#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
CCNB1	891	broad.mit.edu	37	5	68467126	68467126	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr5:68467126A>C	ENST00000256442.5	+	4	646	c.393A>C	c.(391-393)gaA>gaC	p.E131D		NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	131					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to iron(III) ion (GO:0071283)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle checkpoint (GO:0071174)|mitotic spindle stabilization (GO:0043148)|negative regulation of gene expression (GO:0010629)|negative regulation of protein phosphorylation (GO:0001933)|oocyte maturation (GO:0001556)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of chromosome condensation (GO:0060623)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to DDT (GO:0046680)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|spermatogenesis (GO:0007283)|tissue regeneration (GO:0042246)|ventricular cardiac muscle cell development (GO:0055015)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase activity (GO:0016301)|patched binding (GO:0005113)|protein kinase binding (GO:0019901)			large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		GCCCAATGGAAACATCTGGAT	0.423																																						ENST00000256442.5																			0				large_intestine(2)|lung(5)|skin(1)	8						c.(391-393)gaA>gaC		cyclin B1							123.0	121.0	121.0					5																	68467126		2203	4300	6503	SO:0001583	missense	891				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole		g.chr5:68467126A>C	U22364	CCDS3997.1	5q12	2008-07-18			ENSG00000134057	ENSG00000134057			1579	protein-coding gene	gene with protein product	"""G2/mitotic-specific cyclin B1"""	123836		CCNB		1386342	Standard	NM_031966		Approved		uc003jvm.3	P14635	OTTHUMG00000097817	ENST00000256442.5:c.393A>C	5.37:g.68467126A>C	ENSP00000256442:p.Glu131Asp						p.E131D	NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)	4	646	+		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)	131					A8K066|Q5TZP9	Missense_Mutation	SNP	ENST00000256442.5	37	c.393A>C	CCDS3997.1	.	.	.	.	.	.	.	.	.	.	A	10.23	1.294116	0.23564	.	.	ENSG00000134057	ENST00000256442;ENST00000506572;ENST00000508407;ENST00000505500	T;T;T;T	0.14022	2.66;2.54;2.54;2.54	5.88	2.25	0.28309	.	0.445539	0.24762	N	0.035807	T	0.13543	0.0328	L	0.41356	1.27	0.49687	D	0.999818	P;B;B	0.50617	0.937;0.27;0.022	P;B;B	0.49708	0.62;0.147;0.019	T	0.17018	-1.0383	10	0.11794	T	0.64	.	8.3932	0.32542	0.6073:0.0:0.3927:0.0	.	131;131;131	E9PC90;Q5TZP9;P14635	.;.;CCNB1_HUMAN	D	131	ENSP00000256442:E131D;ENSP00000423387:E131D;ENSP00000426092:E131D;ENSP00000424588:E131D	ENSP00000256442:E131D	E	+	3	2	CCNB1	68502882	0.997000	0.39634	1.000000	0.80357	0.977000	0.68977	0.546000	0.23284	0.158000	0.19367	0.482000	0.46254	GAA		0.423	CCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215084.1	NM_031966		3	46	0	0	0	0.115264	0	3	46				
MYO1F	4542	broad.mit.edu	37	19	8618065	8618065	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr19:8618065G>A	ENST00000338257.8	-	6	729	c.462C>T	c.(460-462)ttC>ttT	p.F154F		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	154	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TGGCGTTGCCGAAGGCCTCGA	0.577																																						ENST00000338257.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						c.(460-462)ttC>ttT		myosin IF							138.0	143.0	141.0					19																	8618065		2201	4300	6501	SO:0001819	synonymous_variant	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8618065G>A	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.462C>T	19.37:g.8618065G>A							p.F154F	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN			6	729	-			154			Myosin head-like.		Q8WWN7	Silent	SNP	ENST00000338257.8	37	c.462C>T	CCDS42494.1																																																																																				0.577	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			8	67	0	0	0	0.038147	0	8	67				
ZFHX4	79776	broad.mit.edu	37	8	77764068	77764068	+	Silent	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr8:77764068C>T	ENST00000521891.2	+	10	5359	c.4911C>T	c.(4909-4911)agC>agT	p.S1637S	ZFHX4_ENST00000518282.1_Silent_p.S1611S|ZFHX4_ENST00000050961.6_Silent_p.S1592S|ZFHX4_ENST00000455469.2_Silent_p.S1592S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1592					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GTGGGCACAGCATTGCAGCAA	0.488										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(4909-4911)agC>agT		zinc finger homeobox 4							58.0	58.0	58.0					8																	77764068		1956	4143	6099	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77764068C>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4911C>T	8.37:g.77764068C>T		HNSCC(33;0.089)				ZFHX4_ENST00000455469.2_Silent_p.S1592S|ZFHX4_ENST00000518282.1_Silent_p.S1611S|ZFHX4_ENST00000050961.6_Silent_p.S1592S	p.S1637S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	5359	+			1592					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.4911C>T	CCDS47878.2																																																																																				0.488	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		4	45	0	0	0	0.150653	0	4	45				
DGKK	139189	broad.mit.edu	37	X	50134545	50134545	+	RNA	SNP	G	G	A	rs529907071		TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chrX:50134545G>A	ENST00000376025.2	-	0	1793							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GATCATTGCCGGTTCCAAGTG	0.512													g|||	2	0.000529801	0.0	0.0	3775	,	,		14050	0.0		0.0	False		,,,				2504	0.002					ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa							108.0	100.0	103.0					X																	50134545		2036	4157	6193			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50134545G>A	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50134545G>A										Q5KSL6	DGKK_HUMAN			0	1793	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.512	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		7	45	0	0	0	0.029380	0	7	45				
ONECUT2	9480	broad.mit.edu	37	18	55143819	55143819	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr18:55143819C>T	ENST00000491143.2	+	2	1411	c.1379C>T	c.(1378-1380)tCc>tTc	p.S460F		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	460					cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		ATCACCATTTCCCAGCAGCTG	0.582																																						ENST00000491143.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15						c.(1378-1380)tCc>tTc		one cut homeobox 2							63.0	71.0	68.0					18																	55143819		2113	4252	6365	SO:0001583	missense	9480				organ morphogenesis	nucleus	sequence-specific DNA binding	g.chr18:55143819C>T	Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547		"""Homeoboxes / CUT class"""	8139	protein-coding gene	gene with protein product		604894	"""one cut domain, family member 2"""			9915796	Standard	NM_004852		Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.1379C>T	18.37:g.55143819C>T	ENSP00000419185:p.Ser460Phe						p.S460F	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)	2	1411	+		Colorectal(73;0.234)	460						Missense_Mutation	SNP	ENST00000491143.2	37	c.1379C>T	CCDS42440.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.790528	0.90367	.	.	ENSG00000119547	ENST00000491143;ENST00000262095	.	.	.	6.02	6.02	0.97574	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.070046	0.64402	D	0.000018	D	0.84817	0.5556	M	0.87682	2.9	0.80722	D	1	D	0.69078	0.997	D	0.69654	0.965	D	0.86157	0.1591	9	0.87932	D	0	-14.6676	20.1323	0.98003	0.0:1.0:0.0:0.0	.	460	O95948	ONEC2_HUMAN	F	441;460	.	ENSP00000262095:S460F	S	+	2	0	ONECUT2	53294817	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.857000	0.98124	0.650000	0.86243	TCC		0.582	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357264.3			15	39	0	0	0	0.146539	0	15	39				
TSGA10	80705	broad.mit.edu	37	2	99720536	99720536	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:99720536T>C	ENST00000393483.3	-	10	1349	c.505A>G	c.(505-507)Aag>Gag	p.K169E	TSGA10_ENST00000539964.1_Missense_Mutation_p.K169E|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000542655.1_Missense_Mutation_p.K169E|TSGA10_ENST00000410001.1_Missense_Mutation_p.K169E|TSGA10_ENST00000355053.4_Missense_Mutation_p.K169E	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	169					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						ATGGTTTCCTTCATCAAAGTC	0.363																																						ENST00000393483.3																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						c.(505-507)Aag>Gag		testis specific, 10							228.0	198.0	208.0					2																	99720536		2203	4300	6503	SO:0001583	missense	80705				spermatogenesis	cytoplasm|nuclear membrane		g.chr2:99720536T>C	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.505A>G	2.37:g.99720536T>C	ENSP00000377123:p.Lys169Glu					TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000410001.1_Missense_Mutation_p.K169E|TSGA10_ENST00000355053.4_Missense_Mutation_p.K169E|TSGA10_ENST00000542655.1_Missense_Mutation_p.K169E|TSGA10_ENST00000539964.1_Missense_Mutation_p.K169E	p.K169E	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN			10	1349	-			169					B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	ENST00000393483.3	37	c.505A>G	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.348301	0.82132	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482;ENST00000542655	T;T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64;0.64	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000012	T	0.64811	0.2632	M	0.72353	2.195	0.42783	D	0.993873	D;D	0.56035	0.974;0.974	D;D	0.67725	0.953;0.953	T	0.63791	-0.6557	10	0.33141	T	0.24	-21.5282	13.4119	0.60948	0.0:0.0:0.0:1.0	.	169;169	B7Z925;Q9BZW7	.;TSG10_HUMAN	E	169	ENSP00000377123:K169E;ENSP00000386956:K169E;ENSP00000347161:K169E;ENSP00000444419:K169E;ENSP00000386508:K169E;ENSP00000377122:K169E;ENSP00000445623:K169E	ENSP00000347161:K169E	K	-	1	0	TSGA10	99086968	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.410000	0.66381	2.260000	0.74910	0.529000	0.55759	AAG		0.363	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911		22	55	0	0	0	0.083992	0	22	55				
ARR3	407	broad.mit.edu	37	X	69496004	69496004	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chrX:69496004A>T	ENST00000307959.8	+	6	269	c.218A>T	c.(217-219)aAa>aTa	p.K73I	ARR3_ENST00000374495.3_Missense_Mutation_p.K73I	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	73					endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						ACGTTCCGAAAAGATCTGTAT	0.542																																						ENST00000374495.3																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						c.(217-219)aAa>aTa		arrestin 3, retinal (X-arrestin)							108.0	77.0	88.0					X																	69496004		2203	4300	6503	SO:0001583	missense	407				signal transduction|visual perception	cytoplasm|soluble fraction		g.chrX:69496004A>T		CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"""arrestin 4"""	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768	ENST00000307959.8:c.218A>T	X.37:g.69496004A>T	ENSP00000311538:p.Lys73Ile					ARR3_ENST00000307959.8_Missense_Mutation_p.K73I	p.K73I			P36575	ARRC_HUMAN			6	316	+			73					B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Missense_Mutation	SNP	ENST00000307959.8	37	c.218A>T	CCDS14399.1	.	.	.	.	.	.	.	.	.	.	A	15.08	2.726650	0.48833	.	.	ENSG00000120500	ENST00000374495;ENST00000374480;ENST00000480877;ENST00000307959	T;T;T	0.48836	0.8;0.8;0.8	4.23	4.23	0.50019	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);Arrestin, conserved site (1);	0.102540	0.64402	D	0.000003	T	0.75317	0.3833	H	0.94925	3.6	0.40652	D	0.982045	D;D	0.89917	0.997;1.0	D;D	0.87578	0.998;0.992	T	0.82559	-0.0397	10	0.87932	D	0	-3.7653	11.9648	0.53029	1.0:0.0:0.0:0.0	.	73;73	P36575;P36575-2	ARRC_HUMAN;.	I	73;73;22;73	ENSP00000363619:K73I;ENSP00000425505:K22I;ENSP00000311538:K73I	ENSP00000311538:K73I	K	+	2	0	ARR3	69412729	1.000000	0.71417	0.912000	0.35992	0.328000	0.28507	4.192000	0.58378	1.474000	0.48178	0.441000	0.28932	AAA		0.542	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057055.2	NM_004312		6	20	0	0	0	0.021553	0	6	20				
GPR112	139378	broad.mit.edu	37	X	135431431	135431431	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chrX:135431431C>G	ENST00000394143.1	+	6	5857	c.5566C>G	c.(5566-5568)Ccc>Gcc	p.P1856A	GPR112_ENST00000412101.1_Missense_Mutation_p.P1651A|GPR112_ENST00000287534.4_Missense_Mutation_p.P1793A|GPR112_ENST00000370652.1_Missense_Mutation_p.P1856A|GPR112_ENST00000394141.1_Missense_Mutation_p.P1651A	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1856					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)					CTCTCCTCCTCCCACATCCCA	0.448																																						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.(5566-5568)Ccc>Gcc		G protein-coupled receptor 112							116.0	104.0	108.0					X																	135431431		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135431431C>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.5566C>G	X.37:g.135431431C>G	ENSP00000377699:p.Pro1856Ala					GPR112_ENST00000287534.4_Missense_Mutation_p.P1793A|GPR112_ENST00000412101.1_Missense_Mutation_p.P1651A|GPR112_ENST00000394141.1_Missense_Mutation_p.P1651A|GPR112_ENST00000370652.1_Missense_Mutation_p.P1856A	p.P1856A	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	5857	+	Acute lymphoblastic leukemia(192;0.000127)		1856					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.5566C>G	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	c	0.044	-1.274698	0.01410	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.29917	1.59;1.59;1.55;1.68;1.55	3.88	1.1	0.20463	.	.	.	.	.	T	0.13970	0.0338	N	0.19112	0.55	0.09310	N	1	B;B;B	0.29552	0.248;0.048;0.028	B;B;B	0.29077	0.098;0.024;0.016	T	0.27502	-1.0072	9	0.09084	T	0.74	.	2.806	0.05427	0.0:0.4418:0.2452:0.313	.	1793;1651;1856	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	A	1856;1856;1651;1793;1651	ENSP00000377699:P1856A;ENSP00000359686:P1856A;ENSP00000416526:P1651A;ENSP00000287534:P1793A;ENSP00000377697:P1651A	ENSP00000287534:P1793A	P	+	1	0	GPR112	135259097	0.000000	0.05858	0.001000	0.08648	0.199000	0.23934	0.105000	0.15333	0.565000	0.29255	0.534000	0.68092	CCC		0.448	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			17	85	0	0	0	0.146539	0	17	85				
ERG	2078	broad.mit.edu	37	21	39947591	39947591	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr21:39947591T>C	ENST00000417133.2	-	3	219	c.34A>G	c.(34-36)Atc>Gtc	p.I12V	ERG_ENST00000442448.1_Missense_Mutation_p.I12V|ERG_ENST00000398911.1_Missense_Mutation_p.I12V|ERG_ENST00000485493.1_5'UTR|ERG_ENST00000398919.2_Missense_Mutation_p.I12V|ERG_ENST00000398910.1_Missense_Mutation_p.I12V|ERG_ENST00000398897.1_De_novo_Start_InFrame	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CTTACCTTGATATGAGCTGCT	0.507			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""																																Esophageal Squamous(130;336 1700 3010 3083 40589)	ENST00000442448.1				Dom	yes		21	21q22.3	2078	T	v-ets erythroblastosis virus E26 oncogene like (avian)			"""M, E, L"""	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""		"""Ewing sarcoma, prostate, AML"""	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	0				lung(2)|ovary(1)|skin(1)	4						c.(34-36)Atc>Gtc		v-ets avian erythroblastosis virus E26 oncogene homolog							105.0	87.0	93.0					21																	39947591		2203	4300	6503	SO:0001583	missense	2078				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:39947591T>C		CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"""v-ets avian erythroblastosis virus E26 oncogene related"", ""transcriptional regulator ERG (transforming protein ERG)"", ""v-ets erythroblastosis virus E26 oncogene like"", ""TMPRSS2-ERG prostate cancer specific"""	165080	"""v-ets avian erythroblastosis virus E26 oncogene related"""			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.34A>G	21.37:g.39947591T>C	ENSP00000414150:p.Ile12Val					ERG_ENST00000398910.1_Missense_Mutation_p.I12V|ERG_ENST00000485493.1_5'UTR|ERG_ENST00000398911.1_Missense_Mutation_p.I12V|ERG_ENST00000398919.2_Missense_Mutation_p.I12V|ERG_ENST00000417133.2_Missense_Mutation_p.I12V|ERG_ENST00000398897.1_De_novo_Start_InFrame	p.I12V	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN			3	305	-		Prostate(19;3.6e-06)	12					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000417133.2	37	c.34A>G	CCDS46648.1	.	.	.	.	.	.	.	.	.	.	T	11.04	1.522966	0.27211	.	.	ENSG00000157554	ENST00000398911;ENST00000417133;ENST00000398910;ENST00000442448;ENST00000398919	T;T;T;T;T	0.13196	2.61;2.63;2.61;2.61;2.63	5.15	-0.155	0.13395	.	0.750388	0.12686	N	0.447548	T	0.06735	0.0172	N	0.17474	0.49	0.80722	D	1	B;B;B	0.19331	0.0;0.035;0.0	B;B;B	0.12837	0.001;0.008;0.002	T	0.32561	-0.9902	10	0.29301	T	0.29	.	4.4606	0.11665	0.1352:0.2361:0.0:0.6286	.	12;12;12	P11308;P11308-6;P11308-1	ERG_HUMAN;.;.	V	12	ENSP00000381882:I12V;ENSP00000414150:I12V;ENSP00000381881:I12V;ENSP00000394694:I12V;ENSP00000381891:I12V	ENSP00000381881:I12V	I	-	1	0	ERG	38869461	0.999000	0.42202	0.986000	0.45419	0.977000	0.68977	0.565000	0.23578	-0.102000	0.12197	-0.256000	0.11100	ATC		0.507	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2	NM_182918		3	29	0	0	0	0.115264	0	3	29				
TFEC	22797	broad.mit.edu	37	7	115580975	115580975	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr7:115580975A>C	ENST00000265440.7	-	8	854	c.674T>G	c.(673-675)aTt>aGt	p.I225S	TFEC_ENST00000393485.1_3'UTR|TFEC_ENST00000320239.7_Missense_Mutation_p.I196S|TFEC_ENST00000457268.1_Missense_Mutation_p.I158S	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	225					cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			ACGAGCCTGAATTTCTAGTTC	0.388																																						ENST00000265440.7																			0				NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25						c.(673-675)aTt>aGt		transcription factor EC							68.0	70.0	69.0					7																	115580975		2199	4299	6498	SO:0001583	missense	22797					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr7:115580975A>C	D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"""Basic helix-loop-helix proteins"""	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.674T>G	7.37:g.115580975A>C	ENSP00000265440:p.Ile225Ser					TFEC_ENST00000393485.1_3'UTR|TFEC_ENST00000320239.7_Missense_Mutation_p.I196S|TFEC_ENST00000457268.1_Missense_Mutation_p.I158S	p.I225S	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		8	854	-			225					B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Missense_Mutation	SNP	ENST00000265440.7	37	c.674T>G	CCDS5762.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.215898	0.79352	.	.	ENSG00000105967	ENST00000265440;ENST00000457268;ENST00000320239	T;T;T	0.67171	-0.25;-0.25;-0.25	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.78097	0.4230	M	0.73598	2.24	0.80722	D	1	D;P	0.54397	0.966;0.943	P;P	0.58210	0.819;0.835	T	0.79174	-0.1912	10	0.44086	T	0.13	-14.1007	15.3803	0.74651	1.0:0.0:0.0:0.0	.	196;225	O14948-2;O14948	.;TFEC_HUMAN	S	225;158;196	ENSP00000265440:I225S;ENSP00000387650:I158S;ENSP00000318676:I196S	ENSP00000265440:I225S	I	-	2	0	TFEC	115368211	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.014000	0.76380	2.097000	0.63578	0.528000	0.53228	ATT		0.388	TFEC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059839.4	NM_012252		9	61	0	0	0	0.058154	0	9	61				
ACACA	31	broad.mit.edu	37	17	35600372	35600372	+	Missense_Mutation	SNP	G	G	T	rs371689992		TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr17:35600372G>T	ENST00000394406.2	-	22	2925	c.2735C>A	c.(2734-2736)cCc>cAc	p.P912H	ACACA_ENST00000360679.3_Missense_Mutation_p.P854H|ACACA_ENST00000353139.5_Missense_Mutation_p.P949H|ACACA_ENST00000335166.5_Missense_Mutation_p.P834H	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	912					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTCCACATTGGGGGGAATGCG	0.468																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(2845-2847)cCc>cAc		acetyl-CoA carboxylase alpha	Biotin(DB00121)						212.0	202.0	205.0					17																	35600372		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35600372G>T	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.2735C>A	17.37:g.35600372G>T	ENSP00000377928:p.Pro912His					ACACA_ENST00000360679.3_Missense_Mutation_p.P854H|ACACA_ENST00000335166.5_Missense_Mutation_p.P834H|ACACA_ENST00000394406.2_Missense_Mutation_p.P912H	p.P949H	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			22	3327	-		Breast(25;0.00157)|Ovarian(249;0.15)	912					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.2846C>A	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.631841	0.29068	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	4.9	3.84	0.44239	Acetyl-CoA carboxylase, central domain (1);	0.055638	0.85682	D	0.000000	T	0.67363	0.2885	L	0.52126	1.63	0.80722	D	1	D;B;B	0.54047	0.964;0.105;0.086	P;B;B	0.60789	0.879;0.081;0.049	T	0.65417	-0.6173	10	0.44086	T	0.13	-4.9846	8.0543	0.30596	0.1467:0.0:0.8533:0.0	.	949;912;854	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	H	949;854;912;936;834	ENSP00000344789:P949H;ENSP00000353898:P854H;ENSP00000377928:P912H;ENSP00000335323:P834H	ENSP00000335323:P834H	P	-	2	0	ACACA	32674485	1.000000	0.71417	0.901000	0.35422	0.921000	0.55340	5.505000	0.66981	1.025000	0.39708	0.563000	0.77884	CCC		0.468	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		20	128	1	0	1.33834e-09	0.043863	1.5003e-09	20	128				
TRIM35	23087	broad.mit.edu	37	8	27146779	27146779	+	Missense_Mutation	SNP	C	C	A	rs527461852	byFrequency	TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr8:27146779C>A	ENST00000305364.4	-	5	887	c.804G>T	c.(802-804)gaG>gaT	p.E268D	TRIM35_ENST00000521253.1_Missense_Mutation_p.A229S	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	268					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		CTGGCTCTGGCTCCATGGTGC	0.567																																						ENST00000305364.4																			0				breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14						c.(802-804)gaG>gaT		tripartite motif containing 35							78.0	67.0	71.0					8																	27146779		2203	4300	6503	SO:0001583	missense	23087				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding	g.chr8:27146779C>A	AB029021	CCDS6056.2	8p21.2	2013-01-09	2011-01-25		ENSG00000104228	ENSG00000104228		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16285	protein-coding gene	gene with protein product			"""tripartite motif-containing 35"""			11331580, 14662771, 12692137	Standard	XM_005273451		Approved	KIAA1098, MAIR, HLS5	uc003xfl.1	Q9UPQ4	OTTHUMG00000102047	ENST00000305364.4:c.804G>T	8.37:g.27146779C>A	ENSP00000301924:p.Glu268Asp					TRIM35_ENST00000521253.1_Missense_Mutation_p.A229S	p.E268D	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)	5	887	-		Ovarian(32;2.61e-05)	268					Q86XQ0|Q8WVA4	Missense_Mutation	SNP	ENST00000305364.4	37	c.804G>T	CCDS6056.2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	18.28|18.28|18.28	3.589213|3.589213|3.589213	0.66105|0.66105|0.66105	.|.|.	.|.|.	ENSG00000104228|ENSG00000104228|ENSG00000104228	ENST00000521253|ENST00000305364;ENST00000380544|ENST00000521283	T|T|.	0.64991|0.64438|.	-0.13|-0.1|.	5.95|5.95|5.95	4.17|4.17|4.17	0.49024|0.49024|0.49024	.|.|.	.|0.000000|.	.|0.64402|.	.|D|.	.|0.000003|.	T|T|T	0.43478|0.43478|0.43478	0.1249|0.1249|0.1249	L|L|L	0.52759|0.52759|0.52759	1.655|1.655|1.655	0.22034|0.22034|0.22034	N|N|N	0.999409|0.999409|0.999409	P|D|.	0.36086|0.76494|.	0.536|0.999|.	B|D|.	0.32090|0.65874|.	0.14|0.939|.	T|T|T	0.27157|0.27157|0.27157	-1.0082|-1.0082|-1.0082	9|10|5	0.08381|0.13853|.	T|T|.	0.77|0.58|.	.|.|.	9.48|9.48|9.48	0.38895|0.38895|0.38895	0.0:0.8367:0.0:0.1633|0.0:0.8367:0.0:0.1633|0.0:0.8367:0.0:0.1633	.|.|.	229|268|.	E5RGB3|Q9UPQ4|.	.|TRI35_HUMAN|.	S|D|I	229|268|33	ENSP00000428770:A229S|ENSP00000301924:E268D|.	ENSP00000428770:A229S|ENSP00000301924:E268D|.	A|E|S	-|-|-	1|3|2	0|2|0	TRIM35|TRIM35|TRIM35	27202696|27202696|27202696	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.773000|0.773000|0.773000	0.43773|0.43773|0.43773	1.640000|1.640000|1.640000	0.37186|0.37186|0.37186	0.858000|0.858000|0.858000	0.35431|0.35431|0.35431	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GCC|GAG|AGC		0.567	TRIM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219848.2	NM_171982		3	15	1	0	0.004672	0.115264	0.00480861	3	15				
HIST1H1T	3010	broad.mit.edu	37	6	26107762	26107762	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr6:26107762G>A	ENST00000338379.4	-	1	602	c.560C>T	c.(559-561)gCt>gTt	p.A187V		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	187					binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|nucleosome assembly (GO:0006334)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						TGACTTCGAAGCCCTTGCCTT	0.468																																						ENST00000338379.4																			0				breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						c.(559-561)gCt>gTt		histone cluster 1, H1t							134.0	125.0	128.0					6																	26107762		2203	4300	6503	SO:0001583	missense	3010				cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding	g.chr6:26107762G>A	M60094	CCDS34349.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000187475	ENSG00000187475		"""Histones / Replication-dependent"""	4720	protein-coding gene	gene with protein product		142712	"""H1 histone family, member T (testis-specific)"", ""histone 1, H1t"""	H1FT		8175896, 12408966	Standard	NM_005323		Approved	H1t	uc003ngj.3	P22492	OTTHUMG00000014430	ENST00000338379.4:c.560C>T	6.37:g.26107762G>A	ENSP00000341214:p.Ala187Val						p.A187V	NM_005323.3	NP_005314.2	P22492	H1T_HUMAN			1	602	-			187					Q6ISI1|Q8IUE8	Missense_Mutation	SNP	ENST00000338379.4	37	c.560C>T	CCDS34349.1	.	.	.	.	.	.	.	.	.	.	.	12.13	1.844470	0.32606	.	.	ENSG00000187475	ENST00000338379	T	0.06142	3.34	4.82	0.899	0.19271	.	0.660669	0.13356	N	0.394055	T	0.00998	0.0033	N	0.08118	0	0.09310	N	1	B	0.24721	0.11	B	0.21917	0.037	T	0.46857	-0.9161	10	0.49607	T	0.09	-0.1174	6.9936	0.24769	0.1514:0.2653:0.5833:0.0	.	187	P22492	H1T_HUMAN	V	187	ENSP00000341214:A187V	ENSP00000341214:A187V	A	-	2	0	HIST1H1T	26215741	0.003000	0.15002	0.000000	0.03702	0.005000	0.04900	1.390000	0.34464	-0.022000	0.13986	0.655000	0.94253	GCT		0.468	HIST1H1T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040093.2	NM_005323		20	99	0	0	0	0.049695	0	20	99				
DOCK2	1794	broad.mit.edu	37	5	169508940	169508940	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr5:169508940C>A	ENST00000256935.8	+	51	5462	c.5382C>A	c.(5380-5382)gaC>gaA	p.D1794E	DOCK2_ENST00000520908.1_Missense_Mutation_p.D1286E|DOCK2_ENST00000540750.1_Missense_Mutation_p.D855E|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1794					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)			CAGATGGTGACAAGAAGACAC	0.542																																						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.(5380-5382)gaC>gaA		dedicator of cytokinesis 2							114.0	105.0	108.0					5																	169508940		2203	4300	6503	SO:0001583	missense	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.chr5:169508940C>A	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.5382C>A	5.37:g.169508940C>A	ENSP00000256935:p.Asp1794Glu					DOCK2_ENST00000540750.1_Missense_Mutation_p.D855E|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.D1286E	p.D1794E	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		51	5462	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1794					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.5382C>A	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.211386	0.79240	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.09817	3.62;3.23;2.94	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.15998	0.0385	N	0.19112	0.55	0.28732	N	0.902464	P;D;P	0.76494	0.877;0.999;0.622	B;D;B	0.78314	0.315;0.991;0.235	T	0.05022	-1.0911	10	0.32370	T	0.25	.	9.4612	0.38785	0.0:0.9025:0.0:0.0975	.	1286;350;1794	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	E	1794;1286;855	ENSP00000256935:D1794E;ENSP00000429283:D1286E;ENSP00000438827:D855E	ENSP00000256935:D1794E	D	+	3	2	DOCK2	169441518	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.518000	0.35877	2.368000	0.80403	0.655000	0.94253	GAC		0.542	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		5	38	1	0	0.000602214	0.014758	0.000634669	5	38				
FANCC	2176	broad.mit.edu	37	9	97897696	97897696	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr9:97897696C>A	ENST00000289081.3	-	8	1029	c.775G>T	c.(775-777)Gaa>Taa	p.E259*	FANCC_ENST00000375305.1_Nonsense_Mutation_p.E259*	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	259					DNA repair (GO:0006281)|germ cell development (GO:0007281)|myeloid cell homeostasis (GO:0002262)|nucleotide-excision repair (GO:0006289)|protein complex assembly (GO:0006461)|removal of superoxide radicals (GO:0019430)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				ATTAGCTTTTCAAAAAGATGC	0.428			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000289081.3			yes	Rec		Fanconi anaemia C	9	9q22.3	2176	"""D, Mis, N, F, S"""	"""Fanconi anemia, complementation group C"""			L		"""AML, leukemia"""			0				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(775-777)Gaa>Taa	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group C							80.0	77.0	78.0					9																	97897696		2203	4300	6503	SO:0001587	stop_gained	2176	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	protein complex assembly	cytosol|nucleoplasm	protein binding	g.chr9:97897696C>A	BC006303	CCDS35071.1, CCDS75861.1	9q22.3	2014-09-17			ENSG00000158169	ENSG00000158169		"""Fanconi anemia, complementation groups"""	3584	protein-coding gene	gene with protein product		613899		FACC		1303234	Standard	NM_001243743		Approved	FAC, FA3	uc004avh.3	Q00597	OTTHUMG00000020279	ENST00000289081.3:c.775G>T	9.37:g.97897696C>A	ENSP00000289081:p.Glu259*					FANCC_ENST00000375305.1_Nonsense_Mutation_p.E259*	p.E259*	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN			8	1029	-		Acute lymphoblastic leukemia(62;0.138)	259					B1ALR8	Nonsense_Mutation	SNP	ENST00000289081.3	37	c.775G>T	CCDS35071.1	.	.	.	.	.	.	.	.	.	.	C	40	8.141592	0.98675	.	.	ENSG00000158169	ENST00000289081;ENST00000375305	.	.	.	5.88	4.01	0.46588	.	0.322315	0.36482	N	0.002579	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-7.5849	9.1496	0.36955	0.0:0.6472:0.2781:0.0746	.	.	.	.	X	259	.	ENSP00000289081:E259X	E	-	1	0	FANCC	96937517	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	1.868000	0.39509	0.778000	0.33520	0.655000	0.94253	GAA		0.428	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053219.1	NM_000136		8	39	1	0	0.000442599	0.058154	0.000472106	8	39				
NPY4R	5540	broad.mit.edu	37	10	47087866	47087866	+	Silent	SNP	C	C	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr10:47087866C>A	ENST00000395716.1	+	2	1168	c.1083C>A	c.(1081-1083)gtC>gtA	p.V361V	NPY4R_ENST00000374312.1_Silent_p.V361V			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	361					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										ATACGGAAGTCTCCAAAGGGT	0.567																																						ENST00000374312.1																			0											c.(1081-1083)gtC>gtA		neuropeptide Y receptor Y4							109.0	107.0	108.0					10																	47087866		2203	4300	6503	SO:0001819	synonymous_variant	5540							g.chr10:47087866C>A		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.1083C>A	10.37:g.47087866C>A						NPY4R_ENST00000395716.1_Silent_p.V361V	p.V361V	NM_005972.4	NP_005963.3					3	1502	+								Q13456|Q5ISU3|Q5T2X9|Q6FH06	Silent	SNP	ENST00000395716.1	37	c.1083C>A	CCDS31193.1																																																																																				0.567	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			21	108	1	0	0.00465635	0.099896	0.00480861	21	108				
CDH16	1014	broad.mit.edu	37	16	66945163	66945163	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr16:66945163C>T	ENST00000299752.4	-	14	2039	c.1846G>A	c.(1846-1848)Gag>Aag	p.E616K	CDH16_ENST00000565796.1_Missense_Mutation_p.E616K|CDH16_ENST00000570262.1_Missense_Mutation_p.E536K|CDH16_ENST00000394055.3_Missense_Mutation_p.E616K|CDH16_ENST00000568632.1_Missense_Mutation_p.E519K	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	616	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GTGTGCACCTCCCCGGAGAAT	0.597																																						ENST00000299752.4																			0				endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(1846-1848)Gag>Aag		cadherin 16, KSP-cadherin							41.0	39.0	40.0					16																	66945163		2200	4300	6500	SO:0001583	missense	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66945163C>T	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.1846G>A	16.37:g.66945163C>T	ENSP00000299752:p.Glu616Lys					CDH16_ENST00000394055.3_Missense_Mutation_p.E616K|CDH16_ENST00000565796.1_Missense_Mutation_p.E616K|CDH16_ENST00000570262.1_Missense_Mutation_p.E536K|CDH16_ENST00000568632.1_Missense_Mutation_p.E519K	p.E616K	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	14	2039	-		Ovarian(137;0.0563)	616			Cadherin 6.		B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	c.1846G>A	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.471219	0.26423	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.70869	-0.52;0.06	4.96	1.91	0.25777	Cadherin (3);Cadherin-like (1);	0.123853	0.53938	N	0.000051	T	0.62171	0.2406	M	0.66297	2.02	0.45261	D	0.998267	B;B;B	0.22541	0.02;0.032;0.071	B;B;B	0.19666	0.016;0.019;0.026	T	0.54622	-0.8266	10	0.42905	T	0.14	-14.0709	4.8446	0.13507	0.0:0.6322:0.1763:0.1915	.	616;616;616	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	K	616;616;580	ENSP00000377619:E616K;ENSP00000299752:E616K	ENSP00000299752:E616K	E	-	1	0	CDH16	65502664	0.904000	0.30761	1.000000	0.80357	0.239000	0.25481	-0.046000	0.11983	0.272000	0.22027	-0.448000	0.05591	GAG		0.597	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		3	18	0	0	0	0.115264	0	3	18				
SEMA5A	9037	broad.mit.edu	37	5	9224908	9224908	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr5:9224908G>C	ENST00000382496.5	-	8	1189	c.524C>G	c.(523-525)gCt>gGt	p.A175G		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	175	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CTCCCCACCAGCTGTGAGGAG	0.572																																						ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(523-525)gCt>gGt		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A							92.0	80.0	84.0					5																	9224908		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9224908G>C	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.524C>G	5.37:g.9224908G>C	ENSP00000371936:p.Ala175Gly						p.A175G	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN			8	1189	-			175			Sema.		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.524C>G	CCDS3875.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.878|9.878	1.200769|1.200769	0.22121|0.22121	.|.	.|.	ENSG00000112902|ENSG00000112902	ENST00000382496;ENST00000513968|ENST00000514923	T;T|.	0.38240|.	1.15;1.97|.	5.38|5.38	3.58|3.58	0.41010|0.41010	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);|.	0.053192|.	0.85682|.	D|.	0.000000|.	T|T	0.32133|0.32133	0.0819|0.0819	L|L	0.28556|0.28556	0.865|0.865	0.09310|0.09310	N|N	1|1	B|.	0.22211|.	0.066|.	B|.	0.25759|.	0.063|.	T|T	0.19844|0.19844	-1.0293|-1.0293	10|5	0.40728|.	T|.	0.16|.	.|.	7.4059|7.4059	0.26991|0.26991	0.0899:0.1684:0.7417:0.0|0.0899:0.1684:0.7417:0.0	.|.	175|.	Q13591|.	SEM5A_HUMAN|.	G|R	175|122	ENSP00000371936:A175G;ENSP00000421961:A175G|.	ENSP00000371936:A175G|.	A|S	-|-	2|3	0|2	SEMA5A|SEMA5A	9277908|9277908	0.980000|0.980000	0.34600|0.34600	0.002000|0.002000	0.10522|0.10522	0.206000|0.206000	0.24218|0.24218	4.983000|4.983000	0.63832|0.63832	0.639000|0.639000	0.30564|0.30564	0.650000|0.650000	0.86243|0.86243	GCT|AGC		0.572	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			15	19	0	0	0	0.119110	0	15	19				
