#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
TRAF3IP1	26146	broad.mit.edu	37	2	239237417	239237417	+	Silent	SNP	T	T	C			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:239237417T>C	ENST00000373327.4	+	4	667	c.445T>C	c.(445-447)Ttg>Ctg	p.L149L	TRAF3IP1_ENST00000391994.2_Silent_p.L149L|TRAF3IP1_ENST00000391993.3_Silent_p.L149L	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	149	Abolishes microtubules-binding when missing.				cilium assembly (GO:0042384)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic heart tube development (GO:0035050)|intraciliary transport (GO:0042073)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube patterning (GO:0021532)|post-anal tail morphogenesis (GO:0036342)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		ATCTCAGGAATTGGATAATAA	0.458																																						ENST00000373327.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23						c.(445-447)Ttg>Ctg		TNF receptor-associated factor 3 interacting protein 1							58.0	61.0	60.0					2																	239237417		2203	4300	6503	SO:0001819	synonymous_variant	26146					cytoplasm|cytoskeleton	protein binding	g.chr2:239237417T>C	AF230877	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			ENSG00000204104	ENSG00000204104		"""Intraflagellar transport homologs"""	17861	protein-coding gene	gene with protein product	"""microtubule interacting protein that associates with TRAF3"""	607380				10791955, 12935900	Standard	NM_015650		Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	Q8TDR0	OTTHUMG00000152872	ENST00000373327.4:c.445T>C	2.37:g.239237417T>C						TRAF3IP1_ENST00000391993.3_Silent_p.L149L|TRAF3IP1_ENST00000391994.2_Silent_p.L149L	p.L149L	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)	4	667	+		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)	149			Abolishes microtubules-binding when missing.		Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Silent	SNP	ENST00000373327.4	37	c.445T>C	CCDS33415.1																																																																																				0.458	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328312.1	NM_015650		3	24	0	0	0	0.150653	0	3	24				
GOLIM4	27333	broad.mit.edu	37	3	167742370	167742370	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr3:167742370G>C	ENST00000470487.1	-	14	2493	c.1804C>G	c.(1804-1806)Cca>Gca	p.P602A	GOLIM4_ENST00000309027.4_Missense_Mutation_p.P574A	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	602	Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGCTGGTCTGGATTTCCTGCC	0.463																																						ENST00000470487.1																			0				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1804-1806)Cca>Gca		golgi integral membrane protein 4							252.0	204.0	220.0					3																	167742370		2203	4300	6503	SO:0001583	missense	27333				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		g.chr3:167742370G>C	U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.1804C>G	3.37:g.167742370G>C	ENSP00000417354:p.Pro602Ala					GOLIM4_ENST00000309027.4_Missense_Mutation_p.P574A	p.P602A	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN			14	2493	-			602			Glu-rich.			Missense_Mutation	SNP	ENST00000470487.1	37	c.1804C>G	CCDS3204.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286470	0.80803	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.78214	0.4248	M	0.76002	2.32	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.71224	-0.4656	9	0.10636	T	0.68	-11.9017	20.1141	0.97919	0.0:0.0:1.0:0.0	.	574;602	F8W785;O00461	.;GOLI4_HUMAN	A	602;574	.	ENSP00000309893:P574A	P	-	1	0	GOLIM4	169225064	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	8.133000	0.89605	2.766000	0.95052	0.650000	0.86243	CCA		0.463	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			6	28	0	0	0	0.217242	0	6	28				
PCDHB8	56128	broad.mit.edu	37	5	140558774	140558774	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr5:140558774C>T	ENST00000239444.2	+	1	1404	c.1159C>T	c.(1159-1161)Cag>Tag	p.Q387*	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	387	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGCTCCATTCAGGAGGATCT	0.458																																						ENST00000239444.2																			0				NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(1159-1161)Cag>Tag									126.0	169.0	154.0					5																	140558774		2203	4300	6503	SO:0001587	stop_gained	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140558774C>T	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1159C>T	5.37:g.140558774C>T	ENSP00000239444:p.Gln387*						p.Q387*	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1404	+			387			Cadherin 4.		B9EGV1	Nonsense_Mutation	SNP	ENST00000239444.2	37	c.1159C>T	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.441235	0.43326	.	.	ENSG00000120322	ENST00000239444	.	.	.	4.25	2.33	0.28932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	9.4056	0.38460	0.1275:0.4534:0.4191:0.0	.	.	.	.	X	387	.	ENSP00000239444:Q387X	Q	+	1	0	PCDHB8	140538958	0.000000	0.05858	0.010000	0.14722	0.007000	0.05969	-0.383000	0.07398	0.758000	0.33059	0.585000	0.79938	CAG		0.458	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		15	135	0	0	0	0.119110	0	15	135				
KIF5A	3798	broad.mit.edu	37	12	57968891	57968891	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr12:57968891G>A	ENST00000455537.2	+	16	2015	c.1741G>A	c.(1741-1743)Gag>Aag	p.E581K	KIF5A_ENST00000286452.5_Missense_Mutation_p.E492K	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	581					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						TGGGGCCATCGAGGAGGAGTT	0.527																																						ENST00000455537.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						c.(1741-1743)Gag>Aag		kinesin family member 5A							65.0	51.0	56.0					12																	57968891		2203	4300	6503	SO:0001583	missense	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57968891G>A	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.1741G>A	12.37:g.57968891G>A	ENSP00000408979:p.Glu581Lys					KIF5A_ENST00000286452.5_Missense_Mutation_p.E492K	p.E581K	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN			16	2015	+			581					A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	c.1741G>A	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	G	35	5.577111	0.96565	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	D;D	0.81908	-1.55;-1.55	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	D	0.90604	0.7054	M	0.79693	2.465	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.67231	0.95;0.932	D	0.91367	0.5116	10	0.54805	T	0.06	.	16.5549	0.84482	0.0:0.0:1.0:0.0	.	492;581	B7Z2M7;Q12840	.;KIF5A_HUMAN	K	581;492	ENSP00000408979:E581K;ENSP00000286452:E492K	ENSP00000286452:E492K	E	+	1	0	KIF5A	56255158	1.000000	0.71417	0.988000	0.46212	0.999000	0.98932	9.566000	0.98157	2.504000	0.84457	0.655000	0.94253	GAG		0.527	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		4	19	0	0	0	0.150653	0	4	19				
UNC45B	146862	broad.mit.edu	37	17	33507656	33507656	+	Silent	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr17:33507656G>A	ENST00000268876.5	+	18	2437	c.2340G>A	c.(2338-2340)gcG>gcA	p.A780A	UNC45B_ENST00000433649.1_Silent_p.A778A|UNC45B_ENST00000378449.1_Silent_p.A699A|UNC45B_ENST00000591048.1_Silent_p.A699A|UNC45B_ENST00000394570.2_Silent_p.A778A	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	780					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGCGGCAGGCGGCCACCGAGT	0.587																																						ENST00000268876.5																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59						c.(2338-2340)gcG>gcA		unc-45 homolog B (C. elegans)							54.0	51.0	52.0					17																	33507656		2203	4300	6503	SO:0001819	synonymous_variant	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33507656G>A	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.2340G>A	17.37:g.33507656G>A						UNC45B_ENST00000433649.1_Silent_p.A778A|UNC45B_ENST00000394570.2_Silent_p.A778A|UNC45B_ENST00000378449.1_Silent_p.A699A|UNC45B_ENST00000591048.1_Silent_p.A699A	p.A780A	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN			18	2437	+		Ovarian(249;0.17)	780					Q495Q8|Q495Q9	Silent	SNP	ENST00000268876.5	37	c.2340G>A	CCDS11292.1																																																																																				0.587	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		9	27	0	0	0	0.047766	0	9	27				
NTF4	4909	broad.mit.edu	37	19	49564712	49564712	+	Silent	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr19:49564712G>A	ENST00000593537.1	-	1	542	c.543C>T	c.(541-543)acC>acT	p.T181T	NTF4_ENST00000301411.3_Silent_p.T181T|CTB-60B18.18_ENST00000599209.1_lincRNA|CGB7_ENST00000356213.4_5'Flank|NTF4_ENST00000451356.2_Intron|CGB7_ENST00000597853.1_5'Flank|CTB-60B18.12_ENST00000597865.1_RNA|NTF4_ENST00000594938.1_5'Flank			P34130	NTF4_HUMAN	neurotrophin 4	181					adult locomotory behavior (GO:0008344)|epidermis development (GO:0008544)|ganglion mother cell fate determination (GO:0007402)|innervation (GO:0060384)|long-term memory (GO:0007616)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell death (GO:0060548)|sensory organ boundary specification (GO:0008052)|taste bud development (GO:0061193)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	growth factor activity (GO:0008083)			kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GGGCATCAGCGGTCAATGCCC	0.662																																						ENST00000301411.3																			0				kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6						c.(541-543)acC>acT		neurotrophin 4							42.0	37.0	39.0					19																	49564712		2203	4299	6502	SO:0001819	synonymous_variant	4909				adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification	endoplasmic reticulum lumen|extracellular region	growth factor activity	g.chr19:49564712G>A		CCDS12754.1	19q13.3	2014-01-30	2008-01-31	2008-01-31		ENSG00000225950		"""Endogenous ligands"""	8024	protein-coding gene	gene with protein product	"""neurotrophic factor 4"""	162662	"""neurotrophin 5 (neurotrophin 4/5)"""	NTF5		1496419	Standard	NM_006179		Approved	NT-4/5, GLC1O	uc010yah.1	P34130		ENST00000593537.1:c.543C>T	19.37:g.49564712G>A						NTF4_ENST00000593537.1_Silent_p.T181T|NTF4_ENST00000451356.2_Intron	p.T181T	NM_006179.4	NP_006170.1	P34130	NTF4_HUMAN		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	2	683	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	181					Q6FH56	Silent	SNP	ENST00000593537.1	37	c.543C>T	CCDS12754.1																																																																																				0.662	NTF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466258.1	NM_006179		12	26	0	0	0	0.080935	0	12	26				
SLC4A11	83959	broad.mit.edu	37	20	3211199	3211199	+	Silent	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr20:3211199G>A	ENST00000380056.3	-	11	1472	c.1425C>T	c.(1423-1425)gcC>gcT	p.A475A	SLC4A11_ENST00000488544.1_5'Flank|SLC4A11_ENST00000539553.2_Silent_p.A459A|SLC4A11_ENST00000380059.3_Silent_p.A502A	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	475	Membrane (bicarbonate transporter).				bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GGTTGAAAAAGGCATAAAGCG	0.532																																					NSCLC(190;922 2139 10266 10292 38692)	ENST00000380059.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						c.(1504-1506)gcC>gcT		solute carrier family 4, sodium borate transporter, member 11							108.0	107.0	108.0					20																	3211199		2203	4300	6503	SO:0001819	synonymous_variant	83959				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	g.chr20:3211199G>A	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.1425C>T	20.37:g.3211199G>A						SLC4A11_ENST00000380056.3_Silent_p.A475A|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000539553.1_Silent_p.A459A	p.A502A	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN			12	1607	-			475			Membrane (bicarbonate transporter).		B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Silent	SNP	ENST00000380056.3	37	c.1506C>T	CCDS13052.1																																																																																				0.532	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			16	57	0	0	0	0.160694	0	16	57				
PIBF1	10464	broad.mit.edu	37	13	73505317	73505317	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr13:73505317G>A	ENST00000326291.6	+	14	2083	c.1745G>A	c.(1744-1746)aGa>aAa	p.R582K		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	582						centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		CACTTGGCAAGAAGAGTGCTT	0.318																																						ENST00000326291.6																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(1744-1746)aGa>aAa		progesterone immunomodulatory binding factor 1							46.0	46.0	46.0					13																	73505317		2203	4299	6502	SO:0001583	missense	10464					centrosome		g.chr13:73505317G>A	AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"""progesterone-induced blocking factor 1"""	607532	"""chromosome 13 open reading frame 24"""	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.1745G>A	13.37:g.73505317G>A	ENSP00000317144:p.Arg582Lys						p.R582K	NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN		GBM - Glioblastoma multiforme(99;0.000664)	14	2083	+		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)	582					O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Missense_Mutation	SNP	ENST00000326291.6	37	c.1745G>A	CCDS31991.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.109721	0.56398	.	.	ENSG00000083535	ENST00000326291;ENST00000326314	T	0.22743	1.94	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.40015	0.1100	L	0.49640	1.575	0.54753	D	0.999985	D;D	0.61697	0.99;0.99	D;D	0.72982	0.979;0.979	T	0.01748	-1.1282	10	0.18710	T	0.47	-13.5444	18.0689	0.89399	0.0:0.0:1.0:0.0	.	582;582	Q8WXW3;Q4G0R1	PIBF1_HUMAN;.	K	582;41	ENSP00000317144:R582K	ENSP00000317144:R582K	R	+	2	0	PIBF1	72403318	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.312000	0.72840	2.786000	0.95864	0.591000	0.81541	AGA		0.318	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346		12	30	0	0	0	0.119110	0	12	30				
L3MBTL4	91133	broad.mit.edu	37	18	6311562	6311562	+	Silent	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr18:6311562G>A	ENST00000284898.6	-	3	263	c.63C>T	c.(61-63)gaC>gaT	p.D21D	L3MBTL4_ENST00000400104.3_Silent_p.D21D|L3MBTL4_ENST00000400105.2_Silent_p.D21D|L3MBTL4_ENST00000317931.7_Silent_p.D21D	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	21					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				CCAAGCGTCCGTCCTGATCCA	0.483																																					Esophageal Squamous(41;748 902 17366 28959 43175)	ENST00000400104.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(61-63)gaC>gaT		l(3)mbt-like 4 (Drosophila)							317.0	284.0	295.0					18																	6311562		2203	4300	6503	SO:0001819	synonymous_variant	91133				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:6311562G>A	BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"""Sterile alpha motif (SAM) domain containing"""	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.63C>T	18.37:g.6311562G>A						L3MBTL4_ENST00000284898.6_Silent_p.D21D|L3MBTL4_ENST00000400105.2_Silent_p.D21D|L3MBTL4_ENST00000317931.7_Silent_p.D21D	p.D21D			Q8NA19	LMBL4_HUMAN			3	263	-		Colorectal(10;0.0249)	21					A8MTL8|Q8IXS3	Silent	SNP	ENST00000284898.6	37	c.63C>T	CCDS11839.2																																																																																				0.483	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	NM_173464		38	131	0	0	0	0.117977	0	38	131				
IPP	3652	broad.mit.edu	37	1	46206708	46206708	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr1:46206708C>T	ENST00000396478.3	-	3	691	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	197						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					ACCTGGTATTCATCCTCAATG	0.413																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(589-591)Gaa>Aaa		intracisternal A particle-promoted polypeptide							187.0	180.0	183.0					1																	46206708		2203	4300	6503	SO:0001583	missense	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46206708C>T	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"""Kelch-like"", ""BTB/POZ domain containing"""	6108	protein-coding gene	gene with protein product	"""kelch-like family member 27"""	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.589G>A	1.37:g.46206708C>T	ENSP00000379739:p.Glu197Lys						p.E197K	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			3	691	-	Acute lymphoblastic leukemia(166;0.155)		197					A2A6V4|D3DQ11|Q8N5C3	Missense_Mutation	SNP	ENST00000396478.3	37	c.589G>A	CCDS30702.1	.	.	.	.	.	.	.	.	.	.	C	32	5.178434	0.94846	.	.	ENSG00000197429	ENST00000359942;ENST00000396478	D;D	0.93547	-3.24;-3.24	5.19	5.19	0.71726	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.98197	0.9404	H	0.98048	4.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99541	1.0963	10	0.87932	D	0	.	19.0741	0.93151	0.0:1.0:0.0:0.0	.	197;197	Q9Y573;A2A6V3	IPP_HUMAN;.	K	197	ENSP00000353024:E197K;ENSP00000379739:E197K	ENSP00000353024:E197K	E	-	1	0	IPP	45979295	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.398000	0.79919	2.586000	0.87340	0.655000	0.94253	GAA		0.413	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		23	61	0	0	0	0.069288	0	23	61				
LAMC2	3918	broad.mit.edu	37	1	183192457	183192457	+	Silent	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr1:183192457C>T	ENST00000264144.4	+	7	1016	c.951C>T	c.(949-951)ttC>ttT	p.F317F	LAMC2_ENST00000493293.1_Silent_p.F317F	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	317	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CTTACACATTCAGGTAAAAAG	0.413																																						ENST00000264144.4																			0				breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(949-951)ttC>ttT		laminin, gamma 2							95.0	92.0	93.0					1																	183192457		2203	4300	6503	SO:0001819	synonymous_variant	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183192457C>T	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.951C>T	1.37:g.183192457C>T						LAMC2_ENST00000493293.1_Silent_p.F317F	p.F317F	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN			7	1016	+			317			Laminin IV type A.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Silent	SNP	ENST00000264144.4	37	c.951C>T	CCDS1352.1																																																																																				0.413	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		16	36	0	0	0	0.146539	0	16	36				
ARHGAP8	23779	broad.mit.edu	37	22	45204236	45204236	+	Missense_Mutation	SNP	G	G	A	rs148849830		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr22:45204236G>A	ENST00000389774.2	+	4	358	c.217G>A	c.(217-219)Gtc>Atc	p.V73I	ARHGAP8_ENST00000389773.5_Missense_Mutation_p.V195I|ARHGAP8_ENST00000356099.6_Missense_Mutation_p.V73I|PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.V204I|PRR5-ARHGAP8_ENST00000352766.7_Intron|ARHGAP8_ENST00000336963.4_Missense_Mutation_p.V73I|ARHGAP8_ENST00000517296.3_Intron	NM_001017526.1	NP_001017526.1	P85298	RHG08_HUMAN	Rho GTPase activating protein 8	73	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		TTATACCATCGTCTATTTCCA	0.478																																						ENST00000361473.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						c.(610-612)Gtc>Atc				G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	89.0	79.0	83.0		217,217,583,217	0.8	0.5	22	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	ARHGAP8,PRR5-ARHGAP8	NM_001017526.1,NM_001198726.1,NM_181334.4,NM_181335.2	29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign	73/465,73/306,195/556,73/434	45204236	1,13005	2203	4300	6503	SO:0001583	missense	553158							g.chr22:45204236G>A	AF177331	CCDS14060.2, CCDS33664.1, CCDS56233.1	22q13.3	2010-05-11			ENSG00000241484	ENSG00000241484		"""Rho GTPase activating proteins"""	677	protein-coding gene	gene with protein product		609405				10591208	Standard	NM_001198726		Approved	FLJ20185, BPGAP1		P85298	OTTHUMG00000030234	ENST00000389774.2:c.217G>A	22.37:g.45204236G>A	ENSP00000374424:p.Val73Ile					PRR5-ARHGAP8_ENST00000352766.7_Intron|ARHGAP8_ENST00000389774.2_Missense_Mutation_p.V73I|ARHGAP8_ENST00000336963.4_Missense_Mutation_p.V73I|ARHGAP8_ENST00000356099.6_Missense_Mutation_p.V73I|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.V195I|ARHGAP8_ENST00000517296.3_Intron	p.V204I							7	852	+								A6ZJ79|A6ZJ80|O75983|O95695|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Missense_Mutation	SNP	ENST00000389774.2	37	c.610G>A	CCDS33664.1	.	.	.	.	.	.	.	.	.	.	G	5.021	0.189569	0.09547	0.0	1.16E-4	ENSG00000248405;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484	ENST00000361473;ENST00000389773;ENST00000389774;ENST00000396119;ENST00000336963;ENST00000356099;ENST00000412433	T;T;T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76	4.34	0.824	0.18818	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.222293	0.22584	U	0.058178	T	0.61887	0.2383	L	0.31926	0.97	0.29998	N	0.816294	B;B;B;B;B;B;B	0.30973	0.265;0.124;0.044;0.265;0.265;0.127;0.302	B;B;B;B;B;B;B	0.34418	0.078;0.03;0.012;0.078;0.05;0.069;0.182	T	0.58272	-0.7665	10	0.34782	T	0.22	.	10.583	0.45267	0.2613:0.0:0.7387:0.0	.	109;73;109;73;114;195;204	B7ZMA4;A6ZJ79;A2RU51;P85298;Q6PCC7;F8W6F3;B1AHC3	.;.;.;RHG08_HUMAN;.;.;.	I	204;195;73;73;73;73;73	ENSP00000354732:V204I;ENSP00000374423:V195I;ENSP00000374424:V73I;ENSP00000379425:V73I;ENSP00000337287:V73I;ENSP00000348407:V73I;ENSP00000402775:V73I	ENSP00000337287:V73I	V	+	1	0	PRR5-ARHGAP8;ARHGAP8	43582900	0.786000	0.28738	0.458000	0.27068	0.097000	0.18754	0.952000	0.29149	0.450000	0.26774	-0.216000	0.12614	GTC		0.478	ARHGAP8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075088.4	NM_017701		10	43	0	0	0	0.069234	0	10	43				
CASP8	841	broad.mit.edu	37	2	202150030	202150030	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:202150030C>T	ENST00000432109.2	+	9	1483	c.1294C>T	c.(1294-1296)Cga>Tga	p.R432*	CASP8_ENST00000264274.9_Nonsense_Mutation_p.R348*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.R417*|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264275.5_Nonsense_Mutation_p.R449*|CASP8_ENST00000358485.4_Nonsense_Mutation_p.R491*	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	432					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.R449*(2)|p.R491*(2)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CCTGAGAGAGCGATGTCCTCG	0.507										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			4	Substitution - Nonsense(4)	p.R449*(2)|p.R491*(2)	large_intestine(4)	breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.(1471-1473)Cga>Tga		caspase 8, apoptosis-related cysteine peptidase							88.0	79.0	82.0					2																	202150030		2203	4300	6503	SO:0001587	stop_gained	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202150030C>T	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.1294C>T	2.37:g.202150030C>T	ENSP00000412523:p.Arg432*	HNSCC(4;0.00038)				CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000323492.7_Nonsense_Mutation_p.R417*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.R348*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.R432*|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000264275.5_Nonsense_Mutation_p.R449*	p.R491*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			8	1667	+			432					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Nonsense_Mutation	SNP	ENST00000432109.2	37	c.1471C>T	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854011	0.91355	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	.	.	.	5.37	-0.0641	0.13774	.	0.491720	0.23362	N	0.049019	.	.	.	.	.	.	0.33432	D	0.581203	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.7959	0.08738	0.4714:0.3404:0.0731:0.1151	.	.	.	.	X	417;348;432;449;491;417;211	.	ENSP00000264274:R348X	R	+	1	2	CASP8	201858275	0.981000	0.34729	0.997000	0.53966	0.724000	0.41520	0.848000	0.27710	0.348000	0.23949	-0.314000	0.08810	CGA		0.507	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		21	45	0	0	0	0.069288	0	21	45				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	3	43	0	0	0	0.150653	0	3	43				
NETO1	81832	broad.mit.edu	37	18	70526309	70526309	+	Splice_Site	SNP	G	G	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr18:70526309G>T	ENST00000327305.6	-	4	878	c.221C>A	c.(220-222)gCc>gAc	p.A74D	NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000299430.2_Splice_Site_p.A73D|NETO1_ENST00000397929.1_Splice_Site_p.A73D|NETO1_ENST00000583169.1_Splice_Site_p.A74D	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	74	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TCTTGGAGCGGCTGTAAAGAA	0.368																																						ENST00000327305.6																			0				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63						c.e4-1		neuropilin (NRP) and tolloid (TLL)-like 1							52.0	52.0	52.0					18																	70526309		2203	4300	6503	SO:0001630	splice_region_variant	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70526309G>T	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.221-1C>A	18.37:g.70526309G>T						NETO1_ENST00000397929.1_Splice_Site_p.A73_splice|NETO1_ENST00000299430.2_Splice_Site_p.A73_splice|NETO1_ENST00000583169.1_Splice_Site_p.A74_splice|NETO1_ENST00000580049.1_5'UTR	p.A74_splice	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	4	878	-		Esophageal squamous(42;0.129)	74			CUB 1.		Q86W85|Q8ND78|Q8TDF4	Splice_Site	SNP	ENST00000327305.6	37	c.220_splice	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844520	0.91197	.	.	ENSG00000166342	ENST00000327305;ENST00000299430;ENST00000397929	T;T;T	0.39787	1.06;1.06;1.32	4.99	4.99	0.66335	CUB (5);	0.000000	0.64402	D	0.000014	T	0.78084	0.4228	H	0.97540	4.025	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.996;0.997;0.998	D	0.86661	0.1904	10	0.87932	D	0	.	18.6498	0.91427	0.0:0.0:1.0:0.0	.	73;73;74	Q8TDF5-1;Q8TDF5-2;Q8TDF5	.;.;NETO1_HUMAN	D	74;73;73	ENSP00000313088:A74D;ENSP00000299430:A73D;ENSP00000381024:A73D	ENSP00000299430:A73D	A	-	2	0	NETO1	68677289	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	9.745000	0.98856	2.475000	0.83589	0.591000	0.81541	GCC		0.368	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999	Missense_Mutation	11	49	1	0	5.16669e-11	0.080935	6.04612e-11	11	49				
SPTA1	6708	broad.mit.edu	37	1	158655086	158655086	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr1:158655086C>T	ENST00000368147.4	-	2	256	c.76G>A	c.(76-78)Gag>Aag	p.E26K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	26					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.E26*(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGACGCCTCTCCTGGATCTCT	0.443																																						ENST00000368148.3																			1	Substitution - Nonsense(1)	p.E26*(1)	lung(1)	NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(76-78)Gag>Aag		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							146.0	145.0	146.0					1																	158655086		1900	4122	6022	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158655086C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.76G>A	1.37:g.158655086C>T	ENSP00000357129:p.Glu26Lys					SPTA1_ENST00000368147.3_Missense_Mutation_p.E26K	p.E26K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			2	256	-	all_hematologic(112;0.0378)		26					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.76G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.122661	0.56613	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.36340	1.26;1.26	4.98	0.727	0.18254	.	1.719800	0.03994	N	0.295375	T	0.18215	0.0437	M	0.61703	1.905	0.33539	D	0.594619	B	0.06786	0.001	B	0.12156	0.007	T	0.12142	-1.0559	10	0.52906	T	0.07	.	6.3053	0.21135	0.0:0.4749:0.3357:0.1894	.	26	P02549	SPTA1_HUMAN	K	26	ENSP00000357130:E26K;ENSP00000357129:E26K	ENSP00000357129:E26K	E	-	1	0	SPTA1	156921710	1.000000	0.71417	0.351000	0.25721	0.997000	0.91878	1.430000	0.34914	-0.025000	0.13918	0.467000	0.42956	GAG		0.443	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		22	74	0	0	0	0.069288	0	22	74				
PRAME	23532	broad.mit.edu	37	22	22890816	22890816	+	Silent	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr22:22890816G>A	ENST00000398741.1	-	6	1509	c.1203C>T	c.(1201-1203)tcC>tcT	p.S401S	PRAME_ENST00000539862.1_Silent_p.S385S|PRAME_ENST00000543184.1_Silent_p.S401S|PRAME_ENST00000402697.1_Silent_p.S401S|PRAME_ENST00000405655.3_Silent_p.S401S|PRAME_ENST00000398743.2_Silent_p.S401S|PRAME_ENST00000424204.2_Silent_p.S385S|PRAME_ENST00000485532.1_5'Flank	NM_206955.1	NP_996838.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	401					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|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)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	retinoic acid receptor binding (GO:0042974)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		AGTGGCTCAGGGAAGGCAGGA	0.572																																					Melanoma(73;1707 1838 15168 27201)	ENST00000543184.1																			0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1201-1203)tcC>tcT		preferentially expressed antigen in melanoma							89.0	87.0	88.0					22																	22890816		2203	4300	6503	SO:0001819	synonymous_variant	23532				apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	g.chr22:22890816G>A	U65011	CCDS13801.1	22q11.22	2013-01-17			ENSG00000185686	ENSG00000185686		"""-"""	9336	protein-coding gene	gene with protein product	"""cancer/testis antigen 130"""	606021		MAPE		9047241, 10591208	Standard	XM_006725402		Approved	CT130	uc002zwj.3	P78395	OTTHUMG00000151172	ENST00000398741.1:c.1203C>T	22.37:g.22890816G>A						PRAME_ENST00000398741.1_Silent_p.S401S|PRAME_ENST00000539862.1_Silent_p.S385S|PRAME_ENST00000402697.1_Silent_p.S401S|PRAME_ENST00000405655.3_Silent_p.S401S|PRAME_ENST00000424204.2_Silent_p.S385S|PRAME_ENST00000398743.2_Silent_p.S401S	p.S401S	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN		READ - Rectum adenocarcinoma(21;0.0649)	5	2065	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)	401					B2R6Y7|O43481|Q8IXN8	Silent	SNP	ENST00000398741.1	37	c.1203C>T	CCDS13801.1																																																																																				0.572	PRAME-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321644.1	NM_206953		8	47	0	0	0	0.038147	0	8	47				
SRPX	8406	broad.mit.edu	37	X	38009017	38009017	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chrX:38009017T>C	ENST00000378533.3	-	10	1448	c.1342A>G	c.(1342-1344)Aga>Gga	p.R448G	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000544439.1_Missense_Mutation_p.R428G|SRPX_ENST00000343800.6_Missense_Mutation_p.R435G|SRPX_ENST00000538295.1_3'UTR|SRPX_ENST00000479015.1_5'UTR|SRPX_ENST00000432886.2_Missense_Mutation_p.R389G	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	448					autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						TCTTCTTTTCTCAAGGGAAAA	0.478																																						ENST00000378533.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						c.(1342-1344)Aga>Gga		sushi-repeat containing protein, X-linked							136.0	103.0	114.0					X																	38009017		2202	4300	6502	SO:0001583	missense	8406				cell adhesion	cell surface|membrane		g.chrX:38009017T>C	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"""sushi-repeat-containing protein, X chromosome"", ""sushi-repeat-containing protein, X-linked"""			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.1342A>G	X.37:g.38009017T>C	ENSP00000367794:p.Arg448Gly					SRPX_ENST00000479015.1_5'UTR|SRPX_ENST00000343800.6_Missense_Mutation_p.R435G|SRPX_ENST00000432886.2_Missense_Mutation_p.R389G|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000544439.1_Missense_Mutation_p.R428G|SRPX_ENST00000538295.1_3'UTR	p.R448G	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN			10	1448	-			448					A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	Missense_Mutation	SNP	ENST00000378533.3	37	c.1342A>G	CCDS14245.1	.	.	.	.	.	.	.	.	.	.	T	18.24	3.579433	0.65878	.	.	ENSG00000101955	ENST00000544439;ENST00000432886;ENST00000378533;ENST00000343800	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.80717	0.4676	M	0.82716	2.605	0.80722	D	1	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.91635	0.999;0.99;0.998	T	0.82348	-0.0502	10	0.49607	T	0.09	-20.5938	15.449	0.75257	0.0:0.0:0.0:1.0	.	389;428;448	B4DQH5;G3V1L0;P78539	.;.;SRPX_HUMAN	G	428;389;448;435	ENSP00000440758:R428G;ENSP00000411165:R389G;ENSP00000367794:R448G;ENSP00000339211:R435G	ENSP00000339211:R435G	R	-	1	2	SRPX	37893961	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	3.424000	0.52764	2.032000	0.59987	0.481000	0.45027	AGA		0.478	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307		4	32	0	0	0	0.150653	0	4	32				
NXF3	56000	broad.mit.edu	37	X	102337277	102337277	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chrX:102337277C>T	ENST00000395065.3	-	9	897	c.796G>A	c.(796-798)Gag>Aag	p.E266K	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.E177K	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	266					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TTGTCCATCTCCCCTGCAGAC	0.542																																						ENST00000395065.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(796-798)Gag>Aag		nuclear RNA export factor 3							316.0	217.0	250.0					X																	102337277		2203	4300	6503	SO:0001583	missense	56000					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:102337277C>T	AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.796G>A	X.37:g.102337277C>T	ENSP00000378504:p.Glu266Lys					NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.E177K	p.E266K	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN			9	897	-			266					B4DYS7|Q5H9I1|Q9H1A9	Missense_Mutation	SNP	ENST00000395065.3	37	c.796G>A	CCDS14503.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.61|10.61	1.397760|1.397760	0.25205|0.25205	.|.	.|.	ENSG00000147206|ENSG00000147206	ENST00000395065;ENST00000425463|ENST00000427570	T;T|T	0.55234|0.39787	0.78;0.53|1.06	3.27|3.27	0.354|0.354	0.16063|0.16063	.|.	0.274240|.	0.39985|.	N|.	0.001207|.	T|T	0.32010|0.32010	0.0815|0.0815	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	1|1	B;B;B|.	0.19331|.	0.035;0.017;0.034|.	B;B;B|.	0.29663|.	0.019;0.011;0.105|.	T|T	0.26950|0.26950	-1.0088|-1.0088	10|7	0.30078|0.40728	T|T	0.28|0.16	-8.3056|-8.3056	5.7868|5.7868	0.18338|0.18338	0.0:0.6017:0.0:0.3983|0.0:0.6017:0.0:0.3983	.|.	266;162;266|.	B4DYI1;E9PEY7;Q9H4D5|.	.;.;NXF3_HUMAN|.	K|E	266;177|142	ENSP00000378504:E266K;ENSP00000404347:E177K|ENSP00000404017:G142E	ENSP00000378504:E266K|ENSP00000404017:G142E	E|G	-|-	1|2	0|0	NXF3|NXF3	102223933|102223933	0.174000|0.174000	0.23070|0.23070	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	0.455000|0.455000	0.21843|0.21843	-0.040000|-0.040000	0.13580|0.13580	0.529000|0.529000	0.55759|0.55759	GAG|GGA		0.542	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1	NM_022052		13	112	0	0	0	0.105934	0	13	112				
ZNF804B	219578	broad.mit.edu	37	7	88963052	88963052	+	Silent	SNP	C	C	G			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr7:88963052C>G	ENST00000333190.4	+	4	1365	c.756C>G	c.(754-756)ccC>ccG	p.P252P		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	252							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)			ACAAGTCACCCATTTATAAAA	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.(754-756)ccC>ccG		zinc finger protein 804B							75.0	70.0	72.0					7																	88963052		2203	4300	6503	SO:0001819	synonymous_variant	219578					intracellular	zinc ion binding	g.chr7:88963052C>G	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.756C>G	7.37:g.88963052C>G		HNSCC(36;0.09)					p.P252P	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	1365	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		252					B2RTV2|Q7Z714|Q96MN7	Silent	SNP	ENST00000333190.4	37	c.756C>G	CCDS5613.1																																																																																				0.343	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		7	36	0	0	0	0.038147	0	7	36				
ZDHHC21	340481	broad.mit.edu	37	9	14674243	14674243	+	Silent	SNP	G	G	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr9:14674243G>T	ENST00000380916.4	-	4	562	c.96C>A	c.(94-96)ccC>ccA	p.P32P		NM_178566.4	NP_848661.1	Q8IVQ6	ZDH21_HUMAN	zinc finger, DHHC-type containing 21	32					hair follicle development (GO:0001942)|nitric oxide metabolic process (GO:0046209)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)|regulation of nitric-oxide synthase activity (GO:0050999)|sebaceous gland development (GO:0048733)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9				GBM - Glioblastoma multiforme(50;4.31e-06)		GGACAATTTTGGGAATTAAAA	0.333																																						ENST00000380916.3																			0				endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9						c.(94-96)ccC>ccA		zinc finger, DHHC-type containing 21							90.0	97.0	94.0					9																	14674243		2203	4299	6502	SO:0001819	synonymous_variant	340481				nitric oxide metabolic process|regulation of nitric-oxide synthase activity	Golgi membrane|integral to membrane	palmitoyltransferase activity|zinc ion binding	g.chr9:14674243G>T	AF161360	CCDS6475.1	9p22.3	2010-02-09			ENSG00000175893	ENSG00000175893		"""Zinc fingers, DHHC-type"""	20750	protein-coding gene	gene with protein product		614605				19956733	Standard	NM_178566		Approved	HSPC097, DNZ1	uc003zlg.2	Q8IVQ6	OTTHUMG00000019573	ENST00000380916.4:c.96C>A	9.37:g.14674243G>T							p.P32P	NM_178566.4	NP_848661.1	Q8IVQ6	ZDH21_HUMAN		GBM - Glioblastoma multiforme(50;4.31e-06)	4	562	-			32					A8KA95|D3DRI7|Q5VWG1	Silent	SNP	ENST00000380916.4	37	c.96C>A	CCDS6475.1																																																																																				0.333	ZDHHC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051748.2	NM_178566		12	198	1	0	0.000151284	0.105934	0.000160012	12	198				
CCDC51	79714	broad.mit.edu	37	3	48476325	48476325	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr3:48476325G>A	ENST00000395694.2	-	2	299	c.214C>T	c.(214-216)Cag>Tag	p.Q72*	CCDC51_ENST00000442740.1_5'UTR|CCDC51_ENST00000447018.1_5'UTR|CCDC51_ENST00000395696.1_Nonsense_Mutation_p.Q72*|CCDC51_ENST00000412398.2_5'UTR	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	72						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCTCGTTGCTGAATGCTGTGC	0.612																																						ENST00000395694.2																			0				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(214-216)Cag>Tag		coiled-coil domain containing 51							77.0	81.0	80.0					3																	48476325		1999	4174	6173	SO:0001587	stop_gained	79714					integral to membrane		g.chr3:48476325G>A	AK022498	CCDS2766.2, CCDS58830.1	3p21.31	2005-12-30			ENSG00000164051	ENSG00000164051			25714	protein-coding gene	gene with protein product						12477932	Standard	NM_001256964		Approved	FLJ12436	uc003ctc.3	Q96ER9	OTTHUMG00000133534	ENST00000395694.2:c.214C>T	3.37:g.48476325G>A	ENSP00000379047:p.Gln72*					CCDC51_ENST00000412398.2_5'UTR|CCDC51_ENST00000447018.1_5'UTR|CCDC51_ENST00000442740.1_5'UTR|CCDC51_ENST00000395696.1_Nonsense_Mutation_p.Q72*	p.Q72*	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	2	299	-			72					Q9HA01	Nonsense_Mutation	SNP	ENST00000395694.2	37	c.214C>T	CCDS2766.2	.	.	.	.	.	.	.	.	.	.	G	14.51	2.557072	0.45590	.	.	ENSG00000164051	ENST00000395694;ENST00000395696;ENST00000446140	.	.	.	4.77	2.82	0.32997	.	1.105750	0.06730	N	0.776456	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.6201	6.8058	0.23777	0.0847:0.0:0.6235:0.2918	.	.	.	.	X	72	.	ENSP00000379047:Q72X	Q	-	1	0	CCDC51	48451329	0.941000	0.31946	0.186000	0.23195	0.918000	0.54935	2.010000	0.40913	1.120000	0.41904	0.467000	0.42956	CAG		0.612	CCDC51-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344599.2	NM_024661		16	59	0	0	0	0.132662	0	16	59				
POU3F2	5454	broad.mit.edu	37	6	99283616	99283616	+	Silent	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr6:99283616G>A	ENST00000328345.5	+	1	1037	c.867G>A	c.(865-867)gcG>gcA	p.A289A		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	289	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		TTACCCAAGCGGACGTGGGGC	0.607																																						ENST00000328345.5																			0				endometrium(2)|large_intestine(3)|lung(5)	10						c.(865-867)gcG>gcA		POU class 3 homeobox 2							180.0	190.0	187.0					6																	99283616		2203	4300	6503	SO:0001819	synonymous_variant	5454				positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:99283616G>A	Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"""Homeoboxes / POU class"""	9215	protein-coding gene	gene with protein product		600494	"""POU domain class 3, transcription factor 2"""	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.867G>A	6.37:g.99283616G>A							p.A289A	NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0355)	1	1037	+		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)	289			POU-specific.		Q14960|Q86V54|Q9UJL0	Silent	SNP	ENST00000328345.5	37	c.867G>A	CCDS5040.1																																																																																				0.607	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041586.2			39	153	0	0	0	0.117977	0	39	153				
DNAH7	56171	broad.mit.edu	37	2	196726485	196726485	+	Silent	SNP	G	G	C			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:196726485G>C	ENST00000312428.6	-	42	7792	c.7692C>G	c.(7690-7692)ctC>ctG	p.L2564L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2564					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGATTAATTCGAGGTAAGAGG	0.308																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(7690-7692)ctC>ctG		dynein, axonemal, heavy chain 7							74.0	70.0	71.0					2																	196726485		1805	4063	5868	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196726485G>C	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.7692C>G	2.37:g.196726485G>C							p.L2564L	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			42	7792	-			2564					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.7692C>G	CCDS42794.1																																																																																				0.308	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		17	24	0	0	0	0.175082	0	17	24				
CDH13	1012	broad.mit.edu	37	16	83813633	83813633	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr16:83813633A>G	ENST00000566620.1	+	12	2032	c.1742A>G	c.(1741-1743)aAt>aGt	p.N581S	CDH13_ENST00000268613.10_Missense_Mutation_p.N628S|CDH13_ENST00000428848.3_Missense_Mutation_p.N542S	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	581	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GTGAATGACAATGCCCCGTTC	0.488																																						ENST00000566620.1																			0				large_intestine(1)	1						c.(1741-1743)aAt>aGt		cadherin 13							107.0	100.0	102.0					16																	83813633		1947	4183	6130	SO:0001583	missense	1012				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	g.chr16:83813633A>G	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.1742A>G	16.37:g.83813633A>G	ENSP00000454435:p.Asn581Ser					CDH13_ENST00000428848.3_Missense_Mutation_p.N542S|CDH13_ENST00000268613.10_Missense_Mutation_p.N628S	p.N581S	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	12	2032	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	581			Cadherin 4.		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	ENST00000566620.1	37	c.1742A>G	CCDS58486.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.406082	0.83230	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143;ENST00000538855;ENST00000539548;ENST00000540531	T	0.63580	-0.05	5.52	5.52	0.82312	Cadherin (4);Cadherin conserved site (1);Cadherin-like (2);	.	.	.	.	D	0.83073	0.5175	M	0.90977	3.165	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.87578	0.991;0.998;0.97	D	0.87121	0.2191	9	0.87932	D	0	.	14.8271	0.70122	1.0:0.0:0.0:0.0	.	542;628;581	B7Z590;B7Z9B1;P55290	.;.;CAD13_HUMAN	S	628;581;542;283;140;271	ENSP00000268613:N628S	ENSP00000268613:N628S	N	+	2	0	CDH13	82371134	1.000000	0.71417	0.921000	0.36526	0.962000	0.63368	8.336000	0.90033	2.077000	0.62373	0.533000	0.62120	AAT		0.488	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		6	18	0	0	0	0.038147	0	6	18				
PANX3	116337	broad.mit.edu	37	11	124489330	124489330	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr11:124489330C>A	ENST00000284288.2	+	4	745	c.678C>A	c.(676-678)taC>taA	p.Y226*		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	226					cell-cell signaling (GO:0007267)|ion transport (GO:0006811)|protein hexamerization (GO:0034214)|transmembrane transport (GO:0055085)	gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		CTTACCTATACCTTGGTCATT	0.507																																						ENST00000284288.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26						c.(676-678)taC>taA		pannexin 3							138.0	97.0	111.0					11																	124489330		2201	4299	6500	SO:0001587	stop_gained	116337				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr11:124489330C>A	AF406650	CCDS8447.1	11q24.2	2011-12-02			ENSG00000154143	ENSG00000154143		"""Ion channels / Pannexins"""	20573	protein-coding gene	gene with protein product		608422					Standard	NM_052959		Approved	Px3	uc001qah.3	Q96QZ0	OTTHUMG00000165925	ENST00000284288.2:c.678C>A	11.37:g.124489330C>A	ENSP00000284288:p.Tyr226*						p.Y226*	NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)	4	745	+	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	226						Nonsense_Mutation	SNP	ENST00000284288.2	37	c.678C>A	CCDS8447.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.815904	0.70912	.	.	ENSG00000154143	ENST00000284288	.	.	.	5.24	4.33	0.51752	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.6071	9.9337	0.41539	0.0:0.8447:0.0:0.1553	.	.	.	.	X	226	.	ENSP00000284288:Y226X	Y	+	3	2	PANX3	123994540	1.000000	0.71417	1.000000	0.80357	0.498000	0.33706	4.275000	0.58927	1.217000	0.43442	0.561000	0.74099	TAC		0.507	PANX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387064.1			3	23	1	0	6.4e-05	0.115264	6.85714e-05	3	23				
UPRT	139596	broad.mit.edu	37	X	74494381	74494381	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chrX:74494381G>C	ENST00000373383.4	+	1	459	c.292G>C	c.(292-294)Gag>Cag	p.E98Q	UPRT_ENST00000531704.1_3'UTR|UPRT_ENST00000373379.1_Missense_Mutation_p.E98Q|UPRT_ENST00000530743.1_5'Flank	NM_145052.3	NP_659489.1	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	98					female pregnancy (GO:0007565)|lactation (GO:0007595)|response to insulin (GO:0032868)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						CTCCTTCCTAGAGGACTGCGA	0.582																																						ENST00000373379.1																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						c.(292-294)Gag>Cag		uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)							32.0	26.0	28.0					X																	74494381		2203	4300	6503	SO:0001583	missense	139596				nucleoside metabolic process	cytoplasm|nucleus		g.chrX:74494381G>C	BC015116	CCDS14429.1	Xq13.3	2009-01-14			ENSG00000094841	ENSG00000094841			28334	protein-coding gene	gene with protein product		300656				12477932	Standard	NM_145052		Approved	DKFZp781E1243, MGC23937, FUR1, RP11-311P8.3	uc004ecb.2	Q96BW1	OTTHUMG00000021864	ENST00000373383.4:c.292G>C	X.37:g.74494381G>C	ENSP00000362481:p.Glu98Gln					UPRT_ENST00000531704.1_3'UTR|UPRT_ENST00000373383.4_Missense_Mutation_p.E98Q	p.E98Q			Q96BW1	UPP_HUMAN			1	457	+			98					Q5JRL1|Q5JRL3|Q68DN0|Q96MW2	Missense_Mutation	SNP	ENST00000373383.4	37	c.292G>C	CCDS14429.1	.	.	.	.	.	.	.	.	.	.	G	6.969	0.548824	0.13312	.	.	ENSG00000094841	ENST00000373383;ENST00000373379	.	.	.	5.38	2.64	0.31445	.	1.034150	0.07684	N	0.937521	T	0.24547	0.0595	N	0.08118	0	0.18873	N	0.999984	B;B;B	0.16802	0.004;0.019;0.019	B;B;B	0.18871	0.009;0.023;0.023	T	0.24225	-1.0166	9	0.34782	T	0.22	-20.8	8.637	0.33955	0.2674:0.0:0.7326:0.0	.	98;98;98	Q96BW1-2;A8KAF9;Q96BW1	.;.;UPP_HUMAN	Q	98	.	ENSP00000362471:E98Q	E	+	1	0	UPRT	74411106	0.863000	0.29885	0.004000	0.12327	0.014000	0.08584	2.979000	0.49313	0.639000	0.30564	-0.191000	0.12829	GAG		0.582	UPRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057278.1	NM_145052		2	18	0	0	0	0.115264	0	2	18				
NBEAL2	23218	broad.mit.edu	37	3	47041650	47041650	+	Missense_Mutation	SNP	C	C	T	rs200629151	byFrequency	TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr3:47041650C>T	ENST00000450053.3	+	27	4240	c.4061C>T	c.(4060-4062)aCg>aTg	p.T1354M	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Intron	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1354					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCATTCTGCACGCCCTTTGAC	0.617													C|||	5	0.000998403	0.0023	0.0	5008	,	,		19275	0.002		0.0	False		,,,				2504	0.0					ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(4060-4062)aCg>aTg		neurobeachin-like 2		C	MET/THR	5,4175		0,5,2085	134.0	141.0	139.0		4061	0.6	0.0	3		139	2,8428		0,2,4213	yes	missense	NBEAL2	NM_015175.1	81	0,7,6298	TT,TC,CC		0.0237,0.1196,0.0555	benign	1354/2755	47041650	7,12603	2090	4215	6305	SO:0001583	missense	23218						binding	g.chr3:47041650C>T	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.4061C>T	3.37:g.47041650C>T	ENSP00000415034:p.Thr1354Met					NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Intron	p.T1354M	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	27	4240	+		Acute lymphoblastic leukemia(5;0.0534)	1354					O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	c.4061C>T	CCDS46817.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	8.118	0.780291	0.16120	0.001196	2.37E-4	ENSG00000160796	ENST00000450053	T	0.57436	0.4	5.48	0.588	0.17445	.	.	.	.	.	T	0.37865	0.1019	N	0.25647	0.755	0.09310	N	0.999999	B	0.09022	0.002	B	0.04013	0.001	T	0.24190	-1.0167	9	0.46703	T	0.11	.	10.2025	0.43094	0.0:0.6212:0.0:0.3788	.	1354	Q6ZNJ1	NBEL2_HUMAN	M	1354	ENSP00000415034:T1354M	ENSP00000415034:T1354M	T	+	2	0	NBEAL2	47016654	0.000000	0.05858	0.001000	0.08648	0.857000	0.48899	0.083000	0.14871	-0.183000	0.10585	-1.149000	0.01842	ACG		0.617	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		4	104	0	0	0	0.150653	0	4	104				
DOK1	1796	broad.mit.edu	37	2	74783065	74783065	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:74783065C>T	ENST00000233668.5	+	4	1168	c.499C>T	c.(499-501)Cgc>Tgc	p.R167C	LOXL3_ENST00000409986.1_5'Flank|M1AP_ENST00000464686.1_5'Flank|LOXL3_ENST00000409549.1_5'Flank|LOXL3_ENST00000264094.3_5'Flank|DOK1_ENST00000409429.1_Missense_Mutation_p.R28C|LOXL3_ENST00000393937.2_5'Flank|DOK1_ENST00000340004.6_Intron|DOK1_ENST00000480318.1_3'UTR	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	167	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				cell surface receptor signaling pathway (GO:0007166)|insulin receptor signaling pathway (GO:0008286)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor signaling protein activity (GO:0005057)			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGCCGCCGAGCGCTGTGGCCT	0.637																																					Esophageal Squamous(36;520 860 12502 33616 51270)	ENST00000233668.5																			0				endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(499-501)Cgc>Tgc		docking protein 1, 62kDa (downstream of tyrosine kinase 1)							52.0	51.0	51.0					2																	74783065		2203	4299	6502	SO:0001583	missense	1796				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding	g.chr2:74783065C>T	U70987	CCDS1954.1, CCDS56125.1	2p13	2008-05-21	2002-08-29		ENSG00000115325	ENSG00000115325			2990	protein-coding gene	gene with protein product		602919	"""docking protein 1, 62kD (downstream of tyrosine kinase 1)"""			9008160, 9790776, 15546884	Standard	NM_001381		Approved	p62dok	uc002sms.3	Q99704	OTTHUMG00000129956	ENST00000233668.5:c.499C>T	2.37:g.74783065C>T	ENSP00000233668:p.Arg167Cys					DOK1_ENST00000340004.6_Intron|DOK1_ENST00000409429.1_Missense_Mutation_p.R28C|DOK1_ENST00000480318.1_3'UTR	p.R167C	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN			4	1168	+			167			IRS-type PTB.		O43204|Q53TY2|Q9UHG6	Missense_Mutation	SNP	ENST00000233668.5	37	c.499C>T	CCDS1954.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.843507	0.91197	.	.	ENSG00000115325	ENST00000409429;ENST00000233668	T;T	0.76448	-1.02;-1.02	4.5	4.5	0.54988	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (3);	0.052909	0.85682	D	0.000000	D	0.88175	0.6366	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.989	D	0.89646	0.3866	10	0.66056	D	0.02	-0.64	15.0832	0.72130	0.0:1.0:0.0:0.0	.	156;167	B4DJN1;Q99704	.;DOK1_HUMAN	C	28;167	ENSP00000387016:R28C;ENSP00000233668:R167C	ENSP00000233668:R167C	R	+	1	0	DOK1	74636573	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.944000	0.40263	2.503000	0.84419	0.561000	0.74099	CGC		0.637	DOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252218.3	NM_001381		12	31	0	0	0	0.105934	0	12	31				
