#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
RNF220	55182	broad.mit.edu	37	1	44878151	44878151	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:44878151G>A	ENST00000355387.2	+	2	832	c.382G>A	c.(382-384)Gac>Aac	p.D128N	RNF220_ENST00000361799.2_Missense_Mutation_p.D128N|RNF220_ENST00000372247.2_Missense_Mutation_p.D128N			Q5VTB9	RN220_HUMAN	ring finger protein 220	128					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CTCCACCGAGGACCGGGAGAG	0.552																																						uc001clv.1		NA																	0				ovary(2)	2						c.(382-384)GAC>AAC		ring finger protein 220							90.0	93.0	92.0					1																	44878151		2203	4300	6503	SO:0001583	missense	55182				protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr1:44878151G>A	AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"""RING-type (C3HC4) zinc fingers"""	25552	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 164"""	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.382G>A	1.37:g.44878151G>A	ENSP00000347548:p.Asp128Asn					RNF220_uc001clw.1_Missense_Mutation_p.D128N	p.D128N	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN			2	742	+			128					B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Missense_Mutation	SNP	ENST00000355387.2	37	c.382G>A	CCDS510.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419421	0.62622	.	.	ENSG00000187147	ENST00000355387;ENST00000361799;ENST00000453887;ENST00000372247	.	.	.	5.69	5.69	0.88448	.	0.112582	0.64402	D	0.000016	T	0.53174	0.1780	N	0.24115	0.695	0.80722	D	1	B	0.29531	0.247	B	0.28139	0.086	T	0.54938	-0.8218	9	0.87932	D	0	.	19.8074	0.96536	0.0:0.0:1.0:0.0	.	128	Q5VTB9	RN220_HUMAN	N	128	.	ENSP00000347548:D128N	D	+	1	0	RNF220	44650738	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.230000	0.95299	2.684000	0.91462	0.655000	0.94253	GAC		0.552	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	NM_018150		25	95	0	0	0	0	25	95				
COA7	65260	broad.mit.edu	37	1	53158471	53158471	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:53158471T>C	ENST00000371538.3	-	2	214	c.175A>G	c.(175-177)Aag>Gag	p.K59E	SELRC1_ENST00000486918.1_5'UTR	NM_023077.2	NP_075565.2														breast(1)|lung(3)|prostate(1)|urinary_tract(1)	6						CAGTTAAACTTCAACACCTTG	0.498																																						uc001cui.1		NA																	0					0						c.(175-177)AAG>GAG		hypothetical protein LOC65260							125.0	124.0	124.0					1																	53158471		2203	4300	6503	SO:0001583	missense	65260						binding	g.chr1:53158471T>C																												ENST00000371538.3:c.175A>G	1.37:g.53158471T>C	ENSP00000360593:p.Lys59Glu						p.K59E	NM_023077	NP_075565	Q96BR5	SELR1_HUMAN			2	215	-			59			Sel1-like 1.			Missense_Mutation	SNP	ENST00000371538.3	37	c.175A>G	CCDS570.1	.	.	.	.	.	.	.	.	.	.	T	17.81	3.481095	0.63849	.	.	ENSG00000162377	ENST00000371538	T	0.51071	0.72	6.0	6.0	0.97389	Tetratricopeptide-like helical (1);	0.098827	0.64402	D	0.000002	T	0.47691	0.1459	M	0.76170	2.325	0.53005	D	0.999966	P	0.48294	0.908	B	0.41860	0.368	T	0.48375	-0.9041	10	0.14656	T	0.56	0.4583	13.1608	0.59542	0.0:0.0:0.1416:0.8584	.	59	Q96BR5	SELR1_HUMAN	E	59	ENSP00000360593:K59E	ENSP00000360593:K59E	K	-	1	0	SELRC1	52931059	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.475000	0.53136	2.297000	0.77311	0.533000	0.62120	AAG		0.498	SELRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023462.1			22	67	0	0	0	0	22	67				
HOOK1	51361	broad.mit.edu	37	1	60309235	60309235	+	Silent	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:60309235A>G	ENST00000371208.3	+	9	1010	c.753A>G	c.(751-753)caA>caG	p.Q251Q	HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Silent_p.Q209Q	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	251	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					TTCATGCACAATTACAACTAG	0.333																																						uc009wad.2		NA																	0				ovary(1)|breast(1)	2						c.(751-753)CAA>CAG		hook homolog 1							67.0	68.0	68.0					1																	60309235		2201	4299	6500	SO:0001819	synonymous_variant	51361				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding	g.chr1:60309235A>G	AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"""hook homolog 1 (Drosophila)"""			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.753A>G	1.37:g.60309235A>G						HOOK1_uc001czo.2_Silent_p.Q251Q|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Silent_p.Q209Q	p.Q251Q	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN			10	855	+	all_cancers(7;0.000129)		251			Potential.|Sufficient for interaction with microtubules.		A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Silent	SNP	ENST00000371208.3	37	c.753A>G	CCDS612.1																																																																																				0.333	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1	NM_015888		14	31	0	0	0	0	14	31				
WDR63	126820	broad.mit.edu	37	1	85547058	85547058	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:85547058C>A	ENST00000294664.6	+	4	425	c.245C>A	c.(244-246)gCt>gAt	p.A82D	WDR63_ENST00000370596.1_Missense_Mutation_p.A82D|WDR63_ENST00000326813.8_Missense_Mutation_p.A82D	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	82								p.A82D(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		CGCAACAGAGCTGCAGTATCT	0.368																																						uc001dkt.2		NA																	1	Substitution - Missense(1)	p.A82D(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5						c.(244-246)GCT>GAT		WD repeat domain 63							98.0	99.0	99.0					1																	85547058		2203	4300	6503	SO:0001583	missense	126820							g.chr1:85547058C>A		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.245C>A	1.37:g.85547058C>A	ENSP00000294664:p.Ala82Asp					WDR63_uc009wcl.2_Missense_Mutation_p.A82D	p.A82D	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	4	436	+			82					A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	ENST00000294664.6	37	c.245C>A	CCDS702.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.311023	0.60414	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664;ENST00000528899	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.84	3.95	0.45737	.	0.100209	0.64402	D	0.000002	T	0.57080	0.2029	M	0.81497	2.545	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.72075	0.976;0.947	T	0.64153	-0.6474	10	0.49607	T	0.09	-1.7867	16.4813	0.84158	0.0:0.7345:0.2655:0.0	.	82;82	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	D	82;82;82;69	ENSP00000359628:A82D;ENSP00000317463:A82D;ENSP00000294664:A82D;ENSP00000435102:A69D	ENSP00000294664:A82D	A	+	2	0	WDR63	85319646	1.000000	0.71417	1.000000	0.80357	0.362000	0.29581	3.617000	0.54181	0.786000	0.33708	-0.219000	0.12488	GCT		0.368	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172		13	50	1	0	0.000308642	0.000331116	13	50				