ZNF585B	92285	broad.mit.edu	37	19	37677052	37677052	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr19:37677052C>T	ENST00000532828.2	-	5	1638	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K	ZNF585B_ENST00000312908.5_Missense_Mutation_p.E51K|ZNF585B_ENST00000531805.1_Missense_Mutation_p.E408K|ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	463					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAGGGCTTTTCTCCTGTGTGA	0.368																																					Melanoma(93;882 1454 18863 28917 48427)	ENST00000532828.2																			0				NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29						c.(1387-1389)Gaa>Aaa		zinc finger protein 585B							119.0	119.0	119.0					19																	37677052		2203	4300	6503	SO:0001583	missense	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37677052C>T	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.1387G>A	19.37:g.37677052C>T	ENSP00000433773:p.Glu463Lys					ZNF585B_ENST00000531805.1_Missense_Mutation_p.E408K|ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_Missense_Mutation_p.E51K	p.E463K	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1638	-			463					Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	c.1387G>A	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563087	0.45694	.	.	ENSG00000245680	ENST00000531805;ENST00000532828;ENST00000312908	T;T;T	0.24350	1.86;1.86;1.86	2.35	2.35	0.29111	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38436	N	0.001699	T	0.36220	0.0959	L	0.43598	1.365	0.38084	D	0.936767	D;D	0.89917	1.0;0.983	D;P	0.85130	0.997;0.82	T	0.25082	-1.0142	10	0.59425	D	0.04	.	6.4383	0.21835	0.0:0.8469:0.0:0.1531	.	408;463	E9PQH3;Q52M93	.;Z585B_HUMAN	K	408;463;51	ENSP00000436774:E408K;ENSP00000433773:E463K;ENSP00000442139:E51K	ENSP00000442139:E51K	E	-	1	0	ZNF585B	42368892	0.995000	0.38212	0.966000	0.40874	0.371000	0.29859	3.403000	0.52615	1.293000	0.44690	0.305000	0.20034	GAA		0.368	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		17	296	0	0	0	0.146539	0	17	296				
GAS2	2620	broad.mit.edu	37	11	22696395	22696395	+	Splice_Site	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr11:22696395G>A	ENST00000454584.2	+	2	285		c.e2-1		GAS2_ENST00000533092.1_Splice_Site|GAS2_ENST00000433790.1_5'UTR|GAS2_ENST00000278187.3_Splice_Site	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2						apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						TTCCAAAACAGGTATTACAAG	0.418																																						ENST00000454584.2																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						c.e2-1		growth arrest-specific 2							67.0	68.0	68.0					11																	22696395		2203	4300	6503	SO:0001630	splice_region_variant	2620				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane		g.chr11:22696395G>A	BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.-20-1G>A	11.37:g.22696395G>A						GAS2_ENST00000433790.1_5'UTR|GAS2_ENST00000278187.3_Splice_Site|GAS2_ENST00000533092.1_Splice_Site		NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN			2	285	+								B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Splice_Site	SNP	ENST00000454584.2	37		CCDS7858.1																																																																																				0.418	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387717.1	NM_177553	Intron	8	20	0	0	0	0.038147	0	8	20				
IRF2	3660	broad.mit.edu	37	4	185340660	185340660	+	Silent	SNP	T	T	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr4:185340660T>C	ENST00000393593.3	-	3	357	c.150A>G	c.(148-150)aaA>aaG	p.K50K	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	50					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		GTGGTGCATCTTTTTCCACAT	0.398																																						ENST00000393593.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22						c.(148-150)aaA>aaG		interferon regulatory factor 2							137.0	138.0	138.0					4																	185340660		2203	4300	6503	SO:0001819	synonymous_variant	3660				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr4:185340660T>C		CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.150A>G	4.37:g.185340660T>C						IRF2_ENST00000512020.1_5'UTR	p.K50K	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)	3	357	-		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)	50					D6RCK5|H0Y8S3|Q6IAS7|Q96B99	Silent	SNP	ENST00000393593.3	37	c.150A>G	CCDS3835.1																																																																																				0.398	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361393.1			11	82	0	0	0	0.093190	0	11	82				
MRPL16	54948	broad.mit.edu	37	11	59575303	59575303	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr11:59575303T>G	ENST00000300151.4	-	3	354	c.141A>C	c.(139-141)aaA>aaC	p.K47N		NM_017840.3	NP_060310.1	Q9NX20	RM16_HUMAN	mitochondrial ribosomal protein L16	47					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						TAAGCTTGGGTTTTTCAGGAA	0.368																																						ENST00000300151.4																			0				central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						c.(139-141)aaA>aaC		mitochondrial ribosomal protein L16							139.0	150.0	146.0					11																	59575303		2201	4295	6496	SO:0001583	missense	54948						rRNA binding	g.chr11:59575303T>G	AF183428	CCDS7976.1	11q12.1	2012-09-13			ENSG00000166902	ENSG00000166902		"""Mitochondrial ribosomal proteins / large subunits"""	14476	protein-coding gene	gene with protein product		611829					Standard	NM_017840		Approved	FLJ20484, PNAS-111	uc001noh.2	Q9NX20	OTTHUMG00000167410	ENST00000300151.4:c.141A>C	11.37:g.59575303T>G	ENSP00000300151:p.Lys47Asn						p.K47N	NM_017840.3	NP_060310.1	Q9NX20	RM16_HUMAN			3	354	-			47					Q9BYD0|Q9HB70	Missense_Mutation	SNP	ENST00000300151.4	37	c.141A>C	CCDS7976.1	.	.	.	.	.	.	.	.	.	.	T	15.16	2.751094	0.49257	.	.	ENSG00000166902	ENST00000300151	T	0.23950	1.88	6.07	-0.179	0.13299	.	0.332798	0.38605	N	0.001640	T	0.23572	0.0570	L	0.55481	1.735	0.34809	D	0.737552	P	0.42785	0.79	B	0.43623	0.425	T	0.26744	-1.0094	10	0.34782	T	0.22	-8.272	8.6334	0.33933	0.0:0.4992:0.0:0.5008	.	47	Q9NX20	RM16_HUMAN	N	47	ENSP00000300151:K47N	ENSP00000300151:K47N	K	-	3	2	MRPL16	59331879	0.116000	0.22171	0.422000	0.26621	0.972000	0.66771	0.174000	0.16743	-0.059000	0.13154	-0.248000	0.11899	AAA		0.368	MRPL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394521.1	NM_017840		11	160	0	0	0	0.093190	0	11	160				
FER	2241	broad.mit.edu	37	5	108233448	108233448	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr5:108233448G>C	ENST00000281092.4	+	10	1519	c.1135G>C	c.(1135-1137)Gca>Cca	p.A379P	FER_ENST00000536402.1_Intron|FER_ENST00000438717.2_Missense_Mutation_p.A204P	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	379					actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		AAAGTTTTCAGCACAGAAGGA	0.398																																					Colon(146;1051 1799 9836 27344 47401)	ENST00000281092.4																			0				NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32						c.(1135-1137)Gca>Cca		fer (fps/fes related) tyrosine kinase							70.0	67.0	68.0					5																	108233448		2202	4300	6502	SO:0001583	missense	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108233448G>C	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.1135G>C	5.37:g.108233448G>C	ENSP00000281092:p.Ala379Pro					FER_ENST00000438717.2_Missense_Mutation_p.A204P|FER_ENST00000536402.1_Intron	p.A379P	NM_005246.2	NP_005237.2	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	10	1519	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)	379					B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	37	c.1135G>C	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733599	0.89482	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	T;T	0.76060	-0.97;-0.99	5.84	5.84	0.93424	.	0.046113	0.85682	D	0.000000	D	0.84570	0.5501	M	0.73962	2.25	0.58432	D	0.999999	D	0.63880	0.993	P	0.58721	0.844	D	0.83369	0.0006	10	0.42905	T	0.14	-9.3508	20.1434	0.98067	0.0:0.0:1.0:0.0	.	379	P16591	FER_HUMAN	P	379;204	ENSP00000281092:A379P;ENSP00000394297:A204P	ENSP00000281092:A379P	A	+	1	0	FER	108261347	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.562000	0.82300	2.760000	0.94817	0.591000	0.81541	GCA		0.398	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		4	23	0	0	0	0.150653	0	4	23				
CCDC121	79635	broad.mit.edu	37	2	27850176	27850176	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:27850176A>G	ENST00000324364.3	-	2	671	c.491T>C	c.(490-492)cTa>cCa	p.L164P	GPN1_ENST00000458167.2_5'Flank|GPN1_ENST00000264718.3_5'Flank|CCDC121_ENST00000394775.3_Missense_Mutation_p.L326P|ZNF512_ENST00000556601.1_Intron|RP11-158I13.2_ENST00000505973.1_RNA|GPN1_ENST00000503738.1_5'Flank|GPN1_ENST00000515877.1_5'Flank|GPN1_ENST00000407583.3_5'Flank|GPN1_ENST00000424214.1_5'Flank|GPN1_ENST00000610189.1_5'Flank	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121	164										breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					CTTTCCCAGTAGCCTCCTGTC	0.483																																						ENST00000324364.3																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14						c.(490-492)cTa>cCa		coiled-coil domain containing 121							78.0	80.0	79.0					2																	27850176		2203	4300	6503	SO:0001583	missense	79635							g.chr2:27850176A>G	AK125354	CCDS1759.1, CCDS46247.1	2p23.2	2008-02-05			ENSG00000176714	ENSG00000176714			25833	protein-coding gene	gene with protein product							Standard	NM_024584		Approved	FLJ43364, FLJ13646	uc002rld.3	Q6ZUS5	OTTHUMG00000128427	ENST00000324364.3:c.491T>C	2.37:g.27850176A>G	ENSP00000339087:p.Leu164Pro					ZNF512_ENST00000556601.1_Intron|RP11-158I13.2_ENST00000505973.1_RNA|CCDC121_ENST00000394775.3_Missense_Mutation_p.L326P	p.L164P	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN			2	671	-	Acute lymphoblastic leukemia(172;0.155)		164					B3KW66|J3KQZ8|Q9H8G6	Missense_Mutation	SNP	ENST00000324364.3	37	c.491T>C	CCDS1759.1	.	.	.	.	.	.	.	.	.	.	A	11.46	1.644056	0.29246	.	.	ENSG00000176714	ENST00000324364;ENST00000394775	T;T	0.30448	1.53;1.53	4.83	-4.74	0.03249	.	1.636380	0.03244	N	0.180890	T	0.21674	0.0522	L	0.29908	0.895	0.09310	N	0.999999	P	0.43094	0.799	B	0.41764	0.366	T	0.29518	-1.0009	10	0.46703	T	0.11	-17.6796	4.8738	0.13646	0.5949:0.1838:0.0:0.2213	.	164	Q6ZUS5	CC121_HUMAN	P	164;326	ENSP00000339087:L164P;ENSP00000412150:L326P	ENSP00000339087:L164P	L	-	2	0	CCDC121	27703680	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.072000	0.11486	-0.554000	0.06150	-0.649000	0.03915	CTA		0.483	CCDC121-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250215.1	NM_024584		24	84	0	0	0	0.069288	0	24	84				
TTN	7273	broad.mit.edu	37	2	179433970	179433970	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:179433970C>T	ENST00000591111.1	-	276	72190	c.71966G>A	c.(71965-71967)gGa>gAa	p.G23989E	TTN_ENST00000589042.1_Missense_Mutation_p.G25630E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G16757E|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G23062E|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G16690E|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G16565E			Q8WZ42	TITIN_HUMAN	titin	23989	Fibronectin type-III 74. {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)			TATTTTGGATCCCCCATCCAA	0.393																																						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.(76888-76890)gGa>gAa		titin							195.0	196.0	195.0					2																	179433970		1860	4089	5949	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179433970C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.71966G>A	2.37:g.179433970C>T	ENSP00000465570:p.Gly23989Glu					TTN_ENST00000460472.2_Missense_Mutation_p.G16565E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G16690E|TTN_ENST00000342175.6_Missense_Mutation_p.G16757E|TTN_ENST00000342992.6_Missense_Mutation_p.G23062E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G23989E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	p.G25630E	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	77113	-			23989					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.76889G>A		.	.	.	.	.	.	.	.	.	.	C	14.33	2.503371	0.44558	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.61274	0.12;0.12;0.12;0.12	5.93	5.93	0.95920	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84986	0.5594	H	0.96015	3.755	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	D	0.88781	0.3271	9	0.87932	D	0	.	20.3311	0.98718	0.0:1.0:0.0:0.0	.	16565;16690;16757;23989	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	23062;16565;16757;16690;16563	ENSP00000343764:G23062E;ENSP00000434586:G16565E;ENSP00000340554:G16757E;ENSP00000352154:G16690E	ENSP00000340554:G16757E	G	-	2	0	TTN	179142216	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.803000	0.96430	0.650000	0.86243	GGA		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	416	0	0	0	0.049695	0	20	416				
RTN1	6252	broad.mit.edu	37	14	60212930	60212930	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr14:60212930T>C	ENST00000267484.5	-	2	846	c.511A>G	c.(511-513)Act>Gct	p.T171A		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	171					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TCTGCAGGAGTCATCTCTATT	0.507																																						ENST00000267484.5																			0				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49						c.(511-513)Act>Gct		reticulon 1							107.0	106.0	106.0					14																	60212930		2203	4300	6503	SO:0001583	missense	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60212930T>C	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.511A>G	14.37:g.60212930T>C	ENSP00000267484:p.Thr171Ala						p.T171A	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	2	846	-			171					Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	c.511A>G	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.037816	0.75617	.	.	ENSG00000139970	ENST00000267484;ENST00000433623	T	0.26518	1.73	5.48	5.48	0.80851	.	0.521809	0.22495	N	0.059315	T	0.43478	0.1249	M	0.72894	2.215	0.47407	D	0.999418	D	0.60575	0.988	P	0.54759	0.76	T	0.30592	-0.9973	10	0.38643	T	0.18	.	15.552	0.76161	0.0:0.0:0.0:1.0	.	171	Q16799	RTN1_HUMAN	A	171;97	ENSP00000267484:T171A	ENSP00000267484:T171A	T	-	1	0	RTN1	59282683	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.887000	0.69751	2.079000	0.62486	0.455000	0.32223	ACT		0.507	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			32	36	0	0	0	0.153744	0	32	36				
SIPA1L2	57568	broad.mit.edu	37	1	232600688	232600688	+	Silent	SNP	T	T	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:232600688T>C	ENST00000366630.1	-	8	3076	c.2718A>G	c.(2716-2718)ggA>ggG	p.G906G	SIPA1L2_ENST00000308942.4_5'Flank|SIPA1L2_ENST00000262861.4_Silent_p.G906G			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	906					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TACTCACTAATCCAGATGTCC	0.428																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(2716-2718)ggA>ggG		signal-induced proliferation-associated 1 like 2							93.0	93.0	93.0					1																	232600688		1973	4162	6135	SO:0001819	synonymous_variant	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232600688T>C	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2718A>G	1.37:g.232600688T>C						SIPA1L2_ENST00000262861.4_Silent_p.G906G	p.G906G			Q9P2F8	SI1L2_HUMAN			8	3076	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	906					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	ENST00000366630.1	37	c.2718A>G	CCDS41474.1																																																																																				0.428	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		44	43	0	0	0	0.117977	0	44	43				
PBX4	80714	broad.mit.edu	37	19	19681616	19681616	+	Missense_Mutation	SNP	C	C	T	rs147300531		TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr19:19681616C>T	ENST00000251203.9	-	3	506	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	74					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|XY body (GO:0001741)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						GGGGGATCTTCGTCTTGAATG	0.537																																						ENST00000251203.8																			0				large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						c.(220-222)Gaa>Aaa		pre-B-cell leukemia homeobox 4		C	LYS/GLU	2,4404	4.2+/-10.8	0,2,2201	68.0	70.0	70.0		220	2.2	0.1	19	dbSNP_134	70	0,8600		0,0,4300	no	missense	PBX4	NM_025245.2	56	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	74/375	19681616	2,13004	2203	4300	6503	SO:0001583	missense	80714						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:19681616C>T	AJ300182	CCDS12406.1	19p13.11	2014-09-11	2007-01-30		ENSG00000105717			"""Homeoboxes / TALE class"""	13403	protein-coding gene	gene with protein product		608127	"""pre-B-cell leukemia transcription factor 4"""				Standard	NM_025245		Approved		uc002nmy.3	Q9BYU1	OTTHUMG00000172310	ENST00000251203.9:c.220G>A	19.37:g.19681616C>T	ENSP00000251203:p.Glu74Lys						p.E74K	NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN			3	506	-			74					A5D8Y0|B3KUK9	Missense_Mutation	SNP	ENST00000251203.9	37	c.220G>A	CCDS12406.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.247156	0.59103	4.54E-4	0.0	ENSG00000105717	ENST00000251203	T	0.33654	1.4	3.21	2.17	0.27698	PBX (1);	0.125962	0.52532	N	0.000068	T	0.35393	0.0930	M	0.74647	2.275	0.58432	D	0.999999	B	0.21452	0.056	B	0.17433	0.018	T	0.24368	-1.0162	10	0.62326	D	0.03	-28.2651	7.9249	0.29867	0.0:0.8722:0.0:0.1278	.	74	Q9BYU1	PBX4_HUMAN	K	74	ENSP00000251203:E74K	ENSP00000251203:E74K	E	-	1	0	PBX4	19542616	1.000000	0.71417	0.066000	0.19879	0.605000	0.37080	4.790000	0.62453	0.561000	0.29186	0.196000	0.17591	GAA		0.537	PBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417784.6			7	65	0	0	0	0.038147	0	7	65				
BOD1L2	284257	broad.mit.edu	37	18	54815012	54815012	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr18:54815012C>T	ENST00000585477.1	+	1	720	c.469C>T	c.(469-471)Cca>Tca	p.P157S	CTD-2526M8.3_ENST00000590942.1_lincRNA	NM_001257964.1	NP_001244893.1	Q8IYS8	BD1L2_HUMAN	biorientation of chromosomes in cell division 1-like 2	157																	AGCACTCCCTCCAGAGCCAGA	0.468																																						ENST00000585477.1																			0											c.(469-471)Cca>Tca		biorientation of chromosomes in cell division 1-like 2																																				SO:0001583	missense	284257							g.chr18:54815012C>T	AK127964	CCDS59322.1	18q21.31	2013-10-11	2012-04-10	2012-04-10	ENSG00000228075	ENSG00000228075			28505	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member C"", ""biorientation of chromosomes in cell division 1 pseudogene"""	FAM44C, BOD1P		17938248	Standard	NM_001257964		Approved	MGC33608	uc002lgm.3	Q8IYS8	OTTHUMG00000180124	ENST00000585477.1:c.469C>T	18.37:g.54815012C>T	ENSP00000467843:p.Pro157Ser						p.P157S	NM_001257964.1	NP_001244893.1					1	720	+								B3KXU4|Q8WW13	Missense_Mutation	SNP	ENST00000585477.1	37	c.469C>T	CCDS59322.1	.	.	.	.	.	.	.	.	.	.	C	2.666	-0.278578	0.05679	.	.	ENSG00000228075	ENST00000420277	.	.	.	2.73	0.809	0.18725	.	.	.	.	.	T	0.33381	0.0861	.	.	.	0.09310	N	1	B	0.13594	0.008	B	0.09377	0.004	T	0.17077	-1.0381	7	0.27785	T	0.31	.	12.3575	0.55184	0.0:0.6766:0.3234:0.0	.	157	Q8IYS8	BD1L2_HUMAN	S	129	.	ENSP00000442342:P129S	P	+	1	0	AC100775.1	52966010	0.999000	0.42202	0.000000	0.03702	0.003000	0.03518	0.992000	0.29667	-0.265000	0.09352	-1.371000	0.01190	CCA		0.468	BOD1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449763.1	NM_001257964		6	10	0	0	0	0.038147	0	6	10				
MYO15A	51168	broad.mit.edu	37	17	18052259	18052259	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr17:18052259C>T	ENST00000205890.5	+	33	7287	c.6949C>T	c.(6949-6951)Ccc>Tcc	p.P2317S	snoU13_ENST00000459354.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2317	Tail.				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)					CAGGGGAGGCCCCAAAGTGTA	0.642																																						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.(6949-6951)Ccc>Tcc		myosin XVA							13.0	14.0	14.0					17																	18052259		1908	4112	6020	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18052259C>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.6949C>T	17.37:g.18052259C>T	ENSP00000205890:p.Pro2317Ser						p.P2317S	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			33	7287	+	all_neural(463;0.228)		2317			Tail.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.6949C>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	c	11.68	1.710449	0.30322	.	.	ENSG00000091536	ENST00000205890	D	0.87103	-2.21	4.85	-1.13	0.09775	.	.	.	.	.	T	0.73729	0.3624	L	0.38953	1.18	0.21499	N	0.999663	B	0.06786	0.001	B	0.04013	0.001	T	0.54754	-0.8246	9	0.10377	T	0.69	.	2.2172	0.03963	0.3531:0.3793:0.0997:0.1679	.	2317	Q9UKN7	MYO15_HUMAN	S	2317	ENSP00000205890:P2317S	ENSP00000205890:P2317S	P	+	1	0	MYO15A	17992984	0.015000	0.18098	0.734000	0.30879	0.729000	0.41735	0.023000	0.13533	0.427000	0.26145	0.450000	0.29827	CCC		0.642	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		2	4	0	0	0	0.115264	0	2	4				
ZRSR1	7310	broad.mit.edu	37	5	112227799	112227799	+	Missense_Mutation	SNP	A	A	G	rs712665	byFrequency	TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr5:112227799A>G	ENST00000391338.1	+	1	487	c.463A>G	c.(463-465)Agt>Ggt	p.S155G	REEP5_ENST00000513339.1_Intron|REEP5_ENST00000545426.1_Intron|REEP5_ENST00000379638.4_Intron|REEP5_ENST00000504247.1_Intron|REEP5_ENST00000474542.2_Intron|CTC-487M23.8_ENST00000506997.1_3'UTR|CTC-487M23.5_ENST00000602872.1_RNA|CTC-487M23.8_ENST00000512790.1_3'UTR	NM_001204199.1	NP_001191128.1	Q15695	U2AFL_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1	155						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|skin(1)|stomach(2)	4						TTTAGAAAATAGTACCACATG	0.433													G|||	1884	0.376198	0.6831	0.2867	5008	,	,		20786	0.1815		0.3638	False		,,,				2504	0.2382					ENST00000391338.1																			0				breast(1)|skin(1)|stomach(2)	4						c.(463-465)Agt>Ggt		zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1																																				SO:0001583	missense	7310							g.chr5:112227799A>G	D49676		5q22.2	2013-02-12	2006-09-26	2006-09-26	ENSG00000212643	ENSG00000212643		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	12456	protein-coding gene	gene with protein product	"""U2(RNU2) small nuclear RNA auxiliary factor pseudogene 1"""	601079	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein-like"", ""U2(RNU2) small nuclear RNA auxillary factor 1-like 1"", ""U2 small nuclear RNA auxillary factor 1-like 1"""	U2AFBPL, U2AF1P, U2AF1L1		7956352	Standard	NG_005419		Approved	U2AF1-RS1, U2AF1RS1	uc021ycm.1	Q15695	OTTHUMG00000163143	ENST00000391338.1:c.463A>G	5.37:g.112227799A>G	ENSP00000375133:p.Ser155Gly					REEP5_ENST00000545426.1_Intron|REEP5_ENST00000504247.1_Intron|REEP5_ENST00000513339.1_Intron|SRP19_ENST00000512790.1_3'UTR|REEP5_ENST00000379638.4_Intron|REEP5_ENST00000474542.2_Intron	p.S155G	NM_001204199.1	NP_001191128.1					1	487	+								B2R901|Q13570|Q2M3R8	Missense_Mutation	SNP	ENST00000391338.1	37	c.463A>G		797	0.3649267399267399	315	0.6402439024390244	109	0.3011049723756906	109	0.19055944055944055	264	0.3482849604221636	G	2.141	-0.396859	0.04899	.	.	ENSG00000212643	ENST00000391338	.	.	.	2.31	2.31	0.28768	.	0.322273	0.37219	N	0.002193	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.10296	0.003	B	0.06405	0.002	T	0.47086	-0.9144	7	0.02654	T	1	.	7.0754	0.25201	0.154:0.0:0.846:0.0	rs712665;rs1619690;rs3733965;rs58992073;rs712665	155	Q15695	U2AFL_HUMAN	G	155	.	ENSP00000375133:S155G	S	+	1	0	ZRSR1	112255698	1.000000	0.71417	0.026000	0.17262	0.556000	0.35491	2.463000	0.45058	0.094000	0.17404	-0.349000	0.07799	AGT		0.433	ZRSR1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371801.1	NM_005083		3	58	0	0	0	0.150653	0	3	58				
DDX41	51428	broad.mit.edu	37	5	176939861	176939861	+	Missense_Mutation	SNP	T	T	C	rs35272017		TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr5:176939861T>C	ENST00000507955.1	-	13	1842	c.1319A>G	c.(1318-1320)gAg>gGg	p.E440G	DOK3_ENST00000312943.6_5'Flank|DOK3_ENST00000377112.4_5'Flank|DOK3_ENST00000501403.2_5'Flank|DDX41_ENST00000506965.1_5'Flank	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	440	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TGCCTTCTTCTCTGCAAAGAT	0.607																																						ENST00000507955.1																			0											c.(1318-1320)gAg>gGg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 41							124.0	104.0	111.0					5																	176939861		2203	4300	6503	SO:0001583	missense	51428				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding	g.chr5:176939861T>C	AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"""DEAD-boxes"""	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.1319A>G	5.37:g.176939861T>C	ENSP00000422753:p.Glu440Gly						p.E440G	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		13	1842	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	440			Helicase C-terminal.		B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Missense_Mutation	SNP	ENST00000507955.1	37	c.1319A>G	CCDS4427.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.903065	0.92035	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	D;D	0.92595	-3.07;-3.07	5.77	5.77	0.91146	Helicase, C-terminal (1);	0.170875	0.50627	D	0.000102	D	0.92338	0.7569	L	0.27975	0.815	0.80722	D	1	D;D	0.71674	0.994;0.998	P;P	0.61592	0.767;0.891	D	0.93033	0.6450	10	0.52906	T	0.07	-26.5417	16.0892	0.81080	0.0:0.0:0.0:1.0	.	314;440	B3KRK2;Q9UJV9	.;DDX41_HUMAN	G	458;440	ENSP00000330349:E458G;ENSP00000422753:E440G	ENSP00000330349:E458G	E	-	2	0	DDX41	176872467	1.000000	0.71417	0.985000	0.45067	0.975000	0.68041	7.900000	0.87376	2.208000	0.71279	0.454000	0.30748	GAG		0.607	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253432.2	NM_016222		11	68	0	0	0	0.069234	0	11	68				
ARHGEF12	23365	broad.mit.edu	37	11	120346103	120346103	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr11:120346103A>T	ENST00000397843.2	+	33	3330	c.3164A>T	c.(3163-3165)gAt>gTt	p.D1055V	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.D952V|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.D1036V	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1055	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		AAGCAGGATGATAGACTGGTT	0.373			T	MLL	AML																																	ENST00000397843.2				Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61						c.(3163-3165)gAt>gTt		Rho guanine nucleotide exchange factor (GEF) 12							191.0	175.0	180.0					11																	120346103		1934	4134	6068	SO:0001583	missense	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120346103A>T	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.3164A>T	11.37:g.120346103A>T	ENSP00000380942:p.Asp1055Val					ARHGEF12_ENST00000356641.3_Missense_Mutation_p.D1036V|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.D952V	p.D1055V	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	33	3330	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	1055			PH.		O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	c.3164A>T	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.680942	0.88542	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.66995	-0.24;-0.24;-0.24	5.16	5.16	0.70880	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.50627	D	0.000107	T	0.80884	0.4709	M	0.73598	2.24	0.80722	D	1	D;D;D	0.71674	0.98;0.998;0.997	D;D;D	0.70487	0.925;0.969;0.932	D	0.83676	0.0169	10	0.87932	D	0	-16.085	15.2904	0.73862	1.0:0.0:0.0:0.0	.	952;1036;1055	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	V	1055;1036;952	ENSP00000380942:D1055V;ENSP00000349056:D1036V;ENSP00000432984:D952V	ENSP00000349056:D1036V	D	+	2	0	ARHGEF12	119851313	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.133000	0.94460	2.054000	0.61138	0.533000	0.62120	GAT		0.373	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		8	69	0	0	0	0.047766	0	8	69				
CLASP1	23332	broad.mit.edu	37	2	122155929	122155929	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:122155929A>G	ENST00000263710.4	-	29	3337	c.2948T>C	c.(2947-2949)aTt>aCt	p.I983T	CLASP1_ENST00000409078.3_Missense_Mutation_p.I955T|CLASP1_ENST00000541377.1_Missense_Mutation_p.I961T|CLASP1_ENST00000455322.2_Missense_Mutation_p.I978T|CLASP1_ENST00000541859.1_Missense_Mutation_p.I739T|CLASP1_ENST00000545861.1_Missense_Mutation_p.I729T|CLASP1_ENST00000397587.3_Missense_Mutation_p.I962T	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	983					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TTGATCCACAATAAATCTCAT	0.299																																						ENST00000263710.4																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47						c.(2947-2949)aTt>aCt		cytoplasmic linker associated protein 1							85.0	79.0	81.0					2																	122155929		1812	4078	5890	SO:0001583	missense	23332				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	g.chr2:122155929A>G	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.2948T>C	2.37:g.122155929A>G	ENSP00000263710:p.Ile983Thr					CLASP1_ENST00000455322.2_Missense_Mutation_p.I978T|CLASP1_ENST00000409078.3_Missense_Mutation_p.I955T|CLASP1_ENST00000541377.1_Missense_Mutation_p.I961T|CLASP1_ENST00000397587.3_Missense_Mutation_p.I962T|CLASP1_ENST00000541859.1_Missense_Mutation_p.I739T|CLASP1_ENST00000545861.1_Missense_Mutation_p.I729T	p.I983T	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN			29	3337	-	Renal(3;0.0496)		983					B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37	c.2948T>C		.	.	.	.	.	.	.	.	.	.	A	11.23	1.578266	0.28180	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35	5.91	3.54	0.40534	Armadillo-like helical (1);Armadillo-type fold (1);	0.046694	0.85682	D	0.000000	T	0.49508	0.1561	N	0.24115	0.695	0.58432	D	0.999992	P;P;P	0.43094	0.651;0.799;0.745	B;B;B	0.42522	0.122;0.39;0.298	T	0.30880	-0.9963	10	0.14252	T	0.57	-10.3428	9.0234	0.36213	0.8567:0.0:0.1433:0.0	.	955;962;983	E7EUA5;F5GWS0;Q7Z460	.;.;CLAP1_HUMAN	T	983;978;962;961;739;955;729	ENSP00000263710:I983T;ENSP00000389372:I978T;ENSP00000380717:I962T;ENSP00000441625:I961T;ENSP00000441770:I739T;ENSP00000386442:I955T;ENSP00000438620:I729T	ENSP00000263710:I983T	I	-	2	0	CLASP1	121872399	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.183000	0.77697	0.491000	0.27793	0.533000	0.62120	ATT		0.299	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		3	3	0	0	0	0.014758	0	3	3				
DSCAM	1826	broad.mit.edu	37	21	41711195	41711195	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr21:41711195T>C	ENST00000400454.1	-	7	1835	c.1358A>G	c.(1357-1359)cAc>cGc	p.H453R		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	453	Ig-like C2-type 5.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCTGATGCGGTGACTGCCACC	0.607																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(1357-1359)cAc>cGc		Down syndrome cell adhesion molecule							78.0	80.0	80.0					21																	41711195		2096	4219	6315	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41711195T>C	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1358A>G	21.37:g.41711195T>C	ENSP00000383303:p.His453Arg						p.H453R	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			7	1835	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	453			Ig-like C2-type 5.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.1358A>G	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	T	11.07	1.529509	0.27387	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.67523	-0.27;-0.27	5.82	5.82	0.92795	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.59445	0.2194	L	0.31371	0.925	0.49582	D	0.999804	B	0.29232	0.238	B	0.34873	0.191	T	0.56866	-0.7908	10	0.33141	T	0.24	.	16.1569	0.81675	0.0:0.0:0.0:1.0	.	453	O60469	DSCAM_HUMAN	R	453;205	ENSP00000383303:H453R;ENSP00000385342:H205R	ENSP00000383303:H453R	H	-	2	0	DSCAM	40633065	1.000000	0.71417	0.997000	0.53966	0.025000	0.11179	4.987000	0.63857	2.215000	0.71742	0.533000	0.62120	CAC		0.607	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		3	36	0	0	0	0.150653	0	3	36				
FARP2	9855	broad.mit.edu	37	2	242401976	242401976	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:242401976G>A	ENST00000264042.3	+	15	1796	c.1626G>A	c.(1624-1626)gaG>gaA	p.E542E	FARP2_ENST00000545004.1_Silent_p.E542E|FARP2_ENST00000373287.4_Silent_p.E542E	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	542	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		TAGTCAAAGAGATTCTCGCTA	0.453																																						ENST00000264042.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(1624-1626)gaG>gaA		FERM, RhoGEF and pleckstrin domain protein 2							103.0	96.0	98.0					2																	242401976		2203	4300	6503	SO:0001819	synonymous_variant	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242401976G>A	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.1626G>A	2.37:g.242401976G>A						FARP2_ENST00000373287.4_Silent_p.E542E|FARP2_ENST00000545004.1_Silent_p.E542E	p.E542E	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	15	1796	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	542			DH.		B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Silent	SNP	ENST00000264042.3	37	c.1626G>A	CCDS33424.1																																																																																				0.453	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			9	50	0	0	0	0.093190	0	9	50				
RICTOR	253260	broad.mit.edu	37	5	38950400	38950400	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr5:38950400T>G	ENST00000357387.3	-	31	3580	c.3550A>C	c.(3550-3552)Aaa>Caa	p.K1184Q	RICTOR_ENST00000296782.5_Missense_Mutation_p.K1184Q	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TTGGTGAATTTTAAGTCATTT	0.368																																						ENST00000357387.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75						c.(3550-3552)Aaa>Caa		RPTOR independent companion of MTOR, complex 2							141.0	152.0	148.0					5																	38950400		2203	4299	6502	SO:0001583	missense	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38950400T>G		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.3550A>C	5.37:g.38950400T>G	ENSP00000349959:p.Lys1184Gln					RICTOR_ENST00000296782.5_Missense_Mutation_p.K1184Q	p.K1184Q	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN			31	3580	-	all_lung(31;0.000396)		1184						Missense_Mutation	SNP	ENST00000357387.3	37	c.3550A>C	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	T	13.62	2.292857	0.40594	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.47869	0.84;0.83	5.86	5.86	0.93980	.	0.096756	0.64402	D	0.000001	T	0.48589	0.1508	L	0.50333	1.59	0.39808	D	0.972665	P;P	0.40476	0.718;0.718	B;B	0.41036	0.346;0.346	T	0.55522	-0.8128	10	0.87932	D	0	-22.4618	16.5602	0.84551	0.0:0.0:0.0:1.0	.	1184;1184	Q6R327;Q6R327-3	RICTR_HUMAN;.	Q	1184	ENSP00000349959:K1184Q;ENSP00000296782:K1184Q	ENSP00000296782:K1184Q	K	-	1	0	RICTOR	38986157	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	4.976000	0.63785	2.367000	0.80283	0.528000	0.53228	AAA		0.368	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		29	137	0	0	0	0.116897	0	29	137				
PFKL	5211	broad.mit.edu	37	21	45730967	45730967	+	Splice_Site	SNP	G	G	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr21:45730967G>T	ENST00000349048.4	+	3	292		c.e3+1		PFKL_ENST00000496824.1_Splice_Site|PFKL_ENST00000403390.1_Splice_Site	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver						carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		CATCCAGCTGGTGAGGCCTGG	0.572																																						ENST00000403390.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.e4+1		phosphofructokinase, liver							135.0	95.0	109.0					21																	45730967		2203	4299	6502	SO:0001630	splice_region_variant	5211				fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	g.chr21:45730967G>T		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.237+1G>T	21.37:g.45730967G>T						PFKL_ENST00000349048.4_Splice_Site|PFKL_ENST00000496824.1_Splice_Site				P17858	K6PL_HUMAN		Colorectal(79;0.0811)	4	378	+								Q96A64|Q96IH4|Q9BR91	Splice_Site	SNP	ENST00000349048.4	37		CCDS33582.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.193123	0.38707	.	.	ENSG00000141959	ENST00000349048;ENST00000381188;ENST00000403390	.	.	.	4.35	4.35	0.52113	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.102	0.81178	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PFKL	44555395	1.000000	0.71417	1.000000	0.80357	0.196000	0.23810	9.270000	0.95690	2.154000	0.67381	0.454000	0.30748	.		0.572	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1		Intron	6	20	1	0	3.59834e-05	0.021553	3.88532e-05	6	20				