PRSS1	5644	broad.mit.edu	37	7	142458445	142458445	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr7:142458445G>A	ENST00000311737.7	+	2	86	c.80G>A	c.(79-81)gGc>gAc	p.G27D	PRSS1_ENST00000486171.1_Missense_Mutation_p.G27D	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	27	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	ATCGTTGGGGGCTACAACTGT	0.537																																						ENST00000486171.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38						c.(79-81)gGc>gAc		protease, serine, 1 (trypsin 1)							155.0	151.0	153.0					7																	142458445		2203	4300	6503	SO:0001583	missense	5644				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142458445G>A	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.80G>A	7.37:g.142458445G>A	ENSP00000308720:p.Gly27Asp					PRSS1_ENST00000311737.7_Missense_Mutation_p.G27D	p.G27D			P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		2	97	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	27			Peptidase S1.		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	c.80G>A	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.929197	0.52759	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243	D;D	0.96685	-4.09;-4.09	3.49	3.49	0.39957	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.048622	0.85682	D	0.000000	D	0.98623	0.9539	H	0.96239	3.79	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.99402	1.0928	10	0.87932	D	0	.	14.3966	0.67015	0.0:0.0:1.0:0.0	.	27	P07477	TRY1_HUMAN	D	27	ENSP00000417854:G27D;ENSP00000308720:G27D	ENSP00000308720:G27D	G	+	2	0	PRSS1	142138019	1.000000	0.71417	1.000000	0.80357	0.013000	0.08279	9.521000	0.98029	1.879000	0.54435	0.404000	0.27445	GGC		0.537	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			21	153	0	0	0	0.099896	0	21	153				
ATP9A	10079	broad.mit.edu	37	20	50225128	50225128	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr20:50225128G>C	ENST00000338821.5	-	25	2938	c.2674C>G	c.(2674-2676)Ctg>Gtg	p.L892V	ATP9A_ENST00000311637.5_Missense_Mutation_p.L756V|ATP9A_ENST00000402822.1_Missense_Mutation_p.L771V	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	892					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCCAGGACCAGAGAAAACACA	0.483																																						ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2674-2676)Ctg>Gtg		ATPase, class II, type 9A							159.0	140.0	146.0					20																	50225128		2203	4300	6503	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50225128G>C	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.2674C>G	20.37:g.50225128G>C	ENSP00000342481:p.Leu892Val					ATP9A_ENST00000311637.5_Missense_Mutation_p.L756V|ATP9A_ENST00000402822.1_Missense_Mutation_p.L771V	p.L892V	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN			25	2938	-			892					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.2674C>G	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872593	0.91587	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	D;D;D	0.94576	-3.46;-3.46;-3.46	5.04	5.04	0.67666	.	0.000000	0.64402	D	0.000001	D	0.97142	0.9066	M	0.81497	2.545	0.80722	D	1	D;D	0.76494	0.974;0.999	D;P	0.67725	0.953;0.844	D	0.97868	1.0284	10	0.87932	D	0	-11.433	18.3614	0.90375	0.0:0.0:1.0:0.0	.	771;892	O75110-2;O75110	.;ATP9A_HUMAN	V	756;892;771	ENSP00000309086:L756V;ENSP00000342481:L892V;ENSP00000385875:L771V	ENSP00000309086:L756V	L	-	1	2	ATP9A	49658535	1.000000	0.71417	0.953000	0.39169	0.871000	0.50021	5.683000	0.68189	2.315000	0.78130	0.655000	0.94253	CTG		0.483	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		10	31	0	0	0	0.069234	0	10	31				
MYH4	4622	broad.mit.edu	37	17	10363395	10363395	+	Silent	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr17:10363395C>T	ENST00000255381.2	-	14	1400	c.1290G>A	c.(1288-1290)ctG>ctA	p.L430L	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	430	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGGCTTTGGCCAGAGCACCCA	0.473																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(1288-1290)ctG>ctA		myosin, heavy chain 4, skeletal muscle							202.0	185.0	191.0					17																	10363395		2203	4300	6503	SO:0001819	synonymous_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10363395C>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1290G>A	17.37:g.10363395C>T						CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.L430L	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			14	1400	-			430			Myosin head-like.			Silent	SNP	ENST00000255381.2	37	c.1290G>A	CCDS11154.1																																																																																				0.473	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		17	163	0	0	0	0.160694	0	17	163				
NEDD4	4734	broad.mit.edu	37	15	56134138	56134138	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr15:56134138G>A	ENST00000508342.1	-	15	3388	c.3089C>T	c.(3088-3090)tCt>tTt	p.S1030F	NEDD4_ENST00000506154.1_Missense_Mutation_p.S1014F|NEDD4_ENST00000338963.2_Missense_Mutation_p.S958F|NEDD4_ENST00000435532.3_Missense_Mutation_p.S611F	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1030	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)	p.S611C(1)|p.S958C(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TTACGTAGCAGAATATTCAAA	0.403																																						ENST00000508342.1																			2	Substitution - Missense(2)	p.S611C(1)|p.S958C(1)	endometrium(2)	breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(3088-3090)tCt>tTt		neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase							87.0	84.0	85.0					15																	56134138		2193	4292	6485	SO:0001583	missense	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56134138G>A	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.3089C>T	15.37:g.56134138G>A	ENSP00000424827:p.Ser1030Phe					NEDD4_ENST00000506154.1_Missense_Mutation_p.S1014F|NEDD4_ENST00000338963.2_Missense_Mutation_p.S958F|NEDD4_ENST00000435532.3_Missense_Mutation_p.S611F	p.S1030F			P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	15	3388	-			1030			HECT.		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37	c.3089C>T		.	.	.	.	.	.	.	.	.	.	G	29.5	5.009195	0.93346	.	.	ENSG00000069869	ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	6.07	6.07	0.98685	HECT (4);	0.000000	0.85682	D	0.000000	T	0.72455	0.3462	M	0.89030	3	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;1.0	T	0.76091	-0.3086	10	0.87932	D	0	.	19.6475	0.95784	0.0:0.0:1.0:0.0	.	1014;611;1030;958	P46934-2;P46934-4;P46934;P46934-3	.;.;NEDD4_HUMAN;.	F	1030;611;958;1014	ENSP00000424827:S1030F;ENSP00000410613:S611F;ENSP00000345530:S958F;ENSP00000422705:S1014F	ENSP00000345530:S958F	S	-	2	0	NEDD4	53921430	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.793000	0.99091	2.885000	0.99019	0.655000	0.94253	TCT		0.403	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		28	28	0	0	0	0.125774	0	28	28				
ATP7A	538	broad.mit.edu	37	X	77245124	77245124	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chrX:77245124G>A	ENST00000341514.6	+	4	1161	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.E336K	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	336	HMA 3. {ECO:0000255|PROSITE- ProRule:PRU00280}.			E -> V (in Ref. 1; AAA35580 and 8; AAA96010). {ECO:0000305}.	blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AAAAGCAATAGAGGCTGTATC	0.418																																						ENST00000341514.6																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						c.(1006-1008)Gag>Aag		ATPase, Cu++ transporting, alpha polypeptide							160.0	157.0	158.0					X																	77245124		2203	4296	6499	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77245124G>A	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.1006G>A	X.37:g.77245124G>A	ENSP00000345728:p.Glu336Lys					ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.E336K	p.E336K	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN			4	1161	+			336	E -> V (in Ref. 1; AAA35580 and 8; AAA96010).		HMA 3.		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.1006G>A	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249489	0.80024	.	.	ENSG00000165240	ENST00000343533;ENST00000341514;ENST00000355691	D;D	0.88586	-2.4;-2.4	5.67	5.67	0.87782	Heavy metal-associated domain, HMA (3);Heavy metal-associated domain, copper ion-binding (1);	0.000000	0.85682	D	0.000000	D	0.95465	0.8527	M	0.88241	2.94	0.80722	D	1	D;P	0.76494	0.999;0.954	D;D	0.75020	0.985;0.909	D	0.95953	0.8956	10	0.72032	D	0.01	-4.6296	18.7896	0.91968	0.0:0.0:1.0:0.0	.	336;346	Q04656;Q59HD1	ATP7A_HUMAN;.	K	336;336;346	ENSP00000343026:E336K;ENSP00000345728:E336K	ENSP00000345728:E336K	E	+	1	0	ATP7A	77131780	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	9.543000	0.98089	2.384000	0.81235	0.594000	0.82650	GAG		0.418	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		78	131	0	0	0	0.139131	0	78	131				
PCSK5	5125	broad.mit.edu	37	9	78848501	78848501	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr9:78848501C>A	ENST00000545128.1	+	22	3393	c.2855C>A	c.(2854-2856)tCc>tAc	p.S952Y		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	952	CRM (Cys-rich motif).				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CACTGCACCTCCTGTGGAGCA	0.532																																						ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(2854-2856)tCc>tAc		proprotein convertase subtilisin/kexin type 5							127.0	110.0	115.0					9																	78848501		876	1991	2867	SO:0001583	missense	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78848501C>A		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.2855C>A	9.37:g.78848501C>A	ENSP00000446280:p.Ser952Tyr						p.S952Y	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			22	3393	+			655					F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.2855C>A	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.212106	0.39102	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000424854	T;T	0.33654	1.4;1.4	5.93	4.09	0.47781	.	0.400803	0.28718	N	0.014378	T	0.65984	0.2744	H	0.95004	3.61	0.40512	D	0.980748	.	.	.	.	.	.	T	0.73845	-0.3854	8	0.54805	T	0.06	-10.3732	11.9186	0.52779	0.0:0.8566:0.0:0.1434	.	.	.	.	Y	952;655;625	ENSP00000446280:S952Y;ENSP00000411654:S625Y	ENSP00000365945:S655Y	S	+	2	0	PCSK5	78038321	0.479000	0.25925	0.916000	0.36221	0.261000	0.26267	1.269000	0.33074	0.847000	0.35167	0.655000	0.94253	TCC		0.532	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				11	54	1	0	3.07112e-06	0.080935	3.37823e-06	11	54				
HUWE1	10075	broad.mit.edu	37	X	53613475	53613475	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chrX:53613475G>C	ENST00000342160.3	-	38	5256	c.4799C>G	c.(4798-4800)tCa>tGa	p.S1600*	HUWE1_ENST00000262854.6_Nonsense_Mutation_p.S1600*|HUWE1_ENST00000218328.8_Nonsense_Mutation_p.S1600*			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1600					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCTCCTTTTTGAGGAGATGGC	0.423																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(4798-4800)tCa>tGa		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							86.0	74.0	78.0					X																	53613475		2203	4300	6503	SO:0001587	stop_gained	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53613475G>C	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.4799C>G	X.37:g.53613475G>C	ENSP00000340648:p.Ser1600*					HUWE1_ENST00000262854.6_Nonsense_Mutation_p.S1600*|HUWE1_ENST00000218328.8_Nonsense_Mutation_p.S1600*	p.S1600*			Q7Z6Z7	HUWE1_HUMAN			38	5256	-			1600					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Nonsense_Mutation	SNP	ENST00000342160.3	37	c.4799C>G	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	G	48	13.898091	0.99769	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	.	.	.	4.91	4.91	0.64330	.	0.184414	0.36374	N	0.002635	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	16.0026	0.80306	0.0:0.0:1.0:0.0	.	.	.	.	X	1600	.	ENSP00000218328:S1600X	S	-	2	0	HUWE1	53630200	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.219000	0.95173	2.025000	0.59659	0.600000	0.82982	TCA		0.423	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		3	14	0	0	0	0.115264	0	3	14				
CHD2	1106	broad.mit.edu	37	15	93563370	93563370	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr15:93563370C>T	ENST00000394196.4	+	38	6103	c.5035C>T	c.(5035-5037)Cga>Tga	p.R1679*	CHD2_ENST00000557381.1_Nonsense_Mutation_p.R1679*	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1679					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TGGGGACCGGCGACATATGGA	0.547																																						ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(5035-5037)Cga>Tga		chromodomain helicase DNA binding protein 2							137.0	104.0	115.0					15																	93563370		2197	4298	6495	SO:0001587	stop_gained	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93563370C>T	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.5035C>T	15.37:g.93563370C>T	ENSP00000377747:p.Arg1679*					CHD2_ENST00000557381.1_Nonsense_Mutation_p.R1679*	p.R1679*	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		38	6103	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1679					C6G482|Q96IP5	Nonsense_Mutation	SNP	ENST00000394196.4	37	c.5035C>T	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	C	49	16.055988	0.99853	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	.	.	.	5.47	4.53	0.55603	.	0.000000	0.28077	U	0.016687	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.6197	13.0398	0.58893	0.3023:0.6977:0.0:0.0	.	.	.	.	X	1679	.	ENSP00000377747:R1679X	R	+	1	2	CHD2	91364374	1.000000	0.71417	0.988000	0.46212	0.997000	0.91878	3.489000	0.53237	1.249000	0.43950	0.561000	0.74099	CGA		0.547	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		12	17	0	0	0	0.105934	0	12	17				
LILRA2	11027	broad.mit.edu	37	19	55087311	55087311	+	Silent	SNP	G	G	T	rs146068077	byFrequency	TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr19:55087311G>T	ENST00000251377.3	+	7	1123	c.990G>T	c.(988-990)ccG>ccT	p.P330P	LILRA2_ENST00000251376.3_Silent_p.P330P|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Silent_p.P318P|LILRA2_ENST00000391738.3_Silent_p.P330P|LILRB1_ENST00000448689.1_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	330	Ig-like C2-type 4.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CGGTGCAGCCGGTCCCCACAG	0.607																																						ENST00000251377.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(988-990)ccG>ccT		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							59.0	53.0	55.0					19																	55087311		2203	4300	6503	SO:0001819	synonymous_variant	11027							g.chr19:55087311G>T	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.990G>T	19.37:g.55087311G>T						LILRA2_ENST00000391737.1_Silent_p.P318P|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Silent_p.P330P|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Silent_p.P330P|LILRB1_ENST00000418536.2_Intron	p.P330P						GBM - Glioblastoma multiforme(193;0.0963)	7	1123	+								O75020	Silent	SNP	ENST00000251377.3	37	c.990G>T	CCDS46179.1																																																																																				0.607	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			11	23	1	0	0.00010058	0.093190	0.000107069	11	23				
LRP1B	53353	broad.mit.edu	37	2	140992441	140992441	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:140992441C>T	ENST00000389484.3	-	90	14544	c.13573G>A	c.(13573-13575)Ggg>Agg	p.G4525R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4525					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)		ggtcctccccctatgtacctg	0.383										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.(13573-13575)Ggg>Agg		low density lipoprotein receptor-related protein 1B							96.0	96.0	96.0					2																	140992441		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:140992441C>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.13573G>A	2.37:g.140992441C>T	ENSP00000374135:p.Gly4525Arg	TSP Lung(27;0.18)					p.G4525R	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)	90	14544	-		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)	4525					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.13573G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717363	0.68844	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.89552	-2.53	5.24	5.24	0.73138	.	0.463445	0.19713	N	0.107762	D	0.91831	0.7415	L	0.44542	1.39	0.27935	N	0.937722	D	0.89917	1.0	D	0.83275	0.996	D	0.85980	0.1482	10	0.52906	T	0.07	.	14.511	0.67787	0.0:1.0:0.0:0.0	.	4525	Q9NZR2	LRP1B_HUMAN	R	4525;4463	ENSP00000374135:G4525R	ENSP00000374135:G4525R	G	-	1	0	LRP1B	140708911	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	3.574000	0.53863	2.880000	0.98712	0.650000	0.86243	GGG		0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		6	29	0	0	0	0.217242	0	6	29				
CXorf67	340602	broad.mit.edu	37	X	51150988	51150988	+	Missense_Mutation	SNP	A	A	G	rs375824084		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chrX:51150988A>G	ENST00000342995.2	+	1	1222	c.1120A>G	c.(1120-1122)Act>Gct	p.T374A				Q86X51	CX067_HUMAN	chromosome X open reading frame 67	374	Ser-rich.									breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						TTCCTGTGGGACTGGCTCAGA	0.607																																						ENST00000342995.2																			0				breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						c.(1120-1122)Act>Gct		chromosome X open reading frame 67				0,3835		0,0,0,1632,571	59.0	47.0	51.0			-2.0	0.0	X		51	1,6727		0,0,1,2428,1871	no	intergenic				0,0,1,4060,2442	GG,GA,G,AA,A		0.0149,0.0,0.0095			51150988	1,10562	2203	4300	6503	SO:0001583	missense	340602							g.chrX:51150988A>G	BC046248		Xp11.22	2014-04-30			ENSG00000187690	ENSG00000187690			33738	protein-coding gene	gene with protein product						23959973	Standard	XR_113306		Approved			Q86X51	OTTHUMG00000187481	ENST00000342995.2:c.1120A>G	X.37:g.51150988A>G	ENSP00000342680:p.Thr374Ala						p.T374A							1	1222	+									Missense_Mutation	SNP	ENST00000342995.2	37	c.1120A>G		.	.	.	.	.	.	.	.	.	.	a	1.145	-0.648448	0.03506	0.0	1.49E-4	ENSG00000187690	ENST00000342995	T	0.40476	1.03	3.23	-2.03	0.07365	.	8.688640	0.00166	N	0.000001	T	0.18299	0.0439	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31752	-0.9932	9	0.02654	T	1	3.6347	6.9664	0.24625	0.1299:0.0:0.5645:0.3056	.	374	Q86X51	CX067_HUMAN	A	374	ENSP00000342680:T374A	ENSP00000342680:T374A	T	+	1	0	CXorf67	51167728	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.451000	0.02387	-0.567000	0.06046	-1.234000	0.01563	ACT		0.607	CXorf67-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_203407		8	31	0	0	0	0.038147	0	8	31				
TOP3B	8940	broad.mit.edu	37	22	22316888	22316888	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr22:22316888C>T	ENST00000398793.2	-	13	1872	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	TOP3B_ENST00000357179.5_Missense_Mutation_p.E480K|TOP3B_ENST00000413067.2_Missense_Mutation_p.E209K	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	480					chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		ATCTTCACCTCGCCCACAGGG	0.637																																						ENST00000398793.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26						c.(1438-1440)Gag>Aag		topoisomerase (DNA) III beta							76.0	66.0	69.0					22																	22316888		2203	4300	6503	SO:0001583	missense	8940				DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding	g.chr22:22316888C>T	AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.1438G>A	22.37:g.22316888C>T	ENSP00000381773:p.Glu480Lys					TOP3B_ENST00000357179.5_Missense_Mutation_p.E480K|TOP3B_ENST00000413067.2_Missense_Mutation_p.E209K	p.E480K	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	13	1872	-	Colorectal(54;0.105)		480					A0M8Q3|Q9BUP5	Missense_Mutation	SNP	ENST00000398793.2	37	c.1438G>A	CCDS13797.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.247176	0.39697	.	.	ENSG00000100038	ENST00000357179;ENST00000398793;ENST00000413067	T;T;T	0.21361	2.01;2.01;2.01	5.12	5.12	0.69794	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.15003	0.0362	N	0.17674	0.51	0.80722	D	1	B;B;B	0.28291	0.051;0.206;0.068	B;B;B	0.22386	0.022;0.039;0.013	T	0.08166	-1.0735	10	0.19590	T	0.45	.	18.5601	0.91097	0.0:1.0:0.0:0.0	.	25;480;480	B3KU89;O95985;O95985-2	.;TOP3B_HUMAN;.	K	480;480;209	ENSP00000349705:E480K;ENSP00000381773:E480K;ENSP00000393118:E209K	ENSP00000349705:E480K	E	-	1	0	TOP3B	20646888	1.000000	0.71417	0.788000	0.31933	0.208000	0.24298	7.446000	0.80609	2.368000	0.80403	0.563000	0.77884	GAG		0.637	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320251.1	NM_003935		15	32	0	0	0	0.119110	0	15	32				
SYNJ2	8871	broad.mit.edu	37	6	158449945	158449945	+	Silent	SNP	C	C	G			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr6:158449945C>G	ENST00000355585.4	+	3	447	c.372C>G	c.(370-372)ctC>ctG	p.L124L	SYNJ2_ENST00000449859.2_Silent_p.L73L|SYNJ2_ENST00000367121.3_Silent_p.L124L|SYNJ2_ENST00000367122.2_Silent_p.L124L	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	124	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AGAAAATCCTCAGCTCGGGGG	0.512																																						ENST00000355585.4																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(370-372)ctC>ctG		synaptojanin 2							68.0	69.0	69.0					6																	158449945		2203	4300	6503	SO:0001819	synonymous_variant	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158449945C>G	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.372C>G	6.37:g.158449945C>G						SYNJ2_ENST00000367121.3_Silent_p.L124L|SYNJ2_ENST00000449859.2_Silent_p.L73L|SYNJ2_ENST00000367122.2_Silent_p.L124L	p.L124L	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	3	447	+			124			SAC.		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Silent	SNP	ENST00000355585.4	37	c.372C>G	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	C	2.406	-0.336432	0.05278	.	.	ENSG00000078269	ENST00000367113	.	.	.	4.87	1.85	0.25348	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4197	0.55514	0.1086:0.4195:0.472:0.0	.	.	.	.	X	99	.	.	S	+	2	0	SYNJ2	158369933	0.994000	0.37717	0.988000	0.46212	0.220000	0.24768	0.237000	0.17985	0.890000	0.36211	0.533000	0.62120	TCA		0.512	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			12	29	0	0	0	0.080935	0	12	29				
TMEM176B	28959	broad.mit.edu	37	7	150490279	150490279	+	Missense_Mutation	SNP	C	C	T	rs144557912		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr7:150490279C>T	ENST00000447204.2	-	5	869	c.497G>A	c.(496-498)cGc>cAc	p.R166H	TMEM176B_ENST00000492607.1_Missense_Mutation_p.R166H|TMEM176B_ENST00000434545.1_Missense_Mutation_p.R166H|TMEM176B_ENST00000429904.2_Missense_Mutation_p.R166H|TMEM176B_ENST00000326442.5_Missense_Mutation_p.R166H|TMEM176B_ENST00000450753.2_Missense_Mutation_p.R129H	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	166					cell differentiation (GO:0030154)|negative regulation of dendritic cell differentiation (GO:2001199)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGGTCTGAGCGATCACACAC	0.507																																						ENST00000447204.2																			0				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19						c.(496-498)cGc>cAc		transmembrane protein 176B		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	161.0	133.0	142.0		497,497,386,497	-7.0	0.0	7	dbSNP_134	142	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense	TMEM176B	NM_001101311.1,NM_001101312.1,NM_001101314.1,NM_014020.3	29,29,29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign,benign	166/271,166/271,129/234,166/271	150490279	2,13004	2203	4300	6503	SO:0001583	missense	28959				cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane		g.chr7:150490279C>T	AF115384	CCDS5908.1, CCDS47746.1	7q36.1	2006-09-04			ENSG00000106565	ENSG00000106565			29596	protein-coding gene	gene with protein product		610385				9922225	Standard	NM_014020		Approved	LR8	uc003whu.4	Q3YBM2	OTTHUMG00000157577	ENST00000447204.2:c.497G>A	7.37:g.150490279C>T	ENSP00000410269:p.Arg166His					TMEM176B_ENST00000434545.1_Missense_Mutation_p.R166H|TMEM176B_ENST00000429904.2_Missense_Mutation_p.R166H|TMEM176B_ENST00000326442.5_Missense_Mutation_p.R166H|TMEM176B_ENST00000492607.1_Missense_Mutation_p.R166H|TMEM176B_ENST00000450753.2_Missense_Mutation_p.R129H	p.R166H	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	869	-			166					B2RDK2|D3DWZ7|E9PAV4|Q5BJI2|Q9BT42|Q9Y609	Missense_Mutation	SNP	ENST00000447204.2	37	c.497G>A	CCDS5908.1	.	.	.	.	.	.	.	.	.	.	C	1.179	-0.638743	0.03557	0.0	2.33E-4	ENSG00000106565	ENST00000492607;ENST00000326442;ENST00000447204;ENST00000434545;ENST00000429904;ENST00000450753;ENST00000528038	T;T;T;T;T;T	0.09163	3.17;3.17;3.17;3.17;3.17;3.01	3.49	-6.97	0.01616	.	4.208090	0.00597	N	0.000369	T	0.05777	0.0151	N	0.19112	0.55	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.31223	-0.9951	10	0.15066	T	0.55	9.0868	4.4073	0.11416	0.0954:0.3083:0.4169:0.1794	.	129;166	E9PAV4;Q3YBM2	.;T176B_HUMAN	H	166;166;166;166;166;129;166	ENSP00000419258:R166H;ENSP00000318409:R166H;ENSP00000410269:R166H;ENSP00000413531:R166H;ENSP00000397810:R166H;ENSP00000404831:R129H	ENSP00000318409:R166H	R	-	2	0	TMEM176B	150121212	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.707000	0.01893	-2.853000	0.00330	-1.694000	0.00725	CGC		0.507	TMEM176B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349204.1	NM_014020		11	48	0	0	0	0.069234	0	11	48				
BCORL1	63035	broad.mit.edu	37	X	129149172	129149172	+	Silent	SNP	G	G	A	rs138691600	byFrequency	TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chrX:129149172G>A	ENST00000218147.7	+	4	2621	c.2424G>A	c.(2422-2424)acG>acA	p.T808T	BCORL1_ENST00000540052.1_Silent_p.T808T|BCORL1_ENST00000303743.5_Silent_p.T808T|BCORL1_ENST00000359304.2_Silent_p.T808T			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	808					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.T808T(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GGAAACCCACGGGGCCGGCAA	0.587													g|||	1	0.000264901	0.0	0.0	3775	,	,		13008	0.001		0.0	False		,,,				2504	0.0					ENST00000540052.1																			1	Substitution - coding silent(1)	p.T808T(1)	large_intestine(1)	breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(2422-2424)acG>acA		BCL6 corepressor-like 1				4,3831		0,4,1628,571	48.0	52.0	50.0		2424	-10.1	0.2	X	dbSNP_134	50	1,6727		0,1,2427,1872	no	coding-synonymous	BCORL1	NM_021946.4		0,5,4055,2443	AA,AG,GG,G		0.0149,0.1043,0.0473		808/1712	129149172	5,10558	2203	4300	6503	SO:0001819	synonymous_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129149172G>A	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.2424G>A	X.37:g.129149172G>A						BCORL1_ENST00000218147.7_Silent_p.T808T|BCORL1_ENST00000359304.2_Silent_p.T808T|BCORL1_ENST00000303743.5_Silent_p.T808T	p.T808T	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			3	2468	+			808					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Silent	SNP	ENST00000218147.7	37	c.2424G>A	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	g	3.461	-0.109973	0.06924	0.001043	1.49E-4	ENSG00000085185	ENST00000441294	.	.	.	5.05	-10.1	0.00402	.	.	.	.	.	T	0.25344	0.0616	.	.	.	0.34683	D	0.724941	.	.	.	.	.	.	T	0.25117	-1.0141	4	.	.	.	-0.8613	1.0064	0.01488	0.4458:0.1733:0.2075:0.1733	.	.	.	.	R	244	.	.	G	+	1	0	BCORL1	128976853	0.009000	0.17119	0.221000	0.23827	0.990000	0.78478	-1.000000	0.03693	-1.750000	0.01328	0.431000	0.28591	GGG		0.587	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		9	71	0	0	0	0.047766	0	9	71				
TADA3	10474	broad.mit.edu	37	3	9822068	9822068	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr3:9822068C>G	ENST00000301964.2	-	9	1830	c.1272G>C	c.(1270-1272)gaG>gaC	p.E424D	TADA3_ENST00000440161.1_Missense_Mutation_p.E424D	NM_006354.2	NP_006345.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	424					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|intracellular estrogen receptor signaling pathway (GO:0030520)|mitotic nuclear division (GO:0007067)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of histone deacetylation (GO:0031063)|regulation of protein phosphorylation (GO:0001932)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of tubulin deacetylation (GO:0090043)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|intracellular (GO:0005622)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						TCAGGATGCTCTCACGCTCCT	0.587																																						ENST00000301964.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						c.(1270-1272)gaG>gaC		transcriptional adaptor 3							120.0	109.0	112.0					3																	9822068		2203	4300	6503	SO:0001583	missense	10474				estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr3:9822068C>G	AF069733	CCDS2583.1, CCDS2584.1	3p25.3	2010-08-13	2009-10-02	2009-10-02	ENSG00000171148	ENSG00000171148			19422	protein-coding gene	gene with protein product		602945	"""transcriptional adaptor 3 (NGG1 homolog, yeast)-like"""	TADA3L		9674425, 11707411	Standard	NM_006354		Approved	FLJ20221, FLJ21329, ADA3, hADA3, NGG1	uc010hcn.2	O75528	OTTHUMG00000128440	ENST00000301964.2:c.1272G>C	3.37:g.9822068C>G	ENSP00000307684:p.Glu424Asp					TADA3_ENST00000440161.1_Missense_Mutation_p.E424D	p.E424D	NM_006354.2	NP_006345.1	O75528	TADA3_HUMAN			9	1830	-			424					Q6FI83|Q9UFS2	Missense_Mutation	SNP	ENST00000301964.2	37	c.1272G>C	CCDS2583.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069627	0.36470	.	.	ENSG00000171148	ENST00000301964;ENST00000440161	.	.	.	5.45	2.66	0.31614	.	0.000000	0.85682	D	0.000000	T	0.42810	0.1219	L	0.35414	1.06	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.14023	0.007;0.01	T	0.22208	-1.0223	9	0.34782	T	0.22	5.6534	9.1436	0.36919	0.0:0.7712:0.0:0.2288	.	424;424	O75528;A8K899	TADA3_HUMAN;.	D	424	.	ENSP00000307684:E424D	E	-	3	2	TADA3	9797068	1.000000	0.71417	0.994000	0.49952	0.984000	0.73092	1.676000	0.37565	0.656000	0.30886	-0.136000	0.14681	GAG		0.587	TADA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250236.1			9	30	0	0	0	0.069234	0	9	30				
MAN1B1	11253	broad.mit.edu	37	9	139994165	139994165	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr9:139994165C>T	ENST00000371589.4	+	6	821	c.748C>T	c.(748-750)Cag>Tag	p.Q250*	MAN1B1_ENST00000474902.1_5'UTR	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	250					cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		GAACTATCGCCAGAAGGGCGT	0.582																																						ENST00000371589.4																			0				autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14						c.(748-750)Cag>Tag		mannosidase, alpha, class 1B, member 1							220.0	166.0	184.0					9																	139994165		2203	4300	6503	SO:0001587	stop_gained	11253				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr9:139994165C>T	AF145732	CCDS7029.1	9q34.3	2014-05-27			ENSG00000177239	ENSG00000177239			6823	protein-coding gene	gene with protein product	"""endoplasmic reticulum alpha-mannosidase 1"", ""alpha 1,2-mannosidase"", ""endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1"", ""ER alpha 1,2-mannosidase"", ""Man9GlcNAc2-specific processing alpha-mannosidase"""	604346				10409699, 10521544	Standard	NM_016219		Approved	MANA-ER, MRT15	uc004cld.3	Q9UKM7	OTTHUMG00000020978	ENST00000371589.4:c.748C>T	9.37:g.139994165C>T	ENSP00000360645:p.Gln250*					MAN1B1_ENST00000474902.1_5'UTR	p.Q250*	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)	6	821	+	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	250					Q5VSG3|Q9BRS9|Q9Y5K7	Nonsense_Mutation	SNP	ENST00000371589.4	37	c.748C>T	CCDS7029.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.9|24.9	4.577174|4.577174	0.86645|0.86645	.|.	.|.	ENSG00000177239|ENSG00000177239	ENST00000535144|ENST00000371589	.|.	.|.	.|.	4.69|4.69	4.69|4.69	0.59074|0.59074	.|.	.|0.093697	.|0.44902	.|U	.|0.000412	T|.	0.71796|.	0.3382|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.71692|.	-0.4516|.	4|.	.|.	.|.	.|.	-22.0165|-22.0165	16.5887|16.5887	0.84759|0.84759	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	L|X	223|250	.|.	.|.	P|Q	+|+	2|1	0|0	MAN1B1|MAN1B1	139113986|139113986	1.000000|1.000000	0.71417|0.71417	0.864000|0.864000	0.33941|0.33941	0.071000|0.071000	0.16799|0.16799	5.400000|5.400000	0.66320|0.66320	2.172000|2.172000	0.68678|0.68678	0.491000|0.491000	0.48974|0.48974	CCA|CAG		0.582	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055294.2	NM_016219		50	49	0	0	0	0.139131	0	50	49				
DPCR1	135656	broad.mit.edu	37	6	30919701	30919701	+	Silent	SNP	T	T	C	rs2517449	byFrequency	TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr6:30919701T>C	ENST00000462446.1	+	2	3488	c.3460T>C	c.(3460-3462)Ttg>Ctg	p.L1154L	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_5'UTR			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	311						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						AAGGACCACATTGGCCCATGA	0.473													T|||	1177	0.235024	0.0983	0.2133	5008	,	,		21802	0.2688		0.3579	False		,,,				2504	0.274					ENST00000462446.1																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						c.(3460-3462)Ttg>Ctg		diffuse panbronchiolitis critical region 1		T		623,3783	268.9+/-268.7	42,539,1622	125.0	126.0	126.0		3460	-2.2	0.0	6	dbSNP_100	126	3225,5375	487.8+/-372.2	588,2049,1663	yes	coding-synonymous	DPCR1	NM_080870.3		630,2588,3285	CC,CT,TT		37.5,14.1398,29.5863		1154/1394	30919701	3848,9158	2203	4300	6503	SO:0001819	synonymous_variant	135656					integral to membrane		g.chr6:30919701T>C	AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.3460T>C	6.37:g.30919701T>C						HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_5'UTR	p.L1154L			Q3MIW9	DPCR1_HUMAN			2	3488	+			293					C9IZC0|Q658M7|Q8WYN2	Silent	SNP	ENST00000462446.1	37	c.3460T>C	CCDS4692.2																																																																																				0.473	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076173.3	NM_080870		3	18	0	0	0	0.115264	0	3	18				
MUC16	94025	broad.mit.edu	37	19	9009703	9009703	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr19:9009703G>T	ENST00000397910.4	-	39	39226	c.39023C>A	c.(39022-39024)cCt>cAt	p.P13008H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13010					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CACCAGGAGAGGAACAGCTGC	0.453																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(39022-39024)cCt>cAt		mucin 16, cell surface associated							154.0	125.0	134.0					19																	9009703		1950	4132	6082	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9009703G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39023C>A	19.37:g.9009703G>T	ENSP00000381008:p.Pro13008His						p.P13008H	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			39	39226	-			13010					Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.39023C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	10.66	1.412473	0.25465	.	.	ENSG00000181143	ENST00000397910;ENST00000441155	T	0.34072	1.38	2.91	2.91	0.33838	.	.	.	.	.	T	0.61527	0.2354	M	0.87547	2.89	.	.	.	D	0.89917	1.0	D	0.87578	0.998	T	0.74087	-0.3778	8	0.87932	D	0	-0.5502	9.9218	0.41468	0.0:0.0:1.0:0.0	.	13008	B5ME49	.	H	13008;161	ENSP00000381008:P13008H	ENSP00000381008:P13008H	P	-	2	0	MUC16	8870703	0.035000	0.19736	0.008000	0.14137	0.033000	0.12548	1.451000	0.35145	1.572000	0.49736	0.305000	0.20034	CCT		0.453	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	59	1	0	5.9392e-07	0.217242	6.66645e-07	5	59				
WDR88	126248	broad.mit.edu	37	19	33623312	33623312	+	Silent	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr19:33623312G>A	ENST00000355868.3	+	1	313	c.237G>A	c.(235-237)ccG>ccA	p.P79P	WDR88_ENST00000361680.2_Silent_p.P79P|WDR88_ENST00000592765.1_Silent_p.P79P	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	79										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					ACCAGGTGCCGGAGAAATTGA	0.657																																						ENST00000361680.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25						c.(235-237)ccG>ccA		WD repeat domain 88							60.0	61.0	61.0					19																	33623312		2203	4300	6503	SO:0001819	synonymous_variant	126248							g.chr19:33623312G>A	BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359		"""WD repeat domain containing"""	26999	protein-coding gene	gene with protein product			"""PQQ repeat and WD repeat domain containing"""	PQWD		12477932	Standard	NM_173479		Approved		uc002nui.3	Q6ZMY6		ENST00000355868.3:c.237G>A	19.37:g.33623312G>A						WDR88_ENST00000592765.1_Silent_p.P79P|WDR88_ENST00000355868.3_Silent_p.P79P	p.P79P			Q6ZMY6	WDR88_HUMAN			1	315	+	Esophageal squamous(110;0.137)		79					Q8NEF8	Silent	SNP	ENST00000355868.3	37	c.237G>A	CCDS12429.1																																																																																				0.657	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450840.1	NM_173479		12	43	0	0	0	0.080935	0	12	43				
AQP6	363	broad.mit.edu	37	12	50369453	50369453	+	Silent	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr12:50369453G>A	ENST00000315520.5	+	4	1185	c.848G>A	c.(847-849)tGa>tAa	p.*283*	AQP6_ENST00000551733.1_Silent_p.*109*	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	0					anion transport (GO:0006820)|excretion (GO:0007588)|odontogenesis (GO:0042476)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	integral component of plasma membrane (GO:0005887)|transport vesicle membrane (GO:0030658)	anion channel activity (GO:0005253)|water channel activity (GO:0015250)	p.*283S(1)		endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						GAGAGTGTGTGAAACAGCCTA	0.672																																						ENST00000315520.5																			1	Nonstop extension(1)	p.*283S(1)	lung(1)	endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						c.(847-849)tGa>tAa		aquaporin 6, kidney specific							18.0	21.0	20.0					12																	50369453		2198	4292	6490	SO:0001819	synonymous_variant	363				excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity	g.chr12:50369453G>A	AL137716	CCDS31798.1	12q13	2005-09-20			ENSG00000086159	ENSG00000086159		"""Ion channels / Aquaporins"""	639	protein-coding gene	gene with protein product		601383		AQP2L		8812490	Standard	XM_006719375		Approved		uc001rvr.1	Q13520	OTTHUMG00000133548	ENST00000315520.5:c.848G>A	12.37:g.50369453G>A						AQP6_ENST00000551733.1_Silent_p.*109*	p.*283*	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN			4	1185	+			0						Silent	SNP	ENST00000315520.5	37	c.848G>A	CCDS31798.1																																																																																				0.672	AQP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257528.2	NM_001652, NM_053286		4	12	0	0	0	0.150653	0	4	12				
ERBB2	2064	broad.mit.edu	37	17	37883113	37883113	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr17:37883113C>T	ENST00000269571.5	+	25	3175	c.3016C>T	c.(3016-3018)Cgc>Tgc	p.R1006C	ERBB2_ENST00000445658.2_Missense_Mutation_p.R730C|ERBB2_ENST00000406381.2_Missense_Mutation_p.R976C|ERBB2_ENST00000584601.1_Missense_Mutation_p.R976C|ERBB2_ENST00000541774.1_Missense_Mutation_p.R991C|ERBB2_ENST00000540147.1_Missense_Mutation_p.R976C|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000584450.1_Missense_Mutation_p.R1006C|MIEN1_ENST00000474210.1_5'Flank			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1006					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CACCTTCTACCGCTCACTGCT	0.637		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												ENST00000406381.2		1		Dom	yes		17	17q21.1	2064	"""A, Mis, O"""	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			"""breast, ovarian, other tumour types, NSCLC, gastric"""		0				NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247						c.(2926-2928)Cgc>Tgc		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						99.0	99.0	99.0					17																	37883113		2203	4300	6503	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37883113C>T	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.3016C>T	17.37:g.37883113C>T	ENSP00000269571:p.Arg1006Cys	TCGA GBM(5;<1E-08)				ERBB2_ENST00000584450.1_Missense_Mutation_p.R1006C|ERBB2_ENST00000541774.1_Missense_Mutation_p.R991C|ERBB2_ENST00000540147.1_Missense_Mutation_p.R976C|ERBB2_ENST00000445658.2_Missense_Mutation_p.R730C|ERBB2_ENST00000269571.5_Missense_Mutation_p.R1006C|ERBB2_ENST00000584601.1_Missense_Mutation_p.R976C	p.R976C	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	27	3436	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	1006			Protein kinase.		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.2926C>T	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.152781	0.38021	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.78003	-1.13;-1.14;-1.12;-1.14;-1.13	5.63	3.53	0.40419	Protein kinase-like domain (1);	.	.	.	.	T	0.81692	0.4876	M	0.76170	2.325	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	P;P;P	0.57152	0.7;0.654;0.814	T	0.81826	-0.0754	9	0.87932	D	0	.	5.3459	0.16008	0.1458:0.6343:0.1414:0.0785	.	730;991;1006	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	C	976;991;730;1006;976	ENSP00000385185:R976C;ENSP00000446466:R991C;ENSP00000404047:R730C;ENSP00000269571:R1006C;ENSP00000443562:R976C	ENSP00000269571:R1006C	R	+	1	0	ERBB2	35136639	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.888000	0.39708	1.374000	0.46228	0.655000	0.94253	CGC		0.637	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			14	58	0	0	0	0.132662	0	14	58				
LRP1B	53353	broad.mit.edu	37	2	141359128	141359128	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:141359128T>C	ENST00000389484.3	-	42	7851	c.6880A>G	c.(6880-6882)Acc>Gcc	p.T2294A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2294					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)		GTGTGTCTGGTGATGGATGAG	0.512										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.(6880-6882)Acc>Gcc		low density lipoprotein receptor-related protein 1B							144.0	119.0	128.0					2																	141359128		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141359128T>C	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.6880A>G	2.37:g.141359128T>C	ENSP00000374135:p.Thr2294Ala	TSP Lung(27;0.18)					p.T2294A	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)	42	7851	-		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)	2294					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.6880A>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	18.32	3.598568	0.66332	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90955	-2.76	5.04	5.04	0.67666	Six-bladed beta-propeller, TolB-like (1);	0.202380	0.41294	D	0.000913	D	0.85957	0.5818	L	0.48642	1.525	0.40171	D	0.977171	P	0.37441	0.595	B	0.34931	0.192	D	0.84284	0.0496	10	0.14252	T	0.57	.	15.0609	0.71951	0.0:0.0:0.0:1.0	.	2294	Q9NZR2	LRP1B_HUMAN	A	2294;2232	ENSP00000374135:T2294A	ENSP00000374135:T2294A	T	-	1	0	LRP1B	141075598	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	7.949000	0.87791	2.015000	0.59207	0.459000	0.35465	ACC		0.512	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		9	29	0	0	0	0.047766	0	9	29				
DUOX2	50506	broad.mit.edu	37	15	45388040	45388040	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr15:45388040C>T	ENST00000603300.1	-	30	4268	c.4066G>A	c.(4066-4068)Gct>Act	p.A1356T	DUOX2_ENST00000389039.6_Missense_Mutation_p.A1356T	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1356	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GGGTATCCAGCACAGCCATTG	0.622																																						ENST00000389039.6																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.(4066-4068)Gct>Act		dual oxidase 2							56.0	54.0	55.0					15																	45388040		2198	4298	6496	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45388040C>T	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.4066G>A	15.37:g.45388040C>T	ENSP00000475084:p.Ala1356Thr					DUOX2_ENST00000603300.1_Missense_Mutation_p.A1356T	p.A1356T			Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	30	4451	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1356			FAD-binding FR-type.		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.4066G>A	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	C	9.623	1.134404	0.21123	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.53	2.15	0.27550	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.479528	0.24224	N	0.040407	T	0.14056	0.0340	N	0.11560	0.145	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.20240	-1.0281	9	0.11182	T	0.66	-7.7809	3.2309	0.06747	0.2366:0.495:0.1159:0.1525	.	1356	Q9NRD8	DUOX2_HUMAN	T	1356	.	ENSP00000373691:A1356T	A	-	1	0	DUOX2	43175332	0.219000	0.23619	0.067000	0.19924	0.043000	0.13939	1.269000	0.33074	0.703000	0.31848	0.555000	0.69702	GCT		0.622	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		12	10	0	0	0	0.093190	0	12	10				
TRPM3	80036	broad.mit.edu	37	9	73151732	73151732	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr9:73151732C>A	ENST00000377110.3	-	25	4504	c.4261G>T	c.(4261-4263)Gtg>Ttg	p.V1421L	TRPM3_ENST00000408909.2_Missense_Mutation_p.V1280L|TRPM3_ENST00000396292.4_Missense_Mutation_p.V1293L|TRPM3_ENST00000357533.2_Missense_Mutation_p.V1425L|TRPM3_ENST00000358082.3_Missense_Mutation_p.V1283L|TRPM3_ENST00000396285.1_Missense_Mutation_p.V1280L|TRPM3_ENST00000423814.3_Missense_Mutation_p.V1448L|TRPM3_ENST00000377106.1_Missense_Mutation_p.V1293L|TRPM3_ENST00000377105.1_Missense_Mutation_p.V1280L|TRPM3_ENST00000396280.5_Missense_Mutation_p.V1270L|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000360823.2_Missense_Mutation_p.V1283L			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1446					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AGGATGTTCACGGAATTGTCC	0.502																																						ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(4261-4263)Gtg>Ttg		transient receptor potential cation channel, subfamily M, member 3							114.0	111.0	112.0					9																	73151732		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73151732C>A	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377110.3:c.4261G>T	9.37:g.73151732C>A	ENSP00000366314:p.Val1421Leu					TRPM3_ENST00000357533.2_Missense_Mutation_p.V1425L|TRPM3_ENST00000423814.3_Missense_Mutation_p.V1448L|TRPM3_ENST00000377105.1_Missense_Mutation_p.V1280L|TRPM3_ENST00000377106.1_Missense_Mutation_p.V1293L|TRPM3_ENST00000408909.2_Missense_Mutation_p.V1280L|TRPM3_ENST00000358082.3_Missense_Mutation_p.V1283L|TRPM3_ENST00000396280.5_Missense_Mutation_p.V1270L|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000360823.2_Missense_Mutation_p.V1283L|TRPM3_ENST00000396285.1_Missense_Mutation_p.V1280L|TRPM3_ENST00000396292.4_Missense_Mutation_p.V1293L	p.V1421L	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			25	4504	-			1446					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377110.3	37	c.4261G>T	CCDS43835.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.611|5.611	0.297446|0.297446	0.10622|0.10622	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000396280|ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	.|T;T;T;T;T;T;T;T;T;T	.|0.53857	.|0.69;0.64;0.64;0.6;0.69;0.6;0.64;0.64;0.64;0.69	6.02|6.02	3.63|3.63	0.41609|0.41609	.|.	.|0.325458	.|0.37809	.|N	.|0.001937	T|T	0.28928|0.28928	0.0718|0.0718	N|N	0.08118|0.08118	0|0	0.22253|0.22253	N|N	0.999253|0.999253	.|B;B;B;B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0;0.0;0.0;0.0	.|B;B;B;B;B;B;B	.|0.04013	.|0.001;0.0;0.0;0.0;0.001;0.0;0.0	T|T	0.15037|0.15037	-1.0451|-1.0451	5|10	.|0.26408	.|T	.|0.33	-13.3601|-13.3601	8.8458|8.8458	0.35170|0.35170	0.0:0.0657:0.1279:0.8063|0.0:0.0657:0.1279:0.8063	.|.	.|1421;1411;1425;1283;1280;1393;1280	.|Q9HCF6-2;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.|.;.;.;.;.;.;.	L|L	1269|1421;1293;1283;1280;1425;1280;1280;1293;1283;1448	.|ENSP00000366314:V1421L;ENSP00000366310:V1293L;ENSP00000354066:V1283L;ENSP00000366309:V1280L;ENSP00000350140:V1425L;ENSP00000386127:V1280L;ENSP00000379581:V1280L;ENSP00000379587:V1293L;ENSP00000350791:V1283L;ENSP00000389542:V1448L	.|ENSP00000350140:V1425L	R|V	-|-	2|1	0|0	TRPM3|TRPM3	72341552|72341552	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	1.436000|1.436000	0.34980|0.34980	0.499000|0.499000	0.27970|0.27970	-0.238000|-0.238000	0.12139|0.12139	CGT|GTG		0.502	TRPM3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214158.3	NM_206945		13	55	1	0	2.61681e-11	0.119110	3.0841e-11	13	55				
SART1	9092	broad.mit.edu	37	11	65732031	65732031	+	Silent	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr11:65732031C>T	ENST00000312397.5	+	3	509	c.417C>T	c.(415-417)gcC>gcT	p.A139A	SART1_ENST00000528573.1_3'UTR	NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	139					cell cycle arrest (GO:0007050)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|spliceosomal snRNP assembly (GO:0000387)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						AGGTTAATGCCATCAAGAAGG	0.517																																						ENST00000312397.5																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(415-417)gcC>gcT		squamous cell carcinoma antigen recognized by T cells							75.0	77.0	76.0					11																	65732031		2201	4296	6497	SO:0001819	synonymous_variant	9092				cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol		g.chr11:65732031C>T	AB006198	CCDS31611.1	11q13.1	2009-01-06	2006-12-07		ENSG00000175467	ENSG00000175467			10538	protein-coding gene	gene with protein product	"""small nuclear ribonucleoprotein 110kDa (U4/U6.U5)"""	605941	"""squamous cell carcinoma antigen recognised by T cells"""			9449708	Standard	NM_005146		Approved	Ara1, Snu66, SNRNP110	uc001ogl.3	O43290	OTTHUMG00000166771	ENST00000312397.5:c.417C>T	11.37:g.65732031C>T						SART1_ENST00000528573.1_3'UTR	p.A139A	NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN			3	509	+			139					A6NDN1|Q53GB5	Silent	SNP	ENST00000312397.5	37	c.417C>T	CCDS31611.1																																																																																				0.517	SART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391409.1			5	51	0	0	0	0.029380	0	5	51				
IGHM	3507	broad.mit.edu	37	14	106322248	106322248	+	RNA	SNP	C	C	T	rs372261472	byFrequency	TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr14:106322248C>T	ENST00000390559.2	-	0	75				AL122127.1_ENST00000581354.1_RNA|AL122127.2_ENST00000581918.1_RNA|hsa-mir-4538_ENST00000581318.1_RNA|hsa-mir-4539_ENST00000579784.1_RNA|AL122127.5_ENST00000582202.1_RNA|AL122127.4_ENST00000581720.1_RNA			P01871	IGHM_HUMAN	immunoglobulin heavy constant mu						adaptive immune response (GO:0002250)|antibacterial humoral response (GO:0019731)|defense response to Gram-negative bacterium (GO:0050829)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hexameric IgM immunoglobulin complex (GO:0071757)|integral component of membrane (GO:0016021)|pentameric IgM immunoglobulin complex (GO:0071756)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										AGGCAGCCAACGGCCACGCTG	0.577													.|||	10	0.00199681	0.003	0.0	5008	,	,		12576	0.0		0.0	False		,,,				2504	0.0061					ENST00000390559.2																			0															C		6,4112		0,6,2053	43.0	43.0	43.0			-9.3	0.0	14		43	0,8400		0,0,4200	no	intergenic				0,6,6253	TT,TC,CC		0.0,0.1457,0.0479			106322248	6,12512	2059	4200	6259			3507							g.chr14:106322248C>T	X14940		14q32.33	2012-10-02			ENSG00000211899	ENSG00000211899		"""Immunoglobulins / IGH locus"""	5541	other	immunoglobulin gene		147020				2115996	Standard	NG_001019		Approved			P01871	OTTHUMG00000152452		14.37:g.106322248C>T														0	75	-								P20769	RNA	SNP	ENST00000390559.2	37																																																																																						0.577	IGHM-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326272.1	NG_001019		7	9	0	0	0	0.029380	0	7	9				
CES1	1066	broad.mit.edu	37	16	55860122	55860122	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr16:55860122C>T	ENST00000361503.4	-	3	473	c.343G>A	c.(343-345)Gac>Aac	p.D115N	CES1_ENST00000360526.3_Missense_Mutation_p.D116N|CES1_ENST00000422046.2_Missense_Mutation_p.D115N|CES1_ENST00000566555.1_5'UTR			P23141	EST1_HUMAN	carboxylesterase 1	115				D -> H (in Ref. 19; AAA83932). {ECO:0000305}.	epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	TAAAGACAGTCTTCAGAAAGC	0.512																																					NSCLC(162;1801 2756 42904 52896)	ENST00000422046.2																			0											c.(343-345)Gac>Aac		carboxylesterase 1	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)						152.0	178.0	169.0					16																	55860122		2198	4300	6498	SO:0001583	missense	1066				response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55860122C>T	BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"""Carboxylesterases"""	1863	protein-coding gene	gene with protein product	"""human monocyte/macrophage serine esterase 1"""	114835	"""carboxylesterase 1 (monocyte/macrophage serine esterase 1)"""			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.343G>A	16.37:g.55860122C>T	ENSP00000355193:p.Asp115Asn					CES1_ENST00000360526.3_Missense_Mutation_p.D116N|CES1_ENST00000566555.1_5'UTR|CES1_ENST00000361503.4_Missense_Mutation_p.D115N	p.D115N			P23141	EST1_HUMAN		all cancers(182;0.13)|Epithelial(162;0.137)	3	624	-			115	D -> H (in Ref. 19; AAA83932).				A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	ENST00000361503.4	37	c.343G>A	CCDS45488.1	.	.	.	.	.	.	.	.	.	.	.	19.80	3.894082	0.72639	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046	D;D;D	0.86164	-2.08;-2.08;-2.08	4.7	4.7	0.59300	Carboxylesterase type B, conserved site (1);Carboxylesterase, type B (1);	0.000000	0.52532	D	0.000074	D	0.94473	0.8221	M	0.90870	3.155	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.72338	0.977;0.946;0.961	D	0.95653	0.8708	10	0.87932	D	0	.	15.1814	0.72962	0.0:1.0:0.0:0.0	.	115;115;116	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	N	116;115;115	ENSP00000353720:D116N;ENSP00000355193:D115N;ENSP00000390492:D115N	ENSP00000353720:D116N	D	-	1	0	CES1	54417623	1.000000	0.71417	0.999000	0.59377	0.396000	0.30629	6.803000	0.75180	2.196000	0.70406	0.400000	0.26472	GAC		0.512	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266		27	103	0	0	0	0.091800	0	27	103				