SASS6	163786	broad.mit.edu	37	1	100591488	100591488	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:100591488T>C	ENST00000287482.5	-	2	216	c.76A>G	c.(76-78)Ata>Gta	p.I26V	SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_5'UTR	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	26					centriole replication (GO:0007099)|centrosome duplication (GO:0051298)	centriole (GO:0005814)|centrosome (GO:0005813)|deuterosome (GO:0098536)		p.I26V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		CTCATTCTTATACTTACTCTC	0.333																																						uc001dsu.2		NA																	1	Substitution - Missense(1)	p.I26V(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(76-78)ATA>GTA		spindle assembly abnormal protein 6							151.0	150.0	150.0					1																	100591488		2203	4299	6502	SO:0001583	missense	163786				centriole replication	centriole		g.chr1:100591488T>C	AL834265	CCDS764.1	1p21.3	2008-02-05			ENSG00000156876	ENSG00000156876			25403	protein-coding gene	gene with protein product		609321				15665853, 14654843	Standard	NM_194292		Approved	DKFZp761A078, SAS-6, FLJ22097, SAS6	uc001dsu.3	Q6UVJ0	OTTHUMG00000010754	ENST00000287482.5:c.76A>G	1.37:g.100591488T>C	ENSP00000287482:p.Ile26Val					SASS6_uc009wdz.2_5'UTR	p.I26V	NM_194292	NP_919268	Q6UVJ0	SAS6_HUMAN		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)	2	217	-		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	26					D3DT55|Q8N3K0	Missense_Mutation	SNP	ENST00000287482.5	37	c.76A>G	CCDS764.1	.	.	.	.	.	.	.	.	.	.	T	2.855	-0.237505	0.05944	.	.	ENSG00000156876	ENST00000287482	T	0.42513	0.97	5.94	4.04	0.47022	.	0.256302	0.39834	N	0.001256	T	0.04634	0.0126	N	0.01438	-0.865	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37934	-0.9684	10	0.02654	T	1	-7.4747	10.6949	0.45892	0.0:0.8386:0.0:0.1614	.	26	Q6UVJ0	SAS6_HUMAN	V	26	ENSP00000287482:I26V	ENSP00000287482:I26V	I	-	1	0	SASS6	100364076	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	1.637000	0.37155	0.801000	0.34066	-0.366000	0.07423	ATA		0.333	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029656.2	NM_194292		22	58	0	0	0	0	22	58				
VAV3	10451	broad.mit.edu	37	1	108116684	108116684	+	Silent	SNP	T	T	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:108116684T>A	ENST00000370056.4	-	26	2761	c.2487A>T	c.(2485-2487)ggA>ggT	p.G829G	VAV3_ENST00000527011.1_Silent_p.G857G|VAV3_ENST00000544443.1_Silent_p.G233G|VAV3_ENST00000415432.2_Silent_p.G269G|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	829	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.|Sufficient for interaction with ROS1.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CATTTACTTCTCCTCTCCACC	0.483																																						uc001dvk.1		NA																	0				ovary(5)|lung(2)|breast(2)	9						c.(2485-2487)GGA>GGT		vav 3 guanine nucleotide exchange factor isoform							313.0	276.0	289.0					1																	108116684		2203	4300	6503	SO:0001819	synonymous_variant	10451				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr1:108116684T>A	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.2487A>T	1.37:g.108116684T>A						VAV3_uc010ouu.1_Silent_p.G261G|VAV3_uc001dvj.1_Silent_p.G269G|VAV3_uc010ouv.1_Silent_p.G233G|VAV3_uc010ouw.1_Silent_p.G857G	p.G829G	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	26	2541	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	829			SH3 2.		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Silent	SNP	ENST00000370056.4	37	c.2487A>T	CCDS785.1																																																																																				0.483	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		47	209	0	0	0	0	47	209				
LRIG2	9860	broad.mit.edu	37	1	113657294	113657294	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:113657294C>T	ENST00000361127.5	+	15	2524	c.2326C>T	c.(2326-2328)Cgt>Tgt	p.R776C	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	776	Ig-like C2-type 3.				innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TGGGACAGAACGTGGCCACAT	0.463																																						uc001edf.1		NA																	0				ovary(3)	3						c.(2326-2328)CGT>TGT		leucine-rich repeats and immunoglobulin-like							193.0	166.0	175.0					1																	113657294		2203	4300	6503	SO:0001583	missense	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113657294C>T	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.2326C>T	1.37:g.113657294C>T	ENSP00000355396:p.Arg776Cys					LRIG2_uc009wgn.1_Missense_Mutation_p.R673C	p.R776C	NM_014813	NP_055628	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	15	2524	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	776			Ig-like C2-type 3.|Extracellular (Potential).		Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	c.2326C>T	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.839331	0.51057	.	.	ENSG00000198799	ENST00000361127	T	0.67698	-0.28	5.42	4.51	0.55191	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.54759	0.1878	M	0.84511	2.7	0.58432	D	0.999999	B	0.23891	0.093	B	0.18263	0.021	T	0.63510	-0.6621	10	0.72032	D	0.01	.	9.0711	0.36493	0.146:0.7798:0.0:0.0742	.	776	O94898	LRIG2_HUMAN	C	776	ENSP00000355396:R776C	ENSP00000355396:R776C	R	+	1	0	LRIG2	113458817	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.907000	0.56348	1.281000	0.44480	0.555000	0.69702	CGT		0.463	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		25	104	0	0	0	0	25	104				
HIPK1	204851	broad.mit.edu	37	1	114499830	114499830	+	Silent	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:114499830C>T	ENST00000369558.1	+	7	1909	c.1677C>T	c.(1675-1677)ttC>ttT	p.F559F	HIPK1_ENST00000406344.1_Silent_p.F165F|HIPK1_ENST00000369561.4_Intron|HIPK1_ENST00000369555.2_Silent_p.F559F|HIPK1_ENST00000369559.4_Silent_p.F559F|HIPK1_ENST00000426820.2_Silent_p.F559F|HIPK1_ENST00000369553.1_Silent_p.F165F|HIPK1_ENST00000340480.4_Silent_p.F185F|HIPK1_ENST00000369554.2_Silent_p.F559F			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	559					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAGTCCCTTCACTACACATG	0.393																																						uc001eem.2		NA																	0				ovary(4)	4						c.(1675-1677)TTC>TTT		homeodomain-interacting protein kinase 1 isoform							148.0	124.0	132.0					1																	114499830		2203	4300	6503	SO:0001819	synonymous_variant	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114499830C>T	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.1677C>T	1.37:g.114499830C>T						HIPK1_uc001eel.2_Silent_p.F559F|HIPK1_uc001een.2_Silent_p.F559F|HIPK1_uc001eeo.2_Silent_p.F185F|HIPK1_uc001eep.2_Silent_p.F165F	p.F559F	NM_198268	NP_938009	Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	7	1838	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	559					A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Silent	SNP	ENST00000369558.1	37	c.1677C>T	CCDS867.1																																																																																				0.393	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		12	43	0	0	0	0	12	43				
IGSF3	3321	broad.mit.edu	37	1	117158883	117158883	+	Silent	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:117158883G>A	ENST00000369486.3	-	3	1005	c.240C>T	c.(238-240)ccC>ccT	p.P80P	IGSF3_ENST00000369483.1_Silent_p.P80P|IGSF3_ENST00000318837.6_Silent_p.P80P	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	80	Ig-like C2-type 1.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AGATGGCATAGGGGAAGGAAG	0.557																																						uc001egr.1		NA																	0				ovary(2)	2						c.(238-240)CCC>CCT		immunoglobulin superfamily, member 3 isoform 2							9.0	10.0	10.0					1																	117158883		2176	4228	6404	SO:0001819	synonymous_variant	3321					integral to membrane		g.chr1:117158883G>A	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.240C>T	1.37:g.117158883G>A						IGSF3_uc001egq.1_Silent_p.P80P	p.P80P	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	3	945	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	80			Ig-like C2-type 1.|Extracellular (Potential).		A6NJZ6|A6NMC7	Silent	SNP	ENST00000369486.3	37	c.240C>T	CCDS30813.1																																																																																				0.557	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		6	41	0	0	0	0	6	41				