EVC	2121	broad.mit.edu	37	4	5755517	5755517	+	Missense_Mutation	SNP	G	G	A	rs202150959		TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr4:5755517G>A	ENST00000264956.6	+	10	1505	c.1321G>A	c.(1321-1323)Gtc>Atc	p.V441I	EVC_ENST00000509451.1_Missense_Mutation_p.V441I|EVC_ENST00000382674.2_Missense_Mutation_p.V441I	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	441					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CCCAGAGTTTGTCCAGCGAGG	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		19349	0.0		0.001	False		,,,				2504	0.0					ENST00000382674.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28						c.(1321-1323)Gtc>Atc		Ellis van Creveld syndrome		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	103.0	106.0	105.0		1321	3.6	0.9	4		105	6,8594	5.0+/-18.6	0,6,4294	yes	missense	EVC	NM_153717.2	29	0,7,6496	AA,AG,GG		0.0698,0.0227,0.0538	benign	441/993	5755517	7,12999	2203	4300	6503	SO:0001583	missense	2121				muscle organ development	integral to membrane		g.chr4:5755517G>A	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.1321G>A	4.37:g.5755517G>A	ENSP00000264956:p.Val441Ile					EVC_ENST00000264956.6_Missense_Mutation_p.V441I|EVC_ENST00000509451.1_Missense_Mutation_p.V441I	p.V441I			P57679	EVC_HUMAN			10	1505	+		Myeloproliferative disorder(84;0.117)	441						Missense_Mutation	SNP	ENST00000264956.6	37	c.1321G>A	CCDS3383.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	9.873	1.199391	0.22121	2.27E-4	6.98E-4	ENSG00000072840	ENST00000264956;ENST00000382674;ENST00000509451	T;T;T	0.51071	0.72;0.72;0.78	4.74	3.63	0.41609	.	0.706756	0.13402	N	0.390574	T	0.36413	0.0966	L	0.45581	1.43	0.50467	D	0.999873	B	0.16396	0.017	B	0.15052	0.012	T	0.11867	-1.0570	10	0.26408	T	0.33	.	4.8601	0.13579	0.1582:0.1967:0.6451:0.0	.	441	P57679	EVC_HUMAN	I	441	ENSP00000264956:V441I;ENSP00000372120:V441I;ENSP00000426774:V441I	ENSP00000264956:V441I	V	+	1	0	EVC	5806418	0.010000	0.17322	0.907000	0.35723	0.874000	0.50279	0.457000	0.21875	0.680000	0.31366	0.561000	0.74099	GTC		0.552	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			5	91	0	0	0	0.014758	0	5	91				
RELN	5649	broad.mit.edu	37	7	103138354	103138354	+	Missense_Mutation	SNP	G	G	A	rs114501042	byFrequency	TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr7:103138354G>A	ENST00000428762.1	-	55	9022	c.8863C>T	c.(8863-8865)Cgc>Tgc	p.R2955C	RELN_ENST00000343529.5_Missense_Mutation_p.R2955C|RELN_ENST00000424685.2_Missense_Mutation_p.R2955C|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2955					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)		CTACCGATGCGCCCCCAGTAT	0.468													G|||	4	0.000798722	0.0	0.0	5008	,	,		19228	0.004		0.0	False		,,,				2504	0.0				NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			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.(8863-8865)Cgc>Tgc		reelin							111.0	85.0	94.0					7																	103138354		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.chr7:103138354G>A		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.8863C>T	7.37:g.103138354G>A	ENSP00000392423:p.Arg2955Cys					CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.R2955C|RELN_ENST00000424685.2_Missense_Mutation_p.R2955C	p.R2955C	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	55	9022	-			2955					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.8863C>T	CCDS47680.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	G	23.3	4.397802	0.83120	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.24723	1.84;1.84;1.84	5.89	3.92	0.45320	Neuraminidase (3);	0.000000	0.85682	D	0.000000	T	0.46328	0.1387	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.982	T	0.42716	-0.9435	10	0.87932	D	0	.	13.3669	0.60689	0.0:0.0:0.6771:0.3229	.	2955;2955	P78509-2;P78509	.;RELN_HUMAN	C	2955;2955;2955;472;2955	ENSP00000392423:R2955C;ENSP00000345694:R2955C;ENSP00000388446:R2955C	ENSP00000345694:R2955C	R	-	1	0	RELN	102925590	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.136000	0.64783	2.793000	0.96121	0.655000	0.94253	CGC		0.468	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		11	37	0	0	0	0.069234	0	11	37				
ADCY2	108	broad.mit.edu	37	5	7695903	7695903	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr5:7695903C>A	ENST00000338316.4	+	6	997	c.908C>A	c.(907-909)gCa>gAa	p.A303E	ADCY2_ENST00000537121.1_Missense_Mutation_p.A123E	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	303					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACCCGGCTGGCAAGTGACTGC	0.428																																						ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(907-909)gCa>gAa		adenylate cyclase 2 (brain)							99.0	90.0	93.0					5																	7695903		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7695903C>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.908C>A	5.37:g.7695903C>A	ENSP00000342952:p.Ala303Glu					ADCY2_ENST00000537121.1_Missense_Mutation_p.A123E	p.A303E	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			6	997	+			303					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.908C>A	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	C	31	5.058311	0.93846	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000515681;ENST00000537121	D;D;D	0.85556	-2.0;-2.0;-2.0	5.51	4.63	0.57726	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.92987	0.7768	M	0.86343	2.81	0.49687	D	0.999818	D;D	0.71674	0.991;0.998	D;D	0.72075	0.921;0.976	D	0.94276	0.7515	10	0.87932	D	0	.	15.9614	0.79933	0.1361:0.8639:0.0:0.0	.	123;303	B7Z2C1;Q08462	.;ADCY2_HUMAN	E	303;154;92;123	ENSP00000342952:A303E;ENSP00000425069:A92E;ENSP00000444803:A123E	ENSP00000342952:A303E	A	+	2	0	ADCY2	7748903	1.000000	0.71417	0.982000	0.44146	0.956000	0.61745	7.444000	0.80532	1.427000	0.47276	0.655000	0.94253	GCA		0.428	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		15	14	1	0	2.32078e-09	0.132662	2.58518e-09	15	14				
PLEKHM2	23207	broad.mit.edu	37	1	16059015	16059015	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:16059015C>G	ENST00000375799.3	+	18	3023	c.2796C>G	c.(2794-2796)taC>taG	p.Y932*	PLEKHM2_ENST00000477849.1_3'UTR|PLEKHM2_ENST00000375793.2_Nonsense_Mutation_p.Y912*|RP11-288I21.1_ENST00000453804.1_RNA	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	932					Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GCAAGGAGTACTGCGTCTTGG	0.632																																						ENST00000375799.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(2794-2796)taC>taG		pleckstrin homology domain containing, family M (with RUN domain) member 2							29.0	35.0	33.0					1																	16059015		2033	4178	6211	SO:0001587	stop_gained	23207				Golgi organization	cytoplasm	kinesin binding	g.chr1:16059015C>G	AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"""Pleckstrin homology (PH) domain containing"""	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.2796C>G	1.37:g.16059015C>G	ENSP00000364956:p.Tyr932*					PLEKHM2_ENST00000375793.2_Nonsense_Mutation_p.Y912*|PLEKHM2_ENST00000477849.1_3'UTR|RP11-288I21.1_ENST00000453804.1_RNA	p.Y932*	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	18	3023	+		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	932					O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Nonsense_Mutation	SNP	ENST00000375799.3	37	c.2796C>G	CCDS44063.1	.	.	.	.	.	.	.	.	.	.	C	41	9.013508	0.99037	.	.	ENSG00000116786	ENST00000375799;ENST00000375793	.	.	.	4.77	3.86	0.44501	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.8659	13.5229	0.61578	0.0:0.9239:0.0:0.0761	.	.	.	.	X	932;912	.	ENSP00000364950:Y912X	Y	+	3	2	PLEKHM2	15931602	1.000000	0.71417	0.999000	0.59377	0.917000	0.54804	2.203000	0.42752	1.150000	0.42419	-0.126000	0.14955	TAC		0.632	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008463.1	NM_015164		8	8	0	0	0	0.038147	0	8	8				
LCT	3938	broad.mit.edu	37	2	136566291	136566291	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:136566291T>G	ENST00000264162.2	-	8	3636	c.3626A>C	c.(3625-3627)tAc>tCc	p.Y1209S	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1209	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)	TCTGGAGTAGTACGTGTTGAG	0.577																																						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.(3625-3627)tAc>tCc		lactase							208.0	177.0	188.0					2																	136566291		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.chr2:136566291T>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.3626A>C	2.37:g.136566291T>G	ENSP00000264162:p.Tyr1209Ser						p.Y1209S	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	3636	-			1209			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.3626A>C	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	T	16.54	3.152006	0.57151	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.76709	-1.04	5.76	5.76	0.90799	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.052190	0.85682	D	0.000000	D	0.93044	0.7786	H	0.98849	4.35	0.58432	D	0.999999	D	0.69078	0.997	D	0.73708	0.981	D	0.95780	0.8816	10	0.87932	D	0	-17.2433	16.0677	0.80897	0.0:0.0:0.0:1.0	.	1209	P09848	LPH_HUMAN	S	1209;641	ENSP00000264162:Y1209S	ENSP00000264162:Y1209S	Y	-	2	0	LCT	136282761	1.000000	0.71417	0.889000	0.34880	0.334000	0.28698	8.040000	0.89188	2.185000	0.69588	0.460000	0.39030	TAC		0.577	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		45	96	0	0	0	0.131918	0	45	96				
APOB	338	broad.mit.edu	37	2	21231328	21231328	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:21231328G>A	ENST00000233242.1	-	26	8539	c.8412C>T	c.(8410-8412)ctC>ctT	p.L2804L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2804					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATCAAAATTGAGAACTTCTA	0.448																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(8410-8412)ctC>ctT		apolipoprotein B	Atorvastatin(DB01076)						102.0	104.0	103.0					2																	21231328		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21231328G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8412C>T	2.37:g.21231328G>A							p.L2804L	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	8539	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2804					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.8412C>T	CCDS1703.1																																																																																				0.448	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			30	114	0	0	0	0.134883	0	30	114				
NCKAP1	10787	broad.mit.edu	37	2	183866755	183866755	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:183866755G>C	ENST00000361354.4	-	6	901	c.529C>G	c.(529-531)Cgc>Ggc	p.R177G	NCKAP1_ENST00000360982.2_Missense_Mutation_p.R183G	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	177					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TGGCCAAGGCGTGGGTATTCT	0.363																																						ENST00000360982.2																			0				breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45						c.(547-549)Cgc>Ggc		NCK-associated protein 1							147.0	146.0	147.0					2																	183866755		2203	4300	6503	SO:0001583	missense	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183866755G>C	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.529C>G	2.37:g.183866755G>C	ENSP00000355348:p.Arg177Gly					NCKAP1_ENST00000361354.3_Missense_Mutation_p.R177G	p.R183G	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		7	1305	-			177					O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	c.547C>G	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.541400	0.65085	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.57436	0.4;0.4	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.77955	0.4208	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.81577	-0.0869	10	0.87932	D	0	-6.8641	19.4491	0.94860	0.0:0.0:1.0:0.0	.	177;183	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	G	177;183	ENSP00000355348:R177G;ENSP00000354251:R183G	ENSP00000354251:R183G	R	-	1	0	NCKAP1	183575000	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.630000	0.61297	2.603000	0.88011	0.650000	0.86243	CGC		0.363	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		6	108	0	0	0	0.021553	0	6	108				
SUV39H1	6839	broad.mit.edu	37	X	48564702	48564702	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chrX:48564702G>A	ENST00000376687.3	+	4	1065	c.875G>A	c.(874-876)cGt>cAt	p.R292H	SUV39H1_ENST00000482260.1_3'UTR|SUV39H1_ENST00000337852.6_Missense_Mutation_p.R303H|AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000453214.2_Missense_Mutation_p.V140I	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	292	Mediates interaction with MECOM. {ECO:0000250}.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chromatin organization (GO:0006325)|chromatin silencing at rDNA (GO:0000183)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin silencing complex (GO:0005677)|chromosome, centromeric region (GO:0000775)|condensed nuclear chromosome (GO:0000794)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|rDNA heterochromatin (GO:0033553)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|protein N-terminus binding (GO:0047485)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.R292H(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						ATCTACGACCGTCAGGGCGCC	0.582																																						ENST00000376687.3																			1	Substitution - Missense(1)	p.R292H(1)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(874-876)cGt>cAt		suppressor of variegation 3-9 homolog 1 (Drosophila)							71.0	62.0	65.0					X																	48564702		2203	4300	6503	SO:0001583	missense	6839				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding	g.chrX:48564702G>A	AF019968	CCDS14304.1, CCDS65252.1	Xp11.23	2011-07-01	2001-11-28		ENSG00000101945	ENSG00000101945		"""Chromatin-modifying enzymes / K-methyltransferases"""	11479	protein-coding gene	gene with protein product		300254	"""suppressor of variegation 3-9 (Drosophila) homolog 1"""	SUV39H		10202156	Standard	NM_001282166		Approved	KMT1A	uc004dkn.3	O43463	OTTHUMG00000022701	ENST00000376687.3:c.875G>A	X.37:g.48564702G>A	ENSP00000365877:p.Arg292His					SUV39H1_ENST00000337852.6_Missense_Mutation_p.R303H|SUV39H1_ENST00000453214.2_Missense_Mutation_p.V140I|AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000482260.1_3'UTR	p.R292H	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN			4	1065	+			292			Mediates interaction with MECOM (By similarity).|SET.		B2R6E8|B4DST0|Q53G60|Q6FHK6	Missense_Mutation	SNP	ENST00000376687.3	37	c.875G>A	CCDS14304.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.45|17.45	3.392294|3.392294	0.62066|0.62066	.|.	.|.	ENSG00000101945|ENSG00000101945	ENST00000337852;ENST00000376687;ENST00000448548|ENST00000453214	D;D|.	0.81739|.	-1.53;-1.53|.	4.39|4.39	3.5|3.5	0.40072|0.40072	SET domain (3);|.	0.081678|.	0.47093|.	D|.	0.000245|.	T|T	0.43299|0.43299	0.1241|0.1241	L|L	0.49778|0.49778	1.585|1.585	0.19575|0.19575	N|N	0.999963|0.999963	P;P|.	0.39131|.	0.661;0.661|.	B;B|.	0.32583|.	0.148;0.148|.	T|T	0.25676|0.25676	-1.0125|-1.0125	10|5	0.45353|.	T|.	0.12|.	.|.	9.552|9.552	0.39315|0.39315	0.1114:0.0:0.8886:0.0|0.1114:0.0:0.8886:0.0	.|.	303;292|.	B4DST0;O43463|.	.;SUV91_HUMAN|.	H|I	303;292;288|140	ENSP00000337976:R303H;ENSP00000365877:R292H|.	ENSP00000337976:R303H|.	R|V	+|+	2|1	0|0	SUV39H1|SUV39H1	48449646|48449646	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.549000|0.549000	0.35272|0.35272	2.532000|2.532000	0.45659|0.45659	2.024000|2.024000	0.59613|0.59613	0.287000|0.287000	0.19450|0.19450	CGT|GTC		0.582	SUV39H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058909.1	NM_003173		4	45	0	0	0	0.150653	0	4	45				
TTN	7273	broad.mit.edu	37	2	179457754	179457754	+	Missense_Mutation	SNP	C	C	T	rs397517642		TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:179457754C>T	ENST00000591111.1	-	250	54393	c.54169G>A	c.(54169-54171)Gat>Aat	p.D18057N	TTN_ENST00000589042.1_Missense_Mutation_p.D19698N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D10825N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D17130N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D10758N|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D10633N			Q8WZ42	TITIN_HUMAN	titin	18057	Fibronectin type-III 31. {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)			CAAGTTAGATCGACTGAATTG	0.393																																						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.(59092-59094)Gat>Aat		titin							131.0	126.0	128.0					2																	179457754		1909	4138	6047	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179457754C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.54169G>A	2.37:g.179457754C>T	ENSP00000465570:p.Asp18057Asn					TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D10633N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D10758N|TTN_ENST00000342175.6_Missense_Mutation_p.D10825N|TTN_ENST00000342992.6_Missense_Mutation_p.D17130N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D18057N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	p.D19698N	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)		300	59316	-			18057			Fibronectin type-III 42.		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.59092G>A		.	.	.	.	.	.	.	.	.	.	C	13.72	2.322586	0.41096	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	6.16	6.16	0.99307	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.36468	0.0968	N	0.05383	-0.06	0.33284	D	0.562618	B;B;P;B	0.40794	0.426;0.426;0.729;0.426	B;B;B;B	0.33750	0.169;0.169;0.169;0.126	T	0.53739	-0.8396	9	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	10633;10758;10825;18057	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	17130;10633;10825;10758;10631	ENSP00000343764:D17130N;ENSP00000434586:D10633N;ENSP00000340554:D10825N;ENSP00000352154:D10758N	ENSP00000340554:D10825N	D	-	1	0	TTN	179166000	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.656000	0.54467	2.937000	0.99478	0.650000	0.86243	GAT		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	216	0	0	0	0.029380	0	7	216				
NINL	22981	broad.mit.edu	37	20	25477346	25477346	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr20:25477346C>T	ENST00000278886.6	-	10	1336	c.1263G>A	c.(1261-1263)atG>atA	p.M421I	NINL_ENST00000422516.1_Missense_Mutation_p.M421I	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	421					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GGCAGTCGTCCATCTCTTTCA	0.602																																						ENST00000278886.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(1261-1263)atG>atA		ninein-like							105.0	88.0	94.0					20																	25477346		2203	4300	6503	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25477346C>T		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.1263G>A	20.37:g.25477346C>T	ENSP00000278886:p.Met421Ile					NINL_ENST00000422516.1_Missense_Mutation_p.M421I	p.M421I	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN			10	1336	-			421					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.1263G>A	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.898629	0.33535	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.27104	1.92;1.69	5.03	5.03	0.67393	.	0.180238	0.48767	D	0.000179	T	0.27134	0.0665	M	0.63428	1.95	0.36693	D	0.879671	P;P	0.49185	0.794;0.92	B;B	0.39805	0.31;0.292	T	0.33445	-0.9868	10	0.45353	T	0.12	-31.6993	13.5975	0.61998	0.0:0.8431:0.1569:0.0	.	421;421	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	I	421	ENSP00000278886:M421I;ENSP00000410431:M421I	ENSP00000278886:M421I	M	-	3	0	NINL	25425346	1.000000	0.71417	1.000000	0.80357	0.461000	0.32589	1.795000	0.38784	2.596000	0.87737	0.650000	0.86243	ATG		0.602	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		6	37	0	0	0	0.021553	0	6	37				
MRGPRX3	117195	broad.mit.edu	37	11	18158851	18158851	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr11:18158851G>A	ENST00000396275.2	+	3	463	c.102G>A	c.(100-102)acG>acA	p.T34T		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CGGGGCTGACGTGCATCGTTT	0.572																																						ENST00000396275.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(100-102)acG>acA		MAS-related GPR, member X3							160.0	154.0	156.0					11																	18158851		2200	4293	6493	SO:0001819	synonymous_variant	117195					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18158851G>A		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.102G>A	11.37:g.18158851G>A							p.T34T	NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN			3	463	+			34					B0M0L1|Q8TDE0|Q8TDE1	Silent	SNP	ENST00000396275.2	37	c.102G>A	CCDS7830.1																																																																																				0.572	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		16	103	0	0	0	0.175082	0	16	103				
NCKAP1	10787	broad.mit.edu	37	2	183845983	183845983	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:183845983C>G	ENST00000361354.4	-	13	1702	c.1330G>C	c.(1330-1332)Gaa>Caa	p.E444Q	NCKAP1_ENST00000360982.2_Missense_Mutation_p.E450Q	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	444					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TGCACGAGTTCATTGAGGACA	0.383																																						ENST00000360982.2																			0				breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45						c.(1348-1350)Gaa>Caa		NCK-associated protein 1							170.0	150.0	157.0					2																	183845983		2203	4300	6503	SO:0001583	missense	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183845983C>G	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.1330G>C	2.37:g.183845983C>G	ENSP00000355348:p.Glu444Gln					NCKAP1_ENST00000361354.3_Missense_Mutation_p.E444Q	p.E450Q	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		14	2106	-			444					O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	c.1348G>C	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041195	0.55003	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.31769	1.48;1.48	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.34629	0.0904	N	0.05574	-0.02	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.969	T	0.31861	-0.9928	10	0.21014	T	0.42	-13.6286	18.2679	0.90057	0.0:1.0:0.0:0.0	.	444;450	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	Q	444;450	ENSP00000355348:E444Q;ENSP00000354251:E450Q	ENSP00000354251:E450Q	E	-	1	0	NCKAP1	183554228	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.684000	0.84104	2.392000	0.81423	0.555000	0.69702	GAA		0.383	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		5	110	0	0	0	0.014758	0	5	110				
DSCAM	1826	broad.mit.edu	37	21	41496129	41496129	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr21:41496129T>C	ENST00000400454.1	-	20	4166	c.3689A>G	c.(3688-3690)tAt>tGt	p.Y1230C		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1230	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TACTGTGGGATAGGGGTGGGA	0.552																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(3688-3690)tAt>tGt		Down syndrome cell adhesion molecule							189.0	194.0	192.0					21																	41496129		2013	4170	6183	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41496129T>C	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.3689A>G	21.37:g.41496129T>C	ENSP00000383303:p.Tyr1230Cys						p.Y1230C	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			20	4166	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1230			Fibronectin type-III 4.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.3689A>G	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	T	19.88	3.909717	0.72983	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.56941	0.43;0.43	5.2	5.2	0.72013	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.130399	0.53938	D	0.000051	T	0.48502	0.1503	N	0.12182	0.205	0.50632	D	0.99988	D	0.60160	0.987	P	0.54372	0.75	T	0.56263	-0.8008	10	0.56958	D	0.05	.	15.0468	0.71833	0.0:0.0:0.0:1.0	.	1230	O60469	DSCAM_HUMAN	C	1230;982	ENSP00000383303:Y1230C;ENSP00000385342:Y982C	ENSP00000383303:Y1230C	Y	-	2	0	DSCAM	40417999	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	7.864000	0.87037	1.937000	0.56155	0.460000	0.39030	TAT		0.552	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		15	133	0	0	0	0.132662	0	15	133				
ATP1B4	23439	broad.mit.edu	37	X	119509241	119509241	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chrX:119509241C>G	ENST00000218008.3	+	5	634	c.577C>G	c.(577-579)Ctt>Gtt	p.L193V	ATP1B4_ENST00000361319.3_Missense_Mutation_p.L189V|ATP1B4_ENST00000539306.1_Missense_Mutation_p.L150V	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	193					monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						TAATGACAGTCTTCAAGAGGA	0.488																																						ENST00000218008.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(577-579)Ctt>Gtt		ATPase, Na+/K+ transporting, beta 4 polypeptide							108.0	100.0	103.0					X																	119509241		2203	4300	6503	SO:0001583	missense	23439				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	g.chrX:119509241C>G	AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892		"""ATPases / P-type"""	808	protein-coding gene	gene with protein product	"""Na,K-ATPase beta m-subunit"""		"""ATPase, (Na+)/K+ transporting, beta 4 polypeptide"""			10456317, 17592128	Standard	NM_012069		Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.577C>G	X.37:g.119509241C>G	ENSP00000218008:p.Leu193Val					ATP1B4_ENST00000539306.1_Missense_Mutation_p.L150V|ATP1B4_ENST00000361319.3_Missense_Mutation_p.L189V	p.L193V	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN			5	634	+			193					Q17RR0|Q9UN41	Missense_Mutation	SNP	ENST00000218008.3	37	c.577C>G	CCDS48158.1	.	.	.	.	.	.	.	.	.	.	C	8.031	0.761771	0.15914	.	.	ENSG00000101892	ENST00000218008;ENST00000361319;ENST00000539306	T;T;T	0.28666	1.6;1.6;1.6	5.57	4.63	0.57726	.	0.620701	0.17680	N	0.165670	T	0.15609	0.0376	N	0.11313	0.125	0.32585	N	0.52799	B;B;B;B	0.31519	0.327;0.052;0.327;0.28	B;B;B;B	0.31686	0.134;0.055;0.134;0.082	T	0.14282	-1.0478	10	0.27082	T	0.32	-13.9477	8.4025	0.32594	0.2426:0.6196:0.1378:0.0	.	150;158;193;189	B7ZKW0;B7ZKV9;Q9UN42;Q9UN42-2	.;.;AT1B4_HUMAN;.	V	193;189;150	ENSP00000218008:L193V;ENSP00000355346:L189V;ENSP00000443334:L150V	ENSP00000218008:L193V	L	+	1	0	ATP1B4	119393269	0.771000	0.28555	1.000000	0.80357	0.997000	0.91878	0.320000	0.19540	2.328000	0.79073	0.513000	0.50165	CTT		0.488	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058095.1	NM_001142447		10	80	0	0	0	0.058154	0	10	80				
TMEM132D	121256	broad.mit.edu	37	12	129569218	129569218	+	Silent	SNP	G	G	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr12:129569218G>T	ENST00000422113.2	-	6	1799	c.1473C>A	c.(1471-1473)gtC>gtA	p.V491V	TMEM132D_ENST00000389441.4_Silent_p.V29V	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	491					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTTTCCCATTGACAAAGACGT	0.542																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(1471-1473)gtC>gtA		transmembrane protein 132D							109.0	86.0	94.0					12																	129569218		2203	4300	6503	SO:0001819	synonymous_variant	121256					integral to membrane		g.chr12:129569218G>T	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1473C>A	12.37:g.129569218G>T						TMEM132D_ENST00000389441.4_Silent_p.V29V	p.V491V	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	6	1799	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	491					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	c.1473C>A	CCDS9266.1																																																																																				0.542	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		7	28	1	0	2.0095e-06	0.029380	2.18316e-06	7	28				
SLC5A4	6527	broad.mit.edu	37	22	32650129	32650129	+	Splice_Site	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr22:32650129C>T	ENST00000266086.4	-	2	218	c.207G>A	c.(205-207)ccG>ccA	p.P69P	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	69					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATCCACTTACCGGCCACCAGG	0.522																																						ENST00000266086.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.e2+1		solute carrier family 5 (glucose activated ion channel), member 4							93.0	82.0	86.0					22																	32650129		2203	4300	6503	SO:0001630	splice_region_variant	6527				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	g.chr22:32650129C>T	U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"""Solute carriers"""	11039	protein-coding gene	gene with protein product			"""solute carrier family 5 (low affinity glucose cotransporter), member 4"""			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.207+1G>A	22.37:g.32650129C>T						RP1-90G24.10_ENST00000434942.1_RNA	p.P69_splice	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN			2	218	-			69					O15279	Splice_Site	SNP	ENST00000266086.4	37	c.207_splice	CCDS13903.1																																																																																				0.522	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315724.1	NM_014227	Silent	29	35	0	0	0	0.153744	0	29	35				
SECISBP2	79048	broad.mit.edu	37	9	91953402	91953402	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr9:91953402A>T	ENST00000375807.3	+	8	1190	c.1119A>T	c.(1117-1119)gaA>gaT	p.E373D	SECISBP2_ENST00000534113.2_Missense_Mutation_p.E305D|SECISBP2_ENST00000339901.4_Missense_Mutation_p.E300D	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	373					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						GTGACCTTGAACAAAATGAAG	0.333																																						ENST00000375807.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						c.(1117-1119)gaA>gaT		SECIS binding protein 2							64.0	68.0	67.0					9																	91953402		2202	4299	6501	SO:0001583	missense	79048				translation	nucleus	mRNA 3'-UTR binding	g.chr9:91953402A>T	AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.1119A>T	9.37:g.91953402A>T	ENSP00000364965:p.Glu373Asp					SECISBP2_ENST00000534113.2_Missense_Mutation_p.E305D|SECISBP2_ENST00000339901.4_Missense_Mutation_p.E300D	p.E373D	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN			8	1190	+			373					F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	ENST00000375807.3	37	c.1119A>T	CCDS6683.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.10|17.10	3.302784|3.302784	0.60195|0.60195	.|.	.|.	ENSG00000187742|ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000339901;ENST00000534113;ENST00000425851|ENST00000440898	T;T;T;T|.	0.73897|.	-0.77;-0.79;-0.77;0.81|.	4.79|4.79	-3.13|-3.13	0.05266|0.05266	.|.	0.204155|.	0.42172|.	D|.	0.000754|.	T|T	0.29389|0.29389	0.0732|0.0732	N|N	0.20986|0.20986	0.625|0.625	0.29460|0.29460	N|N	0.857841|0.857841	B;B;B;B;B|.	0.29115|.	0.149;0.149;0.233;0.149;0.233|.	B;B;B;B;B|.	0.25987|.	0.029;0.029;0.065;0.029;0.065|.	T|T	0.43798|0.43798	-0.9369|-0.9369	10|6	0.33940|0.87932	T|D	0.23|0	-25.389|-25.389	6.7629|6.7629	0.23550|0.23550	0.6204:0.1327:0.2469:0.0|0.6204:0.1327:0.2469:0.0	.|.	380;372;300;373;305|.	Q59H19;B4DZC7;Q96T21-2;Q96T21;F8W892|.	.;.;.;SEBP2_HUMAN;.|.	D|I	373;379;300;305;170|53	ENSP00000364965:E373D;ENSP00000364959:E300D;ENSP00000436650:E305D;ENSP00000414288:E170D|.	ENSP00000364959:E300D|ENSP00000411573:N53I	E|N	+|+	3|2	2|0	SECISBP2|SECISBP2	91143222|91143222	0.998000|0.998000	0.40836|0.40836	0.961000|0.961000	0.40146|0.40146	0.889000|0.889000	0.51656|0.51656	0.240000|0.240000	0.18042|0.18042	-0.308000|-0.308000	0.08792|0.08792	0.528000|0.528000	0.53228|0.53228	GAA|AAC		0.333	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077		8	60	0	0	0	0.038147	0	8	60				
TRBV7-8	28590	broad.mit.edu	37	7	142099704	142099704	+	RNA	SNP	T	T	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr7:142099704T>C	ENST00000390359.3	-	0	136									T cell receptor beta variable 7-8																		CTGTCCTCTCTTTGCGACTTT	0.473																																						ENST00000390359.3																			0																				63.0	62.0	62.0					7																	142099704		1881	4119	6000			28590							g.chr7:142099704T>C	M11953		7q34	2012-02-07			ENSG00000229200			"""T cell receptors / TRB locus"""	12242	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV78, TCRBV6S2A1N1T, TCRBV7S8			OTTHUMG00000158875		7.37:g.142099704T>C														0	136	-									RNA	SNP	ENST00000390359.3	37																																																																																						0.473	TRBV7-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352483.1	NG_001333		9	33	0	0	0	0.069234	0	9	33				
PTPRD	5789	broad.mit.edu	37	9	8507393	8507393	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr9:8507393C>G	ENST00000381196.4	-	19	2128	c.1585G>C	c.(1585-1587)Gaa>Caa	p.E529Q	PTPRD_ENST00000540109.1_Missense_Mutation_p.E529Q|PTPRD_ENST00000356435.5_Missense_Mutation_p.E529Q|PTPRD_ENST00000397606.3_Missense_Mutation_p.E519Q|PTPRD_ENST00000397611.3_Missense_Mutation_p.E526Q|PTPRD_ENST00000537002.1_Missense_Mutation_p.E526Q|PTPRD_ENST00000360074.4_Missense_Mutation_p.E516Q|PTPRD_ENST00000358503.5_Missense_Mutation_p.E516Q|PTPRD_ENST00000355233.5_Missense_Mutation_p.E529Q|PTPRD_ENST00000486161.1_Missense_Mutation_p.E529Q|PTPRD_ENST00000397617.3_Missense_Mutation_p.E519Q	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	529	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATACTTGTTTCAGACTCAGGT	0.448										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(1585-1587)Gaa>Caa		protein tyrosine phosphatase, receptor type, D							217.0	198.0	204.0					9																	8507393		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8507393C>G	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1585G>C	9.37:g.8507393C>G	ENSP00000370593:p.Glu529Gln	TSP Lung(15;0.13)				PTPRD_ENST00000356435.5_Missense_Mutation_p.E529Q|PTPRD_ENST00000355233.5_Missense_Mutation_p.E529Q|PTPRD_ENST00000397606.3_Missense_Mutation_p.E519Q|PTPRD_ENST00000397611.3_Missense_Mutation_p.E526Q|PTPRD_ENST00000397617.3_Missense_Mutation_p.E519Q|PTPRD_ENST00000540109.1_Missense_Mutation_p.E529Q|PTPRD_ENST00000360074.4_Missense_Mutation_p.E516Q|PTPRD_ENST00000537002.1_Missense_Mutation_p.E526Q|PTPRD_ENST00000358503.5_Missense_Mutation_p.E516Q|PTPRD_ENST00000486161.1_Missense_Mutation_p.E529Q	p.E529Q	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	19	2128	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	529			Fibronectin type-III 3.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.1585G>C	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410899	0.83340	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32	6.06	6.06	0.98353	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.73729	0.3624	L	0.54965	1.715	0.80722	D	1	P;P;P;B;B;P;D;D;D	0.76494	0.956;0.862;0.853;0.327;0.067;0.712;0.998;0.999;0.996	P;P;P;B;B;P;D;D;D	0.76071	0.906;0.854;0.646;0.425;0.039;0.535;0.964;0.987;0.986	T	0.68796	-0.5314	9	.	.	.	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	519;523;529;529;526;526;516;529;529	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	Q	529;529;516;516;529;519;526;526;529;529;529;519	ENSP00000370593:E529Q;ENSP00000348812:E529Q;ENSP00000353187:E516Q;ENSP00000351293:E516Q;ENSP00000347373:E529Q;ENSP00000380741:E519Q;ENSP00000380735:E526Q;ENSP00000440515:E526Q;ENSP00000438164:E529Q;ENSP00000417093:E529Q;ENSP00000380731:E519Q	.	E	-	1	0	PTPRD	8497393	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.456000	0.80751	2.880000	0.98712	0.650000	0.86243	GAA		0.448	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			7	261	0	0	0	0.038147	0	7	261				
MS4A15	219995	broad.mit.edu	37	11	60543106	60543106	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr11:60543106G>A	ENST00000405633.3	+	7	720	c.641G>A	c.(640-642)aGc>aAc	p.S214N	MS4A15_ENST00000528170.1_Missense_Mutation_p.S173N|MS4A15_ENST00000337911.4_Missense_Mutation_p.S121N	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	214						integral component of membrane (GO:0016021)				breast(1)|large_intestine(2)|lung(3)	6						AACGCCTTCAGCGCAGACTTC	0.577											OREG0020991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000405633.3																			0				breast(1)|large_intestine(2)|lung(3)	6						c.(640-642)aGc>aAc		membrane-spanning 4-domains, subfamily A, member 15							144.0	147.0	146.0					11																	60543106		2203	4300	6503	SO:0001583	missense	219995					integral to membrane	receptor activity	g.chr11:60543106G>A	AY584608	CCDS7991.1, CCDS44617.1, CCDS60802.1	11q12.2	2008-03-25							28573	protein-coding gene	gene with protein product							Standard	NM_001098835		Approved		uc009ynf.1	Q8N5U1		ENST00000405633.3:c.641G>A	11.37:g.60543106G>A	ENSP00000386022:p.Ser214Asn		OREG0020991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1046	MS4A15_ENST00000528170.1_Missense_Mutation_p.S173N|MS4A15_ENST00000337911.4_Missense_Mutation_p.S121N	p.S214N	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN			7	720	+			214					A9UJY6|A9UJY7|F2Z2J5	Missense_Mutation	SNP	ENST00000405633.3	37	c.641G>A	CCDS44617.1	.	.	.	.	.	.	.	.	.	.	G	7.611	0.674789	0.14841	.	.	ENSG00000166961	ENST00000528170;ENST00000337911;ENST00000405633	T;T;T	0.14766	2.48;2.52;2.94	5.25	4.34	0.51931	.	0.648678	0.16274	N	0.221645	T	0.12475	0.0303	L	0.57536	1.79	0.20703	N	0.999865	B;B	0.31383	0.321;0.115	B;B	0.23275	0.045;0.045	T	0.21008	-1.0258	10	0.17369	T	0.5	-20.6529	9.7942	0.40724	0.0954:0.0:0.9046:0.0	.	173;214	F2Z2J5;Q8N5U1	.;M4A15_HUMAN	N	173;121;214	ENSP00000434165:S173N;ENSP00000338692:S121N;ENSP00000386022:S214N	ENSP00000338692:S121N	S	+	2	0	MS4A15	60299682	0.972000	0.33761	0.996000	0.52242	0.260000	0.26232	2.068000	0.41471	1.206000	0.43276	-0.148000	0.13756	AGC		0.577	MS4A15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395618.1			45	156	0	0	0	0.139131	0	45	156				