ZNF613	79898	broad.mit.edu	37	19	52443551	52443551	+	Silent	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr19:52443551C>T	ENST00000293471.6	+	4	784	c.105C>T	c.(103-105)gaC>gaT	p.D35D	ZNF613_ENST00000391794.4_5'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	35	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		TGTACCGAGACGTGATGTTGG	0.542																																						ENST00000293471.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(103-105)gaC>gaT		zinc finger protein 613							162.0	145.0	151.0					19																	52443551		2203	4300	6503	SO:0001819	synonymous_variant	79898				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52443551C>T	AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.105C>T	19.37:g.52443551C>T						ZNF613_ENST00000391794.4_5'UTR	p.D35D	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)	4	784	+		all_neural(266;0.117)	35			KRAB.		Q96SS9	Silent	SNP	ENST00000293471.6	37	c.105C>T	CCDS33089.1																																																																																				0.542	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	NM_024840		26	102	0	0	0	0.134883	0	26	102				
CELF1	10658	broad.mit.edu	37	11	47504267	47504267	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr11:47504267G>T	ENST00000358597.3	-	6	666	c.667C>A	c.(667-669)Ctt>Att	p.L223I	CELF1_ENST00000395292.2_Missense_Mutation_p.L223I|CELF1_ENST00000395290.2_Missense_Mutation_p.L222I|CELF1_ENST00000532048.1_Missense_Mutation_p.L249I|CELF1_ENST00000361904.3_Missense_Mutation_p.L223I|CELF1_ENST00000531165.1_Missense_Mutation_p.L250I|CELF1_ENST00000310513.5_Missense_Mutation_p.L223I			Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	223					embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of translation (GO:0017148)|positive regulation of multicellular organism growth (GO:0040018)|regulation of RNA splicing (GO:0043484)|RNA interference (GO:0016246)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation repressor activity, nucleic acid binding (GO:0000900)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						TGGGGTCCAAGAGTATTTAGA	0.502																																					Pancreas(163;1949 1966 9906 43218 43785)	ENST00000395290.2																			0				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						c.(664-666)Ctt>Att		CUGBP, Elav-like family member 1							121.0	109.0	113.0					11																	47504267		2201	4298	6499	SO:0001583	missense	10658				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr11:47504267G>T	U63289	CCDS7938.1, CCDS7939.1, CCDS31482.1, CCDS53622.1, CCDS53623.1	11p11	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	2549	protein-coding gene	gene with protein product	"""CUG RNA-binding protein"", ""nuclear polyadenylated RNA-binding protein, 50-kD"", ""bruno-like 2"", ""embryo deadenylation element binding protein"""	601074	"""CUG triplet repeat, RNA-binding protein 1"", ""CUG triplet repeat, RNA binding protein 1"""	CUGBP1		8948631, 9371827	Standard	NM_006560		Approved	CUG-BP, hNab50, BRUNOL2, NAB50, CUGBP, NAPOR, EDEN-BP	uc001nfl.3	Q92879		ENST00000358597.3:c.667C>A	11.37:g.47504267G>T	ENSP00000351409:p.Leu223Ile					CELF1_ENST00000395292.2_Missense_Mutation_p.L223I|CELF1_ENST00000361904.3_Missense_Mutation_p.L223I|CELF1_ENST00000358597.3_Missense_Mutation_p.L223I|CELF1_ENST00000310513.5_Missense_Mutation_p.L223I|CELF1_ENST00000531165.1_Missense_Mutation_p.L250I|CELF1_ENST00000532048.1_Missense_Mutation_p.L249I	p.L222I	NM_001025596.2|NM_001172640.1	NP_001020767.1|NP_001166111.1	Q92879	CELF1_HUMAN			6	673	-			223					B4E2U5|D3DQS0|F8W940|Q4LE52|Q9NP83|Q9NR06	Missense_Mutation	SNP	ENST00000358597.3	37	c.664C>A	CCDS31482.1	.	.	.	.	.	.	.	.	.	.	g	23.2	4.382026	0.82792	.	.	ENSG00000149187	ENST00000395290;ENST00000358597;ENST00000395292;ENST00000310513;ENST00000361904;ENST00000531165;ENST00000532048	T;T;T;T;T;T;T	0.22539	1.97;1.96;2.43;2.39;2.43;1.97;1.95	5.67	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.44582	0.1300	M	0.79475	2.455	0.80722	D	1	D;D;B;B;D;B	0.65815	0.994;0.994;0.154;0.154;0.995;0.096	D;D;B;B;D;B	0.79108	0.992;0.992;0.032;0.032;0.92;0.014	T	0.26849	-1.0091	10	0.44086	T	0.13	-10.1235	11.2202	0.48851	0.1409:0.0:0.8591:0.0	.	222;250;249;223;223;223	F8W940;G5EA30;Q92879-4;Q92879-2;Q92879-3;Q92879	.;.;.;.;.;CELF1_HUMAN	I	222;223;223;223;223;250;249	ENSP00000378705:L222I;ENSP00000351409:L223I;ENSP00000378706:L223I;ENSP00000308386:L223I;ENSP00000354639:L223I;ENSP00000436864:L250I;ENSP00000435926:L249I	ENSP00000308386:L223I	L	-	1	0	CELF1	47460843	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.168000	0.58216	2.661000	0.90470	0.651000	0.88453	CTT		0.502	CELF1-024	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398352.1	NM_006560		10	33	1	0	3.07112e-06	0.080935	3.37823e-06	10	33				
INTS8	55656	broad.mit.edu	37	8	95866050	95866050	+	Silent	SNP	C	C	G			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr8:95866050C>G	ENST00000523731.1	+	14	1792	c.1659C>G	c.(1657-1659)gtC>gtG	p.V553V	INTS8_ENST00000447247.1_Silent_p.V553V|INTS8_ENST00000520845.1_3'UTR	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	553					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					TACCTTCTGTCTATAGTGGTG	0.333																																						ENST00000523731.1																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28						c.(1657-1659)gtC>gtG		integrator complex subunit 8							171.0	177.0	175.0					8																	95866050		2203	4300	6503	SO:0001819	synonymous_variant	55656				snRNA processing	integrator complex	protein binding	g.chr8:95866050C>G	AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"""chromosome 8 open reading frame 52"""	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.1659C>G	8.37:g.95866050C>G						INTS8_ENST00000447247.1_Silent_p.V553V|INTS8_ENST00000520845.1_3'UTR	p.V553V	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN			14	1792	+	Breast(36;1.05e-06)		553					B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Silent	SNP	ENST00000523731.1	37	c.1659C>G	CCDS34925.1	.	.	.	.	.	.	.	.	.	.	C	8.819	0.937134	0.18206	.	.	ENSG00000164941	ENST00000520526	.	.	.	5.72	-7.09	0.01553	.	.	.	.	.	T	0.34978	0.0916	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41034	-0.9531	4	.	.	.	-26.6786	1.8562	0.03179	0.2687:0.0904:0.3471:0.2938	.	.	.	.	C	375	.	.	S	+	2	0	INTS8	95935226	0.767000	0.28508	0.908000	0.35775	0.995000	0.86356	-0.110000	0.10824	-1.105000	0.03011	0.655000	0.94253	TCT		0.333	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1	NM_017864		18	64	0	0	0	0.204396	0	18	64				
ARID1A	8289	broad.mit.edu	37	1	27102150	27102150	+	Silent	SNP	C	C	T	rs149468118	byFrequency	TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr1:27102150C>T	ENST00000324856.7	+	19	5447	c.5076C>T	c.(5074-5076)aaC>aaT	p.N1692N	ARID1A_ENST00000540690.1_Silent_p.N20N|ARID1A_ENST00000457599.2_Silent_p.N1475N|ARID1A_ENST00000374152.2_Silent_p.N1309N	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1692					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ATACCATCAACATCCTGCTGT	0.498			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								C|||	3	0.000599042	0.0023	0.0	5008	,	,		21606	0.0		0.0	False		,,,				2504	0.0					ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(5074-5076)aaC>aaT		AT rich interactive domain 1A (SWI-like)		C	,	5,4401	9.9+/-24.2	0,5,2198	153.0	122.0	133.0		5076,4425	4.3	1.0	1	dbSNP_134	133	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ARID1A	NM_006015.4,NM_139135.2	,	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	,	1692/2286,1475/2069	27102150	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27102150C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5076C>T	1.37:g.27102150C>T						ARID1A_ENST00000540690.1_Silent_p.N20N|ARID1A_ENST00000374152.2_Silent_p.N1309N|ARID1A_ENST00000457599.2_Silent_p.N1475N	p.N1692N	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	19	5447	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1692					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Silent	SNP	ENST00000324856.7	37	c.5076C>T	CCDS285.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	8.677	0.904235	0.17760	0.001135	0.0	ENSG00000117713	ENST00000430799	.	.	.	5.2	4.27	0.50696	.	.	.	.	.	T	0.68979	0.3060	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66744	-0.5846	4	.	.	.	-10.3903	14.2018	0.65710	0.0:0.9271:0.0:0.0729	.	.	.	.	Y	589	.	.	H	+	1	0	ARID1A	26974737	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.448000	0.35112	2.711000	0.92665	0.655000	0.94253	CAT		0.498	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		7	24	0	0	0	0.029380	0	7	24				
PLCXD3	345557	broad.mit.edu	37	5	41382584	41382584	+	Silent	SNP	A	A	G			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr5:41382584A>G	ENST00000377801.3	-	2	230	c.156T>C	c.(154-156)ccT>ccC	p.P52P	PLCXD3_ENST00000328457.3_Silent_p.P52P			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	52	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CTGGCTGCTCAGGACCTACTG	0.448																																						ENST00000377801.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(154-156)ccT>ccC		phosphatidylinositol-specific phospholipase C, X domain containing 3							53.0	59.0	57.0					5																	41382584		2203	4299	6502	SO:0001819	synonymous_variant	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41382584A>G		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.156T>C	5.37:g.41382584A>G						PLCXD3_ENST00000328457.3_Silent_p.P52P	p.P52P			Q63HM9	PLCX3_HUMAN			2	230	-			52			PI-PLC X-box.		A6NL04	Silent	SNP	ENST00000377801.3	37	c.156T>C	CCDS34150.1																																																																																				0.448	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		8	52	0	0	0	0.047766	0	8	52				
TBX19	9095	broad.mit.edu	37	1	168274332	168274332	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr1:168274332G>T	ENST00000367821.3	+	6	865	c.814G>T	c.(814-816)Gct>Tct	p.A272S		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	272					anatomical structure morphogenesis (GO:0009653)|cell fate commitment (GO:0045165)|pituitary gland development (GO:0021983)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					GCCTCTGCCTGCTCCCCACAC	0.552																																						ENST00000367821.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34						c.(814-816)Gct>Tct		T-box 19							151.0	141.0	144.0					1																	168274332		2203	4300	6503	SO:0001583	missense	9095				anatomical structure morphogenesis	nucleus	DNA binding	g.chr1:168274332G>T	AJ010277	CCDS1272.1	1q23-q24	2008-02-05			ENSG00000143178	ENSG00000143178		"""T-boxes"""	11596	protein-coding gene	gene with protein product	"""TBS 19"""	604614				9888994	Standard	NM_005149		Approved	dj747L4.1, TPIT	uc001gfl.3	O60806	OTTHUMG00000034648	ENST00000367821.3:c.814G>T	1.37:g.168274332G>T	ENSP00000356795:p.Ala272Ser						p.A272S	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN			6	865	+	all_hematologic(923;0.215)		272					Q52M53	Missense_Mutation	SNP	ENST00000367821.3	37	c.814G>T	CCDS1272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.423|7.423	0.637133|0.637133	0.14386|0.14386	.|.	.|.	ENSG00000143178|ENSG00000143178	ENST00000367821|ENST00000441464	D|.	0.95756|.	-3.8|.	5.62|5.62	3.72|3.72	0.42706|0.42706	.|.	0.294703|.	0.33732|.	N|.	0.004611|.	T|T	0.08582|0.08582	0.0213|0.0213	N|N	0.01242|0.01242	-0.935|-0.935	.|.	.|.	.|.	B|.	0.26635|.	0.155|.	B|.	0.25759|.	0.063|.	T|T	0.16958|0.16958	-1.0385|-1.0385	9|4	0.05721|.	T|.	0.95|.	.|.	14.4133|14.4133	0.67132|0.67132	0.0:0.2802:0.7198:0.0|0.0:0.2802:0.7198:0.0	.|.	272|.	O60806|.	TBX19_HUMAN|.	S|F	272|104	ENSP00000356795:A272S|.	ENSP00000356795:A272S|.	A|C	+|+	1|2	0|0	TBX19|TBX19	166540956|166540956	0.868000|0.868000	0.29978|0.29978	0.998000|0.998000	0.56505|0.56505	0.830000|0.830000	0.47004|0.47004	1.665000|1.665000	0.37449|0.37449	0.704000|0.704000	0.31869|0.31869	0.561000|0.561000	0.74099|0.74099	GCT|TGC		0.552	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083825.1	NM_005149		22	54	1	0	7.41877e-09	0.234183	8.56012e-09	22	54				
CYP8B1	1582	broad.mit.edu	37	3	42915828	42915828	+	Missense_Mutation	SNP	C	C	T	rs145159025		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr3:42915828C>T	ENST00000316161.4	-	1	1805	c.1481G>A	c.(1480-1482)cGc>cAc	p.R494H	KRBOX1_ENST00000426937.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA|CYP8B1_ENST00000437102.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	494					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity (GO:0033778)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|sterol 12-alpha-hydroxylase activity (GO:0008397)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CAGGCGGTAGCGGAAGCGCAC	0.582													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18700	0.0		0.0	False		,,,				2504	0.0					ENST00000316161.4																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23						c.(1480-1482)cGc>cAc		cytochrome P450, family 8, subfamily B, polypeptide 1							42.0	42.0	42.0					3																	42915828		2203	4300	6503	SO:0001583	missense	1582				bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity	g.chr3:42915828C>T	AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432		"""Cytochrome P450s"""	2653	protein-coding gene	gene with protein product		602172	"""cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1"""			10051404	Standard	NM_004391		Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000316161.4:c.1481G>A	3.37:g.42915828C>T	ENSP00000318867:p.Arg494His					CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000471537.1_Intron|KRBOX1_ENST00000426937.1_Intron	p.R494H	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)	1	1805	-			494					B2RCY3|O75958|Q6NWT2|Q6NWT3	Missense_Mutation	SNP	ENST00000316161.4	37	c.1481G>A	CCDS2707.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	16.17	3.046259	0.55110	.	.	ENSG00000180432	ENST00000316161	T	0.01422	4.91	5.25	4.37	0.52481	.	0.087781	0.46145	U	0.000317	T	0.09512	0.0234	M	0.87038	2.855	0.39619	D	0.969991	D	0.89917	1.0	D	0.67725	0.953	T	0.01630	-1.1308	10	0.87932	D	0	-12.9645	14.3249	0.66512	0.1493:0.8507:0.0:0.0	.	494	Q9UNU6	CP8B1_HUMAN	H	494	ENSP00000318867:R494H	ENSP00000318867:R494H	R	-	2	0	CYP8B1	42890832	0.996000	0.38824	0.936000	0.37596	0.057000	0.15508	3.103000	0.50298	1.197000	0.43143	0.462000	0.41574	CGC		0.582	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256653.1	NM_004391		7	31	0	0	0	0.038147	0	7	31				
MSLN	10232	broad.mit.edu	37	16	815614	815614	+	Silent	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr16:815614G>A	ENST00000382862.3	+	9	887	c.792G>A	c.(790-792)ccG>ccA	p.P264P	MSLN_ENST00000566549.1_Silent_p.P264P|MSLN_ENST00000563941.1_Silent_p.P264P|MSLN_ENST00000545450.2_Silent_p.P264P	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	264	Required for megakaryocyte-potentiating factor activity.				cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GCAGCATCCCGCAGGTGAGAC	0.706																																						ENST00000566549.1																			0				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20						c.(790-792)ccG>ccA		mesothelin							27.0	29.0	28.0					16																	815614		2171	4280	6451	SO:0001819	synonymous_variant	10232				cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane		g.chr16:815614G>A	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.792G>A	16.37:g.815614G>A						MSLN_ENST00000545450.2_Silent_p.P264P|MSLN_ENST00000563941.1_Silent_p.P264P|MSLN_ENST00000382862.3_Silent_p.P264P	p.P264P			Q13421	MSLN_HUMAN			9	1209	+		Hepatocellular(780;0.00335)	264			Required for megakaryocyte-potentiating factor activity.		D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Silent	SNP	ENST00000382862.3	37	c.792G>A	CCDS32356.1																																																																																				0.706	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2			5	15	0	0	0	0.184627	0	5	15				
GPRIN1	114787	broad.mit.edu	37	5	176025296	176025296	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr5:176025296C>T	ENST00000303991.4	-	2	1717	c.1540G>A	c.(1540-1542)Gcg>Acg	p.A514T		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	514					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCCCCGTCGCTGGCTCAGCC	0.627																																						ENST00000303991.4																			0				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1540-1542)Gcg>Acg		G protein regulated inducer of neurite outgrowth 1							62.0	65.0	64.0					5																	176025296		2203	4300	6503	SO:0001583	missense	114787					growth cone|plasma membrane		g.chr5:176025296C>T	AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.1540G>A	5.37:g.176025296C>T	ENSP00000305839:p.Ala514Thr						p.A514T	NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	1717	-	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	514					C9JM70|Q8ND74|Q96PZ4	Missense_Mutation	SNP	ENST00000303991.4	37	c.1540G>A	CCDS4405.1	.	.	.	.	.	.	.	.	.	.	C	6.934	0.542109	0.13250	.	.	ENSG00000169258	ENST00000303991;ENST00000335532	T	0.09163	3.01	3.89	2.91	0.33838	.	1.137900	0.06928	N	0.810527	T	0.05823	0.0152	N	0.14661	0.345	0.09310	N	1	B	0.18310	0.027	B	0.14023	0.01	T	0.40156	-0.9578	10	0.13853	T	0.58	-0.0011	4.1532	0.10247	0.0:0.6156:0.2455:0.1389	.	514	Q7Z2K8	GRIN1_HUMAN	T	514	ENSP00000305839:A514T	ENSP00000305839:A514T	A	-	1	0	GPRIN1	175957902	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	0.375000	0.20518	2.013000	0.59113	0.455000	0.32223	GCG		0.627	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1	NM_052899		12	34	0	0	0	0.080935	0	12	34				
CHRNA9	55584	broad.mit.edu	37	4	40339349	40339349	+	Silent	SNP	C	C	T	rs148584579	byFrequency	TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr4:40339349C>T	ENST00000310169.2	+	3	472	c.333C>T	c.(331-333)ctC>ctT	p.L111L	CHRNA9_ENST00000502377.1_3'UTR	NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	111					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	CCAGTGACCTCGTGTGGAGGC	0.468													C|||	2	0.000399361	0.0	0.0	5008	,	,		20564	0.0		0.001	False		,,,				2504	0.001				Esophageal Squamous(115;1297 1602 22235 25158 43327)	ENST00000310169.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33						c.(331-333)ctC>ctT		cholinergic receptor, nicotinic, alpha 9 (neuronal)	Nicotine(DB00184)	C		1,4405	2.1+/-5.4	0,1,2202	78.0	66.0	70.0		333	1.5	1.0	4	dbSNP_134	70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CHRNA9	NM_017581.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		111/480	40339349	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55584				elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	g.chr4:40339349C>T	AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	14079	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 9 (neuronal)"""	605116	"""cholinergic receptor, nicotinic, alpha polypeptide 9"""				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.333C>T	4.37:g.40339349C>T						CHRNA9_ENST00000502377.1_3'UTR	p.L111L	NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN			3	472	+			111					Q14CY7|Q4W5A2|Q9NYV2	Silent	SNP	ENST00000310169.2	37	c.333C>T	CCDS3459.1																																																																																				0.468	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1			8	23	0	0	0	0.058154	0	8	23				
SPTA1	6708	broad.mit.edu	37	1	158631136	158631136	+	Missense_Mutation	SNP	G	G	A	rs369695627		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr1:158631136G>A	ENST00000368147.4	-	18	2708	c.2528C>T	c.(2527-2529)gCc>gTc	p.A843V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	843					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTCATGGCTGGCAATGTTCTC	0.423																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(2527-2529)gCc>gTc		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		G	VAL/ALA	1,3877		0,1,1938	224.0	218.0	220.0		2528	-4.5	0.1	1		220	0,8296		0,0,4148	no	missense	SPTA1	NM_003126.2	64	0,1,6086	AA,AG,GG		0.0,0.0258,0.0082	benign	843/2420	158631136	1,12173	1939	4148	6087	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158631136G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2528C>T	1.37:g.158631136G>A	ENSP00000357129:p.Ala843Val					SPTA1_ENST00000368147.3_Missense_Mutation_p.A843V	p.A843V	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			18	2708	-	all_hematologic(112;0.0378)		843					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.2528C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.467231	0.26335	2.58E-4	0.0	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.54279	0.58;0.58	4.93	-4.48	0.03515	.	.	.	.	.	T	0.27933	0.0688	M	0.63843	1.955	0.09310	N	1	B	0.24576	0.106	B	0.35353	0.201	T	0.51973	-0.8637	9	0.41790	T	0.15	.	6.2347	0.20756	0.0659:0.1062:0.288:0.5399	.	843	P02549	SPTA1_HUMAN	V	843	ENSP00000357130:A843V;ENSP00000357129:A843V	ENSP00000357129:A843V	A	-	2	0	SPTA1	156897760	1.000000	0.71417	0.088000	0.20740	0.088000	0.18126	1.719000	0.38011	-0.623000	0.05618	-0.175000	0.13238	GCC		0.423	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		4	81	0	0	0	0.150653	0	4	81				
CACNA1S	779	broad.mit.edu	37	1	201022706	201022706	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr1:201022706C>T	ENST00000362061.3	-	30	3902	c.3676G>A	c.(3676-3678)Gag>Aag	p.E1226K	CACNA1S_ENST00000367338.3_Missense_Mutation_p.E1207K	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1226					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CGGGCACTCTCATCTGGGTCC	0.642																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(3676-3678)Gag>Aag		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						39.0	41.0	41.0					1																	201022706		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201022706C>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.3676G>A	1.37:g.201022706C>T	ENSP00000355192:p.Glu1226Lys					CACNA1S_ENST00000367338.3_Missense_Mutation_p.E1207K	p.E1226K	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			30	3902	-			1226					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.3676G>A	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	.	18.44	3.624616	0.66901	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98474	-3.92;-4.95	4.05	4.05	0.47172	Ion transport (1);	0.202931	0.41938	D	0.000788	D	0.97611	0.9217	L	0.42529	1.33	0.58432	D	0.999993	P	0.42649	0.786	P	0.51945	0.685	D	0.97925	1.0317	10	0.48119	T	0.1	.	16.8345	0.85953	0.0:1.0:0.0:0.0	.	1226	Q13698	CAC1S_HUMAN	K	1226;1207	ENSP00000355192:E1226K;ENSP00000356307:E1207K	ENSP00000355192:E1226K	E	-	1	0	CACNA1S	199289329	1.000000	0.71417	0.997000	0.53966	0.929000	0.56500	5.446000	0.66600	2.265000	0.75225	0.586000	0.80456	GAG		0.642	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		3	35	0	0	0	0.115264	0	3	35				
HLA-C	3107	broad.mit.edu	37	6	31239382	31239382	+	Nonsense_Mutation	SNP	C	C	A	rs281860433		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr6:31239382C>A	ENST00000376228.5	-	2	351	c.337G>T	c.(337-339)Gag>Tag	p.E113*	HLA-C_ENST00000383329.3_Nonsense_Mutation_p.E113*	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	113	Alpha-1.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						TCACCGTCCTCGCTCTGGTTG	0.692																																						ENST00000383329.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						c.(337-339)Gag>Tag		major histocompatibility complex, class I, C							33.0	35.0	34.0					6																	31239382		1511	2709	4220	SO:0001587	stop_gained	3107				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex		g.chr6:31239382C>A	M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4933	protein-coding gene	gene with protein product		142840	"""psoriasis susceptibility 1"""	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.337G>T	6.37:g.31239382C>A	ENSP00000365402:p.Glu113*					HLA-C_ENST00000376228.5_Nonsense_Mutation_p.E113*	p.E113*			Q9TNN7	1C05_HUMAN			2	351	-			113			Alpha-1.		O02864|O02958|Q29643|Q9MY30	Nonsense_Mutation	SNP	ENST00000376228.5	37	c.337G>T	CCDS34393.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	27.6|27.6	4.846398|4.846398	0.91277|0.91277	.|.	.|.	ENSG00000204525|ENSG00000204525	ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307|ENST00000415537	.|.	.|.	.|.	2.81|2.81	1.94|1.94	0.25998|0.25998	.|.	.|.	.|.	.|.	.|.	.|T	.|0.21062	.|0.0507	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.09037	.|-1.0693	.|3	0.87932|.	D|.	0|.	.|.	5.7834|5.7834	0.18320|0.18320	0.0:0.8471:0.0:0.1529|0.0:0.8471:0.0:0.1529	.|.	.|.	.|.	.|.	X|L	113;113;113;150|112	.|.	ENSP00000365402:E113X|.	E|R	-|-	1|2	0|0	HLA-C|HLA-C	31347361|31347361	0.009000|0.009000	0.17119|0.17119	0.576000|0.576000	0.28549|0.28549	0.520000|0.520000	0.34377|0.34377	-0.263000|-0.263000	0.08670|0.08670	0.756000|0.756000	0.33013|0.33013	0.305000|0.305000	0.20034|0.20034	GAG|CGA		0.692	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		5	20	1	0	1.23904e-05	0.184627	1.33622e-05	5	20				
MCM8	84515	broad.mit.edu	37	20	5948561	5948561	+	Silent	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr20:5948561G>A	ENST00000378896.3	+	10	1490	c.1113G>A	c.(1111-1113)aaG>aaA	p.K371K	MCM8_ENST00000265187.4_Silent_p.K355K|MCM8_ENST00000378883.1_Silent_p.K371K|MCM8_ENST00000378886.2_Silent_p.K371K	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	371					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						AGAAAACAAAGAGTTCTGAGG	0.343																																						ENST00000378896.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						c.(1111-1113)aaG>aaA		minichromosome maintenance complex component 8							122.0	128.0	126.0					20																	5948561		2203	4300	6503	SO:0001819	synonymous_variant	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5948561G>A	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.1113G>A	20.37:g.5948561G>A						MCM8_ENST00000265187.4_Silent_p.K355K|MCM8_ENST00000378886.2_Silent_p.K371K|MCM8_ENST00000378883.1_Silent_p.K371K	p.K371K	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN			10	1490	+			371					B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Silent	SNP	ENST00000378896.3	37	c.1113G>A	CCDS13094.1																																																																																				0.343	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		19	36	0	0	0	0.189662	0	19	36				
SGMS1-AS1	104355295	broad.mit.edu	37	10	52390227	52390227	+	RNA	SNP	C	C	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr10:52390227C>A	ENST00000443374.2	+	0	1416				RP11-50E11.3_ENST00000609579.1_RNA																							TGTTGTCTAGCAGATAAGATT	0.383																																						ENST00000443374.1																			0																																																			104355295							g.chr10:52390227C>A																													10.37:g.52390227C>A														0	920	+									RNA	SNP	ENST00000443374.2	37																																																																																						0.383	RP11-50E11.3-001	KNOWN	basic	antisense	antisense	OTTHUMT00000048071.2			3	8	1	0	0.004672	0.115264	0.0048483	3	8				
SLC3A2	6520	broad.mit.edu	37	11	62656109	62656109	+	Missense_Mutation	SNP	C	C	T	rs537183284		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr11:62656109C>T	ENST00000377890.2	+	12	2005	c.1837C>T	c.(1837-1839)Cgc>Tgc	p.R613C	SLC3A2_ENST00000377892.1_Missense_Mutation_p.R644C|SLC3A2_ENST00000338663.7_Missense_Mutation_p.R512C|SLC3A2_ENST00000535296.1_Missense_Mutation_p.R582C|SLC3A2_ENST00000377889.2_Missense_Mutation_p.R551C|SLC3A2_ENST00000536981.1_Missense_Mutation_p.R158C|SLC3A2_ENST00000377891.2_Missense_Mutation_p.R614C	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	613					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						TGAGCTGGAACGCCTGAAACT	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		14536	0.0		0.0	False		,,,				2504	0.001					ENST00000377892.1																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						c.(1930-1932)Cgc>Tgc		solute carrier family 3 (amino acid transporter heavy chain), member 2							45.0	47.0	46.0					11																	62656109		2201	4298	6499	SO:0001583	missense	6520				blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	g.chr11:62656109C>T		CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"""Solute carriers"""	11026	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43"", ""antigen defined by monoclonal antibody 4F2"", ""heavy chain"", ""4F2 heavy chain"", ""CD98 heavy chain"", ""monoclonal antibody 44D7"", ""4F2 cell-surface antigen heavy chain"", ""lymphocyte activation antigen 4F2 large subunit"""	158070	"""solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"""	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.1837C>T	11.37:g.62656109C>T	ENSP00000367122:p.Arg613Cys					SLC3A2_ENST00000535296.1_Missense_Mutation_p.R582C|SLC3A2_ENST00000377891.2_Missense_Mutation_p.R614C|SLC3A2_ENST00000536981.1_Missense_Mutation_p.R158C|SLC3A2_ENST00000377889.2_Missense_Mutation_p.R551C|SLC3A2_ENST00000377890.2_Missense_Mutation_p.R613C|SLC3A2_ENST00000338663.7_Missense_Mutation_p.R512C	p.R644C			P08195	4F2_HUMAN			13	2154	+			613					Q13543	Missense_Mutation	SNP	ENST00000377890.2	37	c.1930C>T	CCDS8039.2	.	.	.	.	.	.	.	.	.	.	C	15.08	2.728638	0.48833	.	.	ENSG00000168003	ENST00000377892;ENST00000377891;ENST00000377890;ENST00000542007;ENST00000377889;ENST00000535296;ENST00000338663;ENST00000422606;ENST00000536981	D;D;D;D;D;D;D	0.98381	-4.88;-4.89;-4.9;-4.88;-4.88;-4.88;-3.62	5.17	-1.02	0.10135	Glycosyl hydrolase, family 13, all-beta (1);	1.203320	0.05610	N	0.577988	D	0.95211	0.8447	N	0.19112	0.55	0.09310	N	1	D;D;D;D;D	0.62365	0.989;0.991;0.985;0.984;0.985	B;P;B;P;P	0.49332	0.327;0.607;0.402;0.511;0.607	D	0.90781	0.4679	10	0.66056	D	0.02	-0.2376	1.7749	0.03019	0.4712:0.2439:0.1162:0.1686	.	551;582;613;512;644	P08195-3;F5GZS6;P08195;P08195-2;P08195-4	.;.;4F2_HUMAN;.;.	C	644;614;613;614;551;582;512;494;158	ENSP00000367124:R644C;ENSP00000367123:R614C;ENSP00000367122:R613C;ENSP00000367121:R551C;ENSP00000444236:R582C;ENSP00000340815:R512C;ENSP00000444439:R158C	ENSP00000340815:R512C	R	+	1	0	SLC3A2	62412685	0.000000	0.05858	0.002000	0.10522	0.660000	0.38997	-0.749000	0.04813	0.077000	0.16863	0.551000	0.68910	CGC		0.657	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661		12	36	0	0	0	0.080935	0	12	36				
MYCN	4613	broad.mit.edu	37	2	16086016	16086016	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:16086016C>T	ENST00000281043.3	+	3	1489	c.1192C>T	c.(1192-1194)Cgg>Tgg	p.R398W		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	398	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			CAACGACCTTCGGTCCAGCTT	0.567			A		neuroblastoma																																	ENST00000281043.3				Dom	yes		2	2p24.1	4613	A	"""v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"""			O			neuroblastoma		0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(1192-1194)Cgg>Tgg		v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog							82.0	88.0	86.0					2																	16086016		2203	4300	6503	SO:0001583	missense	4613				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:16086016C>T	BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323		"""Basic helix-loop-helix proteins"""	7559	protein-coding gene	gene with protein product		164840		NMYC			Standard	XM_006711886		Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.1192C>T	2.37:g.16086016C>T	ENSP00000281043:p.Arg398Trp						p.R398W	NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	GBM - Glioblastoma multiforme(3;0.000332)		3	1489	+	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		398			Helix-loop-helix motif.		Q53XS5|Q6LDT9	Missense_Mutation	SNP	ENST00000281043.3	37	c.1192C>T	CCDS1687.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490125	0.64074	.	.	ENSG00000134323	ENST00000281043;ENST00000426211	D	0.97994	-4.65	5.14	4.14	0.48551	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.98532	0.9510	M	0.84326	2.69	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.98604	1.0660	10	0.87932	D	0	-18.1625	13.3347	0.60509	0.2731:0.7269:0.0:0.0	.	398	P04198	MYCN_HUMAN	W	398;316	ENSP00000281043:R398W	ENSP00000281043:R398W	R	+	1	2	MYCN	16003467	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	1.425000	0.34859	2.588000	0.87417	0.609000	0.83330	CGG		0.567	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095469.2	NM_005378		13	69	0	0	0	0.093190	0	13	69				
LILRB1	10859	broad.mit.edu	37	19	55146110	55146110	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr19:55146110G>T	ENST00000396331.1	+	11	1736	c.1379G>T	c.(1378-1380)gGg>gTg	p.G460V	LILRB1_ENST00000434867.2_Missense_Mutation_p.G460V|LILRB1_ENST00000396317.1_Missense_Mutation_p.G444V|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_Missense_Mutation_p.G460V|LILRB1_ENST00000396315.1_Missense_Mutation_p.G461V|LILRB1_ENST00000418536.2_Missense_Mutation_p.G444V|LILRB1_ENST00000396327.3_Missense_Mutation_p.G461V|LILRB1_ENST00000324602.7_Missense_Mutation_p.G461V|LILRB1_ENST00000427581.2_Missense_Mutation_p.G510V|LILRB1_ENST00000448689.1_Missense_Mutation_p.G460V|LILRB1_ENST00000396332.4_Missense_Mutation_p.G460V	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	460					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		AGGCACCTGGGGGTTGTGATC	0.572										HNSCC(37;0.09)																												ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(1378-1380)gGg>gTg		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1							115.0	89.0	98.0					19																	55146110		2203	4300	6503	SO:0001583	missense	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55146110G>T	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1379G>T	19.37:g.55146110G>T	ENSP00000379622:p.Gly460Val	HNSCC(37;0.09)				LILRB1_ENST00000396317.1_Missense_Mutation_p.G444V|LILRB1_ENST00000448689.1_Missense_Mutation_p.G460V|LILRB1_ENST00000396321.2_Missense_Mutation_p.G460V|LILRB1_ENST00000434867.2_Missense_Mutation_p.G460V|LILRB1_ENST00000396327.3_Missense_Mutation_p.G461V|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000427581.2_Missense_Mutation_p.G510V|LILRB1_ENST00000324602.7_Missense_Mutation_p.G461V|LILRB1_ENST00000396332.4_Missense_Mutation_p.G460V|LILRB1_ENST00000396315.1_Missense_Mutation_p.G461V|LILRB1_ENST00000418536.2_Missense_Mutation_p.G444V	p.G460V	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	11	1736	+			460					A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.1379G>T	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	G	2.689	-0.273581	0.05679	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.00507	7.04;7.12;6.96;7.04;7.01;6.99;7.04;7.03;6.92;7.12;6.99	1.63	-0.732	0.11147	.	6.669080	0.00481	U	0.000123	T	0.00784	0.0026	M	0.81497	2.545	0.09310	N	1	B;B;P;B;P;P	0.44734	0.042;0.013;0.604;0.015;0.842;0.469	B;B;B;B;B;B	0.43251	0.071;0.01;0.299;0.007;0.413;0.209	T	0.50482	-0.8823	10	0.29301	T	0.29	.	4.304	0.10938	0.5473:0.0:0.4527:0.0	.	444;460;461;460;461;460	A8MVE2;D9IDM5;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;.;LIRB1_HUMAN	V	460;444;460;460;461;461;460;460;510;444;461	ENSP00000379614:G460V;ENSP00000391514:G444V;ENSP00000409968:G460V;ENSP00000379622:G460V;ENSP00000379618:G461V;ENSP00000315997:G461V;ENSP00000405243:G460V;ENSP00000379623:G460V;ENSP00000395004:G510V;ENSP00000379610:G444V;ENSP00000379608:G461V	ENSP00000315997:G461V	G	+	2	0	LILRB1	59837922	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-1.151000	0.03175	-0.277000	0.09193	0.205000	0.17691	GGG		0.572	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			4	17	1	0	0.00024832	0.150653	0.000259322	4	17				
FIGN	55137	broad.mit.edu	37	2	164467308	164467308	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:164467308T>A	ENST00000333129.3	-	3	1348	c.1034A>T	c.(1033-1035)cAg>cTg	p.Q345L	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	345					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CATAGGACTCTGTGTAGATCT	0.438																																						ENST00000333129.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(1033-1035)cAg>cTg		fidgetin							130.0	123.0	125.0					2																	164467308		1922	4129	6051	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164467308T>A	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.1034A>T	2.37:g.164467308T>A	ENSP00000333836:p.Gln345Leu					FIGN_ENST00000409634.1_Intron	p.Q345L	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN			3	1348	-			345					B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.1034A>T	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	T	11.11	1.542359	0.27563	.	.	ENSG00000182263	ENST00000333129	D	0.92199	-2.99	5.94	5.94	0.96194	.	0.144806	0.49916	D	0.000126	D	0.88303	0.6400	L	0.36672	1.1	0.58432	D	0.999998	B	0.15473	0.013	B	0.16289	0.015	D	0.83682	0.0172	10	0.29301	T	0.29	-20.1387	16.4004	0.83639	0.0:0.0:0.0:1.0	.	345	Q5HY92	FIGN_HUMAN	L	345	ENSP00000333836:Q345L	ENSP00000333836:Q345L	Q	-	2	0	FIGN	164175554	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.152000	0.71812	2.270000	0.75569	0.460000	0.39030	CAG		0.438	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		21	54	0	0	0	0.076483	0	21	54				
FAM47B	170062	broad.mit.edu	37	X	34962243	34962243	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chrX:34962243C>A	ENST00000329357.5	+	1	1331	c.1295C>A	c.(1294-1296)gCg>gAg	p.A432E		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	432										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AAGACCGGAGCGTCCCATCTA	0.527																																						ENST00000329357.5																			0				breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(1294-1296)gCg>gAg		family with sequence similarity 47, member B							83.0	76.0	78.0					X																	34962243		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34962243C>A	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1295C>A	X.37:g.34962243C>A	ENSP00000328307:p.Ala432Glu						p.A432E	NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN			1	1331	+			432					Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.1295C>A	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	T	0.010	-1.759217	0.00657	.	.	ENSG00000189132	ENST00000329357	T	0.14144	2.53	0.739	-1.48	0.08745	.	.	.	.	.	T	0.10551	0.0258	N	0.14661	0.345	0.09310	N	1	D	0.69078	0.997	D	0.65233	0.933	T	0.13710	-1.0499	8	0.07175	T	0.84	.	.	.	.	.	432	Q8NA70	FA47B_HUMAN	E	432	ENSP00000328307:A432E	ENSP00000328307:A432E	A	+	2	0	FAM47B	34872164	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	-2.997000	0.00654	-2.787000	0.00358	-2.034000	0.00421	GCG		0.527	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		21	58	1	0	6.44725e-10	0.069288	7.49153e-10	21	58				
PRSS3P2	154754	broad.mit.edu	37	7	142479948	142479948	+	RNA	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr7:142479948G>A	ENST00000603901.1	+	0	80					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										ATCGTTGGGGGCTACACCTGT	0.552																																						ENST00000603901.1																			0																				109.0	76.0	86.0					7																	142479948		692	1591	2283			154754							g.chr7:142479948G>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142479948G>A								NR_001296.3						0	80	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.552	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		14	88	0	0	0	0.160694	0	14	88				
ZDHHC15	158866	broad.mit.edu	37	X	74742782	74742782	+	Silent	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chrX:74742782G>A	ENST00000373367.3	-	1	308	c.78C>T	c.(76-78)ctC>ctT	p.L26L	ZDHHC15_ENST00000541184.1_Silent_p.L26L|ZDHHC15_ENST00000482827.1_5'UTR|ZDHHC15_ENST00000373361.3_Silent_p.L26L	NM_144969.2	NP_659406.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	26					establishment of protein localization (GO:0045184)|protein palmitoylation (GO:0018345)|synaptic vesicle maturation (GO:0016188)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						GGACAATAACGAGCACTGGCA	0.587																																						ENST00000541184.1																			0				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						c.(76-78)ctC>ctT		zinc finger, DHHC-type containing 15							107.0	82.0	90.0					X																	74742782		2203	4300	6503	SO:0001819	synonymous_variant	158866					integral to membrane	zinc ion binding	g.chrX:74742782G>A	AK056374	CCDS14430.1, CCDS55454.1	Xq13.3	2008-05-02			ENSG00000102383	ENSG00000102383		"""Zinc fingers, DHHC-type"""	20342	protein-coding gene	gene with protein product		300576					Standard	NM_144969		Approved	FLJ31812, MRX91	uc004ecg.3	Q96MV8	OTTHUMG00000021866	ENST00000373367.3:c.78C>T	X.37:g.74742782G>A						ZDHHC15_ENST00000373361.3_Silent_p.L26L|ZDHHC15_ENST00000482827.1_5'UTR|ZDHHC15_ENST00000373367.3_Silent_p.L26L	p.L26L	NM_001146256.1	NP_001139728.1	Q96MV8	ZDH15_HUMAN			1	555	-			26					B3KVG7|Q3SY30|Q6UWH3	Silent	SNP	ENST00000373367.3	37	c.78C>T	CCDS14430.1																																																																																				0.587	ZDHHC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057283.1	NM_144969		4	31	0	0	0	0.150653	0	4	31				
EEF1D	1936	broad.mit.edu	37	8	144659308	144659308	+	IGR	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr8:144659308C>T	ENST00000529272.1	-	0	1311				NAPRT1_ENST00000435154.3_Missense_Mutation_p.R203Q|RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000460623.1_5'Flank|NAPRT1_ENST00000449291.2_Missense_Mutation_p.R203Q|NAPRT1_ENST00000426292.3_Missense_Mutation_p.R203Q|NAPRT1_ENST00000276844.7_Missense_Mutation_p.R203Q|RP11-661A12.7_ENST00000529247.1_RNA			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CGGCACACCTCGCAGCTGGCC	0.677																																						ENST00000449291.2																			0				endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(607-609)cGa>cAa		nicotinate phosphoribosyltransferase domain containing 1							29.0	34.0	32.0					8																	144659308		2199	4298	6497	SO:0001628	intergenic_variant	93100				nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity	g.chr8:144659308C>T	AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191		8.37:g.144659308C>T						RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000426292.3_Missense_Mutation_p.R203Q|NAPRT1_ENST00000435154.3_Missense_Mutation_p.R203Q|NAPRT1_ENST00000276844.7_Missense_Mutation_p.R203Q	p.R203Q			Q6XQN6	PNCB_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	902	-	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		203					B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Missense_Mutation	SNP	ENST00000529272.1	37	c.608G>A	CCDS6405.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.894929	0.52121	.	.	ENSG00000147813	ENST00000435154;ENST00000449291;ENST00000340490;ENST00000426292;ENST00000276844	T;T;T;T;T	0.42513	0.99;0.99;0.97;0.99;0.98	4.39	4.39	0.52855	Quinolinate phosphoribosyl transferase, C-terminal (1);	0.457935	0.23532	N	0.047175	T	0.35566	0.0936	N	0.14661	0.345	0.09310	N	1	D;D;D;D	0.64830	0.994;0.976;0.993;0.994	P;P;P;P	0.55999	0.639;0.694;0.683;0.789	T	0.13548	-1.0505	10	0.72032	D	0.01	-20.1146	6.0351	0.19702	0.0:0.7874:0.0:0.2126	.	203;203;203;203	C9J8U2;G5E977;Q6XQN6-3;Q6XQN6	.;.;.;PNCB_HUMAN	Q	203	ENSP00000405670:R203Q;ENSP00000401508:R203Q;ENSP00000341136:R203Q;ENSP00000390949:R203Q;ENSP00000276844:R203Q	ENSP00000276844:R203Q	R	-	2	0	NAPRT1	144730451	0.407000	0.25352	0.869000	0.34112	0.101000	0.19017	1.532000	0.36029	2.238000	0.73509	0.655000	0.94253	CGA		0.677	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2	NM_032378		6	20	0	0	0	0.029380	0	6	20				
MTNR1B	4544	broad.mit.edu	37	11	92715442	92715442	+	Silent	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr11:92715442C>T	ENST00000257068.2	+	2	1059	c.1053C>T	c.(1051-1053)ccC>ccT	p.P351P		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	351					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)	p.P351P(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	CAGCTCCACCCATCATTGGTG	0.567																																						ENST00000257068.2																			1	Substitution - coding silent(1)	p.P351P(1)	lung(1)	central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33						c.(1051-1053)ccC>ccT		melatonin receptor 1B	Ramelteon(DB00980)						46.0	50.0	49.0					11																	92715442		2201	4298	6499	SO:0001819	synonymous_variant	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92715442C>T	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.1053C>T	11.37:g.92715442C>T							p.P351P	NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN			2	1059	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	351						Silent	SNP	ENST00000257068.2	37	c.1053C>T	CCDS8290.1																																																																																				0.567	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			9	53	0	0	0	0.047766	0	9	53				
NLRP7	199713	broad.mit.edu	37	19	55449436	55449436	+	Missense_Mutation	SNP	C	C	T	rs139797510	byFrequency	TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr19:55449436C>T	ENST00000590030.1	-	4	2145	c.2105G>A	c.(2104-2106)aGc>aAc	p.S702N	NLRP7_ENST00000340844.2_Missense_Mutation_p.S702N|NLRP7_ENST00000448121.2_Missense_Mutation_p.S674N|NLRP7_ENST00000328092.5_Missense_Mutation_p.S674N|NLRP7_ENST00000588756.1_Missense_Mutation_p.S702N|NLRP7_ENST00000446217.1_Missense_Mutation_p.S730N|NLRP7_ENST00000592784.1_Missense_Mutation_p.S702N			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	702							ATP binding (GO:0005524)	p.S674I(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		ATGACAGGTGCTACGGGTTAC	0.433																																						ENST00000446217.1																			1	Substitution - Missense(1)	p.S674I(1)	large_intestine(1)	autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(2188-2190)aGc>aAc		NLR family, pyrin domain containing 7		C	ASN/SER,ASN/SER,ASN/SER	0,4406		0,0,2203	241.0	250.0	247.0		2105,2021,2105	-4.4	0.0	19	dbSNP_134	247	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense	NLRP7	NM_001127255.1,NM_139176.3,NM_206828.3	46,46,46	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	benign,benign,benign	702/1038,674/1010,702/981	55449436	4,13002	2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55449436C>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.2105G>A	19.37:g.55449436C>T	ENSP00000465520:p.Ser702Asn					NLRP7_ENST00000340844.2_Missense_Mutation_p.S702N|NLRP7_ENST00000592784.1_Missense_Mutation_p.S702N|NLRP7_ENST00000590030.1_Missense_Mutation_p.S702N|NLRP7_ENST00000588756.1_Missense_Mutation_p.S702N|NLRP7_ENST00000328092.5_Missense_Mutation_p.S674N|NLRP7_ENST00000448121.2_Missense_Mutation_p.S674N	p.S730N			Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	7	2591	-			702					E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.2189G>A	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	0.412	-0.912906	0.02415	0.0	4.65E-4	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T	0.53640	0.61;0.61;0.61	2.19	-4.38	0.03622	.	1.961300	0.03163	N	0.169586	T	0.28267	0.0698	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.13145	0.002;0.002;0.004;0.007	B;B;B;B	0.13407	0.003;0.006;0.006;0.009	T	0.06215	-1.0839	10	0.44086	T	0.13	.	1.2924	0.02062	0.1536:0.2812:0.3174:0.2479	.	730;702;702;674	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	N	702;674;702;730;469	ENSP00000409137:S674N;ENSP00000339491:S702N;ENSP00000414273:S730N	ENSP00000329568:S702N	S	-	2	0	NLRP7	60141248	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.406000	0.00482	-2.461000	0.00536	-1.334000	0.01262	AGC		0.433	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		52	171	0	0	0	0.139131	0	52	171				
IQCH	64799	broad.mit.edu	37	15	67571827	67571827	+	Silent	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr15:67571827C>T	ENST00000335894.4	+	4	430	c.364C>T	c.(364-366)Ctg>Ttg	p.L122L	IQCH_ENST00000358767.3_5'UTR|IQCH_ENST00000512104.1_Silent_p.L122L|IQCH_ENST00000560790.1_3'UTR|IQCH_ENST00000546225.1_5'UTR	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	122										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CAGTTCATCTCTGCCTGTCTT	0.428																																						ENST00000335894.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33						c.(364-366)Ctg>Ttg		IQ motif containing H							47.0	45.0	46.0					15																	67571827		2201	4299	6500	SO:0001819	synonymous_variant	64799							g.chr15:67571827C>T	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.364C>T	15.37:g.67571827C>T						IQCH_ENST00000512104.1_Silent_p.L122L|IQCH_ENST00000560790.1_3'UTR|IQCH_ENST00000546225.1_5'UTR|IQCH_ENST00000358767.3_5'UTR	p.L122L	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN		Colorectal(3;0.0856)	4	430	+			122					A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Silent	SNP	ENST00000335894.4	37	c.364C>T	CCDS32273.1																																																																																				0.428	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784		28	27	0	0	0	0.134883	0	28	27				
GBA3	57733	broad.mit.edu	37	4	22820400	22820400	+	RNA	SNP	A	A	T	rs377577192		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr4:22820400A>T	ENST00000503442.1	+	0	434				GBA3_ENST00000508264.1_RNA|GBA3_ENST00000511446.2_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)	p.N422Y(1)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCTTCTGGATAACTTTGAGTG	0.423																																						ENST00000508264.1																			1	Substitution - Missense(1)	p.N422Y(1)	lung(1)	breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33								glucosidase, beta, acid 3 (gene/pseudogene)							85.0	77.0	79.0					4																	22820400		1869	4105	5974			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22820400A>T	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22820400A>T						GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.1_RNA|GBA3_ENST00000503442.1_RNA				Q9H227	GBA3_HUMAN			0	222	+								Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	RNA	SNP	ENST00000503442.1	37																																																																																						0.423	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			3	19	0	0	0	0.115264	0	3	19				
UNC13B	10497	broad.mit.edu	37	9	35310565	35310565	+	Missense_Mutation	SNP	G	G	A	rs200296975		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr9:35310565G>A	ENST00000378495.3	+	9	1085	c.863G>A	c.(862-864)cGg>cAg	p.R288Q	UNC13B_ENST00000378496.4_Missense_Mutation_p.R288Q|UNC13B_ENST00000396787.1_Missense_Mutation_p.R300Q	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	288					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GACGACCATCGGGAGACGGAC	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		19777	0.001		0.0	False		,,,				2504	0.0					ENST00000378495.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(862-864)cGg>cAg		unc-13 homolog B (C. elegans)		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	135.0	133.0	134.0		863	4.9	1.0	9		134	0,8600		0,0,4300	no	missense	UNC13B	NM_006377.3	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	288/1592	35310565	1,13005	2203	4300	6503	SO:0001583	missense	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35310565G>A	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.863G>A	9.37:g.35310565G>A	ENSP00000367756:p.Arg288Gln					UNC13B_ENST00000378496.4_Missense_Mutation_p.R288Q|UNC13B_ENST00000396787.1_Missense_Mutation_p.R300Q	p.R288Q	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		9	1085	+	all_epithelial(49;0.212)		288					Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	c.863G>A	CCDS6579.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.18	1.860519	0.32884	2.27E-4	0.0	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496	D;D;D	0.84070	-1.71;-1.61;-1.8	5.81	4.92	0.64577	.	0.976683	0.08449	N	0.944264	T	0.69260	0.3091	N	0.22421	0.69	0.26385	N	0.976661	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.55231	-0.8173	10	0.02654	T	1	-3.7723	8.3372	0.32221	0.1819:0.0:0.8181:0.0	.	288;288;288	Q2NKJ5;F8W8M9;O14795	.;.;UN13B_HUMAN	Q	300;288;288	ENSP00000380006:R300Q;ENSP00000367756:R288Q;ENSP00000367757:R288Q	ENSP00000367756:R288Q	R	+	2	0	UNC13B	35300565	0.926000	0.31397	1.000000	0.80357	0.520000	0.34377	0.871000	0.28023	1.464000	0.47987	0.655000	0.94253	CGG		0.517	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		40	218	0	0	0	0.225048	0	40	218				
CEACAM18	729767	broad.mit.edu	37	19	51981929	51981929	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr19:51981929G>T	ENST00000396477.4	+	1	54	c.33G>T	c.(31-33)tgG>tgT	p.W11C	CEACAM18_ENST00000451626.1_Missense_Mutation_p.W72C	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	11										breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GGAGCCTGTGGAGGAGGGTCT	0.632																																						ENST00000396477.4																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17						c.(31-33)tgG>tgT		carcinoembryonic antigen-related cell adhesion molecule 18							29.0	31.0	30.0					19																	51981929		1949	4159	6108	SO:0001583	missense	729767					integral to membrane		g.chr19:51981929G>T			19q13.41	2013-01-29				ENSG00000213822		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.33G>T	19.37:g.51981929G>T	ENSP00000379738:p.Trp11Cys					CEACAM18_ENST00000451626.1_Missense_Mutation_p.W72C	p.W11C	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	1	54	+		all_neural(266;0.0529)	72					C9JN24	Missense_Mutation	SNP	ENST00000396477.4	37	c.33G>T		.	.	.	.	.	.	.	.	.	.	.	10.18	1.279425	0.23307	.	.	ENSG00000213822	ENST00000451626;ENST00000451086;ENST00000396477	T	0.12039	2.72	2.8	1.72	0.24424	.	.	.	.	.	T	0.10594	0.0259	L	0.29908	0.895	0.09310	N	0.999992	B	0.30973	0.302	B	0.32724	0.151	T	0.28235	-1.0050	9	0.54805	T	0.06	.	7.667	0.28437	0.0:0.2625:0.7375:0.0	.	72	A8MTB9	CEA18_HUMAN	C	72;11;11	ENSP00000402203:W72C	ENSP00000379738:W11C	W	+	3	0	CEACAM18	56673741	0.042000	0.20092	0.009000	0.14445	0.012000	0.07955	1.637000	0.37155	0.730000	0.32425	0.655000	0.94253	TGG		0.632	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000323114.2			6	16	1	0	5.18039e-06	0.038147	5.62345e-06	6	16				