CHD1L	9557	broad.mit.edu	37	1	146739091	146739091	+	Missense_Mutation	SNP	T	T	G	rs369279428		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:146739091T>G	ENST00000369258.4	+	9	922	c.902T>G	c.(901-903)tTt>tGt	p.F301C	CHD1L_ENST00000431239.1_Missense_Mutation_p.F301C|CHD1L_ENST00000369259.3_Missense_Mutation_p.F97C|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000361293.5_Missense_Mutation_p.F20C	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	301					ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)	p.F301C(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					TCAGATGCATTTGAAAATGAG	0.368																																						uc001epm.3		NA																	1	Substitution - Missense(1)	p.F301C(1)	upper_aerodigestive_tract(1)	ovary(3)|lung(2)|upper_aerodigestive_tract(1)	6						c.(901-903)TTT>TGT		chromodomain helicase DNA binding protein							77.0	72.0	73.0					1																	146739091		2203	4300	6503	SO:0001583	missense	9557				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr1:146739091T>G	AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.902T>G	1.37:g.146739091T>G	ENSP00000358262:p.Phe301Cys					uc001epp.2_Intron|CHD1L_uc001epn.3_Missense_Mutation_p.F188C|CHD1L_uc010ozo.1_RNA|CHD1L_uc009wjg.2_RNA|CHD1L_uc009wjh.2_Missense_Mutation_p.F301C|CHD1L_uc010ozp.1_Missense_Mutation_p.F20C|CHD1L_uc001epo.3_Missense_Mutation_p.F97C|CHD1L_uc010ozq.1_Translation_Start_Site|CHD1L_uc009wji.2_Missense_Mutation_p.F20C	p.F301C	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN			9	965	+	all_hematologic(923;0.0487)		301					A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Missense_Mutation	SNP	ENST00000369258.4	37	c.902T>G	CCDS927.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.030787	0.75504	.	.	ENSG00000131778	ENST00000431239;ENST00000369259;ENST00000369258;ENST00000436230;ENST00000361293	D;T;T;T	0.93426	-3.22;-1.01;-1.01;-1.01	5.64	5.64	0.86602	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.95290	0.8472	M	0.73372	2.23	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.997	D	0.95968	0.8967	10	0.87932	D	0	.	12.252	0.54603	0.0:0.0:0.0:1.0	.	301;97;301	Q86WJ1-2;Q86WJ1-3;Q86WJ1	.;.;CHD1L_HUMAN	C	301;97;301;201;20	ENSP00000389031:F301C;ENSP00000358263:F97C;ENSP00000358262:F301C;ENSP00000355100:F20C	ENSP00000355100:F20C	F	+	2	0	CHD1L	145205715	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	6.885000	0.75606	2.137000	0.66172	0.528000	0.53228	TTT		0.368	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	NM_004284		9	28	0	0	0	0	9	28				
HRNR	388697	broad.mit.edu	37	1	152188024	152188024	+	Silent	SNP	C	C	T	rs142170860		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:152188024C>T	ENST00000368801.2	-	3	6156	c.6081G>A	c.(6079-6081)tcG>tcA	p.S2027S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2027					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.S2027S(2)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCACAGCTCGATGACTGTC	0.562													C|||	1	0.000199681	0.0008	0.0	5008	,	,		49156	0.0		0.0	False		,,,				2504	0.0					uc001ezt.1		NA																	2	Substitution - coding silent(2)		lung(1)|kidney(1)	skin(2)|ovary(1)	3						c.(6079-6081)TCG>TCA		hornerin		C		0,4316		0,0,2158	348.0	495.0	444.0		6081	-6.8	0.0	1	dbSNP_134	444	1,8323		0,1,4161	no	coding-synonymous	HRNR	NM_001009931.1		0,1,6319	TT,TC,CC		0.012,0.0,0.0079		2027/2851	152188024	1,12639	2158	4162	6320	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152188024C>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6081G>A	1.37:g.152188024C>T							p.S2027S	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6157	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2027			22		Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.6081G>A	CCDS30859.1																																																																																				0.562	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		82	678	0	0	0	0	82	678				
APCS	325	broad.mit.edu	37	1	159558171	159558171	+	Silent	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:159558171G>C	ENST00000255040.2	+	2	442	c.345G>C	c.(343-345)gtG>gtC	p.V115V		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	115	Pentaxin.				acute-phase response (GO:0006953)|chaperone-mediated protein complex assembly (GO:0051131)|innate immune response (GO:0045087)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral process (GO:0048525)|negative regulation of wound healing (GO:0061045)|protein folding (GO:0006457)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|unfolded protein binding (GO:0051082)|virion binding (GO:0046790)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					ACATCTGTGTGAGCTGGGAGT	0.433																																						uc001ftv.2		NA																	0				ovary(1)|breast(1)	2						c.(343-345)GTG>GTC		serum amyloid P component precursor							75.0	76.0	76.0					1																	159558171		2203	4300	6503	SO:0001819	synonymous_variant	325				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding	g.chr1:159558171G>C		CCDS1186.1	1q21-q23	2012-10-02			ENSG00000132703	ENSG00000132703			584	protein-coding gene	gene with protein product	"""pentaxin-related"", ""9.5S alpha-1-glycoprotein"""	104770				2987268	Standard	NM_001639		Approved	SAP, PTX2, MGC88159	uc001ftv.3	P02743	OTTHUMG00000022741	ENST00000255040.2:c.345G>C	1.37:g.159558171G>C							p.V115V	NM_001639	NP_001630	P02743	SAMP_HUMAN			2	441	+	all_hematologic(112;0.0429)		115			Pentaxin.			Silent	SNP	ENST00000255040.2	37	c.345G>C	CCDS1186.1																																																																																				0.433	APCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059024.2	NM_001639		12	55	0	0	0	0	12	55				
ITLN1	55600	broad.mit.edu	37	1	160850996	160850996	+	Missense_Mutation	SNP	G	G	T	rs370631307		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:160850996G>T	ENST00000326245.3	-	5	627	c.512C>A	c.(511-513)aCg>aAg	p.T171K	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	171	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				positive regulation of glucose import (GO:0046326)|positive regulation of protein phosphorylation (GO:0001934)|response to nematode (GO:0009624)	anchored component of membrane (GO:0031225)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)	p.T171K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GCCAGTGTCCGTGCGGTACCT	0.562																																						uc001fxc.2		NA																	1	Substitution - Missense(1)	p.T171T(1)|p.T171K(1)	upper_aerodigestive_tract(1)	ovary(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)	7						c.(511-513)ACG>AAG		intelectin precursor							178.0	149.0	159.0					1																	160850996		2203	4300	6503	SO:0001583	missense	55600				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding	g.chr1:160850996G>T	AB036706	CCDS1211.1	1q21.3	2008-02-05			ENSG00000179914	ENSG00000179914			18259	protein-coding gene	gene with protein product		609873				11313366, 11181563	Standard	NM_017625		Approved	ITLN, FLJ20022, LFR, HL-1, hIntL	uc001fxc.3	Q8WWA0	OTTHUMG00000028604	ENST00000326245.3:c.512C>A	1.37:g.160850996G>T	ENSP00000323587:p.Thr171Lys						p.T171K	NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		5	628	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		171			Fibrinogen C-terminal.		Q5IWS4|Q5VYI4|Q6YDJ3|Q9NP67	Missense_Mutation	SNP	ENST00000326245.3	37	c.512C>A	CCDS1211.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672675	0.47781	.	.	ENSG00000179914	ENST00000326245	T	0.55588	0.51	4.02	4.02	0.46733	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	0.000000	0.64402	D	0.000003	T	0.73241	0.3562	M	0.92219	3.285	0.53005	D	0.999966	D	0.89917	1.0	D	0.97110	1.0	T	0.80854	-0.1196	10	0.87932	D	0	-14.9277	13.6628	0.62376	0.0:0.0:1.0:0.0	.	171	Q8WWA0	ITLN1_HUMAN	K	171	ENSP00000323587:T171K	ENSP00000323587:T171K	T	-	2	0	ITLN1	159117620	1.000000	0.71417	0.515000	0.27774	0.026000	0.11368	4.676000	0.61627	2.049000	0.60858	0.655000	0.94253	ACG		0.562	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071462.1	NM_017625		30	92	1	0	1.31e-18	1.49e-18	30	92				