PCDHA1	56147	broad.mit.edu	37	5	140167440	140167440	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr5:140167440C>T	ENST00000504120.2	+	1	1565	c.1565C>T	c.(1564-1566)cCc>cTc	p.P522L	PCDHA1_ENST00000378133.3_Missense_Mutation_p.P522L|PCDHA1_ENST00000394633.3_Missense_Mutation_p.P522L	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	522	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACTGCAGCCCCTGGACCAC	0.677																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(1564-1566)cCc>cTc									76.0	79.0	78.0					5																	140167440		2203	4300	6503	SO:0001583	missense	56147							g.chr5:140167440C>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1565C>T	5.37:g.140167440C>T	ENSP00000420840:p.Pro522Leu					PCDHA1_ENST00000378133.3_Missense_Mutation_p.P522L|PCDHA1_ENST00000394633.3_Missense_Mutation_p.P522L	p.P522L	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1565	+								O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1565C>T	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	c	17.60	3.430940	0.62844	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.56275	0.47;0.47;0.47	3.63	3.63	0.41609	Cadherin (5);Cadherin-like (1);	0.000000	0.41194	U	0.000928	T	0.63896	0.2550	L	0.45698	1.435	0.30465	N	0.773863	D;P;D	0.65815	0.99;0.931;0.995	P;B;D	0.63957	0.734;0.396;0.92	T	0.67711	-0.5600	10	0.87932	D	0	.	15.7182	0.77685	0.0:1.0:0.0:0.0	.	522;522;522	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	L	522	ENSP00000420840:P522L;ENSP00000378129:P522L;ENSP00000367373:P522L	ENSP00000367373:P522L	P	+	2	0	PCDHA1	140147624	0.844000	0.29557	0.994000	0.49952	0.833000	0.47200	4.552000	0.60747	1.768000	0.52137	0.549000	0.68633	CCC		0.677	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		39	35	0	0	0	0.074837	0	39	35				
COL24A1	255631	broad.mit.edu	37	1	86361734	86361734	+	Silent	SNP	A	A	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:86361734A>G	ENST00000370571.2	-	30	3213	c.2847T>C	c.(2845-2847)gaT>gaC	p.D949D	COL24A1_ENST00000436319.1_Silent_p.D949D	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	949	Collagen-like 8.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTTTTCCTTGATCTCCTTTTT	0.318																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(2845-2847)gaT>gaC		collagen, type XXIV, alpha 1							93.0	85.0	87.0					1																	86361734		1827	4088	5915	SO:0001819	synonymous_variant	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86361734A>G	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.2847T>C	1.37:g.86361734A>G						COL24A1_ENST00000436319.1_Silent_p.D949D	p.D949D	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	30	3213	-			949			Collagen-like 8.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Silent	SNP	ENST00000370571.2	37	c.2847T>C	CCDS41353.1																																																																																				0.318	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		10	26	0	0	0	0.069234	0	10	26				
POGK	57645	broad.mit.edu	37	1	166818317	166818317	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:166818317G>A	ENST00000367875.1	+	5	861	c.501G>A	c.(499-501)ggG>ggA	p.G167G	POGK_ENST00000367876.4_Silent_p.G167G|POGK_ENST00000537173.1_Silent_p.G49G|POGK_ENST00000536514.1_Silent_p.G82G			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	167					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						GGAGTGAGGGGTACCCCTTCT	0.577																																					GBM(76;192 1530 30153 48742)	ENST00000367875.1																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						c.(499-501)ggG>ggA		pogo transposable element with KRAB domain							104.0	93.0	96.0					1																	166818317		2203	4300	6503	SO:0001819	synonymous_variant	57645				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr1:166818317G>A	AB040946	CCDS1254.1	1q23.2	2013-01-08			ENSG00000143157	ENSG00000143157		"""-"""	18800	protein-coding gene	gene with protein product	"""KRAB box domain containing 2"""						Standard	NM_017542		Approved	KIAA15131, LST003, BASS2, KRBOX2	uc001gdt.1	Q9P215	OTTHUMG00000034325	ENST00000367875.1:c.501G>A	1.37:g.166818317G>A						POGK_ENST00000537173.1_Silent_p.G49G|POGK_ENST00000536514.1_Silent_p.G82G|POGK_ENST00000367876.4_Silent_p.G167G	p.G167G			Q9P215	POGK_HUMAN			5	861	+			167					Q5TIJ1|Q8TE07	Silent	SNP	ENST00000367875.1	37	c.501G>A	CCDS1254.1																																																																																				0.577	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082888.1	NM_017542		9	54	0	0	0	0.058154	0	9	54				
TRPV2	51393	broad.mit.edu	37	17	16342356	16342356	+	IGR	SNP	C	C	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr17:16342356C>G	ENST00000338560.7	+	0	2808				C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000475953.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000384229.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000391079.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|RP11-138I1.3_ENST00000585048.1_lincRNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000365172.1_RNA	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GTGACCTTTTCATTCCCGTTG	0.522																																						ENST00000481898.1																			0																																																	SO:0001628	intergenic_variant	125144							g.chr17:16342356C>G	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989		17.37:g.16342356C>G						C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA		NR_027170.1						0	56	+								A6NML2|A8K0Z0|Q9Y670	RNA	SNP	ENST00000338560.7	37		CCDS32576.1																																																																																				0.522	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		3	13	0	0	0	0.115264	0	3	13				
FREM1	158326	broad.mit.edu	37	9	14842546	14842546	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr9:14842546G>A	ENST00000380880.3	-	9	2289	c.1506C>T	c.(1504-1506)ggC>ggT	p.G502G	FREM1_ENST00000380881.4_Silent_p.G503G|FREM1_ENST00000422223.2_Silent_p.G502G			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	502					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGCTGTGATGGCCATCAAATA	0.507																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1507-1509)ggC>ggT		FRAS1 related extracellular matrix 1							135.0	138.0	137.0					9																	14842546		2046	4208	6254	SO:0001819	synonymous_variant	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14842546G>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1506C>T	9.37:g.14842546G>A						FREM1_ENST00000422223.2_Silent_p.G502G|FREM1_ENST00000380880.3_Silent_p.G502G	p.G503G			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	10	2324	-			502					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	ENST00000380880.3	37	c.1509C>T	CCDS47952.1																																																																																				0.507	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		10	278	0	0	0	0.093190	0	10	278				
F5	2153	broad.mit.edu	37	1	169511310	169511310	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:169511310A>C	ENST00000367797.3	-	13	3219	c.3018T>G	c.(3016-3018)caT>caG	p.H1006Q	F5_ENST00000367796.3_Missense_Mutation_p.H1011Q	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1006	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GTAGAGATTTATGTCTAACTC	0.463																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(3031-3033)caT>caG		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						150.0	161.0	158.0					1																	169511310		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169511310A>C	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3018T>G	1.37:g.169511310A>C	ENSP00000356771:p.His1006Gln					F5_ENST00000367797.3_Missense_Mutation_p.H1006Q	p.H1011Q			P12259	FA5_HUMAN			13	3234	-	all_hematologic(923;0.208)		1006			B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.3033T>G	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	A	10.99	1.507037	0.27036	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.19105	2.17;2.17	5.81	-3.28	0.05033	.	1.175700	0.06164	N	0.676471	T	0.03220	0.0094	L	0.37630	1.12	0.24514	N	0.994199	B	0.18863	0.031	B	0.15870	0.014	T	0.38802	-0.9644	9	0.12430	T	0.62	-2.2365	1.2318	0.01945	0.2797:0.2932:0.2849:0.1423	.	1006	P12259	FA5_HUMAN	Q	1006;1011	ENSP00000356771:H1006Q;ENSP00000356770:H1011Q	ENSP00000356770:H1011Q	H	-	3	2	F5	167777934	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.615000	0.05597	-0.118000	0.11851	-0.421000	0.06004	CAT		0.463	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		17	209	0	0	0	0.160694	0	17	209				
ZNF142	7701	broad.mit.edu	37	2	219507041	219507041	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:219507041G>C	ENST00000449707.1	-	8	4619	c.4198C>G	c.(4198-4200)Ctg>Gtg	p.L1400V	ZNF142_ENST00000411696.2_Missense_Mutation_p.L1400V	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1400					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGCTGTTCCAGGTAGTGCTTT	0.612																																					Colon(170;867 1942 8995 15834 18053)	ENST00000411696.2																			0				breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(4198-4200)Ctg>Gtg		zinc finger protein 142							61.0	69.0	66.0					2																	219507041		2123	4241	6364	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219507041G>C	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.4198C>G	2.37:g.219507041G>C	ENSP00000408643:p.Leu1400Val					ZNF142_ENST00000449707.1_Missense_Mutation_p.L1400V	p.L1400V			P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	7	4977	-		Renal(207;0.0474)	1400					Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.4198C>G	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	g	13.33	2.203576	0.38905	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.12361	2.69;2.69	5.62	2.73	0.32206	Zinc finger, C2H2-like (1);	0.211384	0.41712	D	0.000829	T	0.12944	0.0314	N	0.14661	0.345	0.33195	D	0.551371	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.35649	-0.9780	10	0.12766	T	0.61	-14.6604	2.2505	0.04042	0.2436:0.2126:0.4278:0.116	.	1400;1237	P52746;A8MWU9	ZN142_HUMAN;.	V	1400	ENSP00000408643:L1400V;ENSP00000398798:L1400V	ENSP00000398798:L1400V	L	-	1	2	ZNF142	219215285	0.179000	0.23135	1.000000	0.80357	0.992000	0.81027	-0.546000	0.06062	0.393000	0.25203	-0.150000	0.13652	CTG		0.612	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		17	43	0	0	0	0.160694	0	17	43				
PSMB4	5692	broad.mit.edu	37	1	151373789	151373789	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:151373789C>A	ENST00000290541.6	+	5	705	c.651C>A	c.(649-651)tgC>tgA	p.C217*		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	217					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 inflammatory response to antigenic stimulus (GO:0002862)|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)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	lipopolysaccharide binding (GO:0001530)|threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TAGAACGCTGCATGCGAGTGC	0.577																																						ENST00000290541.6																			0				endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14						c.(649-651)tgC>tgA		proteasome (prosome, macropain) subunit, beta type, 4							131.0	130.0	130.0					1																	151373789		2203	4300	6503	SO:0001587	stop_gained	5692				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	threonine-type endopeptidase activity	g.chr1:151373789C>A	D26600	CCDS996.1	1q21	2008-02-05			ENSG00000159377	ENSG00000159377		"""Proteasome (prosome, macropain) subunits"""	9541	protein-coding gene	gene with protein product		602177				7918633	Standard	NM_002796		Approved	HN3, PROS26	uc001eyc.1	P28070	OTTHUMG00000012494	ENST00000290541.6:c.651C>A	1.37:g.151373789C>A	ENSP00000290541:p.Cys217*						p.C217*	NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		5	705	+	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		217					B2R9L3|P31148|Q5SZS5|Q6IBI4|Q969L6	Nonsense_Mutation	SNP	ENST00000290541.6	37	c.651C>A	CCDS996.1	.	.	.	.	.	.	.	.	.	.	C	35	5.588284	0.96590	.	.	ENSG00000159377	ENST00000290541	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.081	16.1163	0.81306	0.0:1.0:0.0:0.0	.	.	.	.	X	217	.	ENSP00000290541:C217X	C	+	3	2	PSMB4	149640413	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.572000	0.45999	2.585000	0.87301	0.563000	0.77884	TGC		0.577	PSMB4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034885.1	NM_002796		25	146	1	0	3.08376e-08	0.083992	3.39214e-08	25	146				
EYA1	2138	broad.mit.edu	37	8	72211931	72211931	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr8:72211931C>T	ENST00000340726.3	-	8	1220	c.581G>A	c.(580-582)gGa>gAa	p.G194E	EYA1_ENST00000388742.4_Missense_Mutation_p.G194E|EYA1_ENST00000388743.2_Missense_Mutation_p.G193E|EYA1_ENST00000419131.1_Missense_Mutation_p.G189E|EYA1_ENST00000388740.3_Missense_Mutation_p.G161E|EYA1_ENST00000303824.7_Missense_Mutation_p.G188E|EYA1_ENST00000388741.2_Missense_Mutation_p.G160E	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	194					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TGTATATATTCCTGATGATGT	0.303																																						ENST00000340726.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44						c.(580-582)gGa>gAa		eyes absent homolog 1 (Drosophila)							109.0	117.0	114.0					8																	72211931		2202	4298	6500	SO:0001583	missense	2138				double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr8:72211931C>T	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.581G>A	8.37:g.72211931C>T	ENSP00000342626:p.Gly194Glu					EYA1_ENST00000419131.1_Missense_Mutation_p.G189E|EYA1_ENST00000388740.3_Missense_Mutation_p.G161E|EYA1_ENST00000388742.4_Missense_Mutation_p.G194E|EYA1_ENST00000388741.2_Missense_Mutation_p.G160E|EYA1_ENST00000303824.7_Missense_Mutation_p.G188E|EYA1_ENST00000388743.2_Missense_Mutation_p.G193E	p.G194E	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		8	1220	-	Breast(64;0.046)		194					A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	c.581G>A	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.994339	0.74703	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.91894	-2.61;-2.61;-2.93;-2.6;-2.93;-2.61;-2.56	5.41	4.52	0.55395	.	0.047496	0.85682	D	0.000000	D	0.94814	0.8325	L	0.58810	1.83	0.80722	D	1	D;D;P;D;P	0.89917	1.0;0.975;0.917;1.0;0.917	D;P;P;D;P	0.97110	1.0;0.804;0.713;1.0;0.713	D	0.94025	0.7296	10	0.36615	T	0.2	-13.0932	16.3783	0.83418	0.0:0.8678:0.1322:0.0	.	188;121;161;194;189	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	E	194;194;162;161;188;160;193;189	ENSP00000373394:G194E;ENSP00000342626:G194E;ENSP00000373392:G161E;ENSP00000303221:G188E;ENSP00000373393:G160E;ENSP00000373395:G193E;ENSP00000410176:G189E	ENSP00000303221:G188E	G	-	2	0	EYA1	72374485	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	5.728000	0.68531	1.389000	0.46526	-0.291000	0.09656	GGA		0.303	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		37	55	0	0	0	0.069456	0	37	55				
ZNF383	163087	broad.mit.edu	37	19	37726884	37726884	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr19:37726884T>G	ENST00000589413.1	+	7	723	c.140T>G	c.(139-141)cTt>cGt	p.L47R	ZNF383_ENST00000352998.3_Missense_Mutation_p.L47R|ZNF383_ENST00000590503.1_Missense_Mutation_p.L47R			Q8NA42	ZN383_HUMAN	zinc finger protein 383	47	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGAGCAGGACTTTACACTCCT	0.483																																						ENST00000589413.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15						c.(139-141)cTt>cGt		zinc finger protein 383							117.0	109.0	112.0					19																	37726884		2203	4300	6503	SO:0001583	missense	163087				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr19:37726884T>G	AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283		"""Zinc fingers, C2H2-type"", ""-"""	18609	protein-coding gene	gene with protein product							Standard	NM_152604		Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.140T>G	19.37:g.37726884T>G	ENSP00000464871:p.Leu47Arg					ZNF383_ENST00000590503.1_Missense_Mutation_p.L47R|ZNF383_ENST00000352998.3_Missense_Mutation_p.L47R	p.L47R			Q8NA42	ZN383_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		7	723	+			47			KRAB.		Q6X2C7	Missense_Mutation	SNP	ENST00000589413.1	37	c.140T>G	CCDS12501.1	.	.	.	.	.	.	.	.	.	.	T	8.127	0.782189	0.16189	.	.	ENSG00000188283	ENST00000352998	T	0.00902	5.56	3.39	2.37	0.29283	Krueppel-associated box (3);	1.004860	0.08030	N	0.993431	T	0.02193	0.0068	M	0.78456	2.415	0.25152	N	0.990411	B	0.31009	0.303	B	0.37091	0.241	T	0.42068	-0.9473	9	.	.	.	.	6.89	0.24224	0.0:0.1168:0.0:0.8832	.	47	Q8NA42	ZN383_HUMAN	R	47	ENSP00000340132:L47R	.	L	+	2	0	ZNF383	42418724	0.001000	0.12720	0.877000	0.34402	0.170000	0.22686	0.444000	0.21661	0.675000	0.31264	0.460000	0.39030	CTT		0.483	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458141.1	NM_152604		9	153	0	0	0	0.047766	0	9	153				
PXDN	7837	broad.mit.edu	37	2	1653341	1653341	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:1653341G>A	ENST00000252804.4	-	17	2261	c.2211C>T	c.(2209-2211)ttC>ttT	p.F737F		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	737					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.F737L(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ACTTCTGGTGGAAGCACATGT	0.612																																						ENST00000252804.4																			1	Substitution - Missense(1)	p.F737L(1)	lung(1)	breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(2209-2211)ttC>ttT		peroxidasin homolog (Drosophila)							105.0	112.0	109.0					2																	1653341		2073	4201	6274	SO:0001819	synonymous_variant	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1653341G>A	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2211C>T	2.37:g.1653341G>A							p.F737F	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	2261	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	737					A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	c.2211C>T	CCDS46221.1																																																																																				0.612	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		24	87	0	0	0	0.069288	0	24	87				
SORCS1	114815	broad.mit.edu	37	10	108338906	108338906	+	Intron	SNP	T	T	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr10:108338906T>G	ENST00000263054.6	-	25	3379				SORCS1_ENST00000344440.6_Missense_Mutation_p.T1159P|SORCS1_ENST00000369698.1_Missense_Mutation_p.T694P	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1						neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CTTAGTTCAGTCTGAGGGACA	0.498																																						ENST00000344440.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(3475-3477)Act>Cct		sortilin-related VPS10 domain containing receptor 1							127.0	114.0	118.0					10																	108338906		2203	4300	6503	SO:0001627	intron_variant	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108338906T>G	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.3371+220A>C	10.37:g.108338906T>G						SORCS1_ENST00000369698.1_Missense_Mutation_p.T694P|SORCS1_ENST00000263054.6_Intron	p.T1159P	NM_001013031.2|NM_001206569.1|NM_001206571.1|NM_001206572.1	NP_001013049.1|NP_001193498.1|NP_001193500.1|NP_001193501.1	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	26	3474	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	0					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.3475A>C	CCDS7559.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.41|12.41	1.928872|1.928872	0.34002|0.34002	.|.	.|.	ENSG00000108018|ENSG00000108018	ENST00000452214|ENST00000369698;ENST00000344440	.|T;T	.|0.23147	.|1.92;2.5	5.78|5.78	-0.00596|-0.00596	0.14015|0.14015	.|.	.|1.523810	.|0.03700	.|N	.|0.248469	T|T	0.15739|0.15739	0.0379|0.0379	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	.|B;B	.|0.31040	.|0.0;0.305	.|B;B	.|0.31337	.|0.002;0.128	T|T	0.10941|0.10941	-1.0608|-1.0608	5|9	.|.	.|.	.|.	-0.4955|-0.4955	7.2461|7.2461	0.26124|0.26124	0.0:0.1271:0.3619:0.511|0.0:0.1271:0.3619:0.511	.|.	.|1159;1159	.|Q8WY21-3;Q8WY21-2	.|.;.	S|P	173|694;1159	.|ENSP00000358712:T694P;ENSP00000345964:T1159P	.|.	R|T	-|-	3|1	2|0	SORCS1|SORCS1	108328896|108328896	0.999000|0.999000	0.42202|0.42202	0.996000|0.996000	0.52242|0.52242	0.957000|0.957000	0.61999|0.61999	0.676000|0.676000	0.25247|0.25247	0.077000|0.077000	0.16863|0.16863	0.374000|0.374000	0.22700|0.22700	AGA|ACT		0.498	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		3	63	0	0	0	0.115264	0	3	63				
ZC3H14	79882	broad.mit.edu	37	14	89060979	89060979	+	Intron	SNP	G	G	A	rs573896026		TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr14:89060979G>A	ENST00000251038.5	+	10	1504				ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000555900.1_De_novo_Start_OutOfFrame|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000555755.1_Intron|ZC3H14_ENST00000393514.5_Intron|ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000406216.3_De_novo_Start_OutOfFrame|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000318308.6_De_novo_Start_OutOfFrame|ZC3H14_ENST00000336693.4_Intron	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14							cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						TTTTACTTTCGATGAAATAAC	0.323													G|||	1	0.000199681	0.0	0.0	5008	,	,		19365	0.001		0.0	False		,,,				2504	0.0					ENST00000555900.1																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21								zinc finger CCCH-type containing 14																																				SO:0001627	intron_variant	79882					cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding	g.chr14:89060979G>A	AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"""Zinc fingers, CCCH-type domain containing"""	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.1280-2099G>A	14.37:g.89060979G>A						ZC3H14_ENST00000555755.1_Intron|ZC3H14_ENST00000393514.5_Intron|ZC3H14_ENST00000336693.4_Intron|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000318308.6_De_novo_Start_OutOfFrame|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000251038.5_Intron|ZC3H14_ENST00000406216.3_De_novo_Start_OutOfFrame|ZC3H14_ENST00000359301.3_Intron				Q6PJT7	ZC3HE_HUMAN			0	221	+								A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Translation_Start_Site	SNP	ENST00000251038.5	37		CCDS32133.1																																																																																				0.323	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	NM_024824		4	22	0	0	0	0.150653	0	4	22				
PRCC	5546	broad.mit.edu	37	1	156756890	156756890	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:156756890C>T	ENST00000271526.4	+	3	1279	c.1007C>T	c.(1006-1008)cCt>cTt	p.P336L	PRCC_ENST00000353233.3_Missense_Mutation_p.P336L|PRCC_ENST00000491853.1_3'UTR	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	336					mitotic cell cycle checkpoint (GO:0007093)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)			PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTTGGATGCCTAAGCCTGGG	0.572			T	TFE3	papillary renal																																	ENST00000271526.4				Dom	yes		1	1q21.1	5546	T	papillary renal cell carcinoma (translocation-associated)			E	TFE3		papillary renal	PRCC/TFE3(25)	0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15						c.(1006-1008)cCt>cTt		papillary renal cell carcinoma (translocation-associated)							159.0	168.0	165.0					1																	156756890		2203	4300	6503	SO:0001583	missense	5546				cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	g.chr1:156756890C>T	X99720	CCDS1157.1	1q21.1	2008-02-05			ENSG00000143294	ENSG00000143294			9343	protein-coding gene	gene with protein product		179755				8872474	Standard	NM_005973		Approved	RCCP1	uc001fqa.3	Q92733	OTTHUMG00000041294	ENST00000271526.4:c.1007C>T	1.37:g.156756890C>T	ENSP00000271526:p.Pro336Leu					PRCC_ENST00000353233.3_Missense_Mutation_p.P336L|PRCC_ENST00000491853.1_3'UTR	p.P336L	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN			3	1279	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		336					A8K1F7|O00665|O00724|Q5SZ06	Missense_Mutation	SNP	ENST00000271526.4	37	c.1007C>T	CCDS1157.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.621728	0.66787	.	.	ENSG00000143294	ENST00000271526;ENST00000353233;ENST00000368201;ENST00000526188	T;T	0.44881	1.03;0.91	5.77	4.8	0.61643	.	0.242590	0.35936	N	0.002898	T	0.14184	0.0343	N	0.14661	0.345	0.47476	D	0.999437	B;P	0.44816	0.421;0.844	B;B	0.39904	0.112;0.313	T	0.02444	-1.1158	10	0.26408	T	0.33	-1.7669	12.4387	0.55614	0.2832:0.7168:0.0:0.0	.	336;336	A6NG79;Q92733	.;PRCC_HUMAN	L	336;336;280;75	ENSP00000271526:P336L;ENSP00000339300:P336L	ENSP00000271526:P336L	P	+	2	0	PRCC	155023514	0.889000	0.30405	1.000000	0.80357	0.953000	0.61014	1.650000	0.37292	2.727000	0.93392	0.655000	0.94253	CCT		0.572	PRCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098941.2	NM_005973		89	181	0	0	0	0.139131	0	89	181				
SLC17A7	57030	broad.mit.edu	37	19	49933917	49933917	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr19:49933917G>A	ENST00000221485.3	-	12	1713	c.1542C>T	c.(1540-1542)gaC>gaT	p.D514D	SLC17A7_ENST00000543531.1_Silent_p.D502D|SLC17A7_ENST00000600601.1_Silent_p.D447D	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	514					glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CAGCCAGCTGGTCATGGCCAA	0.627																																						ENST00000221485.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26						c.(1540-1542)gaC>gaT		solute carrier family 17 (vesicular glutamate transporter), member 7							56.0	47.0	50.0					19																	49933917		2203	4299	6502	SO:0001819	synonymous_variant	57030				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity	g.chr19:49933917G>A	AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"""Solute carriers"""	16704	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 1"""	605208	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"""			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.1542C>T	19.37:g.49933917G>A						SLC17A7_ENST00000543531.1_Silent_p.D502D|SLC17A7_ENST00000600601.1_Silent_p.D447D	p.D514D	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)	12	1713	-		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	514					B4DFR9|B4DG46|Q6PCD0	Silent	SNP	ENST00000221485.3	37	c.1542C>T	CCDS12764.1																																																																																				0.627	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2			11	47	0	0	0	0.093190	0	11	47				
LRP1B	53353	broad.mit.edu	37	2	141533735	141533735	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:141533735G>T	ENST00000389484.3	-	33	6403	c.5432C>A	c.(5431-5433)cCc>cAc	p.P1811H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1811					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAGGATGGTGGGGTTTCTTCC	0.408										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(5431-5433)cCc>cAc		low density lipoprotein receptor-related protein 1B							133.0	129.0	130.0					2																	141533735		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141533735G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5432C>A	2.37:g.141533735G>T	ENSP00000374135:p.Pro1811His	TSP Lung(27;0.18)					p.P1811H	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	33	6403	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1811					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.5432C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.134441	0.37630	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91068	-2.78	5.69	4.81	0.61882	Six-bladed beta-propeller, TolB-like (1);	0.231260	0.36167	N	0.002755	D	0.89125	0.6626	L	0.37697	1.125	0.36225	D	0.852247	D	0.63880	0.993	P	0.49999	0.628	D	0.91222	0.5007	10	0.45353	T	0.12	.	14.5661	0.68176	0.0702:0.0:0.9298:0.0	.	1811	Q9NZR2	LRP1B_HUMAN	H	1811;1749	ENSP00000374135:P1811H	ENSP00000374135:P1811H	P	-	2	0	LRP1B	141250205	1.000000	0.71417	0.962000	0.40283	0.328000	0.28507	3.105000	0.50314	1.416000	0.47057	0.591000	0.81541	CCC		0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		14	31	1	0	3.27435e-08	0.119110	3.57942e-08	14	31				
TRRAP	8295	broad.mit.edu	37	7	98580905	98580905	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr7:98580905G>A	ENST00000359863.4	+	59	9033	c.8824G>A	c.(8824-8826)Gaa>Aaa	p.E2942K	TRRAP_ENST00000355540.3_Missense_Mutation_p.E2924K|TRRAP_ENST00000446306.3_Missense_Mutation_p.E2924K	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2942	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCAAATCATCGAACTCCAGGA	0.517																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(8824-8826)Gaa>Aaa		transformation/transcription domain-associated protein							100.0	80.0	87.0					7																	98580905		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98580905G>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.8824G>A	7.37:g.98580905G>A	ENSP00000352925:p.Glu2942Lys					TRRAP_ENST00000355540.3_Missense_Mutation_p.E2924K|TRRAP_ENST00000446306.3_Missense_Mutation_p.E2924K	p.E2942K	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		59	9033	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		2942			FAT.		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.8824G>A	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	35	5.499387	0.96355	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	D;D	0.84442	-1.85;-1.85	5.49	5.49	0.81192	PIK-related kinase (1);PIK-related kinase, FAT (1);	0.000000	0.85682	D	0.000000	D	0.94515	0.8234	M	0.93106	3.38	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.95409	0.8496	10	0.87932	D	0	.	19.3593	0.94428	0.0:0.0:1.0:0.0	.	2924;2663;2942	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	K	2942;2924;2923	ENSP00000352925:E2942K;ENSP00000347733:E2924K	ENSP00000347733:E2924K	E	+	1	0	TRRAP	98418841	1.000000	0.71417	0.973000	0.42090	0.940000	0.58332	9.869000	0.99810	2.576000	0.86940	0.655000	0.94253	GAA		0.517	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		6	19	0	0	0	0.021553	0	6	19				
PRAMEF11	440560	broad.mit.edu	37	1	12887612	12887612	+	Missense_Mutation	SNP	T	T	C	rs60558629	byFrequency	TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:12887612T>C	ENST00000535591.1	-	3	440	c.245A>G	c.(244-246)cAt>cGt	p.H82R		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	82					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.H82R(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAGCACCCATGGGCCATAGC	0.488													.|||	6	0.00119808	0.0015	0.0014	5008	,	,		19834	0.001		0.002	False		,,,				2504	0.0					ENST00000535591.1																			1	Substitution - Missense(1)	p.H82R(1)	endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(244-246)cAt>cGt		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12887612T>C	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.245A>G	1.37:g.12887612T>C	ENSP00000439551:p.His82Arg						p.H82R	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	440	-			82						Missense_Mutation	SNP	ENST00000535591.1	37	c.245A>G	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	0.046	-1.266700	0.01433	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.14766	2.48;2.48	1.48	-2.96	0.05547	.	7.429810	0.00166	N	0.000002	T	0.07818	0.0196	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22034	-1.0228	10	0.24483	T	0.36	.	3.1667	0.06538	0.0:0.2637:0.2217:0.5146	rs60558629	82	O60813	PRA11_HUMAN	R	82;123;82	ENSP00000439551:H82R;ENSP00000391839:H82R	ENSP00000328783:H123R	H	-	2	0	PRAMEF11	12810199	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.061000	0.11693	-1.287000	0.02381	-0.610000	0.04054	CAT		0.488	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		6	258	0	0	0	0.021553	0	6	258				
SFI1	9814	broad.mit.edu	37	22	32011159	32011159	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr22:32011159C>G	ENST00000400288.2	+	29	3299	c.3194C>G	c.(3193-3195)tCa>tGa	p.S1065*	SFI1_ENST00000474741.1_3'UTR|SFI1_ENST00000400289.1_Nonsense_Mutation_p.S983*|SFI1_ENST00000540643.1_Nonsense_Mutation_p.S1010*|SFI1_ENST00000414585.1_Nonsense_Mutation_p.S912*|SFI1_ENST00000432498.1_Nonsense_Mutation_p.S1034*|SFI1_ENST00000443326.1_Nonsense_Mutation_p.S983*|SFI1_ENST00000443011.1_Nonsense_Mutation_p.S912*	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	1065					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						GGGGCCCTGTCAAGCGCCCCT	0.716																																						ENST00000432498.1																			0				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						c.(3100-3102)tCa>tGa		Sfi1 homolog, spindle assembly associated (yeast)							12.0	15.0	14.0					22																	32011159		1893	4077	5970	SO:0001587	stop_gained	9814				G2/M transition of mitotic cell cycle	centriole|cytosol		g.chr22:32011159C>G	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.3194C>G	22.37:g.32011159C>G	ENSP00000383145:p.Ser1065*					SFI1_ENST00000443326.1_Nonsense_Mutation_p.S983*|SFI1_ENST00000400289.1_Nonsense_Mutation_p.S983*|SFI1_ENST00000443011.1_Nonsense_Mutation_p.S912*|SFI1_ENST00000414585.1_Nonsense_Mutation_p.S912*|SFI1_ENST00000540643.1_Nonsense_Mutation_p.S1010*|SFI1_ENST00000400288.2_Nonsense_Mutation_p.S1065*|SFI1_ENST00000474741.1_3'UTR	p.S1034*	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN			28	3494	+			1065					A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Nonsense_Mutation	SNP	ENST00000400288.2	37	c.3101C>G	CCDS43004.1	.	.	.	.	.	.	.	.	.	.	C	36	5.829943	0.96996	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000421060;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288	.	.	.	4.21	0.96	0.19631	.	1.347250	0.04696	N	0.415029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	7.3967	0.26939	0.0:0.7233:0.0:0.2767	.	.	.	.	X	1034;1010;983;814;912;912;983;1065	.	ENSP00000383145:S1065X	S	+	2	0	SFI1	30341159	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.255000	0.08769	0.180000	0.19960	0.655000	0.94253	TCA		0.716	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		6	29	0	0	0	0.021553	0	6	29				
MYH8	4626	broad.mit.edu	37	17	10296168	10296168	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr17:10296168T>C	ENST00000403437.2	-	37	5537	c.5443A>G	c.(5443-5445)Atc>Gtc	p.I1815V	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1815					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGTTTCTGGATCTGCTTCTTC	0.552									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(5443-5445)Atc>Gtc		myosin, heavy chain 8, skeletal muscle, perinatal							137.0	137.0	137.0					17																	10296168		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10296168T>C		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.5443A>G	17.37:g.10296168T>C	ENSP00000384330:p.Ile1815Val					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.I1815V	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			37	5537	-			1815					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.5443A>G	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	T	8.718	0.913698	0.17907	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.81163	-1.46	5.06	5.06	0.68205	Myosin tail (1);	0.000000	0.42420	U	0.000703	T	0.69672	0.3137	L	0.28649	0.875	0.37433	D	0.914091	B	0.11235	0.004	B	0.20955	0.032	T	0.67577	-0.5635	10	0.29301	T	0.29	.	10.7631	0.46277	0.0:0.0:0.2878:0.7122	.	1815	P13535	MYH8_HUMAN	V	1815	ENSP00000384330:I1815V	ENSP00000252173:I1815V	I	-	1	0	MYH8	10236893	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.350000	0.20079	2.136000	0.66102	0.528000	0.53228	ATC		0.552	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		18	121	0	0	0	0.069288	0	18	121				
PXDN	7837	broad.mit.edu	37	2	1664729	1664729	+	Silent	SNP	T	T	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:1664729T>C	ENST00000252804.4	-	14	1811	c.1761A>G	c.(1759-1761)gcA>gcG	p.A587A		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	587	Ig-like C2-type 4.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GACCTGCGTCTGCAGGGCCAA	0.522																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(1759-1761)gcA>gcG		peroxidasin homolog (Drosophila)							96.0	101.0	99.0					2																	1664729		2036	4181	6217	SO:0001819	synonymous_variant	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1664729T>C	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.1761A>G	2.37:g.1664729T>C							p.A587A	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	14	1811	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	587			Ig-like C2-type 4.		A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	c.1761A>G	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	T	0.621	-0.821111	0.02755	.	.	ENSG00000130508	ENST00000433670	.	.	.	5.05	-9.78	0.00496	.	.	.	.	.	T	0.32852	0.0843	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42275	-0.9461	4	.	.	.	-30.8651	2.4367	0.04485	0.2024:0.0877:0.2831:0.4268	.	.	.	.	R	583	.	.	Q	-	2	0	PXDN	1643736	0.000000	0.05858	0.013000	0.15412	0.008000	0.06430	-2.237000	0.01200	-1.377000	0.02123	-1.223000	0.01593	CAG		0.522	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		10	32	0	0	0	0.058154	0	10	32				