THBS4	7060	broad.mit.edu	37	5	79336023	79336023	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr5:79336023C>T	ENST00000350881.2	+	2	402	c.212C>T	c.(211-213)tCa>tTa	p.S71L	THBS4_ENST00000511733.1_5'UTR	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	71	Laminin G-like.				behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		ACTAAAAGTTCAGCCACCATC	0.443																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(211-213)tCa>tTa		thrombospondin 4							65.0	63.0	64.0					5																	79336023		2203	4300	6503	SO:0001583	missense	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79336023C>T		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.212C>T	5.37:g.79336023C>T	ENSP00000339730:p.Ser71Leu					THBS4_ENST00000511733.1_5'UTR	p.S71L	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	2	402	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	71			TSP N-terminal.		B2R909|Q86TG2	Missense_Mutation	SNP	ENST00000350881.2	37	c.212C>T	CCDS4049.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.180057	0.57800	.	.	ENSG00000113296	ENST00000350881	T	0.02421	4.3	5.31	5.31	0.75309	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.428045	0.25189	N	0.032465	T	0.04092	0.0114	L	0.36672	1.1	0.80722	D	1	B	0.24258	0.1	B	0.18561	0.022	T	0.47724	-0.9095	10	0.56958	D	0.05	-4.73	17.7383	0.88400	0.0:1.0:0.0:0.0	.	71	P35443	TSP4_HUMAN	L	71	ENSP00000339730:S71L	ENSP00000339730:S71L	S	+	2	0	THBS4	79371779	0.930000	0.31532	0.917000	0.36280	0.988000	0.76386	4.559000	0.60796	2.472000	0.83506	0.446000	0.29264	TCA		0.443	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			11	31	0	0	0	0.069234	0	11	31				
UBR5	51366	broad.mit.edu	37	8	103317373	103317373	+	Silent	SNP	A	A	G			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr8:103317373A>G	ENST00000520539.1	-	21	3373	c.2767T>C	c.(2767-2769)Ttg>Ctg	p.L923L	UBR5_ENST00000521922.1_Silent_p.L917L|UBR5_ENST00000220959.4_Silent_p.L923L	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	923					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CAAGCATGCAAAATATTTCGA	0.373																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(2767-2769)Ttg>Ctg		ubiquitin protein ligase E3 component n-recognin 5							169.0	163.0	165.0					8																	103317373		2203	4300	6503	SO:0001819	synonymous_variant	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103317373A>G	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.2767T>C	8.37:g.103317373A>G						UBR5_ENST00000220959.4_Silent_p.L923L|UBR5_ENST00000521922.1_Silent_p.L917L	p.L923L	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		21	3373	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		923					B2RP24|J3KMW7|O94970|Q9NPL3	Silent	SNP	ENST00000520539.1	37	c.2767T>C	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	A	10.25	1.297970	0.23650	.	.	ENSG00000104517	ENST00000520898;ENST00000519365	.	.	.	5.05	1.16	0.20824	.	.	.	.	.	T	0.57066	0.2028	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48293	-0.9048	4	.	.	.	.	8.8883	0.35418	0.6165:0.0:0.3835:0.0	.	.	.	.	S	13;38	.	.	F	-	2	0	UBR5	103386549	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	1.768000	0.38511	-0.030000	0.13804	0.254000	0.18369	TTT		0.373	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		25	104	0	0	0	0.083992	0	25	104				
CLK2	1196	broad.mit.edu	37	1	155234031	155234031	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr1:155234031G>A	ENST00000368361.4	-	11	1522	c.1207C>T	c.(1207-1209)Cgg>Tgg	p.R403W	SCAMP3_ENST00000355379.3_5'Flank|CLK2_ENST00000355560.4_Missense_Mutation_p.R401W|SCAMP3_ENST00000302631.3_5'Flank|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000536801.1_Missense_Mutation_p.R403W|CLK2_ENST00000361168.5_Missense_Mutation_p.R402W			P49760	CLK2_HUMAN	CDC-like kinase 2	403	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.R403R(1)		endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CGGATCATCCGGGAAGGGATA	0.443								Other conserved DNA damage response genes																														ENST00000368361.4																			1	Substitution - coding silent(1)	p.R403R(1)	lung(1)	endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22						c.(1207-1209)Cgg>Tgg	Other conserved DNA damage response genes	CDC-like kinase 2							109.0	103.0	105.0					1																	155234031		2203	4300	6503	SO:0001583	missense	1196					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:155234031G>A	L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.1207C>T	1.37:g.155234031G>A	ENSP00000357345:p.Arg403Trp					CLK2_ENST00000355560.4_Missense_Mutation_p.R401W|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000536801.1_Missense_Mutation_p.R403W|CLK2_ENST00000361168.5_Missense_Mutation_p.R402W	p.R403W			P49760	CLK2_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		11	1522	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		403			Protein kinase.		B1AVS9|B5MBX6|Q96CQ0	Missense_Mutation	SNP	ENST00000368361.4	37	c.1207C>T		.	.	.	.	.	.	.	.	.	.	.	16.95	3.264501	0.59431	.	.	ENSG00000176444	ENST00000361168;ENST00000368361;ENST00000355560;ENST00000424156;ENST00000536801	T;T;T;T	0.20738	2.05;2.05;2.05;2.05	4.33	3.39	0.38822	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.07458	0.0188	L	0.31664	0.95	0.80722	D	1	P;P	0.45176	0.704;0.852	B;B	0.37422	0.218;0.249	T	0.08953	-1.0697	10	0.87932	D	0	.	12.3665	0.55232	0.0:0.0:0.8298:0.1702	.	403;402	P49760;P49760-3	CLK2_HUMAN;.	W	402;403;401;175;403	ENSP00000354856:R402W;ENSP00000357345:R403W;ENSP00000347759:R401W;ENSP00000441023:R403W	ENSP00000347759:R401W	R	-	1	2	CLK2	153500655	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.564000	0.60830	1.131000	0.42111	0.555000	0.69702	CGG		0.443	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	NM_003993		16	48	0	0	0	0.175082	0	16	48				
ALDOC	230	broad.mit.edu	37	17	26902241	26902241	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr17:26902241C>G	ENST00000226253.4	-	3	699	c.224G>C	c.(223-225)gGa>gCa	p.G75A	ALDOC_ENST00000395321.2_Missense_Mutation_p.G75A|ALDOC_ENST00000395319.3_Missense_Mutation_p.G75A|RP11-192H23.5_ENST00000585189.1_RNA	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	75					aging (GO:0007568)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|organ regeneration (GO:0031100)|protein heterotetramerization (GO:0051290)|protein homotetramerization (GO:0051289)|response to hypoxia (GO:0001666)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	cytoskeletal protein binding (GO:0008092)|fructose-bisphosphate aldolase activity (GO:0004332)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					AATGACGCCTCCAATGCACTT	0.527											OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000226253.4																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						c.(223-225)gGa>gCa		aldolase C, fructose-bisphosphate							90.0	88.0	89.0					17																	26902241		2203	4300	6503	SO:0001583	missense	230				fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity	g.chr17:26902241C>G	AF054987	CCDS11236.1	17q11.2	2013-09-20			ENSG00000109107	ENSG00000109107	4.1.2.13		418	protein-coding gene	gene with protein product		103870					Standard	XM_005257947		Approved		uc002hbp.3	P09972	OTTHUMG00000132605	ENST00000226253.4:c.224G>C	17.37:g.26902241C>G	ENSP00000226253:p.Gly75Ala		OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	790	ALDOC_ENST00000395321.2_Missense_Mutation_p.G75A|ALDOC_ENST00000395319.3_Missense_Mutation_p.G75A	p.G75A	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN			3	699	-	Lung NSC(42;0.00431)		75					B2R5R3|Q3SYL3|Q6FH94|Q6P0L5	Missense_Mutation	SNP	ENST00000226253.4	37	c.224G>C	CCDS11236.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.619133	0.46736	.	.	ENSG00000109107	ENST00000395319;ENST00000226253;ENST00000395321;ENST00000435638	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	6.17	6.17	0.99709	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.91640	0.7358	M	0.81497	2.545	0.80722	D	1	P;P	0.51791	0.868;0.948	P;P	0.56823	0.734;0.807	D	0.90633	0.4568	10	0.48119	T	0.1	.	19.6509	0.95805	0.0:1.0:0.0:0.0	.	75;75	A8MVZ9;P09972	.;ALDOC_HUMAN	A	75	ENSP00000378729:G75A;ENSP00000226253:G75A;ENSP00000378731:G75A;ENSP00000398976:G75A	ENSP00000226253:G75A	G	-	2	0	ALDOC	23926368	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GGA		0.527	ALDOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255839.4			9	24	0	0	0	0.047766	0	9	24				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	39	0	0	0	0.217242	0	4	39				
HIBCH	26275	broad.mit.edu	37	2	191116990	191116990	+	Silent	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:191116990G>A	ENST00000359678.5	-	8	855	c.561C>T	c.(559-561)ctC>ctT	p.L187L	HIBCH_ENST00000410045.1_5'Flank|HIBCH_ENST00000392332.3_Silent_p.L187L	NM_014362.3|NM_198047.2	NP_055177.2|NP_932164.1	Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	187				LPRLQGKLGYFLALT -> FATTPRKTWLLPCIN (in Ref. 1; AAC52114). {ECO:0000305}.	branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	3-hydroxyisobutyryl-CoA hydrolase activity (GO:0003860)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			GTTTTCCTTGGAGTCGTGGCA	0.363																																						ENST00000392332.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13						c.(559-561)ctC>ctT		3-hydroxyisobutyryl-CoA hydrolase							81.0	73.0	76.0					2																	191116990		2203	4300	6503	SO:0001819	synonymous_variant	26275				branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding	g.chr2:191116990G>A	U66669	CCDS2304.1, CCDS46475.1	2q32.3	2010-04-29	2010-04-29		ENSG00000198130	ENSG00000198130	3.1.2.4		4908	protein-coding gene	gene with protein product		610690	"""3-hydroxyisobutyryl-Coenzyme A hydrolase"""			8824301	Standard	NM_014362		Approved		uc002uru.3	Q6NVY1	OTTHUMG00000132673	ENST00000359678.5:c.561C>T	2.37:g.191116990G>A						HIBCH_ENST00000359678.5_Silent_p.L187L	p.L187L			Q6NVY1	HIBCH_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)		8	700	-			187	LPRLQGKLGYFLALT -> FATTPRKTWLLPCIN (in Ref. 1; AAC52114).				D3DPI4|Q53GA8|Q53GF2|Q53RF7|Q53TC6|Q92931|Q9BS94	Silent	SNP	ENST00000359678.5	37	c.561C>T	CCDS2304.1																																																																																				0.363	HIBCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255933.1			21	33	0	0	0	0.204396	0	21	33				
LIN28B	389421	broad.mit.edu	37	6	105474273	105474273	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr6:105474273C>G	ENST00000345080.4	+	3	502	c.299C>G	c.(298-300)aCa>aGa	p.T100R		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	100	CSD.				miRNA catabolic process (GO:0010587)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA 3'-end processing (GO:0031123)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				ATACGGGTAACAGGACCTGGT	0.403																																						ENST00000345080.4																			0				large_intestine(1)|lung(10)|ovary(1)	12						c.(298-300)aCa>aGa		lin-28 homolog B (C. elegans)							129.0	145.0	140.0					6																	105474273		2203	4300	6503	SO:0001583	missense	389421				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr6:105474273C>G	AK131411	CCDS34504.1	6q21	2010-04-06			ENSG00000187772	ENSG00000187772			32207	protein-coding gene	gene with protein product		611044					Standard	NM_001004317		Approved	FLJ16517, CSDD2	uc003pqv.2	Q6ZN17	OTTHUMG00000015290	ENST00000345080.4:c.299C>G	6.37:g.105474273C>G	ENSP00000344401:p.Thr100Arg						p.T100R	NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN			3	502	+		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)	100			CSD.		A1L165|B2RPN6|Q5TCM4	Missense_Mutation	SNP	ENST00000345080.4	37	c.299C>G	CCDS34504.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020983	0.93462	.	.	ENSG00000187772	ENST00000345080	.	.	.	5.87	5.87	0.94306	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (1);Nucleic acid-binding, OB-fold (1);	0.044802	0.85682	D	0.000000	T	0.61123	0.2322	N	0.20881	0.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.99;0.996	T	0.66221	-0.5978	9	0.87932	D	0	-17.8362	20.2084	0.98285	0.0:1.0:0.0:0.0	.	77;100	A7E2T3;Q6ZN17	.;LN28B_HUMAN	R	100	.	ENSP00000344401:T100R	T	+	2	0	LIN28B	105580966	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.792000	0.85828	2.774000	0.95407	0.650000	0.86243	ACA		0.403	LIN28B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041646.2	NM_001004317		21	87	0	0	0	0.083992	0	21	87				
HMCN1	83872	broad.mit.edu	37	1	186158913	186158913	+	Missense_Mutation	SNP	G	G	T	rs372803002		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr1:186158913G>T	ENST00000271588.4	+	107	17040	c.16811G>T	c.(16810-16812)cGc>cTc	p.R5604L	HMCN1_ENST00000367492.2_Missense_Mutation_p.R5487L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5604					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.R5604H(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAGACCTACCGCATGAGGGTC	0.468																																						ENST00000271588.4																			1	Substitution - Missense(1)	p.R5604H(1)	large_intestine(1)	NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(16810-16812)cGc>cTc		hemicentin 1		G	LEU/ARG	0,4406		0,0,2203	109.0	96.0	100.0		16811	5.9	1.0	1		100	1,8599	1.2+/-3.3	0,1,4299	no	missense	HMCN1	NM_031935.2	102	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	possibly-damaging	5604/5636	186158913	1,13005	2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186158913G>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.16811G>T	1.37:g.186158913G>T	ENSP00000271588:p.Arg5604Leu					HMCN1_ENST00000367492.2_Missense_Mutation_p.R5487L	p.R5604L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			107	17040	+			5604					A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.16811G>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.982003	0.93044	0.0	1.16E-4	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.64260	-0.08;-0.09	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.72244	0.3436	M	0.68593	2.085	0.36335	D	0.859139	D	0.58970	0.984	P	0.54372	0.75	T	0.79296	-0.1862	10	0.72032	D	0.01	.	15.43	0.75084	0.0678:0.0:0.9322:0.0	.	5604	Q96RW7	HMCN1_HUMAN	L	5604;5487	ENSP00000271588:R5604L;ENSP00000356462:R5487L	ENSP00000271588:R5604L	R	+	2	0	HMCN1	184425536	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.932000	0.87634	2.793000	0.96121	0.655000	0.94253	CGC		0.468	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		11	35	1	0	1.58986e-06	0.069234	1.77248e-06	11	35				
SORCS3	22986	broad.mit.edu	37	10	106937929	106937929	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr10:106937929G>T	ENST00000369701.3	+	14	2234	c.2007G>T	c.(2005-2007)atG>atT	p.M669I	SORCS3_ENST00000369699.4_Intron	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	669					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CCCACATCATGACGTGAGTAC	0.493																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(2005-2007)atG>atT		sortilin-related VPS10 domain containing receptor 3							172.0	144.0	154.0					10																	106937929		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106937929G>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2007G>T	10.37:g.106937929G>T	ENSP00000358715:p.Met669Ile					SORCS3_ENST00000369699.4_Intron	p.M669I	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	14	2234	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	669					Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.2007G>T	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.063479	0.55432	.	.	ENSG00000156395	ENST00000369701;ENST00000393176	T;T	0.28069	1.63;1.63	5.65	5.65	0.86999	VPS10 (1);	0.088949	0.85682	D	0.000000	T	0.29652	0.0740	L	0.37561	1.115	0.58432	D	0.999999	P	0.34780	0.468	B	0.37091	0.241	T	0.02464	-1.1155	9	.	.	.	.	18.4894	0.90842	0.0:0.0:1.0:0.0	.	669	Q9UPU3	SORC3_HUMAN	I	669;114	ENSP00000358715:M669I;ENSP00000376876:M114I	.	M	+	3	0	SORCS3	106927919	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.170000	0.77587	2.645000	0.89757	0.585000	0.79938	ATG		0.493	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		4	34	1	0	0.00024832	0.150653	0.000259322	4	34				
PDE3A	5139	broad.mit.edu	37	12	20766410	20766410	+	Missense_Mutation	SNP	G	G	A	rs150253039		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr12:20766410G>A	ENST00000359062.3	+	3	1085	c.1045G>A	c.(1045-1047)Gtc>Atc	p.V349I	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	349					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)	p.V349I(2)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GGACATCGCCGTCATGGGCGA	0.517													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18125	0.0		0.0	False		,,,				2504	0.0					ENST00000359062.3																			2	Substitution - Missense(2)	p.V349I(2)	upper_aerodigestive_tract(1)|large_intestine(1)	NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(1045-1047)Gtc>Atc		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	G	ILE/VAL	7,4399	12.9+/-30.5	0,7,2196	94.0	85.0	88.0		1045	5.9	1.0	12	dbSNP_134	88	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PDE3A	NM_000921.4	29	0,8,6495	AA,AG,GG		0.0116,0.1589,0.0615	probably-damaging	349/1142	20766410	8,12998	2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20766410G>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1045G>A	12.37:g.20766410G>A	ENSP00000351957:p.Val349Ile					PDE3A_ENST00000544307.1_3'UTR	p.V349I	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			3	1085	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	349					O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.1045G>A	CCDS31754.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	29.0	4.967825	0.92855	0.001589	1.16E-4	ENSG00000172572	ENST00000359062	T	0.55413	0.52	5.86	5.86	0.93980	.	3.182960	0.00541	N	0.000228	T	0.78916	0.4359	M	0.71206	2.165	0.58432	D	0.999995	D	0.76494	0.999	D	0.75020	0.985	T	0.62627	-0.6814	10	0.51188	T	0.08	.	20.5632	0.99335	0.0:0.0:1.0:0.0	.	349	Q14432	PDE3A_HUMAN	I	349	ENSP00000351957:V349I	ENSP00000351957:V349I	V	+	1	0	PDE3A	20657677	1.000000	0.71417	0.991000	0.47740	0.671000	0.39405	8.848000	0.92172	2.937000	0.99478	0.650000	0.86243	GTC		0.517	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			8	44	0	0	0	0.038147	0	8	44				
CSAD	51380	broad.mit.edu	37	12	53554091	53554091	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr12:53554091G>A	ENST00000444623.1	-	14	1246	c.979C>T	c.(979-981)Cgc>Tgc	p.R327C	RP11-1136G11.8_ENST00000550908.1_lincRNA|CSAD_ENST00000453446.2_Missense_Mutation_p.R327C|CSAD_ENST00000267085.4_Missense_Mutation_p.R354C|CSAD_ENST00000379843.3_Missense_Mutation_p.R180C|CSAD_ENST00000379846.1_Missense_Mutation_p.R180C	NM_001244705.1	NP_001231634.1	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	327					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)		pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)	CCATGGCAGCGCTTGAGCAGG	0.602																																					Ovarian(109;252 1546 16882 28524 44645)	ENST00000267085.4																			0				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14						c.(1060-1062)Cgc>Tgc		cysteine sulfinic acid decarboxylase	L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						69.0	62.0	64.0					12																	53554091		2203	4300	6503	SO:0001583	missense	51380				carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity	g.chr12:53554091G>A	AB044561	CCDS8848.2, CCDS58235.1	12q13.11-q14.3	2008-08-04			ENSG00000139631	ENSG00000139631			18966	protein-coding gene	gene with protein product	"""P-selectin cytoplasmic tail-associated protein"""					15489334	Standard	NM_015989		Approved	PCAP, CSD	uc001sbz.3	Q9Y600	OTTHUMG00000048076	ENST00000444623.1:c.979C>T	12.37:g.53554091G>A	ENSP00000415485:p.Arg327Cys					CSAD_ENST00000444623.1_Missense_Mutation_p.R327C|CSAD_ENST00000379843.3_Missense_Mutation_p.R180C|CSAD_ENST00000453446.2_Missense_Mutation_p.R327C|CSAD_ENST00000379846.1_Missense_Mutation_p.R180C|RP11-1136G11.8_ENST00000550908.1_lincRNA	p.R354C	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN			14	1293	-			327					A8K0U4|Q4QQH9|Q9UNJ5|Q9Y601	Missense_Mutation	SNP	ENST00000444623.1	37	c.1060C>T	CCDS58235.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.012905|4.012905	0.75161|0.75161	.|.	.|.	ENSG00000139631|ENSG00000139631	ENST00000379850|ENST00000308926;ENST00000379843;ENST00000267085;ENST00000379846;ENST00000444623;ENST00000398047;ENST00000453446	.|T;T;T;T;T	.|0.40476	.|1.03;1.03;1.03;1.03;1.03	4.67|4.67	3.75|3.75	0.43078|0.43078	.|Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	.|0.613677	.|0.17145	.|N	.|0.185303	T|T	0.61837|0.61837	0.2379|0.2379	M|M	0.77486|0.77486	2.375|2.375	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;1.0	.|D;D;P	.|0.66084	.|0.932;0.941;0.849	T|T	0.64279|0.64279	-0.6445|-0.6445	5|10	.|0.56958	.|D	.|0.05	-4.899|-4.899	11.7221|11.7221	0.51688|0.51688	0.0:0.0:0.6815:0.3185|0.0:0.0:0.6815:0.3185	.|.	.|354;327;180	.|Q9Y600-3;Q9Y600;Q9Y600-2	.|.;CSAD_HUMAN;.	V|C	352|416;180;354;180;327;288;327	.|ENSP00000369172:R180C;ENSP00000267085:R354C;ENSP00000369175:R180C;ENSP00000415485:R327C;ENSP00000410648:R327C	.|ENSP00000267085:R354C	A|R	-|-	2|1	0|0	CSAD|CSAD	51840358|51840358	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	2.555000|2.555000	0.45854|0.45854	1.288000|1.288000	0.44600|0.44600	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.602	CSAD-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343697.1	NM_015989		3	37	0	0	0	0.115264	0	3	37				
RPF1	80135	broad.mit.edu	37	1	84961625	84961625	+	Missense_Mutation	SNP	C	C	T	rs139410871		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr1:84961625C>T	ENST00000370654.5	+	7	775	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W	GNG5_ENST00000487806.1_5'Flank	NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	254	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						TTTTACAACACGGCTGGGTCA	0.383																																						ENST00000370654.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						c.(760-762)Cgg>Tgg		ribosome production factor 1 homolog (S. cerevisiae)		C	TRP/ARG	0,4406		0,0,2203	94.0	89.0	90.0		760	0.1	1.0	1	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	missense	RPF1	NM_025065.6	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	254/350	84961625	1,13005	2203	4300	6503	SO:0001583	missense	80135				rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding	g.chr1:84961625C>T	AF322053	CCDS695.1	1p22.3	2009-09-25	2009-09-25	2009-09-25	ENSG00000117133	ENSG00000117133			30350	protein-coding gene	gene with protein product	"""RNA processing factor 1"", ""ribosome production factor 1"""		"""brix domain containing 5"""	BXDC5		11864606	Standard	NM_025065		Approved		uc001djv.4	Q9H9Y2	OTTHUMG00000009857	ENST00000370654.5:c.760C>T	1.37:g.84961625C>T	ENSP00000359688:p.Arg254Trp						p.R254W	NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN			7	775	+			254			Brix.		Q5VSK7|Q6AHX1|Q8WXZ8	Missense_Mutation	SNP	ENST00000370654.5	37	c.760C>T	CCDS695.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.817444	0.70912	0.0	1.16E-4	ENSG00000117133	ENST00000370654	T	0.23754	1.89	5.66	0.126	0.14722	Brix domain (3);Anticodon-binding (1);	0.053445	0.64402	N	0.000001	T	0.43700	0.1259	M	0.93808	3.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.48692	-0.9013	10	0.87932	D	0	-4.2173	7.1073	0.25370	0.4469:0.4269:0.0:0.1262	.	254	Q9H9Y2	RPF1_HUMAN	W	254	ENSP00000359688:R254W	ENSP00000359688:R254W	R	+	1	2	RPF1	84734213	0.493000	0.26035	0.994000	0.49952	0.972000	0.66771	0.983000	0.29552	0.113000	0.18004	0.655000	0.94253	CGG		0.383	RPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027238.1	NM_025065		12	37	0	0	0	0.080935	0	12	37				
ATP4A	495	broad.mit.edu	37	19	36048663	36048663	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr19:36048663G>T	ENST00000262623.3	-	11	1615	c.1587C>A	c.(1585-1587)tgC>tgA	p.C529*		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	529					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GGATGGAGCTGCAGCGCTCCA	0.701																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(1585-1587)tgC>tgA		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						13.0	14.0	14.0					19																	36048663		2190	4285	6475	SO:0001587	stop_gained	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36048663G>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.1587C>A	19.37:g.36048663G>T	ENSP00000262623:p.Cys529*						p.C529*	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		11	1615	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		529					O00738	Nonsense_Mutation	SNP	ENST00000262623.3	37	c.1587C>A	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	G	38	6.855501	0.97889	.	.	ENSG00000105675	ENST00000262623	.	.	.	3.8	1.42	0.22433	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.1251	0.25467	0.2093:0.0:0.7907:0.0	.	.	.	.	X	529	.	ENSP00000262623:C529X	C	-	3	2	ATP4A	40740503	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.787000	0.26858	0.682000	0.31407	0.484000	0.47621	TGC		0.701	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		4	11	1	0	1.024e-07	0.184627	1.16524e-07	4	11				
TMEM198	130612	broad.mit.edu	37	2	220413898	220413898	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:220413898G>A	ENST00000344458.2	+	5	1352	c.767G>A	c.(766-768)cGc>cAc	p.R256H	RP11-256I23.1_ENST00000596829.1_RNA|MIR3132_ENST00000581997.1_RNA|TMEM198_ENST00000373883.3_Missense_Mutation_p.R256H			Q66K66	TM198_HUMAN	transmembrane protein 198	256	Arg-rich.				multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CAGCGCCGACGCGTGCAACTG	0.627																																						ENST00000344458.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(766-768)cGc>cAc		transmembrane protein 198							87.0	94.0	92.0					2																	220413898		2203	4300	6503	SO:0001583	missense	130612					integral to membrane		g.chr2:220413898G>A	BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.767G>A	2.37:g.220413898G>A	ENSP00000343507:p.Arg256His					TMEM198_ENST00000373883.3_Missense_Mutation_p.R256H	p.R256H			Q66K66	TM198_HUMAN		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	5	1352	+		Renal(207;0.0376)	256			Arg-rich.			Missense_Mutation	SNP	ENST00000344458.2	37	c.767G>A	CCDS33385.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066256	0.76187	.	.	ENSG00000188760	ENST00000344458;ENST00000373883	.	.	.	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.65923	0.2738	L	0.31578	0.945	0.49213	D	0.999765	D	0.89917	1.0	D	0.78314	0.991	T	0.65232	-0.6218	9	0.39692	T	0.17	-18.2189	17.778	0.88515	0.0:0.0:1.0:0.0	.	256	Q66K66	TM198_HUMAN	H	256	.	ENSP00000343507:R256H	R	+	2	0	TMEM198	220122142	1.000000	0.71417	0.133000	0.22050	0.841000	0.47740	9.773000	0.98989	2.597000	0.87782	0.561000	0.74099	CGC		0.627	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	NM_001005209		16	99	0	0	0	0.175082	0	16	99				
HTR3B	9177	broad.mit.edu	37	11	113803665	113803665	+	Silent	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr11:113803665C>T	ENST00000260191.2	+	6	803	c.546C>T	c.(544-546)gaC>gaT	p.D182D	HTR3B_ENST00000537778.1_Silent_p.D171D	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	182					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ion channel activity (GO:0005216)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Ergoloid mesylate(DB01049)	CAGTGGAAGACGTAGACCTGG	0.463																																						ENST00000260191.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20						c.(544-546)gaC>gaT		5-hydroxytryptamine (serotonin) receptor 3B, ionotropic							132.0	118.0	123.0					11																	113803665		2201	4296	6497	SO:0001819	synonymous_variant	9177				synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113803665C>T	AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5298	protein-coding gene	gene with protein product		604654	"""5-hydroxytryptamine (serotonin) receptor 3B"""			9950429, 10521471	Standard	NM_006028		Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.546C>T	11.37:g.113803665C>T						HTR3B_ENST00000537778.1_Silent_p.D171D	p.D182D	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	6	803	+		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	182					B0YJ23|Q0VJC3	Silent	SNP	ENST00000260191.2	37	c.546C>T	CCDS8364.1	.	.	.	.	.	.	.	.	.	.	C	6.810	0.518553	0.13005	.	.	ENSG00000149305	ENST00000543092	.	.	.	6.17	-0.196	0.13232	.	.	.	.	.	T	0.58850	0.2151	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53606	-0.8415	4	.	.	.	-19.6554	11.6489	0.51277	0.0:0.511:0.0:0.489	.	.	.	.	M	111	.	.	T	+	2	0	HTR3B	113308875	0.307000	0.24500	0.699000	0.30290	0.926000	0.56050	-0.142000	0.10311	-0.235000	0.09767	-0.982000	0.02568	ACG		0.463	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398842.1	NM_006028		3	51	0	0	0	0.115264	0	3	51				
NCOA2	10499	broad.mit.edu	37	8	71071826	71071826	+	Silent	SNP	A	A	G			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr8:71071826A>G	ENST00000452400.2	-	10	1219	c.1038T>C	c.(1036-1038)ctT>ctC	p.L346L	NCOA2_ENST00000524223.1_5'Flank	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	346					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GTGCAGCAACAAGAGTGCCAT	0.408			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	ENST00000452400.2				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"""RUNXBP2, HEY1"""		"""AML, Chondrosarcoma"""	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.(1036-1038)ctT>ctC		nuclear receptor coactivator 2							152.0	150.0	151.0					8																	71071826		1918	4119	6037	SO:0001819	synonymous_variant	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71071826A>G	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.1038T>C	8.37:g.71071826A>G							p.L346L	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		10	1219	-	Breast(64;0.201)		346					Q14CD2	Silent	SNP	ENST00000452400.2	37	c.1038T>C	CCDS47872.1																																																																																				0.408	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			21	47	0	0	0	0.234183	0	21	47				
SLITRK2	84631	broad.mit.edu	37	X	144904556	144904556	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chrX:144904556A>T	ENST00000370490.1	+	1	4868	c.613A>T	c.(613-615)Att>Ttt	p.I205F	SLITRK2_ENST00000434188.2_Missense_Mutation_p.I205F|SLITRK2_ENST00000447897.2_Missense_Mutation_p.I205F|SLITRK2_ENST00000428560.2_Missense_Mutation_p.I205F|SLITRK2_ENST00000413937.2_Missense_Mutation_p.I205F			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	205					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTGAACATATTGGAGGGAT	0.473																																						ENST00000370490.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86						c.(613-615)Att>Ttt		SLIT and NTRK-like family, member 2							139.0	125.0	130.0					X																	144904556		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144904556A>T	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.613A>T	X.37:g.144904556A>T	ENSP00000359521:p.Ile205Phe					SLITRK2_ENST00000434188.2_Missense_Mutation_p.I205F|SLITRK2_ENST00000413937.2_Missense_Mutation_p.I205F|SLITRK2_ENST00000447897.2_Missense_Mutation_p.I205F|SLITRK2_ENST00000428560.2_Missense_Mutation_p.I205F	p.I205F			Q9H156	SLIK2_HUMAN			1	4868	+	Acute lymphoblastic leukemia(192;6.56e-05)		205					A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.613A>T	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	A	17.73	3.462698	0.63513	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.48021	0.1477	L	0.41236	1.265	0.58432	D	0.999998	D	0.55605	0.972	P	0.50231	0.635	T	0.51301	-0.8723	10	0.72032	D	0.01	-11.1403	11.659	0.51334	1.0:0.0:0.0:0.0	.	205	Q9H156	SLIK2_HUMAN	F	205	ENSP00000334374:I205F;ENSP00000411681:I205F;ENSP00000359521:I205F;ENSP00000397015:I205F;ENSP00000407347:I205F;ENSP00000412010:I205F	ENSP00000334374:I205F	I	+	1	0	SLITRK2	144712248	1.000000	0.71417	0.134000	0.22075	0.979000	0.70002	7.306000	0.78905	1.653000	0.50694	0.486000	0.48141	ATT		0.473	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		19	128	0	0	0	0.189662	0	19	128				
DGKB	1607	broad.mit.edu	37	7	14758228	14758228	+	Silent	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr7:14758228C>T	ENST00000403951.2	-	6	824	c.405G>A	c.(403-405)ctG>ctA	p.L135L	DGKB_ENST00000444700.2_Silent_p.L128L|DGKB_ENST00000258767.5_Silent_p.L135L|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Silent_p.L135L|DGKB_ENST00000407950.1_Silent_p.L128L|DGKB_ENST00000402815.1_Silent_p.L135L|DGKB_ENST00000406247.3_Silent_p.L135L			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	135					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						CAATGTCCTTCAGATGGATTA	0.428																																						ENST00000403951.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(403-405)ctG>ctA		diacylglycerol kinase, beta 90kDa	Phosphatidylserine(DB00144)						99.0	94.0	96.0					7																	14758228		1887	4115	6002	SO:0001819	synonymous_variant	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14758228C>T	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.405G>A	7.37:g.14758228C>T						DGKB_ENST00000399322.3_Silent_p.L135L|DGKB_ENST00000258767.5_Silent_p.L135L|DGKB_ENST00000402815.1_Silent_p.L135L|DGKB_ENST00000406247.3_Silent_p.L135L|DGKB_ENST00000444700.2_Silent_p.L128L|DGKB_ENST00000407950.1_Silent_p.L128L|DGKB_ENST00000403963.1_5'UTR	p.L135L			Q9Y6T7	DGKB_HUMAN			6	824	-			135					A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Silent	SNP	ENST00000403951.2	37	c.405G>A	CCDS47547.1																																																																																				0.428	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		11	25	0	0	0	0.069234	0	11	25				
UROC1	131669	broad.mit.edu	37	3	126220703	126220703	+	Intron	SNP	G	G	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr3:126220703G>T	ENST00000290868.2	-	10	956				UROC1_ENST00000383579.3_Missense_Mutation_p.L331I	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1						cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		AGGGGTGCAAGGTTGACAAAG	0.622																																						ENST00000383579.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39						c.(991-993)Ctt>Att		urocanate hydratase 1							73.0	75.0	74.0					3																	126220703		1568	3582	5150	SO:0001627	intron_variant	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126220703G>T	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.903-580C>A	3.37:g.126220703G>T						UROC1_ENST00000290868.2_Intron	p.L331I	NM_001165974.1	NP_001159446.1	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	10	1024	-			0					E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	ENST00000290868.2	37	c.991C>A	CCDS3038.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.183080	0.00308	.	.	ENSG00000159650	ENST00000383579	T	0.57752	0.38	1.35	0.426	0.16479	.	11.020000	0.00644	U	0.000523	T	0.27169	0.0666	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.27365	-1.0076	10	0.05436	T	0.98	.	3.5955	0.08005	0.2667:0.0:0.7333:0.0	.	331	E9PE13	.	I	331	ENSP00000373073:L331I	ENSP00000373073:L331I	L	-	1	0	UROC1	127703393	0.035000	0.19736	0.016000	0.15963	0.013000	0.08279	0.604000	0.24164	0.143000	0.18926	0.491000	0.48974	CTT		0.622	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		9	39	1	0	0.0692343	0.069234	0.0709544	9	39				
TENM3	55714	broad.mit.edu	37	4	183676102	183676102	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr4:183676102G>T	ENST00000511685.1	+	22	4705	c.4582G>T	c.(4582-4584)Ggt>Tgt	p.G1528C	TENM3_ENST00000406950.2_Missense_Mutation_p.G1528C|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1528					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TGACATCAATGGTACTCACCA	0.383																																						ENST00000511685.1																			0											c.(4582-4584)Ggt>Tgt		teneurin transmembrane protein 3							74.0	74.0	74.0					4																	183676102		1906	4134	6040	SO:0001583	missense	55714							g.chr4:183676102G>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.4582G>T	4.37:g.183676102G>T	ENSP00000424226:p.Gly1528Cys					TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.G1528C	p.G1528C							22	4705	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.4582G>T	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146795	0.77888	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.16457	2.34;2.34	5.4	5.4	0.78164	.	.	.	.	.	T	0.51415	0.1673	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58662	-0.7597	9	0.87932	D	0	.	19.3711	0.94488	0.0:0.0:1.0:0.0	.	1528	Q9P273	TEN3_HUMAN	C	1528	ENSP00000424226:G1528C;ENSP00000385276:G1528C	ENSP00000385276:G1528C	G	+	1	0	ODZ3	183913096	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.657000	0.98554	2.814000	0.96858	0.563000	0.77884	GGT		0.383	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			6	27	1	0	0.217242	0.217242	0.219908	6	27				
CD1E	913	broad.mit.edu	37	1	158325354	158325354	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr1:158325354G>A	ENST00000368167.3	+	3	859	c.620G>A	c.(619-621)cGg>cAg	p.R207Q	CD1E_ENST00000368163.3_Missense_Mutation_p.R207Q|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.R207Q|CD1E_ENST00000444681.2_Missense_Mutation_p.R108Q|CD1E_ENST00000368160.3_Missense_Mutation_p.R207Q|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.R205Q|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368166.3_Intron	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	207	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GAACTGAAACGGAAAGGTGAG	0.453																																						ENST00000444681.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(322-324)cGg>cAg		CD1e molecule							40.0	40.0	40.0					1																	158325354		1930	4128	6058	SO:0001583	missense	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158325354G>A	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.620G>A	1.37:g.158325354G>A	ENSP00000357149:p.Arg207Gln					CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.R207Q|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.R205Q|CD1E_ENST00000368167.3_Missense_Mutation_p.R207Q|CD1E_ENST00000368160.3_Missense_Mutation_p.R207Q|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.R207Q|CD1E_ENST00000368155.3_Intron	p.R108Q	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN			2	616	+	all_hematologic(112;0.0378)		207					B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	ENST00000368167.3	37	c.323G>A	CCDS41417.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.909852	0.52439	.	.	ENSG00000158488	ENST00000434258;ENST00000444681;ENST00000368167;ENST00000368163;ENST00000368160;ENST00000368161	T;T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15;2.15	4.53	-2.3	0.06785	Immunoglobulin-like (1);MHC classes I/II-like antigen recognition protein (1);	1.165440	0.06562	N	0.746878	T	0.08088	0.0202	M	0.80028	2.48	0.09310	N	1	P;D;P;P;P;P;P	0.53462	0.932;0.96;0.621;0.872;0.621;0.628;0.92	B;B;B;B;B;B;B	0.34991	0.119;0.168;0.058;0.188;0.04;0.068;0.193	T	0.33445	-0.9868	10	0.56958	D	0.05	-4.8314	4.263	0.10750	0.4841:0.0:0.3533:0.1626	.	108;205;108;207;207;207;207	B4E042;E7ET31;E7EP01;P15812-2;P15812;P15812-3;P15812-4	.;.;.;.;CD1E_HUMAN;.;.	Q	205;108;207;207;207;207	ENSP00000401957:R205Q;ENSP00000402906:R108Q;ENSP00000357149:R207Q;ENSP00000357145:R207Q;ENSP00000357142:R207Q;ENSP00000357143:R207Q	ENSP00000357142:R207Q	R	+	2	0	CD1E	156591978	0.000000	0.05858	0.000000	0.03702	0.105000	0.19272	-0.095000	0.11077	-0.200000	0.10300	0.563000	0.77884	CGG		0.453	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		5	15	0	0	0	0.217242	0	5	15				
ZNF616	90317	broad.mit.edu	37	19	52619658	52619658	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr19:52619658A>T	ENST00000600228.1	-	4	1020	c.759T>A	c.(757-759)aaT>aaA	p.N253K	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	253					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		CAAAATATGAATTTTTTCTGA	0.398																																						ENST00000600228.1																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(757-759)aaT>aaA		zinc finger protein 616							96.0	94.0	95.0					19																	52619658		2203	4300	6503	SO:0001583	missense	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52619658A>T	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.759T>A	19.37:g.52619658A>T	ENSP00000471000:p.Asn253Lys					ZNF616_ENST00000330123.5_3'UTR	p.N253K	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	1020	-			253					B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	c.759T>A	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	a	0.006	-2.041610	0.00402	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.08	-2.15	0.07102	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07052	0.0179	N	0.01410	-0.885	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.11641	-1.0579	8	0.08381	T	0.77	.	0.9246	0.01322	0.2025:0.1651:0.1456:0.4868	.	253	Q08AN1	ZN616_HUMAN	K	253	.	ENSP00000328722:N253K	N	-	3	2	ZNF616	57311470	0.000000	0.05858	0.000000	0.03702	0.691000	0.40173	-5.576000	0.00112	-2.605000	0.00448	-2.595000	0.00163	AAT		0.398	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		8	72	0	0	0	0.058154	0	8	72				
NPHS2	7827	broad.mit.edu	37	1	179544754	179544754	+	Silent	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr1:179544754C>T	ENST00000367615.4	-	1	314	c.246G>A	c.(244-246)gcG>gcA	p.A82A	RNU5F-2P_ENST00000516066.1_RNA|NPHS2_ENST00000367616.4_Silent_p.A82A	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	82					actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249)	cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						TCTCCAACAGCGCCACCACCT	0.672																																						ENST00000367615.4																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						c.(244-246)gcG>gcA		nephrosis 2, idiopathic, steroid-resistant (podocin)							23.0	23.0	23.0					1																	179544754		2187	4274	6461	SO:0001819	synonymous_variant	7827				excretion	integral to plasma membrane	protein binding	g.chr1:179544754C>T	AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218			13394	protein-coding gene	gene with protein product		604766				8589695, 10742096	Standard	XM_005245483		Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.246G>A	1.37:g.179544754C>T						NPHS2_ENST00000367616.4_Silent_p.A82A	p.A82A	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN			1	314	-			82					B1AM32|B1AM33|Q8N6Q5	Silent	SNP	ENST00000367615.4	37	c.246G>A	CCDS1331.1																																																																																				0.672	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085283.1			7	15	0	0	0	0.029380	0	7	15				
TRHDE	29953	broad.mit.edu	37	12	72969274	72969274	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr12:72969274C>A	ENST00000261180.4	+	12	2234	c.2138C>A	c.(2137-2139)tCt>tAt	p.S713Y	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	713					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CAGGTTCTTTCTGTCAGTAAC	0.403																																						ENST00000261180.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(2137-2139)tCt>tAt		thyrotropin-releasing hormone degrading enzyme							107.0	105.0	106.0					12																	72969274		2203	4299	6502	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72969274C>A	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2138C>A	12.37:g.72969274C>A	ENSP00000261180:p.Ser713Tyr					TRHDE_ENST00000549138.1_3'UTR	p.S713Y	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			12	2234	+			713					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.2138C>A	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.853531	0.71719	.	.	ENSG00000072657	ENST00000261180	T	0.08102	3.13	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.33527	0.0866	M	0.84156	2.68	0.80722	D	1	D	0.71674	0.998	D	0.68943	0.961	T	0.11348	-1.0591	10	0.72032	D	0.01	.	19.18	0.93619	0.0:1.0:0.0:0.0	.	713	Q9UKU6	TRHDE_HUMAN	Y	713	ENSP00000261180:S713Y	ENSP00000261180:S713Y	S	+	2	0	TRHDE	71255541	1.000000	0.71417	1.000000	0.80357	0.634000	0.38068	6.965000	0.76067	2.601000	0.87937	0.563000	0.77884	TCT		0.403	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		14	30	1	0	3.27435e-08	0.119110	3.75186e-08	14	30				
NR2C2AP	126382	broad.mit.edu	37	19	19313662	19313662	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr19:19313662G>C	ENST00000331552.7	-	2	430	c.67C>G	c.(67-69)Cgg>Ggg	p.R23G	NR2C2AP_ENST00000544883.1_Missense_Mutation_p.R23G|NR2C2AP_ENST00000538165.2_Missense_Mutation_p.R23G|NR2C2AP_ENST00000420605.3_Missense_Mutation_p.R23G	NM_176880.4	NP_795361.1	Q86WQ0	NR2CA_HUMAN	nuclear receptor 2C2-associated protein	23					cell adhesion (GO:0007155)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|kidney(2)|ovary(1)	5			Epithelial(12;0.00235)			CCAAACTGCCGAGTGTTGCGA	0.577																																						ENST00000331552.6																			0				breast(1)|cervix(1)|kidney(2)|ovary(1)	5						c.(67-69)Cgg>Ggg		nuclear receptor 2C2-associated protein							104.0	97.0	100.0					19																	19313662		2203	4300	6503	SO:0001583	missense	126382				cell adhesion|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm		g.chr19:19313662G>C	AY101377	CCDS32967.1, CCDS74316.1	19p13.11	2008-01-10				ENSG00000184162			30763	protein-coding gene	gene with protein product	"""TR4 orphan receptor associated protein TRA16"""	608719				12486131	Standard	XM_005259740		Approved	TRA16	uc002nlx.3	Q86WQ0		ENST00000331552.7:c.67C>G	19.37:g.19313662G>C	ENSP00000332823:p.Arg23Gly					NR2C2AP_ENST00000538165.2_Missense_Mutation_p.R23G|NR2C2AP_ENST00000590907.2_Intron|NR2C2AP_ENST00000544883.1_Missense_Mutation_p.R23G|NR2C2AP_ENST00000420605.2_Missense_Mutation_p.R23G	p.R23G	NM_176880.4	NP_795361.1	Q86WQ0	NR2CA_HUMAN	Epithelial(12;0.00235)		2	430	-			23					A6NGP7|B4DW92	Missense_Mutation	SNP	ENST00000331552.7	37	c.67C>G	CCDS32967.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.614678	0.66672	.	.	ENSG00000184162	ENST00000331552;ENST00000420605;ENST00000544883	D;D	0.97888	-4.59;-4.59	4.08	-5.44	0.02624	Coagulation factor 5/8 C-terminal type domain (1);Galactose-binding domain-like (1);	0.056750	0.64402	D	0.000002	D	0.94518	0.8235	L	0.46157	1.445	0.23483	N	0.997583	P;P	0.48834	0.916;0.705	P;B	0.45946	0.498;0.327	D	0.90501	0.4474	10	0.72032	D	0.01	-41.3923	8.1724	0.31262	0.0909:0.0:0.2177:0.6915	.	23;23	B4DW92;Q86WQ0	.;NR2CA_HUMAN	G	23	ENSP00000332823:R23G;ENSP00000402756:R23G	ENSP00000332823:R23G	R	-	1	2	NR2C2AP	19174662	0.601000	0.26907	0.034000	0.17996	0.921000	0.55340	0.677000	0.25262	-0.528000	0.06366	0.462000	0.41574	CGG		0.577	NR2C2AP-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402936.4	NM_176880		12	41	0	0	0	0.105934	0	12	41				
SNTG2	54221	broad.mit.edu	37	2	1079296	1079296	+	Missense_Mutation	SNP	G	G	C	rs540106357		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:1079296G>C	ENST00000308624.5	+	2	294	c.165G>C	c.(163-165)caG>caC	p.Q55H	SNTG2_ENST00000407292.1_Missense_Mutation_p.Q55H	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	55					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TGACAATTCAGAAACAAGATG	0.498																																						ENST00000308624.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(163-165)caG>caC		syntrophin, gamma 2							119.0	118.0	118.0					2																	1079296		2003	4176	6179	SO:0001583	missense	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1079296G>C	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.165G>C	2.37:g.1079296G>C	ENSP00000311837:p.Gln55His					SNTG2_ENST00000407292.1_Missense_Mutation_p.Q55H	p.Q55H	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	2	294	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	55					Q05AH5	Missense_Mutation	SNP	ENST00000308624.5	37	c.165G>C	CCDS46220.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.669359	0.29693	.	.	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.54479	0.92;0.57	4.23	-3.24	0.05094	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	T	0.64853	0.2636	M	0.73962	2.25	0.20638	N	0.99987	D;D	0.71674	0.997;0.998	D;D	0.79784	0.987;0.993	T	0.61426	-0.7065	10	0.87932	D	0	.	9.7654	0.40557	0.6148:0.0:0.3852:0.0	.	55;55	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	H	55	ENSP00000311837:Q55H;ENSP00000385020:Q55H	ENSP00000311837:Q55H	Q	+	3	2	SNTG2	1069296	1.000000	0.71417	0.002000	0.10522	0.031000	0.12232	1.420000	0.34804	-1.089000	0.03073	0.591000	0.81541	CAG		0.498	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968		22	36	0	0	0	0.076483	0	22	36				
ZNF536	9745	broad.mit.edu	37	19	30935483	30935483	+	Silent	SNP	C	C	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr19:30935483C>A	ENST00000355537.3	+	2	1161	c.1014C>A	c.(1012-1014)ggC>ggA	p.G338G		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	338					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACGGCGGTGGCGAGCAGTCGG	0.652																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(1012-1014)ggC>ggA		zinc finger protein 536							81.0	93.0	89.0					19																	30935483		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935483C>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1014C>A	19.37:g.30935483C>A							p.G338G	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	1161	+	Esophageal squamous(110;0.0834)		338					A2RU18	Silent	SNP	ENST00000355537.3	37	c.1014C>A	CCDS32984.1																																																																																				0.652	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		8	77	1	0	5.18039e-06	0.038147	5.62345e-06	8	77				
KIF4B	285643	broad.mit.edu	37	5	154395571	154395571	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr5:154395571C>T	ENST00000435029.4	+	1	2312	c.2152C>T	c.(2152-2154)Ctc>Ttc	p.L718F		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	718	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAAGGATGCTCTCCAGAAACA	0.473																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(2152-2154)Ctc>Ttc		kinesin family member 4B							91.0	92.0	92.0					5																	154395571		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154395571C>T	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2152C>T	5.37:g.154395571C>T	ENSP00000387875:p.Leu718Phe						p.L718F	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	2312	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	718			Interaction with PRC1 (By similarity).			Missense_Mutation	SNP	ENST00000435029.4	37	c.2152C>T	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	c	14.21	2.467379	0.43839	.	.	ENSG00000226650	ENST00000435029	T	0.73469	-0.75	2.54	2.54	0.30619	.	.	.	.	.	D	0.83575	0.5284	M	0.85859	2.78	0.53688	D	0.999975	D	0.89917	1.0	D	0.91635	0.999	T	0.81132	-0.1072	9	0.40728	T	0.16	.	5.5813	0.17250	0.0:0.8301:0.0:0.1699	.	718	Q2VIQ3	KIF4B_HUMAN	F	718	ENSP00000387875:L718F	ENSP00000387875:L718F	L	+	1	0	KIF4B	154375764	0.975000	0.34042	0.997000	0.53966	0.918000	0.54935	0.685000	0.25378	1.138000	0.42230	0.563000	0.77884	CTC		0.473	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			13	33	0	0	0	0.093190	0	13	33				
CASP4	837	broad.mit.edu	37	11	104820329	104820329	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr11:104820329C>T	ENST00000444739.2	-	5	1632	c.722G>A	c.(721-723)cGc>cAc	p.R241H	CASP4_ENST00000393150.3_Missense_Mutation_p.R185H|CASP4_ENST00000531333.1_5'Flank	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	241					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|IPAF inflammasome complex (GO:0072557)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activity (GO:0004197)	p.R241H(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		GAGGCAGTTGCGGTTGTTGAA	0.473																																						ENST00000444739.2																			1	Substitution - Missense(1)	p.R241H(1)	central_nervous_system(1)	central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23						c.(721-723)cGc>cAc		caspase 4, apoptosis-related cysteine peptidase							271.0	222.0	238.0					11																	104820329		2202	4299	6501	SO:0001583	missense	837				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104820329C>T	U25804	CCDS8327.1, CCDS41704.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000196954	ENSG00000196954		"""Caspases"""	1505	protein-coding gene	gene with protein product		602664	"""caspase 4, apoptosis-related cysteine protease"""			7797510, 9250871	Standard	NM_001225		Approved	ICE(rel)II, ICH-2, TX	uc001pid.1	P49662	OTTHUMG00000166078	ENST00000444739.2:c.722G>A	11.37:g.104820329C>T	ENSP00000388566:p.Arg241His					CASP4_ENST00000393150.3_Missense_Mutation_p.R185H	p.R241H	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)	5	1632	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	241					A2NHL8|A2NHM0	Missense_Mutation	SNP	ENST00000444739.2	37	c.722G>A	CCDS8327.1	.	.	.	.	.	.	.	.	.	.	C	5.980	0.364831	0.11296	.	.	ENSG00000196954	ENST00000444739;ENST00000393150;ENST00000355546	T;T	0.20738	2.05;2.05	4.57	3.61	0.41365	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.546780	0.19487	N	0.113081	T	0.21801	0.0525	M	0.66506	2.035	0.09310	N	1	B;B	0.24533	0.07;0.105	B;B	0.24269	0.052;0.051	T	0.09509	-1.0671	10	0.48119	T	0.1	.	7.9255	0.29872	0.178:0.6492:0.1728:0.0	.	241;241	B4E2D2;P49662	.;CASP4_HUMAN	H	241;185;194	ENSP00000388566:R241H;ENSP00000376857:R185H	ENSP00000347741:R194H	R	-	2	0	CASP4	104325539	0.000000	0.05858	0.634000	0.29324	0.120000	0.20174	-0.320000	0.08028	2.358000	0.79984	0.650000	0.86243	CGC		0.473	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387751.1	NM_001225		14	77	0	0	0	0.119110	0	14	77				
