GAAC			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:43040059_43040060insGAAC	ENST00000314890.3	-	2	1508_1509	c.89_90insGTTC	c.(88-90)tcafs	p.-30fs	AC025171.1_ENST00000505541.1_RNA|AC025171.1_ENST00000451894.2_RNA	NM_001014279.2	NP_001014301.1	Q3ZCQ2	AX2R_HUMAN	annexin A2 receptor																		CACGATCTTCTGAACTCACAAT	0.569											OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000314890.3																			0											c.(88-90)tgafs		annexin A2 receptor																																				SO:0001589	frameshift_variant	389289						receptor activity	g.chr5:43040059_43040060insGAAC	BC067873	CCDS34153.1	5p12	2013-08-14	2012-03-09	2012-03-09	ENSG00000177721	ENSG00000177721			33463	protein-coding gene	gene with protein product		611296	"""chromosome 5 open reading frame 39"""	C5orf39		16895901, 18636554	Standard	NM_001014279		Approved	AXIIR	uc003jnf.3	Q3ZCQ2	OTTHUMG00000162232	ENST00000314890.3:c.86_89dupGTTC	5.37:g.43040060_43040063dupGAAC	ENSP00000315915:p.Ser30fs		OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	913		p.*30fs	NM_001014279.2	NP_001014301.1	Q3ZCQ2	AX2R_HUMAN			2	1508_1509	-			30					Q8NHX5	Frame_Shift_Ins	INS	ENST00000314890.3	37	c.89_90insGTTC	CCDS34153.1																																																																																				0.569	ANXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368030.1	NM_001014279		20	68						20	68	---	---	---	---
ABCC10	89845	broad.mit.edu	37	6	43400148	43400148	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr6:43400148delG	ENST00000372530.4	+	3	645	c.430delG	c.(430-432)gctfs	p.A144fs	ABCC10_ENST00000244533.3_Frame_Shift_Del_p.A101fs|ABCC10_ENST00000443426.2_Intron	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	144					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	CTTGCTGCCAGCTCCAGCCCT	0.652																																						ENST00000244533.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(301-303)ctfs		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							59.0	57.0	57.0					6																	43400148		2203	4300	6503	SO:0001589	frameshift_variant	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43400148delG	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.430delG	6.37:g.43400148delG	ENSP00000361608:p.Ala144fs					ABCC10_ENST00000372530.4_Frame_Shift_Del_p.A144fs|ABCC10_ENST00000443426.2_Intron	p.A101fs	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		1	660	+	all_lung(25;0.00536)		144					Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Frame_Shift_Del	DEL	ENST00000372530.4	37	c.301delG	CCDS56430.1																																																																																				0.652	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		20	67						20	67	---	---	---	---
DST	667	broad.mit.edu	37	6	56483703	56483704	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr6:56483703_56483704insG	ENST00000370765.6	-	23	5235_5236	c.5128_5129insC	c.(5128-5130)caafs	p.Q1710fs	DST_ENST00000446842.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	3780					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATTTAACTCTTGCACCTGAGCT	0.416																																						ENST00000370765.6																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(5128-5130)agafs		dystonin																																				SO:0001589	frameshift_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56483703_56483704insG	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.5129dupC	6.37:g.56483704_56483704dupG	ENSP00000359801:p.Gln1710fs					DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370754.5_Intron	p.R1710fs	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		23	5235_5236	-	Lung NSC(77;0.103)		1073					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Frame_Shift_Ins	INS	ENST00000370765.6	37	c.5128_5129insC	CCDS4959.1																																																																																				0.416	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		43	169						43	169	---	---	---	---