PGBD1	84547	broad.mit.edu	37	6	28268549	28268549	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr6:28268549G>A	ENST00000405948.2	+	7	1338	c.918G>A	c.(916-918)agG>agA	p.R306R	PGBD1_ENST00000259883.3_Silent_p.R306R	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	306						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CTACTGAAAGGACAGTTGCAC	0.448																																						ENST00000405948.2																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(916-918)agG>agA		piggyBac transposable element derived 1							73.0	72.0	72.0					6																	28268549		2203	4300	6503	SO:0001819	synonymous_variant	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28268549G>A	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.918G>A	6.37:g.28268549G>A						PGBD1_ENST00000259883.3_Silent_p.R306R	p.R306R	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN			7	1338	+			306					Q53F43|Q6NTF5|Q8WWS4	Silent	SNP	ENST00000405948.2	37	c.918G>A	CCDS4648.1																																																																																				0.448	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			4	53	0	0	0	0.150653	0	4	53				
SYNE2	23224	broad.mit.edu	37	14	64486767	64486767	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr14:64486767A>G	ENST00000344113.4	+	35	5319	c.5107A>G	c.(5107-5109)Ata>Gta	p.I1703V	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.I1703V|SYNE2_ENST00000554584.1_Missense_Mutation_p.I1703V	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1703					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGTGGCTGAAATACAGTTTTT	0.299																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(5107-5109)Ata>Gta		spectrin repeat containing, nuclear envelope 2							66.0	67.0	67.0					14																	64486767		1801	4065	5866	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64486767A>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.5107A>G	14.37:g.64486767A>G	ENSP00000341781:p.Ile1703Val					SYNE2_ENST00000344113.4_Missense_Mutation_p.I1703V|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.I1703V	p.I1703V	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	35	5337	+			1703					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.5107A>G	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	14.40	2.525579	0.44969	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.63255	1.44;1.44;-0.03	5.54	4.4	0.53042	.	0.000000	0.64402	D	0.000005	T	0.55305	0.1912	L	0.58101	1.795	0.80722	D	1	B;B	0.31705	0.227;0.336	B;B	0.30782	0.056;0.12	T	0.52049	-0.8627	10	0.33940	T	0.23	.	10.1028	0.42515	0.9239:0.0:0.0761:0.0	.	1703;1703	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	V	1703	ENSP00000350719:I1703V;ENSP00000341781:I1703V;ENSP00000452570:I1703V	ENSP00000261678:I1703V	I	+	1	0	SYNE2	63556520	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.575000	0.46025	1.049000	0.40321	0.455000	0.32223	ATA		0.299	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		14	72	0	0	0	0.160694	0	14	72				
PLXDC2	84898	broad.mit.edu	37	10	20335831	20335831	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr10:20335831A>G	ENST00000377252.4	+	3	1199	c.358A>G	c.(358-360)Ata>Gta	p.I120V	PLXDC2_ENST00000377242.3_Intron|PLXDC2_ENST00000377238.2_3'UTR	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	120					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TATATCTCGAATATATGGTCC	0.328																																						ENST00000377252.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						c.(358-360)Ata>Gta		plexin domain containing 2							107.0	115.0	112.0					10																	20335831		2203	4300	6503	SO:0001583	missense	84898					integral to membrane		g.chr10:20335831A>G	AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"""tumor endothelial marker 7-related precursor"""	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.358A>G	10.37:g.20335831A>G	ENSP00000366460:p.Ile120Val					PLXDC2_ENST00000377242.3_Intron|PLXDC2_ENST00000377238.2_3'UTR	p.I120V	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN			3	1199	+			120					Q96E59|Q96PD9|Q96SU9	Missense_Mutation	SNP	ENST00000377252.4	37	c.358A>G	CCDS7132.1	.	.	.	.	.	.	.	.	.	.	A	13.90	2.373616	0.42105	.	.	ENSG00000120594	ENST00000377252;ENST00000536022	T	0.22539	1.95	5.29	5.29	0.74685	.	0.089368	0.85682	D	0.000000	T	0.13243	0.0321	N	0.12961	0.28	0.80722	D	1	B	0.20780	0.048	B	0.19148	0.024	T	0.11817	-1.0572	10	0.16896	T	0.51	.	15.2152	0.73261	1.0:0.0:0.0:0.0	.	120	Q6UX71	PXDC2_HUMAN	V	120;106	ENSP00000366460:I120V	ENSP00000366460:I120V	I	+	1	0	PLXDC2	20375837	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	8.957000	0.93082	1.989000	0.58080	0.528000	0.53228	ATA		0.328	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812		11	88	0	0	0	0.093190	0	11	88				
MBTPS2	51360	broad.mit.edu	37	X	21896226	21896226	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chrX:21896226C>A	ENST00000379484.5	+	8	1136	c.1037C>A	c.(1036-1038)tCc>tAc	p.S346Y		NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	346	Cys-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						GTGTGCTTTTCCTACAGAAAT	0.343																																						ENST00000379484.5																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						c.(1036-1038)tCc>tAc		membrane-bound transcription factor peptidase, site 2							70.0	65.0	67.0					X																	21896226		2203	4299	6502	SO:0001583	missense	51360				cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity	g.chrX:21896226C>A	AF019612	CCDS14201.1	Xp22.12-p22.11	2014-02-03	2005-08-17		ENSG00000012174	ENSG00000012174			15455	protein-coding gene	gene with protein product		300294	"""membrane-bound transcription factor protease, site 2"", ""keratosis follicularis spinulosa decalvans"""	KFSD		9847074, 9659902, 20672378	Standard	NM_015884		Approved	S2P	uc004dae.3	O43462	OTTHUMG00000021237	ENST00000379484.5:c.1037C>A	X.37:g.21896226C>A	ENSP00000368798:p.Ser346Tyr						p.S346Y	NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN			8	1136	+			346			Cys-rich.		Q9UM70|Q9UMD3	Missense_Mutation	SNP	ENST00000379484.5	37	c.1037C>A	CCDS14201.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.074492	0.76415	.	.	ENSG00000012174	ENST00000379484	D	0.93547	-3.24	5.36	5.36	0.76844	Peptidase M50 (1);	0.053817	0.85682	D	0.000000	D	0.95230	0.8453	L	0.48174	1.505	0.80722	D	1	D	0.69078	0.997	D	0.68621	0.959	D	0.95071	0.8204	10	0.49607	T	0.09	-11.3253	18.1759	0.89761	0.0:1.0:0.0:0.0	.	346	O43462	MBTP2_HUMAN	Y	346	ENSP00000368798:S346Y	ENSP00000368798:S346Y	S	+	2	0	MBTPS2	21806147	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.321000	0.72881	2.485000	0.83878	0.513000	0.50165	TCC		0.343	MBTPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056026.1			8	44	1	0	0.000157383	0.038147	0.000168899	8	44				
L3HYPDH	112849	broad.mit.edu	37	14	59950999	59950999	+	Silent	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr14:59950999C>T	ENST00000247194.4	-	1	149	c.36G>A	c.(34-36)ccG>ccA	p.P12P	JKAMP_ENST00000425728.2_5'Flank|JKAMP_ENST00000261247.9_5'Flank|JKAMP_ENST00000556985.1_5'Flank|JKAMP_ENST00000554271.1_5'Flank|L3HYPDH_ENST00000487285.1_5'Flank|RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000356057.5_5'Flank	NM_144581.1	NP_653182.1	Q96EM0	T3HPD_HUMAN	L-3-hydroxyproline dehydratase (trans-)	12					metabolic process (GO:0008152)		hydro-lyase activity (GO:0016836)|trans-L-3-hydroxyproline dehydratase activity (GO:0050346)									L-Proline(DB00172)	CTGGATCATGCGGGGGCAGCC	0.701																																						ENST00000247194.4																			0											c.(34-36)ccG>ccA		L-3-hydroxyproline dehydratase (trans-)																																				SO:0001819	synonymous_variant	112849							g.chr14:59950999C>T	AI762327	CCDS9739.1	14q23.1	2012-08-15	2012-08-15	2012-08-15	ENSG00000126790	ENSG00000126790	4.2.1.77		20488	protein-coding gene	gene with protein product	"""trans-L-3-hydroxyproline dehydratase"""	614811	"""chromosome 14 open reading frame 149"""	C14orf149		22528483	Standard	NM_144581		Approved	FLJ25436	uc001xee.1	Q96EM0	OTTHUMG00000028941	ENST00000247194.4:c.36G>A	14.37:g.59950999C>T						RP11-701B16.2_ENST00000554253.1_RNA	p.P12P	NM_144581.1	NP_653182.1					1	149	-								Q96LJ5	Silent	SNP	ENST00000247194.4	37	c.36G>A	CCDS9739.1																																																																																				0.701	L3HYPDH-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072254.5	NM_144581		3	33	0	0	0	0.021553	0	3	33				
TCEAL8	90843	broad.mit.edu	37	X	102508843	102508843	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chrX:102508843C>T	ENST00000372685.3	-	3	301	c.65G>A	c.(64-66)cGc>cAc	p.R22H	TCEAL8_ENST00000360000.4_Missense_Mutation_p.R22H	NM_153333.2	NP_699164.1	Q8IYN2	TCAL8_HUMAN	transcription elongation factor A (SII)-like 8	22					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(2)|lung(1)|ovary(1)	4						CTCCAAAGGGCGATCTTCCTC	0.443																																						ENST00000372685.3																			0				kidney(2)|lung(1)|ovary(1)	4						c.(64-66)cGc>cAc		transcription elongation factor A (SII)-like 8							188.0	167.0	174.0					X																	102508843		2203	4300	6503	SO:0001583	missense	90843				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:102508843C>T	AL833632	CCDS14504.1	Xq22.1	2014-03-21			ENSG00000180964	ENSG00000180964			28683	protein-coding gene	gene with protein product						16221301	Standard	NM_001006684		Approved	MGC45400, WEX3	uc004ejy.3	Q8IYN2	OTTHUMG00000022094	ENST00000372685.3:c.65G>A	X.37:g.102508843C>T	ENSP00000361770:p.Arg22His					TCEAL8_ENST00000360000.4_Missense_Mutation_p.R22H	p.R22H	NM_153333.2	NP_699164.1	Q8IYN2	TCAL8_HUMAN			3	301	-			22						Missense_Mutation	SNP	ENST00000372685.3	37	c.65G>A	CCDS14504.1	.	.	.	.	.	.	.	.	.	.	C	4.239	0.043264	0.08196	.	.	ENSG00000180964	ENST00000360000;ENST00000372685;ENST00000451678	T;T	0.09911	2.93;2.93	4.52	-3.18	0.05186	.	0.538057	0.16403	N	0.215930	T	0.04318	0.0119	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34079	-0.9843	10	0.32370	T	0.25	-0.1709	11.0587	0.47933	0.0:0.2747:0.0:0.7253	.	22	Q8IYN2	TCAL8_HUMAN	H	22	ENSP00000353093:R22H;ENSP00000361770:R22H	ENSP00000353093:R22H	R	-	2	0	TCEAL8	102395499	0.530000	0.26330	0.182000	0.23118	0.796000	0.44982	-0.926000	0.03988	-0.959000	0.03618	-0.191000	0.12829	CGC		0.443	TCEAL8-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057698.1	NM_153333		9	139	0	0	0	0.058154	0	9	139				
NRAP	4892	broad.mit.edu	37	10	115365978	115365978	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr10:115365978C>T	ENST00000359988.3	-	33	4010	c.3766G>A	c.(3766-3768)Gag>Aag	p.E1256K	NRAP_ENST00000360478.3_Missense_Mutation_p.E1221K|NRAP_ENST00000369360.3_Missense_Mutation_p.E1229K|NRAP_ENST00000369358.4_Missense_Mutation_p.E1264K	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CGGATGAACTCGGGCAGACCC	0.438																																						ENST00000369358.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(3790-3792)Gag>Aag		nebulin-related anchoring protein							166.0	159.0	161.0					10																	115365978		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115365978C>T		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.3766G>A	10.37:g.115365978C>T	ENSP00000353078:p.Glu1256Lys					NRAP_ENST00000359988.3_Missense_Mutation_p.E1256K|NRAP_ENST00000369360.3_Missense_Mutation_p.E1229K|NRAP_ENST00000360478.3_Missense_Mutation_p.E1221K	p.E1264K			Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	33	4034	-		Colorectal(252;0.0233)|Breast(234;0.188)	1256						Missense_Mutation	SNP	ENST00000359988.3	37	c.3790G>A	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.023137	0.93462	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.76407	0.3983	M	0.85945	2.785	0.51482	D	0.999929	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.78783	-0.2069	10	0.56958	D	0.05	.	17.896	0.88888	0.0:1.0:0.0:0.0	.	1256;1221;1256	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	K	1264;1229;1256;1221	ENSP00000358365:E1264K;ENSP00000358367:E1229K;ENSP00000353078:E1256K;ENSP00000353666:E1221K	ENSP00000353078:E1256K	E	-	1	0	NRAP	115355968	1.000000	0.71417	0.949000	0.38748	0.721000	0.41392	6.862000	0.75484	2.664000	0.90586	0.655000	0.94253	GAG		0.438	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		20	29	0	0	0	0.091800	0	20	29				
GRM8	2918	broad.mit.edu	37	7	126882949	126882949	+	Missense_Mutation	SNP	C	C	G	rs147289844		TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr7:126882949C>G	ENST00000339582.2	-	2	1118	c.310G>C	c.(310-312)Gac>Cac	p.D104H	GRM8_ENST00000405249.1_Missense_Mutation_p.D104H|GRM8_ENST00000444921.2_Missense_Mutation_p.D104H|GRM8_ENST00000358373.3_Missense_Mutation_p.D104H			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	104					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GAGCACGTGTCGAGGATGCGG	0.478										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(310-312)Gac>Cac		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						119.0	94.0	102.0					7																	126882949		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126882949C>G		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.310G>C	7.37:g.126882949C>G	ENSP00000344173:p.Asp104His	HNSCC(24;0.065)				GRM8_ENST00000358373.3_Missense_Mutation_p.D104H|GRM8_ENST00000444921.2_Missense_Mutation_p.D104H|GRM8_ENST00000405249.1_Missense_Mutation_p.D104H	p.D104H			O00222	GRM8_HUMAN			2	1118	-		Prostate(267;0.186)	104					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.310G>C	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269859	0.80469	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249;ENST00000457830	D;D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21;-2.21	6.06	6.06	0.98353	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.96065	0.8718	H	0.96398	3.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96611	0.9452	10	0.87932	D	0	.	19.6279	0.95687	0.0:1.0:0.0:0.0	.	104;104	O00222-2;O00222	.;GRM8_HUMAN	H	104	ENSP00000344173:D104H;ENSP00000409790:D104H;ENSP00000351142:D104H;ENSP00000385731:D104H;ENSP00000415522:D104H	ENSP00000344173:D104H	D	-	1	0	GRM8	126670185	1.000000	0.71417	0.991000	0.47740	0.978000	0.69477	7.818000	0.86416	2.880000	0.98712	0.650000	0.86243	GAC		0.478	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			11	39	0	0	0	0.080935	0	11	39				
MDN1	23195	broad.mit.edu	37	6	90482425	90482425	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr6:90482425G>A	ENST00000369393.3	-	14	2065	c.1950C>T	c.(1948-1950)ttC>ttT	p.F650F	MDN1_ENST00000428876.1_Silent_p.F650F			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	650					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTGTAGCAGCGAAAGTGAACT	0.498																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(1948-1950)ttC>ttT		MDN1, midasin homolog (yeast)							78.0	81.0	80.0					6																	90482425		2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90482425G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.1950C>T	6.37:g.90482425G>A						MDN1_ENST00000428876.1_Silent_p.F650F	p.F650F			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	14	2065	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	650					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.1950C>T	CCDS5024.1																																																																																				0.498	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			10	51	0	0	0	0.058154	0	10	51				
B4GALNT3	283358	broad.mit.edu	37	12	653525	653525	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr12:653525G>A	ENST00000266383.5	+	4	385	c.372G>A	c.(370-372)ctG>ctA	p.L124L	B4GALNT3_ENST00000544638.1_3'UTR	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	124					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GTGCCAACCTGCATGTGTTTG	0.632																																						ENST00000266383.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(370-372)ctG>ctA		beta-1,4-N-acetyl-galactosaminyl transferase 3							121.0	104.0	110.0					12																	653525		2203	4300	6503	SO:0001819	synonymous_variant	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:653525G>A	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.372G>A	12.37:g.653525G>A						B4GALNT3_ENST00000544638.1_3'UTR	p.L124L	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		4	385	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		124					Q6ZNC1|Q8N7T6	Silent	SNP	ENST00000266383.5	37	c.372G>A	CCDS8504.1																																																																																				0.632	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		9	75	0	0	0	0.058154	0	9	75				
MIR891B	100126304	broad.mit.edu	37	X	145082598	145082598	+	RNA	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chrX:145082598C>T	ENST00000401245.1	-	0	51					NR_030590.1				microRNA 891b																		caaacatgtgCCATTGAATGT	0.378																																						ENST00000401245.1																			0																				171.0	130.0	143.0					X																	145082598		1568	3582	5150			100126304							g.chrX:145082598C>T			Xq27.3	2011-09-12		2008-12-18	ENSG00000216064	ENSG00000216064		"""ncRNAs / Micro RNAs"""	33645	non-coding RNA	RNA, micro				MIRN891B			Standard	NR_030590		Approved	hsa-mir-891b	uc022cfs.1				X.37:g.145082598C>T								NR_030590.1						0	51	-									RNA	SNP	ENST00000401245.1	37																																																																																						0.378	MIR891B-201	KNOWN	basic	miRNA	miRNA		NR_030590		5	33	0	0	0	0.014758	0	5	33				
ANGEL2	90806	broad.mit.edu	37	1	213181634	213181634	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:213181634T>C	ENST00000366962.3	-	3	714	c.560A>G	c.(559-561)tAt>tGt	p.Y187C	ANGEL2_ENST00000360506.2_Missense_Mutation_p.Y18C|ANGEL2_ENST00000544555.1_Missense_Mutation_p.Y18C|ANGEL2_ENST00000540642.1_Missense_Mutation_p.Y61C|ANGEL2_ENST00000535388.1_Missense_Mutation_p.Y18C	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	187										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		GCAATGTCTATAAAGGTGAGA	0.353																																						ENST00000366962.3																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24						c.(559-561)tAt>tGt		angel homolog 2 (Drosophila)							95.0	95.0	95.0					1																	213181634		2203	4300	6503	SO:0001583	missense	90806							g.chr1:213181634T>C	AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.560A>G	1.37:g.213181634T>C	ENSP00000355929:p.Tyr187Cys					ANGEL2_ENST00000360506.2_Missense_Mutation_p.Y18C|ANGEL2_ENST00000544555.1_Missense_Mutation_p.Y18C|ANGEL2_ENST00000540642.1_Missense_Mutation_p.Y61C|ANGEL2_ENST00000535388.1_Missense_Mutation_p.Y18C	p.Y187C	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)	3	714	-			187					B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Missense_Mutation	SNP	ENST00000366962.3	37	c.560A>G	CCDS1512.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.188229	0.78789	.	.	ENSG00000174606	ENST00000366962;ENST00000360506;ENST00000544555;ENST00000540642;ENST00000535388;ENST00000310246	T;T;T;T;T	0.58060	1.31;0.36;0.36;0.96;0.55	5.76	4.64	0.57946	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	T	0.79299	0.4422	H	0.95043	3.615	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.83764	0.0216	10	0.87932	D	0	-17.5195	11.6532	0.51301	0.0:0.0689:0.0:0.9311	.	61;165;187	F5H476;Q96AL9;Q5VTE6	.;.;ANGE2_HUMAN	C	187;18;18;61;18;165	ENSP00000355929:Y187C;ENSP00000353696:Y18C;ENSP00000443193:Y18C;ENSP00000446124:Y61C;ENSP00000438141:Y18C	ENSP00000309755:Y165C	Y	-	2	0	ANGEL2	211248257	1.000000	0.71417	0.745000	0.31077	0.989000	0.77384	7.603000	0.82811	1.010000	0.39314	0.533000	0.62120	TAT		0.353	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089693.1	NM_144567		20	77	0	0	0	0.055883	0	20	77				
FEZF1	389549	broad.mit.edu	37	7	121943895	121943895	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr7:121943895G>A	ENST00000442488.2	-	1	664	c.597C>T	c.(595-597)gcC>gcT	p.A199A	FEZF1-AS1_ENST00000437317.1_RNA|FEZF1_ENST00000331178.4_Silent_p.A199A|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000427185.2_Silent_p.A149A	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	199					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						TATTCCTTTCGGCTAAATACG	0.557																																						ENST00000442488.2																			0				breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						c.(595-597)gcC>gcT		FEZ family zinc finger 1							38.0	42.0	41.0					7																	121943895		2203	4300	6503	SO:0001819	synonymous_variant	389549				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:121943895G>A	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.597C>T	7.37:g.121943895G>A						FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000427185.2_Silent_p.A149A|FEZF1_ENST00000331178.4_Silent_p.A199A	p.A199A	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN			1	664	-			199					A0PJY3|A4D0W3|B4DUP9|B7ZM98	Silent	SNP	ENST00000442488.2	37	c.597C>T	CCDS34741.2																																																																																				0.557	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		4	42	0	0	0	0.150653	0	4	42				
COBLL1	22837	broad.mit.edu	37	2	165557131	165557131	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:165557131G>C	ENST00000392717.2	-	11	1596	c.1592C>G	c.(1591-1593)aCa>aGa	p.T531R	COBLL1_ENST00000491126.2_5'UTR|COBLL1_ENST00000342193.4_Missense_Mutation_p.T493R|COBLL1_ENST00000375458.2_Missense_Mutation_p.T454R|COBLL1_ENST00000409184.3_Missense_Mutation_p.T492R|COBLL1_ENST00000194871.6_Missense_Mutation_p.T559R			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	531						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						ATTTTTCAGTGTATTTATTAT	0.373																																						ENST00000375458.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						c.(1360-1362)aCa>aGa		cordon-bleu WH2 repeat protein-like 1							140.0	138.0	139.0					2																	165557131		2203	4300	6503	SO:0001583	missense	22837							g.chr2:165557131G>C	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.1592C>G	2.37:g.165557131G>C	ENSP00000376478:p.Thr531Arg					COBLL1_ENST00000409184.3_Missense_Mutation_p.T492R|COBLL1_ENST00000392717.2_Missense_Mutation_p.T531R|COBLL1_ENST00000342193.4_Missense_Mutation_p.T493R|COBLL1_ENST00000194871.6_Missense_Mutation_p.T559R|COBLL1_ENST00000491126.2_5'UTR	p.T454R	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN			9	1582	-			531					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37	c.1361C>G		.	.	.	.	.	.	.	.	.	.	G	9.337	1.061923	0.19987	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	5.42	1.41	0.22369	.	0.745880	0.12767	N	0.440876	T	0.40398	0.1115	L	0.34521	1.04	0.09310	N	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.69654	0.951;0.965;0.965	T	0.15037	-1.0451	9	0.54805	T	0.06	-0.0178	3.4494	0.07493	0.2172:0.1214:0.5493:0.112	.	531;559;492	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	R	454;493;492;531;559	.	ENSP00000194871:T559R	T	-	2	0	COBLL1	165265377	0.019000	0.18553	0.000000	0.03702	0.000000	0.00434	0.784000	0.26816	0.369000	0.24510	-0.793000	0.03317	ACA		0.373	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		12	87	0	0	0	0.119110	0	12	87				
SLC26A9	115019	broad.mit.edu	37	1	205888028	205888028	+	Silent	SNP	G	G	A	rs367640041		TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:205888028G>A	ENST00000367135.3	-	19	2309	c.2196C>T	c.(2194-2196)gaC>gaT	p.D732D	SLC26A9_ENST00000340781.4_Silent_p.D732D|SLC26A9_ENST00000367134.2_Silent_p.D732D	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	732	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			AGAGGACTGCGTCATGTATGC	0.522											OREG0014164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367135.3																			0				NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52						c.(2194-2196)gaC>gaT		solute carrier family 26 (anion exchanger), member 9		G	,	0,4406		0,0,2203	308.0	289.0	296.0		2196,2196	-5.4	0.2	1		296	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous	SLC26A9	NM_052934.3,NM_134325.2	,	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	,	732/792,732/888	205888028	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	115019					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	g.chr1:205888028G>A	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.2196C>T	1.37:g.205888028G>A			OREG0014164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2155	SLC26A9_ENST00000340781.4_Silent_p.D732D|SLC26A9_ENST00000367134.2_Silent_p.D732D	p.D732D	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)		19	2309	-	Breast(84;0.201)		732			STAS.		A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Silent	SNP	ENST00000367135.3	37	c.2196C>T	CCDS30990.1																																																																																				0.522	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		53	259	0	0	0	0.139131	0	53	259				
SLC4A3	6508	broad.mit.edu	37	2	220494312	220494312	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:220494312G>A	ENST00000358055.3	+	5	1018	c.506G>A	c.(505-507)gGa>gAa	p.G169E	AC009955.8_ENST00000455896.1_RNA|SLC4A3_ENST00000273063.6_Missense_Mutation_p.G169E|SLC4A3_ENST00000373762.3_Missense_Mutation_p.G169E|SLC4A3_ENST00000373760.2_Missense_Mutation_p.G169E|SLC4A3_ENST00000497589.1_Intron|SLC4A3_ENST00000317151.3_Missense_Mutation_p.G169E			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	169					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCTCCATTGGAAGTGACGAG	0.637																																						ENST00000358055.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(505-507)gGa>gAa		solute carrier family 4 (anion exchanger), member 3							43.0	43.0	43.0					2																	220494312		2203	4300	6503	SO:0001583	missense	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220494312G>A		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.506G>A	2.37:g.220494312G>A	ENSP00000350756:p.Gly169Glu					SLC4A3_ENST00000373760.2_Missense_Mutation_p.G169E|SLC4A3_ENST00000497589.1_Intron|SLC4A3_ENST00000273063.6_Missense_Mutation_p.G169E|SLC4A3_ENST00000373762.3_Missense_Mutation_p.G169E|SLC4A3_ENST00000317151.3_Missense_Mutation_p.G169E	p.G169E			P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	1018	+		Renal(207;0.0183)	169					A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	c.506G>A	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457390	0.63401	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151	T;T;T;T;T	0.74315	-0.69;-0.69;-0.83;-0.83;-0.69	4.77	4.77	0.60923	.	1.274300	0.05393	N	0.539372	D	0.82332	0.5014	L	0.43152	1.355	0.53005	D	0.999965	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	T	0.69617	-0.5097	10	0.12430	T	0.62	.	14.6455	0.68756	0.0:0.0:1.0:0.0	.	169;169	P48751;P48751-3	B3A3_HUMAN;.	E	169	ENSP00000350756:G169E;ENSP00000362865:G169E;ENSP00000273063:G169E;ENSP00000362867:G169E;ENSP00000314006:G169E	ENSP00000273063:G169E	G	+	2	0	SLC4A3	220202556	0.986000	0.35501	0.989000	0.46669	0.977000	0.68977	2.451000	0.44952	2.470000	0.83445	0.462000	0.41574	GGA		0.637	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		13	22	0	0	0	0.119110	0	13	22				
CUX1	1523	broad.mit.edu	37	7	101559503	101559503	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr7:101559503G>T	ENST00000292535.7	+	2	177	c.139G>T	c.(139-141)Gag>Tag	p.E47*	CUX1_ENST00000546411.2_Nonsense_Mutation_p.E47*|CUX1_ENST00000547394.2_Nonsense_Mutation_p.E58*|CUX1_ENST00000425244.2_Nonsense_Mutation_p.E58*|CUX1_ENST00000292538.4_Nonsense_Mutation_p.E58*|CUX1_ENST00000549414.2_Nonsense_Mutation_p.E47*|CUX1_ENST00000360264.3_Nonsense_Mutation_p.E58*|CUX1_ENST00000550008.2_Nonsense_Mutation_p.E47*|CUX1_ENST00000437600.4_Nonsense_Mutation_p.E58*|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000556210.1_Nonsense_Mutation_p.E47*	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	47					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GAACACTCCAGAGGTGAGGCG	0.532																																						ENST00000360264.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(172-174)Gag>Tag		cut-like homeobox 1							105.0	95.0	98.0					7																	101559503		2203	4300	6503	SO:0001587	stop_gained	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101559503G>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.139G>T	7.37:g.101559503G>T	ENSP00000292535:p.Glu47*					CUX1_ENST00000393824.3_Intron|CUX1_ENST00000549414.2_Nonsense_Mutation_p.E47*|CUX1_ENST00000292535.7_Nonsense_Mutation_p.E47*|CUX1_ENST00000437600.4_Nonsense_Mutation_p.E58*|CUX1_ENST00000547394.2_Nonsense_Mutation_p.E58*|CUX1_ENST00000556210.1_Nonsense_Mutation_p.E47*|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000425244.2_Nonsense_Mutation_p.E58*|CUX1_ENST00000550008.2_Nonsense_Mutation_p.E47*|CUX1_ENST00000546411.2_Nonsense_Mutation_p.E47*|CUX1_ENST00000292538.4_Nonsense_Mutation_p.E58*	p.E58*	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			2	192	+			47					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Nonsense_Mutation	SNP	ENST00000292535.7	37	c.172G>T	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	44	11.118211	0.99518	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000360264;ENST00000393824;ENST00000425244;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	.	.	.	5.47	5.47	0.80525	.	0.071179	0.53938	D	0.000046	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-23.1077	17.5093	0.87755	0.0:0.0:1.0:0.0	.	.	.	.	X	58;58;58;58;58;58;47;47;47;47;47	.	ENSP00000292535:E47X	E	+	1	0	CUX1	101346223	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.955000	0.93058	2.570000	0.86706	0.655000	0.94253	GAG		0.532	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		7	55	1	0	0.00198382	0.029380	0.00206599	7	55				
PKD1L2	114780	broad.mit.edu	37	16	81142842	81142842	+	RNA	SNP	T	T	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr16:81142842T>C	ENST00000534142.1	-	0	1430				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA|RNU6-1191P_ENST00000516799.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GACCATCGTCTCCGCCGCATC	0.502																																						ENST00000534142.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44								polycystic kidney disease 1-like 2							45.0	48.0	47.0					16																	81142842		1969	4136	6105			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81142842T>C	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81142842T>C						PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA				Q7Z442	PK1L2_HUMAN			0	1430	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	SNP	ENST00000534142.1	37																																																																																						0.502	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene	OTTHUMT00000387969.1			4	9	0	0	0	0.021553	0	4	9				
FBXL13	222235	broad.mit.edu	37	7	102523890	102523890	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr7:102523890G>C	ENST00000313221.4	-	14	1676	c.1250C>G	c.(1249-1251)tCc>tGc	p.S417C	FBXL13_ENST00000436908.1_Missense_Mutation_p.S417C|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000393772.2_Missense_Mutation_p.S417C|FBXL13_ENST00000379308.3_Missense_Mutation_p.S417C|FBXL13_ENST00000455112.2_Missense_Mutation_p.S417C|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000379305.3_Missense_Mutation_p.S417C	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	417										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						AAATTTGAAGGATGCATCAGT	0.343																																						ENST00000393772.2																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						c.(1249-1251)tCc>tGc		F-box and leucine-rich repeat protein 13							89.0	87.0	88.0					7																	102523890		2203	4300	6503	SO:0001583	missense	222235							g.chr7:102523890G>C	BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.1250C>G	7.37:g.102523890G>C	ENSP00000321927:p.Ser417Cys					FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000436908.1_Missense_Mutation_p.S417C|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000455112.2_Missense_Mutation_p.S417C|FBXL13_ENST00000313221.4_Missense_Mutation_p.S417C|FBXL13_ENST00000379308.3_Missense_Mutation_p.S417C|FBXL13_ENST00000379305.3_Missense_Mutation_p.S417C	p.S417C			Q8NEE6	FXL13_HUMAN			14	1676	-			417					C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	ENST00000313221.4	37	c.1250C>G	CCDS5726.1	.	.	.	.	.	.	.	.	.	.	G	8.155	0.788318	0.16258	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000455112	T;T;T;T;T;T	0.55413	0.56;0.52;0.56;0.54;0.54;0.52	5.27	2.15	0.27550	.	0.259978	0.33127	N	0.005255	T	0.27313	0.0670	N	0.01168	-0.975	0.19775	N	0.999956	B;B;B	0.14805	0.009;0.005;0.011	B;B;B	0.20384	0.029;0.013;0.019	T	0.14559	-1.0468	10	0.33141	T	0.24	.	18.622	0.91324	0.0:0.5537:0.4463:0.0	.	417;417;417	Q8NEE6-3;Q8NEE6-2;Q8NEE6	.;.;FXL13_HUMAN	C	417	ENSP00000377367:S417C;ENSP00000368610:S417C;ENSP00000368607:S417C;ENSP00000388608:S417C;ENSP00000321927:S417C;ENSP00000391550:S417C	ENSP00000321927:S417C	S	-	2	0	FBXL13	102311126	0.996000	0.38824	0.869000	0.34112	0.763000	0.43281	1.156000	0.31712	0.584000	0.29591	-0.165000	0.13383	TCC		0.343	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032		14	37	0	0	0	0.105934	0	14	37				
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	tumor protein p53							50.0	50.0	50.0					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578406C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H	p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	656	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		9	33	0	0	0	0.069234	0	9	33				
IL18RAP	8807	broad.mit.edu	37	2	103068292	103068292	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:103068292A>G	ENST00000264260.2	+	12	2040	c.1451A>G	c.(1450-1452)aAc>aGc	p.N484S	IL18RAP_ENST00000409369.1_Missense_Mutation_p.N342S	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	484	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TTGAGCCCCAACTATGTCAAT	0.353																																						ENST00000264260.2																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						c.(1450-1452)aAc>aGc		interleukin 18 receptor accessory protein							133.0	136.0	135.0					2																	103068292		2203	4300	6503	SO:0001583	missense	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103068292A>G	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1451A>G	2.37:g.103068292A>G	ENSP00000264260:p.Asn484Ser					IL18RAP_ENST00000409369.1_Missense_Mutation_p.N342S	p.N484S	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN			12	2040	+			484			TIR.		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	c.1451A>G	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	A	9.836	1.189840	0.21954	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.02974	4.09;4.09	6.02	-6.03	0.02185	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.793072	0.11993	N	0.509599	T	0.02304	0.0071	L	0.39085	1.19	0.20074	N	0.999934	B	0.14438	0.01	B	0.21151	0.033	T	0.47058	-0.9146	10	0.11794	T	0.64	.	11.9545	0.52974	0.2386:0.1926:0.5687:0.0	.	484	O95256	I18RA_HUMAN	S	484;342	ENSP00000264260:N484S;ENSP00000387201:N342S	ENSP00000264260:N484S	N	+	2	0	IL18RAP	102434724	0.000000	0.05858	0.275000	0.24674	0.664000	0.39144	-0.169000	0.09911	-1.067000	0.03160	0.528000	0.53228	AAC		0.353	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		12	86	0	0	0	0.119110	0	12	86				
SERTAD4	56256	broad.mit.edu	37	1	210415025	210415025	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:210415025G>C	ENST00000367012.3	+	4	644	c.414G>C	c.(412-414)agG>agC	p.R138S	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	138	SERTA. {ECO:0000255|PROSITE- ProRule:PRU00396}.					nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		TGATGAAAAGGATCCATGGAG	0.428																																						ENST00000367012.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14						c.(412-414)agG>agC		SERTA domain containing 4							106.0	111.0	109.0					1																	210415025		2203	4300	6503	SO:0001583	missense	56256						protein binding	g.chr1:210415025G>C	BC012083	CCDS1494.1	1q32.1-q41	2008-02-05			ENSG00000082497	ENSG00000082497			25236	protein-coding gene	gene with protein product						12477932	Standard	NM_019605		Approved	DJ667H12.2	uc001hhy.3	Q9NUC0	OTTHUMG00000036391	ENST00000367012.3:c.414G>C	1.37:g.210415025G>C	ENSP00000355979:p.Arg138Ser					SERTAD4_ENST00000490620.1_3'UTR	p.R138S	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)	4	644	+			138			SERTA.		B2RD32	Missense_Mutation	SNP	ENST00000367012.3	37	c.414G>C	CCDS1494.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.611446	0.46631	.	.	ENSG00000082497	ENST00000367012	.	.	.	5.66	2.78	0.32641	.	0.054916	0.64402	D	0.000004	T	0.53802	0.1819	L	0.48642	1.525	0.36542	D	0.871352	P	0.35468	0.503	B	0.42214	0.38	T	0.62613	-0.6817	9	0.87932	D	0	-9.2033	9.6689	0.40000	0.2943:0.0:0.7057:0.0	.	138	Q9NUC0	SRTD4_HUMAN	S	138	.	ENSP00000355979:R138S	R	+	3	2	SERTAD4	208481648	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.569000	0.23638	0.745000	0.32763	-0.150000	0.13652	AGG		0.428	SERTAD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088577.1	NM_019605		24	149	0	0	0	0.069288	0	24	149				