NUF2	83540	broad.mit.edu	37	1	163325191	163325191	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:163325191G>T	ENST00000271452.3	+	14	1606	c.1327G>T	c.(1327-1329)Gac>Tac	p.D443Y	NUF2_ENST00000367900.3_Missense_Mutation_p.D443Y|NUF2_ENST00000524800.1_Missense_Mutation_p.D396Y	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	443	Interaction with the C-terminus of NDC80 and the SPBC24-SPBC25 subcomplex.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					GGCAGCAGAGGACTCCTATGC	0.338																																						uc001gcq.1		NA																	0				ovary(3)|skin(1)	4						c.(1327-1329)GAC>TAC		NUF2, NDC80 kinetochore complex component							86.0	89.0	88.0					1																	163325191		2203	4300	6503	SO:0001583	missense	83540				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	g.chr1:163325191G>T	BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"""cancer/testis antigen 106"""	611772	"""cell division cycle associated 1"", ""NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.1327G>T	1.37:g.163325191G>T	ENSP00000271452:p.Asp443Tyr					NUF2_uc001gcr.1_Missense_Mutation_p.D443Y|NUF2_uc009wvc.1_Missense_Mutation_p.D396Y	p.D443Y	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN			14	1627	+	all_hematologic(923;0.101)		443			Interaction with the C-terminus of NDC80 and the SPBC24-SPBC25 subcomplex.|Potential.		Q8WU69|Q96HJ4|Q96Q78	Missense_Mutation	SNP	ENST00000271452.3	37	c.1327G>T	CCDS1245.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.428029	0.62733	.	.	ENSG00000143228	ENST00000524800;ENST00000367900;ENST00000271452	T;T;T	0.34667	1.35;1.47;1.47	4.87	2.81	0.32909	.	0.707775	0.14427	N	0.320267	T	0.07098	0.0180	N	0.08118	0	0.32225	N	0.574662	B;P	0.34462	0.187;0.454	B;B	0.30855	0.054;0.121	T	0.10314	-1.0635	9	0.66056	D	0.02	-3.6432	4.9178	0.13854	0.181:0.1866:0.6324:0.0	.	396;443	E9PQC4;Q9BZD4	.;NUF2_HUMAN	Y	396;443;443	ENSP00000436888:D396Y;ENSP00000356875:D443Y;ENSP00000271452:D443Y	ENSP00000271452:D443Y	D	+	1	0	NUF2	161591815	0.979000	0.34478	0.981000	0.43875	0.967000	0.64934	1.973000	0.40550	2.245000	0.73994	0.591000	0.81541	GAC		0.338	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	NM_145697		9	25	1	0	0.000442599	0.000473678	9	25				
ZC3H11A	9877	broad.mit.edu	37	1	203821425	203821425	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:203821425A>G	ENST00000545588.1	+	17	6158	c.2331A>G	c.(2329-2331)atA>atG	p.I777M	ZC3H11A_ENST00000367212.3_Missense_Mutation_p.I777M|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.I777M|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.I777M|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.I777M	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	777					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AGAAACTAATATGGGAGATTT	0.468																																						uc001hac.2		NA																	0				lung(1)|central_nervous_system(1)	2						c.(2329-2331)ATA>ATG		zinc finger CCCH-type containing 11A							55.0	57.0	56.0					1																	203821425		2203	4300	6503	SO:0001583	missense	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203821425A>G		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.2331A>G	1.37:g.203821425A>G	ENSP00000438527:p.Ile777Met					ZC3H11A_uc001had.2_Missense_Mutation_p.I777M|ZC3H11A_uc001hae.2_Missense_Mutation_p.I777M|ZC3H11A_uc001haf.2_Missense_Mutation_p.I777M|ZC3H11A_uc010pqm.1_Missense_Mutation_p.I723M	p.I777M	NM_014827	NP_055642	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		20	2947	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		777					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	ENST00000545588.1	37	c.2331A>G	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	A	9.655	1.142628	0.21205	.	.	ENSG00000058673	ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33	5.69	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.55065	0.1897	M	0.77103	2.36	0.41155	D	0.986059	B	0.30068	0.267	B	0.32583	0.148	T	0.57969	-0.7719	10	0.38643	T	0.18	-25.6355	6.0902	0.19991	0.6054:0.3015:0.0932:0.0	.	777	O75152	ZC11A_HUMAN	M	777;723;777;777;777;777	ENSP00000356183:I777M;ENSP00000356181:I777M;ENSP00000333253:I777M;ENSP00000438527:I777M;ENSP00000356179:I777M	ENSP00000333253:I777M	I	+	3	3	ZC3H11A	202088048	0.996000	0.38824	1.000000	0.80357	0.766000	0.43426	0.352000	0.20113	2.171000	0.68590	0.528000	0.53228	ATA		0.468	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		17	42	0	0	0	0	17	42				
MARK1	4139	broad.mit.edu	37	1	220804398	220804398	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:220804398A>T	ENST00000366917.4	+	10	1197	c.931A>T	c.(931-933)Atg>Ttg	p.M311L	HDAC1P2_ENST00000602936.1_RNA|MARK1_ENST00000402574.1_Missense_Mutation_p.M176L|MARK1_ENST00000366918.4_Missense_Mutation_p.M289L					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AGATCGATGGATGAATGTTGG	0.338																																						uc001hmn.3		NA																	0				ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10						c.(931-933)ATG>TTG		MAP/microtubule affinity-regulating kinase 1							115.0	112.0	113.0					1																	220804398		2203	4300	6503	SO:0001583	missense	4139				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:220804398A>T	AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.931A>T	1.37:g.220804398A>T	ENSP00000355884:p.Met311Leu					MARK1_uc009xdw.2_Missense_Mutation_p.M311L|MARK1_uc010pun.1_Missense_Mutation_p.M311L|MARK1_uc001hmm.3_Missense_Mutation_p.M289L	p.M311L	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN		GBM - Glioblastoma multiforme(131;0.0407)	10	1528	+			311			Protein kinase.			Missense_Mutation	SNP	ENST00000366917.4	37	c.931A>T	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	A	20.7	4.028323	0.75390	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.61859	0.07;0.07;0.07	5.78	5.78	0.91487	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	0.39118	0.1066	N	0.01219	-0.95	0.80722	D	1	B;B;B;B	0.26672	0.012;0.01;0.156;0.041	B;B;B;B	0.38296	0.044;0.026;0.27;0.168	T	0.52185	-0.8609	10	0.59425	D	0.04	.	16.3979	0.83621	1.0:0.0:0.0:0.0	.	311;176;311;289	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	L	176;289;311	ENSP00000386017:M176L;ENSP00000355885:M289L;ENSP00000355884:M311L	ENSP00000355884:M311L	M	+	1	0	MARK1	218871021	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.059000	0.93902	2.333000	0.79357	0.533000	0.62120	ATG		0.338	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1			7	22	0	0	0	0	7	22				
TARBP1	6894	broad.mit.edu	37	1	234596074	234596074	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:234596074G>T	ENST00000040877.1	-	7	1467	c.1468C>A	c.(1468-1470)Cta>Ata	p.L490I		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	490					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GCCTTAGATAGAAACAAAATG	0.378																																						uc001hwd.2		NA																	0				ovary(2)|skin(1)	3						c.(1468-1470)CTA>ATA		TAR RNA binding protein 1							103.0	99.0	100.0					1																	234596074		2203	4300	6503	SO:0001583	missense	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234596074G>T		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.1468C>A	1.37:g.234596074G>T	ENSP00000040877:p.Leu490Ile						p.L490I	NM_005646	NP_005637	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		7	1468	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	490					Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	c.1468C>A	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.942673	0.53079	.	.	ENSG00000059588	ENST00000040877	T	0.07216	3.21	5.53	1.24	0.21308	.	0.315235	0.30732	N	0.009000	T	0.12263	0.0298	M	0.69823	2.125	0.37671	D	0.923146	D	0.58620	0.983	P	0.51016	0.656	T	0.25916	-1.0118	10	0.25106	T	0.35	-28.6372	3.7996	0.08753	0.2996:0.0:0.4347:0.2657	.	490	Q13395	TARB1_HUMAN	I	490	ENSP00000040877:L490I	ENSP00000040877:L490I	L	-	1	2	TARBP1	232662697	0.998000	0.40836	0.935000	0.37517	0.985000	0.73830	0.541000	0.23207	0.288000	0.22398	-0.377000	0.06932	CTA		0.378	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		12	36	1	0	6.32e-08	6.98e-08	12	36				