FAT4	79633	broad.mit.edu	37	4	126241794	126241794	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr4:126241794G>A	ENST00000394329.3	+	1	4241	c.4228G>A	c.(4228-4230)Gtg>Atg	p.V1410M		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1410	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V1410M(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGTTATTCACGTGAGGGACTT	0.383																																						ENST00000394329.3																			2	Substitution - Missense(2)	p.V1410M(2)	prostate(2)	NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(4228-4230)Gtg>Atg		FAT atypical cadherin 4							143.0	133.0	136.0					4																	126241794		1857	4093	5950	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126241794G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.4228G>A	4.37:g.126241794G>A	ENSP00000377862:p.Val1410Met						p.V1410M	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	4241	+			1410			Cadherin 13.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.4228G>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321031	0.81580	.	.	ENSG00000196159	ENST00000394329	T	0.68181	-0.31	4.87	4.87	0.63330	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.31233	U	0.008001	D	0.85561	0.5725	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.89030	0.3441	10	0.87932	D	0	.	18.1883	0.89799	0.0:0.0:1.0:0.0	.	1410	Q6V0I7	FAT4_HUMAN	M	1410	ENSP00000377862:V1410M	ENSP00000377862:V1410M	V	+	1	0	FAT4	126461244	1.000000	0.71417	0.952000	0.39060	0.996000	0.88848	9.454000	0.97621	2.535000	0.85469	0.655000	0.94253	GTG		0.383	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		25	100	0	0	0	0.099896	0	25	100				
NEGR1	257194	broad.mit.edu	37	1	72400876	72400876	+	Silent	SNP	T	T	G			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr1:72400876T>G	ENST00000357731.5	-	2	534	c.295A>C	c.(295-297)Agg>Cgg	p.R99R	NEGR1_ENST00000306821.3_5'UTR|NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000434200.1_Silent_p.R97R	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	99	Ig-like C2-type 1.				feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		CTGTAGTCCCTTTTATTCAAT	0.453																																						ENST00000357731.4																			0				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(295-297)Agg>Cgg		neuronal growth regulator 1							115.0	109.0	111.0					1																	72400876		2203	4300	6503	SO:0001819	synonymous_variant	257194				cell adhesion	anchored to membrane|plasma membrane		g.chr1:72400876T>G	AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"""Immunoglobulin superfamily / I-set domain containing"""	17302	protein-coding gene	gene with protein product	"""a kindred of IgLON"", ""neurotractin"", ""IgLON family member 4"""	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.295A>C	1.37:g.72400876T>G						NEGR1_ENST00000434200.1_Silent_p.R97R|NEGR1_ENST00000306821.3_5'UTR|NEGR1_ENST00000467479.1_5'UTR	p.R99R	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)	2	534	-		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)	99			Ig-like C2-type 1.		Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Silent	SNP	ENST00000357731.5	37	c.295A>C	CCDS661.1																																																																																				0.453	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	NM_173808		16	60	0	0	0	0.132662	0	16	60				
PCDH17	27253	broad.mit.edu	37	13	58207860	58207860	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr13:58207860G>A	ENST00000377918.3	+	1	1206	c.1180G>A	c.(1180-1182)Gga>Aga	p.G394R		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	394	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.|Gly-rich.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GGTCCTAGGCGGAGGAGGGAc	0.692																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(1180-1182)Gga>Aga		protocadherin 17							7.0	8.0	8.0					13																	58207860		1918	3950	5868	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58207860G>A	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1180G>A	13.37:g.58207860G>A	ENSP00000367151:p.Gly394Arg						p.G394R	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	1206	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	394			Cadherin 4.|Gly-rich.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.1180G>A	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.549892	0.27652	.	.	ENSG00000118946	ENST00000377918	T	0.57107	0.42	5.46	5.46	0.80206	Cadherin (4);Cadherin-like (1);	0.098040	0.45126	N	0.000391	T	0.51312	0.1667	L	0.51914	1.62	0.35123	D	0.767252	P;P	0.46020	0.844;0.871	B;P	0.45428	0.348;0.48	T	0.62487	-0.6844	9	.	.	.	.	12.8452	0.57825	0.0776:0.0:0.9224:0.0	.	394;394	O14917-2;O14917	.;PCD17_HUMAN	R	394	ENSP00000367151:G394R	.	G	+	1	0	PCDH17	57105861	1.000000	0.71417	1.000000	0.80357	0.485000	0.33311	5.129000	0.64739	2.588000	0.87417	0.650000	0.86243	GGA		0.692	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		4	6	0	0	0	0.150653	0	4	6				
HUWE1	10075	broad.mit.edu	37	X	53620464	53620464	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chrX:53620464C>T	ENST00000342160.3	-	31	4058	c.3601G>A	c.(3601-3603)Gcc>Acc	p.A1201T	HUWE1_ENST00000262854.6_Missense_Mutation_p.A1201T|HUWE1_ENST00000218328.8_Missense_Mutation_p.A1201T			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1201					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATAAGCCAGGCATCTAGGAAT	0.507																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(3601-3603)Gcc>Acc		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							101.0	80.0	87.0					X																	53620464		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53620464C>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.3601G>A	X.37:g.53620464C>T	ENSP00000340648:p.Ala1201Thr					HUWE1_ENST00000262854.6_Missense_Mutation_p.A1201T|HUWE1_ENST00000218328.8_Missense_Mutation_p.A1201T	p.A1201T			Q7Z6Z7	HUWE1_HUMAN			31	4058	-			1201					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.3601G>A	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.255515|5.255515	0.95336|0.95336	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328|ENST00000427052	T;T;T|.	0.53857|.	0.74;0.74;0.6|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74635|0.74635	0.3742|0.3742	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	D;D|.	0.67145|.	0.993;0.996|.	P;P|.	0.61874|.	0.787;0.895|.	T|T	0.74598|0.74598	-0.3612|-0.3612	10|5	0.72032|.	D|.	0.01|.	.|.	17.0364|17.0364	0.86477|0.86477	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1201;1201|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	T|Y	1201|234	ENSP00000340648:A1201T;ENSP00000262854:A1201T;ENSP00000218328:A1201T|.	ENSP00000218328:A1201T|.	A|C	-|-	1|2	0|0	HUWE1|HUWE1	53637189|53637189	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	7.545000|7.545000	0.82128|0.82128	2.286000|2.286000	0.76751|0.76751	0.436000|0.436000	0.28706|0.28706	GCC|TGC		0.507	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		3	27	0	0	0	0.115264	0	3	27				
POTEC	388468	broad.mit.edu	37	18	14534921	14534921	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr18:14534921T>A	ENST00000358970.5	-	4	895	c.896A>T	c.(895-897)aAt>aTt	p.N299I	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	299										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						ATCAAGTGCATTTAAATTAGC	0.308																																						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.(895-897)aAt>aTt		POTE ankyrin domain family, member C							38.0	35.0	36.0					18																	14534921		692	1575	2267	SO:0001583	missense	388468							g.chr18:14534921T>A	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.896A>T	18.37:g.14534921T>A	ENSP00000351856:p.Asn299Ile					POTEC_ENST00000389891.4_5'UTR	p.N299I	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			4	895	-			299						Missense_Mutation	SNP	ENST00000358970.5	37	c.896A>T	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	T	12.63	1.994642	0.35226	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.63417	-0.04	1.73	-1.17	0.09648	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.65923	0.2738	M	0.80183	2.485	0.09310	N	1	P	0.51933	0.949	P	0.52386	0.697	T	0.57745	-0.7758	9	0.87932	D	0	.	1.6031	0.02679	0.2967:0.2012:0.0:0.5022	.	299	B2RU33	POTEC_HUMAN	I	299	ENSP00000351856:N299I	ENSP00000351856:N299I	N	-	2	0	POTEC	14524921	0.000000	0.05858	0.000000	0.03702	0.144000	0.21451	-0.190000	0.09615	-0.269000	0.09298	0.163000	0.16589	AAT		0.308	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		6	54	0	0	0	0.058154	0	6	54				
DPP10	57628	broad.mit.edu	37	2	116535403	116535403	+	Missense_Mutation	SNP	C	C	A	rs370987489		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:116535403C>A	ENST00000410059.1	+	15	1834	c.1354C>A	c.(1354-1356)Ctg>Atg	p.L452M	DPP10_ENST00000310323.8_Missense_Mutation_p.L445M|DPP10_ENST00000393147.2_Missense_Mutation_p.L456M|DPP10_ENST00000409163.1_Missense_Mutation_p.L402M	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	452						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGGAAGGCAGCTGTACAGGTA	0.403																																						ENST00000410059.1																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(1354-1356)Ctg>Atg		dipeptidyl-peptidase 10 (non-functional)							152.0	135.0	141.0					2																	116535403		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116535403C>A	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1354C>A	2.37:g.116535403C>A	ENSP00000386565:p.Leu452Met					DPP10_ENST00000409163.1_Missense_Mutation_p.L402M|DPP10_ENST00000310323.8_Missense_Mutation_p.L445M|DPP10_ENST00000393147.2_Missense_Mutation_p.L456M	p.L452M	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			15	1834	+			452					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.1354C>A	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.594966	0.66219	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.34	3.54	0.40534	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.64402	D	0.000002	T	0.68155	0.2970	M	0.91459	3.21	0.52099	D	0.99994	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;D;D	0.97110	0.992;1.0;0.995;0.995	T	0.71407	-0.4602	10	0.87932	D	0	-31.3092	9.5784	0.39472	0.0:0.8275:0.0:0.1725	.	445;456;448;452	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	M	452;402;456;445;402	ENSP00000386565:L452M;ENSP00000387038:L402M;ENSP00000376855:L456M;ENSP00000309066:L445M	ENSP00000309066:L445M	L	+	1	2	DPP10	116251873	0.994000	0.37717	1.000000	0.80357	0.988000	0.76386	1.345000	0.33953	0.629000	0.30376	0.579000	0.79373	CTG		0.403	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		17	41	1	0	1.00905e-13	0.204396	1.19779e-13	17	41				
C3orf30	152405	broad.mit.edu	37	3	118865966	118865966	+	Silent	SNP	G	G	C			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr3:118865966G>C	ENST00000295622.1	+	1	970	c.930G>C	c.(928-930)gtG>gtC	p.V310V	IGSF11_ENST00000425327.2_5'Flank|RP11-484M3.5_ENST00000490594.1_5'Flank|IGSF11_ENST00000354673.2_5'Flank|IGSF11_ENST00000441144.2_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	310										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		ACCACCAAGTGTACGGCCAAG	0.493																																						ENST00000295622.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34						c.(928-930)gtG>gtC		chromosome 3 open reading frame 30							85.0	74.0	78.0					3																	118865966		2203	4300	6503	SO:0001819	synonymous_variant	152405							g.chr3:118865966G>C	AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.930G>C	3.37:g.118865966G>C							p.V310V	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	1	970	+			310					A1L4B7	Silent	SNP	ENST00000295622.1	37	c.930G>C	CCDS2984.1	.	.	.	.	.	.	.	.	.	.	G	3.420	-0.118424	0.06838	.	.	ENSG00000163424	ENST00000460150;ENST00000473121;ENST00000492792	T;T;T	0.38401	1.85;1.14;1.38	3.02	-6.04	0.02178	.	6.293900	0.00166	N	0.000000	T	0.22282	0.0537	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.09443	-1.0674	7	0.28530	T	0.3	7.4236	5.2589	0.15561	0.5842:0.0:0.1517:0.2641	.	.	.	.	L	274;103;45	ENSP00000418207:V274L;ENSP00000419675:V103L;ENSP00000419083:V45L	ENSP00000418207:V274L	V	+	1	0	C3orf30	120348656	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-0.831000	0.04405	-1.927000	0.01060	0.467000	0.42956	GTA		0.493	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1	NM_152539		7	33	0	0	0	0.038147	0	7	33				
SNRNP200	23020	broad.mit.edu	37	2	96942823	96942823	+	Missense_Mutation	SNP	G	G	A	rs150442718		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:96942823G>A	ENST00000323853.5	-	42	6165	c.6088C>T	c.(6088-6090)Cgc>Tgc	p.R2030C	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	2030	SEC63 2.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GCTCACCTGCGGATGCTGTCC	0.552																																						ENST00000323853.5																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						c.(6088-6090)Cgc>Tgc		small nuclear ribonucleoprotein 200kDa (U5)		G	CYS/ARG	0,4406		0,0,2203	103.0	97.0	99.0		6088	4.9	1.0	2	dbSNP_134	99	1,8599	1.2+/-3.3	0,1,4299	no	missense	SNRNP200	NM_014014.4	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	2030/2137	96942823	1,13005	2203	4300	6503	SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96942823G>A	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.6088C>T	2.37:g.96942823G>A	ENSP00000317123:p.Arg2030Cys					SNRNP200_ENST00000349783.5_Intron	p.R2030C	NM_014014.4	NP_054733.2	O75643	U520_HUMAN			42	6165	-			2030			SEC63 2.		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.6088C>T	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.848690	0.71603	0.0	1.16E-4	ENSG00000144028	ENST00000323853;ENST00000536601;ENST00000543553	T	0.55052	0.54	4.89	4.89	0.63831	Sec63 domain (3);	0.053999	0.64402	D	0.000002	T	0.44201	0.1282	L	0.41710	1.295	0.80722	D	1	B	0.14012	0.009	B	0.10450	0.005	T	0.38023	-0.9680	10	0.54805	T	0.06	.	12.4325	0.55581	0.0:0.0:0.8319:0.168	.	2030	O75643	U520_HUMAN	C	2030;489;613	ENSP00000317123:R2030C	ENSP00000317123:R2030C	R	-	1	0	SNRNP200	96306550	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.357000	0.66058	2.704000	0.92352	0.563000	0.77884	CGC		0.552	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		9	71	0	0	0	0.058154	0	9	71				
GGT3P	2679	broad.mit.edu	37	22	18778602	18778602	+	RNA	SNP	G	G	A	rs4619710		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr22:18778602G>A	ENST00000412448.1	-	0	803							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										CTTGGCATCCGCGGCCACGGC	0.627																																						ENST00000412448.1																			0																																																			2679							g.chr22:18778602G>A			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18778602G>A														0	803	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.627	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		4	16	0	0	0	0.150653	0	4	16				
SLC4A8	9498	broad.mit.edu	37	12	51855040	51855040	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr12:51855040A>T	ENST00000453097.2	+	9	1283	c.1066A>T	c.(1066-1068)Att>Ttt	p.I356F	SLC4A8_ENST00000394856.1_Missense_Mutation_p.I303F|SLC4A8_ENST00000358657.3_Missense_Mutation_p.I383F|SLC4A8_ENST00000514353.3_Missense_Mutation_p.I303F|SLC4A8_ENST00000535225.2_Missense_Mutation_p.I303F	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GTACCATGAGATTGGCAGATC	0.378																																						ENST00000453097.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55						c.(1066-1068)Att>Ttt		solute carrier family 4, sodium bicarbonate cotransporter, member 8							153.0	138.0	143.0					12																	51855040		2203	4300	6503	SO:0001583	missense	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51855040A>T	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.1066A>T	12.37:g.51855040A>T	ENSP00000405812:p.Ile356Phe					SLC4A8_ENST00000535225.2_Missense_Mutation_p.I303F|SLC4A8_ENST00000514353.3_Missense_Mutation_p.I303F|SLC4A8_ENST00000394856.1_Missense_Mutation_p.I303F|SLC4A8_ENST00000358657.3_Missense_Mutation_p.I383F	p.I356F	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	9	1283	+			356						Missense_Mutation	SNP	ENST00000453097.2	37	c.1066A>T	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	A	32	5.149881	0.94645	.	.	ENSG00000050438	ENST00000535225;ENST00000358657;ENST00000453097;ENST00000394856;ENST00000319957;ENST00000514353;ENST00000547697;ENST00000551071	T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57	5.85	5.85	0.93711	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.88492	0.6451	H	0.94658	3.565	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;0.999;1.0;0.988;0.995;0.985;1.0	D;D;D;D;D;D;D	0.91635	0.996;0.986;0.999;0.992;0.994;0.986;0.999	D	0.91466	0.5193	10	0.87932	D	0	.	15.5289	0.75936	1.0:0.0:0.0:0.0	.	303;383;303;356;356;356;303	E7EML0;Q2Y0W8-2;F5GZ31;Q2Y0W8;Q2Y0W8-3;Q2Y0W8-6;F8VSA8	.;.;.;S4A8_HUMAN;.;.;.	F	303;383;356;303;356;303;303;303	ENSP00000441520:I303F;ENSP00000351483:I383F;ENSP00000405812:I356F;ENSP00000378325:I303F;ENSP00000442561:I303F	ENSP00000315789:I356F	I	+	1	0	SLC4A8	50141307	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	ATT		0.378	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		7	23	0	0	0	0.058154	0	7	23				
ITGB2	3689	broad.mit.edu	37	21	46320235	46320235	+	Splice_Site	SNP	G	G	A	rs150327269		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr21:46320235G>A	ENST00000397850.2	-	8	1349	c.897C>T	c.(895-897)ttC>ttT	p.F299F	ITGB2_ENST00000397854.3_Splice_Site_p.F242F|ITGB2_ENST00000302347.5_Splice_Site_p.F299F|ITGB2_ENST00000397852.1_Splice_Site_p.F299F|ITGB2_ENST00000397857.1_Splice_Site_p.F299F|ITGB2_ENST00000355153.4_Splice_Site_p.F299F			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	299	VWFA.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GGGGACTTACGAATTCGTTGC	0.637																																						ENST00000397850.2																			0				breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35						c.e8+1		integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	Simvastatin(DB00641)	G	,	1,4405	2.1+/-5.4	0,1,2202	120.0	94.0	103.0		897,897	-7.0	0.4	21	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	ITGB2	NM_000211.3,NM_001127491.1	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	299/770,299/770	46320235	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46320235G>A	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.897+1C>T	21.37:g.46320235G>A						ITGB2_ENST00000397854.3_Splice_Site_p.F242_splice|ITGB2_ENST00000397857.1_Splice_Site_p.F299_splice|ITGB2_ENST00000302347.5_Splice_Site_p.F299_splice|ITGB2_ENST00000397852.1_Splice_Site_p.F299_splice|ITGB2_ENST00000355153.4_Splice_Site_p.F299_splice	p.F299_splice			P05107	ITB2_HUMAN		Colorectal(79;0.0669)	8	1349	-			299			VWFA.		B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Splice_Site	SNP	ENST00000397850.2	37	c.897_splice	CCDS13716.1																																																																																				0.637	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211	Silent	7	29	0	0	0	0.038147	0	7	29				
EBAG9	9166	broad.mit.edu	37	8	110575682	110575682	+	Intron	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr8:110575682C>T	ENST00000337573.5	+	7	821				EBAG9_ENST00000531677.1_Missense_Mutation_p.T193I|EBAG9_ENST00000395785.2_Intron	NM_001278938.1|NM_004215.3	NP_001265867.1|NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9						regulation of cell growth (GO:0001558)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	peptidase activator activity involved in apoptotic process (GO:0016505)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			CCCACTCCTACCTCCACTCCC	0.428																																						ENST00000531677.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10						c.(577-579)aCc>aTc		estrogen receptor binding site associated, antigen, 9							434.0	396.0	407.0					8																	110575682		876	1991	2867	SO:0001627	intron_variant	9166				apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity	g.chr8:110575682C>T	AB007619	CCDS6313.1	8q23	2013-03-07			ENSG00000147654	ENSG00000147654			3123	protein-coding gene	gene with protein product		605772					Standard	NM_004215		Approved	EB9, RCAS1	uc003ynf.3	O00559	OTTHUMG00000165346	ENST00000337573.5:c.522-986C>T	8.37:g.110575682C>T						EBAG9_ENST00000395785.2_Intron|EBAG9_ENST00000337573.5_Intron	p.T193I			O00559	RCAS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)		6	578	+			174					A8K3N6|Q5Y8C7|Q6IB20|Q9BS76	Missense_Mutation	SNP	ENST00000337573.5	37	c.578C>T	CCDS6313.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.013802	0.35511	.	.	ENSG00000147654	ENST00000531677	.	.	.	2.89	-1.53	0.08611	.	1.636230	0.03470	N	0.213478	T	0.33469	0.0864	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27773	-1.0064	6	0.52906	T	0.07	4.3819	3.5762	0.07936	0.0:0.3273:0.2181:0.4546	.	.	.	.	I	193	.	ENSP00000432082:T193I	T	+	2	0	EBAG9	110644858	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.757000	0.04772	-0.364000	0.08088	-0.150000	0.13652	ACC		0.428	EBAG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383536.1	NM_004215		47	138	0	0	0	0.139131	0	47	138				
LAMP5	24141	broad.mit.edu	37	20	9510385	9510385	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr20:9510385C>T	ENST00000246070.2	+	6	1253	c.761C>T	c.(760-762)gCg>gTg	p.A254V	LAMP5_ENST00000427562.2_Missense_Mutation_p.A210V	NM_012261.3	NP_036393.1	Q9UJQ1	LAMP5_HUMAN	lysosomal-associated membrane protein family, member 5	254						cytoplasmic vesicle membrane (GO:0030659)|dendrite membrane (GO:0032590)|early endosome membrane (GO:0031901)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|endosome membrane (GO:0010008)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)		p.A254V(1)									GTAACACTCGCGATTTACCAC	0.547																																						ENST00000246070.2																			1	Substitution - Missense(1)	p.A254V(1)	upper_aerodigestive_tract(1)								c.(760-762)gCg>gTg		lysosomal-associated membrane protein family, member 5							133.0	106.0	115.0					20																	9510385		2203	4300	6503	SO:0001583	missense	24141					integral to membrane		g.chr20:9510385C>T	AL121740	CCDS13106.1, CCDS56177.1	20p12	2013-03-14	2011-11-25	2011-11-25	ENSG00000125869	ENSG00000125869			16097	protein-coding gene	gene with protein product	"""brain and dendritic cell associated LAMP"""	614641	"""chromosome 20 open reading frame 103"""	C20orf103		11780052, 21642595	Standard	NM_012261		Approved	dJ1119D9.3, BAD-LAMP, UNC-43	uc002wni.2	Q9UJQ1	OTTHUMG00000031851	ENST00000246070.2:c.761C>T	20.37:g.9510385C>T	ENSP00000246070:p.Ala254Val					LAMP5_ENST00000427562.2_Missense_Mutation_p.A210V	p.A254V	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN			6	1253	+			254					B4DHZ7|B7Z9Z9	Missense_Mutation	SNP	ENST00000246070.2	37	c.761C>T	CCDS13106.1	.	.	.	.	.	.	.	.	.	.	C	7.959	0.746511	0.15710	.	.	ENSG00000125869	ENST00000246070;ENST00000427562	T;T	0.28069	1.63;1.63	6.16	-0.0513	0.13827	.	0.573102	0.19435	N	0.114333	T	0.14184	0.0343	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.002;0.003	T	0.26395	-1.0104	9	.	.	.	-0.8618	7.427	0.27105	0.0:0.4545:0.136:0.4095	.	210;254	Q9UJQ1-2;Q9UJQ1	.;CT103_HUMAN	V	254;210	ENSP00000246070:A254V;ENSP00000406360:A210V	.	A	+	2	0	C20orf103	9458385	0.145000	0.22656	0.000000	0.03702	0.296000	0.27459	2.345000	0.44018	-0.291000	0.09012	0.650000	0.86243	GCG		0.547	LAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077946.2	NM_012261		7	39	0	0	0	0.038147	0	7	39				
OSBPL8	114882	broad.mit.edu	37	12	76763056	76763056	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr12:76763056C>T	ENST00000261183.3	-	21	2745	c.2266G>A	c.(2266-2268)Gat>Aat	p.D756N	OSBPL8_ENST00000393249.2_Missense_Mutation_p.D714N|OSBPL8_ENST00000393250.4_Missense_Mutation_p.D714N	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	756					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TGTATCATATCATTAAGTGGG	0.303																																						ENST00000261183.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						c.(2266-2268)Gat>Aat		oxysterol binding protein-like 8							112.0	100.0	104.0					12																	76763056		2202	4297	6499	SO:0001583	missense	114882				lipid transport		lipid binding	g.chr12:76763056C>T	AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.2266G>A	12.37:g.76763056C>T	ENSP00000261183:p.Asp756Asn					OSBPL8_ENST00000393249.2_Missense_Mutation_p.D714N|OSBPL8_ENST00000393250.4_Missense_Mutation_p.D714N	p.D756N	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN			21	2745	-			756					A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP	ENST00000261183.3	37	c.2266G>A	CCDS31862.1	.	.	.	.	.	.	.	.	.	.	C	31	5.078627	0.94050	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250	T;T;T	0.32272	1.46;1.46;1.46	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.64594	0.2612	M	0.89601	3.045	0.58432	D	0.999999	D	0.65815	0.995	D	0.67382	0.951	T	0.71869	-0.4462	10	0.87932	D	0	-20.6516	19.6445	0.95771	0.0:1.0:0.0:0.0	.	756	Q9BZF1	OSBL8_HUMAN	N	714;756;741;714	ENSP00000376939:D714N;ENSP00000261183:D756N;ENSP00000376940:D714N	ENSP00000261183:D756N	D	-	1	0	OSBPL8	75287187	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.350000	0.52224	2.637000	0.89404	0.563000	0.77884	GAT		0.303	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	NM_020841		8	42	0	0	0	0.069234	0	8	42				
ARHGAP35	2909	broad.mit.edu	37	19	47491269	47491269	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr19:47491269C>T	ENST00000404338.3	+	3	3850	c.3850C>T	c.(3850-3852)Cgg>Tgg	p.R1284W		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1284	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										AGGCATCTACCGGGTCAGCGG	0.572																																						ENST00000404338.3																			0											c.(3850-3852)Cgg>Tgg		Rho GTPase activating protein 35							69.0	74.0	72.0					19																	47491269		2180	4291	6471	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47491269C>T	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.3850C>T	19.37:g.47491269C>T	ENSP00000385720:p.Arg1284Trp						p.R1284W	NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN			3	3850	+			1284			Rho-GAP.		A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.3850C>T	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.722281	0.68959	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.52754	0.65	5.42	3.08	0.35506	.	0.000000	0.85682	D	0.000000	T	0.80654	0.4664	H	0.99042	4.41	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	D	0.89099	0.3488	10	0.87932	D	0	-25.4182	15.0332	0.71723	0.2684:0.7315:0.0:0.0	.	1284	Q9NRY4-2	.	W	1284	ENSP00000385720:R1284W	ENSP00000324820:R1284W	R	+	1	2	ARHGAP35	52183109	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	2.156000	0.42310	1.295000	0.44724	-0.152000	0.13540	CGG		0.572	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		4	15	0	0	0	0.217242	0	4	15				
DOK6	220164	broad.mit.edu	37	18	67266711	67266711	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr18:67266711C>T	ENST00000382713.5	+	3	456	c.266C>T	c.(265-267)tCg>tTg	p.S89L	RP11-465I4.2_ENST00000583991.1_RNA	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	89	PH.									central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GATGAAACATCGAAGACATTT	0.448																																						ENST00000382713.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20						c.(265-267)tCg>tTg		docking protein 6							101.0	78.0	86.0					18																	67266711		2203	4300	6503	SO:0001583	missense	220164						insulin receptor binding	g.chr18:67266711C>T	AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"""Pleckstrin homology (PH) domain containing"""	28301	protein-coding gene	gene with protein product		611402	"""docking protein 5-like"""	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.266C>T	18.37:g.67266711C>T	ENSP00000372160:p.Ser89Leu					RP11-465I4.2_ENST00000583991.1_RNA	p.S89L	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN			3	456	+		Colorectal(73;0.083)|Esophageal squamous(42;0.131)	89			PH.		A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Missense_Mutation	SNP	ENST00000382713.5	37	c.266C>T	CCDS32841.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.763544	0.69878	.	.	ENSG00000206052	ENST00000382713	T	0.78924	-1.22	5.91	5.91	0.95273	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.77903	0.4200	L	0.47716	1.5	0.80722	D	1	D	0.57899	0.981	P	0.47786	0.557	T	0.74538	-0.3632	10	0.27785	T	0.31	-2.6428	19.2865	0.94077	0.0:1.0:0.0:0.0	.	89	Q6PKX4	DOK6_HUMAN	L	89	ENSP00000372160:S89L	ENSP00000372160:S89L	S	+	2	0	DOK6	65417691	1.000000	0.71417	0.262000	0.24481	0.116000	0.19942	7.786000	0.85741	2.802000	0.96397	0.655000	0.94253	TCG		0.448	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442969.1	NM_152721		8	29	0	0	0	0.047766	0	8	29				
USP51	158880	broad.mit.edu	37	X	55513554	55513554	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chrX:55513554G>A	ENST00000500968.3	-	2	1901	c.1819C>T	c.(1819-1821)Cga>Tga	p.R607*	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	607	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						TTAATCTTTCGCCTCTGTTTG	0.443																																						ENST00000500968.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						c.(1819-1821)Cga>Tga		ubiquitin specific peptidase 51							64.0	56.0	59.0					X																	55513554		2203	4300	6503	SO:0001587	stop_gained	158880				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chrX:55513554G>A	BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"""Ubiquitin-specific peptidases"""	23086	protein-coding gene	gene with protein product			"""ubiquitin specific protease 51"""			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.1819C>T	X.37:g.55513554G>A	ENSP00000423333:p.Arg607*					USP51_ENST00000586165.1_5'UTR	p.R607*	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN			2	1901	-			607					Q8IWJ8	Nonsense_Mutation	SNP	ENST00000500968.3	37	c.1819C>T	CCDS14370.1	.	.	.	.	.	.	.	.	.	.	.	36	5.736143	0.96865	.	.	ENSG00000247746	ENST00000500968	.	.	.	2.96	2.07	0.26955	.	0.071633	0.56097	U	0.000029	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.0764	0.25207	0.0:0.0:0.513:0.487	.	.	.	.	X	607	.	ENSP00000423333:R607X	R	-	1	2	USP51	55530279	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	1.497000	0.35649	0.636000	0.30508	0.455000	0.32223	CGA		0.443	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	NM_201286		3	45	0	0	0	0.115264	0	3	45				
BAI2	576	broad.mit.edu	37	1	32193839	32193839	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr1:32193839C>T	ENST00000373658.3	-	31	4800	c.4459G>A	c.(4459-4461)Gag>Aag	p.E1487K	BAI2_ENST00000527361.1_Missense_Mutation_p.E1453K|BAI2_ENST00000398556.3_Missense_Mutation_p.E1402K|BAI2_ENST00000398538.1_Missense_Mutation_p.E1475K|BAI2_ENST00000398547.1_Missense_Mutation_p.E1420K|BAI2_ENST00000440175.2_Missense_Mutation_p.E1096K|BAI2_ENST00000373655.2_Missense_Mutation_p.E1486K|BAI2_ENST00000398542.1_Missense_Mutation_p.E1387K|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000257070.4_Missense_Mutation_p.E1453K	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1487					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TGGTTGAGCTCGTGGTAGAGT	0.637																																						ENST00000373658.3																			0				breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55						c.(4459-4461)Gag>Aag		brain-specific angiogenesis inhibitor 2							96.0	92.0	93.0					1																	32193839		2203	4300	6503	SO:0001583	missense	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32193839C>T	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.4459G>A	1.37:g.32193839C>T	ENSP00000362762:p.Glu1487Lys					BAI2_ENST00000440175.2_Missense_Mutation_p.E1096K|BAI2_ENST00000398547.1_Missense_Mutation_p.E1420K|BAI2_ENST00000398556.3_Missense_Mutation_p.E1402K|BAI2_ENST00000257070.4_Missense_Mutation_p.E1453K|BAI2_ENST00000398542.1_Missense_Mutation_p.E1387K|BAI2_ENST00000373655.2_Missense_Mutation_p.E1486K|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000527361.1_Missense_Mutation_p.E1453K|BAI2_ENST00000398538.1_Missense_Mutation_p.E1475K	p.E1487K	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	31	4800	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	1487					B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	c.4459G>A	CCDS346.2	.	.	.	.	.	.	.	.	.	.	C	35	5.590471	0.96590	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538	T;T;T;T;T;T;T;T;T	0.08193	3.12;3.12;3.12;3.12;3.12;3.12;3.12;3.12;3.12	5.19	5.19	0.71726	.	0.000000	0.40908	D	0.000997	T	0.18635	0.0447	L	0.55990	1.75	0.58432	D	0.999994	D;D;P;D;D;D;D	0.60575	0.988;0.983;0.92;0.971;0.988;0.971;0.971	P;P;P;P;P;P;P	0.51701	0.677;0.66;0.459;0.459;0.677;0.459;0.459	T	0.00206	-1.1921	10	0.72032	D	0.01	.	18.6842	0.91558	0.0:1.0:0.0:0.0	.	1453;1475;1096;1402;1486;1487;1475	O60241-4;O60241-3;B4DKC3;A2A3C6;O60241-2;O60241;A2A3C2	.;.;.;.;.;BAI2_HUMAN;.	K	1402;1420;1487;1486;1387;1453;1453;1096;1475	ENSP00000381564:E1402K;ENSP00000381555:E1420K;ENSP00000362762:E1487K;ENSP00000362759:E1486K;ENSP00000381550:E1387K;ENSP00000257070:E1453K;ENSP00000435397:E1453K;ENSP00000391071:E1096K;ENSP00000381548:E1475K	ENSP00000257070:E1453K	E	-	1	0	BAI2	31966426	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.274000	0.78538	2.595000	0.87683	0.561000	0.74099	GAG		0.637	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		6	26	0	0	0	0.029380	0	6	26				
ATAD5	79915	broad.mit.edu	37	17	29220528	29220528	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr17:29220528G>C	ENST00000321990.4	+	21	5035	c.4657G>C	c.(4657-4659)Gaa>Caa	p.E1553Q		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1553					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GAAACACTCTGAAAGAGAACA	0.368																																						ENST00000321990.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(4657-4659)Gaa>Caa		ATPase family, AAA domain containing 5							38.0	45.0	43.0					17																	29220528		2199	4294	6493	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29220528G>C		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.4657G>C	17.37:g.29220528G>C	ENSP00000313171:p.Glu1553Gln						p.E1553Q	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN			21	5035	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	1553					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.4657G>C	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.537072	0.27475	.	.	ENSG00000176208	ENST00000321990	T	0.05925	3.37	4.84	4.84	0.62591	.	0.990706	0.08231	N	0.977556	T	0.09642	0.0237	L	0.43152	1.355	0.20196	N	0.99992	D	0.53619	0.961	B	0.44108	0.441	T	0.28073	-1.0055	10	0.51188	T	0.08	.	11.812	0.52188	0.0839:0.0:0.9161:0.0	.	1553	Q96QE3	ATAD5_HUMAN	Q	1553	ENSP00000313171:E1553Q	ENSP00000313171:E1553Q	E	+	1	0	ATAD5	26244654	0.998000	0.40836	0.997000	0.53966	0.272000	0.26649	3.396000	0.52565	2.505000	0.84491	0.591000	0.81541	GAA		0.368	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		19	28	0	0	0	0.204396	0	19	28				
TTN	7273	broad.mit.edu	37	2	179467097	179467097	+	Silent	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:179467097C>T	ENST00000591111.1	-	233	50333	c.50109G>A	c.(50107-50109)aaG>aaA	p.K16703K	TTN_ENST00000342992.6_Silent_p.K15776K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Silent_p.K9471K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Silent_p.K9279K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.K18344K|TTN_ENST00000359218.5_Silent_p.K9404K|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16703	Fibronectin type-III 21. {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)			TGAATCTGTACTTCCTGAGCT	0.418																																						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.(55030-55032)aaG>aaA		titin							142.0	140.0	141.0					2																	179467097		1889	4108	5997	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179467097C>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.50109G>A	2.37:g.179467097C>T						TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Silent_p.K9279K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.K16703K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Silent_p.K9471K|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.K15776K|TTN_ENST00000359218.5_Silent_p.K9404K	p.K18344K	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)		283	55256	-			16703			Fibronectin type-III 33.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.55032G>A																																																																																					0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	41	0	0	0	0.150653	0	4	41				
PCDHA3	56145	broad.mit.edu	37	5	140181874	140181874	+	Silent	SNP	A	A	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr5:140181874A>T	ENST00000522353.2	+	1	1092	c.1092A>T	c.(1090-1092)ccA>ccT	p.P364P	PCDHA3_ENST00000532566.2_Silent_p.P364P|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	364	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGACTCTCCACTTAGCACAG	0.488																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(1090-1092)ccA>ccT									129.0	127.0	128.0					5																	140181874		2203	4300	6503	SO:0001819	synonymous_variant	56145							g.chr5:140181874A>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1092A>T	5.37:g.140181874A>T						PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.P364P|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron	p.P364P	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1092	+								O75286	Silent	SNP	ENST00000522353.2	37	c.1092A>T	CCDS54915.1																																																																																				0.488	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		24	58	0	0	0	0.091800	0	24	58				
COL7A1	1294	broad.mit.edu	37	3	48617463	48617463	+	Splice_Site	SNP	C	C	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr3:48617463C>A	ENST00000328333.8	-	56	5232		c.e56+1		COL7A1_ENST00000454817.1_Splice_Site|MIR711_ENST00000390201.1_RNA	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1						cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCAGCCCTTACCAGCCGTCCC	0.592																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.e56+1		collagen, type VII, alpha 1							62.0	77.0	72.0					3																	48617463		2203	4300	6503	SO:0001630	splice_region_variant	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48617463C>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.5124+1G>T	3.37:g.48617463C>A						COL7A1_ENST00000454817.1_Splice_Site		NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	56	5232	-								Q14054|Q16507	Splice_Site	SNP	ENST00000328333.8	37		CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.216537	0.58452	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9826	0.58572	0.0:0.8252:0.1748:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL7A1	48592467	0.997000	0.39634	1.000000	0.80357	0.666000	0.39218	4.370000	0.59517	2.621000	0.88768	0.655000	0.94253	.		0.592	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094	Intron	10	29	1	0	0.00829132	0.069234	0.00855042	10	29				
SYNE1	23345	broad.mit.edu	37	6	152674420	152674420	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr6:152674420C>T	ENST00000367255.5	-	69	11832	c.11231G>A	c.(11230-11232)gGg>gAg	p.G3744E	SYNE1_ENST00000341594.5_Missense_Mutation_p.G3715E|SYNE1_ENST00000265368.4_Missense_Mutation_p.G3744E|SYNE1_ENST00000423061.1_Missense_Mutation_p.G3729E|SYNE1_ENST00000448038.1_Missense_Mutation_p.G3729E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3744					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)		CAATTTCTTCCCCATCATTAC	0.423										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.(11230-11232)gGg>gAg		spectrin repeat containing, nuclear envelope 1							225.0	205.0	212.0					6																	152674420		2203	4300	6503	SO:0001583	missense	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.chr6:152674420C>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.11231G>A	6.37:g.152674420C>T	ENSP00000356224:p.Gly3744Glu	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.G3729E|SYNE1_ENST00000341594.5_Missense_Mutation_p.G3715E|SYNE1_ENST00000265368.4_Missense_Mutation_p.G3744E|SYNE1_ENST00000423061.1_Missense_Mutation_p.G3729E	p.G3744E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	69	11832	-		Ovarian(120;0.0955)	3744					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.11231G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	6.808	0.518128	0.13005	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.47528	0.93;0.93;0.84;0.93;1.72	5.75	1.44	0.22558	.	0.420397	0.22524	N	0.058934	T	0.08447	0.0210	N	0.15975	0.35	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.001;0.001;0.002	T	0.35574	-0.9783	10	0.02654	T	1	.	8.1915	0.31370	0.0:0.488:0.0:0.512	.	3744;3744;3744;3729	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	E	3744;3729;3744;3729;3715	ENSP00000356224:G3744E;ENSP00000396024:G3729E;ENSP00000265368:G3744E;ENSP00000390975:G3729E;ENSP00000341887:G3715E	ENSP00000265368:G3744E	G	-	2	0	SYNE1	152716113	1.000000	0.71417	0.999000	0.59377	0.126000	0.20510	1.622000	0.36997	0.354000	0.24105	0.655000	0.94253	GGG		0.423	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		38	149	0	0	0	0.235728	0	38	149				
MTERF4	130916	broad.mit.edu	37	2	242035518	242035518	+	Missense_Mutation	SNP	A	A	C	rs142629642|rs10203977		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:242035518A>C	ENST00000391980.2	-	4	1099	c.1041T>G	c.(1039-1041)gaT>gaG	p.D347E	MTERFD2_ENST00000495694.1_Intron|MTERFD2_ENST00000406593.1_Missense_Mutation_p.D159E|MTERFD2_ENST00000464344.2_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		347			D -> E (in dbSNP:rs10203977).		rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	rRNA binding (GO:0019843)			endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		tgtcctcctcatcatcgtcat	0.517																																						ENST00000391980.2																			0				endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20						c.(1039-1041)gaT>gaG		MTERF domain containing 2							285.0	202.0	230.0					2																	242035518		2203	4300	6503	SO:0001583	missense	130916							g.chr2:242035518A>C																												ENST00000391980.2:c.1041T>G	2.37:g.242035518A>C	ENSP00000375840:p.Asp347Glu					MTERFD2_ENST00000495694.1_Intron|MTERFD2_ENST00000406593.1_Missense_Mutation_p.D159E	p.D347E	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)	4	1099	-		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	347		D -> E (in dbSNP:rs10203977).			A8K6K0|Q9P0E0	Missense_Mutation	SNP	ENST00000391980.2	37	c.1041T>G	CCDS2544.1	.	.	.	.	.	.	.	.	.	.	A	8.721	0.914430	0.17907	.	.	ENSG00000122085	ENST00000391980;ENST00000406593	T;T	0.66815	4.29;-0.23	2.01	-4.02	0.04034	.	.	.	.	.	T	0.34483	0.0899	N	0.08118	0	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.13469	-1.0508	9	0.18276	T	0.48	.	1.5581	0.02589	0.1711:0.2675:0.3942:0.1672	rs10203977;rs10203977	347	Q7Z6M4	MTER2_HUMAN	E	347;159	ENSP00000375840:D347E;ENSP00000384998:D159E	ENSP00000241527:D347E	D	-	3	2	MTERFD2	241684191	0.000000	0.05858	0.010000	0.14722	0.044000	0.14063	-3.143000	0.00585	-1.486000	0.01851	0.055000	0.15244	GAT		0.517	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323798.4			22	28	0	0	0	0.234183	0	22	28				
MLH1	4292	broad.mit.edu	37	3	37056031	37056031	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr3:37056031C>G	ENST00000231790.2	+	9	1002	c.786C>G	c.(784-786)atC>atG	p.I262M	MLH1_ENST00000455445.2_Missense_Mutation_p.I21M|MLH1_ENST00000536378.1_Missense_Mutation_p.I21M|MLH1_ENST00000435176.1_Missense_Mutation_p.I164M|MLH1_ENST00000539477.1_Missense_Mutation_p.I21M|MLH1_ENST00000458205.2_Missense_Mutation_p.I21M	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	262			Missing (in HNPCC2).|Missing (in HNPCC2). {ECO:0000269|PubMed:9833759}.		ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TACTCTTCATCAACCGTAAGT	0.383		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000231790.2		1	yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	"""D, Mis, N, F, S"""	E.coli MutL homolog gene			"""E, O"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		1	Whole gene deletion(1)	p.0?(1)	ovary(1)	NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						c.(784-786)atC>atG	Mismatch excision repair (MMR)	mutL homolog 1							58.0	53.0	55.0					3																	37056031		2203	4300	6503	SO:0001583	missense	4292	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	g.chr3:37056031C>G	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.786C>G	3.37:g.37056031C>G	ENSP00000231790:p.Ile262Met					MLH1_ENST00000539477.1_Missense_Mutation_p.I21M|MLH1_ENST00000536378.1_Missense_Mutation_p.I21M|MLH1_ENST00000435176.1_Missense_Mutation_p.I164M|MLH1_ENST00000458205.2_Missense_Mutation_p.I21M|MLH1_ENST00000455445.2_Missense_Mutation_p.I21M	p.I262M	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN			9	1002	+			262		Missing (in HNPCC2).			B4DI13|B4DQ11|E9PCU2	Missense_Mutation	SNP	ENST00000231790.2	37	c.786C>G	CCDS2663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.60|18.60	3.659082|3.659082	0.67586|0.67586	.|.	.|.	ENSG00000076242|ENSG00000076242	ENST00000231790;ENST00000436867;ENST00000537937;ENST00000383761;ENST00000458205;ENST00000539477;ENST00000455445;ENST00000435176;ENST00000441265;ENST00000536378|ENST00000456676	D;D;D;D;D;D;D|.	0.88277|.	-2.36;-2.36;-2.36;-2.36;-2.36;-2.36;-2.36|.	5.43|5.43	4.55|4.55	0.56014|0.56014	Ribosomal protein S5 domain 2-type fold (1);DNA mismatch repair protein, N-terminal (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);DNA mismatch repair protein, C-terminal (1);|.	0.112804|.	0.64402|.	D|.	0.000015|.	T|.	0.81074|.	0.4747|.	H|H	0.96269|0.96269	3.795|3.795	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.85130|.	0.997;0.997;0.997|.	T|.	0.82528|.	-0.0412|.	10|.	0.87932|.	D|.	0|.	-17.083|-17.083	5.4794|5.4794	0.16715|0.16715	0.2034:0.6325:0.0:0.164|0.2034:0.6325:0.0:0.164	.|.	164;262;262|.	E9PCU2;Q53GX1;P40692|.	.;.;MLH1_HUMAN|.	M|X	262;228;228;126;21;21;21;164;21;21|254	ENSP00000231790:I262M;ENSP00000402667:I21M;ENSP00000443665:I21M;ENSP00000398272:I21M;ENSP00000402564:I164M;ENSP00000398392:I21M;ENSP00000444286:I21M|.	ENSP00000231790:I262M|.	I|S	+|+	3|2	3|0	MLH1|MLH1	37031035|37031035	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.506000|1.506000	0.35747|0.35747	1.288000|1.288000	0.44600|0.44600	0.591000|0.591000	0.81541|0.81541	ATC|TCA		0.383	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		10	25	0	0	0	0.058154	0	10	25				
ABCC8	6833	broad.mit.edu	37	11	17428629	17428629	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr11:17428629G>A	ENST00000389817.3	-	25	3036	c.2968C>T	c.(2968-2970)Cac>Tac	p.H990Y	ABCC8_ENST00000302539.4_Missense_Mutation_p.H991Y			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	990					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	GCACGCTGGTGCAGCATGGAC	0.607																																						ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(2971-2973)Cac>Tac		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						76.0	70.0	72.0					11																	17428629		2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17428629G>A	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.2968C>T	11.37:g.17428629G>A	ENSP00000374467:p.His990Tyr					ABCC8_ENST00000389817.3_Missense_Mutation_p.H990Y	p.H991Y	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	25	3096	-			990					A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.2971C>T	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033582	0.54896	.	.	ENSG00000006071	ENST00000389817;ENST00000302539	D;D	0.91351	-2.83;-2.83	6.17	6.17	0.99709	ABC transporter, transmembrane domain, type 1 (1);	0.052196	0.85682	D	0.000000	D	0.88058	0.6335	L	0.44542	1.39	0.45452	D	0.998423	P	0.35033	0.481	B	0.36030	0.216	D	0.87147	0.2206	10	0.56958	D	0.05	.	15.581	0.76439	0.0:0.0:0.8623:0.1377	.	990	Q09428	ABCC8_HUMAN	Y	990;991	ENSP00000374467:H990Y;ENSP00000303960:H991Y	ENSP00000303960:H991Y	H	-	1	0	ABCC8	17385205	1.000000	0.71417	1.000000	0.80357	0.590000	0.36582	6.315000	0.72853	2.941000	0.99782	0.655000	0.94253	CAC		0.607	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		8	23	0	0	0	0.047766	0	8	23				
CCDC88A	55704	broad.mit.edu	37	2	55570925	55570925	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:55570925G>A	ENST00000436346.1	-	12	2033	c.1192C>T	c.(1192-1194)Cga>Tga	p.R398*	AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000413716.2_Nonsense_Mutation_p.R398*|CCDC88A_ENST00000263630.8_Nonsense_Mutation_p.R398*|CCDC88A_ENST00000336838.6_Nonsense_Mutation_p.R398*	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	398					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TCCATATCTCGTTCCTTTTTT	0.308																																						ENST00000436346.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						c.(1192-1194)Cga>Tga		coiled-coil domain containing 88A							91.0	87.0	88.0					2																	55570925		2202	4300	6502	SO:0001587	stop_gained	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55570925G>A	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.1192C>T	2.37:g.55570925G>A	ENSP00000410608:p.Arg398*					AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000336838.6_Nonsense_Mutation_p.R398*|CCDC88A_ENST00000263630.8_Nonsense_Mutation_p.R398*|CCDC88A_ENST00000413716.2_Nonsense_Mutation_p.R398*	p.R398*	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN			12	2033	-			398					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Nonsense_Mutation	SNP	ENST00000436346.1	37	c.1192C>T		.	.	.	.	.	.	.	.	.	.	G	39	7.852240	0.98525	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	.	.	.	5.78	5.78	0.91487	.	0.159617	0.29480	U	0.012027	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.5583	20.0009	0.97408	0.0:0.0:1.0:0.0	.	.	.	.	X	398	.	ENSP00000263630:R398X	R	-	1	2	CCDC88A	55424429	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.236000	0.65354	2.736000	0.93811	0.555000	0.69702	CGA		0.308	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		8	14	0	0	0	0.038147	0	8	14				
FREM1	158326	broad.mit.edu	37	9	14740170	14740170	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr9:14740170C>G	ENST00000380880.3	-	36	7100	c.6317G>C	c.(6316-6318)gGt>gCt	p.G2106A	FREM1_ENST00000380881.4_Missense_Mutation_p.G2107A|FREM1_ENST00000422223.2_Missense_Mutation_p.G2106A|FREM1_ENST00000380894.1_Missense_Mutation_p.G642A			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	2106	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				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)		CTTTCTCCCACCAATGTCCCA	0.502																																						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.(6319-6321)gGt>gCt		FRAS1 related extracellular matrix 1							110.0	111.0	110.0					9																	14740170		1999	4171	6170	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14740170C>G	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.6317G>C	9.37:g.14740170C>G	ENSP00000370262:p.Gly2106Ala					FREM1_ENST00000380894.1_Missense_Mutation_p.G642A|FREM1_ENST00000380880.3_Missense_Mutation_p.G2106A|FREM1_ENST00000422223.2_Missense_Mutation_p.G2106A	p.G2107A			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	37	7135	-			2106			C-type lectin.		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.6320G>C	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.181889	0.38511	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880	T;T;T;T	0.15256	2.44;2.44;2.44;2.44	5.83	5.83	0.93111	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.203905	0.64402	D	0.000012	T	0.10165	0.0249	N	0.03304	-0.355	0.40309	D	0.978697	B;B	0.18013	0.025;0.025	B;B	0.23574	0.014;0.047	T	0.33879	-0.9851	10	0.16420	T	0.52	-2.8169	20.1338	0.98010	0.0:1.0:0.0:0.0	.	2106;642	Q5H8C1;B7ZBX4	FREM1_HUMAN;.	A	2107;2106;642;2106	ENSP00000370263:G2107A;ENSP00000412940:G2106A;ENSP00000370278:G642A;ENSP00000370262:G2106A	ENSP00000370262:G2106A	G	-	2	0	FREM1	14730170	1.000000	0.71417	0.915000	0.36163	0.967000	0.64934	5.150000	0.64869	2.770000	0.95276	0.655000	0.94253	GGT		0.502	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		11	162	0	0	0	0.105934	0	11	162				