DLL1	28514	broad.mit.edu	37	6	170592567	170592569	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr6:170592567_170592569delCTT	ENST00000366756.3	-	9	2131_2133	c.1798_1800delAAG	c.(1798-1800)aagdel	p.K600del		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	600					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CTGAGATGTCCTTCTCACGCTGG	0.631																																						ENST00000366756.3																			0				NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33						c.(1798-1800)del		delta-like 1 (Drosophila)																																				SO:0001651	inframe_deletion	28514				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	g.chr6:170592567_170592569delCTT	AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"""delta (Drosophila)-like 1"""				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.1798_1800delAAG	6.37:g.170592567_170592569delCTT	ENSP00000355718:p.Lys600del						p.K600del	NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)	9	2131_2133	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	600					B2RAK7|B5M0B3|Q9NU41|Q9UJV2	In_Frame_Del	DEL	ENST00000366756.3	37	c.1798_1800delAAG	CCDS5313.1																																																																																				0.631	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1			17	104						17	104	---	---	---	---
RAPGEF5	9771	broad.mit.edu	37	7	22259497	22259499	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:22259497_22259499delCTC	ENST00000405243.1	-	9	1065_1067	c.982_984delGAG	c.(982-984)gagdel	p.E328del	RAPGEF5_ENST00000344041.6_In_Frame_Del_p.E175del|RAPGEF5_ENST00000475788.1_5'UTR			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	0					nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)	GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						GTTCAGACTTCTCCTGTTCTTTT	0.419																																						ENST00000344041.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						c.(523-525)del		Rap guanine nucleotide exchange factor (GEF) 5																																				SO:0001651	inframe_deletion	9771				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity	g.chr7:22259497_22259499delCTC	D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237			16862	protein-coding gene	gene with protein product	"""M-Ras-regulated GEF"""	609527				9039502, 10486569	Standard	NM_012294		Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000405243.1:c.982_984delGAG	7.37:g.22259497_22259499delCTC	ENSP00000384870:p.Glu328del					RAPGEF5_ENST00000475788.1_5'UTR|RAPGEF5_ENST00000405243.1_In_Frame_Del_p.E328del	p.E175del	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN			9	835_837	-			0			N-terminal Ras-GEF.		A4D140|Q8IXU5	In_Frame_Del	DEL	ENST00000405243.1	37	c.523_525delGAG																																																																																					0.419	RAPGEF5-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000326591.1	NM_012294		9	58						9	58	---	---	---	---
BMP1	649	broad.mit.edu	37	8	22058705	22058706	+	Intron	INS	-	-	C	rs143154292		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr8:22058705_22058706insC	ENST00000306385.5	+	16	2777				BMP1_ENST00000306349.8_Frame_Shift_Ins_p.T728fs|BMP1_ENST00000354870.5_Intron	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		AAGAAACCGGACCCCCCAGTGA	0.614																																						ENST00000306349.8																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(2182-2184)cccfs		bone morphogenetic protein 1			,	0,4256		0,0,2128					,	3.0	1.0			101	2,8232		0,2,4115	no	intron,frameshift	BMP1	NM_006129.4,NM_001199.3	,	0,2,6243	A1A1,A1R,RR		0.0243,0.0,0.016	,	,		2,12488				SO:0001627	intron_variant	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22058705_22058706insC		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2108-610->C	8.37:g.22058711_22058711dupC						BMP1_ENST00000306385.5_Intron|BMP1_ENST00000354870.5_Intron	p.P728fs	NM_001199.3	NP_001190.1	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	16	2336_2337	+			0			EGF-like 2; calcium-binding (Potential).		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Frame_Shift_Ins	INS	ENST00000306385.5	37	c.2182_2183insC	CCDS6026.1																																																																																				0.614	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		43	210						43	210	---	---	---	---
FAM74A7	100996582	broad.mit.edu	37	9	40715911	40715944	+	lincRNA	DEL	GAGAAGACGTGGAAAGAGCTCAGAGGCTGTCCCA	GAGAAGACGTGGAAAGAGCTCAGAGGCTGTCCCA	-	rs199625563|rs370250075|rs62565542|rs62565543|rs535156143|rs374953827|rs112785686|rs557064091|rs62566171|rs62566172	byFrequency	TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr9:40715911_40715944delGAGAAGACGTGGAAAGAGCTCAGAGGCTGTCCCA	ENST00000432614.1	-	0	0				FAM74A3_ENST00000604146.1_lincRNA																							GGCTGTCCCGGAGAAGACGTGGAAAGAGCTCAGAGGCTGTCCCAGAGAAGACGT	0.568																																						ENST00000604146.1																			0				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10												490,3580		46,398,1591						-0.2	0.0			18	1765,6001		192,1381,2310	no	intergenic				238,1779,3901	A1A1,A1R,RR		22.7273,12.0393,19.052				2255,9581						728495							g.chr9:40715911_40715944delGAGAAGACGTGGAAAGAGCTCAGAGGCTGTCCCA																													9.37:g.40715911_40715944delGAGAAGACGTGGAAAGAGCTCAGAGGCTGTCCCA								NR_026801.1					GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	0	250_283	+									RNA	DEL	ENST00000432614.1	37																																																																																						0.568	RP11-395E19.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000143688.1			4	6						4	6	---	---	---	---