OR11L1	391189	broad.mit.edu	37	1	248004351	248004352	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:248004351_248004352GG>TT	ENST00000355784.2	-	1	902_903	c.847_848CC>AA	c.(847-849)CCa>AAa	p.P283K		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	283						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GTTCAGCAGTGGTGTGACCACA	0.441																																						uc001idn.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(847-849)CCA>AAA		olfactory receptor, family 11, subfamily L,																																				SO:0001583	missense	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004351_248004352GG>TT	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.847_848delinsTT	1.37:g.248004351_248004352delinsTT	ENSP00000348033:p.Pro283Lys						p.P283K	NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	847_848	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		283			Helical; Name=7; (Potential).			Missense_Mutation	DNP	ENST00000355784.2	37	c.847_848CC>AA	CCDS31098.1																																																																																				0.441	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		17	59	0	0	0	0	17	59				
OR2M5	127059	broad.mit.edu	37	1	248309150	248309150	+	Missense_Mutation	SNP	G	G	A	rs147580819		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:248309150G>A	ENST00000366476.1	+	1	701	c.701G>A	c.(700-702)cGt>cAt	p.R234H		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GGAGAGGGTCGTCGCAAAGCT	0.463													g|||	1	0.000199681	0.0	0.0	5008	,	,		21867	0.0		0.001	False		,,,				2504	0.0					uc010pze.1		NA																	0				ovary(2)|kidney(1)	3						c.(700-702)CGT>CAT		olfactory receptor, family 2, subfamily M,		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	259.0	244.0	249.0		701	1.3	0.0	1	dbSNP_134	249	0,8600		0,0,4300	no	missense	OR2M5	NM_001004690.1	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	234/313	248309150	1,13005	2203	4300	6503	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248309150G>A		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.701G>A	1.37:g.248309150G>A	ENSP00000355432:p.Arg234His						p.R234H	NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	701	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		234			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000366476.1	37	c.701G>A	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	g	9.703	1.154991	0.21371	2.27E-4	0.0	ENSG00000162727	ENST00000366476	T	0.00333	8.07	3.28	1.33	0.21861	GPCR, rhodopsin-like superfamily (1);	1.008340	0.08001	N	0.988776	T	0.00412	0.0013	M	0.83483	2.645	0.09310	N	1	B	0.15473	0.013	B	0.12837	0.008	T	0.42189	-0.9466	10	0.72032	D	0.01	.	8.818	0.35007	0.1975:0.0:0.8025:0.0	.	234	A3KFT3	OR2M5_HUMAN	H	234	ENSP00000355432:R234H	ENSP00000355432:R234H	R	+	2	0	OR2M5	246375773	0.000000	0.05858	0.000000	0.03702	0.702000	0.40608	0.556000	0.23438	0.062000	0.16340	-0.326000	0.08463	CGT		0.463	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		73	182	0	0	0	0	73	182				
SFMBT2	57713	broad.mit.edu	37	10	7214579	7214579	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr10:7214579C>T	ENST00000361972.4	-	18	2119	c.2029G>A	c.(2029-2031)Ggg>Agg	p.G677R	SFMBT2_ENST00000397167.1_Missense_Mutation_p.G677R	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	677					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.G677R(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TTGCTTTCCCCGATGGGGGGC	0.517																																						uc009xio.1		NA																	1	Substitution - Missense(1)	p.G677R(1)	upper_aerodigestive_tract(1)	ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						c.(2029-2031)GGG>AGG		Scm-like with four mbt domains 2							48.0	57.0	54.0					10																	7214579		2203	4300	6503	SO:0001583	missense	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7214579C>T	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.2029G>A	10.37:g.7214579C>T	ENSP00000355109:p.Gly677Arg					SFMBT2_uc001ijn.1_Missense_Mutation_p.G677R|SFMBT2_uc010qay.1_Missense_Mutation_p.G512R	p.G677R	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN			18	2120	-			677					A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	c.2029G>A	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.253697	0.39797	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.19394	2.15;2.15	5.37	4.45	0.53987	.	0.149706	0.64402	N	0.000013	T	0.16642	0.0400	L	0.41961	1.31	0.80722	D	1	B	0.28850	0.225	B	0.20184	0.028	T	0.04664	-1.0935	10	0.25106	T	0.35	.	11.3494	0.49579	0.0:0.8489:0.0:0.1511	.	677	Q5VUG0	SMBT2_HUMAN	R	677	ENSP00000355109:G677R;ENSP00000380353:G677R	ENSP00000355109:G677R	G	-	1	0	SFMBT2	7254585	0.995000	0.38212	0.552000	0.28243	0.378000	0.30076	3.423000	0.52756	1.228000	0.43614	0.484000	0.47621	GGG		0.517	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		23	52	0	0	0	0	23	52				
IPMK	253430	broad.mit.edu	37	10	59976032	59976032	+	Silent	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr10:59976032G>A	ENST00000373935.3	-	4	742	c.420C>T	c.(418-420)ccC>ccT	p.P140P		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	140	Substrate binding. {ECO:0000250}.				inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|neural tube formation (GO:0001841)|small molecule metabolic process (GO:0044281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol tetrakisphosphate 3-kinase activity (GO:0000824)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)|inositol-1,4,5-trisphosphate 6-kinase activity (GO:0000823)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						CCATTATACAGGGCTTATTAA	0.328																																						uc001jkb.2		NA																	0				ovary(1)	1						c.(418-420)CCC>CCT		inositol polyphosphate multikinase							81.0	74.0	76.0					10																	59976032		2203	4300	6503	SO:0001819	synonymous_variant	253430					nucleus	ATP binding|inositol trisphosphate 6-kinase activity	g.chr10:59976032G>A	AF432853	CCDS7250.1	10q21.1	2010-11-29		2004-07-22	ENSG00000151151	ENSG00000151151			20739	protein-coding gene	gene with protein product		609851				12223481, 12027805	Standard	NM_152230		Approved		uc001jkb.3	Q8NFU5	OTTHUMG00000018268	ENST00000373935.3:c.420C>T	10.37:g.59976032G>A							p.P140P	NM_152230	NP_689416	Q8NFU5	IPMK_HUMAN			4	743	-			140			Substrate binding (By similarity).			Silent	SNP	ENST00000373935.3	37	c.420C>T	CCDS7250.1																																																																																				0.328	IPMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048142.1	NM_152230		9	38	0	0	0	0	9	38				