TP53	7157	broad.mit.edu	37	17	7577543	7577543	+	Missense_Mutation	SNP	C	C	T	rs397516437		TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr17:7577543C>T	ENST00000269305.4	-	7	927	c.738G>A	c.(736-738)atG>atA	p.M246I	TP53_ENST00000420246.2_Missense_Mutation_p.M246I|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.M246I|TP53_ENST00000413465.2_Missense_Mutation_p.M246I|TP53_ENST00000455263.2_Missense_Mutation_p.M246I|TP53_ENST00000359597.4_Missense_Mutation_p.M246I	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	246	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.M246I(24)|p.0?(8)|p.?(5)|p.M246_P250delMNRRP(2)|p.C242fs*98(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*14(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCCTCCGGTTCATGCCGCCCA	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		43	Substitution - Missense(24)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(3)|Deletion - Frameshift(3)	p.M246I(24)|p.0?(8)|p.?(5)|p.M246_P250delMNRRP(2)|p.C242fs*98(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*14(1)|p.G245fs*16(1)	upper_aerodigestive_tract(8)|biliary_tract(5)|ovary(5)|central_nervous_system(4)|bone(4)|large_intestine(3)|stomach(3)|breast(3)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|liver(1)|lung(1)|skin(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(736-738)atG>atA	Other conserved DNA damage response genes	tumor protein p53							152.0	113.0	126.0					17																	7577543		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577543C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.738G>A	17.37:g.7577543C>T	ENSP00000269305:p.Met246Ile	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Missense_Mutation_p.M246I|TP53_ENST00000359597.4_Missense_Mutation_p.M246I|TP53_ENST00000269305.4_Missense_Mutation_p.M246I|TP53_ENST00000445888.2_Missense_Mutation_p.M246I|TP53_ENST00000455263.2_Missense_Mutation_p.M246I	p.M246I	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	870	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	246		M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.738G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.664920	0.88251	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99789	-6.75;-6.75;-6.75;-6.75;-6.75;-6.75;-6.75;-6.75	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99468	0.9811	L	0.33624	1.015	0.80722	D	1	P;B;B;D;P;D	0.76494	0.895;0.098;0.057;0.969;0.474;0.999	D;B;B;D;P;D	0.83275	0.931;0.24;0.082;0.959;0.865;0.996	D	0.97709	1.0189	10	0.87932	D	0	-28.5667	15.3618	0.74483	0.0:1.0:0.0:0.0	.	246;246;153;246;246;246	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	I	246;246;246;246;246;246;235;153;114;153	ENSP00000410739:M246I;ENSP00000352610:M246I;ENSP00000269305:M246I;ENSP00000398846:M246I;ENSP00000391127:M246I;ENSP00000391478:M246I;ENSP00000425104:M114I;ENSP00000423862:M153I	ENSP00000269305:M246I	M	-	3	0	TP53	7518268	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	ATG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		12	52	0	0	0	0.105934	0	12	52				
ASIC2	40	broad.mit.edu	37	17	32483504	32483504	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr17:32483504G>A	ENST00000359872.6	-	1	809	c.48C>T	c.(46-48)agC>agT	p.S16S		NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	16					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	AGATCTGGATGCTAGAAGGTT	0.587																																						ENST00000359872.6																			0											c.(46-48)agC>agT		acid-sensing (proton-gated) ion channel 2	Amiloride(DB00594)						46.0	54.0	51.0					17																	32483504		2192	4288	6480	SO:0001819	synonymous_variant	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:32483504G>A	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.48C>T	17.37:g.32483504G>A							p.S16S	NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN			1	809	-			16					E9PBX2|Q13553|Q6DJU1|Q8N3E2	Silent	SNP	ENST00000359872.6	37	c.48C>T	CCDS42296.1																																																																																				0.587	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		14	25	0	0	0	0.132662	0	14	25				
HIST1H2AL	8332	broad.mit.edu	37	6	27833180	27833180	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr6:27833180G>A	ENST00000357320.2	+	1	147	c.48G>A	c.(46-48)aaG>aaA	p.K16K		NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	16						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						CCAAAGCCAAGACCCGCTCTT	0.637																																						ENST00000357320.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						c.(46-48)aaG>aaA		histone cluster 1, H2al							80.0	90.0	86.0					6																	27833180		2203	4300	6503	SO:0001819	synonymous_variant	8332				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27833180G>A	X83549	CCDS4634.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198374	ENSG00000276903		"""Histones / Replication-dependent"""	4730	protein-coding gene	gene with protein product		602793	"""H2A histone family, member I"", ""histone 1, H2al"""	H2AFI		9439656, 9031620, 12408966	Standard	NM_003511		Approved	H2A/i, dJ193B12.9	uc003njw.3	P0C0S8	OTTHUMG00000014492	ENST00000357320.2:c.48G>A	6.37:g.27833180G>A							p.K16K	NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN			1	147	+			16					P02261|Q2M1R2|Q76PA6	Silent	SNP	ENST00000357320.2	37	c.48G>A	CCDS4634.1																																																																																				0.637	HIST1H2AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040160.1	NM_003511		13	101	0	0	0	0.105934	0	13	101				
MCF2	4168	broad.mit.edu	37	X	138680607	138680607	+	Silent	SNP	G	G	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chrX:138680607G>C	ENST00000370576.4	-	17	2096	c.1887C>G	c.(1885-1887)ctC>ctG	p.L629L	AL033403.1_ENST00000401295.2_RNA|MCF2_ENST00000414978.1_Silent_p.L689L|MCF2_ENST00000370573.4_Silent_p.L629L|MCF2_ENST00000536274.1_Silent_p.L590L|MCF2_ENST00000370578.4_Silent_p.L774L|MCF2_ENST00000519895.1_Silent_p.L705L|MCF2_ENST00000520602.1_Silent_p.L689L|MCF2_ENST00000338585.6_Silent_p.L645L	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	629	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GCACTGGTTTGAGTAAATAGG	0.299																																						ENST00000520602.1																			0				NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62						c.(2065-2067)ctC>ctG		MCF.2 cell line derived transforming sequence							119.0	106.0	111.0					X																	138680607		2203	4299	6502	SO:0001819	synonymous_variant	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138680607G>C		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.1887C>G	X.37:g.138680607G>C						MCF2_ENST00000519895.1_Silent_p.L705L|MCF2_ENST00000370573.4_Silent_p.L629L|MCF2_ENST00000370576.4_Silent_p.L629L|MCF2_ENST00000338585.6_Silent_p.L645L|MCF2_ENST00000536274.1_Silent_p.L590L|MCF2_ENST00000370578.4_Silent_p.L774L|MCF2_ENST00000414978.1_Silent_p.L689L	p.L689L			P10911	MCF2_HUMAN			20	2352	-	Acute lymphoblastic leukemia(192;0.000127)		629			PH.		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Silent	SNP	ENST00000370576.4	37	c.2067C>G	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	g	7.916	0.737575	0.15574	.	.	ENSG00000101977	ENST00000437564	.	.	.	5.51	4.65	0.58169	.	.	.	.	.	T	0.58764	0.2145	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55885	-0.8070	4	.	.	.	.	8.0975	0.30837	0.0863:0.1664:0.7474:0.0	.	.	.	.	E	133	.	.	Q	-	1	0	MCF2	138508273	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.723000	0.25939	1.098000	0.41479	0.597000	0.82753	CAA		0.299	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		7	43	0	0	0	0.047766	0	7	43				
POTEC	388468	broad.mit.edu	37	18	14542833	14542833	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr18:14542833A>C	ENST00000358970.5	-	1	312	c.313T>G	c.(313-315)Tgc>Ggc	p.C105G	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	105										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CAGGGGAAGCAGTGACAGCAC	0.617																																						ENST00000358970.5																			0				NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(313-315)Tgc>Ggc		POTE ankyrin domain family, member C							25.0	35.0	32.0					18																	14542833		692	1590	2282	SO:0001583	missense	388468							g.chr18:14542833A>C	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.313T>G	18.37:g.14542833A>C	ENSP00000351856:p.Cys105Gly					POTEC_ENST00000389891.4_5'UTR	p.C105G	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			1	312	-			105						Missense_Mutation	SNP	ENST00000358970.5	37	c.313T>G	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	A	4.362	0.066654	0.08388	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.33654	1.4	0.458	0.458	0.16670	.	.	.	.	.	T	0.28665	0.0710	L	0.50333	1.59	0.09310	N	1	B	0.26672	0.156	B	0.19666	0.026	T	0.26258	-1.0108	8	0.62326	D	0.03	.	.	.	.	.	105	B2RU33	POTEC_HUMAN	G	105	ENSP00000351856:C105G	ENSP00000351856:C105G	C	-	1	0	POTEC	14532833	0.002000	0.14202	0.007000	0.13788	0.028000	0.11728	0.336000	0.19823	0.388000	0.25054	0.166000	0.16787	TGC		0.617	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		11	147	0	0	0	0.069234	0	11	147				
AHNAK	79026	broad.mit.edu	37	11	62298958	62298958	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr11:62298958G>A	ENST00000378024.4	-	5	3205	c.2931C>T	c.(2929-2931)ggC>ggT	p.G977G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	977					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)				CTACTTTTGGGCCTTTCAGGT	0.463																																						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.(2929-2931)ggC>ggT		AHNAK nucleoprotein							125.0	134.0	131.0					11																	62298958		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62298958G>A	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.2931C>T	11.37:g.62298958G>A						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.G977G	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	3205	-		Melanoma(852;0.155)	977					A1A586	Silent	SNP	ENST00000378024.4	37	c.2931C>T	CCDS31584.1																																																																																				0.463	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		24	104	0	0	0	0.083992	0	24	104				
ZNF804B	219578	broad.mit.edu	37	7	88963965	88963965	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr7:88963965A>C	ENST00000333190.4	+	4	2278	c.1669A>C	c.(1669-1671)Agt>Cgt	p.S557R		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	557							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTTGGACTACAGTGATTCTGA	0.343										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(1669-1671)Agt>Cgt		zinc finger protein 804B							43.0	46.0	45.0					7																	88963965		2198	4293	6491	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88963965A>C	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1669A>C	7.37:g.88963965A>C	ENSP00000329638:p.Ser557Arg	HNSCC(36;0.09)					p.S557R	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	2278	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		557					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.1669A>C	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	A	1.469	-0.560255	0.03939	.	.	ENSG00000182348	ENST00000333190	T	0.05025	3.51	5.49	0.497	0.16902	.	1.417680	0.03913	N	0.282284	T	0.04048	0.0113	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.41662	-0.9496	10	0.39692	T	0.17	-0.0186	6.2119	0.20633	0.6801:0.1238:0.1961:0.0	.	557	A4D1E1	Z804B_HUMAN	R	557	ENSP00000329638:S557R	ENSP00000329638:S557R	S	+	1	0	ZNF804B	88801901	0.085000	0.21516	0.000000	0.03702	0.002000	0.02628	1.253000	0.32886	-0.045000	0.13468	-1.170000	0.01741	AGT		0.343	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		7	48	0	0	0	0.029380	0	7	48				
KIF27	55582	broad.mit.edu	37	9	86495230	86495230	+	Silent	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr9:86495230C>T	ENST00000297814.2	-	11	2768	c.2625G>A	c.(2623-2625)cgG>cgA	p.R875R	KIF27_ENST00000334204.2_Silent_p.R875R|KIF27_ENST00000376347.1_Silent_p.R266R|KIF27_ENST00000413982.1_Intron	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	875					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TTTGCTGGTCCCGCTTAATTA	0.353																																						ENST00000297814.2																			0				breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						c.(2623-2625)cgG>cgA		kinesin family member 27							89.0	76.0	81.0					9																	86495230		2203	4296	6499	SO:0001819	synonymous_variant	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86495230C>T	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.2625G>A	9.37:g.86495230C>T						KIF27_ENST00000376347.1_Silent_p.R266R|KIF27_ENST00000334204.2_Silent_p.R875R|KIF27_ENST00000413982.1_Intron	p.R875R	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN			11	2768	-			875					B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Silent	SNP	ENST00000297814.2	37	c.2625G>A	CCDS6665.1																																																																																				0.353	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		4	77	0	0	0	0.014758	0	4	77				
FMO1	2326	broad.mit.edu	37	1	171249964	171249964	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:171249964C>T	ENST00000354841.4	+	5	798	c.667C>T	c.(667-669)Cga>Tga	p.R223*	FMO1_ENST00000367750.3_Nonsense_Mutation_p.R223*|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Nonsense_Mutation_p.R160*	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	223			R -> Q (in dbSNP:rs16864310). {ECO:0000269|Ref.2}.		NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	GGTGATCAGCCGAATCTTTGA	0.517																																						ENST00000354841.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27						c.(667-669)Cga>Tga		flavin containing monooxygenase 1							102.0	88.0	93.0					1																	171249964		2203	4300	6503	SO:0001587	stop_gained	2326				NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171249964C>T	M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.667C>T	1.37:g.171249964C>T	ENSP00000346901:p.Arg223*					FMO1_ENST00000402921.2_Nonsense_Mutation_p.R160*|FMO1_ENST00000367750.3_Nonsense_Mutation_p.R223*|FMO1_ENST00000469112.1_3'UTR	p.R223*			Q01740	FMO1_HUMAN			5	798	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		223		R -> Q (in dbSNP:rs16864310).			A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Nonsense_Mutation	SNP	ENST00000354841.4	37	c.667C>T	CCDS1294.1	.	.	.	.	.	.	.	.	.	.	C	37	6.495033	0.97612	.	.	ENSG00000010932	ENST00000367750;ENST00000402921;ENST00000354841	.	.	.	5.85	2.88	0.33553	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.6678	14.5101	0.67780	0.3749:0.6251:0.0:0.0	.	.	.	.	X	223;160;223	.	ENSP00000346901:R223X	R	+	1	2	FMO1	169516588	0.993000	0.37304	0.952000	0.39060	0.967000	0.64934	2.919000	0.48836	0.330000	0.23485	-0.262000	0.10625	CGA		0.517	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021		3	48	0	0	0	0.150653	0	3	48				
GPR158	57512	broad.mit.edu	37	10	25861578	25861578	+	Splice_Site	SNP	G	G	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr10:25861578G>T	ENST00000376351.3	+	7	1874	c.1515G>T	c.(1513-1515)agG>agT	p.R505S		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	505					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GCTTTTCTAGGGTTTTGAAGG	0.368																																						ENST00000376351.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.e7-1		G protein-coupled receptor 158							205.0	187.0	193.0					10																	25861578		2203	4300	6503	SO:0001630	splice_region_variant	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25861578G>T	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1515-1G>T	10.37:g.25861578G>T							p.R505_splice	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			7	1874	+			505					Q6QR81|Q9ULT3	Splice_Site	SNP	ENST00000376351.3	37	c.1514_splice	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225068	0.79576	.	.	ENSG00000151025	ENST00000376351	D	0.90261	-2.64	5.78	3.8	0.43715	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95214	0.8448	M	0.89785	3.06	0.80722	D	1	D	0.65815	0.995	D	0.67382	0.951	D	0.95198	0.8314	9	.	.	.	.	10.7198	0.46034	0.1655:0.0:0.8345:0.0	.	505	Q5T848	GP158_HUMAN	S	505	ENSP00000365529:R505S	.	R	+	3	2	GPR158	25901584	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.476000	0.53143	1.304000	0.44892	0.557000	0.71058	AGG		0.368	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110	Missense_Mutation	12	67	1	0	1.5842e-08	0.105934	1.75358e-08	12	67				
GDF10	2662	broad.mit.edu	37	10	48428782	48428782	+	Silent	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr10:48428782C>T	ENST00000224605.2	-	2	1369	c.1104G>A	c.(1102-1104)aaG>aaA	p.K368K		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	368					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CATCCCACTGCTTCCTCCGGG	0.572																																						ENST00000224605.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						c.(1102-1104)aaG>aaA		growth differentiation factor 10							101.0	86.0	91.0					10																	48428782		2203	4300	6503	SO:0001819	synonymous_variant	2662				growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr10:48428782C>T	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"""Endogenous ligands"""	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.1104G>A	10.37:g.48428782C>T							p.K368K	NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN			2	1369	-			368					Q5VSQ8|Q9UCX6	Silent	SNP	ENST00000224605.2	37	c.1104G>A	CCDS7220.1																																																																																				0.572	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962		26	39	0	0	0	0.116897	0	26	39				
CACNG5	27091	broad.mit.edu	37	17	64876725	64876725	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr17:64876725T>G	ENST00000533854.1	+	4	572	c.335T>G	c.(334-336)tTc>tGc	p.F112C	CACNG5_ENST00000169565.3_Missense_Mutation_p.F112C|CACNG5_ENST00000307139.3_Missense_Mutation_p.F112C			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	112					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			TTCTTCATGTTCATTGGGTTT	0.512																																						ENST00000533854.1																			0				NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24						c.(334-336)tTc>tGc		calcium channel, voltage-dependent, gamma subunit 5							297.0	225.0	250.0					17																	64876725		2203	4300	6503	SO:0001583	missense	27091				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity	g.chr17:64876725T>G	AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"""Calcium channel subunits"""	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.335T>G	17.37:g.64876725T>G	ENSP00000436836:p.Phe112Cys					CACNG5_ENST00000307139.3_Missense_Mutation_p.F112C|CACNG5_ENST00000169565.3_Missense_Mutation_p.F112C	p.F112C			Q9UF02	CCG5_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.61e-08)		4	572	+			112					A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Missense_Mutation	SNP	ENST00000533854.1	37	c.335T>G	CCDS11665.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.969068	0.74131	.	.	ENSG00000075429	ENST00000533854;ENST00000307139;ENST00000169565	D;D;D	0.88509	-2.39;-2.39;-2.39	3.67	3.67	0.42095	.	0.000000	0.85682	D	0.000000	D	0.91560	0.7334	M	0.79258	2.445	0.58432	D	0.999998	P	0.48694	0.914	P	0.53450	0.726	D	0.91220	0.5006	10	0.44086	T	0.13	-15.4389	12.1726	0.54167	0.0:0.0:0.0:1.0	.	112	Q9UF02	CCG5_HUMAN	C	112	ENSP00000436836:F112C;ENSP00000303092:F112C;ENSP00000169565:F112C	ENSP00000169565:F112C	F	+	2	0	CACNG5	62307187	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.602000	0.82796	1.599000	0.50093	0.482000	0.46254	TTC		0.512	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389882.1	NM_014404, NM_145811		21	78	0	0	0	0.062417	0	21	78				
CD1D	912	broad.mit.edu	37	1	158152716	158152716	+	Missense_Mutation	SNP	G	G	A	rs199860570		TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:158152716G>A	ENST00000368171.3	+	5	1155	c.656G>A	c.(655-657)cGt>cAt	p.R219H		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	219	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GGCCCTGGCCGTCTGCTGCTG	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		17566	0.001		0.0	False		,,,				2504	0.0					ENST00000368171.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30						c.(655-657)cGt>cAt		CD1d molecule							85.0	85.0	85.0					1																	158152716		2203	4300	6503	SO:0001583	missense	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158152716G>A	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.656G>A	1.37:g.158152716G>A	ENSP00000357153:p.Arg219His						p.R219H	NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN			5	1155	+	all_hematologic(112;0.0378)		219			Ig-like.		D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Missense_Mutation	SNP	ENST00000368171.3	37	c.656G>A	CCDS1173.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.606585	0.28623	.	.	ENSG00000158473	ENST00000368171	T	0.13901	2.55	5.18	-0.738	0.11125	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (1);	0.528179	0.17322	N	0.178449	T	0.01592	0.0051	N	0.13043	0.29	0.26068	N	0.981252	B	0.21688	0.059	B	0.14578	0.011	T	0.46527	-0.9185	10	0.19147	T	0.46	-1.3462	4.2679	0.10771	0.4919:0.1772:0.3308:0.0	.	219	P15813	CD1D_HUMAN	H	219	ENSP00000357153:R219H	ENSP00000357153:R219H	R	+	2	0	CD1D	156419340	0.000000	0.05858	0.998000	0.56505	0.830000	0.47004	-1.412000	0.02476	0.204000	0.20548	-0.751000	0.03497	CGT		0.592	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		12	95	0	0	0	0.093190	0	12	95				
HEATR9	256957	broad.mit.edu	37	17	34185484	34185484	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr17:34185484C>T	ENST00000311880.2	-	10	1133	c.985G>A	c.(985-987)Gtc>Atc	p.V329I	C17orf66_ENST00000592980.1_Missense_Mutation_p.V289I	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		329					hematopoietic progenitor cell differentiation (GO:0002244)					breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		GCCTTGATGACTGGGGCTGAG	0.572																																						ENST00000311880.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38						c.(985-987)Gtc>Atc		chromosome 17 open reading frame 66							126.0	85.0	99.0					17																	34185484		2203	4300	6503	SO:0001583	missense	256957						binding	g.chr17:34185484C>T																												ENST00000311880.2:c.985G>A	17.37:g.34185484C>T	ENSP00000309560:p.Val329Ile					C17orf66_ENST00000592980.1_Missense_Mutation_p.V289I	p.V329I	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	10	1133	-		Ovarian(249;0.17)	329					B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Missense_Mutation	SNP	ENST00000311880.2	37	c.985G>A	CCDS11299.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.616930	0.28801	.	.	ENSG00000172653	ENST00000311880	T	0.48522	0.81	4.02	3.05	0.35203	Armadillo-like helical (1);Armadillo-type fold (1);	0.219636	0.23724	N	0.045181	T	0.31796	0.0808	L	0.32530	0.975	0.09310	N	1	B;B;B	0.31931	0.347;0.347;0.235	B;B;B	0.31812	0.136;0.094;0.064	T	0.10268	-1.0637	10	0.32370	T	0.25	.	6.8944	0.24247	0.0:0.8756:0.0:0.1244	.	295;289;329	A2RTY3-4;A2RTY3-3;A2RTY3	.;.;CQ066_HUMAN	I	329	ENSP00000309560:V329I	ENSP00000309560:V329I	V	-	1	0	C17orf66	31209597	0.809000	0.29036	0.374000	0.26016	0.851000	0.48451	1.144000	0.31565	2.235000	0.73313	0.305000	0.20034	GTC		0.572	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1			3	24	0	0	0	0.115264	0	3	24				
ALKBH8	91801	broad.mit.edu	37	11	107427562	107427562	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr11:107427562G>A	ENST00000428149.2	-	3	448	c.297C>T	c.(295-297)acC>acT	p.T99T	ALKBH8_ENST00000530933.1_5'UTR|ALKBH8_ENST00000429370.1_Silent_p.T99T|ALKBH8_ENST00000389568.3_Silent_p.T99T|ALKBH8_ENST00000417449.2_Silent_p.T102T	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	99	RRM.				cellular response to DNA damage stimulus (GO:0006974)|tRNA methylation (GO:0030488)	cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|RNA binding (GO:0003723)|tRNA (uracil) methyltransferase activity (GO:0016300)			breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		TTCCATTGAGGGTAACATAGG	0.348																																						ENST00000428149.2																			0				breast(2)|large_intestine(2)|lung(5)	9						c.(295-297)acC>acT		alkB, alkylation repair homolog 8 (E. coli)							119.0	109.0	112.0					11																	107427562		2201	4298	6499	SO:0001819	synonymous_variant	91801				response to DNA damage stimulus	cytosol|nucleus	metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity	g.chr11:107427562G>A	AF086489	CCDS8337.2, CCDS73376.1	11q22.3	2013-10-04			ENSG00000137760	ENSG00000137760	2.1.1.229	"""Alkylation repair homologs"", ""RNA binding motif (RRM) containing"""	25189	protein-coding gene	gene with protein product		613306				20123966	Standard	NM_138775		Approved	MGC10235	uc009yxp.3	Q96BT7	OTTHUMG00000157008	ENST00000428149.2:c.297C>T	11.37:g.107427562G>A						ALKBH8_ENST00000417449.2_Silent_p.T102T|ALKBH8_ENST00000429370.1_Silent_p.T99T|ALKBH8_ENST00000530933.1_5'UTR|ALKBH8_ENST00000389568.3_Silent_p.T99T	p.T99T	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)	3	448	-		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)	99			RRM.		B1Q2M0|B4DEF6|Q8N989	Silent	SNP	ENST00000428149.2	37	c.297C>T	CCDS8337.2																																																																																				0.348	ALKBH8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347071.2	NM_138775		5	33	0	0	0	0.014758	0	5	33				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																653390							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		8	39	0	0	0	0.058154	0	8	39				
AKT3	10000	broad.mit.edu	37	1	243809217	243809217	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:243809217G>C	ENST00000366539.1	-	5	607	c.407C>G	c.(406-408)tCt>tGt	p.S136C	AKT3_ENST00000263826.5_Missense_Mutation_p.S136C|AKT3_ENST00000366540.1_Missense_Mutation_p.S136C|AKT3_ENST00000336199.5_Missense_Mutation_p.S136C			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	136					mitochondrial genome maintenance (GO:0000002)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			ATGGGTTGTAGAGGCATCCAT	0.383																																						ENST00000366539.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						c.(406-408)tCt>tGt		v-akt murine thymoma viral oncogene homolog 3							191.0	187.0	189.0					1																	243809217		2203	4300	6503	SO:0001583	missense	10000				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:243809217G>C	AF124141	CCDS31076.1, CCDS31077.1	1q44	2013-07-09	2013-07-09		ENSG00000117020	ENSG00000117020	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	393	protein-coding gene	gene with protein product	"""protein kinase B, gamma"""	611223				10092583, 10208883	Standard	NM_005465		Approved	PKBG, RAC-gamma, PRKBG	uc001iab.2	Q9Y243	OTTHUMG00000039994	ENST00000366539.1:c.407C>G	1.37:g.243809217G>C	ENSP00000355497:p.Ser136Cys					AKT3_ENST00000263826.5_Missense_Mutation_p.S136C|AKT3_ENST00000336199.5_Missense_Mutation_p.S136C|AKT3_ENST00000366540.1_Missense_Mutation_p.S136C	p.S136C			Q9Y243	AKT3_HUMAN	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)		5	607	-	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	136					Q0VAA6|Q5VTI1|Q5VTI2|Q96QV3|Q9UFP5	Missense_Mutation	SNP	ENST00000366539.1	37	c.407C>G	CCDS31077.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911570	0.52439	.	.	ENSG00000117020	ENST00000336199;ENST00000366540;ENST00000366539;ENST00000263826;ENST00000552631	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;2.06	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.29093	0.0723	N	0.08118	0	0.58432	D	0.999999	B;B	0.17038	0.003;0.02	B;B	0.20767	0.005;0.031	T	0.13150	-1.0520	10	0.72032	D	0.01	.	18.519	0.90944	0.0:0.0:1.0:0.0	.	136;136	Q9Y243;Q9Y243-2	AKT3_HUMAN;.	C	136	ENSP00000336943:S136C;ENSP00000355498:S136C;ENSP00000355497:S136C;ENSP00000263826:S136C;ENSP00000447820:S136C	ENSP00000263826:S136C	S	-	2	0	AKT3	241875840	1.000000	0.71417	0.996000	0.52242	0.973000	0.67179	8.062000	0.89475	2.361000	0.80049	0.591000	0.81541	TCT		0.383	AKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096479.1	NM_181690		8	61	0	0	0	0.038147	0	8	61				
PMFBP1	83449	broad.mit.edu	37	16	72173223	72173223	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr16:72173223G>A	ENST00000237353.10	-	7	1144	c.883C>T	c.(883-885)Cct>Tct	p.P295S	PMFBP1_ENST00000537465.1_Missense_Mutation_p.P295S|PMFBP1_ENST00000355636.6_Missense_Mutation_p.P150S	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	295						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GAGGAGCTAGGAGGGTATCTG	0.463																																						ENST00000537465.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45						c.(883-885)Cct>Tct		polyamine modulated factor 1 binding protein 1							146.0	127.0	133.0					16																	72173223		2198	4300	6498	SO:0001583	missense	83449							g.chr16:72173223G>A	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.883C>T	16.37:g.72173223G>A	ENSP00000237353:p.Pro295Ser					PMFBP1_ENST00000237353.10_Missense_Mutation_p.P295S|PMFBP1_ENST00000355636.6_Missense_Mutation_p.P150S	p.P295S			Q8TBY8	PMFBP_HUMAN			7	1041	-		Ovarian(137;0.179)	295					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000237353.10	37	c.883C>T	CCDS32483.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.869223	0.51588	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636	T;T;T	0.11930	2.74;2.74;2.73	5.62	1.98	0.26296	.	0.000000	0.49305	D	0.000141	T	0.05777	0.0151	N	0.24115	0.695	0.09310	N	1	B;B;B	0.28998	0.23;0.093;0.093	B;B;B	0.28784	0.094;0.094;0.094	T	0.27640	-1.0068	10	0.09590	T	0.72	-2.1588	1.1153	0.01713	0.2228:0.1678:0.4355:0.1738	.	295;295;295	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	S	295;295;150	ENSP00000443817:P295S;ENSP00000237353:P295S;ENSP00000347854:P150S	ENSP00000237353:P295S	P	-	1	0	PMFBP1	70730724	0.931000	0.31567	0.996000	0.52242	0.545000	0.35147	0.873000	0.28052	1.379000	0.46325	0.655000	0.94253	CCT		0.463	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293		4	15	0	0	0	0.150653	0	4	15				
ZNF518B	85460	broad.mit.edu	37	4	10444982	10444982	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr4:10444982G>A	ENST00000326756.3	-	3	3409	c.2971C>T	c.(2971-2973)Cgc>Tgc	p.R991C		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	991					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TAGGTCAGGCGTACATGATGC	0.383																																						ENST00000326756.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						c.(2971-2973)Cgc>Tgc		zinc finger protein 518B							114.0	106.0	109.0					4																	10444982		2203	4300	6503	SO:0001583	missense	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10444982G>A	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2971C>T	4.37:g.10444982G>A	ENSP00000317614:p.Arg991Cys						p.R991C	NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN			3	3409	-			991					Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.2971C>T	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.898165	0.52227	.	.	ENSG00000178163	ENST00000326756	T	0.01821	4.62	6.17	6.17	0.99709	.	0.253503	0.33792	N	0.004558	T	0.02230	0.0069	L	0.50333	1.59	0.41240	D	0.986633	D	0.55172	0.97	B	0.34873	0.191	T	0.54098	-0.8344	10	0.87932	D	0	-14.1305	13.0796	0.59107	0.0723:0.0:0.9277:0.0	.	991	Q9C0D4	Z518B_HUMAN	C	991	ENSP00000317614:R991C	ENSP00000317614:R991C	R	-	1	0	ZNF518B	10054080	0.073000	0.21202	0.131000	0.22000	0.272000	0.26649	2.076000	0.41548	2.941000	0.99782	0.655000	0.94253	CGC		0.383	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		16	51	0	0	0	0.160694	0	16	51				
ABCA17P	650655	broad.mit.edu	37	16	2436242	2436242	+	RNA	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr16:2436242C>T	ENST00000469908.1	+	0	1497					NR_003574.1				ATP-binding cassette, sub-family A (ABC1), member 17, pseudogene																		GCATCGCCCTCATCGCAGGCT	0.642																																						ENST00000469908.1																			0																																																			650655							g.chr16:2436242C>T	DQ266102		16p13.3	2012-03-14	2010-03-12		ENSG00000238098	ENSG00000238098		"""ATP binding cassette transporters / subfamily A"""	32972	pseudogene	pseudogene						16968533	Standard	NR_003574		Approved		uc002cqc.1		OTTHUMG00000154348		16.37:g.2436242C>T								NR_003574.1						0	1497	+									RNA	SNP	ENST00000469908.1	37																																																																																						0.642	ABCA17P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000334904.1	NR_003574		5	23	0	0	0	0.014758	0	5	23				
TCTE1	202500	broad.mit.edu	37	6	44253954	44253954	+	Missense_Mutation	SNP	G	G	A	rs374735103		TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr6:44253954G>A	ENST00000371505.4	-	3	715	c.593C>T	c.(592-594)cCg>cTg	p.P198L	TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_Missense_Mutation_p.P45L|TCTE1_ENST00000371503.3_Missense_Mutation_p.P45L|RP11-444E17.6_ENST00000505802.1_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	198										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTGCACCGGCGGAAGGAACTG	0.657																																						ENST00000371505.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(592-594)cCg>cTg		t-complex-associated-testis-expressed 1		G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	41.0	42.0	42.0		593	4.7	0.8	6		42	0,8600		0,0,4300	no	missense	TCTE1	NM_182539.3	98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	198/502	44253954	1,13005	2203	4300	6503	SO:0001583	missense	202500							g.chr6:44253954G>A	BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.593C>T	6.37:g.44253954G>A	ENSP00000360560:p.Pro198Leu					TCTE1_ENST00000371504.1_Missense_Mutation_p.P45L|TCTE1_ENST00000371503.3_Missense_Mutation_p.P45L|TMEM151B_ENST00000438774.2_Intron	p.P198L	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		3	715	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		198					B4DX59|Q8IYS6	Missense_Mutation	SNP	ENST00000371505.4	37	c.593C>T	CCDS4910.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.898983	0.72754	2.27E-4	0.0	ENSG00000146221	ENST00000371505;ENST00000371503;ENST00000371504	T;T;T	0.62498	1.83;0.02;0.02	4.7	4.7	0.59300	.	0.103999	0.64402	D	0.000002	T	0.71213	0.3313	M	0.83223	2.63	0.80722	D	1	D	0.65815	0.995	P	0.54238	0.746	T	0.78445	-0.2201	10	0.87932	D	0	-24.9974	17.6208	0.88080	0.0:0.0:1.0:0.0	.	198	Q5JU00	TCTE1_HUMAN	L	198;45;45	ENSP00000360560:P198L;ENSP00000360558:P45L;ENSP00000360559:P45L	ENSP00000360558:P45L	P	-	2	0	TCTE1	44361932	1.000000	0.71417	0.830000	0.32933	0.399000	0.30720	7.220000	0.78008	2.157000	0.67596	0.462000	0.41574	CCG		0.657	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539		6	33	0	0	0	0.029380	0	6	33				
GRM8	2918	broad.mit.edu	37	7	126883115	126883115	+	Silent	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr7:126883115C>T	ENST00000339582.2	-	2	952	c.144G>A	c.(142-144)ttG>ttA	p.L48L	GRM8_ENST00000405249.1_Silent_p.L48L|GRM8_ENST00000444921.2_Silent_p.L48L|GRM8_ENST00000358373.3_Silent_p.L48L			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	48					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				AGAGACCCCCCAAAATAATGT	0.527										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(142-144)ttG>ttA		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						92.0	90.0	91.0					7																	126883115		2203	4300	6503	SO:0001819	synonymous_variant	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126883115C>T		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.144G>A	7.37:g.126883115C>T		HNSCC(24;0.065)				GRM8_ENST00000358373.3_Silent_p.L48L|GRM8_ENST00000444921.2_Silent_p.L48L|GRM8_ENST00000405249.1_Silent_p.L48L	p.L48L			O00222	GRM8_HUMAN			2	952	-		Prostate(267;0.186)	48					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.144G>A	CCDS5794.1																																																																																				0.527	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			13	84	0	0	0	0.160694	0	13	84				