C10orf120	399814	broad.mit.edu	37	10	124457552	124457553	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr10:124457552_124457553insT	ENST00000329446.4	-	3	735_736	c.704_705insA	c.(703-705)aacfs	p.N235fs		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	235										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GTCTTTTTGTGTTTTTTCCCTC	0.371																																						ENST00000329446.4																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21						c.(703-705)aacfs		chromosome 10 open reading frame 120																																				SO:0001589	frameshift_variant	399814							g.chr10:124457552_124457553insT		CCDS31302.1	10q26.13	2012-06-12			ENSG00000183559	ENSG00000183559			25707	protein-coding gene	gene with protein product							Standard	NM_001010912		Approved	bA318C4.1	uc001lgn.3	Q5SQS8	OTTHUMG00000019187	ENST00000329446.4:c.705dupA	10.37:g.124457558_124457558dupT	ENSP00000331012:p.Asn235fs						p.N235fs	NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN			3	735_736	-		all_neural(114;0.169)|Glioma(114;0.222)	235					B2RU17	Frame_Shift_Ins	INS	ENST00000329446.4	37	c.704_705insA	CCDS31302.1																																																																																				0.371	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050803.1	NM_001010912		10	39						10	39	---	---	---	---
C11orf80	79703	broad.mit.edu	37	11	66568153	66568154	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:66568153_66568154delCA	ENST00000360962.4	+	7	766_767	c.759_760delCA	c.(757-762)tccacafs	p.T254fs	C11orf80_ENST00000346672.4_Frame_Shift_Del_p.T99fs|C11orf80_ENST00000540737.1_Frame_Shift_Del_p.T88fs|C11orf80_ENST00000525449.2_Frame_Shift_Del_p.T99fs|C11orf80_ENST00000527634.1_Frame_Shift_Del_p.T35fs|C11orf80_ENST00000532565.2_Frame_Shift_Del_p.T35fs|C11orf80_ENST00000527368.1_3'UTR	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	254										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						GAATCCTCTCCACAGAGATCTT	0.356																																						ENST00000360962.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						c.(757-762)tccafs		chromosome 11 open reading frame 80																																				SO:0001589	frameshift_variant	79703							g.chr11:66568153_66568154delCA			11q13.2	2012-05-30			ENSG00000173715	ENSG00000173715			26197	protein-coding gene	gene with protein product						18160775	Standard	NM_024650		Approved	FLJ22531	uc021qmd.1	Q8N6T0	OTTHUMG00000167164	ENST00000360962.4:c.759_760delCA	11.37:g.66568155_66568156delCA	ENSP00000354227:p.Thr254fs					C11orf80_ENST00000540737.1_Frame_Shift_Del_p.ST87fs|C11orf80_ENST00000527368.1_3'UTR|C11orf80_ENST00000532565.2_Frame_Shift_Del_p.ST34fs|C11orf80_ENST00000525449.2_Frame_Shift_Del_p.ST98fs|C11orf80_ENST00000527634.1_Frame_Shift_Del_p.ST34fs|C11orf80_ENST00000346672.4_Frame_Shift_Del_p.ST98fs	p.ST253fs	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN			7	766_767	+			98					Q9H677	Frame_Shift_Del	DEL	ENST00000360962.4	37	c.759_760delCA	CCDS53664.1																																																																																				0.356	C11orf80-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_024650		5	8						5	8	---	---	---	---
TECTA	7007	broad.mit.edu	37	11	120979983	120979983	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:120979983delC	ENST00000392793.1	+	4	533	c.262delC	c.(262-264)cccfs	p.P88fs	TECTA_ENST00000264037.2_Frame_Shift_Del_p.P88fs			O75443	TECTA_HUMAN	tectorin alpha	88					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AGAATCCTTTCCCCTGACAGA	0.488																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(262-264)ccfs		tectorin alpha							94.0	85.0	88.0					11																	120979983		2203	4299	6502	SO:0001589	frameshift_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120979983delC	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.262delC	11.37:g.120979983delC	ENSP00000376543:p.Pro88fs					TECTA_ENST00000264037.2_Frame_Shift_Del_p.P88fs	p.P88fs			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	4	533	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	88						Frame_Shift_Del	DEL	ENST00000392793.1	37	c.262delC	CCDS8434.1																																																																																				0.488	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		12	25						12	25	---	---	---	---