SGPL1	8879	broad.mit.edu	37	10	72631612	72631612	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr10:72631612A>G	ENST00000373202.3	+	11	1128	c.928A>G	c.(928-930)Ata>Gta	p.I310V		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	310					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|ceramide metabolic process (GO:0006672)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|fatty acid metabolic process (GO:0006631)|fibroblast migration (GO:0010761)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|regulation of multicellular organism growth (GO:0040014)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid catabolic process (GO:0030149)|sphingolipid metabolic process (GO:0006665)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)|sphinganine-1-phosphate aldolase activity (GO:0008117)			large_intestine(4)	4						CAAATACAAAATACCCCTTCA	0.433																																					Colon(151;1054 2458 6676 40971)	uc001jrm.2		NA																	0					0						c.(928-930)ATA>GTA		sphingosine-1-phosphate lyase 1	Pyridoxal Phosphate(DB00114)						138.0	130.0	133.0					10																	72631612		2203	4300	6503	SO:0001583	missense	8879				apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity	g.chr10:72631612A>G	AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224			10817	protein-coding gene	gene with protein product		603729				9464245, 17090686	Standard	NM_003901		Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.928A>G	10.37:g.72631612A>G	ENSP00000362298:p.Ile310Val					SGPL1_uc009xqk.2_RNA	p.I310V	NM_003901	NP_003892	O95470	SGPL1_HUMAN			11	1150	+			310			Cytoplasmic (Potential).		B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Missense_Mutation	SNP	ENST00000373202.3	37	c.928A>G	CCDS31216.1	.	.	.	.	.	.	.	.	.	.	A	14.71	2.616129	0.46631	.	.	ENSG00000166224	ENST00000373202	T	0.38401	1.14	6.17	2.58	0.30949	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.175269	0.64402	N	0.000010	T	0.32852	0.0843	L	0.58510	1.815	0.53688	D	0.999971	B	0.23854	0.092	B	0.33339	0.162	T	0.06972	-1.0797	10	0.28530	T	0.3	-16.2561	6.0908	0.19993	0.6814:0.1239:0.1946:0.0	.	310	O95470	SGPL1_HUMAN	V	310	ENSP00000362298:I310V	ENSP00000362298:I310V	I	+	1	0	SGPL1	72301618	1.000000	0.71417	1.000000	0.80357	0.531000	0.34715	3.466000	0.53071	0.571000	0.29365	-0.250000	0.11733	ATA		0.433	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048533.1	NM_003901		19	68	0	0	0	0	19	68				
DLG5	9231	broad.mit.edu	37	10	79576322	79576322	+	Missense_Mutation	SNP	G	G	A	rs199899533		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr10:79576322G>A	ENST00000372391.2	-	20	4017	c.4012C>T	c.(4012-4014)Cgg>Tgg	p.R1338W	DLG5_ENST00000372388.2_Missense_Mutation_p.R998W|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1338					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TCCTTTCTCCGCTCCCCGAGG	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		21109	0.001		0.0	False		,,,				2504	0.0					uc001jzk.2		NA																	0				ovary(5)|breast(3)	8						c.(4012-4014)CGG>TGG		discs large homolog 5							160.0	136.0	144.0					10																	79576322		2203	4300	6503	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79576322G>A	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.4012C>T	10.37:g.79576322G>A	ENSP00000361467:p.Arg1338Trp					DLG5_uc001jzi.2_Missense_Mutation_p.R93W|DLG5_uc001jzj.2_Missense_Mutation_p.R753W|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Missense_Mutation_p.R942W	p.R1338W	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		20	4082	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		1338					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.4012C>T	CCDS7353.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.12	3.033435	0.54896	.	.	ENSG00000151208	ENST00000372391;ENST00000424842;ENST00000372388	T;T;T	0.52754	0.65;0.65;0.65	5.8	2.91	0.33838	PDZ/DHR/GLGF (1);	0.000000	0.35870	N	0.002921	T	0.39759	0.1090	L	0.46157	1.445	0.36796	D	0.885101	B;B;B	0.23490	0.007;0.001;0.086	B;B;B	0.22601	0.003;0.001;0.04	T	0.40136	-0.9579	10	0.87932	D	0	.	9.834	0.40958	0.0909:0.0:0.7844:0.1246	.	1228;1338;998	Q8TDM6-4;Q8TDM6;Q8TDM6-2	.;DLG5_HUMAN;.	W	1338;299;998	ENSP00000361467:R1338W;ENSP00000394797:R299W;ENSP00000361464:R998W	ENSP00000361464:R998W	R	-	1	2	DLG5	79246328	1.000000	0.71417	0.037000	0.18230	0.933000	0.57130	3.553000	0.53713	0.352000	0.24053	0.655000	0.94253	CGG		0.637	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			10	64	0	0	0	0	10	64				
BTAF1	9044	broad.mit.edu	37	10	93740247	93740247	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr10:93740247A>T	ENST00000265990.6	+	15	1995	c.1687A>T	c.(1687-1689)Atg>Ttg	p.M563L	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	563					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				ACTGCCTGATATGCTCCGACA	0.373																																						uc001khr.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1687-1689)ATG>TTG		BTAF1 RNA polymerase II, B-TFIID transcription							128.0	114.0	119.0					10																	93740247		2203	4300	6503	SO:0001583	missense	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93740247A>T	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.1687A>T	10.37:g.93740247A>T	ENSP00000265990:p.Met563Leu					BTAF1_uc001khs.1_Missense_Mutation_p.M233L|BTAF1_uc001kht.1_Missense_Mutation_p.M1L	p.M563L	NM_003972	NP_003963	O14981	BTAF1_HUMAN			15	1785	+		Colorectal(252;0.0846)	563			HEAT 4.		B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	c.1687A>T	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	A	15.51	2.853723	0.51270	.	.	ENSG00000095564	ENST00000265990	T	0.61392	0.11	5.51	5.51	0.81932	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.40862	0.1134	N	0.17872	0.535	0.80722	D	1	B;B	0.11235	0.004;0.004	B;B	0.06405	0.002;0.002	T	0.29761	-1.0001	10	0.10902	T	0.67	-0.0302	14.6025	0.68450	1.0:0.0:0.0:0.0	.	563;563	Q2M1V9;O14981	.;BTAF1_HUMAN	L	563	ENSP00000265990:M563L	ENSP00000265990:M563L	M	+	1	0	BTAF1	93730227	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.916000	0.92745	2.095000	0.63458	0.377000	0.23210	ATG		0.373	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		11	45	0	0	0	0	11	45				
PDE6C	5146	broad.mit.edu	37	10	95399902	95399902	+	Missense_Mutation	SNP	G	G	A	rs267602621		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr10:95399902G>A	ENST00000371447.3	+	12	1696	c.1558G>A	c.(1558-1560)Gga>Aga	p.G520R		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	520					phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	TACAGAGCACGGATTGATTAA	0.403																																						uc001kiu.3		NA																	0				ovary(2)|kidney(1)|skin(1)	4						c.(1558-1560)GGA>AGA		phosphodiesterase 6C							124.0	116.0	119.0					10																	95399902		2203	4300	6503	SO:0001583	missense	5146				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	g.chr10:95399902G>A	U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"""Phosphodiesterases"""	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.1558G>A	10.37:g.95399902G>A	ENSP00000360502:p.Gly520Arg						p.G520R	NM_006204	NP_006195	P51160	PDE6C_HUMAN			12	1696	+		Colorectal(252;0.123)	520					A6NCR6|Q5VY29	Missense_Mutation	SNP	ENST00000371447.3	37	c.1558G>A	CCDS7429.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.529579	0.27387	.	.	ENSG00000095464	ENST00000371447	T	0.76709	-1.04	4.99	4.08	0.47627	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.699109	0.14576	N	0.311175	T	0.67144	0.2862	L	0.43152	1.355	0.23673	N	0.997149	P	0.42337	0.776	B	0.29785	0.107	T	0.61662	-0.7017	10	0.72032	D	0.01	.	13.219	0.59877	0.0762:0.0:0.9238:0.0	.	520	P51160	PDE6C_HUMAN	R	520	ENSP00000360502:G520R	ENSP00000360502:G520R	G	+	1	0	PDE6C	95389892	0.982000	0.34865	0.075000	0.20258	0.069000	0.16628	6.199000	0.72112	1.334000	0.45468	0.563000	0.77884	GGA		0.403	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1	NM_006204		30	71	0	0	0	0	30	71				