ERICH1	157697	broad.mit.edu	37	8	614671	614671	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr8:614671C>T	ENST00000262109.7	-	6	1341	c.1264G>A	c.(1264-1266)Gcc>Acc	p.A422T	ERICH1_ENST00000522706.1_Intron	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	422										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		ATTACTCTGGCATGGTCTAGA	0.348																																						ENST00000262109.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20						c.(1264-1266)Gcc>Acc		glutamate-rich 1							84.0	87.0	86.0					8																	614671		2203	4300	6503	SO:0001583	missense	157697							g.chr8:614671C>T		CCDS5955.1	8p23.3	2005-09-01			ENSG00000104714	ENSG00000104714			27234	protein-coding gene	gene with protein product							Standard	NM_207332		Approved		uc003wph.3	Q86X53	OTTHUMG00000129163	ENST00000262109.7:c.1264G>A	8.37:g.614671C>T	ENSP00000262109:p.Ala422Thr					ERICH1_ENST00000522706.1_Intron	p.A422T	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)	6	1341	-		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)	422					A8K2J9|Q9P063	Missense_Mutation	SNP	ENST00000262109.7	37	c.1264G>A	CCDS5955.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.746616	0.49257	.	.	ENSG00000104714	ENST00000262109	T	0.33438	1.41	5.88	2.99	0.34606	.	0.249881	0.31589	N	0.007386	T	0.23410	0.0566	L	0.40543	1.245	0.18873	N	0.999984	P	0.37370	0.592	B	0.41271	0.352	T	0.07673	-1.0760	10	0.29301	T	0.29	-10.7712	4.7087	0.12861	0.1728:0.6511:0.0:0.1761	.	422	Q86X53	ERIC1_HUMAN	T	422	ENSP00000262109:A422T	ENSP00000262109:A422T	A	-	1	0	ERICH1	604671	0.880000	0.30214	0.628000	0.29241	0.931000	0.56810	0.375000	0.20518	0.832000	0.34804	0.655000	0.94253	GCC		0.348	ERICH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251228.3	NM_207332		4	43	0	0	0	0.150653	0	4	43				
LRRC8D	55144	broad.mit.edu	37	1	90400516	90400516	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:90400516G>C	ENST00000337338.5	+	3	2296	c.1889G>C	c.(1888-1890)aGc>aCc	p.S630T	LRRC8D_ENST00000394593.3_Missense_Mutation_p.S630T	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	630					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GTACTGAACAGCCTTAAGAAA	0.418																																						ENST00000337338.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29						c.(1888-1890)aGc>aCc		leucine rich repeat containing 8 family, member D							73.0	72.0	72.0					1																	90400516		2203	4300	6503	SO:0001583	missense	55144					integral to membrane	protein binding	g.chr1:90400516G>C	AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"""leucine rich repeat containing 5"""	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.1889G>C	1.37:g.90400516G>C	ENSP00000338887:p.Ser630Thr					LRRC8D_ENST00000394593.3_Missense_Mutation_p.S630T	p.S630T	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN		all cancers(265;0.0109)|Epithelial(280;0.0427)	3	2296	+		all_lung(203;0.0894)|Lung NSC(277;0.227)	630					D3DT29|Q6UWB2|Q9NVW3	Missense_Mutation	SNP	ENST00000337338.5	37	c.1889G>C	CCDS726.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.174637	0.38413	.	.	ENSG00000171492	ENST00000337338;ENST00000394593	T;T	0.26067	1.76;1.76	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.22898	0.0553	L	0.59436	1.845	0.58432	D	0.999997	P	0.38420	0.63	B	0.40602	0.334	T	0.01156	-1.1434	9	.	.	.	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	630	Q7L1W4	LRC8D_HUMAN	T	630	ENSP00000338887:S630T;ENSP00000378093:S630T	.	S	+	2	0	LRRC8D	90173104	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.753000	0.74904	2.884000	0.98904	0.655000	0.94253	AGC		0.418	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103		6	65	0	0	0	0.021553	0	6	65				
ZBTB39	9880	broad.mit.edu	37	12	57396829	57396829	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr12:57396829G>A	ENST00000300101.2	-	2	1958	c.1873C>T	c.(1873-1875)Cgg>Tgg	p.R625W		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	625					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						GTGTGGATCCGCCGGTGGTAG	0.557																																						ENST00000300101.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						c.(1873-1875)Cgg>Tgg		zinc finger and BTB domain containing 39							78.0	69.0	72.0					12																	57396829		2203	4300	6503	SO:0001583	missense	9880				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:57396829G>A	AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.1873C>T	12.37:g.57396829G>A	ENSP00000300101:p.Arg625Trp						p.R625W	NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN			2	1958	-			625					A7MD38|Q9UD98	Missense_Mutation	SNP	ENST00000300101.2	37	c.1873C>T	CCDS31839.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550832	0.65311	.	.	ENSG00000166860	ENST00000300101	T	0.25579	1.79	5.7	4.79	0.61399	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.62756	0.2454	H	0.95260	3.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74799	-0.3542	10	0.87932	D	0	-15.2935	13.5878	0.61942	0.0:0.0:0.8435:0.1564	.	625	O15060	ZBT39_HUMAN	W	625	ENSP00000300101:R625W	ENSP00000300101:R625W	R	-	1	2	ZBTB39	55683096	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.927000	0.56499	1.354000	0.45846	0.655000	0.94253	CGG		0.557	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	NM_014830		9	70	0	0	0	0.047766	0	9	70				
SYNE1	23345	broad.mit.edu	37	6	152651117	152651117	+	Silent	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr6:152651117C>T	ENST00000367255.5	-	78	15304	c.14703G>A	c.(14701-14703)agG>agA	p.R4901R	SYNE1_ENST00000265368.4_Silent_p.R4901R|SYNE1_ENST00000341594.5_Silent_p.R4648R|SYNE1_ENST00000448038.1_Silent_p.R4830R|SYNE1_ENST00000423061.1_Silent_p.R4830R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4901					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTTCACTCTCCTCAGCCAGT	0.517										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(14701-14703)agG>agA		spectrin repeat containing, nuclear envelope 1							124.0	122.0	122.0					6																	152651117		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152651117C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.14703G>A	6.37:g.152651117C>T		HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Silent_p.R4830R|SYNE1_ENST00000341594.5_Silent_p.R4648R|SYNE1_ENST00000265368.4_Silent_p.R4901R|SYNE1_ENST00000423061.1_Silent_p.R4830R	p.R4901R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	15304	-		Ovarian(120;0.0955)	4901					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.14703G>A	CCDS5236.2																																																																																				0.517	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		23	59	0	0	0	0.062417	0	23	59				
ITIH4	3700	broad.mit.edu	37	3	52860947	52860947	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr3:52860947G>A	ENST00000266041.4	-	4	475	c.379C>T	c.(379-381)Cag>Tag	p.Q127*	ITIH4_ENST00000346281.5_Nonsense_Mutation_p.Q127*|ITIH4_ENST00000434759.3_Nonsense_Mutation_p.Q39*|ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000485816.1_Nonsense_Mutation_p.Q127*|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000406595.1_Nonsense_Mutation_p.Q127*|RP5-966M1.6_ENST00000513520.1_5'Flank	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	127	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACCTGGAACTGCTCCATGTTT	0.607																																						ENST00000266041.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30						c.(379-381)Cag>Tag		inter-alpha-trypsin inhibitor heavy chain family, member 4							84.0	86.0	85.0					3																	52860947		2203	4300	6503	SO:0001587	stop_gained	3700				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52860947G>A	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.379C>T	3.37:g.52860947G>A	ENSP00000266041:p.Gln127*					ITIH4_ENST00000434759.3_Nonsense_Mutation_p.Q39*|ITIH4_ENST00000406595.1_Nonsense_Mutation_p.Q127*|ITIH4_ENST00000346281.5_Nonsense_Mutation_p.Q127*|ITIH4_ENST00000485816.1_Nonsense_Mutation_p.Q127*	p.Q127*	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	4	475	-			127			VIT.		B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Nonsense_Mutation	SNP	ENST00000266041.4	37	c.379C>T	CCDS2865.1	.	.	.	.	.	.	.	.	.	.	G	34	5.387222	0.95988	.	.	ENSG00000055955	ENST00000266041;ENST00000346281;ENST00000485816;ENST00000406595;ENST00000538421;ENST00000434759	.	.	.	5.4	-0.514	0.11958	.	0.842110	0.10478	N	0.670001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.8805	11.5662	0.50807	0.0:0.4229:0.3601:0.2169	.	.	.	.	X	127;127;127;127;127;39	.	ENSP00000266041:Q127X	Q	-	1	0	ITIH4	52835987	0.971000	0.33674	0.998000	0.56505	0.936000	0.57629	0.090000	0.15025	0.213000	0.20722	0.561000	0.74099	CAG		0.607	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		9	41	0	0	0	0.069234	0	9	41				
MSLNL	401827	broad.mit.edu	37	16	830539	830539	+	Intron	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr16:830539C>T	ENST00000442466.1	-	2	37				MSLNL_ENST00000293892.3_Silent_p.P154P			Q96KJ4	MSLNL_HUMAN	mesothelin-like						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						ACAGTGTGCACGGGTAGGTGA	0.562																																						ENST00000293892.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						c.(460-462)ccG>ccA		mesothelin-like							300.0	258.0	273.0					16																	830539		2175	4256	6431	SO:0001627	intron_variant	401827				cell adhesion	integral to membrane		g.chr16:830539C>T			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.38-377G>A	16.37:g.830539C>T						MSLNL_ENST00000442466.1_Intron	p.P154P			Q96KJ4	MSLNL_HUMAN			3	461	-			0						Silent	SNP	ENST00000442466.1	37	c.462G>A																																																																																					0.562	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		12	93	0	0	0	0.105934	0	12	93				
GPR63	81491	broad.mit.edu	37	6	97246956	97246956	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr6:97246956G>A	ENST00000229955.3	-	2	997	c.652C>T	c.(652-654)Ccc>Tcc	p.P218S	GPR63_ENST00000417980.1_Missense_Mutation_p.P218S	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	218						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		TGCAGGTCGGGGTTTCCTACG	0.463																																						ENST00000229955.3																			0				kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(652-654)Ccc>Tcc		G protein-coupled receptor 63							74.0	76.0	76.0					6																	97246956		2203	4300	6503	SO:0001583	missense	81491					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr6:97246956G>A	AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"""GPCR / Class A : Orphans"""	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.652C>T	6.37:g.97246956G>A	ENSP00000229955:p.Pro218Ser					GPR63_ENST00000417980.1_Missense_Mutation_p.P218S	p.P218S	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0912)	2	997	-		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)	218					Q9UJH3	Missense_Mutation	SNP	ENST00000229955.3	37	c.652C>T	CCDS5036.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.096449	0.36952	.	.	ENSG00000112218	ENST00000536583;ENST00000417980;ENST00000229955;ENST00000369268	T;T;T	0.70399	-0.48;-0.48;-0.48	5.3	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.43233	0.1238	N	0.24115	0.695	0.80722	D	1	B	0.32862	0.387	B	0.35859	0.212	T	0.43360	-0.9396	10	0.20046	T	0.44	-6.0281	15.6871	0.77421	0.0:0.0:0.8619:0.1381	.	218	Q9BZJ6	GPR63_HUMAN	S	242;218;218;218	ENSP00000393170:P218S;ENSP00000229955:P218S;ENSP00000358273:P218S	ENSP00000229955:P218S	P	-	1	0	GPR63	97353677	1.000000	0.71417	0.848000	0.33437	0.870000	0.49936	9.420000	0.97426	1.362000	0.46000	0.650000	0.86243	CCC		0.463	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041566.2			11	52	0	0	0	0.069234	0	11	52				
SLC25A35	399512	broad.mit.edu	37	17	8197904	8197904	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr17:8197904G>A	ENST00000577745.1	-	1	732	c.222C>T	c.(220-222)ttC>ttT	p.F74F	SLC25A35_ENST00000380067.2_Silent_p.F74F|SLC25A35_ENST00000579192.1_Silent_p.F74F|SLC25A35_ENST00000396278.1_Silent_p.F74F|SLC25A35_ENST00000580340.1_Silent_p.F74F			Q3KQZ1	S2535_HUMAN	solute carrier family 25, member 35	74					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(2)|large_intestine(2)|lung(2)	6						CATTCATCAGGAACTGGTACA	0.627																																						ENST00000380067.2																			0				breast(2)|large_intestine(2)|lung(2)	6						c.(220-222)ttC>ttT		solute carrier family 25, member 35							51.0	49.0	50.0					17																	8197904		2203	4300	6503	SO:0001819	synonymous_variant	399512				transport	integral to membrane|mitochondrial inner membrane		g.chr17:8197904G>A	AY498866	CCDS11138.1	17p13.1	2013-05-22			ENSG00000125434	ENSG00000125434		"""Solute carriers"""	31921	protein-coding gene	gene with protein product		610818					Standard	NM_201520		Approved	FLJ40217	uc002gku.1	Q3KQZ1		ENST00000577745.1:c.222C>T	17.37:g.8197904G>A						SLC25A35_ENST00000580340.1_Silent_p.F74F|SLC25A35_ENST00000396278.1_Silent_p.F74F|SLC25A35_ENST00000579192.1_Silent_p.F74F|SLC25A35_ENST00000577745.1_Silent_p.F74F	p.F74F	NM_201520.1	NP_958928.1	Q3KQZ1	S2535_HUMAN			1	266	-			74					Q494X5|Q6RGS3|Q8N7Y5	Silent	SNP	ENST00000577745.1	37	c.222C>T																																																																																					0.627	SLC25A35-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442146.1	NM_201520		9	37	0	0	0	0.080935	0	9	37				
TLDC1	57707	broad.mit.edu	37	16	84520288	84520288	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr16:84520288C>A	ENST00000343629.6	-	5	1089	c.907G>T	c.(907-909)Gtg>Ttg	p.V303L	TLDC1_ENST00000535580.1_Missense_Mutation_p.V276L|TLDC1_ENST00000561807.1_5'Flank	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	303	TLD.					lysosomal membrane (GO:0005765)											CCACCGAACACATGCTTGTCA	0.562																																						ENST00000343629.6																			0											c.(907-909)Gtg>Ttg		TBC/LysM-associated domain containing 1							94.0	81.0	86.0					16																	84520288		2200	4300	6500	SO:0001583	missense	57707							g.chr16:84520288C>A	AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"""TLD domain containing 1"""		"""KIAA1609"""	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.907G>T	16.37:g.84520288C>A	ENSP00000343635:p.Val303Leu					TLDC1_ENST00000535580.1_Missense_Mutation_p.V276L	p.V303L	NM_020947.3	NP_065998.3					5	1089	-								Q8IZ64|Q9HCG3|Q9NTE8	Missense_Mutation	SNP	ENST00000343629.6	37	c.907G>T	CCDS32498.1	.	.	.	.	.	.	.	.	.	.	C	9.650	1.141394	0.21205	.	.	ENSG00000140950	ENST00000343629;ENST00000535580	T;T	0.48522	0.81;0.81	5.32	2.28	0.28536	TLDc (2);	0.246094	0.40064	N	0.001194	T	0.47135	0.1429	M	0.76838	2.35	0.29213	N	0.874435	B;B	0.33448	0.412;0.222	B;B	0.37943	0.104;0.261	T	0.50162	-0.8860	10	0.51188	T	0.08	-35.9039	6.1792	0.20461	0.0:0.5974:0.1414:0.2612	.	276;303	F5GWS3;Q6P9B6	.;K1609_HUMAN	L	303;276	ENSP00000343635:V303L;ENSP00000441997:V276L	ENSP00000343635:V303L	V	-	1	0	KIAA1609	83077789	0.257000	0.24022	0.718000	0.30602	0.037000	0.13140	0.713000	0.25794	1.232000	0.43678	0.655000	0.94253	GTG		0.562	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1	NM_020947		5	42	1	0	0.014758	0.014758	0.0151012	5	42				
ANKLE2	23141	broad.mit.edu	37	12	133319798	133319798	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr12:133319798G>A	ENST00000357997.5	-	6	1384	c.1295C>T	c.(1294-1296)tCg>tTg	p.S432L	ANKLE2_ENST00000539605.1_Missense_Mutation_p.S370L|ANKLE2_ENST00000337516.5_Missense_Mutation_p.S432L	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	432					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)	p.S432L(1)		NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		ATGGTGTGACGAAAGCACGTT	0.353																																						ENST00000539605.1																			1	Substitution - Missense(1)	p.S432L(1)	large_intestine(1)	NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45						c.(1108-1110)tCg>tTg		ankyrin repeat and LEM domain containing 2							127.0	114.0	118.0					12																	133319798		1884	4104	5988	SO:0001583	missense	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133319798G>A	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.1295C>T	12.37:g.133319798G>A	ENSP00000350686:p.Ser432Leu					ANKLE2_ENST00000357997.5_Missense_Mutation_p.S432L|ANKLE2_ENST00000337516.5_Missense_Mutation_p.S432L	p.S370L			Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	5	7793	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	432					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	37	c.1109C>T	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	g	12.97	2.097258	0.37048	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516;ENST00000545623	T;T;T;T	0.54479	1.64;1.64;0.57;0.57	4.71	4.71	0.59529	Ankyrin repeat-containing domain (2);	0.218384	0.47093	D	0.000249	T	0.20941	0.0504	N	0.00041	-2.485	0.31442	N	0.671815	D;D	0.64830	0.993;0.994	P;P	0.51550	0.457;0.673	T	0.42816	-0.9429	10	0.27082	T	0.32	-12.0326	13.4826	0.61345	0.0:0.1571:0.8429:0.0	.	432;432	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	L	370;432;432;202	ENSP00000446268:S370L;ENSP00000350686:S432L;ENSP00000337651:S432L;ENSP00000438515:S202L	ENSP00000337651:S432L	S	-	2	0	ANKLE2	131829871	1.000000	0.71417	0.998000	0.56505	0.035000	0.12851	6.674000	0.74487	2.161000	0.67846	0.639000	0.83563	TCG		0.353	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			6	25	0	0	0	0.021553	0	6	25				
BAZ2B	29994	broad.mit.edu	37	2	160204060	160204060	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:160204060C>G	ENST00000392783.2	-	31	5886	c.5391G>C	c.(5389-5391)ttG>ttC	p.L1797F	BAZ2B_ENST00000355831.2_Missense_Mutation_p.L1763F|BAZ2B_ENST00000392782.1_Missense_Mutation_p.L1761F|BAZ2B_ENST00000343439.5_Missense_Mutation_p.L1697F	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1797					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GAAGGACACTCAAATCCATTT	0.353																																						ENST00000392783.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(5389-5391)ttG>ttC		bromodomain adjacent to zinc finger domain, 2B							176.0	160.0	165.0					2																	160204060		1875	4113	5988	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160204060C>G	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.5391G>C	2.37:g.160204060C>G	ENSP00000376534:p.Leu1797Phe					BAZ2B_ENST00000392782.1_Missense_Mutation_p.L1761F|BAZ2B_ENST00000355831.2_Missense_Mutation_p.L1763F|BAZ2B_ENST00000343439.5_Missense_Mutation_p.L1697F	p.L1797F	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN			31	5886	-			1797					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.5391G>C	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	10.34	1.324002	0.24080	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000426648	T;T;T;T	0.61742	0.16;0.14;0.16;0.08	5.65	3.85	0.44370	.	0.000000	0.29932	U	0.010839	T	0.59514	0.2199	L	0.52905	1.665	0.44168	D	0.996971	P;D	0.57899	0.928;0.981	P;P	0.52514	0.55;0.701	T	0.60485	-0.7254	10	0.72032	D	0.01	-1.0806	7.4986	0.27505	0.1645:0.6884:0.0:0.1471	.	1761;1797	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	F	1761;1797;1763;1697;15	ENSP00000376533:L1761F;ENSP00000376534:L1797F;ENSP00000348087:L1763F;ENSP00000339670:L1697F	ENSP00000339670:L1697F	L	-	3	2	BAZ2B	159912306	0.995000	0.38212	0.867000	0.34043	0.977000	0.68977	0.999000	0.29757	0.853000	0.35312	-0.251000	0.11542	TTG		0.353	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			3	56	0	0	0	0.115264	0	3	56				
VPS33B	26276	broad.mit.edu	37	15	91557634	91557634	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr15:91557634T>C	ENST00000333371.3	-	4	622	c.269A>G	c.(268-270)aAg>aGg	p.K90R	VPS33B_ENST00000535843.1_5'UTR|VPS33B_ENST00000557358.1_5'UTR|VPS33B_ENST00000535906.1_Missense_Mutation_p.K63R	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	90					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|membrane fusion (GO:0061025)|platelet alpha granule organization (GO:0070889)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule (GO:0031091)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					TCGCATATTCTTGATGCGGGG	0.428																																						ENST00000333371.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16						c.(268-270)aAg>aGg		vacuolar protein sorting 33 homolog B (yeast)							212.0	202.0	206.0					15																	91557634		2198	4298	6496	SO:0001583	missense	26276				cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding	g.chr15:91557634T>C	AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056			12712	protein-coding gene	gene with protein product		608552	"""vacuolar protein sorting 33B (yeast homolog)"""			8996080	Standard	XM_005254887		Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.269A>G	15.37:g.91557634T>C	ENSP00000327650:p.Lys90Arg					VPS33B_ENST00000557358.1_5'UTR|VPS33B_ENST00000535843.1_5'UTR|VPS33B_ENST00000535906.1_Missense_Mutation_p.K63R	p.K90R	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN			4	622	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		90					B3KQF6|Q96K14|Q9NRP6|Q9NSF3	Missense_Mutation	SNP	ENST00000333371.3	37	c.269A>G	CCDS10369.1	.	.	.	.	.	.	.	.	.	.	T	11.07	1.530509	0.27387	.	.	ENSG00000184056	ENST00000333371;ENST00000535906;ENST00000537510	T;T	0.77620	-1.11;-1.11	5.11	1.45	0.22620	.	0.293466	0.36482	N	0.002562	T	0.53029	0.1771	N	0.10874	0.06	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.25398	-1.0133	10	0.17832	T	0.49	-25.4675	7.2723	0.26264	0.0:0.3437:0.0:0.6563	.	63;90	F5H008;Q9H267	.;VP33B_HUMAN	R	90;63;45	ENSP00000327650:K90R;ENSP00000444053:K63R	ENSP00000327650:K90R	K	-	2	0	VPS33B	89358638	0.990000	0.36364	0.998000	0.56505	0.992000	0.81027	-0.065000	0.11617	0.409000	0.25649	0.533000	0.62120	AAG		0.428	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313496.1	NM_018668		33	144	0	0	0	0.074837	0	33	144				
COL11A2	1302	broad.mit.edu	37	6	33156845	33156845	+	Missense_Mutation	SNP	C	C	G	rs41268014	byFrequency	TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr6:33156845C>G	ENST00000374708.4	-	3	611	c.353G>C	c.(352-354)cGa>cCa	p.R118P	COL11A2_ENST00000374714.1_Missense_Mutation_p.R118P|COL11A2_ENST00000361917.1_Missense_Mutation_p.R118P|COL11A2_ENST00000341947.2_Missense_Mutation_p.R118P|COL11A2_ENST00000395194.1_Missense_Mutation_p.R118P|COL11A2_ENST00000374713.1_Missense_Mutation_p.R118P|COL11A2_ENST00000395197.1_Missense_Mutation_p.R118P|COL11A2_ENST00000374712.1_Missense_Mutation_p.R118P|COL11A2_ENST00000357486.1_Missense_Mutation_p.R118P	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	118	Laminin G-like.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GCGGACAGGTCGGCCCAGCTC	0.617													C|||	4	0.000798722	0.0	0.0	5008	,	,		16970	0.0		0.004	False		,,,				2504	0.0				Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(352-354)cGa>cCa		collagen, type XI, alpha 2		C	PRO/ARG,PRO/ARG,PRO/ARG,PRO/ARG	1,4405		0,1,2202	63.0	73.0	69.0		353,353,353,353	2.6	1.0	6	dbSNP_127	69	12,8588	9.1+/-34.3	0,12,4288	yes	missense,missense,missense,missense	COL11A2	NM_001163771.1,NM_080679.2,NM_080680.2,NM_080681.2	103,103,103,103	0,13,6490	GG,GC,CC		0.1395,0.0227,0.1	probably-damaging,probably-damaging,probably-damaging,probably-damaging	118/291,118/1630,118/1737,118/1651	33156845	13,12993	2203	4300	6503	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33156845C>G	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.353G>C	6.37:g.33156845C>G	ENSP00000363840:p.Arg118Pro					COL11A2_ENST00000395194.1_Missense_Mutation_p.R118P|COL11A2_ENST00000395197.1_Missense_Mutation_p.R118P|COL11A2_ENST00000357486.1_Missense_Mutation_p.R118P|COL11A2_ENST00000374712.1_Missense_Mutation_p.R118P|COL11A2_ENST00000374708.4_Missense_Mutation_p.R118P|COL11A2_ENST00000374713.1_Missense_Mutation_p.R118P|COL11A2_ENST00000361917.1_Missense_Mutation_p.R118P|COL11A2_ENST00000374714.1_Missense_Mutation_p.R118P	p.R118P	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN			3	580	-			118			TSP N-terminal.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.353G>C	CCDS43452.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	C	12.82	2.053850	0.36277	2.27E-4	0.001395	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000457788;ENST00000395194	T;T;T;T;T;T;T;T;T;T	0.02236	4.38;4.38;4.38;4.38;4.38;4.38;4.38;4.38;4.38;4.38	3.45	2.58	0.30949	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.079457	0.50627	D	0.000107	T	0.03263	0.0095	M	0.74647	2.275	0.41164	D	0.986117	D;D;D;D	0.71674	0.996;0.986;0.995;0.998	P;P;P;P	0.61592	0.86;0.708;0.708;0.891	T	0.50566	-0.8813	10	0.31617	T	0.26	.	5.5514	0.17093	0.0:0.7493:0.0:0.2507	rs41268014	118;118;118;118	Q7Z6C3;P13942-8;P13942-6;P13942	.;.;.;COBA2_HUMAN	P	118	ENSP00000363840:R118P;ENSP00000339915:R118P;ENSP00000350079:R118P;ENSP00000363846:R118P;ENSP00000363845:R118P;ENSP00000378623:R118P;ENSP00000363844:R118P;ENSP00000355123:R118P;ENSP00000405520:R118P;ENSP00000378620:R118P	ENSP00000339915:R118P	R	-	2	0	COL11A2	33264823	0.382000	0.25148	0.991000	0.47740	0.993000	0.82548	1.060000	0.30530	1.001000	0.39076	0.551000	0.68910	CGA		0.617	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			4	84	0	0	0	0.014758	0	4	84				
TTN	7273	broad.mit.edu	37	2	179640277	179640277	+	Missense_Mutation	SNP	G	G	A	rs547169244		TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:179640277G>A	ENST00000591111.1	-	28	6538	c.6314C>T	c.(6313-6315)cCa>cTa	p.P2105L	TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P2105L|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P2059L|TTN_ENST00000360870.5_Missense_Mutation_p.P2105L|TTN_ENST00000342992.6_Missense_Mutation_p.P2105L|TTN_ENST00000359218.5_Missense_Mutation_p.P2059L|TTN_ENST00000460472.2_Missense_Mutation_p.P2059L			Q8WZ42	TITIN_HUMAN	titin	12794	Ig-like 10.				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)			TTCGGGGTCTGGTTTCCCCAC	0.478																																						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.(6313-6315)cCa>cTa		titin							77.0	82.0	80.0					2																	179640277		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179640277G>A	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.6314C>T	2.37:g.179640277G>A	ENSP00000465570:p.Pro2105Leu					TTN_ENST00000360870.5_Missense_Mutation_p.P2105L|TTN_ENST00000460472.2_Missense_Mutation_p.P2059L|TTN_ENST00000359218.5_Missense_Mutation_p.P2059L|TTN_ENST00000342175.6_Missense_Mutation_p.P2059L|TTN_ENST00000342992.6_Missense_Mutation_p.P2105L|TTN_ENST00000591111.1_Missense_Mutation_p.P2105L	p.P2105L	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)		28	6538	-			1868			Ig-like 10.		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.6314C>T		.	.	.	.	.	.	.	.	.	.	G	13.62	2.291850	0.40594	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85	5.33	5.33	0.75918	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.90800	0.7111	H	0.95574	3.69	0.58432	D	0.999995	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0	D	0.93377	0.6740	9	0.87932	D	0	.	19.0299	0.92952	0.0:0.0:1.0:0.0	.	2059;2059;2059;2105;2105	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	L	2105;2059;2059;2059;2059;2105	ENSP00000343764:P2105L;ENSP00000434586:P2059L;ENSP00000340554:P2059L;ENSP00000352154:P2059L;ENSP00000354117:P2105L	ENSP00000340554:P2059L	P	-	2	0	TTN	179348522	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.835000	0.99442	2.503000	0.84419	0.655000	0.94253	CCA		0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	96	0	0	0	0.014758	0	5	96				
LOC220729	220729	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs377377382		TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532																																						ENST00000418868.1																			0																																																			220729							g.chr3:197348646T>C																													3.37:g.197348646T>C								NR_003266.2						0	613	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.532	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			4	61	0	0	0	0.021553	0	4	61				
SLC26A8	116369	broad.mit.edu	37	6	35919038	35919038	+	Missense_Mutation	SNP	C	C	T	rs115071158		TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr6:35919038C>T	ENST00000490799.1	-	19	2727	c.2374G>A	c.(2374-2376)Gtg>Atg	p.V792M	SLC26A8_ENST00000355574.2_Missense_Mutation_p.V792M|SLC26A8_ENST00000394602.2_Missense_Mutation_p.V687M	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8									p.V792M(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GCAAACAGCACGGCGTCGTGA	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		18466	0.0		0.001	False		,,,				2504	0.0					ENST00000490799.1																			1	Substitution - Missense(1)	p.V792M(1)	lung(1)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						c.(2374-2376)Gtg>Atg		solute carrier family 26 (anion exchanger), member 8		C	MET/VAL,MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	117.0	102.0	107.0		2374,2374,2059	4.9	0.9	6	dbSNP_132	107	0,8600		0,0,4300	no	missense,missense,missense	SLC26A8	NM_001193476.1,NM_052961.3,NM_138718.2	21,21,21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign	792/971,792/971,687/866	35919038	1,13005	2203	4300	6503	SO:0001583	missense	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35919038C>T	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.2374G>A	6.37:g.35919038C>T	ENSP00000417638:p.Val792Met					SLC26A8_ENST00000355574.2_Missense_Mutation_p.V792M|SLC26A8_ENST00000394602.2_Missense_Mutation_p.V687M	p.V792M	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN			19	2727	-			792			Interaction with RACGAP1.|STAS.			Missense_Mutation	SNP	ENST00000490799.1	37	c.2374G>A	CCDS4813.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.09	1.832364	0.32421	2.27E-4	0.0	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.98075	-4.33;-4.7;-4.33	5.75	4.88	0.63580	Sulphate transporter/antisigma-factor antagonist STAS (1);	0.243932	0.29218	N	0.012783	D	0.92420	0.7594	L	0.41961	1.31	0.30441	N	0.776239	P;P;P	0.43352	0.462;0.454;0.804	B;B;B	0.38378	0.058;0.086;0.272	D	0.89582	0.3821	10	0.52906	T	0.07	.	10.9472	0.47308	0.0:0.9135:0.0:0.0865	.	792;687;374	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	M	792;687;792	ENSP00000417638:V792M;ENSP00000378100:V687M;ENSP00000347778:V792M	ENSP00000347778:V792M	V	-	1	0	SLC26A8	36027016	0.946000	0.32159	0.924000	0.36721	0.378000	0.30076	1.860000	0.39428	1.428000	0.47296	-0.137000	0.14449	GTG		0.488	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			12	50	0	0	0	0.080935	0	12	50				
NCOR1	9611	broad.mit.edu	37	17	15971267	15971267	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr17:15971267C>T	ENST00000268712.3	-	32	4939	c.4682G>A	c.(4681-4683)cGg>cAg	p.R1561Q	NCOR1_ENST00000395857.3_Missense_Mutation_p.R145Q|NCOR1_ENST00000395851.1_Missense_Mutation_p.R1577Q	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1561	Interaction with C1D. {ECO:0000250}.|Interaction with ETO.			R -> W (in Ref. 1; AAC33550). {ECO:0000305}.	CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|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)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CAGGTGGCTCCGATAAACCTC	0.512																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(4681-4683)cGg>cAg		nuclear receptor corepressor 1							87.0	82.0	84.0					17																	15971267		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15971267C>T	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.4682G>A	17.37:g.15971267C>T	ENSP00000268712:p.Arg1561Gln					NCOR1_ENST00000395857.3_Missense_Mutation_p.R145Q|NCOR1_ENST00000395851.1_Missense_Mutation_p.R1577Q	p.R1561Q	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	32	4939	-			1561	R -> W (in Ref. 1; AAC33550).		Interaction with C1D (By similarity).|Interaction with ETO.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.4682G>A	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	C	37	6.138938	0.97315	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.53206	0.63;0.63;0.63	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.71719	0.3373	M	0.79475	2.455	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.993;0.99;0.992;0.996;0.998	T	0.73739	-0.3888	10	0.87932	D	0	-11.3394	19.1813	0.93625	0.0:1.0:0.0:0.0	.	372;1466;1561;1577;82	B4DZ48;E7EVK1;O75376;O75376-2;Q86YY1	.;.;NCOR1_HUMAN;.;.	Q	1561;1577;1466;145	ENSP00000268712:R1561Q;ENSP00000379192:R1577Q;ENSP00000379198:R145Q	ENSP00000268712:R1561Q	R	-	2	0	NCOR1	15911992	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.446000	0.60014	2.771000	0.95319	0.563000	0.77884	CGG		0.512	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		9	40	0	0	0	0.058154	0	9	40				
SMCP	4184	broad.mit.edu	37	1	152856943	152856943	+	Silent	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:152856943C>T	ENST00000368765.3	+	2	195	c.45C>T	c.(43-45)ggC>ggT	p.G15G		NM_030663.2	NP_109588.2	P49901	MCSP_HUMAN	sperm mitochondria-associated cysteine-rich protein	15	7 X 7 (OR 8) AA approximate repeats.				penetration of zona pellucida (GO:0007341)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGCAAAAGGCAATCAATGCT	0.458																																						ENST00000368765.3																			0				breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8						c.(43-45)ggC>ggT		sperm mitochondria-associated cysteine-rich protein							95.0	86.0	89.0					1																	152856943		2203	4300	6503	SO:0001819	synonymous_variant	4184				penetration of zona pellucida|sperm motility	mitochondrial membrane		g.chr1:152856943C>T	BC014593	CCDS1029.1	1q21.3	2009-03-19	2005-10-06	2005-10-06	ENSG00000163206	ENSG00000163206			6962	protein-coding gene	gene with protein product		601148	"""mitochondrial capsule selenoprotein"""	MCSP		8833144	Standard	NM_030663		Approved		uc001fat.3	P49901	OTTHUMG00000012452	ENST00000368765.3:c.45C>T	1.37:g.152856943C>T							p.G15G	NM_030663.2	NP_109588.2	P49901	MCSP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	195	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		15			7 X 7 (OR 8) AA approximate repeats.		Q96A42	Silent	SNP	ENST00000368765.3	37	c.45C>T	CCDS1029.1																																																																																				0.458	SMCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034665.1	NM_030663		16	48	0	0	0	0.146539	0	16	48				
ARHGAP30	257106	broad.mit.edu	37	1	161018149	161018149	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:161018149C>A	ENST00000368013.3	-	12	2982	c.2662G>T	c.(2662-2664)Gta>Tta	p.V888L	USF1_ENST00000435396.1_5'Flank|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.V711L|USF1_ENST00000368021.3_5'Flank|ARHGAP30_ENST00000368016.3_Intron	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	888	Glu-rich.				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)			TGTGGGGCTACCTCTTCCATC	0.587																																						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.(2662-2664)Gta>Tta		Rho GTPase activating protein 30							52.0	48.0	50.0					1																	161018149		2203	4300	6503	SO:0001583	missense	257106				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr1:161018149C>A	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.2662G>T	1.37:g.161018149C>A	ENSP00000356992:p.Val888Leu					ARHGAP30_ENST00000368016.3_Intron|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.V711L	p.V888L	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		12	2982	-	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		888			Glu-rich.		Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	ENST00000368013.3	37	c.2662G>T	CCDS30918.1	.	.	.	.	.	.	.	.	.	.	C	4.551	0.102371	0.08731	.	.	ENSG00000186517	ENST00000368013;ENST00000368015	T;T	0.32988	2.95;1.43	3.43	2.49	0.30216	.	0.771098	0.10996	N	0.611011	T	0.08179	0.0204	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.27571	-1.0070	10	0.52906	T	0.07	.	7.995	0.30263	0.0:0.8723:0.0:0.1276	.	888	Q7Z6I6	RHG30_HUMAN	L	888;711	ENSP00000356992:V888L;ENSP00000356994:V711L	ENSP00000356992:V888L	V	-	1	0	ARHGAP30	159284773	0.000000	0.05858	0.004000	0.12327	0.176000	0.22953	0.620000	0.24403	1.854000	0.53819	0.455000	0.32223	GTA		0.587	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		16	34	1	0	1.5739e-10	0.146539	1.77568e-10	16	34				