PCDHA13	56136	broad.mit.edu	37	5	140263705	140263705	+	Missense_Mutation	SNP	G	G	A	rs558387300		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr5:140263705G>A	ENST00000289272.2	+	1	1852	c.1852G>A	c.(1852-1854)Gcg>Acg	p.A618T	PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.A618T|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	618	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGGTCGGCGCGCGCATCCC	0.687																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			0				NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(1852-1854)Gcg>Acg									53.0	59.0	57.0					5																	140263705		2201	4297	6498	SO:0001583	missense	56136							g.chr5:140263705G>A	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1852G>A	5.37:g.140263705G>A	ENSP00000289272:p.Ala618Thr					PCDHA13_ENST00000409494.1_Missense_Mutation_p.A618T|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron	p.A618T	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1852	+								O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.1852G>A	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	G	0.742	-0.775902	0.02951	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.20463	2.07;2.07	3.97	1.09	0.20402	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.12561	0.0305	L	0.31752	0.955	0.09310	N	1	B;B;B	0.25390	0.002;0.025;0.125	B;B;B	0.13407	0.003;0.009;0.009	T	0.26467	-1.0102	9	0.54805	T	0.06	.	3.3524	0.07156	0.0944:0.1405:0.4739:0.2912	.	618;618;618	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	T	618	ENSP00000386821:A618T;ENSP00000289272:A618T	ENSP00000289272:A618T	A	+	1	0	PCDHA13	140243889	0.000000	0.05858	0.001000	0.08648	0.108000	0.19459	-0.463000	0.06696	-0.245000	0.09625	-0.808000	0.03180	GCG		0.687	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		25	48	0	0	0	0.083992	0	25	48				
DOCK4	9732	broad.mit.edu	37	7	111368497	111368497	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr7:111368497G>A	ENST00000437633.1	-	52	5990	c.5734C>T	c.(5734-5736)Cgc>Tgc	p.R1912C	DOCK4_ENST00000428084.1_Missense_Mutation_p.R1921C|DOCK4_ENST00000494651.2_Missense_Mutation_p.R795C	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1912	Pro-rich.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GGGACGGGGCGCCGCAGAGTC	0.716																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(5761-5763)Cgc>Tgc		dedicator of cytokinesis 4							21.0	28.0	26.0					7																	111368497		2050	4169	6219	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111368497G>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.5734C>T	7.37:g.111368497G>A	ENSP00000404179:p.Arg1912Cys					DOCK4_ENST00000437633.1_Missense_Mutation_p.R1912C|DOCK4_ENST00000494651.2_Missense_Mutation_p.R795C	p.R1921C			Q8N1I0	DOCK4_HUMAN			53	6033	-		Acute lymphoblastic leukemia(1;0.0441)	1912			Pro-rich.		O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.5761C>T	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.499505	0.85176	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000342288	T;T;T	0.38887	1.11;1.11;1.11	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.63931	0.2553	L	0.57536	1.79	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;P;P;D;D;D	0.87578	0.982;0.899;0.893;0.982;0.992;0.998	T	0.65121	-0.6245	10	0.87932	D	0	.	19.5919	0.95518	0.0:0.0:1.0:0.0	.	781;795;1957;1912;1883;225	B7Z2K9;F5GXW1;Q149N5;Q8N1I0;Q8N1I0-2;Q8N1I0-4	.;.;.;DOCK4_HUMAN;.;.	C	1900;1921;795;1912;1871	ENSP00000410746:R1921C;ENSP00000440944:R795C;ENSP00000404179:R1912C	ENSP00000345432:R1871C	R	-	1	0	DOCK4	111155733	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.642000	0.61383	2.640000	0.89533	0.655000	0.94253	CGC		0.716	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		13	34	0	0	0	0.105934	0	13	34				
DGKK	139189	broad.mit.edu	37	X	50213157	50213157	+	RNA	SNP	C	C	T	rs375123197		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chrX:50213157C>T	ENST00000376025.2	-	0	580							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)					TGGACTTGGACGGAACTCTGG	0.612																																						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			HIS/ARG	1,3353		0,1,1391,570	35.0	34.0	34.0		521	1.6	0.0	X		34	0,6462		0,0,2339,1784	no	missense	DGKK	NM_001013742.2	29	0,1,3730,2354	TT,TC,CC,C		0.0,0.0298,0.0102	benign	174/1272	50213157	1,9815	1962	4123	6085			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:50213157C>T	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.50213157C>T										Q5KSL6	DGKK_HUMAN			0	580	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.612	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		3	21	0	0	0	0.115264	0	3	21				
ARHGAP8	23779	broad.mit.edu	37	22	45204236	45204236	+	Missense_Mutation	SNP	G	G	A	rs148849830		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr22:45204236G>A	ENST00000389774.2	+	4	358	c.217G>A	c.(217-219)Gtc>Atc	p.V73I	ARHGAP8_ENST00000389773.5_Missense_Mutation_p.V195I|ARHGAP8_ENST00000356099.6_Missense_Mutation_p.V73I|PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.V204I|PRR5-ARHGAP8_ENST00000352766.7_Intron|ARHGAP8_ENST00000336963.4_Missense_Mutation_p.V73I|ARHGAP8_ENST00000517296.3_Intron	NM_001017526.1	NP_001017526.1	P85298	RHG08_HUMAN	Rho GTPase activating protein 8	73	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		TTATACCATCGTCTATTTCCA	0.478																																						ENST00000361473.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						c.(610-612)Gtc>Atc				G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	89.0	79.0	83.0		217,217,583,217	0.8	0.5	22	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	ARHGAP8,PRR5-ARHGAP8	NM_001017526.1,NM_001198726.1,NM_181334.4,NM_181335.2	29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign	73/465,73/306,195/556,73/434	45204236	1,13005	2203	4300	6503	SO:0001583	missense	553158							g.chr22:45204236G>A	AF177331	CCDS14060.2, CCDS33664.1, CCDS56233.1	22q13.3	2010-05-11			ENSG00000241484	ENSG00000241484		"""Rho GTPase activating proteins"""	677	protein-coding gene	gene with protein product		609405				10591208	Standard	NM_001198726		Approved	FLJ20185, BPGAP1		P85298	OTTHUMG00000030234	ENST00000389774.2:c.217G>A	22.37:g.45204236G>A	ENSP00000374424:p.Val73Ile					ARHGAP8_ENST00000356099.6_Missense_Mutation_p.V73I|ARHGAP8_ENST00000336963.4_Missense_Mutation_p.V73I|ARHGAP8_ENST00000389774.2_Missense_Mutation_p.V73I|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.V195I|ARHGAP8_ENST00000517296.3_Intron|PRR5-ARHGAP8_ENST00000352766.7_Intron	p.V204I							7	852	+								A6ZJ79|A6ZJ80|O75983|O95695|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Missense_Mutation	SNP	ENST00000389774.2	37	c.610G>A	CCDS33664.1	.	.	.	.	.	.	.	.	.	.	G	5.021	0.189569	0.09547	0.0	1.16E-4	ENSG00000248405;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484	ENST00000361473;ENST00000389773;ENST00000389774;ENST00000396119;ENST00000336963;ENST00000356099;ENST00000412433	T;T;T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76	4.34	0.824	0.18818	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.222293	0.22584	U	0.058178	T	0.61887	0.2383	L	0.31926	0.97	0.29998	N	0.816294	B;B;B;B;B;B;B	0.30973	0.265;0.124;0.044;0.265;0.265;0.127;0.302	B;B;B;B;B;B;B	0.34418	0.078;0.03;0.012;0.078;0.05;0.069;0.182	T	0.58272	-0.7665	10	0.34782	T	0.22	.	10.583	0.45267	0.2613:0.0:0.7387:0.0	.	109;73;109;73;114;195;204	B7ZMA4;A6ZJ79;A2RU51;P85298;Q6PCC7;F8W6F3;B1AHC3	.;.;.;RHG08_HUMAN;.;.;.	I	204;195;73;73;73;73;73	ENSP00000354732:V204I;ENSP00000374423:V195I;ENSP00000374424:V73I;ENSP00000379425:V73I;ENSP00000337287:V73I;ENSP00000348407:V73I;ENSP00000402775:V73I	ENSP00000337287:V73I	V	+	1	0	PRR5-ARHGAP8;ARHGAP8	43582900	0.786000	0.28738	0.458000	0.27068	0.097000	0.18754	0.952000	0.29149	0.450000	0.26774	-0.216000	0.12614	GTC		0.478	ARHGAP8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075088.4	NM_017701		10	43	0	0	0	0.069234	0	10	43				
PCDHB8	56128	broad.mit.edu	37	5	140558774	140558774	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr5:140558774C>T	ENST00000239444.2	+	1	1404	c.1159C>T	c.(1159-1161)Cag>Tag	p.Q387*	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	387	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGCTCCATTCAGGAGGATCT	0.458																																						ENST00000239444.2																			0				NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(1159-1161)Cag>Tag									126.0	169.0	154.0					5																	140558774		2203	4300	6503	SO:0001587	stop_gained	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140558774C>T	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1159C>T	5.37:g.140558774C>T	ENSP00000239444:p.Gln387*						p.Q387*	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1404	+			387			Cadherin 4.		B9EGV1	Nonsense_Mutation	SNP	ENST00000239444.2	37	c.1159C>T	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.441235	0.43326	.	.	ENSG00000120322	ENST00000239444	.	.	.	4.25	2.33	0.28932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	9.4056	0.38460	0.1275:0.4534:0.4191:0.0	.	.	.	.	X	387	.	ENSP00000239444:Q387X	Q	+	1	0	PCDHB8	140538958	0.000000	0.05858	0.010000	0.14722	0.007000	0.05969	-0.383000	0.07398	0.758000	0.33059	0.585000	0.79938	CAG		0.458	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		15	135	0	0	0	0.119110	0	15	135				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	3	43	0	0	0	0.150653	0	3	43				
IPP	3652	broad.mit.edu	37	1	46206708	46206708	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr1:46206708C>T	ENST00000396478.3	-	3	691	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	197						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					ACCTGGTATTCATCCTCAATG	0.413																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(589-591)Gaa>Aaa		intracisternal A particle-promoted polypeptide							187.0	180.0	183.0					1																	46206708		2203	4300	6503	SO:0001583	missense	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46206708C>T	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"""Kelch-like"", ""BTB/POZ domain containing"""	6108	protein-coding gene	gene with protein product	"""kelch-like family member 27"""	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.589G>A	1.37:g.46206708C>T	ENSP00000379739:p.Glu197Lys						p.E197K	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			3	691	-	Acute lymphoblastic leukemia(166;0.155)		197					A2A6V4|D3DQ11|Q8N5C3	Missense_Mutation	SNP	ENST00000396478.3	37	c.589G>A	CCDS30702.1	.	.	.	.	.	.	.	.	.	.	C	32	5.178434	0.94846	.	.	ENSG00000197429	ENST00000359942;ENST00000396478	D;D	0.93547	-3.24;-3.24	5.19	5.19	0.71726	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.98197	0.9404	H	0.98048	4.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99541	1.0963	10	0.87932	D	0	.	19.0741	0.93151	0.0:1.0:0.0:0.0	.	197;197	Q9Y573;A2A6V3	IPP_HUMAN;.	K	197	ENSP00000353024:E197K;ENSP00000379739:E197K	ENSP00000353024:E197K	E	-	1	0	IPP	45979295	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.398000	0.79919	2.586000	0.87340	0.655000	0.94253	GAA		0.413	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		23	61	0	0	0	0.069288	0	23	61				
NETO1	81832	broad.mit.edu	37	18	70526309	70526309	+	Splice_Site	SNP	G	G	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr18:70526309G>T	ENST00000327305.6	-	4	878	c.221C>A	c.(220-222)gCc>gAc	p.A74D	NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000299430.2_Splice_Site_p.A73D|NETO1_ENST00000397929.1_Splice_Site_p.A73D|NETO1_ENST00000583169.1_Splice_Site_p.A74D	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	74	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TCTTGGAGCGGCTGTAAAGAA	0.368																																						ENST00000327305.6																			0				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63						c.e4-1		neuropilin (NRP) and tolloid (TLL)-like 1							52.0	52.0	52.0					18																	70526309		2203	4300	6503	SO:0001630	splice_region_variant	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70526309G>T	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.221-1C>A	18.37:g.70526309G>T						NETO1_ENST00000583169.1_Splice_Site_p.A74_splice|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000397929.1_Splice_Site_p.A73_splice|NETO1_ENST00000299430.2_Splice_Site_p.A73_splice	p.A74_splice	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	4	878	-		Esophageal squamous(42;0.129)	74			CUB 1.		Q86W85|Q8ND78|Q8TDF4	Splice_Site	SNP	ENST00000327305.6	37	c.220_splice	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844520	0.91197	.	.	ENSG00000166342	ENST00000327305;ENST00000299430;ENST00000397929	T;T;T	0.39787	1.06;1.06;1.32	4.99	4.99	0.66335	CUB (5);	0.000000	0.64402	D	0.000014	T	0.78084	0.4228	H	0.97540	4.025	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.996;0.997;0.998	D	0.86661	0.1904	10	0.87932	D	0	.	18.6498	0.91427	0.0:0.0:1.0:0.0	.	73;73;74	Q8TDF5-1;Q8TDF5-2;Q8TDF5	.;.;NETO1_HUMAN	D	74;73;73	ENSP00000313088:A74D;ENSP00000299430:A73D;ENSP00000381024:A73D	ENSP00000299430:A73D	A	-	2	0	NETO1	68677289	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	9.745000	0.98856	2.475000	0.83589	0.591000	0.81541	GCC		0.368	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999	Missense_Mutation	11	49	1	0	5.16669e-11	0.080935	6.06225e-11	11	49				
SPTA1	6708	broad.mit.edu	37	1	158655086	158655086	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr1:158655086C>T	ENST00000368147.4	-	2	256	c.76G>A	c.(76-78)Gag>Aag	p.E26K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	26					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.E26*(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGACGCCTCTCCTGGATCTCT	0.443																																						ENST00000368148.3																			1	Substitution - Nonsense(1)	p.E26*(1)	lung(1)	NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(76-78)Gag>Aag		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							146.0	145.0	146.0					1																	158655086		1900	4122	6022	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158655086C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.76G>A	1.37:g.158655086C>T	ENSP00000357129:p.Glu26Lys					SPTA1_ENST00000368147.3_Missense_Mutation_p.E26K	p.E26K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			2	256	-	all_hematologic(112;0.0378)		26					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.76G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.122661	0.56613	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.36340	1.26;1.26	4.98	0.727	0.18254	.	1.719800	0.03994	N	0.295375	T	0.18215	0.0437	M	0.61703	1.905	0.33539	D	0.594619	B	0.06786	0.001	B	0.12156	0.007	T	0.12142	-1.0559	10	0.52906	T	0.07	.	6.3053	0.21135	0.0:0.4749:0.3357:0.1894	.	26	P02549	SPTA1_HUMAN	K	26	ENSP00000357130:E26K;ENSP00000357129:E26K	ENSP00000357129:E26K	E	-	1	0	SPTA1	156921710	1.000000	0.71417	0.351000	0.25721	0.997000	0.91878	1.430000	0.34914	-0.025000	0.13918	0.467000	0.42956	GAG		0.443	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		22	74	0	0	0	0.069288	0	22	74				
GOLGA6L7P	728310	broad.mit.edu	37	15	29092219	29092219	+	RNA	SNP	C	C	T	rs373223686		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr15:29092219C>T	ENST00000569815.1	-	0	296					NR_047567.1				golgin A6 family-like 7, pseudogene																		CATCCTCAGGCGAGTGGCAGC	0.552																																						ENST00000569815.1																			0																																																			728310							g.chr15:29092219C>T	AK302238		15q13.1	2012-10-05	2011-04-15	2010-04-20	ENSG00000261649	ENSG00000261649			37442	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 6-like 7 (pseudogene)"""	GOLGA6L7			Standard	NR_047567		Approved		uc010uar.2		OTTHUMG00000176345		15.37:g.29092219C>T								NR_047567.1						0	296	-									RNA	SNP	ENST00000569815.1	37																																																																																						0.552	GOLGA6L7P-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000431796.1	XR_078490		3	8	0	0	0	0.029380	0	3	8				
ZDHHC21	340481	broad.mit.edu	37	9	14674243	14674243	+	Silent	SNP	G	G	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr9:14674243G>T	ENST00000380916.4	-	4	562	c.96C>A	c.(94-96)ccC>ccA	p.P32P		NM_178566.4	NP_848661.1	Q8IVQ6	ZDH21_HUMAN	zinc finger, DHHC-type containing 21	32					hair follicle development (GO:0001942)|nitric oxide metabolic process (GO:0046209)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)|regulation of nitric-oxide synthase activity (GO:0050999)|sebaceous gland development (GO:0048733)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9				GBM - Glioblastoma multiforme(50;4.31e-06)		GGACAATTTTGGGAATTAAAA	0.333																																						ENST00000380916.3																			0				endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9						c.(94-96)ccC>ccA		zinc finger, DHHC-type containing 21							90.0	97.0	94.0					9																	14674243		2203	4299	6502	SO:0001819	synonymous_variant	340481				nitric oxide metabolic process|regulation of nitric-oxide synthase activity	Golgi membrane|integral to membrane	palmitoyltransferase activity|zinc ion binding	g.chr9:14674243G>T	AF161360	CCDS6475.1	9p22.3	2010-02-09			ENSG00000175893	ENSG00000175893		"""Zinc fingers, DHHC-type"""	20750	protein-coding gene	gene with protein product		614605				19956733	Standard	NM_178566		Approved	HSPC097, DNZ1	uc003zlg.2	Q8IVQ6	OTTHUMG00000019573	ENST00000380916.4:c.96C>A	9.37:g.14674243G>T							p.P32P	NM_178566.4	NP_848661.1	Q8IVQ6	ZDH21_HUMAN		GBM - Glioblastoma multiforme(50;4.31e-06)	4	562	-			32					A8KA95|D3DRI7|Q5VWG1	Silent	SNP	ENST00000380916.4	37	c.96C>A	CCDS6475.1																																																																																				0.333	ZDHHC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051748.2	NM_178566		12	198	1	0	0.000151284	0.105934	0.000162354	12	198				
CDH13	1012	broad.mit.edu	37	16	83813633	83813633	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr16:83813633A>G	ENST00000566620.1	+	12	2032	c.1742A>G	c.(1741-1743)aAt>aGt	p.N581S	CDH13_ENST00000268613.10_Missense_Mutation_p.N628S|CDH13_ENST00000428848.3_Missense_Mutation_p.N542S	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	581	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GTGAATGACAATGCCCCGTTC	0.488																																						ENST00000566620.1																			0				large_intestine(1)	1						c.(1741-1743)aAt>aGt		cadherin 13							107.0	100.0	102.0					16																	83813633		1947	4183	6130	SO:0001583	missense	1012				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	g.chr16:83813633A>G	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.1742A>G	16.37:g.83813633A>G	ENSP00000454435:p.Asn581Ser					CDH13_ENST00000428848.3_Missense_Mutation_p.N542S|CDH13_ENST00000268613.10_Missense_Mutation_p.N628S	p.N581S	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	12	2032	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	581			Cadherin 4.		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	ENST00000566620.1	37	c.1742A>G	CCDS58486.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.406082	0.83230	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143;ENST00000538855;ENST00000539548;ENST00000540531	T	0.63580	-0.05	5.52	5.52	0.82312	Cadherin (4);Cadherin conserved site (1);Cadherin-like (2);	.	.	.	.	D	0.83073	0.5175	M	0.90977	3.165	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.87578	0.991;0.998;0.97	D	0.87121	0.2191	9	0.87932	D	0	.	14.8271	0.70122	1.0:0.0:0.0:0.0	.	542;628;581	B7Z590;B7Z9B1;P55290	.;.;CAD13_HUMAN	S	628;581;542;283;140;271	ENSP00000268613:N628S	ENSP00000268613:N628S	N	+	2	0	CDH13	82371134	1.000000	0.71417	0.921000	0.36526	0.962000	0.63368	8.336000	0.90033	2.077000	0.62373	0.533000	0.62120	AAT		0.488	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		6	18	0	0	0	0.038147	0	6	18				
NLRP7	199713	broad.mit.edu	37	19	55449436	55449436	+	Missense_Mutation	SNP	C	C	T	rs139797510	byFrequency	TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr19:55449436C>T	ENST00000590030.1	-	4	2145	c.2105G>A	c.(2104-2106)aGc>aAc	p.S702N	NLRP7_ENST00000340844.2_Missense_Mutation_p.S702N|NLRP7_ENST00000448121.2_Missense_Mutation_p.S674N|NLRP7_ENST00000328092.5_Missense_Mutation_p.S674N|NLRP7_ENST00000588756.1_Missense_Mutation_p.S702N|NLRP7_ENST00000446217.1_Missense_Mutation_p.S730N|NLRP7_ENST00000592784.1_Missense_Mutation_p.S702N			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	702							ATP binding (GO:0005524)	p.S674I(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		ATGACAGGTGCTACGGGTTAC	0.433																																						ENST00000588756.1																			1	Substitution - Missense(1)	p.S674I(1)	large_intestine(1)	autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(2104-2106)aGc>aAc		NLR family, pyrin domain containing 7		C	ASN/SER,ASN/SER,ASN/SER	0,4406		0,0,2203	241.0	250.0	247.0		2105,2021,2105	-4.4	0.0	19	dbSNP_134	247	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense	NLRP7	NM_001127255.1,NM_139176.3,NM_206828.3	46,46,46	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	benign,benign,benign	702/1038,674/1010,702/981	55449436	4,13002	2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55449436C>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.2105G>A	19.37:g.55449436C>T	ENSP00000465520:p.Ser702Asn					NLRP7_ENST00000592784.1_Missense_Mutation_p.S702N|NLRP7_ENST00000590030.1_Missense_Mutation_p.S702N|NLRP7_ENST00000340844.2_Missense_Mutation_p.S702N|NLRP7_ENST00000446217.1_Missense_Mutation_p.S730N|NLRP7_ENST00000328092.5_Missense_Mutation_p.S674N|NLRP7_ENST00000448121.2_Missense_Mutation_p.S674N	p.S702N			Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	7	2591	-			702					E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.2105G>A	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	0.412	-0.912906	0.02415	0.0	4.65E-4	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T	0.53640	0.61;0.61;0.61	2.19	-4.38	0.03622	.	1.961300	0.03163	N	0.169586	T	0.28267	0.0698	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.13145	0.002;0.002;0.004;0.007	B;B;B;B	0.13407	0.003;0.006;0.006;0.009	T	0.06215	-1.0839	10	0.44086	T	0.13	.	1.2924	0.02062	0.1536:0.2812:0.3174:0.2479	.	730;702;702;674	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	N	702;674;702;730;469	ENSP00000409137:S674N;ENSP00000339491:S702N;ENSP00000414273:S730N	ENSP00000329568:S702N	S	-	2	0	NLRP7	60141248	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.406000	0.00482	-2.461000	0.00536	-1.334000	0.01262	AGC		0.433	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		52	171	0	0	0	0.139131	0	52	171				
UPRT	139596	broad.mit.edu	37	X	74494381	74494381	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chrX:74494381G>C	ENST00000373383.4	+	1	459	c.292G>C	c.(292-294)Gag>Cag	p.E98Q	UPRT_ENST00000531704.1_3'UTR|UPRT_ENST00000373379.1_Missense_Mutation_p.E98Q|UPRT_ENST00000530743.1_5'Flank	NM_145052.3	NP_659489.1	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	98					female pregnancy (GO:0007565)|lactation (GO:0007595)|response to insulin (GO:0032868)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						CTCCTTCCTAGAGGACTGCGA	0.582																																						ENST00000373379.1																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						c.(292-294)Gag>Cag		uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)							32.0	26.0	28.0					X																	74494381		2203	4300	6503	SO:0001583	missense	139596				nucleoside metabolic process	cytoplasm|nucleus		g.chrX:74494381G>C	BC015116	CCDS14429.1	Xq13.3	2009-01-14			ENSG00000094841	ENSG00000094841			28334	protein-coding gene	gene with protein product		300656				12477932	Standard	NM_145052		Approved	DKFZp781E1243, MGC23937, FUR1, RP11-311P8.3	uc004ecb.2	Q96BW1	OTTHUMG00000021864	ENST00000373383.4:c.292G>C	X.37:g.74494381G>C	ENSP00000362481:p.Glu98Gln					UPRT_ENST00000373383.4_Missense_Mutation_p.E98Q|UPRT_ENST00000531704.1_3'UTR	p.E98Q			Q96BW1	UPP_HUMAN			1	457	+			98					Q5JRL1|Q5JRL3|Q68DN0|Q96MW2	Missense_Mutation	SNP	ENST00000373383.4	37	c.292G>C	CCDS14429.1	.	.	.	.	.	.	.	.	.	.	G	6.969	0.548824	0.13312	.	.	ENSG00000094841	ENST00000373383;ENST00000373379	.	.	.	5.38	2.64	0.31445	.	1.034150	0.07684	N	0.937521	T	0.24547	0.0595	N	0.08118	0	0.18873	N	0.999984	B;B;B	0.16802	0.004;0.019;0.019	B;B;B	0.18871	0.009;0.023;0.023	T	0.24225	-1.0166	9	0.34782	T	0.22	-20.8	8.637	0.33955	0.2674:0.0:0.7326:0.0	.	98;98;98	Q96BW1-2;A8KAF9;Q96BW1	.;.;UPP_HUMAN	Q	98	.	ENSP00000362471:E98Q	E	+	1	0	UPRT	74411106	0.863000	0.29885	0.004000	0.12327	0.014000	0.08584	2.979000	0.49313	0.639000	0.30564	-0.191000	0.12829	GAG		0.582	UPRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057278.1	NM_145052		2	18	0	0	0	0.115264	0	2	18				
CEACAM18	729767	broad.mit.edu	37	19	51981929	51981929	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr19:51981929G>T	ENST00000396477.4	+	1	54	c.33G>T	c.(31-33)tgG>tgT	p.W11C	CEACAM18_ENST00000451626.1_Missense_Mutation_p.W72C	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	11										breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GGAGCCTGTGGAGGAGGGTCT	0.632																																						ENST00000396477.4																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17						c.(31-33)tgG>tgT		carcinoembryonic antigen-related cell adhesion molecule 18							29.0	31.0	30.0					19																	51981929		1949	4159	6108	SO:0001583	missense	729767					integral to membrane		g.chr19:51981929G>T			19q13.41	2013-01-29				ENSG00000213822		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.33G>T	19.37:g.51981929G>T	ENSP00000379738:p.Trp11Cys					CEACAM18_ENST00000451626.1_Missense_Mutation_p.W72C	p.W11C	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	1	54	+		all_neural(266;0.0529)	72					C9JN24	Missense_Mutation	SNP	ENST00000396477.4	37	c.33G>T		.	.	.	.	.	.	.	.	.	.	.	10.18	1.279425	0.23307	.	.	ENSG00000213822	ENST00000451626;ENST00000451086;ENST00000396477	T	0.12039	2.72	2.8	1.72	0.24424	.	.	.	.	.	T	0.10594	0.0259	L	0.29908	0.895	0.09310	N	0.999992	B	0.30973	0.302	B	0.32724	0.151	T	0.28235	-1.0050	9	0.54805	T	0.06	.	7.667	0.28437	0.0:0.2625:0.7375:0.0	.	72	A8MTB9	CEA18_HUMAN	C	72;11;11	ENSP00000402203:W72C	ENSP00000379738:W11C	W	+	3	0	CEACAM18	56673741	0.042000	0.20092	0.009000	0.14445	0.012000	0.07955	1.637000	0.37155	0.730000	0.32425	0.655000	0.94253	TGG		0.632	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000323114.2			6	16	1	0	5.18039e-06	0.038147	5.62808e-06	6	16				
DOK1	1796	broad.mit.edu	37	2	74783065	74783065	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr2:74783065C>T	ENST00000233668.5	+	4	1168	c.499C>T	c.(499-501)Cgc>Tgc	p.R167C	LOXL3_ENST00000409986.1_5'Flank|M1AP_ENST00000464686.1_5'Flank|LOXL3_ENST00000409549.1_5'Flank|LOXL3_ENST00000264094.3_5'Flank|DOK1_ENST00000409429.1_Missense_Mutation_p.R28C|LOXL3_ENST00000393937.2_5'Flank|DOK1_ENST00000340004.6_Intron|DOK1_ENST00000480318.1_3'UTR	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	167	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				cell surface receptor signaling pathway (GO:0007166)|insulin receptor signaling pathway (GO:0008286)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor signaling protein activity (GO:0005057)			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGCCGCCGAGCGCTGTGGCCT	0.637																																					Esophageal Squamous(36;520 860 12502 33616 51270)	ENST00000233668.5																			0				endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(499-501)Cgc>Tgc		docking protein 1, 62kDa (downstream of tyrosine kinase 1)							52.0	51.0	51.0					2																	74783065		2203	4299	6502	SO:0001583	missense	1796				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding	g.chr2:74783065C>T	U70987	CCDS1954.1, CCDS56125.1	2p13	2008-05-21	2002-08-29		ENSG00000115325	ENSG00000115325			2990	protein-coding gene	gene with protein product		602919	"""docking protein 1, 62kD (downstream of tyrosine kinase 1)"""			9008160, 9790776, 15546884	Standard	NM_001381		Approved	p62dok	uc002sms.3	Q99704	OTTHUMG00000129956	ENST00000233668.5:c.499C>T	2.37:g.74783065C>T	ENSP00000233668:p.Arg167Cys					DOK1_ENST00000340004.6_Intron|DOK1_ENST00000409429.1_Missense_Mutation_p.R28C|DOK1_ENST00000480318.1_3'UTR	p.R167C	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN			4	1168	+			167			IRS-type PTB.		O43204|Q53TY2|Q9UHG6	Missense_Mutation	SNP	ENST00000233668.5	37	c.499C>T	CCDS1954.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.843507	0.91197	.	.	ENSG00000115325	ENST00000409429;ENST00000233668	T;T	0.76448	-1.02;-1.02	4.5	4.5	0.54988	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (3);	0.052909	0.85682	D	0.000000	D	0.88175	0.6366	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.989	D	0.89646	0.3866	10	0.66056	D	0.02	-0.64	15.0832	0.72130	0.0:1.0:0.0:0.0	.	156;167	B4DJN1;Q99704	.;DOK1_HUMAN	C	28;167	ENSP00000387016:R28C;ENSP00000233668:R167C	ENSP00000233668:R167C	R	+	1	0	DOK1	74636573	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.944000	0.40263	2.503000	0.84419	0.561000	0.74099	CGC		0.637	DOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252218.3	NM_001381		12	31	0	0	0	0.105934	0	12	31				
PRSS1	5644	broad.mit.edu	37	7	142458445	142458445	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr7:142458445G>A	ENST00000311737.7	+	2	86	c.80G>A	c.(79-81)gGc>gAc	p.G27D	PRSS1_ENST00000486171.1_Missense_Mutation_p.G27D	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	27	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	ATCGTTGGGGGCTACAACTGT	0.537																																						ENST00000486171.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38						c.(79-81)gGc>gAc		protease, serine, 1 (trypsin 1)							155.0	151.0	153.0					7																	142458445		2203	4300	6503	SO:0001583	missense	5644				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142458445G>A	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.80G>A	7.37:g.142458445G>A	ENSP00000308720:p.Gly27Asp					PRSS1_ENST00000311737.7_Missense_Mutation_p.G27D	p.G27D			P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		2	97	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	27			Peptidase S1.		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	c.80G>A	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.929197	0.52759	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243	D;D	0.96685	-4.09;-4.09	3.49	3.49	0.39957	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.048622	0.85682	D	0.000000	D	0.98623	0.9539	H	0.96239	3.79	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.99402	1.0928	10	0.87932	D	0	.	14.3966	0.67015	0.0:0.0:1.0:0.0	.	27	P07477	TRY1_HUMAN	D	27	ENSP00000417854:G27D;ENSP00000308720:G27D	ENSP00000308720:G27D	G	+	2	0	PRSS1	142138019	1.000000	0.71417	1.000000	0.80357	0.013000	0.08279	9.521000	0.98029	1.879000	0.54435	0.404000	0.27445	GGC		0.537	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			21	153	0	0	0	0.099896	0	21	153				
MYH4	4622	broad.mit.edu	37	17	10363395	10363395	+	Silent	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr17:10363395C>T	ENST00000255381.2	-	14	1400	c.1290G>A	c.(1288-1290)ctG>ctA	p.L430L	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	430	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGGCTTTGGCCAGAGCACCCA	0.473																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(1288-1290)ctG>ctA		myosin, heavy chain 4, skeletal muscle							202.0	185.0	191.0					17																	10363395		2203	4300	6503	SO:0001819	synonymous_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10363395C>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1290G>A	17.37:g.10363395C>T						CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.L430L	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			14	1400	-			430			Myosin head-like.			Silent	SNP	ENST00000255381.2	37	c.1290G>A	CCDS11154.1																																																																																				0.473	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		17	163	0	0	0	0.160694	0	17	163				
NEDD4	4734	broad.mit.edu	37	15	56134138	56134138	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr15:56134138G>A	ENST00000508342.1	-	15	3388	c.3089C>T	c.(3088-3090)tCt>tTt	p.S1030F	NEDD4_ENST00000506154.1_Missense_Mutation_p.S1014F|NEDD4_ENST00000338963.2_Missense_Mutation_p.S958F|NEDD4_ENST00000435532.3_Missense_Mutation_p.S611F	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1030	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)	p.S611C(1)|p.S958C(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TTACGTAGCAGAATATTCAAA	0.403																																						ENST00000508342.1																			2	Substitution - Missense(2)	p.S611C(1)|p.S958C(1)	endometrium(2)	breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(3088-3090)tCt>tTt		neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase							87.0	84.0	85.0					15																	56134138		2193	4292	6485	SO:0001583	missense	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56134138G>A	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.3089C>T	15.37:g.56134138G>A	ENSP00000424827:p.Ser1030Phe					NEDD4_ENST00000506154.1_Missense_Mutation_p.S1014F|NEDD4_ENST00000338963.2_Missense_Mutation_p.S958F|NEDD4_ENST00000435532.3_Missense_Mutation_p.S611F	p.S1030F			P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	15	3388	-			1030			HECT.		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37	c.3089C>T		.	.	.	.	.	.	.	.	.	.	G	29.5	5.009195	0.93346	.	.	ENSG00000069869	ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	6.07	6.07	0.98685	HECT (4);	0.000000	0.85682	D	0.000000	T	0.72455	0.3462	M	0.89030	3	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;1.0	T	0.76091	-0.3086	10	0.87932	D	0	.	19.6475	0.95784	0.0:0.0:1.0:0.0	.	1014;611;1030;958	P46934-2;P46934-4;P46934;P46934-3	.;.;NEDD4_HUMAN;.	F	1030;611;958;1014	ENSP00000424827:S1030F;ENSP00000410613:S611F;ENSP00000345530:S958F;ENSP00000422705:S1014F	ENSP00000345530:S958F	S	-	2	0	NEDD4	53921430	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.793000	0.99091	2.885000	0.99019	0.655000	0.94253	TCT		0.403	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		28	28	0	0	0	0.125774	0	28	28				
HUWE1	10075	broad.mit.edu	37	X	53613475	53613475	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chrX:53613475G>C	ENST00000342160.3	-	38	5256	c.4799C>G	c.(4798-4800)tCa>tGa	p.S1600*	HUWE1_ENST00000262854.6_Nonsense_Mutation_p.S1600*|HUWE1_ENST00000218328.8_Nonsense_Mutation_p.S1600*			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1600					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCTCCTTTTTGAGGAGATGGC	0.423																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(4798-4800)tCa>tGa		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							86.0	74.0	78.0					X																	53613475		2203	4300	6503	SO:0001587	stop_gained	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53613475G>C	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.4799C>G	X.37:g.53613475G>C	ENSP00000340648:p.Ser1600*					HUWE1_ENST00000262854.6_Nonsense_Mutation_p.S1600*|HUWE1_ENST00000218328.8_Nonsense_Mutation_p.S1600*	p.S1600*			Q7Z6Z7	HUWE1_HUMAN			38	5256	-			1600					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Nonsense_Mutation	SNP	ENST00000342160.3	37	c.4799C>G	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	G	48	13.898091	0.99769	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	.	.	.	4.91	4.91	0.64330	.	0.184414	0.36374	N	0.002635	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	16.0026	0.80306	0.0:0.0:1.0:0.0	.	.	.	.	X	1600	.	ENSP00000218328:S1600X	S	-	2	0	HUWE1	53630200	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.219000	0.95173	2.025000	0.59659	0.600000	0.82982	TCA		0.423	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		3	14	0	0	0	0.115264	0	3	14				
NBEAL2	23218	broad.mit.edu	37	3	47041650	47041650	+	Missense_Mutation	SNP	C	C	T	rs200629151	byFrequency	TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr3:47041650C>T	ENST00000450053.3	+	27	4240	c.4061C>T	c.(4060-4062)aCg>aTg	p.T1354M	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Intron	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1354					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCATTCTGCACGCCCTTTGAC	0.617													C|||	5	0.000998403	0.0023	0.0	5008	,	,		19275	0.002		0.0	False		,,,				2504	0.0					ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(4060-4062)aCg>aTg		neurobeachin-like 2		C	MET/THR	5,4175		0,5,2085	134.0	141.0	139.0		4061	0.6	0.0	3		139	2,8428		0,2,4213	yes	missense	NBEAL2	NM_015175.1	81	0,7,6298	TT,TC,CC		0.0237,0.1196,0.0555	benign	1354/2755	47041650	7,12603	2090	4215	6305	SO:0001583	missense	23218						binding	g.chr3:47041650C>T	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.4061C>T	3.37:g.47041650C>T	ENSP00000415034:p.Thr1354Met					NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Intron	p.T1354M	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	27	4240	+		Acute lymphoblastic leukemia(5;0.0534)	1354					O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	c.4061C>T	CCDS46817.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	8.118	0.780291	0.16120	0.001196	2.37E-4	ENSG00000160796	ENST00000450053	T	0.57436	0.4	5.48	0.588	0.17445	.	.	.	.	.	T	0.37865	0.1019	N	0.25647	0.755	0.09310	N	0.999999	B	0.09022	0.002	B	0.04013	0.001	T	0.24190	-1.0167	9	0.46703	T	0.11	.	10.2025	0.43094	0.0:0.6212:0.0:0.3788	.	1354	Q6ZNJ1	NBEL2_HUMAN	M	1354	ENSP00000415034:T1354M	ENSP00000415034:T1354M	T	+	2	0	NBEAL2	47016654	0.000000	0.05858	0.001000	0.08648	0.857000	0.48899	0.083000	0.14871	-0.183000	0.10585	-1.149000	0.01842	ACG		0.617	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		4	104	0	0	0	0.150653	0	4	104				
DPCR1	135656	broad.mit.edu	37	6	30919701	30919701	+	Silent	SNP	T	T	C	rs2517449	byFrequency	TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr6:30919701T>C	ENST00000462446.1	+	2	3488	c.3460T>C	c.(3460-3462)Ttg>Ctg	p.L1154L	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_5'UTR			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	311						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						AAGGACCACATTGGCCCATGA	0.473													T|||	1177	0.235024	0.0983	0.2133	5008	,	,		21802	0.2688		0.3579	False		,,,				2504	0.274					ENST00000462446.1																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						c.(3460-3462)Ttg>Ctg		diffuse panbronchiolitis critical region 1		T		623,3783	268.9+/-268.7	42,539,1622	125.0	126.0	126.0		3460	-2.2	0.0	6	dbSNP_100	126	3225,5375	487.8+/-372.2	588,2049,1663	yes	coding-synonymous	DPCR1	NM_080870.3		630,2588,3285	CC,CT,TT		37.5,14.1398,29.5863		1154/1394	30919701	3848,9158	2203	4300	6503	SO:0001819	synonymous_variant	135656					integral to membrane		g.chr6:30919701T>C	AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.3460T>C	6.37:g.30919701T>C						HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_5'UTR	p.L1154L			Q3MIW9	DPCR1_HUMAN			2	3488	+			293					C9IZC0|Q658M7|Q8WYN2	Silent	SNP	ENST00000462446.1	37	c.3460T>C	CCDS4692.2																																																																																				0.473	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076173.3	NM_080870		3	18	0	0	0	0.115264	0	3	18				
SYNJ2	8871	broad.mit.edu	37	6	158449945	158449945	+	Silent	SNP	C	C	G			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr6:158449945C>G	ENST00000355585.4	+	3	447	c.372C>G	c.(370-372)ctC>ctG	p.L124L	SYNJ2_ENST00000449859.2_Silent_p.L73L|SYNJ2_ENST00000367121.3_Silent_p.L124L|SYNJ2_ENST00000367122.2_Silent_p.L124L	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	124	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AGAAAATCCTCAGCTCGGGGG	0.512																																						ENST00000355585.4																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(370-372)ctC>ctG		synaptojanin 2							68.0	69.0	69.0					6																	158449945		2203	4300	6503	SO:0001819	synonymous_variant	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158449945C>G	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.372C>G	6.37:g.158449945C>G						SYNJ2_ENST00000367121.3_Silent_p.L124L|SYNJ2_ENST00000449859.2_Silent_p.L73L|SYNJ2_ENST00000367122.2_Silent_p.L124L	p.L124L	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	3	447	+			124			SAC.		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Silent	SNP	ENST00000355585.4	37	c.372C>G	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	C	2.406	-0.336432	0.05278	.	.	ENSG00000078269	ENST00000367113	.	.	.	4.87	1.85	0.25348	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4197	0.55514	0.1086:0.4195:0.472:0.0	.	.	.	.	X	99	.	.	S	+	2	0	SYNJ2	158369933	0.994000	0.37717	0.988000	0.46212	0.220000	0.24768	0.237000	0.17985	0.890000	0.36211	0.533000	0.62120	TCA		0.512	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			12	29	0	0	0	0.080935	0	12	29				
MUC16	94025	broad.mit.edu	37	19	9009703	9009703	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr19:9009703G>T	ENST00000397910.4	-	39	39226	c.39023C>A	c.(39022-39024)cCt>cAt	p.P13008H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13010					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CACCAGGAGAGGAACAGCTGC	0.453																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(39022-39024)cCt>cAt		mucin 16, cell surface associated							154.0	125.0	134.0					19																	9009703		1950	4132	6082	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9009703G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39023C>A	19.37:g.9009703G>T	ENSP00000381008:p.Pro13008His						p.P13008H	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			39	39226	-			13010					Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.39023C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	10.66	1.412473	0.25465	.	.	ENSG00000181143	ENST00000397910;ENST00000441155	T	0.34072	1.38	2.91	2.91	0.33838	.	.	.	.	.	T	0.61527	0.2354	M	0.87547	2.89	.	.	.	D	0.89917	1.0	D	0.87578	0.998	T	0.74087	-0.3778	8	0.87932	D	0	-0.5502	9.9218	0.41468	0.0:0.0:1.0:0.0	.	13008	B5ME49	.	H	13008;161	ENSP00000381008:P13008H	ENSP00000381008:P13008H	P	-	2	0	MUC16	8870703	0.035000	0.19736	0.008000	0.14137	0.033000	0.12548	1.451000	0.35145	1.572000	0.49736	0.305000	0.20034	CCT		0.453	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	59	1	0	5.9392e-07	0.217242	6.70064e-07	5	59				
WDR88	126248	broad.mit.edu	37	19	33623312	33623312	+	Silent	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr19:33623312G>A	ENST00000355868.3	+	1	313	c.237G>A	c.(235-237)ccG>ccA	p.P79P	WDR88_ENST00000361680.2_Silent_p.P79P|WDR88_ENST00000592765.1_Silent_p.P79P	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	79										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					ACCAGGTGCCGGAGAAATTGA	0.657																																						ENST00000361680.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25						c.(235-237)ccG>ccA		WD repeat domain 88							60.0	61.0	61.0					19																	33623312		2203	4300	6503	SO:0001819	synonymous_variant	126248							g.chr19:33623312G>A	BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359		"""WD repeat domain containing"""	26999	protein-coding gene	gene with protein product			"""PQQ repeat and WD repeat domain containing"""	PQWD		12477932	Standard	NM_173479		Approved		uc002nui.3	Q6ZMY6		ENST00000355868.3:c.237G>A	19.37:g.33623312G>A						WDR88_ENST00000355868.3_Silent_p.P79P|WDR88_ENST00000592765.1_Silent_p.P79P	p.P79P			Q6ZMY6	WDR88_HUMAN			1	315	+	Esophageal squamous(110;0.137)		79					Q8NEF8	Silent	SNP	ENST00000355868.3	37	c.237G>A	CCDS12429.1																																																																																				0.657	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450840.1	NM_173479		12	43	0	0	0	0.080935	0	12	43				
ERBB2	2064	broad.mit.edu	37	17	37883113	37883113	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr17:37883113C>T	ENST00000269571.5	+	25	3175	c.3016C>T	c.(3016-3018)Cgc>Tgc	p.R1006C	ERBB2_ENST00000445658.2_Missense_Mutation_p.R730C|ERBB2_ENST00000406381.2_Missense_Mutation_p.R976C|ERBB2_ENST00000584601.1_Missense_Mutation_p.R976C|ERBB2_ENST00000541774.1_Missense_Mutation_p.R991C|ERBB2_ENST00000540147.1_Missense_Mutation_p.R976C|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000584450.1_Missense_Mutation_p.R1006C|MIEN1_ENST00000474210.1_5'Flank			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1006					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CACCTTCTACCGCTCACTGCT	0.637		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												ENST00000406381.2		1		Dom	yes		17	17q21.1	2064	"""A, Mis, O"""	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			"""breast, ovarian, other tumour types, NSCLC, gastric"""		0				NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247						c.(2926-2928)Cgc>Tgc		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						99.0	99.0	99.0					17																	37883113		2203	4300	6503	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37883113C>T	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.3016C>T	17.37:g.37883113C>T	ENSP00000269571:p.Arg1006Cys	TCGA GBM(5;<1E-08)				ERBB2_ENST00000269571.5_Missense_Mutation_p.R1006C|ERBB2_ENST00000584450.1_Missense_Mutation_p.R1006C|ERBB2_ENST00000584601.1_Missense_Mutation_p.R976C|ERBB2_ENST00000445658.2_Missense_Mutation_p.R730C|ERBB2_ENST00000541774.1_Missense_Mutation_p.R991C|ERBB2_ENST00000540147.1_Missense_Mutation_p.R976C	p.R976C	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	27	3436	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	1006			Protein kinase.		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.2926C>T	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.152781	0.38021	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.78003	-1.13;-1.14;-1.12;-1.14;-1.13	5.63	3.53	0.40419	Protein kinase-like domain (1);	.	.	.	.	T	0.81692	0.4876	M	0.76170	2.325	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	P;P;P	0.57152	0.7;0.654;0.814	T	0.81826	-0.0754	9	0.87932	D	0	.	5.3459	0.16008	0.1458:0.6343:0.1414:0.0785	.	730;991;1006	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	C	976;991;730;1006;976	ENSP00000385185:R976C;ENSP00000446466:R991C;ENSP00000404047:R730C;ENSP00000269571:R1006C;ENSP00000443562:R976C	ENSP00000269571:R1006C	R	+	1	0	ERBB2	35136639	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.888000	0.39708	1.374000	0.46228	0.655000	0.94253	CGC		0.637	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			14	58	0	0	0	0.132662	0	14	58				
LRP1B	53353	broad.mit.edu	37	2	141359128	141359128	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr2:141359128T>C	ENST00000389484.3	-	42	7851	c.6880A>G	c.(6880-6882)Acc>Gcc	p.T2294A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2294					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)		GTGTGTCTGGTGATGGATGAG	0.512										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.(6880-6882)Acc>Gcc		low density lipoprotein receptor-related protein 1B							144.0	119.0	128.0					2																	141359128		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141359128T>C	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.6880A>G	2.37:g.141359128T>C	ENSP00000374135:p.Thr2294Ala	TSP Lung(27;0.18)					p.T2294A	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)	42	7851	-		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)	2294					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.6880A>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	18.32	3.598568	0.66332	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90955	-2.76	5.04	5.04	0.67666	Six-bladed beta-propeller, TolB-like (1);	0.202380	0.41294	D	0.000913	D	0.85957	0.5818	L	0.48642	1.525	0.40171	D	0.977171	P	0.37441	0.595	B	0.34931	0.192	D	0.84284	0.0496	10	0.14252	T	0.57	.	15.0609	0.71951	0.0:0.0:0.0:1.0	.	2294	Q9NZR2	LRP1B_HUMAN	A	2294;2232	ENSP00000374135:T2294A	ENSP00000374135:T2294A	T	-	1	0	LRP1B	141075598	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	7.949000	0.87791	2.015000	0.59207	0.459000	0.35465	ACC		0.512	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		9	29	0	0	0	0.047766	0	9	29				
SLC4A11	83959	broad.mit.edu	37	20	3211199	3211199	+	Silent	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr20:3211199G>A	ENST00000380056.3	-	11	1472	c.1425C>T	c.(1423-1425)gcC>gcT	p.A475A	SLC4A11_ENST00000488544.1_5'Flank|SLC4A11_ENST00000539553.2_Silent_p.A459A|SLC4A11_ENST00000380059.3_Silent_p.A502A	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	475	Membrane (bicarbonate transporter).				bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GGTTGAAAAAGGCATAAAGCG	0.532																																					NSCLC(190;922 2139 10266 10292 38692)	ENST00000380059.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						c.(1504-1506)gcC>gcT		solute carrier family 4, sodium borate transporter, member 11							108.0	107.0	108.0					20																	3211199		2203	4300	6503	SO:0001819	synonymous_variant	83959				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	g.chr20:3211199G>A	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.1425C>T	20.37:g.3211199G>A						SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Silent_p.A475A|SLC4A11_ENST00000539553.1_Silent_p.A459A	p.A502A	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN			12	1607	-			475			Membrane (bicarbonate transporter).		B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Silent	SNP	ENST00000380056.3	37	c.1506C>T	CCDS13052.1																																																																																				0.532	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			16	57	0	0	0	0.160694	0	16	57				
IGHM	3507	broad.mit.edu	37	14	106322248	106322248	+	RNA	SNP	C	C	T	rs372261472	byFrequency	TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr14:106322248C>T	ENST00000390559.2	-	0	75				AL122127.1_ENST00000581354.1_RNA|AL122127.2_ENST00000581918.1_RNA|hsa-mir-4538_ENST00000581318.1_RNA|hsa-mir-4539_ENST00000579784.1_RNA|AL122127.5_ENST00000582202.1_RNA|AL122127.4_ENST00000581720.1_RNA			P01871	IGHM_HUMAN	immunoglobulin heavy constant mu						adaptive immune response (GO:0002250)|antibacterial humoral response (GO:0019731)|defense response to Gram-negative bacterium (GO:0050829)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hexameric IgM immunoglobulin complex (GO:0071757)|integral component of membrane (GO:0016021)|pentameric IgM immunoglobulin complex (GO:0071756)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										AGGCAGCCAACGGCCACGCTG	0.577													.|||	10	0.00199681	0.003	0.0	5008	,	,		12576	0.0		0.0	False		,,,				2504	0.0061					ENST00000390559.2																			0															C		6,4112		0,6,2053	43.0	43.0	43.0			-9.3	0.0	14		43	0,8400		0,0,4200	no	intergenic				0,6,6253	TT,TC,CC		0.0,0.1457,0.0479			106322248	6,12512	2059	4200	6259			3507							g.chr14:106322248C>T	X14940		14q32.33	2012-10-02			ENSG00000211899	ENSG00000211899		"""Immunoglobulins / IGH locus"""	5541	other	immunoglobulin gene		147020				2115996	Standard	NG_001019		Approved			P01871	OTTHUMG00000152452		14.37:g.106322248C>T														0	75	-								P20769	RNA	SNP	ENST00000390559.2	37																																																																																						0.577	IGHM-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326272.1	NG_001019		7	9	0	0	0	0.029380	0	7	9				
EBAG9	9166	broad.mit.edu	37	8	110575682	110575682	+	Intron	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr8:110575682C>T	ENST00000337573.5	+	7	821				EBAG9_ENST00000531677.1_Missense_Mutation_p.T193I|EBAG9_ENST00000395785.2_Intron	NM_001278938.1|NM_004215.3	NP_001265867.1|NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9						regulation of cell growth (GO:0001558)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	peptidase activator activity involved in apoptotic process (GO:0016505)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			CCCACTCCTACCTCCACTCCC	0.428																																						ENST00000531677.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10						c.(577-579)aCc>aTc		estrogen receptor binding site associated, antigen, 9							434.0	396.0	407.0					8																	110575682		876	1991	2867	SO:0001627	intron_variant	9166				apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity	g.chr8:110575682C>T	AB007619	CCDS6313.1	8q23	2013-03-07			ENSG00000147654	ENSG00000147654			3123	protein-coding gene	gene with protein product		605772					Standard	NM_004215		Approved	EB9, RCAS1	uc003ynf.3	O00559	OTTHUMG00000165346	ENST00000337573.5:c.522-986C>T	8.37:g.110575682C>T						EBAG9_ENST00000395785.2_Intron|EBAG9_ENST00000337573.5_Intron	p.T193I			O00559	RCAS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)		6	578	+			174					A8K3N6|Q5Y8C7|Q6IB20|Q9BS76	Missense_Mutation	SNP	ENST00000337573.5	37	c.578C>T	CCDS6313.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.013802	0.35511	.	.	ENSG00000147654	ENST00000531677	.	.	.	2.89	-1.53	0.08611	.	1.636230	0.03470	N	0.213478	T	0.33469	0.0864	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27773	-1.0064	6	0.52906	T	0.07	4.3819	3.5762	0.07936	0.0:0.3273:0.2181:0.4546	.	.	.	.	I	193	.	ENSP00000432082:T193I	T	+	2	0	EBAG9	110644858	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.757000	0.04772	-0.364000	0.08088	-0.150000	0.13652	ACC		0.428	EBAG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383536.1	NM_004215		47	138	0	0	0	0.139131	0	47	138				