IKZF5	64376	broad.mit.edu	37	10	124758050	124758050	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr10:124758050C>G	ENST00000368886.5	-	3	412	c.92G>C	c.(91-93)gGa>gCa	p.G31A	IKZF5_ENST00000479103.1_5'UTR	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	31					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		ACTAACTGATCCAGAAATCAT	0.403																																						uc001lha.2		NA																	0					0						c.(91-93)GGA>GCA		zinc finger protein, subfamily 1A, 5							119.0	114.0	116.0					10																	124758050		1893	4112	6005	SO:0001583	missense	64376				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:124758050C>G	AF230808	CCDS41574.1	10q26	2011-05-31	2006-08-25	2006-08-25	ENSG00000095574	ENSG00000095574		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	14283	protein-coding gene	gene with protein product		606238	"""zinc finger protein, subfamily 1A, 5"", ""zinc finger protein, subfamily 1A, 5 (Pegasus)"""	ZNFN1A5		10978333	Standard	NM_001271840		Approved	Pegasus, FLJ22973	uc021qaj.2	Q9H5V7	OTTHUMG00000019192	ENST00000368886.5:c.92G>C	10.37:g.124758050C>G	ENSP00000357881:p.Gly31Ala						p.G31A	NM_022466	NP_071911	Q9H5V7	IKZF5_HUMAN		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)	3	391	-		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)	31					B3KVH7|D3DRE7|Q9H2T0	Missense_Mutation	SNP	ENST00000368886.5	37	c.92G>C	CCDS41574.1	.	.	.	.	.	.	.	.	.	.	C	34	5.348972	0.95807	.	.	ENSG00000095574	ENST00000368886	T	0.06068	3.35	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.17109	0.0411	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.05533	-1.0879	10	0.23302	T	0.38	-23.5462	20.8794	0.99867	0.0:1.0:0.0:0.0	.	31	Q9H5V7	IKZF5_HUMAN	A	31	ENSP00000357881:G31A	ENSP00000357881:G31A	G	-	2	0	IKZF5	124748040	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.411000	0.80078	2.941000	0.99782	0.655000	0.94253	GGA		0.403	IKZF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050820.2	NM_022466		19	61	0	0	0	0	19	61				
RIC8A	60626	broad.mit.edu	37	11	209939	209939	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:209939T>C	ENST00000526104.1	+	3	2009	c.665T>C	c.(664-666)aTg>aCg	p.M222T	BET1L_ENST00000325147.9_5'Flank|BET1L_ENST00000529614.2_5'Flank|RIC8A_ENST00000527696.1_Missense_Mutation_p.M216T|BET1L_ENST00000410108.1_5'Flank|BET1L_ENST00000332865.6_5'Flank|BET1L_ENST00000486280.1_5'Flank|RIC8A_ENST00000325207.5_Missense_Mutation_p.M222T|BET1L_ENST00000382762.3_5'Flank			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	222					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGCGGGCCATGGAGATCCTC	0.587																																						uc001log.2		NA																	0					0						c.(664-666)ATG>ACG		resistance to inhibitors of cholinesterase 8							51.0	49.0	50.0					11																	209939		2203	4299	6502	SO:0001583	missense	60626					cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr11:209939T>C	AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"""resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"""			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069	ENST00000526104.1:c.665T>C	11.37:g.209939T>C	ENSP00000432008:p.Met222Thr					BET1L_uc001loe.2_5'Flank|BET1L_uc001lod.2_5'Flank|RIC8A_uc001lof.2_Missense_Mutation_p.M222T|RIC8A_uc001loh.2_Missense_Mutation_p.M215T	p.M222T	NM_021932	NP_068751	Q9NPQ8	RIC8A_HUMAN		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)	3	990	+		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	222					Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Missense_Mutation	SNP	ENST00000526104.1	37	c.665T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.42|16.42	3.118141|3.118141	0.56505|0.56505	.|.	.|.	ENSG00000177963|ENSG00000177963	ENST00000526104;ENST00000325207;ENST00000527696|ENST00000527728	T;T;T|.	0.47528|.	0.84;0.84;0.84|.	4.28|4.28	4.28|4.28	0.50868|0.50868	Armadillo-type fold (1);|.	0.041779|.	0.85682|.	D|.	0.000000|.	T|T	0.61578|0.61578	0.2358|0.2358	L|L	0.50919|0.50919	1.6|1.6	0.80722|0.80722	D|D	1|1	B;D;D|.	0.63880|.	0.335;0.993;0.991|.	B;P;P|.	0.61275|.	0.122;0.886;0.862|.	T|T	0.60177|0.60177	-0.7314|-0.7314	10|5	0.13108|.	T|.	0.6|.	-44.6361|-44.6361	13.2843|13.2843	0.60235|0.60235	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	216;222;222|.	Q9NPQ8-2;Q9NPQ8;Q9NPQ8-3|.	.;RIC8A_HUMAN;.|.	T|R	222;222;216|104	ENSP00000432008:M222T;ENSP00000325941:M222T;ENSP00000434833:M216T|.	ENSP00000325941:M222T|.	M|W	+|+	2|1	0|0	RIC8A|RIC8A	199939|199939	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	7.609000|7.609000	0.82925|0.82925	1.875000|1.875000	0.54330|0.54330	0.459000|0.459000	0.35465|0.35465	ATG|TGG		0.587	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000384761.1	NM_021932		7	33	0	0	0	0	7	33				
OR52A1	23538	broad.mit.edu	37	11	5173296	5173296	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:5173296G>A	ENST00000380367.1	-	2	721	c.304C>T	c.(304-306)Caa>Taa	p.Q102*	OR52A1_ENST00000328942.1_Nonsense_Mutation_p.Q102*			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	102					sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACCACATTTGAAGCAAGCAG	0.458																																						uc010qyy.1		NA																	0				ovary(1)|breast(1)	2						c.(304-306)CAA>TAA		olfactory receptor, family 52, subfamily A,							79.0	62.0	68.0					11																	5173296		2201	4297	6498	SO:0001587	stop_gained	23538				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr11:5173296G>A	AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"""GPCR / Class A : Olfactory receptors"""	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.304C>T	11.37:g.5173296G>A	ENSP00000369725:p.Gln102*						p.Q102*	NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	304	-		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)	102			Helical; Name=3; (Potential).		Q6IF31	Nonsense_Mutation	SNP	ENST00000380367.1	37	c.304C>T	CCDS31374.1	.	.	.	.	.	.	.	.	.	.	G	40	8.190737	0.98699	.	.	ENSG00000182070	ENST00000380367;ENST00000328942	.	.	.	5.28	5.28	0.74379	.	0.000000	0.49916	D	0.000131	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.6458	0.88148	0.0:0.0:1.0:0.0	.	.	.	.	X	102	.	ENSP00000333684:Q102X	Q	-	1	0	OR52A1	5129872	1.000000	0.71417	0.977000	0.42913	0.854000	0.48673	9.376000	0.97181	2.750000	0.94351	0.591000	0.81541	CAA		0.458	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142810.2	NM_012375		8	23	0	0	0	0	8	23				
NLRP14	338323	broad.mit.edu	37	11	7064378	7064378	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:7064378C>A	ENST00000299481.4	+	4	1467	c.1121C>A	c.(1120-1122)gCc>gAc	p.A374D		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	374	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GTGTGCTGGGCCGCTTGTACT	0.453																																						uc001mfb.1		NA																	0				ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8						c.(1120-1122)GCC>GAC		NLR family, pyrin domain containing 14							134.0	132.0	133.0					11																	7064378		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7064378C>A	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.1121C>A	11.37:g.7064378C>A	ENSP00000299481:p.Ala374Asp						p.A374D	NM_176822	NP_789792	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	4	1444	+			374			NACHT.		Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.1121C>A	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	C	5.944	0.358116	0.11239	.	.	ENSG00000158077	ENST00000299481	D	0.84223	-1.82	4.69	0.954	0.19595	NACHT nucleoside triphosphatase (1);	1.898250	0.02483	N	0.088722	T	0.78233	0.4251	L	0.34521	1.04	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.61589	-0.7032	10	0.72032	D	0.01	.	3.9227	0.09250	0.1559:0.1865:0.0:0.6576	.	374	Q86W24	NAL14_HUMAN	D	374	ENSP00000299481:A374D	ENSP00000299481:A374D	A	+	2	0	NLRP14	7020954	0.005000	0.15991	0.000000	0.03702	0.003000	0.03518	1.434000	0.34958	0.058000	0.16222	-0.302000	0.09304	GCC		0.453	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		38	109	1	0	3.21e-22	3.68e-22	38	109				