RB1	5925	broad.mit.edu	37	13	48881435	48881435	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr13:48881435delG	ENST00000267163.4	+	2	295	c.157delG	c.(157-159)gaafs	p.E54fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	54					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(3)|p.E53K(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TGAAGAAACAGAAGAACCTGA	0.328		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		19	Whole gene deletion(15)|Unknown(3)|Substitution - Missense(1)	p.0?(15)|p.?(3)|p.E53K(1)	bone(10)|breast(3)|haematopoietic_and_lymphoid_tissue(2)|eye(1)|soft_tissue(1)|endometrium(1)|stomach(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(157-159)aafs		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						121.0	120.0	121.0					13																	48881435		2203	4299	6502	SO:0001589	frameshift_variant	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48881435delG	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.157delG	13.37:g.48881435delG	ENSP00000267163:p.Glu54fs	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.E54fs	NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	2	295	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	54					A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	ENST00000267163.4	37	c.157delG	CCDS31973.1																																																																																				0.328	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			11	64						11	64	---	---	---	---
CHD8	57680	broad.mit.edu	37	14	21859144	21859144	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr14:21859144delC	ENST00000557364.1	-	37	7407	c.7144delG	c.(7144-7146)gaafs	p.E2382fs	SNORD9_ENST00000362566.1_RNA|CHD8_ENST00000430710.3_Frame_Shift_Del_p.E2103fs|CHD8_ENST00000399982.2_Frame_Shift_Del_p.E2382fs			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2382					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TGTACTGGTTCCATTCCCAAA	0.368																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(7144-7146)aafs		chromodomain helicase DNA binding protein 8							116.0	105.0	109.0					14																	21859144		1846	4105	5951	SO:0001589	frameshift_variant	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21859144delC	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.7144delG	14.37:g.21859144delC	ENSP00000451601:p.Glu2382fs					CHD8_ENST00000557364.1_Frame_Shift_Del_p.E2382fs|CHD8_ENST00000430710.3_Frame_Shift_Del_p.E2103fs	p.E2382fs	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	36	7208	-	all_cancers(95;0.00121)		2382					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Frame_Shift_Del	DEL	ENST00000557364.1	37	c.7144delG	CCDS53885.1																																																																																				0.368	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		2	4						2	4	---	---	---	---
OR4N4	283694	broad.mit.edu	37	15	22382920	22382921	+	Frame_Shift_Ins	INS	-	-	T	rs376203024		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr15:22382920_22382921insT	ENST00000328795.4	+	1	539_540	c.448_449insT	c.(448-450)cttfs	p.L150fs	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GGCTCTGTGGCTTGGGGGTTTT	0.535																																						ENST00000328795.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40						c.(448-450)tggfs		olfactory receptor, family 4, subfamily N, member 4																																				SO:0001589	frameshift_variant	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22382920_22382921insT	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.450dupT	15.37:g.22382922_22382922dupT	ENSP00000332500:p.Leu150fs					RP11-69H14.6_ENST00000558896.1_RNA	p.W150fs	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	539_540	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	150					Q6IEY3|Q6IF56	Frame_Shift_Ins	INS	ENST00000328795.4	37	c.448_449insT	CCDS32173.1																																																																																				0.535	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			27	137						27	137	---	---	---	---