ZNF613	79898	broad.mit.edu	37	19	52443551	52443551	+	Silent	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr19:52443551C>T	ENST00000293471.6	+	4	784	c.105C>T	c.(103-105)gaC>gaT	p.D35D	ZNF613_ENST00000391794.4_5'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	35	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		TGTACCGAGACGTGATGTTGG	0.542																																						ENST00000293471.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(103-105)gaC>gaT		zinc finger protein 613							162.0	145.0	151.0					19																	52443551		2203	4300	6503	SO:0001819	synonymous_variant	79898				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52443551C>T	AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.105C>T	19.37:g.52443551C>T						ZNF613_ENST00000391794.4_5'UTR	p.D35D	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)	4	784	+		all_neural(266;0.117)	35			KRAB.		Q96SS9	Silent	SNP	ENST00000293471.6	37	c.105C>T	CCDS33089.1																																																																																				0.542	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	NM_024840		26	102	0	0	0	0.134883	0	26	102				
CELF1	10658	broad.mit.edu	37	11	47504267	47504267	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr11:47504267G>T	ENST00000358597.3	-	6	666	c.667C>A	c.(667-669)Ctt>Att	p.L223I	CELF1_ENST00000395292.2_Missense_Mutation_p.L223I|CELF1_ENST00000395290.2_Missense_Mutation_p.L222I|CELF1_ENST00000532048.1_Missense_Mutation_p.L249I|CELF1_ENST00000361904.3_Missense_Mutation_p.L223I|CELF1_ENST00000531165.1_Missense_Mutation_p.L250I|CELF1_ENST00000310513.5_Missense_Mutation_p.L223I			Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	223					embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of translation (GO:0017148)|positive regulation of multicellular organism growth (GO:0040018)|regulation of RNA splicing (GO:0043484)|RNA interference (GO:0016246)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation repressor activity, nucleic acid binding (GO:0000900)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						TGGGGTCCAAGAGTATTTAGA	0.502																																					Pancreas(163;1949 1966 9906 43218 43785)	ENST00000395290.2																			0				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						c.(664-666)Ctt>Att		CUGBP, Elav-like family member 1							121.0	109.0	113.0					11																	47504267		2201	4298	6499	SO:0001583	missense	10658				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr11:47504267G>T	U63289	CCDS7938.1, CCDS7939.1, CCDS31482.1, CCDS53622.1, CCDS53623.1	11p11	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	2549	protein-coding gene	gene with protein product	"""CUG RNA-binding protein"", ""nuclear polyadenylated RNA-binding protein, 50-kD"", ""bruno-like 2"", ""embryo deadenylation element binding protein"""	601074	"""CUG triplet repeat, RNA-binding protein 1"", ""CUG triplet repeat, RNA binding protein 1"""	CUGBP1		8948631, 9371827	Standard	NM_006560		Approved	CUG-BP, hNab50, BRUNOL2, NAB50, CUGBP, NAPOR, EDEN-BP	uc001nfl.3	Q92879		ENST00000358597.3:c.667C>A	11.37:g.47504267G>T	ENSP00000351409:p.Leu223Ile					CELF1_ENST00000395292.2_Missense_Mutation_p.L223I|CELF1_ENST00000310513.5_Missense_Mutation_p.L223I|CELF1_ENST00000361904.3_Missense_Mutation_p.L223I|CELF1_ENST00000532048.1_Missense_Mutation_p.L249I|CELF1_ENST00000531165.1_Missense_Mutation_p.L250I|CELF1_ENST00000358597.3_Missense_Mutation_p.L223I	p.L222I	NM_001025596.2|NM_001172640.1	NP_001020767.1|NP_001166111.1	Q92879	CELF1_HUMAN			6	673	-			223					B4E2U5|D3DQS0|F8W940|Q4LE52|Q9NP83|Q9NR06	Missense_Mutation	SNP	ENST00000358597.3	37	c.664C>A	CCDS31482.1	.	.	.	.	.	.	.	.	.	.	g	23.2	4.382026	0.82792	.	.	ENSG00000149187	ENST00000395290;ENST00000358597;ENST00000395292;ENST00000310513;ENST00000361904;ENST00000531165;ENST00000532048	T;T;T;T;T;T;T	0.22539	1.97;1.96;2.43;2.39;2.43;1.97;1.95	5.67	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.44582	0.1300	M	0.79475	2.455	0.80722	D	1	D;D;B;B;D;B	0.65815	0.994;0.994;0.154;0.154;0.995;0.096	D;D;B;B;D;B	0.79108	0.992;0.992;0.032;0.032;0.92;0.014	T	0.26849	-1.0091	10	0.44086	T	0.13	-10.1235	11.2202	0.48851	0.1409:0.0:0.8591:0.0	.	222;250;249;223;223;223	F8W940;G5EA30;Q92879-4;Q92879-2;Q92879-3;Q92879	.;.;.;.;.;CELF1_HUMAN	I	222;223;223;223;223;250;249	ENSP00000378705:L222I;ENSP00000351409:L223I;ENSP00000378706:L223I;ENSP00000308386:L223I;ENSP00000354639:L223I;ENSP00000436864:L250I;ENSP00000435926:L249I	ENSP00000308386:L223I	L	-	1	0	CELF1	47460843	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.168000	0.58216	2.661000	0.90470	0.651000	0.88453	CTT		0.502	CELF1-024	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398352.1	NM_006560		10	33	1	0	3.07112e-06	0.080935	3.42099e-06	10	33				
INTS8	55656	broad.mit.edu	37	8	95866050	95866050	+	Silent	SNP	C	C	G			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr8:95866050C>G	ENST00000523731.1	+	14	1792	c.1659C>G	c.(1657-1659)gtC>gtG	p.V553V	INTS8_ENST00000447247.1_Silent_p.V553V|INTS8_ENST00000520845.1_3'UTR	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	553					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					TACCTTCTGTCTATAGTGGTG	0.333																																						ENST00000523731.1																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28						c.(1657-1659)gtC>gtG		integrator complex subunit 8							171.0	177.0	175.0					8																	95866050		2203	4300	6503	SO:0001819	synonymous_variant	55656				snRNA processing	integrator complex	protein binding	g.chr8:95866050C>G	AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"""chromosome 8 open reading frame 52"""	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.1659C>G	8.37:g.95866050C>G						INTS8_ENST00000520845.1_3'UTR|INTS8_ENST00000447247.1_Silent_p.V553V	p.V553V	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN			14	1792	+	Breast(36;1.05e-06)		553					B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Silent	SNP	ENST00000523731.1	37	c.1659C>G	CCDS34925.1	.	.	.	.	.	.	.	.	.	.	C	8.819	0.937134	0.18206	.	.	ENSG00000164941	ENST00000520526	.	.	.	5.72	-7.09	0.01553	.	.	.	.	.	T	0.34978	0.0916	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41034	-0.9531	4	.	.	.	-26.6786	1.8562	0.03179	0.2687:0.0904:0.3471:0.2938	.	.	.	.	C	375	.	.	S	+	2	0	INTS8	95935226	0.767000	0.28508	0.908000	0.35775	0.995000	0.86356	-0.110000	0.10824	-1.105000	0.03011	0.655000	0.94253	TCT		0.333	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1	NM_017864		18	64	0	0	0	0.204396	0	18	64				
TBX19	9095	broad.mit.edu	37	1	168274332	168274332	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr1:168274332G>T	ENST00000367821.3	+	6	865	c.814G>T	c.(814-816)Gct>Tct	p.A272S		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	272					anatomical structure morphogenesis (GO:0009653)|cell fate commitment (GO:0045165)|pituitary gland development (GO:0021983)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					GCCTCTGCCTGCTCCCCACAC	0.552																																						ENST00000367821.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34						c.(814-816)Gct>Tct		T-box 19							151.0	141.0	144.0					1																	168274332		2203	4300	6503	SO:0001583	missense	9095				anatomical structure morphogenesis	nucleus	DNA binding	g.chr1:168274332G>T	AJ010277	CCDS1272.1	1q23-q24	2008-02-05			ENSG00000143178	ENSG00000143178		"""T-boxes"""	11596	protein-coding gene	gene with protein product	"""TBS 19"""	604614				9888994	Standard	NM_005149		Approved	dj747L4.1, TPIT	uc001gfl.3	O60806	OTTHUMG00000034648	ENST00000367821.3:c.814G>T	1.37:g.168274332G>T	ENSP00000356795:p.Ala272Ser						p.A272S	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN			6	865	+	all_hematologic(923;0.215)		272					Q52M53	Missense_Mutation	SNP	ENST00000367821.3	37	c.814G>T	CCDS1272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.423|7.423	0.637133|0.637133	0.14386|0.14386	.|.	.|.	ENSG00000143178|ENSG00000143178	ENST00000367821|ENST00000441464	D|.	0.95756|.	-3.8|.	5.62|5.62	3.72|3.72	0.42706|0.42706	.|.	0.294703|.	0.33732|.	N|.	0.004611|.	T|T	0.08582|0.08582	0.0213|0.0213	N|N	0.01242|0.01242	-0.935|-0.935	.|.	.|.	.|.	B|.	0.26635|.	0.155|.	B|.	0.25759|.	0.063|.	T|T	0.16958|0.16958	-1.0385|-1.0385	9|4	0.05721|.	T|.	0.95|.	.|.	14.4133|14.4133	0.67132|0.67132	0.0:0.2802:0.7198:0.0|0.0:0.2802:0.7198:0.0	.|.	272|.	O60806|.	TBX19_HUMAN|.	S|F	272|104	ENSP00000356795:A272S|.	ENSP00000356795:A272S|.	A|C	+|+	1|2	0|0	TBX19|TBX19	166540956|166540956	0.868000|0.868000	0.29978|0.29978	0.998000|0.998000	0.56505|0.56505	0.830000|0.830000	0.47004|0.47004	1.665000|1.665000	0.37449|0.37449	0.704000|0.704000	0.31869|0.31869	0.561000|0.561000	0.74099|0.74099	GCT|TGC		0.552	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083825.1	NM_005149		22	54	1	0	7.41877e-09	0.234183	8.59016e-09	22	54				
CYP8B1	1582	broad.mit.edu	37	3	42915828	42915828	+	Missense_Mutation	SNP	C	C	T	rs145159025		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr3:42915828C>T	ENST00000316161.4	-	1	1805	c.1481G>A	c.(1480-1482)cGc>cAc	p.R494H	KRBOX1_ENST00000426937.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA|CYP8B1_ENST00000437102.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	494					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity (GO:0033778)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|sterol 12-alpha-hydroxylase activity (GO:0008397)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CAGGCGGTAGCGGAAGCGCAC	0.582													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18700	0.0		0.0	False		,,,				2504	0.0					ENST00000316161.4																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23						c.(1480-1482)cGc>cAc		cytochrome P450, family 8, subfamily B, polypeptide 1							42.0	42.0	42.0					3																	42915828		2203	4300	6503	SO:0001583	missense	1582				bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity	g.chr3:42915828C>T	AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432		"""Cytochrome P450s"""	2653	protein-coding gene	gene with protein product		602172	"""cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1"""			10051404	Standard	NM_004391		Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000316161.4:c.1481G>A	3.37:g.42915828C>T	ENSP00000318867:p.Arg494His					CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000471537.1_Intron|KRBOX1_ENST00000426937.1_Intron	p.R494H	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)	1	1805	-			494					B2RCY3|O75958|Q6NWT2|Q6NWT3	Missense_Mutation	SNP	ENST00000316161.4	37	c.1481G>A	CCDS2707.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	16.17	3.046259	0.55110	.	.	ENSG00000180432	ENST00000316161	T	0.01422	4.91	5.25	4.37	0.52481	.	0.087781	0.46145	U	0.000317	T	0.09512	0.0234	M	0.87038	2.855	0.39619	D	0.969991	D	0.89917	1.0	D	0.67725	0.953	T	0.01630	-1.1308	10	0.87932	D	0	-12.9645	14.3249	0.66512	0.1493:0.8507:0.0:0.0	.	494	Q9UNU6	CP8B1_HUMAN	H	494	ENSP00000318867:R494H	ENSP00000318867:R494H	R	-	2	0	CYP8B1	42890832	0.996000	0.38824	0.936000	0.37596	0.057000	0.15508	3.103000	0.50298	1.197000	0.43143	0.462000	0.41574	CGC		0.582	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256653.1	NM_004391		7	31	0	0	0	0.038147	0	7	31				
MSLN	10232	broad.mit.edu	37	16	815614	815614	+	Silent	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr16:815614G>A	ENST00000382862.3	+	9	887	c.792G>A	c.(790-792)ccG>ccA	p.P264P	MSLN_ENST00000566549.1_Silent_p.P264P|MSLN_ENST00000563941.1_Silent_p.P264P|MSLN_ENST00000545450.2_Silent_p.P264P	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	264	Required for megakaryocyte-potentiating factor activity.				cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GCAGCATCCCGCAGGTGAGAC	0.706																																						ENST00000566549.1																			0				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20						c.(790-792)ccG>ccA		mesothelin							27.0	29.0	28.0					16																	815614		2171	4280	6451	SO:0001819	synonymous_variant	10232				cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane		g.chr16:815614G>A	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.792G>A	16.37:g.815614G>A						MSLN_ENST00000382862.3_Silent_p.P264P|MSLN_ENST00000563941.1_Silent_p.P264P|MSLN_ENST00000545450.2_Silent_p.P264P	p.P264P			Q13421	MSLN_HUMAN			9	1209	+		Hepatocellular(780;0.00335)	264			Required for megakaryocyte-potentiating factor activity.		D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Silent	SNP	ENST00000382862.3	37	c.792G>A	CCDS32356.1																																																																																				0.706	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2			5	15	0	0	0	0.184627	0	5	15				
GPRIN1	114787	broad.mit.edu	37	5	176025296	176025296	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr5:176025296C>T	ENST00000303991.4	-	2	1717	c.1540G>A	c.(1540-1542)Gcg>Acg	p.A514T		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	514					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCCCCGTCGCTGGCTCAGCC	0.627																																						ENST00000303991.4																			0				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1540-1542)Gcg>Acg		G protein regulated inducer of neurite outgrowth 1							62.0	65.0	64.0					5																	176025296		2203	4300	6503	SO:0001583	missense	114787					growth cone|plasma membrane		g.chr5:176025296C>T	AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.1540G>A	5.37:g.176025296C>T	ENSP00000305839:p.Ala514Thr						p.A514T	NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	1717	-	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	514					C9JM70|Q8ND74|Q96PZ4	Missense_Mutation	SNP	ENST00000303991.4	37	c.1540G>A	CCDS4405.1	.	.	.	.	.	.	.	.	.	.	C	6.934	0.542109	0.13250	.	.	ENSG00000169258	ENST00000303991;ENST00000335532	T	0.09163	3.01	3.89	2.91	0.33838	.	1.137900	0.06928	N	0.810527	T	0.05823	0.0152	N	0.14661	0.345	0.09310	N	1	B	0.18310	0.027	B	0.14023	0.01	T	0.40156	-0.9578	10	0.13853	T	0.58	-0.0011	4.1532	0.10247	0.0:0.6156:0.2455:0.1389	.	514	Q7Z2K8	GRIN1_HUMAN	T	514	ENSP00000305839:A514T	ENSP00000305839:A514T	A	-	1	0	GPRIN1	175957902	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	0.375000	0.20518	2.013000	0.59113	0.455000	0.32223	GCG		0.627	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1	NM_052899		12	34	0	0	0	0.080935	0	12	34				
SPTA1	6708	broad.mit.edu	37	1	158631136	158631136	+	Missense_Mutation	SNP	G	G	A	rs369695627		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr1:158631136G>A	ENST00000368147.4	-	18	2708	c.2528C>T	c.(2527-2529)gCc>gTc	p.A843V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	843					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTCATGGCTGGCAATGTTCTC	0.423																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(2527-2529)gCc>gTc		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		G	VAL/ALA	1,3877		0,1,1938	224.0	218.0	220.0		2528	-4.5	0.1	1		220	0,8296		0,0,4148	no	missense	SPTA1	NM_003126.2	64	0,1,6086	AA,AG,GG		0.0,0.0258,0.0082	benign	843/2420	158631136	1,12173	1939	4148	6087	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158631136G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2528C>T	1.37:g.158631136G>A	ENSP00000357129:p.Ala843Val					SPTA1_ENST00000368147.3_Missense_Mutation_p.A843V	p.A843V	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			18	2708	-	all_hematologic(112;0.0378)		843					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.2528C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.467231	0.26335	2.58E-4	0.0	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.54279	0.58;0.58	4.93	-4.48	0.03515	.	.	.	.	.	T	0.27933	0.0688	M	0.63843	1.955	0.09310	N	1	B	0.24576	0.106	B	0.35353	0.201	T	0.51973	-0.8637	9	0.41790	T	0.15	.	6.2347	0.20756	0.0659:0.1062:0.288:0.5399	.	843	P02549	SPTA1_HUMAN	V	843	ENSP00000357130:A843V;ENSP00000357129:A843V	ENSP00000357129:A843V	A	-	2	0	SPTA1	156897760	1.000000	0.71417	0.088000	0.20740	0.088000	0.18126	1.719000	0.38011	-0.623000	0.05618	-0.175000	0.13238	GCC		0.423	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		4	81	0	0	0	0.150653	0	4	81				
CACNA1S	779	broad.mit.edu	37	1	201022706	201022706	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr1:201022706C>T	ENST00000362061.3	-	30	3902	c.3676G>A	c.(3676-3678)Gag>Aag	p.E1226K	CACNA1S_ENST00000367338.3_Missense_Mutation_p.E1207K	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1226					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CGGGCACTCTCATCTGGGTCC	0.642																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(3676-3678)Gag>Aag		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						39.0	41.0	41.0					1																	201022706		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201022706C>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.3676G>A	1.37:g.201022706C>T	ENSP00000355192:p.Glu1226Lys					CACNA1S_ENST00000367338.3_Missense_Mutation_p.E1207K	p.E1226K	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			30	3902	-			1226					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.3676G>A	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	.	18.44	3.624616	0.66901	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98474	-3.92;-4.95	4.05	4.05	0.47172	Ion transport (1);	0.202931	0.41938	D	0.000788	D	0.97611	0.9217	L	0.42529	1.33	0.58432	D	0.999993	P	0.42649	0.786	P	0.51945	0.685	D	0.97925	1.0317	10	0.48119	T	0.1	.	16.8345	0.85953	0.0:1.0:0.0:0.0	.	1226	Q13698	CAC1S_HUMAN	K	1226;1207	ENSP00000355192:E1226K;ENSP00000356307:E1207K	ENSP00000355192:E1226K	E	-	1	0	CACNA1S	199289329	1.000000	0.71417	0.997000	0.53966	0.929000	0.56500	5.446000	0.66600	2.265000	0.75225	0.586000	0.80456	GAG		0.642	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		3	35	0	0	0	0.115264	0	3	35				
MTERF4	130916	broad.mit.edu	37	2	242035518	242035518	+	Missense_Mutation	SNP	A	A	C	rs142629642|rs10203977		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr2:242035518A>C	ENST00000391980.2	-	4	1099	c.1041T>G	c.(1039-1041)gaT>gaG	p.D347E	MTERFD2_ENST00000495694.1_Intron|MTERFD2_ENST00000406593.1_Missense_Mutation_p.D159E|MTERFD2_ENST00000464344.2_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		347			D -> E (in dbSNP:rs10203977).		rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	rRNA binding (GO:0019843)			endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		tgtcctcctcatcatcgtcat	0.517																																						ENST00000391980.2																			0				endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20						c.(1039-1041)gaT>gaG		MTERF domain containing 2							285.0	202.0	230.0					2																	242035518		2203	4300	6503	SO:0001583	missense	130916							g.chr2:242035518A>C																												ENST00000391980.2:c.1041T>G	2.37:g.242035518A>C	ENSP00000375840:p.Asp347Glu					MTERFD2_ENST00000495694.1_Intron|MTERFD2_ENST00000406593.1_Missense_Mutation_p.D159E	p.D347E	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)	4	1099	-		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	347		D -> E (in dbSNP:rs10203977).			A8K6K0|Q9P0E0	Missense_Mutation	SNP	ENST00000391980.2	37	c.1041T>G	CCDS2544.1	.	.	.	.	.	.	.	.	.	.	A	8.721	0.914430	0.17907	.	.	ENSG00000122085	ENST00000391980;ENST00000406593	T;T	0.66815	4.29;-0.23	2.01	-4.02	0.04034	.	.	.	.	.	T	0.34483	0.0899	N	0.08118	0	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.13469	-1.0508	9	0.18276	T	0.48	.	1.5581	0.02589	0.1711:0.2675:0.3942:0.1672	rs10203977;rs10203977	347	Q7Z6M4	MTER2_HUMAN	E	347;159	ENSP00000375840:D347E;ENSP00000384998:D159E	ENSP00000241527:D347E	D	-	3	2	MTERFD2	241684191	0.000000	0.05858	0.010000	0.14722	0.044000	0.14063	-3.143000	0.00585	-1.486000	0.01851	0.055000	0.15244	GAT		0.517	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323798.4			22	28	0	0	0	0.234183	0	22	28				
SGMS1-AS1	104355295	broad.mit.edu	37	10	52390227	52390227	+	RNA	SNP	C	C	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr10:52390227C>A	ENST00000443374.2	+	0	1416				RP11-50E11.3_ENST00000609579.1_RNA																							TGTTGTCTAGCAGATAAGATT	0.383																																						ENST00000443374.1																			0																																																			104355295							g.chr10:52390227C>A																													10.37:g.52390227C>A														0	920	+									RNA	SNP	ENST00000443374.2	37																																																																																						0.383	RP11-50E11.3-001	KNOWN	basic	antisense	antisense	OTTHUMT00000048071.2			3	8	1	0	0.004672	0.115264	0.00483689	3	8				
LILRB1	10859	broad.mit.edu	37	19	55146110	55146110	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr19:55146110G>T	ENST00000396331.1	+	11	1736	c.1379G>T	c.(1378-1380)gGg>gTg	p.G460V	LILRB1_ENST00000434867.2_Missense_Mutation_p.G460V|LILRB1_ENST00000396317.1_Missense_Mutation_p.G444V|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_Missense_Mutation_p.G460V|LILRB1_ENST00000396315.1_Missense_Mutation_p.G461V|LILRB1_ENST00000418536.2_Missense_Mutation_p.G444V|LILRB1_ENST00000396327.3_Missense_Mutation_p.G461V|LILRB1_ENST00000324602.7_Missense_Mutation_p.G461V|LILRB1_ENST00000427581.2_Missense_Mutation_p.G510V|LILRB1_ENST00000448689.1_Missense_Mutation_p.G460V|LILRB1_ENST00000396332.4_Missense_Mutation_p.G460V	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	460					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		AGGCACCTGGGGGTTGTGATC	0.572										HNSCC(37;0.09)																												ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(1378-1380)gGg>gTg		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1							115.0	89.0	98.0					19																	55146110		2203	4300	6503	SO:0001583	missense	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55146110G>T	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1379G>T	19.37:g.55146110G>T	ENSP00000379622:p.Gly460Val	HNSCC(37;0.09)				LILRB1_ENST00000448689.1_Missense_Mutation_p.G460V|LILRB1_ENST00000434867.2_Missense_Mutation_p.G460V|LILRB1_ENST00000427581.2_Missense_Mutation_p.G510V|LILRB1_ENST00000418536.2_Missense_Mutation_p.G444V|LILRB1_ENST00000396315.1_Missense_Mutation_p.G461V|LILRB1_ENST00000396317.1_Missense_Mutation_p.G444V|LILRB1_ENST00000396321.2_Missense_Mutation_p.G460V|LILRB1_ENST00000324602.7_Missense_Mutation_p.G461V|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396327.3_Missense_Mutation_p.G461V|LILRB1_ENST00000396332.4_Missense_Mutation_p.G460V	p.G460V	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	11	1736	+			460					A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.1379G>T	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	G	2.689	-0.273581	0.05679	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.00507	7.04;7.12;6.96;7.04;7.01;6.99;7.04;7.03;6.92;7.12;6.99	1.63	-0.732	0.11147	.	6.669080	0.00481	U	0.000123	T	0.00784	0.0026	M	0.81497	2.545	0.09310	N	1	B;B;P;B;P;P	0.44734	0.042;0.013;0.604;0.015;0.842;0.469	B;B;B;B;B;B	0.43251	0.071;0.01;0.299;0.007;0.413;0.209	T	0.50482	-0.8823	10	0.29301	T	0.29	.	4.304	0.10938	0.5473:0.0:0.4527:0.0	.	444;460;461;460;461;460	A8MVE2;D9IDM5;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;.;LIRB1_HUMAN	V	460;444;460;460;461;461;460;460;510;444;461	ENSP00000379614:G460V;ENSP00000391514:G444V;ENSP00000409968:G460V;ENSP00000379622:G460V;ENSP00000379618:G461V;ENSP00000315997:G461V;ENSP00000405243:G460V;ENSP00000379623:G460V;ENSP00000395004:G510V;ENSP00000379610:G444V;ENSP00000379608:G461V	ENSP00000315997:G461V	G	+	2	0	LILRB1	59837922	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-1.151000	0.03175	-0.277000	0.09193	0.205000	0.17691	GGG		0.572	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			4	17	1	0	0.00024832	0.150653	0.000260145	4	17				
PRSS3P2	154754	broad.mit.edu	37	7	142479948	142479948	+	RNA	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr7:142479948G>A	ENST00000603901.1	+	0	80					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										ATCGTTGGGGGCTACACCTGT	0.552																																						ENST00000603901.1																			0																				109.0	76.0	86.0					7																	142479948		692	1591	2283			154754							g.chr7:142479948G>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142479948G>A								NR_001296.3						0	80	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.552	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		14	88	0	0	0	0.160694	0	14	88				
MTNR1B	4544	broad.mit.edu	37	11	92715442	92715442	+	Silent	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr11:92715442C>T	ENST00000257068.2	+	2	1059	c.1053C>T	c.(1051-1053)ccC>ccT	p.P351P		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	351					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)	p.P351P(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	CAGCTCCACCCATCATTGGTG	0.567																																						ENST00000257068.2																			1	Substitution - coding silent(1)	p.P351P(1)	lung(1)	central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33						c.(1051-1053)ccC>ccT		melatonin receptor 1B	Ramelteon(DB00980)						46.0	50.0	49.0					11																	92715442		2201	4298	6499	SO:0001819	synonymous_variant	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92715442C>T	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.1053C>T	11.37:g.92715442C>T							p.P351P	NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN			2	1059	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	351						Silent	SNP	ENST00000257068.2	37	c.1053C>T	CCDS8290.1																																																																																				0.567	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			9	53	0	0	0	0.047766	0	9	53				
GBA3	57733	broad.mit.edu	37	4	22820400	22820400	+	RNA	SNP	A	A	T	rs377577192		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr4:22820400A>T	ENST00000503442.1	+	0	434				GBA3_ENST00000508264.1_RNA|GBA3_ENST00000511446.2_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)	p.N422Y(1)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCTTCTGGATAACTTTGAGTG	0.423																																						ENST00000508166.1																			1	Substitution - Missense(1)	p.N422Y(1)	lung(1)	breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33								glucosidase, beta, acid 3 (gene/pseudogene)							85.0	77.0	79.0					4																	22820400		1869	4105	5974			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22820400A>T	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22820400A>T						GBA3_ENST00000511446.1_RNA|GBA3_ENST00000508264.1_RNA|GBA3_ENST00000503442.1_RNA		NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN			0	1366	+								Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	RNA	SNP	ENST00000503442.1	37																																																																																						0.423	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			3	19	0	0	0	0.115264	0	3	19				
THBS4	7060	broad.mit.edu	37	5	79336023	79336023	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr5:79336023C>T	ENST00000350881.2	+	2	402	c.212C>T	c.(211-213)tCa>tTa	p.S71L	THBS4_ENST00000511733.1_5'UTR	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	71	Laminin G-like.				behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		ACTAAAAGTTCAGCCACCATC	0.443																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(211-213)tCa>tTa		thrombospondin 4							65.0	63.0	64.0					5																	79336023		2203	4300	6503	SO:0001583	missense	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79336023C>T		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.212C>T	5.37:g.79336023C>T	ENSP00000339730:p.Ser71Leu					THBS4_ENST00000511733.1_5'UTR	p.S71L	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	2	402	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	71			TSP N-terminal.		B2R909|Q86TG2	Missense_Mutation	SNP	ENST00000350881.2	37	c.212C>T	CCDS4049.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.180057	0.57800	.	.	ENSG00000113296	ENST00000350881	T	0.02421	4.3	5.31	5.31	0.75309	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.428045	0.25189	N	0.032465	T	0.04092	0.0114	L	0.36672	1.1	0.80722	D	1	B	0.24258	0.1	B	0.18561	0.022	T	0.47724	-0.9095	10	0.56958	D	0.05	-4.73	17.7383	0.88400	0.0:1.0:0.0:0.0	.	71	P35443	TSP4_HUMAN	L	71	ENSP00000339730:S71L	ENSP00000339730:S71L	S	+	2	0	THBS4	79371779	0.930000	0.31532	0.917000	0.36280	0.988000	0.76386	4.559000	0.60796	2.472000	0.83506	0.446000	0.29264	TCA		0.443	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			11	31	0	0	0	0.069234	0	11	31				
CLK2	1196	broad.mit.edu	37	1	155234031	155234031	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr1:155234031G>A	ENST00000368361.4	-	11	1522	c.1207C>T	c.(1207-1209)Cgg>Tgg	p.R403W	SCAMP3_ENST00000355379.3_5'Flank|CLK2_ENST00000355560.4_Missense_Mutation_p.R401W|SCAMP3_ENST00000302631.3_5'Flank|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000536801.1_Missense_Mutation_p.R403W|CLK2_ENST00000361168.5_Missense_Mutation_p.R402W			P49760	CLK2_HUMAN	CDC-like kinase 2	403	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.R403R(1)		endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CGGATCATCCGGGAAGGGATA	0.443								Other conserved DNA damage response genes																														ENST00000368361.4																			1	Substitution - coding silent(1)	p.R403R(1)	lung(1)	endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22						c.(1207-1209)Cgg>Tgg	Other conserved DNA damage response genes	CDC-like kinase 2							109.0	103.0	105.0					1																	155234031		2203	4300	6503	SO:0001583	missense	1196					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:155234031G>A	L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.1207C>T	1.37:g.155234031G>A	ENSP00000357345:p.Arg403Trp					CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000536801.1_Missense_Mutation_p.R403W|CLK2_ENST00000361168.5_Missense_Mutation_p.R402W|CLK2_ENST00000355560.4_Missense_Mutation_p.R401W	p.R403W			P49760	CLK2_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		11	1522	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		403			Protein kinase.		B1AVS9|B5MBX6|Q96CQ0	Missense_Mutation	SNP	ENST00000368361.4	37	c.1207C>T		.	.	.	.	.	.	.	.	.	.	.	16.95	3.264501	0.59431	.	.	ENSG00000176444	ENST00000361168;ENST00000368361;ENST00000355560;ENST00000424156;ENST00000536801	T;T;T;T	0.20738	2.05;2.05;2.05;2.05	4.33	3.39	0.38822	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.07458	0.0188	L	0.31664	0.95	0.80722	D	1	P;P	0.45176	0.704;0.852	B;B	0.37422	0.218;0.249	T	0.08953	-1.0697	10	0.87932	D	0	.	12.3665	0.55232	0.0:0.0:0.8298:0.1702	.	403;402	P49760;P49760-3	CLK2_HUMAN;.	W	402;403;401;175;403	ENSP00000354856:R402W;ENSP00000357345:R403W;ENSP00000347759:R401W;ENSP00000441023:R403W	ENSP00000347759:R401W	R	-	1	2	CLK2	153500655	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.564000	0.60830	1.131000	0.42111	0.555000	0.69702	CGG		0.443	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	NM_003993		16	48	0	0	0	0.175082	0	16	48				
ALDOC	230	broad.mit.edu	37	17	26902241	26902241	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr17:26902241C>G	ENST00000226253.4	-	3	699	c.224G>C	c.(223-225)gGa>gCa	p.G75A	ALDOC_ENST00000395321.2_Missense_Mutation_p.G75A|ALDOC_ENST00000395319.3_Missense_Mutation_p.G75A|RP11-192H23.5_ENST00000585189.1_RNA	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	75					aging (GO:0007568)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|organ regeneration (GO:0031100)|protein heterotetramerization (GO:0051290)|protein homotetramerization (GO:0051289)|response to hypoxia (GO:0001666)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	cytoskeletal protein binding (GO:0008092)|fructose-bisphosphate aldolase activity (GO:0004332)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					AATGACGCCTCCAATGCACTT	0.527											OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000226253.4																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						c.(223-225)gGa>gCa		aldolase C, fructose-bisphosphate							90.0	88.0	89.0					17																	26902241		2203	4300	6503	SO:0001583	missense	230				fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity	g.chr17:26902241C>G	AF054987	CCDS11236.1	17q11.2	2013-09-20			ENSG00000109107	ENSG00000109107	4.1.2.13		418	protein-coding gene	gene with protein product		103870					Standard	XM_005257947		Approved		uc002hbp.3	P09972	OTTHUMG00000132605	ENST00000226253.4:c.224G>C	17.37:g.26902241C>G	ENSP00000226253:p.Gly75Ala		OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	790	ALDOC_ENST00000395321.2_Missense_Mutation_p.G75A|ALDOC_ENST00000395319.3_Missense_Mutation_p.G75A	p.G75A	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN			3	699	-	Lung NSC(42;0.00431)		75					B2R5R3|Q3SYL3|Q6FH94|Q6P0L5	Missense_Mutation	SNP	ENST00000226253.4	37	c.224G>C	CCDS11236.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.619133	0.46736	.	.	ENSG00000109107	ENST00000395319;ENST00000226253;ENST00000395321;ENST00000435638	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	6.17	6.17	0.99709	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.91640	0.7358	M	0.81497	2.545	0.80722	D	1	P;P	0.51791	0.868;0.948	P;P	0.56823	0.734;0.807	D	0.90633	0.4568	10	0.48119	T	0.1	.	19.6509	0.95805	0.0:1.0:0.0:0.0	.	75;75	A8MVZ9;P09972	.;ALDOC_HUMAN	A	75	ENSP00000378729:G75A;ENSP00000226253:G75A;ENSP00000378731:G75A;ENSP00000398976:G75A	ENSP00000226253:G75A	G	-	2	0	ALDOC	23926368	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GGA		0.527	ALDOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255839.4			9	24	0	0	0	0.047766	0	9	24				
HIBCH	26275	broad.mit.edu	37	2	191116990	191116990	+	Silent	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr2:191116990G>A	ENST00000359678.5	-	8	855	c.561C>T	c.(559-561)ctC>ctT	p.L187L	HIBCH_ENST00000410045.1_5'Flank|HIBCH_ENST00000392332.3_Silent_p.L187L	NM_014362.3|NM_198047.2	NP_055177.2|NP_932164.1	Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	187				LPRLQGKLGYFLALT -> FATTPRKTWLLPCIN (in Ref. 1; AAC52114). {ECO:0000305}.	branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	3-hydroxyisobutyryl-CoA hydrolase activity (GO:0003860)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			GTTTTCCTTGGAGTCGTGGCA	0.363																																						ENST00000392332.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13						c.(559-561)ctC>ctT		3-hydroxyisobutyryl-CoA hydrolase							81.0	73.0	76.0					2																	191116990		2203	4300	6503	SO:0001819	synonymous_variant	26275				branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding	g.chr2:191116990G>A	U66669	CCDS2304.1, CCDS46475.1	2q32.3	2010-04-29	2010-04-29		ENSG00000198130	ENSG00000198130	3.1.2.4		4908	protein-coding gene	gene with protein product		610690	"""3-hydroxyisobutyryl-Coenzyme A hydrolase"""			8824301	Standard	NM_014362		Approved		uc002uru.3	Q6NVY1	OTTHUMG00000132673	ENST00000359678.5:c.561C>T	2.37:g.191116990G>A						HIBCH_ENST00000359678.5_Silent_p.L187L	p.L187L			Q6NVY1	HIBCH_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)		8	700	-			187	LPRLQGKLGYFLALT -> FATTPRKTWLLPCIN (in Ref. 1; AAC52114).				D3DPI4|Q53GA8|Q53GF2|Q53RF7|Q53TC6|Q92931|Q9BS94	Silent	SNP	ENST00000359678.5	37	c.561C>T	CCDS2304.1																																																																																				0.363	HIBCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255933.1			21	33	0	0	0	0.204396	0	21	33				
LIN28B	389421	broad.mit.edu	37	6	105474273	105474273	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr6:105474273C>G	ENST00000345080.4	+	3	502	c.299C>G	c.(298-300)aCa>aGa	p.T100R		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	100	CSD.				miRNA catabolic process (GO:0010587)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA 3'-end processing (GO:0031123)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				ATACGGGTAACAGGACCTGGT	0.403																																						ENST00000345080.4																			0				large_intestine(1)|lung(10)|ovary(1)	12						c.(298-300)aCa>aGa		lin-28 homolog B (C. elegans)							129.0	145.0	140.0					6																	105474273		2203	4300	6503	SO:0001583	missense	389421				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr6:105474273C>G	AK131411	CCDS34504.1	6q21	2010-04-06			ENSG00000187772	ENSG00000187772			32207	protein-coding gene	gene with protein product		611044					Standard	NM_001004317		Approved	FLJ16517, CSDD2	uc003pqv.2	Q6ZN17	OTTHUMG00000015290	ENST00000345080.4:c.299C>G	6.37:g.105474273C>G	ENSP00000344401:p.Thr100Arg						p.T100R	NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN			3	502	+		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)	100			CSD.		A1L165|B2RPN6|Q5TCM4	Missense_Mutation	SNP	ENST00000345080.4	37	c.299C>G	CCDS34504.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020983	0.93462	.	.	ENSG00000187772	ENST00000345080	.	.	.	5.87	5.87	0.94306	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (1);Nucleic acid-binding, OB-fold (1);	0.044802	0.85682	D	0.000000	T	0.61123	0.2322	N	0.20881	0.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.99;0.996	T	0.66221	-0.5978	9	0.87932	D	0	-17.8362	20.2084	0.98285	0.0:1.0:0.0:0.0	.	77;100	A7E2T3;Q6ZN17	.;LN28B_HUMAN	R	100	.	ENSP00000344401:T100R	T	+	2	0	LIN28B	105580966	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.792000	0.85828	2.774000	0.95407	0.650000	0.86243	ACA		0.403	LIN28B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041646.2	NM_001004317		21	87	0	0	0	0.083992	0	21	87				
SORCS3	22986	broad.mit.edu	37	10	106937929	106937929	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr10:106937929G>T	ENST00000369701.3	+	14	2234	c.2007G>T	c.(2005-2007)atG>atT	p.M669I	SORCS3_ENST00000369699.4_Intron	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	669					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CCCACATCATGACGTGAGTAC	0.493																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(2005-2007)atG>atT		sortilin-related VPS10 domain containing receptor 3							172.0	144.0	154.0					10																	106937929		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106937929G>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2007G>T	10.37:g.106937929G>T	ENSP00000358715:p.Met669Ile					SORCS3_ENST00000369699.4_Intron	p.M669I	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	14	2234	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	669					Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.2007G>T	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.063479	0.55432	.	.	ENSG00000156395	ENST00000369701;ENST00000393176	T;T	0.28069	1.63;1.63	5.65	5.65	0.86999	VPS10 (1);	0.088949	0.85682	D	0.000000	T	0.29652	0.0740	L	0.37561	1.115	0.58432	D	0.999999	P	0.34780	0.468	B	0.37091	0.241	T	0.02464	-1.1155	9	.	.	.	.	18.4894	0.90842	0.0:0.0:1.0:0.0	.	669	Q9UPU3	SORC3_HUMAN	I	669;114	ENSP00000358715:M669I;ENSP00000376876:M114I	.	M	+	3	0	SORCS3	106927919	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.170000	0.77587	2.645000	0.89757	0.585000	0.79938	ATG		0.493	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		4	34	1	0	0.00024832	0.150653	0.000260145	4	34				
CSAD	51380	broad.mit.edu	37	12	53554091	53554091	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr12:53554091G>A	ENST00000444623.1	-	14	1246	c.979C>T	c.(979-981)Cgc>Tgc	p.R327C	RP11-1136G11.8_ENST00000550908.1_lincRNA|CSAD_ENST00000453446.2_Missense_Mutation_p.R327C|CSAD_ENST00000267085.4_Missense_Mutation_p.R354C|CSAD_ENST00000379843.3_Missense_Mutation_p.R180C|CSAD_ENST00000379846.1_Missense_Mutation_p.R180C	NM_001244705.1	NP_001231634.1	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	327					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)		pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)	CCATGGCAGCGCTTGAGCAGG	0.602																																					Ovarian(109;252 1546 16882 28524 44645)	ENST00000267085.4																			0				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14						c.(1060-1062)Cgc>Tgc		cysteine sulfinic acid decarboxylase	L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						69.0	62.0	64.0					12																	53554091		2203	4300	6503	SO:0001583	missense	51380				carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity	g.chr12:53554091G>A	AB044561	CCDS8848.2, CCDS58235.1	12q13.11-q14.3	2008-08-04			ENSG00000139631	ENSG00000139631			18966	protein-coding gene	gene with protein product	"""P-selectin cytoplasmic tail-associated protein"""					15489334	Standard	NM_015989		Approved	PCAP, CSD	uc001sbz.3	Q9Y600	OTTHUMG00000048076	ENST00000444623.1:c.979C>T	12.37:g.53554091G>A	ENSP00000415485:p.Arg327Cys					RP11-1136G11.8_ENST00000550908.1_lincRNA|CSAD_ENST00000379843.3_Missense_Mutation_p.R180C|CSAD_ENST00000453446.2_Missense_Mutation_p.R327C|CSAD_ENST00000444623.1_Missense_Mutation_p.R327C|CSAD_ENST00000379846.1_Missense_Mutation_p.R180C	p.R354C	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN			14	1293	-			327					A8K0U4|Q4QQH9|Q9UNJ5|Q9Y601	Missense_Mutation	SNP	ENST00000444623.1	37	c.1060C>T	CCDS58235.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.012905|4.012905	0.75161|0.75161	.|.	.|.	ENSG00000139631|ENSG00000139631	ENST00000379850|ENST00000308926;ENST00000379843;ENST00000267085;ENST00000379846;ENST00000444623;ENST00000398047;ENST00000453446	.|T;T;T;T;T	.|0.40476	.|1.03;1.03;1.03;1.03;1.03	4.67|4.67	3.75|3.75	0.43078|0.43078	.|Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	.|0.613677	.|0.17145	.|N	.|0.185303	T|T	0.61837|0.61837	0.2379|0.2379	M|M	0.77486|0.77486	2.375|2.375	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;1.0	.|D;D;P	.|0.66084	.|0.932;0.941;0.849	T|T	0.64279|0.64279	-0.6445|-0.6445	5|10	.|0.56958	.|D	.|0.05	-4.899|-4.899	11.7221|11.7221	0.51688|0.51688	0.0:0.0:0.6815:0.3185|0.0:0.0:0.6815:0.3185	.|.	.|354;327;180	.|Q9Y600-3;Q9Y600;Q9Y600-2	.|.;CSAD_HUMAN;.	V|C	352|416;180;354;180;327;288;327	.|ENSP00000369172:R180C;ENSP00000267085:R354C;ENSP00000369175:R180C;ENSP00000415485:R327C;ENSP00000410648:R327C	.|ENSP00000267085:R354C	A|R	-|-	2|1	0|0	CSAD|CSAD	51840358|51840358	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	2.555000|2.555000	0.45854|0.45854	1.288000|1.288000	0.44600|0.44600	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.602	CSAD-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343697.1	NM_015989		3	37	0	0	0	0.115264	0	3	37				
ATP4A	495	broad.mit.edu	37	19	36048663	36048663	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr19:36048663G>T	ENST00000262623.3	-	11	1615	c.1587C>A	c.(1585-1587)tgC>tgA	p.C529*		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	529					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GGATGGAGCTGCAGCGCTCCA	0.701																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(1585-1587)tgC>tgA		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						13.0	14.0	14.0					19																	36048663		2190	4285	6475	SO:0001587	stop_gained	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36048663G>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.1587C>A	19.37:g.36048663G>T	ENSP00000262623:p.Cys529*						p.C529*	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		11	1615	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		529					O00738	Nonsense_Mutation	SNP	ENST00000262623.3	37	c.1587C>A	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	G	38	6.855501	0.97889	.	.	ENSG00000105675	ENST00000262623	.	.	.	3.8	1.42	0.22433	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.1251	0.25467	0.2093:0.0:0.7907:0.0	.	.	.	.	X	529	.	ENSP00000262623:C529X	C	-	3	2	ATP4A	40740503	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.787000	0.26858	0.682000	0.31407	0.484000	0.47621	TGC		0.701	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		4	11	1	0	1.024e-07	0.184627	1.17029e-07	4	11				
HTR3B	9177	broad.mit.edu	37	11	113803665	113803665	+	Silent	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr11:113803665C>T	ENST00000260191.2	+	6	803	c.546C>T	c.(544-546)gaC>gaT	p.D182D	HTR3B_ENST00000537778.1_Silent_p.D171D	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	182					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ion channel activity (GO:0005216)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Ergoloid mesylate(DB01049)	CAGTGGAAGACGTAGACCTGG	0.463																																						ENST00000260191.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20						c.(544-546)gaC>gaT		5-hydroxytryptamine (serotonin) receptor 3B, ionotropic							132.0	118.0	123.0					11																	113803665		2201	4296	6497	SO:0001819	synonymous_variant	9177				synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113803665C>T	AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5298	protein-coding gene	gene with protein product		604654	"""5-hydroxytryptamine (serotonin) receptor 3B"""			9950429, 10521471	Standard	NM_006028		Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.546C>T	11.37:g.113803665C>T						HTR3B_ENST00000537778.1_Silent_p.D171D	p.D182D	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	6	803	+		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	182					B0YJ23|Q0VJC3	Silent	SNP	ENST00000260191.2	37	c.546C>T	CCDS8364.1	.	.	.	.	.	.	.	.	.	.	C	6.810	0.518553	0.13005	.	.	ENSG00000149305	ENST00000543092	.	.	.	6.17	-0.196	0.13232	.	.	.	.	.	T	0.58850	0.2151	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53606	-0.8415	4	.	.	.	-19.6554	11.6489	0.51277	0.0:0.511:0.0:0.489	.	.	.	.	M	111	.	.	T	+	2	0	HTR3B	113308875	0.307000	0.24500	0.699000	0.30290	0.926000	0.56050	-0.142000	0.10311	-0.235000	0.09767	-0.982000	0.02568	ACG		0.463	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398842.1	NM_006028		3	51	0	0	0	0.115264	0	3	51				
SLITRK2	84631	broad.mit.edu	37	X	144904556	144904556	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chrX:144904556A>T	ENST00000370490.1	+	1	4868	c.613A>T	c.(613-615)Att>Ttt	p.I205F	SLITRK2_ENST00000434188.2_Missense_Mutation_p.I205F|SLITRK2_ENST00000447897.2_Missense_Mutation_p.I205F|SLITRK2_ENST00000428560.2_Missense_Mutation_p.I205F|SLITRK2_ENST00000413937.2_Missense_Mutation_p.I205F			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	205					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTGAACATATTGGAGGGAT	0.473																																						ENST00000370490.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86						c.(613-615)Att>Ttt		SLIT and NTRK-like family, member 2							139.0	125.0	130.0					X																	144904556		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144904556A>T	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.613A>T	X.37:g.144904556A>T	ENSP00000359521:p.Ile205Phe					SLITRK2_ENST00000434188.2_Missense_Mutation_p.I205F|SLITRK2_ENST00000413937.2_Missense_Mutation_p.I205F|SLITRK2_ENST00000447897.2_Missense_Mutation_p.I205F|SLITRK2_ENST00000428560.2_Missense_Mutation_p.I205F	p.I205F			Q9H156	SLIK2_HUMAN			1	4868	+	Acute lymphoblastic leukemia(192;6.56e-05)		205					A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.613A>T	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	A	17.73	3.462698	0.63513	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.48021	0.1477	L	0.41236	1.265	0.58432	D	0.999998	D	0.55605	0.972	P	0.50231	0.635	T	0.51301	-0.8723	10	0.72032	D	0.01	-11.1403	11.659	0.51334	1.0:0.0:0.0:0.0	.	205	Q9H156	SLIK2_HUMAN	F	205	ENSP00000334374:I205F;ENSP00000411681:I205F;ENSP00000359521:I205F;ENSP00000397015:I205F;ENSP00000407347:I205F;ENSP00000412010:I205F	ENSP00000334374:I205F	I	+	1	0	SLITRK2	144712248	1.000000	0.71417	0.134000	0.22075	0.979000	0.70002	7.306000	0.78905	1.653000	0.50694	0.486000	0.48141	ATT		0.473	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		19	128	0	0	0	0.189662	0	19	128				
BMS1P20	96610	broad.mit.edu	37	22	22661474	22661474	+	RNA	SNP	C	C	T	rs537933406	byFrequency	TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr22:22661474C>T	ENST00000426066.1	+	0	364					NR_027293.1				BMS1 pseudogene 20																		CCCTCAGATGCGTCTGAAGAA	0.493													.|||	30	0.00599042	0.0136	0.0029	5008	,	,		25183	0.0		0.002	False		,,,				2504	0.0082					ENST00000426066.1																			0																																																			96610							g.chr22:22661474C>T			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661474C>T								NR_027293.1						0	364	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.493	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	42	0	0	0	0.217242	0	4	42				
TENM3	55714	broad.mit.edu	37	4	183676102	183676102	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr4:183676102G>T	ENST00000511685.1	+	22	4705	c.4582G>T	c.(4582-4584)Ggt>Tgt	p.G1528C	TENM3_ENST00000406950.2_Missense_Mutation_p.G1528C|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1528					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TGACATCAATGGTACTCACCA	0.383																																						ENST00000511685.1																			0											c.(4582-4584)Ggt>Tgt		teneurin transmembrane protein 3							74.0	74.0	74.0					4																	183676102		1906	4134	6040	SO:0001583	missense	55714							g.chr4:183676102G>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.4582G>T	4.37:g.183676102G>T	ENSP00000424226:p.Gly1528Cys					TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.G1528C	p.G1528C							22	4705	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.4582G>T	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146795	0.77888	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.16457	2.34;2.34	5.4	5.4	0.78164	.	.	.	.	.	T	0.51415	0.1673	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58662	-0.7597	9	0.87932	D	0	.	19.3711	0.94488	0.0:0.0:1.0:0.0	.	1528	Q9P273	TEN3_HUMAN	C	1528	ENSP00000424226:G1528C;ENSP00000385276:G1528C	ENSP00000385276:G1528C	G	+	1	0	ODZ3	183913096	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.657000	0.98554	2.814000	0.96858	0.563000	0.77884	GGT		0.383	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			6	27	1	0	0.217242	0.217242	0.219739	6	27				
ZNF616	90317	broad.mit.edu	37	19	52619658	52619658	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr19:52619658A>T	ENST00000600228.1	-	4	1020	c.759T>A	c.(757-759)aaT>aaA	p.N253K	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	253					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		CAAAATATGAATTTTTTCTGA	0.398																																						ENST00000600228.1																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(757-759)aaT>aaA		zinc finger protein 616							96.0	94.0	95.0					19																	52619658		2203	4300	6503	SO:0001583	missense	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52619658A>T	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.759T>A	19.37:g.52619658A>T	ENSP00000471000:p.Asn253Lys					ZNF616_ENST00000330123.5_3'UTR	p.N253K	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	1020	-			253					B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	c.759T>A	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	a	0.006	-2.041610	0.00402	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.08	-2.15	0.07102	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07052	0.0179	N	0.01410	-0.885	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.11641	-1.0579	8	0.08381	T	0.77	.	0.9246	0.01322	0.2025:0.1651:0.1456:0.4868	.	253	Q08AN1	ZN616_HUMAN	K	253	.	ENSP00000328722:N253K	N	-	3	2	ZNF616	57311470	0.000000	0.05858	0.000000	0.03702	0.691000	0.40173	-5.576000	0.00112	-2.605000	0.00448	-2.595000	0.00163	AAT		0.398	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		8	72	0	0	0	0.058154	0	8	72				
NPHS2	7827	broad.mit.edu	37	1	179544754	179544754	+	Silent	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr1:179544754C>T	ENST00000367615.4	-	1	314	c.246G>A	c.(244-246)gcG>gcA	p.A82A	RNU5F-2P_ENST00000516066.1_RNA|NPHS2_ENST00000367616.4_Silent_p.A82A	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	82					actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249)	cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						TCTCCAACAGCGCCACCACCT	0.672																																						ENST00000367615.4																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						c.(244-246)gcG>gcA		nephrosis 2, idiopathic, steroid-resistant (podocin)							23.0	23.0	23.0					1																	179544754		2187	4274	6461	SO:0001819	synonymous_variant	7827				excretion	integral to plasma membrane	protein binding	g.chr1:179544754C>T	AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218			13394	protein-coding gene	gene with protein product		604766				8589695, 10742096	Standard	XM_005245483		Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.246G>A	1.37:g.179544754C>T						NPHS2_ENST00000367616.4_Silent_p.A82A	p.A82A	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN			1	314	-			82					B1AM32|B1AM33|Q8N6Q5	Silent	SNP	ENST00000367615.4	37	c.246G>A	CCDS1331.1																																																																																				0.672	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085283.1			7	15	0	0	0	0.029380	0	7	15				