DNAJC10	54431	broad.mit.edu	37	2	183616441	183616441	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:183616441G>A	ENST00000264065.7	+	15	1778	c.1363G>A	c.(1363-1365)Gtt>Att	p.V455I		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	455	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.|Trxb 2.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GAATTCTCATGTTACCACGCT	0.353																																					Pancreas(56;860 1183 25669 35822 48585)	ENST00000264065.6																			0				breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32						c.(1363-1365)Gtt>Att		DnaJ (Hsp40) homolog, subfamily C, member 10							164.0	167.0	166.0					2																	183616441		2203	4300	6503	SO:0001583	missense	54431				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding	g.chr2:183616441G>A		CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"""Heat shock proteins / DNAJ (HSP40)"", ""Protein disulfide isomerases"""	24637	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 19"""	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.1363G>A	2.37:g.183616441G>A	ENSP00000264065:p.Val455Ile						p.V455I	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		15	1778	+			455			Thioredoxin 2.		Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Missense_Mutation	SNP	ENST00000264065.7	37	c.1363G>A	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977618	0.92982	.	.	ENSG00000077232	ENST00000264065;ENST00000392392	T	0.47528	0.84	6.03	6.03	0.97812	Thioredoxin-like fold (4);	0.000000	0.85682	D	0.000000	T	0.70500	0.3231	M	0.76838	2.35	0.80722	D	1	P;D	0.69078	0.947;0.997	P;D	0.65573	0.58;0.936	T	0.68606	-0.5364	10	0.46703	T	0.11	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	409;455	Q8IXB1-2;Q8IXB1	.;DJC10_HUMAN	I	455;409	ENSP00000264065:V455I	ENSP00000264065:V455I	V	+	1	0	DNAJC10	183324686	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.020000	0.93667	2.854000	0.98071	0.655000	0.94253	GTT		0.353	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981		20	276	0	0	0	0.049695	0	20	276				
ZIC1	7545	broad.mit.edu	37	3	147128517	147128517	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr3:147128517G>A	ENST00000282928.4	+	1	1347	c.618G>A	c.(616-618)gcG>gcA	p.A206A		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	206					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						ACATGGCCGCGCATCACGGCG	0.652																																						ENST00000282928.4																			0				central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						c.(616-618)gcG>gcA		Zic family member 1							42.0	45.0	44.0					3																	147128517		2203	4300	6503	SO:0001819	synonymous_variant	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128517G>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.618G>A	3.37:g.147128517G>A							p.A206A	NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN			1	1347	+			206					Q2M3N1	Silent	SNP	ENST00000282928.4	37	c.618G>A	CCDS3136.1																																																																																				0.652	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		14	48	0	0	0	0.119110	0	14	48				
SLC22A12	116085	broad.mit.edu	37	11	64361159	64361159	+	Silent	SNP	T	T	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr11:64361159T>C	ENST00000377574.1	+	4	1461	c.714T>C	c.(712-714)tcT>tcC	p.S238S	SLC22A12_ENST00000336464.7_Silent_p.S204S|SLC22A12_ENST00000473690.1_Silent_p.S17S|SLC22A12_ENST00000377572.1_Intron|SLC22A12_ENST00000377567.2_Intron	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	238					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	CCTTGAACTCTCTGGGCTTCA	0.642																																						ENST00000377574.1																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(712-714)tcT>tcC		solute carrier family 22 (organic anion/urate transporter), member 12							130.0	119.0	123.0					11																	64361159		2201	4297	6498	SO:0001819	synonymous_variant	116085				cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity	g.chr11:64361159T>C	AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"""Solute carriers"""	17989	protein-coding gene	gene with protein product		607096	"""solute carrier family 22 (organic anion/cation transporter), member 12"""			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.714T>C	11.37:g.64361159T>C						SLC22A12_ENST00000377567.2_Intron|SLC22A12_ENST00000336464.7_Silent_p.S204S|SLC22A12_ENST00000473690.1_Silent_p.S17S|SLC22A12_ENST00000377572.1_Intron	p.S238S	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN			4	1461	+			238					B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Silent	SNP	ENST00000377574.1	37	c.714T>C	CCDS8075.1																																																																																				0.642	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104966.2	NM_144585		10	29	0	0	0	0.058154	0	10	29				
METTL3	56339	broad.mit.edu	37	14	21971333	21971333	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr14:21971333C>T	ENST00000298717.4	-	3	857	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	METTL3_ENST00000538267.1_3'UTR	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	236					circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		CTCTGTTGTTCCTTAGTGGAC	0.448																																						ENST00000298717.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20						c.(706-708)Gaa>Aaa		methyltransferase like 3							188.0	185.0	186.0					14																	21971333		2203	4300	6503	SO:0001583	missense	56339				gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding	g.chr14:21971333C>T	AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"""N6-adenosine-methyltransferase 70 kDa subunit"""	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.706G>A	14.37:g.21971333C>T	ENSP00000298717:p.Glu236Lys					METTL3_ENST00000538267.1_3'UTR	p.E236K	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)	3	857	-	all_cancers(95;0.000628)		236					O14736|Q86V05|Q9HB32	Missense_Mutation	SNP	ENST00000298717.4	37	c.706G>A	CCDS32044.1	.	.	.	.	.	.	.	.	.	.	C	32	5.152971	0.94645	.	.	ENSG00000165819	ENST00000298717	T	0.28666	1.6	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.56702	0.2003	M	0.69823	2.125	0.80722	D	1	D;D;P	0.67145	0.996;0.996;0.952	D;D;P	0.77557	0.986;0.99;0.625	T	0.58329	-0.7655	10	0.87932	D	0	-21.8541	18.0313	0.89285	0.0:1.0:0.0:0.0	.	236;236;236	B4E2F6;B4DTN4;Q86U44	.;.;MTA70_HUMAN	K	236	ENSP00000298717:E236K	ENSP00000298717:E236K	E	-	1	0	METTL3	21041173	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.739000	0.74827	2.797000	0.96272	0.563000	0.77884	GAA		0.448	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401227.1	NM_019852		38	114	0	0	0	0.117977	0	38	114				
FMNL2	114793	broad.mit.edu	37	2	153471451	153471451	+	Silent	SNP	A	A	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:153471451A>G	ENST00000288670.9	+	12	1516	c.1149A>G	c.(1147-1149)gaA>gaG	p.E383E		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	383	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CTCTACTGGAAGATGCTGAAA	0.398																																						ENST00000288670.9																			0				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						c.(1147-1149)gaA>gaG		formin-like 2							103.0	104.0	104.0					2																	153471451		1975	4176	6151	SO:0001819	synonymous_variant	114793				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding	g.chr2:153471451A>G	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.1149A>G	2.37:g.153471451A>G							p.E383E	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN			12	1516	+			383			GBD/FH3.		B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Silent	SNP	ENST00000288670.9	37	c.1149A>G	CCDS46429.1																																																																																				0.398	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333582.2	NM_052905		13	40	0	0	0	0.093190	0	13	40				
OR4N2	390429	broad.mit.edu	37	14	20295720	20295720	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr14:20295720T>C	ENST00000315947.1	+	1	113	c.113T>C	c.(112-114)aTc>aCc	p.I38T	OR4N2_ENST00000568211.1_Missense_Mutation_p.I38T	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	38						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TACTTCATCATCCTCCCTGGA	0.438																																						ENST00000315947.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52						c.(112-114)aTc>aCc		olfactory receptor, family 4, subfamily N, member 2							190.0	217.0	208.0					14																	20295720		2203	4300	6503	SO:0001583	missense	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20295720T>C		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.113T>C	14.37:g.20295720T>C	ENSP00000319601:p.Ile38Thr					OR4N2_ENST00000568211.1_Missense_Mutation_p.I38T	p.I38T	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	113	+	all_cancers(95;0.00108)		38					Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	c.113T>C	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	0.012	-1.667650	0.00765	.	.	ENSG00000176294	ENST00000557677;ENST00000315947	T;T	0.00603	6.28;6.28	4.3	4.3	0.51218	.	0.133715	0.34411	N	0.003996	T	0.00178	0.0005	N	0.00175	-1.925	0.28934	N	0.891379	B	0.23058	0.079	B	0.22880	0.042	T	0.34477	-0.9827	10	0.02654	T	1	-20.2351	6.5645	0.22505	0.0:0.1081:0.0:0.8919	.	38	Q8NGD1	OR4N2_HUMAN	T	38	ENSP00000452022:I38T;ENSP00000319601:I38T	ENSP00000319601:I38T	I	+	2	0	OR4N2	19365560	0.000000	0.05858	1.000000	0.80357	0.548000	0.35241	0.219000	0.17641	1.922000	0.55676	0.482000	0.46254	ATC		0.438	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			20	277	0	0	0	0.055883	0	20	277				
ROBO3	64221	broad.mit.edu	37	11	124744033	124744033	+	Missense_Mutation	SNP	G	G	A	rs74787566	byFrequency	TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr11:124744033G>A	ENST00000397801.1	+	12	2044	c.1852G>A	c.(1852-1854)Ggt>Agt	p.G618S	ROBO3_ENST00000538940.1_Missense_Mutation_p.G596S	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	618	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CACAGTCAGCGGTCTGCAGCC	0.587													G|||	24	0.00479233	0.0	0.0014	5008	,	,		18513	0.0208		0.0	False		,,,				2504	0.002					ENST00000397801.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(1852-1854)Ggt>Agt		roundabout, axon guidance receptor, homolog 3 (Drosophila)		G	SER/GLY	4,4272		0,4,2134	138.0	141.0	140.0		1852	5.3	0.9	11	dbSNP_133	140	0,8512		0,0,4256	yes	missense	ROBO3	NM_022370.3	56	0,4,6390	AA,AG,GG		0.0,0.0935,0.0313	probably-damaging	618/1387	124744033	4,12784	2138	4256	6394	SO:0001583	missense	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124744033G>A	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.1852G>A	11.37:g.124744033G>A	ENSP00000380903:p.Gly618Ser					ROBO3_ENST00000538940.1_Missense_Mutation_p.G596S	p.G618S	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	12	2044	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	618			Fibronectin type-III 1.			Missense_Mutation	SNP	ENST00000397801.1	37	c.1852G>A	CCDS44755.1	17	0.007783882783882784	0	0.0	0	0.0	17	0.02972027972027972	0	0.0	G	35	5.451526	0.96205	9.35E-4	0.0	ENSG00000154134	ENST00000397801;ENST00000538940	D;D	0.84873	-1.91;-1.91	5.33	5.33	0.75918	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.38959	N	0.001503	D	0.84750	0.5541	M	0.85099	2.735	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	D	0.88063	0.2795	10	0.59425	D	0.04	.	17.9431	0.89031	0.0:0.0:1.0:0.0	.	618	Q96MS0	ROBO3_HUMAN	S	618;596	ENSP00000380903:G618S;ENSP00000441797:G596S	ENSP00000380903:G618S	G	+	1	0	ROBO3	124249243	1.000000	0.71417	0.866000	0.34008	0.991000	0.79684	7.700000	0.84556	2.775000	0.95449	0.655000	0.94253	GGT		0.587	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		6	73	0	0	0	0.029380	0	6	73				
ITPK1	3705	broad.mit.edu	37	14	93412779	93412779	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr14:93412779G>A	ENST00000267615.6	-	10	971	c.798C>T	c.(796-798)tcC>tcT	p.S266S	ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000354313.3_Silent_p.S266S|ITPK1_ENST00000556603.2_Silent_p.S266S|ITPK1_ENST00000555495.1_Silent_p.S147S			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	266	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				blood coagulation (GO:0007596)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|inositol trisphosphate metabolic process (GO:0032957)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|inositol tetrakisphosphate 1-kinase activity (GO:0047325)|inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity (GO:0052825)|inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity (GO:0052831)|inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity (GO:0052830)|inositol-1,3,4-trisphosphate 5-kinase activity (GO:0052726)|inositol-1,3,4-trisphosphate 6-kinase activity (GO:0052725)|inositol-3,4,6-trisphosphate 1-kinase activity (GO:0052835)|isomerase activity (GO:0016853)|magnesium ion binding (GO:0000287)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		GCAGGGCCCGGGAGAGCTCCC	0.617																																						ENST00000267615.6																			0				endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11						c.(796-798)tcC>tcT		inositol-tetrakisphosphate 1-kinase							89.0	82.0	84.0					14																	93412779		2203	4300	6503	SO:0001819	synonymous_variant	3705				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding	g.chr14:93412779G>A	U51336	CCDS9907.1, CCDS45157.1	14q32.12	2012-08-16	2011-04-28		ENSG00000100605	ENSG00000100605	2.7.1.134		6177	protein-coding gene	gene with protein product		601838	"""inositol 1,3,4-triphosphate 5/6 kinase"""			8662638, 11042108	Standard	NM_014216		Approved		uc001ybh.3	Q13572	OTTHUMG00000171226	ENST00000267615.6:c.798C>T	14.37:g.93412779G>A						ITPK1_ENST00000556603.2_Silent_p.S266S|ITPK1_ENST00000555495.1_Silent_p.S147S|ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000354313.3_Silent_p.S266S	p.S266S			Q13572	ITPK1_HUMAN		Epithelial(152;0.124)|all cancers(159;0.169)	10	971	-		all_cancers(154;0.077)|all_epithelial(191;0.247)	266			ATP-grasp.		Q9BTL6|Q9H2E7	Silent	SNP	ENST00000267615.6	37	c.798C>T	CCDS9907.1																																																																																				0.617	ITPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412421.2	NM_014216		12	43	0	0	0	0.080935	0	12	43				
RANBP17	64901	broad.mit.edu	37	5	170668104	170668104	+	Silent	SNP	T	T	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr5:170668104T>G	ENST00000523189.1	+	23	2759	c.2595T>G	c.(2593-2595)gcT>gcG	p.A865A	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	865					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TACTCCAGGCTTTTGTCAAAA	0.438			T	TRD@	ALL																																	ENST00000523189.1				Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50						c.(2593-2595)gcT>gcG		RAN binding protein 17							183.0	176.0	178.0					5																	170668104		2203	4300	6503	SO:0001819	synonymous_variant	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170668104T>G	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.2595T>G	5.37:g.170668104T>G						RANBP17_ENST00000521759.1_3'UTR	p.A865A	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		23	2759	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	865					Q8IU74	Silent	SNP	ENST00000523189.1	37	c.2595T>G	CCDS34287.1																																																																																				0.438	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		32	96	0	0	0	0.144211	0	32	96				
SI	6476	broad.mit.edu	37	3	164741544	164741544	+	Silent	SNP	T	T	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr3:164741544T>A	ENST00000264382.3	-	26	2975	c.2913A>T	c.(2911-2913)gcA>gcT	p.A971A		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	971	Isomaltase.|P-type 2. {ECO:0000255|PROSITE- ProRule:PRU00779}.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AACACTCAGGTGCTTTGGATA	0.363										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(2911-2913)gcA>gcT		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						86.0	83.0	84.0					3																	164741544		2203	4300	6503	SO:0001819	synonymous_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164741544T>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2913A>T	3.37:g.164741544T>A		HNSCC(35;0.089)					p.A971A	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			26	2975	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	971			Isomaltase.|P-type 2.		A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	ENST00000264382.3	37	c.2913A>T	CCDS3196.1																																																																																				0.363	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		18	90	0	0	0	0.175082	0	18	90				
RS1	6247	broad.mit.edu	37	X	18660205	18660205	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chrX:18660205G>A	ENST00000379984.3	-	6	634	c.594C>T	c.(592-594)ttC>ttT	p.F198F	RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379989.3_Intron|CDKL5_ENST00000379996.3_Intron	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	198	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adaptation of rhodopsin mediated signaling (GO:0016062)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|retina layer formation (GO:0010842)|visual perception (GO:0007601)	extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					TGAGGCGGATGAAGCGGGAGA	0.617																																						ENST00000379984.3																			0				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15						c.(592-594)ttC>ttT		retinoschisin 1							73.0	66.0	68.0					X																	18660205		2203	4300	6503	SO:0001819	synonymous_variant	6247				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space		g.chrX:18660205G>A	AF014459	CCDS14187.1	Xp22.2-p22.1	2014-09-17	2008-07-29		ENSG00000102104	ENSG00000102104			10457	protein-coding gene	gene with protein product		300839	"""retinoschisis (X-linked, juvenile) 1"""	RS		9326935, 17804407	Standard	NM_000330		Approved	XLRS1	uc004cyo.3	O15537	OTTHUMG00000021216	ENST00000379984.3:c.594C>T	X.37:g.18660205G>A						RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379996.3_Intron|CDKL5_ENST00000379989.3_Intron	p.F198F	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN			6	634	-	Hepatocellular(33;0.183)		198			F5/8 type C.		Q0QD39	Silent	SNP	ENST00000379984.3	37	c.594C>T	CCDS14187.1																																																																																				0.617	RS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055949.1			11	48	0	0	0	0.093190	0	11	48				
C2orf42	54980	broad.mit.edu	37	2	70408542	70408542	+	Silent	SNP	T	T	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:70408542T>C	ENST00000264434.2	-	3	955	c.576A>G	c.(574-576)aaA>aaG	p.K192K	C2orf42_ENST00000470096.1_5'Flank|C2orf42_ENST00000420306.1_Silent_p.K192K	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	192										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						TTGCCTTGCATTTCACCACCA	0.512																																						ENST00000264434.2																			0				endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						c.(574-576)aaA>aaG		chromosome 2 open reading frame 42							115.0	111.0	112.0					2																	70408542		2203	4300	6503	SO:0001819	synonymous_variant	54980							g.chr2:70408542T>C	AK000565	CCDS1899.1	2p14	2011-03-08			ENSG00000115998	ENSG00000115998			26056	protein-coding gene	gene with protein product						12477932	Standard	XM_005264389		Approved	FLJ20558	uc002sgh.3	Q9NWW7	OTTHUMG00000129642	ENST00000264434.2:c.576A>G	2.37:g.70408542T>C						C2orf42_ENST00000420306.1_Silent_p.K192K	p.K192K	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN			3	955	-			192					D6W5G3|Q9H629	Silent	SNP	ENST00000264434.2	37	c.576A>G	CCDS1899.1																																																																																				0.512	C2orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251840.1	NM_017880		14	102	0	0	0	0.132662	0	14	102				
TNRC6A	27327	broad.mit.edu	37	16	24826581	24826581	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr16:24826581C>T	ENST00000395799.3	+	19	4915	c.4786C>T	c.(4786-4788)Cgt>Tgt	p.R1596C	TNRC6A_ENST00000315183.7_Missense_Mutation_p.R1547C|CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000432286.2_Missense_Mutation_p.R74C	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1596					cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TGGCTGGCCACGTGCCAAATC	0.448																																						ENST00000395799.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(4786-4788)Cgt>Tgt		trinucleotide repeat containing 6A							86.0	81.0	83.0					16																	24826581		2197	4300	6497	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24826581C>T	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.4786C>T	16.37:g.24826581C>T	ENSP00000379144:p.Arg1596Cys					TNRC6A_ENST00000315183.7_Missense_Mutation_p.R1547C|TNRC6A_ENST00000432286.2_Missense_Mutation_p.R74C|CTD-2515A14.1_ENST00000568895.1_RNA	p.R1596C	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	19	4915	+			1596					C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.4786C>T	CCDS10624.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.4|24.4	4.532363|4.532363	0.85812|0.85812	.|.	.|.	ENSG00000090905|ENSG00000090905	ENST00000315183;ENST00000395799;ENST00000432286|ENST00000450465	T;T|.	0.14640|.	2.52;2.49|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72771|0.72771	0.3502|0.3502	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.999;0.978;0.993;1.0|.	P;P;P;D|.	0.64506|.	0.855;0.676;0.707;0.926|.	T|T	0.70659|0.70659	-0.4811|-0.4811	10|5	0.56958|.	D|.	0.05|.	-8.203|-8.203	15.0829|15.0829	0.72127|0.72127	0.1417:0.8583:0.0:0.0|0.1417:0.8583:0.0:0.0	.|.	263;735;1547;1596|.	B3KSX2;C9JA83;Q8NDV7-6;Q8NDV7|.	.;.;.;TNR6A_HUMAN|.	C|M	1547;1596;74|486	ENSP00000326900:R1547C;ENSP00000379144:R1596C|.	ENSP00000326900:R1547C|.	R|T	+|+	1|2	0|0	TNRC6A|TNRC6A	24734082|24734082	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.867000|4.867000	0.63013|0.63013	2.809000|2.809000	0.96659|0.96659	0.655000|0.655000	0.94253|0.94253	CGT|ACG		0.448	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		7	31	0	0	0	0.038147	0	7	31				
POLE	5426	broad.mit.edu	37	12	133225538	133225538	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr12:133225538C>A	ENST00000320574.5	-	32	4169	c.4126G>T	c.(4126-4128)Gag>Tag	p.E1376*	POLE_ENST00000535270.1_Nonsense_Mutation_p.E1349*	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1376					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GCACCCTCCTCCGCTTTAGCG	0.612								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(4126-4128)Gag>Tag	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							139.0	95.0	110.0					12																	133225538		2203	4300	6503	SO:0001587	stop_gained	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133225538C>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4126G>T	12.37:g.133225538C>A	ENSP00000322570:p.Glu1376*					POLE_ENST00000535270.1_Nonsense_Mutation_p.E1349*	p.E1376*	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	32	4169	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1376					Q13533|Q86VH9	Nonsense_Mutation	SNP	ENST00000320574.5	37	c.4126G>T	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	40	8.066639	0.98638	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	19.5576	0.95358	0.0:1.0:0.0:0.0	.	.	.	.	X	1376;1387;1349;1156	.	ENSP00000322570:E1376X	E	-	1	0	POLE	131735611	1.000000	0.71417	0.933000	0.37362	0.051000	0.14879	5.975000	0.70475	2.627000	0.88993	0.505000	0.49811	GAG		0.612	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		9	49	1	0	0.0477658	0.047766	0.0485941	9	49				
LRRC8A	56262	broad.mit.edu	37	9	131670584	131670584	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr9:131670584C>G	ENST00000259324.5	+	3	1664	c.1141C>G	c.(1141-1143)Caa>Gaa	p.Q381E	LRRC8A_ENST00000372599.3_Missense_Mutation_p.Q381E|LRRC8A_ENST00000372600.4_Missense_Mutation_p.Q381E	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	381					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CCTCATTGACCAATACGACCC	0.562																																						ENST00000259324.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						c.(1141-1143)Caa>Gaa		leucine rich repeat containing 8 family, member A							135.0	115.0	122.0					9																	131670584		2203	4300	6503	SO:0001583	missense	56262				pre-B cell differentiation	integral to membrane		g.chr9:131670584C>G	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.1141C>G	9.37:g.131670584C>G	ENSP00000259324:p.Gln381Glu					LRRC8A_ENST00000372600.4_Missense_Mutation_p.Q381E|LRRC8A_ENST00000372599.3_Missense_Mutation_p.Q381E	p.Q381E	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN			3	1664	+			381					Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	ENST00000259324.5	37	c.1141C>G	CCDS35155.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.120961	0.56613	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.20598	2.06;2.06;2.06	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.49762	0.1576	M	0.78801	2.425	0.80722	D	1	D	0.64830	0.994	D	0.72338	0.977	T	0.50021	-0.8876	10	0.59425	D	0.04	.	18.4034	0.90525	0.0:1.0:0.0:0.0	.	381	Q8IWT6	LRC8A_HUMAN	E	381	ENSP00000361682:Q381E;ENSP00000361680:Q381E;ENSP00000259324:Q381E	ENSP00000259324:Q381E	Q	+	1	0	LRRC8A	130710405	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	7.818000	0.86416	2.595000	0.87683	0.561000	0.74099	CAA		0.562	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594		6	65	0	0	0	0.029380	0	6	65				
ZNF716	441234	broad.mit.edu	37	7	57528634	57528634	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr7:57528634C>T	ENST00000420713.1	+	4	579	c.467C>T	c.(466-468)aCa>aTa	p.T156I		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	156					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(20)|ovary(2)	24						CAAAACAAAACATTTCAGACT	0.323																																						ENST00000420713.1																			0				breast(1)|kidney(1)|lung(20)|ovary(2)	24						c.(466-468)aCa>aTa		zinc finger protein 716							160.0	148.0	152.0					7																	57528634		692	1591	2283	SO:0001583	missense	441234							g.chr7:57528634C>T	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.467C>T	7.37:g.57528634C>T	ENSP00000394248:p.Thr156Ile						p.T156I	NM_001159279.1	NP_001152751.1					4	579	+									Missense_Mutation	SNP	ENST00000420713.1	37	c.467C>T	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.250112	0.00022	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.05258	3.47	0.195	-0.39	0.12450	.	.	.	.	.	T	0.01661	0.0053	N	0.01209	-0.955	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39742	-0.9599	9	0.02654	T	1	.	5.3779	0.16176	0.0:0.2898:0.0:0.7102	.	144	A6NP11	ZN716_HUMAN	I	156;144	ENSP00000394248:T156I	ENSP00000387687:T144I	T	+	2	0	ZNF716	57532576	0.135000	0.22499	0.077000	0.20336	0.075000	0.17131	0.746000	0.26275	-2.512000	0.00503	-2.534000	0.00181	ACA		0.323	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		6	10	0	0	0	0.029380	0	6	10				
ZNF638	27332	broad.mit.edu	37	2	71653593	71653596	+	Frame_Shift_Del	DEL	CCAT	CCAT	-			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:71653593_71653596delCCAT	ENST00000409544.1	+	24	5224_5227	c.4594_4597delCCAT	c.(4594-4599)ccattafs	p.PL1532fs	ZNF638_ENST00000355812.3_Frame_Shift_Del_p.SH1123fs|ZNF638_ENST00000264447.4_Frame_Shift_Del_p.PL1532fs|ZNF638_ENST00000409407.1_Frame_Shift_Del_p.PL472fs	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1532					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CCAACAGGAGCCATTATTTCCATT	0.353																																						ENST00000409544.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						c.(4594-4599)tafs		zinc finger protein 638																																				SO:0001589	frameshift_variant	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71653593_71653596delCCAT	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.4594_4597delCCAT	2.37:g.71653593_71653596delCCAT	ENSP00000386433:p.Pro1532fs					ZNF638_ENST00000355812.3_Frame_Shift_Del_p.SH1123fs|ZNF638_ENST00000264447.4_Frame_Shift_Del_p.PL1532fs|ZNF638_ENST00000409407.1_Frame_Shift_Del_p.PL472fs	p.PL1532fs	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN			24	5224_5227	+			1532					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Frame_Shift_Del	DEL	ENST00000409544.1	37	c.4594_4597delCCAT	CCDS1917.1																																																																																				0.353	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		7	52						7	52	---	---	---	---
NICN1	84276	broad.mit.edu	37	3	49462293	49462293	+	Frame_Shift_Del	DEL	A	A	-	rs189963854		TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr3:49462293delA	ENST00000273598.3	-	6	701	c.615delT	c.(613-615)tatfs	p.Y205fs	AMT_ENST00000458307.2_5'Flank|NICN1-AS1_ENST00000424915.1_RNA|AMT_ENST00000273588.3_5'Flank|AMT_ENST00000395338.2_5'Flank|AMT_ENST00000538581.1_5'Flank|AMT_ENST00000476226.1_5'Flank|NICN1_ENST00000436744.2_Frame_Shift_Del_p.Y167fs|AMT_ENST00000546031.1_5'Flank|NICN1_ENST00000422593.1_5'Flank	NM_032316.3	NP_115692.1	Q9BSH3	NICN1_HUMAN	nicolin 1	205						microtubule (GO:0005874)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGTTCAGGTCATAACAGCCAT	0.507																																						ENST00000273598.3																			0				kidney(1)|large_intestine(3)|lung(1)	5						c.(613-615)tafs		nicolin 1							131.0	108.0	116.0					3																	49462293		2203	4300	6503	SO:0001589	frameshift_variant	84276					microtubule|nucleus		g.chr3:49462293delA	AJ299740	CCDS2798.1	3p21.31	2008-07-18			ENSG00000145029	ENSG00000145029			18317	protein-coding gene	gene with protein product		611516				12392556	Standard	NM_032316		Approved	MGC12936	uc003cwz.1	Q9BSH3	OTTHUMG00000156848	ENST00000273598.3:c.615delT	3.37:g.49462293delA	ENSP00000273598:p.Tyr205fs					NICN1_ENST00000436744.2_Frame_Shift_Del_p.Y167fs	p.Y205fs	NM_032316.3	NP_115692.1	Q9BSH3	NICN1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	6	701	-			205					Q8IZQ2	Frame_Shift_Del	DEL	ENST00000273598.3	37	c.615delT	CCDS2798.1																																																																																				0.507	NICN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346224.3	NM_032316		17	15						17	15	---	---	---	---
KIAA0226	9711	broad.mit.edu	37	3	197423824	197423845	+	Splice_Site	DEL	CCATATTCCATGTACAGAGAGC	CCATATTCCATGTACAGAGAGC	-	rs369267822		TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr3:197423824_197423845delCCATATTCCATGTACAGAGAGC	ENST00000296343.5	-	8	1336_1357	c.1337_1358delGCTCTCTGTACATGGAATATGG	c.(1336-1359)agctctctgtacatggaatatgga>aa	p.SSLYMEYG446fs	KIAA0226_ENST00000389665.5_Splice_Site_p.SSLYMEYG446fs|KIAA0226_ENST00000273582.5_Splice_Site_p.SSLYMEYG401fs	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	446	Ser-rich.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CTAGTACTCACCATATTCCATGTACAGAGAGCTGGGTGTGCT	0.486																																					Esophageal Squamous(3;167 355 3763 15924)	ENST00000273582.5																			0				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.e9+1		KIAA0226																																				SO:0001630	splice_region_variant	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197423824_197423845delCCATATTCCATGTACAGAGAGC	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.1357+1GCTCTCTGTACATGGAATATGG>-	3.37:g.197423824_197423845delCCATATTCCATGTACAGAGAGC						KIAA0226_ENST00000296343.5_Splice_Site_p.446_splice|KIAA0226_ENST00000389665.5_Splice_Site_p.446_splice	p.401_splice	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	9	1747_1768	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		446			Ser-rich.		Q96CK5	Splice_Site	DEL	ENST00000296343.5	37	c.1222_splice	CCDS43195.1																																																																																				0.486	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901	Frame_Shift_Del	7	27						7	27	---	---	---	---
FAM86EP	348926	broad.mit.edu	37	4	3951121	3951122	+	RNA	INS	-	-	TGTC	rs35568143|rs71636744|rs370806504	byFrequency	TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr4:3951121_3951122insTGTC	ENST00000313946.8	-	0	155				AC226119.5_ENST00000281228.8_RNA					family with sequence similarity 86, member E, pseudogene																		cgttttcACTTTGTGCAGGAAG	0.515														4218	0.842252	0.9834	0.8357	5008	,	,		15370	0.8373		0.7694	False		,,,				2504	0.7362					ENST00000281228.8																			0																																																			0							g.chr4:3951121_3951122insTGTC			4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3951121_3951122insTGTC						FAM86EP_ENST00000313946.8_RNA								0	344	-									RNA	INS	ENST00000313946.8	37																																																																																						0.515	FAM86EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357822.1			3	3						3	3	---	---	---	---
KRT1	3848	broad.mit.edu	37	12	53069236	53069256	+	In_Frame_Del	DEL	TAGCTGCTACCTCCGGAGCCA	TAGCTGCTACCTCCGGAGCCA	-	rs371843007|rs77846840|rs540699806|rs267607656	byFrequency	TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA	ENST00000252244.3	-	9	1714_1734	c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	c.(1654-1677)tatggctccggaggtagcagctac>tac	p.552_559YGSGGSSY>Y		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	552	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)	p.S557_G563delSSYGSGG(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						tccggagccgtagctgctacctccggagccatagctgccac	0.688																																						ENST00000252244.3																			3	Deletion - In frame(3)	p.S557_G563delSSYGSGG(3)	prostate(2)|central_nervous_system(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						c.(1654-1677)tac>ta		keratin 1				1239,2109		396,447,831				http://www.ncbi.nlm.nih.gov/sites/varvu?gene		-4.4	0.0		dbSNP_129	4	2732,4060		826,1080,1490	no	coding	KRT1	NM_006121.3		1222,1527,2321	A1A1,A1R,RR		40.2238,37.0072,39.1617				3971,6169				SO:0001651	inframe_deletion	3848				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	12.37:g.53069236_53069256delTAGCTGCTACCTCCGGAGCCA	ENSP00000252244:p.Tyr552_Ser558del						p.YGSGGSSY552del	NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN			9	1714_1734	-			552			Gly/Ser-rich.|Tail.		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	In_Frame_Del	DEL	ENST00000252244.3	37	c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	CCDS8836.1																																																																																				0.688	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121		4	8						4	8	---	---	---	---
OR4K17	390436	broad.mit.edu	37	14	20586188	20586188	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr14:20586188delT	ENST00000315543.4	+	1	623	c.623delT	c.(622-624)attfs	p.I208fs		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GTAGACAGCATTTTTTGTGAC	0.448																																						ENST00000315543.4																			0				kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21						c.(622-624)atfs		olfactory receptor, family 4, subfamily K, member 17							265.0	234.0	244.0					14																	20586188		2203	4300	6503	SO:0001589	frameshift_variant	390436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20586188delT		CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"""GPCR / Class A : Olfactory receptors"""	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.623delT	14.37:g.20586188delT	ENSP00000319197:p.Ile208fs						p.I208fs	NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	623	+	all_cancers(95;0.00108)		180					Q6IF12	Frame_Shift_Del	DEL	ENST00000315543.4	37	c.623delT	CCDS32030.1																																																																																				0.448	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1			17	150						17	150	---	---	---	---
CASC5	57082	broad.mit.edu	37	15	40915007	40915010	+	Frame_Shift_Del	DEL	GGAA	GGAA	-			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr15:40915007_40915010delGGAA	ENST00000346991.5	+	11	3013_3016	c.2623_2626delGGAA	c.(2623-2628)ggaaggfs	p.GR875fs	CASC5_ENST00000399668.2_Frame_Shift_Del_p.GR849fs|CASC5_ENST00000527044.1_3'UTR			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	875	2 X 104 AA approximate repeats.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CAAAATTTGGGGAAGGAAAAGTGT	0.319																																						ENST00000346991.5																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(2623-2628)ggfs		cancer susceptibility candidate 5																																				SO:0001589	frameshift_variant	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40915007_40915010delGGAA	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.2623_2626delGGAA	15.37:g.40915011_40915014delGGAA	ENSP00000335463:p.Gly875fs					CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Frame_Shift_Del_p.GR849fs	p.GR875fs			Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	11	3013_3016	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	875			2 X 104 AA approximate repeats.		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Frame_Shift_Del	DEL	ENST00000346991.5	37	c.2623_2626delGGAA	CCDS42023.1																																																																																				0.319	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		7	39						7	39	---	---	---	---