SALL1	6299	broad.mit.edu	37	16	51175655	51175656	+	In_Frame_Ins	INS	-	-	GCTGCT	rs113614842|rs199760974|rs372299573	byFrequency	TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr16:51175655_51175656insGCTGCT	ENST00000251020.4	-	2	510_511	c.477_478insAGCAGC	c.(475-480)agcggc>agcAGCAGCggc	p.158_159insSS	SALL1_ENST00000440970.1_In_Frame_Ins_p.61_62insSS|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	158	Poly-Ser.		S -> G (in dbSNP:rs13336129). {ECO:0000269|PubMed:9973281}.		adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ccgccgccgccgctgctgctgc	0.629																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(184-189)aggcgg>agAGCAGCgcgg		spalt-like transcription factor 1																																				SO:0001652	inframe_insertion	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175655_51175656insGCTGCT	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.472_477dupAGCAGC	16.37:g.51175656_51175661dupGCTGCT	ENSP00000251020:p.Ser157_Ser158dup					SALL1_ENST00000251020.4_In_Frame_Ins_p.159_160RR>RAAR|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	p.62_63RR>RAAR	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	617_618	-		all_cancers(37;0.0322)	159					Q99881|Q9NSC3|Q9P1R0	In_Frame_Ins	INS	ENST00000251020.4	37	c.186_187insAGCAGC	CCDS10747.1																																																																																				0.629	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		7	32						7	32	---	---	---	---
G6PC3	92579	broad.mit.edu	37	17	42153269	42153270	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr17:42153269_42153270insG	ENST00000269097.4	+	6	1130_1131	c.899_900insG	c.(898-903)ctgggcfs	p.LG300fs		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	300					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphatase activity (GO:0004346)			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CTGGACTGGCTGGGCCACCCCC	0.619																																						ENST00000269097.4																			0				endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11						c.(898-900)cggfs		glucose 6 phosphatase, catalytic, 3																																				SO:0001589	frameshift_variant	92579				gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity	g.chr17:42153269_42153270insG	BC021574	CCDS11476.1	17q21.31	2014-09-17				ENSG00000141349			24861	protein-coding gene	gene with protein product		611045				12370122, 12965222	Standard	NM_138387		Approved	UGRP	uc002iex.3	Q9BUM1		ENST00000269097.4:c.902dupG	17.37:g.42153272_42153272dupG	ENSP00000269097:p.Leu300fs						p.R300fs	NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	6	1130_1131	+		Breast(137;0.00637)|Prostate(33;0.0313)	300					Q8WU15	Frame_Shift_Ins	INS	ENST00000269097.4	37	c.899_900insG	CCDS11476.1																																																																																				0.619	G6PC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457675.1	NM_138387		9	125						9	125	---	---	---	---
AP003900.6	0	broad.mit.edu	37	21	11180762	11180762	+	lincRNA	DEL	T	T	-	rs146742149		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr21:11180762delT	ENST00000603265.1	+	0	231																											aACTAACTTCTTTTTTTTTTT	0.348																																						ENST00000603265.1																			0																																																			0							g.chr21:11180762delT																													21.37:g.11180762delT														0	231	+									RNA	DEL	ENST00000603265.1	37																																																																																						0.348	AP003900.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469752.1			4	7						4	7	---	---	---	---
SREBF2	6721	broad.mit.edu	37	22	42262949	42262951	+	In_Frame_Del	DEL	GCA	GCA	-	rs143615881		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr22:42262949_42262951delGCA	ENST00000361204.4	+	2	369_371	c.203_205delGCA	c.(202-207)ggcagc>ggc	p.S74del		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	74	Gly/Pro/Ser-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ggcagcagtggcagcagcagcag	0.567																																						ENST00000361204.4																			0				NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(202-207)ggc>g		sterol regulatory element binding transcription factor 2																																				SO:0001651	inframe_deletion	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42262949_42262951delGCA	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.203_205delGCA	22.37:g.42262958_42262960delGCA	ENSP00000354476:p.Ser74del						p.GS68del	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN			2	369_371	+			68			Gly/Pro/Ser-rich.		Q05BD5|Q6GTH7|Q86V36|Q9UH04	In_Frame_Del	DEL	ENST00000361204.4	37	c.203_205delGCA	CCDS14023.1																																																																																				0.567	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		7	79						7	79	---	---	---	---