ZNF536	9745	broad.mit.edu	37	19	30935483	30935483	+	Silent	SNP	C	C	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr19:30935483C>A	ENST00000355537.3	+	2	1161	c.1014C>A	c.(1012-1014)ggC>ggA	p.G338G		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	338					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACGGCGGTGGCGAGCAGTCGG	0.652																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(1012-1014)ggC>ggA		zinc finger protein 536							81.0	93.0	89.0					19																	30935483		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935483C>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1014C>A	19.37:g.30935483C>A							p.G338G	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	1161	+	Esophageal squamous(110;0.0834)		338					A2RU18	Silent	SNP	ENST00000355537.3	37	c.1014C>A	CCDS32984.1																																																																																				0.652	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		8	77	1	0	5.18039e-06	0.038147	5.62808e-06	8	77				
CASP4	837	broad.mit.edu	37	11	104820329	104820329	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr11:104820329C>T	ENST00000444739.2	-	5	1632	c.722G>A	c.(721-723)cGc>cAc	p.R241H	CASP4_ENST00000393150.3_Missense_Mutation_p.R185H|CASP4_ENST00000531333.1_5'Flank	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	241					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|IPAF inflammasome complex (GO:0072557)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activity (GO:0004197)	p.R241H(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		GAGGCAGTTGCGGTTGTTGAA	0.473																																						ENST00000444739.2																			1	Substitution - Missense(1)	p.R241H(1)	central_nervous_system(1)	central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23						c.(721-723)cGc>cAc		caspase 4, apoptosis-related cysteine peptidase							271.0	222.0	238.0					11																	104820329		2202	4299	6501	SO:0001583	missense	837				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104820329C>T	U25804	CCDS8327.1, CCDS41704.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000196954	ENSG00000196954		"""Caspases"""	1505	protein-coding gene	gene with protein product		602664	"""caspase 4, apoptosis-related cysteine protease"""			7797510, 9250871	Standard	NM_001225		Approved	ICE(rel)II, ICH-2, TX	uc001pid.1	P49662	OTTHUMG00000166078	ENST00000444739.2:c.722G>A	11.37:g.104820329C>T	ENSP00000388566:p.Arg241His					CASP4_ENST00000393150.3_Missense_Mutation_p.R185H	p.R241H	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)	5	1632	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	241					A2NHL8|A2NHM0	Missense_Mutation	SNP	ENST00000444739.2	37	c.722G>A	CCDS8327.1	.	.	.	.	.	.	.	.	.	.	C	5.980	0.364831	0.11296	.	.	ENSG00000196954	ENST00000444739;ENST00000393150;ENST00000355546	T;T	0.20738	2.05;2.05	4.57	3.61	0.41365	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.546780	0.19487	N	0.113081	T	0.21801	0.0525	M	0.66506	2.035	0.09310	N	1	B;B	0.24533	0.07;0.105	B;B	0.24269	0.052;0.051	T	0.09509	-1.0671	10	0.48119	T	0.1	.	7.9255	0.29872	0.178:0.6492:0.1728:0.0	.	241;241	B4E2D2;P49662	.;CASP4_HUMAN	H	241;185;194	ENSP00000388566:R241H;ENSP00000376857:R185H	ENSP00000347741:R194H	R	-	2	0	CASP4	104325539	0.000000	0.05858	0.634000	0.29324	0.120000	0.20174	-0.320000	0.08028	2.358000	0.79984	0.650000	0.86243	CGC		0.473	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387751.1	NM_001225		14	77	0	0	0	0.119110	0	14	77				
SIRPB1	10326	broad.mit.edu	37	20	1585397	1585397	+	Intron	SNP	T	T	C	rs148754551	byFrequency	TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr20:1585397T>C	ENST00000381605.4	-	1	141				SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381596.1_5'Flank|SIRPB1_ENST00000279477.7_Missense_Mutation_p.T248A	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.T248A(5)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTCGGATGGTCTCAGACAAG	0.627													t|||	2569	0.512979	0.6967	0.33	5008	,	,		3683	0.4435		0.4473	False		,,,				2504	0.5337					ENST00000279477.7																			5	Substitution - Missense(5)	p.T248A(5)	kidney(3)|prostate(2)	central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(742-744)Acc>Gcc		signal-regulatory protein beta 1							20.0	30.0	27.0					20																	1585397		375	895	1270	SO:0001627	intron_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1585397T>C	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+15117A>G	20.37:g.1585397T>C						RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A	p.T248A	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN			3	806	-			248					A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.742A>G	CCDS13019.1	757	0.3466117216117216	239	0.48577235772357724	97	0.26795580110497236	219	0.38286713286713286	202	0.26649076517150394	.	0.464	-0.887787	0.02511	.	.	ENSG00000101307	ENST00000279477	T	0.11930	2.73	2.24	-0.597	0.11653	.	.	.	.	.	T	0.00012	0.0000	N	0.20530	0.585	0.47778	P	4.809999999999537E-4	B	0.02656	0.0	B	0.06405	0.002	T	0.45483	-0.9258	8	0.13470	T	0.59	.	3.263	0.06855	0.2055:0.1485:0.0:0.646	.	248	Q5TFQ8	SIRBL_HUMAN	A	248	ENSP00000279477:T248A	ENSP00000279477:T248A	T	-	1	0	SIRPB1	1533397	0.001000	0.12720	0.631000	0.29282	0.161000	0.22273	-0.285000	0.08410	-0.814000	0.04352	-1.120000	0.02017	ACC		0.627	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		3	39	0	0	0	0.115264	0	3	39				
POU3F2	5454	broad.mit.edu	37	6	99283616	99283616	+	Silent	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr6:99283616G>A	ENST00000328345.5	+	1	1037	c.867G>A	c.(865-867)gcG>gcA	p.A289A		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	289	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		TTACCCAAGCGGACGTGGGGC	0.607																																						ENST00000328345.5																			0				endometrium(2)|large_intestine(3)|lung(5)	10						c.(865-867)gcG>gcA		POU class 3 homeobox 2							180.0	190.0	187.0					6																	99283616		2203	4300	6503	SO:0001819	synonymous_variant	5454				positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:99283616G>A	Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"""Homeoboxes / POU class"""	9215	protein-coding gene	gene with protein product		600494	"""POU domain class 3, transcription factor 2"""	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.867G>A	6.37:g.99283616G>A							p.A289A	NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0355)	1	1037	+		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)	289			POU-specific.		Q14960|Q86V54|Q9UJL0	Silent	SNP	ENST00000328345.5	37	c.867G>A	CCDS5040.1																																																																																				0.607	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041586.2			39	153	0	0	0	0.117977	0	39	153				
PCDH17	27253	broad.mit.edu	37	13	58207860	58207860	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr13:58207860G>A	ENST00000377918.3	+	1	1206	c.1180G>A	c.(1180-1182)Gga>Aga	p.G394R		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	394	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.|Gly-rich.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GGTCCTAGGCGGAGGAGGGAc	0.692																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(1180-1182)Gga>Aga		protocadherin 17							7.0	8.0	8.0					13																	58207860		1918	3950	5868	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58207860G>A	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1180G>A	13.37:g.58207860G>A	ENSP00000367151:p.Gly394Arg						p.G394R	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	1206	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	394			Cadherin 4.|Gly-rich.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.1180G>A	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.549892	0.27652	.	.	ENSG00000118946	ENST00000377918	T	0.57107	0.42	5.46	5.46	0.80206	Cadherin (4);Cadherin-like (1);	0.098040	0.45126	N	0.000391	T	0.51312	0.1667	L	0.51914	1.62	0.35123	D	0.767252	P;P	0.46020	0.844;0.871	B;P	0.45428	0.348;0.48	T	0.62487	-0.6844	9	.	.	.	.	12.8452	0.57825	0.0776:0.0:0.9224:0.0	.	394;394	O14917-2;O14917	.;PCD17_HUMAN	R	394	ENSP00000367151:G394R	.	G	+	1	0	PCDH17	57105861	1.000000	0.71417	1.000000	0.80357	0.485000	0.33311	5.129000	0.64739	2.588000	0.87417	0.650000	0.86243	GGA		0.692	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		4	6	0	0	0	0.150653	0	4	6				
DPP10	57628	broad.mit.edu	37	2	116535403	116535403	+	Missense_Mutation	SNP	C	C	A	rs370987489		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr2:116535403C>A	ENST00000410059.1	+	15	1834	c.1354C>A	c.(1354-1356)Ctg>Atg	p.L452M	DPP10_ENST00000310323.8_Missense_Mutation_p.L445M|DPP10_ENST00000393147.2_Missense_Mutation_p.L456M|DPP10_ENST00000409163.1_Missense_Mutation_p.L402M	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	452						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGGAAGGCAGCTGTACAGGTA	0.403																																						ENST00000410059.1																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(1354-1356)Ctg>Atg		dipeptidyl-peptidase 10 (non-functional)							152.0	135.0	141.0					2																	116535403		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116535403C>A	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1354C>A	2.37:g.116535403C>A	ENSP00000386565:p.Leu452Met					DPP10_ENST00000393147.2_Missense_Mutation_p.L456M|DPP10_ENST00000310323.8_Missense_Mutation_p.L445M|DPP10_ENST00000409163.1_Missense_Mutation_p.L402M	p.L452M	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			15	1834	+			452					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.1354C>A	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.594966	0.66219	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.34	3.54	0.40534	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.64402	D	0.000002	T	0.68155	0.2970	M	0.91459	3.21	0.52099	D	0.99994	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;D;D	0.97110	0.992;1.0;0.995;0.995	T	0.71407	-0.4602	10	0.87932	D	0	-31.3092	9.5784	0.39472	0.0:0.8275:0.0:0.1725	.	445;456;448;452	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	M	452;402;456;445;402	ENSP00000386565:L452M;ENSP00000387038:L402M;ENSP00000376855:L456M;ENSP00000309066:L445M	ENSP00000309066:L445M	L	+	1	2	DPP10	116251873	0.994000	0.37717	1.000000	0.80357	0.988000	0.76386	1.345000	0.33953	0.629000	0.30376	0.579000	0.79373	CTG		0.403	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		17	41	1	0	1.00905e-13	0.204396	1.19995e-13	17	41				
C3orf30	152405	broad.mit.edu	37	3	118865966	118865966	+	Silent	SNP	G	G	C			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr3:118865966G>C	ENST00000295622.1	+	1	970	c.930G>C	c.(928-930)gtG>gtC	p.V310V	IGSF11_ENST00000425327.2_5'Flank|RP11-484M3.5_ENST00000490594.1_5'Flank|IGSF11_ENST00000354673.2_5'Flank|IGSF11_ENST00000441144.2_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	310										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		ACCACCAAGTGTACGGCCAAG	0.493																																						ENST00000295622.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34						c.(928-930)gtG>gtC		chromosome 3 open reading frame 30							85.0	74.0	78.0					3																	118865966		2203	4300	6503	SO:0001819	synonymous_variant	152405							g.chr3:118865966G>C	AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.930G>C	3.37:g.118865966G>C							p.V310V	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	1	970	+			310					A1L4B7	Silent	SNP	ENST00000295622.1	37	c.930G>C	CCDS2984.1	.	.	.	.	.	.	.	.	.	.	G	3.420	-0.118424	0.06838	.	.	ENSG00000163424	ENST00000460150;ENST00000473121;ENST00000492792	T;T;T	0.38401	1.85;1.14;1.38	3.02	-6.04	0.02178	.	6.293900	0.00166	N	0.000000	T	0.22282	0.0537	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.09443	-1.0674	7	0.28530	T	0.3	7.4236	5.2589	0.15561	0.5842:0.0:0.1517:0.2641	.	.	.	.	L	274;103;45	ENSP00000418207:V274L;ENSP00000419675:V103L;ENSP00000419083:V45L	ENSP00000418207:V274L	V	+	1	0	C3orf30	120348656	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-0.831000	0.04405	-1.927000	0.01060	0.467000	0.42956	GTA		0.493	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1	NM_152539		7	33	0	0	0	0.038147	0	7	33				
SNRNP200	23020	broad.mit.edu	37	2	96942823	96942823	+	Missense_Mutation	SNP	G	G	A	rs150442718		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr2:96942823G>A	ENST00000323853.5	-	42	6165	c.6088C>T	c.(6088-6090)Cgc>Tgc	p.R2030C	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	2030	SEC63 2.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GCTCACCTGCGGATGCTGTCC	0.552																																						ENST00000323853.5																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						c.(6088-6090)Cgc>Tgc		small nuclear ribonucleoprotein 200kDa (U5)		G	CYS/ARG	0,4406		0,0,2203	103.0	97.0	99.0		6088	4.9	1.0	2	dbSNP_134	99	1,8599	1.2+/-3.3	0,1,4299	no	missense	SNRNP200	NM_014014.4	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	2030/2137	96942823	1,13005	2203	4300	6503	SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96942823G>A	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.6088C>T	2.37:g.96942823G>A	ENSP00000317123:p.Arg2030Cys					SNRNP200_ENST00000349783.5_Intron	p.R2030C	NM_014014.4	NP_054733.2	O75643	U520_HUMAN			42	6165	-			2030			SEC63 2.		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.6088C>T	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.848690	0.71603	0.0	1.16E-4	ENSG00000144028	ENST00000323853;ENST00000536601;ENST00000543553	T	0.55052	0.54	4.89	4.89	0.63831	Sec63 domain (3);	0.053999	0.64402	D	0.000002	T	0.44201	0.1282	L	0.41710	1.295	0.80722	D	1	B	0.14012	0.009	B	0.10450	0.005	T	0.38023	-0.9680	10	0.54805	T	0.06	.	12.4325	0.55581	0.0:0.0:0.8319:0.168	.	2030	O75643	U520_HUMAN	C	2030;489;613	ENSP00000317123:R2030C	ENSP00000317123:R2030C	R	-	1	0	SNRNP200	96306550	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.357000	0.66058	2.704000	0.92352	0.563000	0.77884	CGC		0.552	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		9	71	0	0	0	0.058154	0	9	71				
ITGB2	3689	broad.mit.edu	37	21	46320235	46320235	+	Splice_Site	SNP	G	G	A	rs150327269		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr21:46320235G>A	ENST00000397850.2	-	8	1349	c.897C>T	c.(895-897)ttC>ttT	p.F299F	ITGB2_ENST00000397854.3_Splice_Site_p.F242F|ITGB2_ENST00000302347.5_Splice_Site_p.F299F|ITGB2_ENST00000397852.1_Splice_Site_p.F299F|ITGB2_ENST00000397857.1_Splice_Site_p.F299F|ITGB2_ENST00000355153.4_Splice_Site_p.F299F			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	299	VWFA.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GGGGACTTACGAATTCGTTGC	0.637																																						ENST00000397850.2																			0				breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35						c.e8+1		integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	Simvastatin(DB00641)	G	,	1,4405	2.1+/-5.4	0,1,2202	120.0	94.0	103.0		897,897	-7.0	0.4	21	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	ITGB2	NM_000211.3,NM_001127491.1	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	299/770,299/770	46320235	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46320235G>A	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.897+1C>T	21.37:g.46320235G>A						ITGB2_ENST00000302347.5_Splice_Site_p.F299_splice|ITGB2_ENST00000355153.4_Splice_Site_p.F299_splice|ITGB2_ENST00000397857.1_Splice_Site_p.F299_splice|ITGB2_ENST00000397852.1_Splice_Site_p.F299_splice|ITGB2_ENST00000397854.3_Splice_Site_p.F242_splice	p.F299_splice			P05107	ITB2_HUMAN		Colorectal(79;0.0669)	8	1349	-			299			VWFA.		B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Splice_Site	SNP	ENST00000397850.2	37	c.897_splice	CCDS13716.1																																																																																				0.637	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211	Silent	7	29	0	0	0	0.038147	0	7	29				
CES1	1066	broad.mit.edu	37	16	55860122	55860122	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr16:55860122C>T	ENST00000361503.4	-	3	473	c.343G>A	c.(343-345)Gac>Aac	p.D115N	CES1_ENST00000360526.3_Missense_Mutation_p.D116N|CES1_ENST00000422046.2_Missense_Mutation_p.D115N|CES1_ENST00000566555.1_5'UTR			P23141	EST1_HUMAN	carboxylesterase 1	115				D -> H (in Ref. 19; AAA83932). {ECO:0000305}.	epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	TAAAGACAGTCTTCAGAAAGC	0.512																																					NSCLC(162;1801 2756 42904 52896)	ENST00000422046.2																			0											c.(343-345)Gac>Aac		carboxylesterase 1	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)						152.0	178.0	169.0					16																	55860122		2198	4300	6498	SO:0001583	missense	1066				response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55860122C>T	BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"""Carboxylesterases"""	1863	protein-coding gene	gene with protein product	"""human monocyte/macrophage serine esterase 1"""	114835	"""carboxylesterase 1 (monocyte/macrophage serine esterase 1)"""			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.343G>A	16.37:g.55860122C>T	ENSP00000355193:p.Asp115Asn					CES1_ENST00000361503.4_Missense_Mutation_p.D115N|CES1_ENST00000566555.1_5'UTR|CES1_ENST00000360526.3_Missense_Mutation_p.D116N	p.D115N			P23141	EST1_HUMAN		all cancers(182;0.13)|Epithelial(162;0.137)	3	624	-			115	D -> H (in Ref. 19; AAA83932).				A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	ENST00000361503.4	37	c.343G>A	CCDS45488.1	.	.	.	.	.	.	.	.	.	.	.	19.80	3.894082	0.72639	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046	D;D;D	0.86164	-2.08;-2.08;-2.08	4.7	4.7	0.59300	Carboxylesterase type B, conserved site (1);Carboxylesterase, type B (1);	0.000000	0.52532	D	0.000074	D	0.94473	0.8221	M	0.90870	3.155	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.72338	0.977;0.946;0.961	D	0.95653	0.8708	10	0.87932	D	0	.	15.1814	0.72962	0.0:1.0:0.0:0.0	.	115;115;116	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	N	116;115;115	ENSP00000353720:D116N;ENSP00000355193:D115N;ENSP00000390492:D115N	ENSP00000353720:D116N	D	-	1	0	CES1	54417623	1.000000	0.71417	0.999000	0.59377	0.396000	0.30629	6.803000	0.75180	2.196000	0.70406	0.400000	0.26472	GAC		0.512	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266		27	103	0	0	0	0.091800	0	27	103				
LAMP5	24141	broad.mit.edu	37	20	9510385	9510385	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr20:9510385C>T	ENST00000246070.2	+	6	1253	c.761C>T	c.(760-762)gCg>gTg	p.A254V	LAMP5_ENST00000427562.2_Missense_Mutation_p.A210V	NM_012261.3	NP_036393.1	Q9UJQ1	LAMP5_HUMAN	lysosomal-associated membrane protein family, member 5	254						cytoplasmic vesicle membrane (GO:0030659)|dendrite membrane (GO:0032590)|early endosome membrane (GO:0031901)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|endosome membrane (GO:0010008)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)		p.A254V(1)									GTAACACTCGCGATTTACCAC	0.547																																						ENST00000246070.2																			1	Substitution - Missense(1)	p.A254V(1)	upper_aerodigestive_tract(1)								c.(760-762)gCg>gTg		lysosomal-associated membrane protein family, member 5							133.0	106.0	115.0					20																	9510385		2203	4300	6503	SO:0001583	missense	24141					integral to membrane		g.chr20:9510385C>T	AL121740	CCDS13106.1, CCDS56177.1	20p12	2013-03-14	2011-11-25	2011-11-25	ENSG00000125869	ENSG00000125869			16097	protein-coding gene	gene with protein product	"""brain and dendritic cell associated LAMP"""	614641	"""chromosome 20 open reading frame 103"""	C20orf103		11780052, 21642595	Standard	NM_012261		Approved	dJ1119D9.3, BAD-LAMP, UNC-43	uc002wni.2	Q9UJQ1	OTTHUMG00000031851	ENST00000246070.2:c.761C>T	20.37:g.9510385C>T	ENSP00000246070:p.Ala254Val					LAMP5_ENST00000427562.2_Missense_Mutation_p.A210V	p.A254V	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN			6	1253	+			254					B4DHZ7|B7Z9Z9	Missense_Mutation	SNP	ENST00000246070.2	37	c.761C>T	CCDS13106.1	.	.	.	.	.	.	.	.	.	.	C	7.959	0.746511	0.15710	.	.	ENSG00000125869	ENST00000246070;ENST00000427562	T;T	0.28069	1.63;1.63	6.16	-0.0513	0.13827	.	0.573102	0.19435	N	0.114333	T	0.14184	0.0343	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.002;0.003	T	0.26395	-1.0104	9	.	.	.	-0.8618	7.427	0.27105	0.0:0.4545:0.136:0.4095	.	210;254	Q9UJQ1-2;Q9UJQ1	.;CT103_HUMAN	V	254;210	ENSP00000246070:A254V;ENSP00000406360:A210V	.	A	+	2	0	C20orf103	9458385	0.145000	0.22656	0.000000	0.03702	0.296000	0.27459	2.345000	0.44018	-0.291000	0.09012	0.650000	0.86243	GCG		0.547	LAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077946.2	NM_012261		7	39	0	0	0	0.038147	0	7	39				
OSBPL8	114882	broad.mit.edu	37	12	76763056	76763056	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr12:76763056C>T	ENST00000261183.3	-	21	2745	c.2266G>A	c.(2266-2268)Gat>Aat	p.D756N	OSBPL8_ENST00000393249.2_Missense_Mutation_p.D714N|OSBPL8_ENST00000393250.4_Missense_Mutation_p.D714N	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	756					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TGTATCATATCATTAAGTGGG	0.303																																						ENST00000261183.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						c.(2266-2268)Gat>Aat		oxysterol binding protein-like 8							112.0	100.0	104.0					12																	76763056		2202	4297	6499	SO:0001583	missense	114882				lipid transport		lipid binding	g.chr12:76763056C>T	AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.2266G>A	12.37:g.76763056C>T	ENSP00000261183:p.Asp756Asn					OSBPL8_ENST00000393249.2_Missense_Mutation_p.D714N|OSBPL8_ENST00000393250.4_Missense_Mutation_p.D714N	p.D756N	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN			21	2745	-			756					A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP	ENST00000261183.3	37	c.2266G>A	CCDS31862.1	.	.	.	.	.	.	.	.	.	.	C	31	5.078627	0.94050	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250	T;T;T	0.32272	1.46;1.46;1.46	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.64594	0.2612	M	0.89601	3.045	0.58432	D	0.999999	D	0.65815	0.995	D	0.67382	0.951	T	0.71869	-0.4462	10	0.87932	D	0	-20.6516	19.6445	0.95771	0.0:1.0:0.0:0.0	.	756	Q9BZF1	OSBL8_HUMAN	N	714;756;741;714	ENSP00000376939:D714N;ENSP00000261183:D756N;ENSP00000376940:D714N	ENSP00000261183:D756N	D	-	1	0	OSBPL8	75287187	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.350000	0.52224	2.637000	0.89404	0.563000	0.77884	GAT		0.303	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	NM_020841		8	42	0	0	0	0.069234	0	8	42				
DOK6	220164	broad.mit.edu	37	18	67266711	67266711	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr18:67266711C>T	ENST00000382713.5	+	3	456	c.266C>T	c.(265-267)tCg>tTg	p.S89L	RP11-465I4.2_ENST00000583991.1_RNA	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	89	PH.									central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GATGAAACATCGAAGACATTT	0.448																																						ENST00000382713.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20						c.(265-267)tCg>tTg		docking protein 6							101.0	78.0	86.0					18																	67266711		2203	4300	6503	SO:0001583	missense	220164						insulin receptor binding	g.chr18:67266711C>T	AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"""Pleckstrin homology (PH) domain containing"""	28301	protein-coding gene	gene with protein product		611402	"""docking protein 5-like"""	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.266C>T	18.37:g.67266711C>T	ENSP00000372160:p.Ser89Leu					RP11-465I4.2_ENST00000583991.1_RNA	p.S89L	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN			3	456	+		Colorectal(73;0.083)|Esophageal squamous(42;0.131)	89			PH.		A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Missense_Mutation	SNP	ENST00000382713.5	37	c.266C>T	CCDS32841.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.763544	0.69878	.	.	ENSG00000206052	ENST00000382713	T	0.78924	-1.22	5.91	5.91	0.95273	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.77903	0.4200	L	0.47716	1.5	0.80722	D	1	D	0.57899	0.981	P	0.47786	0.557	T	0.74538	-0.3632	10	0.27785	T	0.31	-2.6428	19.2865	0.94077	0.0:1.0:0.0:0.0	.	89	Q6PKX4	DOK6_HUMAN	L	89	ENSP00000372160:S89L	ENSP00000372160:S89L	S	+	2	0	DOK6	65417691	1.000000	0.71417	0.262000	0.24481	0.116000	0.19942	7.786000	0.85741	2.802000	0.96397	0.655000	0.94253	TCG		0.448	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442969.1	NM_152721		8	29	0	0	0	0.047766	0	8	29				
BAI2	576	broad.mit.edu	37	1	32193839	32193839	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr1:32193839C>T	ENST00000373658.3	-	31	4800	c.4459G>A	c.(4459-4461)Gag>Aag	p.E1487K	BAI2_ENST00000527361.1_Missense_Mutation_p.E1453K|BAI2_ENST00000398556.3_Missense_Mutation_p.E1402K|BAI2_ENST00000398538.1_Missense_Mutation_p.E1475K|BAI2_ENST00000398547.1_Missense_Mutation_p.E1420K|BAI2_ENST00000440175.2_Missense_Mutation_p.E1096K|BAI2_ENST00000373655.2_Missense_Mutation_p.E1486K|BAI2_ENST00000398542.1_Missense_Mutation_p.E1387K|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000257070.4_Missense_Mutation_p.E1453K	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1487					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TGGTTGAGCTCGTGGTAGAGT	0.637																																						ENST00000373658.3																			0				breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55						c.(4459-4461)Gag>Aag		brain-specific angiogenesis inhibitor 2							96.0	92.0	93.0					1																	32193839		2203	4300	6503	SO:0001583	missense	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32193839C>T	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.4459G>A	1.37:g.32193839C>T	ENSP00000362762:p.Glu1487Lys					BAI2_ENST00000257070.4_Missense_Mutation_p.E1453K|BAI2_ENST00000527361.1_Missense_Mutation_p.E1453K|BAI2_ENST00000398542.1_Missense_Mutation_p.E1387K|BAI2_ENST00000373655.2_Missense_Mutation_p.E1486K|BAI2_ENST00000398547.1_Missense_Mutation_p.E1420K|BAI2_ENST00000398538.1_Missense_Mutation_p.E1475K|BAI2_ENST00000398556.3_Missense_Mutation_p.E1402K|BAI2_ENST00000440175.2_Missense_Mutation_p.E1096K|BAI2_ENST00000465256.1_5'UTR	p.E1487K	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	31	4800	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	1487					B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	c.4459G>A	CCDS346.2	.	.	.	.	.	.	.	.	.	.	C	35	5.590471	0.96590	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538	T;T;T;T;T;T;T;T;T	0.08193	3.12;3.12;3.12;3.12;3.12;3.12;3.12;3.12;3.12	5.19	5.19	0.71726	.	0.000000	0.40908	D	0.000997	T	0.18635	0.0447	L	0.55990	1.75	0.58432	D	0.999994	D;D;P;D;D;D;D	0.60575	0.988;0.983;0.92;0.971;0.988;0.971;0.971	P;P;P;P;P;P;P	0.51701	0.677;0.66;0.459;0.459;0.677;0.459;0.459	T	0.00206	-1.1921	10	0.72032	D	0.01	.	18.6842	0.91558	0.0:1.0:0.0:0.0	.	1453;1475;1096;1402;1486;1487;1475	O60241-4;O60241-3;B4DKC3;A2A3C6;O60241-2;O60241;A2A3C2	.;.;.;.;.;BAI2_HUMAN;.	K	1402;1420;1487;1486;1387;1453;1453;1096;1475	ENSP00000381564:E1402K;ENSP00000381555:E1420K;ENSP00000362762:E1487K;ENSP00000362759:E1486K;ENSP00000381550:E1387K;ENSP00000257070:E1453K;ENSP00000435397:E1453K;ENSP00000391071:E1096K;ENSP00000381548:E1475K	ENSP00000257070:E1453K	E	-	1	0	BAI2	31966426	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.274000	0.78538	2.595000	0.87683	0.561000	0.74099	GAG		0.637	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		6	26	0	0	0	0.029380	0	6	26				
ATAD5	79915	broad.mit.edu	37	17	29220528	29220528	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr17:29220528G>C	ENST00000321990.4	+	21	5035	c.4657G>C	c.(4657-4659)Gaa>Caa	p.E1553Q		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1553					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GAAACACTCTGAAAGAGAACA	0.368																																						ENST00000321990.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(4657-4659)Gaa>Caa		ATPase family, AAA domain containing 5							38.0	45.0	43.0					17																	29220528		2199	4294	6493	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29220528G>C		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.4657G>C	17.37:g.29220528G>C	ENSP00000313171:p.Glu1553Gln						p.E1553Q	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN			21	5035	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	1553					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.4657G>C	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.537072	0.27475	.	.	ENSG00000176208	ENST00000321990	T	0.05925	3.37	4.84	4.84	0.62591	.	0.990706	0.08231	N	0.977556	T	0.09642	0.0237	L	0.43152	1.355	0.20196	N	0.99992	D	0.53619	0.961	B	0.44108	0.441	T	0.28073	-1.0055	10	0.51188	T	0.08	.	11.812	0.52188	0.0839:0.0:0.9161:0.0	.	1553	Q96QE3	ATAD5_HUMAN	Q	1553	ENSP00000313171:E1553Q	ENSP00000313171:E1553Q	E	+	1	0	ATAD5	26244654	0.998000	0.40836	0.997000	0.53966	0.272000	0.26649	3.396000	0.52565	2.505000	0.84491	0.591000	0.81541	GAA		0.368	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		19	28	0	0	0	0.204396	0	19	28				
SYNE1	23345	broad.mit.edu	37	6	152674420	152674420	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr6:152674420C>T	ENST00000367255.5	-	69	11832	c.11231G>A	c.(11230-11232)gGg>gAg	p.G3744E	SYNE1_ENST00000341594.5_Missense_Mutation_p.G3715E|SYNE1_ENST00000265368.4_Missense_Mutation_p.G3744E|SYNE1_ENST00000423061.1_Missense_Mutation_p.G3729E|SYNE1_ENST00000448038.1_Missense_Mutation_p.G3729E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3744					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)		CAATTTCTTCCCCATCATTAC	0.423										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.(11230-11232)gGg>gAg		spectrin repeat containing, nuclear envelope 1							225.0	205.0	212.0					6																	152674420		2203	4300	6503	SO:0001583	missense	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.chr6:152674420C>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.11231G>A	6.37:g.152674420C>T	ENSP00000356224:p.Gly3744Glu	HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Missense_Mutation_p.G3729E|SYNE1_ENST00000265368.4_Missense_Mutation_p.G3744E|SYNE1_ENST00000341594.5_Missense_Mutation_p.G3715E|SYNE1_ENST00000448038.1_Missense_Mutation_p.G3729E	p.G3744E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	69	11832	-		Ovarian(120;0.0955)	3744					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.11231G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	6.808	0.518128	0.13005	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.47528	0.93;0.93;0.84;0.93;1.72	5.75	1.44	0.22558	.	0.420397	0.22524	N	0.058934	T	0.08447	0.0210	N	0.15975	0.35	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.001;0.001;0.002	T	0.35574	-0.9783	10	0.02654	T	1	.	8.1915	0.31370	0.0:0.488:0.0:0.512	.	3744;3744;3744;3729	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	E	3744;3729;3744;3729;3715	ENSP00000356224:G3744E;ENSP00000396024:G3729E;ENSP00000265368:G3744E;ENSP00000390975:G3729E;ENSP00000341887:G3715E	ENSP00000265368:G3744E	G	-	2	0	SYNE1	152716113	1.000000	0.71417	0.999000	0.59377	0.126000	0.20510	1.622000	0.36997	0.354000	0.24105	0.655000	0.94253	GGG		0.423	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		38	149	0	0	0	0.235728	0	38	149				
MLH1	4292	broad.mit.edu	37	3	37056031	37056031	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr3:37056031C>G	ENST00000231790.2	+	9	1002	c.786C>G	c.(784-786)atC>atG	p.I262M	MLH1_ENST00000455445.2_Missense_Mutation_p.I21M|MLH1_ENST00000536378.1_Missense_Mutation_p.I21M|MLH1_ENST00000435176.1_Missense_Mutation_p.I164M|MLH1_ENST00000539477.1_Missense_Mutation_p.I21M|MLH1_ENST00000458205.2_Missense_Mutation_p.I21M	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	262			Missing (in HNPCC2).|Missing (in HNPCC2). {ECO:0000269|PubMed:9833759}.		ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TACTCTTCATCAACCGTAAGT	0.383		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000231790.2		1	yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	"""D, Mis, N, F, S"""	E.coli MutL homolog gene			"""E, O"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		1	Whole gene deletion(1)	p.0?(1)	ovary(1)	NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						c.(784-786)atC>atG	Mismatch excision repair (MMR)	mutL homolog 1							58.0	53.0	55.0					3																	37056031		2203	4300	6503	SO:0001583	missense	4292	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	g.chr3:37056031C>G	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.786C>G	3.37:g.37056031C>G	ENSP00000231790:p.Ile262Met					MLH1_ENST00000435176.1_Missense_Mutation_p.I164M|MLH1_ENST00000539477.1_Missense_Mutation_p.I21M|MLH1_ENST00000455445.2_Missense_Mutation_p.I21M|MLH1_ENST00000536378.1_Missense_Mutation_p.I21M|MLH1_ENST00000458205.2_Missense_Mutation_p.I21M	p.I262M	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN			9	1002	+			262		Missing (in HNPCC2).			B4DI13|B4DQ11|E9PCU2	Missense_Mutation	SNP	ENST00000231790.2	37	c.786C>G	CCDS2663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.60|18.60	3.659082|3.659082	0.67586|0.67586	.|.	.|.	ENSG00000076242|ENSG00000076242	ENST00000231790;ENST00000436867;ENST00000537937;ENST00000383761;ENST00000458205;ENST00000539477;ENST00000455445;ENST00000435176;ENST00000441265;ENST00000536378|ENST00000456676	D;D;D;D;D;D;D|.	0.88277|.	-2.36;-2.36;-2.36;-2.36;-2.36;-2.36;-2.36|.	5.43|5.43	4.55|4.55	0.56014|0.56014	Ribosomal protein S5 domain 2-type fold (1);DNA mismatch repair protein, N-terminal (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);DNA mismatch repair protein, C-terminal (1);|.	0.112804|.	0.64402|.	D|.	0.000015|.	T|.	0.81074|.	0.4747|.	H|H	0.96269|0.96269	3.795|3.795	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.85130|.	0.997;0.997;0.997|.	T|.	0.82528|.	-0.0412|.	10|.	0.87932|.	D|.	0|.	-17.083|-17.083	5.4794|5.4794	0.16715|0.16715	0.2034:0.6325:0.0:0.164|0.2034:0.6325:0.0:0.164	.|.	164;262;262|.	E9PCU2;Q53GX1;P40692|.	.;.;MLH1_HUMAN|.	M|X	262;228;228;126;21;21;21;164;21;21|254	ENSP00000231790:I262M;ENSP00000402667:I21M;ENSP00000443665:I21M;ENSP00000398272:I21M;ENSP00000402564:I164M;ENSP00000398392:I21M;ENSP00000444286:I21M|.	ENSP00000231790:I262M|.	I|S	+|+	3|2	3|0	MLH1|MLH1	37031035|37031035	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.506000|1.506000	0.35747|0.35747	1.288000|1.288000	0.44600|0.44600	0.591000|0.591000	0.81541|0.81541	ATC|TCA		0.383	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		10	25	0	0	0	0.058154	0	10	25				
ABCC8	6833	broad.mit.edu	37	11	17428629	17428629	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr11:17428629G>A	ENST00000389817.3	-	25	3036	c.2968C>T	c.(2968-2970)Cac>Tac	p.H990Y	ABCC8_ENST00000302539.4_Missense_Mutation_p.H991Y			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	990					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	GCACGCTGGTGCAGCATGGAC	0.607																																						ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(2971-2973)Cac>Tac		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						76.0	70.0	72.0					11																	17428629		2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17428629G>A	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.2968C>T	11.37:g.17428629G>A	ENSP00000374467:p.His990Tyr					ABCC8_ENST00000389817.3_Missense_Mutation_p.H990Y	p.H991Y	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	25	3096	-			990					A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.2971C>T	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033582	0.54896	.	.	ENSG00000006071	ENST00000389817;ENST00000302539	D;D	0.91351	-2.83;-2.83	6.17	6.17	0.99709	ABC transporter, transmembrane domain, type 1 (1);	0.052196	0.85682	D	0.000000	D	0.88058	0.6335	L	0.44542	1.39	0.45452	D	0.998423	P	0.35033	0.481	B	0.36030	0.216	D	0.87147	0.2206	10	0.56958	D	0.05	.	15.581	0.76439	0.0:0.0:0.8623:0.1377	.	990	Q09428	ABCC8_HUMAN	Y	990;991	ENSP00000374467:H990Y;ENSP00000303960:H991Y	ENSP00000303960:H991Y	H	-	1	0	ABCC8	17385205	1.000000	0.71417	1.000000	0.80357	0.590000	0.36582	6.315000	0.72853	2.941000	0.99782	0.655000	0.94253	CAC		0.607	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		8	23	0	0	0	0.047766	0	8	23				
FREM1	158326	broad.mit.edu	37	9	14740170	14740170	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr9:14740170C>G	ENST00000380880.3	-	36	7100	c.6317G>C	c.(6316-6318)gGt>gCt	p.G2106A	FREM1_ENST00000380881.4_Missense_Mutation_p.G2107A|FREM1_ENST00000422223.2_Missense_Mutation_p.G2106A|FREM1_ENST00000380894.1_Missense_Mutation_p.G642A			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	2106	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				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)		CTTTCTCCCACCAATGTCCCA	0.502																																						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.(6319-6321)gGt>gCt		FRAS1 related extracellular matrix 1							110.0	111.0	110.0					9																	14740170		1999	4171	6170	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14740170C>G	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.6317G>C	9.37:g.14740170C>G	ENSP00000370262:p.Gly2106Ala					FREM1_ENST00000380880.3_Missense_Mutation_p.G2106A|FREM1_ENST00000380894.1_Missense_Mutation_p.G642A|FREM1_ENST00000422223.2_Missense_Mutation_p.G2106A	p.G2107A			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	37	7135	-			2106			C-type lectin.		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.6320G>C	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.181889	0.38511	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880	T;T;T;T	0.15256	2.44;2.44;2.44;2.44	5.83	5.83	0.93111	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.203905	0.64402	D	0.000012	T	0.10165	0.0249	N	0.03304	-0.355	0.40309	D	0.978697	B;B	0.18013	0.025;0.025	B;B	0.23574	0.014;0.047	T	0.33879	-0.9851	10	0.16420	T	0.52	-2.8169	20.1338	0.98010	0.0:1.0:0.0:0.0	.	2106;642	Q5H8C1;B7ZBX4	FREM1_HUMAN;.	A	2107;2106;642;2106	ENSP00000370263:G2107A;ENSP00000412940:G2106A;ENSP00000370278:G642A;ENSP00000370262:G2106A	ENSP00000370262:G2106A	G	-	2	0	FREM1	14730170	1.000000	0.71417	0.915000	0.36163	0.967000	0.64934	5.150000	0.64869	2.770000	0.95276	0.655000	0.94253	GGT		0.502	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		11	162	0	0	0	0.105934	0	11	162				
PCDHA13	56136	broad.mit.edu	37	5	140263705	140263705	+	Missense_Mutation	SNP	G	G	A	rs558387300		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr5:140263705G>A	ENST00000289272.2	+	1	1852	c.1852G>A	c.(1852-1854)Gcg>Acg	p.A618T	PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.A618T|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	618	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGGTCGGCGCGCGCATCCC	0.687																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			0				NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(1852-1854)Gcg>Acg									53.0	59.0	57.0					5																	140263705		2201	4297	6498	SO:0001583	missense	56136							g.chr5:140263705G>A	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1852G>A	5.37:g.140263705G>A	ENSP00000289272:p.Ala618Thr					PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.A618T|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron	p.A618T	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1852	+								O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.1852G>A	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	G	0.742	-0.775902	0.02951	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.20463	2.07;2.07	3.97	1.09	0.20402	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.12561	0.0305	L	0.31752	0.955	0.09310	N	1	B;B;B	0.25390	0.002;0.025;0.125	B;B;B	0.13407	0.003;0.009;0.009	T	0.26467	-1.0102	9	0.54805	T	0.06	.	3.3524	0.07156	0.0944:0.1405:0.4739:0.2912	.	618;618;618	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	T	618	ENSP00000386821:A618T;ENSP00000289272:A618T	ENSP00000289272:A618T	A	+	1	0	PCDHA13	140243889	0.000000	0.05858	0.001000	0.08648	0.108000	0.19459	-0.463000	0.06696	-0.245000	0.09625	-0.808000	0.03180	GCG		0.687	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		25	48	0	0	0	0.083992	0	25	48				
EPHA2	1969	broad.mit.edu	37	1	16464477	16464478	+	Frame_Shift_Ins	INS	-	-	G	rs139909813		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr1:16464477_16464478insG	ENST00000358432.5	-	5	1336_1337	c.1182_1183insC	c.(1180-1185)cgcaccfs	p.T395fs		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	395	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	GTCACACTGGTGCGGGTCAGTC	0.644																																						ENST00000358432.5																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(1180-1185)cgccagfs		EPH receptor A2	Dasatinib(DB01254)																																			SO:0001589	frameshift_variant	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16464477_16464478insG	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1183dupC	1.37:g.16464478_16464478dupG	ENSP00000351209:p.Thr395fs						p.Q395fs	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	5	1336_1337	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	395			Fibronectin type-III 1.		B5A968|Q8N3Z2	Frame_Shift_Ins	INS	ENST00000358432.5	37	c.1182_1183insC	CCDS169.1																																																																																				0.644	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		9	9						9	9	---	---	---	---
FBXW7	55294	broad.mit.edu	37	4	153247377	153247379	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr4:153247377_153247379delAAC	ENST00000281708.4	-	10	2652_2654	c.1423_1425delGTT	c.(1423-1425)gttdel	p.V475del	FBXW7_ENST00000296555.5_In_Frame_Del_p.V357del|FBXW7_ENST00000603841.1_In_Frame_Del_p.V475del|FBXW7_ENST00000263981.5_In_Frame_Del_p.V395del|FBXW7_ENST00000393956.3_In_Frame_Del_p.V299del|FBXW7_ENST00000603548.1_In_Frame_Del_p.V475del	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	475					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GAGAACCGCTAACAACTCTGCAG	0.389			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1423-1425)del		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase																																				SO:0001651	inframe_deletion	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153247377_153247379delAAC	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1423_1425delGTT	4.37:g.153247380_153247382delAAC	ENSP00000281708:p.Val475del					FBXW7_ENST00000603841.1_In_Frame_Del_p.V475del|FBXW7_ENST00000393956.3_In_Frame_Del_p.V299del|FBXW7_ENST00000296555.5_In_Frame_Del_p.V357del|FBXW7_ENST00000603548.1_In_Frame_Del_p.V475del|FBXW7_ENST00000263981.5_In_Frame_Del_p.V395del	p.V475del	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			10	2652_2654	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	475					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	In_Frame_Del	DEL	ENST00000281708.4	37	c.1423_1425delGTT	CCDS3777.1																																																																																				0.389	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			16	60						16	60	---	---	---	---
DAB2IP	153090	broad.mit.edu	37	9	124522529	124522529	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr9:124522529delG	ENST00000408936.3	+	6	1163	c.981delG	c.(979-981)atgfs	p.M327fs	DAB2IP_ENST00000259371.2_Frame_Shift_Del_p.M299fs|DAB2IP_ENST00000309989.1_Frame_Shift_Del_p.M203fs			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	327					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CTGGACCCATGATCCGCATCA	0.622																																						ENST00000408936.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(979-981)atfs		DAB2 interacting protein							83.0	64.0	70.0					9																	124522529		2203	4300	6503	SO:0001589	frameshift_variant	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124522529delG	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.981delG	9.37:g.124522529delG	ENSP00000386183:p.Met327fs					DAB2IP_ENST00000309989.1_Frame_Shift_Del_p.M203fs|DAB2IP_ENST00000259371.2_Frame_Shift_Del_p.M299fs	p.M327fs			Q5VWQ8	DAB2P_HUMAN			6	1163	+			327					A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Frame_Shift_Del	DEL	ENST00000408936.3	37	c.981delG																																																																																					0.622	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		16	12						16	12	---	---	---	---
CAMSAP1	157922	broad.mit.edu	37	9	138715799	138715800	+	Frame_Shift_Ins	INS	-	-	T	rs148250832|rs201838505	byFrequency	TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr9:138715799_138715800insT	ENST00000389532.4	-	10	1460_1461	c.1396_1397insA	c.(1396-1398)accfs	p.T466fs	CAMSAP1_ENST00000312405.6_Frame_Shift_Ins_p.T188fs|CAMSAP1_ENST00000409386.3_Frame_Shift_Ins_p.T477fs|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	466					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GACTCACCTGGTTTTTTTTTCT	0.46																																						ENST00000389532.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(1396-1398)cagfs		calmodulin regulated spectrin-associated protein 1																																				SO:0001589	frameshift_variant	157922					cytoplasm|microtubule		g.chr9:138715799_138715800insT	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.1397dupA	9.37:g.138715808_138715808dupT	ENSP00000374183:p.Thr466fs					CAMSAP1_ENST00000409386.3_Frame_Shift_Ins_p.Q477fs|CAMSAP1_ENST00000312405.6_Frame_Shift_Ins_p.Q188fs|CAMSAP1_ENST00000483991.1_5'UTR	p.Q466fs	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	10	1460_1461	-			466					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Frame_Shift_Ins	INS	ENST00000389532.4	37	c.1396_1397insA	CCDS35176.2																																																																																				0.460	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		2	4						2	4	---	---	---	---
USP2-AS1	100499227	broad.mit.edu	37	11	119274164	119274164	+	RNA	DEL	A	A	-			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr11:119274164delA	ENST00000498979.2	+	0	273				USP2-AS1_ENST00000577297.1_RNA|USP2-AS1_ENST00000530002.1_RNA|USP2-AS1_ENST00000500970.1_RNA|USP2-AS1_ENST00000578923.1_RNA	NR_034160.1				USP2 antisense RNA 1 (head to head)																		ttttttttttATCTCATGCAG	0.348																																						ENST00000498979.2																			0																																																			100499227							g.chr11:119274164delA			11q23.3	2013-06-06			ENSG00000245248	ENSG00000245248		"""Long non-coding RNAs"""	48673	non-coding RNA	RNA, long non-coding							Standard	NR_034160		Approved	THY1-AS1			OTTHUMG00000166173		11.37:g.119274164delA						USP2-AS1_ENST00000578923.1_RNA|USP2-AS1_ENST00000577297.1_RNA|USP2-AS1_ENST00000530002.1_RNA|USP2-AS1_ENST00000500970.1_RNA		NR_034160.1						0	273	+									RNA	DEL	ENST00000498979.2	37																																																																																						0.348	USP2-AS1-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000388222.2			2	4						2	4	---	---	---	---
GABRE	2564	broad.mit.edu	37	X	151138747	151138752	+	In_Frame_Del	DEL	CAGTCT	CAGTCT	-			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chrX:151138747_151138752delCAGTCT	ENST00000370328.3	-	2	232_237	c.179_184delAGACTG	c.(178-186)gagactggg>ggg	p.ET60del	GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370325.1_In_Frame_Del_p.ET60del	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	60					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ACTCTGCTCCCAGTCTCAGTCTCAGT	0.519																																						ENST00000370325.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27						c.(178-186)ggg>g		gamma-aminobutyric acid (GABA) A receptor, epsilon																																				SO:0001651	inframe_deletion	2564				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151138747_151138752delCAGTCT	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.179_184delAGACTG	X.37:g.151138753_151138758delCAGTCT	ENSP00000359353:p.Glu60_Thr61del					GABRE_ENST00000370328.3_In_Frame_Del_p.ETG60del|GABRE_ENST00000393914.3_5'UTR	p.ETG60del			P78334	GBRE_HUMAN			2	232_237	-	Acute lymphoblastic leukemia(192;6.56e-05)		60					E7ET93|O15345|O15346|Q6PCD2|Q99520	In_Frame_Del	DEL	ENST00000370328.3	37	c.179_184delAGACTG	CCDS14703.1																																																																																				0.519	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		38	138						38	138	---	---	---	---
EPHA2	1969	broad.mit.edu	37	1	16464477	16464478	+	Frame_Shift_Ins	INS	-	-	G	rs139909813		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr1:16464477_16464478insG	ENST00000358432.5	-	5	1336_1337	c.1182_1183insC	c.(1180-1185)cgcaccfs	p.T395fs		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	395	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	GTCACACTGGTGCGGGTCAGTC	0.644																																						ENST00000358432.5																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(1180-1185)cgccagfs		EPH receptor A2	Dasatinib(DB01254)																																			SO:0001589	frameshift_variant	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16464477_16464478insG	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1183dupC	1.37:g.16464478_16464478dupG	ENSP00000351209:p.Thr395fs						p.Q395fs	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	5	1336_1337	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	395			Fibronectin type-III 1.		B5A968|Q8N3Z2	Frame_Shift_Ins	INS	ENST00000358432.5	37	c.1182_1183insC	CCDS169.1																																																																																				0.644	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		9	9						9	9	---	---	---	---
FBXW7	55294	broad.mit.edu	37	4	153247377	153247379	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr4:153247377_153247379delAAC	ENST00000281708.4	-	10	2652_2654	c.1423_1425delGTT	c.(1423-1425)gttdel	p.V475del	FBXW7_ENST00000296555.5_In_Frame_Del_p.V357del|FBXW7_ENST00000603841.1_In_Frame_Del_p.V475del|FBXW7_ENST00000263981.5_In_Frame_Del_p.V395del|FBXW7_ENST00000393956.3_In_Frame_Del_p.V299del|FBXW7_ENST00000603548.1_In_Frame_Del_p.V475del	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	475					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GAGAACCGCTAACAACTCTGCAG	0.389			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1423-1425)del		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase																																				SO:0001651	inframe_deletion	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153247377_153247379delAAC	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1423_1425delGTT	4.37:g.153247380_153247382delAAC	ENSP00000281708:p.Val475del					FBXW7_ENST00000296555.5_In_Frame_Del_p.V357del|FBXW7_ENST00000263981.5_In_Frame_Del_p.V395del|FBXW7_ENST00000603841.1_In_Frame_Del_p.V475del|FBXW7_ENST00000603548.1_In_Frame_Del_p.V475del|FBXW7_ENST00000393956.3_In_Frame_Del_p.V299del	p.V475del	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			10	2652_2654	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	475					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	In_Frame_Del	DEL	ENST00000281708.4	37	c.1423_1425delGTT	CCDS3777.1																																																																																				0.389	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			16	60						16	60	---	---	---	---
FAM21EP	100421577	broad.mit.edu	37	10	51814320	51814320	+	RNA	DEL	A	A	-	rs11306955|rs63143662	byFrequency	TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr10:51814320delA	ENST00000456967.1	-	0	1657					NR_038275.1																						AACTCTATTGAGAAAAACCTG	0.358													|||unknown(NO_COVERAGE)	3795	0.757788	0.3828	0.8372	5008	,	,		17665	0.9702		0.835	False		,,,				2504	0.91					ENST00000456967.1																			0																																																			100421577							g.chr10:51814320delA																													10.37:g.51814320delA								NR_038275.1						0	1657	-									RNA	DEL	ENST00000456967.1	37																																																																																						0.358	RP11-324H6.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000048059.1			8	8						8	8	---	---	---	---
USP2-AS1	100499227	broad.mit.edu	37	11	119274164	119274164	+	RNA	DEL	A	A	-			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr11:119274164delA	ENST00000498979.2	+	0	273				USP2-AS1_ENST00000577297.1_RNA|USP2-AS1_ENST00000530002.1_RNA|USP2-AS1_ENST00000500970.1_RNA|USP2-AS1_ENST00000578923.1_RNA	NR_034160.1				USP2 antisense RNA 1 (head to head)																		ttttttttttATCTCATGCAG	0.348																																						ENST00000498979.2																			0																																																			100499227							g.chr11:119274164delA			11q23.3	2013-06-06			ENSG00000245248	ENSG00000245248		"""Long non-coding RNAs"""	48673	non-coding RNA	RNA, long non-coding							Standard	NR_034160		Approved	THY1-AS1			OTTHUMG00000166173		11.37:g.119274164delA						USP2-AS1_ENST00000578923.1_RNA|USP2-AS1_ENST00000577297.1_RNA|USP2-AS1_ENST00000530002.1_RNA|USP2-AS1_ENST00000500970.1_RNA		NR_034160.1						0	273	+									RNA	DEL	ENST00000498979.2	37																																																																																						0.348	USP2-AS1-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000388222.2			2	4						2	4	---	---	---	---