SBF2	81846	broad.mit.edu	37	11	10215531	10215531	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:10215531G>A	ENST00000256190.8	-	2	196	c.59C>T	c.(58-60)tCa>tTa	p.S20L		NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	20	UDENN.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.S20L(1)		breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		ACCTTCTCCTGATCCTGTTAA	0.333																																						uc001mib.2		NA																	1	Substitution - Missense(1)	p.S20L(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(58-60)TCA>TTA		SET binding factor 2							95.0	90.0	92.0					11																	10215531		2201	4294	6495	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:10215531G>A	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.59C>T	11.37:g.10215531G>A	ENSP00000256190:p.Ser20Leu					SBF2_uc001mif.3_5'UTR	p.S20L	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	2	197	-			20			UDENN.		Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.59C>T	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654234	0.67472	.	.	ENSG00000133812	ENST00000256190	T	0.28069	1.63	5.79	5.79	0.91817	uDENN (3);	0.316889	0.26669	N	0.023102	T	0.36468	0.0968	L	0.56769	1.78	0.45183	D	0.99819	B	0.17667	0.023	B	0.31686	0.134	T	0.08289	-1.0729	9	.	.	.	.	16.9528	0.86250	0.0:0.0:1.0:0.0	.	20	Q86WG5	MTMRD_HUMAN	L	20	ENSP00000256190:S20L	.	S	-	2	0	SBF2	10172107	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.717000	0.84732	2.740000	0.93945	0.563000	0.77884	TCA		0.333	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		3	15	0	0	0	0	3	15				
NAV2	89797	broad.mit.edu	37	11	20136232	20136233	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:20136232_20136233CC>TT	ENST00000396087.3	+	40	7331_7332	c.7232_7233CC>TT	c.(7231-7233)cCC>cTT	p.P2411L	NAV2_ENST00000311043.8_Missense_Mutation_p.P1416L|NAV2_ENST00000360655.4_Missense_Mutation_p.P2288L|NAV2_ENST00000533917.1_Missense_Mutation_p.P1416L|NAV2_ENST00000349880.4_Missense_Mutation_p.P2352L|NAV2_ENST00000396085.1_Missense_Mutation_p.P2355L|NAV2_ENST00000540292.1_Missense_Mutation_p.P2342L|NAV2_ENST00000527559.2_Missense_Mutation_p.P2340L	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2411					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GAGTGGCCTCCCCTGCTGCAGT	0.614																																						uc001mpr.3		NA																	0				skin(4)|ovary(1)|pancreas(1)	6						c.(7063-7065)CCC>CTT		neuron navigator 2 isoform 1																																				SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20136232_20136233CC>TT	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	Exception_encountered	11.37:g.20136232_20136233delinsTT	ENSP00000379396:p.Pro2411Leu					NAV2_uc001mpp.2_Missense_Mutation_p.P2288L|NAV2_uc009yhx.2_Missense_Mutation_p.P1416L|NAV2_uc009yhz.2_Missense_Mutation_p.P997L|NAV2_uc001mpu.2_Missense_Mutation_p.P790L|NAV2_uc001mpv.2_Missense_Mutation_p.P114L	p.P2355L	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN			37	7425_7426	+			2411					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	DNP	ENST00000396087.3	37	c.7064_7065CC>TT	CCDS58126.1																																																																																				0.614	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		13	24	0	0	0	0	13	24				
C11orf74	119710	broad.mit.edu	37	11	36654876	36654876	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:36654876C>T	ENST00000334307.5	+	3	294	c.179C>T	c.(178-180)tCa>tTa	p.S60L	C11orf74_ENST00000446510.2_Missense_Mutation_p.S60L|C11orf74_ENST00000347206.4_Intron|C11orf74_ENST00000534635.1_Intron	NM_138787.2	NP_620142.2	Q86VG3	CK074_HUMAN	chromosome 11 open reading frame 74	60										breast(1)|kidney(1)|large_intestine(1)|lung(5)	8	all_lung(20;0.226)	all_hematologic(20;0.0118)				ACTGATTCTTCAGAAAACATT	0.338																																						uc001mwy.1		NA																	0					0						c.(178-180)TCA>TTA		hypothetical protein LOC119710							85.0	90.0	88.0					11																	36654876		2202	4295	6497	SO:0001583	missense	119710							g.chr11:36654876C>T	AK095997, BC009561	CCDS7904.1, CCDS60762.1	11p12	2012-08-10			ENSG00000166352	ENSG00000166352			25142	protein-coding gene	gene with protein product						12477932	Standard	NM_001276722		Approved	FLJ38678, HEPIS	uc031pzr.1	Q86VG3	OTTHUMG00000166397	ENST00000334307.5:c.179C>T	11.37:g.36654876C>T	ENSP00000334848:p.Ser60Leu					C11orf74_uc010rfd.1_RNA|C11orf74_uc001mww.1_Intron|C11orf74_uc001mwx.1_Intron|C11orf74_uc001mwz.1_Intron|C11orf74_uc010rfe.1_RNA	p.S60L	NM_138787	NP_620142	Q86VG3	CK074_HUMAN			3	252	+	all_lung(20;0.226)	all_hematologic(20;0.0118)	60					D3DR18|Q96DD6	Missense_Mutation	SNP	ENST00000334307.5	37	c.179C>T	CCDS7904.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.585197	0.46110	.	.	ENSG00000166352	ENST00000334307;ENST00000531554;ENST00000446510;ENST00000530697;ENST00000532470	.	.	.	5.1	4.19	0.49359	.	0.397472	0.21855	N	0.068119	T	0.51618	0.1685	M	0.73598	2.24	0.31181	N	0.702089	B	0.32800	0.385	B	0.33295	0.161	T	0.60596	-0.7232	9	0.49607	T	0.09	-2.1472	9.9254	0.41489	0.0:0.9047:0.0:0.0953	.	60	Q86VG3	CK074_HUMAN	L	60	.	ENSP00000334848:S60L	S	+	2	0	C11orf74	36611452	0.967000	0.33354	0.996000	0.52242	0.095000	0.18619	0.878000	0.28126	1.311000	0.45024	0.650000	0.86243	TCA		0.338	C11orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389567.1	NM_138787		8	34	0	0	0	0	8	34				
AHNAK	79026	broad.mit.edu	37	11	62285788	62285788	+	Silent	SNP	T	T	C	rs146188257	byFrequency	TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:62285788T>C	ENST00000378024.4	-	5	16375	c.16101A>G	c.(16099-16101)ggA>ggG	p.G5367G	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'Flank	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5367					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCAGGCTTGGTCCCCTCAGTG	0.547													T|||	2	0.000399361	0.0015	0.0	5008	,	,		19396	0.0		0.0	False		,,,				2504	0.0					uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(16099-16101)GGA>GGG		AHNAK nucleoprotein isoform 1		T	,	3,4401	6.2+/-15.9	0,3,2199	116.0	89.0	98.0		16101,	3.7	1.0	11	dbSNP_134	98	0,8598		0,0,4299	no	coding-synonymous,intron	AHNAK	NM_001620.1,NM_024060.2	,	0,3,6498	CC,CT,TT		0.0,0.0681,0.0231	,	5367/5891,	62285788	3,12999	2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62285788T>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.16101A>G	11.37:g.62285788T>C						AHNAK_uc001ntk.1_Intron	p.G5367G	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	16401	-		Melanoma(852;0.155)	5367					A1A586	Silent	SNP	ENST00000378024.4	37	c.16101A>G	CCDS31584.1																																																																																				0.547	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		21	70	0	0	0	0	21	70				
CTTN	2017	broad.mit.edu	37	11	70263146	70263146	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:70263146A>G	ENST00000301843.8	+	8	691	c.485A>G	c.(484-486)tAt>tGt	p.Y162C	CTTN_ENST00000376561.3_Missense_Mutation_p.Y162C|CTTN_ENST00000346329.3_Missense_Mutation_p.Y162C	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	162					negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GGCGGCAAGTATGGCGTGCAG	0.582																																						uc001opv.3		NA																	0				ovary(1)	1						c.(484-486)TAT>TGT		cortactin isoform a							135.0	120.0	125.0					11																	70263146		2200	4294	6494	SO:0001583	missense	2017					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	g.chr11:70263146A>G	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"""ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"""	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.485A>G	11.37:g.70263146A>G	ENSP00000301843:p.Tyr162Cys					CTTN_uc001opu.2_Missense_Mutation_p.Y162C|CTTN_uc001opw.3_Missense_Mutation_p.Y162C	p.Y162C	NM_005231	NP_005222	Q14247	SRC8_HUMAN	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	8	691	+			162			Cortactin 3.		Q8N707|Q96H99	Missense_Mutation	SNP	ENST00000301843.8	37	c.485A>G	CCDS41680.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.38|13.38	2.219362|2.219362	0.39201|0.39201	.|.	.|.	ENSG00000085733|ENSG00000085733	ENST00000415461|ENST00000346329;ENST00000301843;ENST00000376561	.|T;T;T	.|0.39787	.|1.19;1.17;1.06	5.43|5.43	1.56|1.56	0.23342|0.23342	.|.	.|0.182499	.|0.49305	.|D	.|0.000142	T|T	0.60753|0.60753	0.2293|0.2293	M|M	0.79475|0.79475	2.455|2.455	0.53005|0.53005	D|D	0.999965|0.999965	.|D;D;D	.|0.76494	.|0.997;0.989;0.999	.|D;D;D	.|0.74348	.|0.933;0.967;0.983	T|T	0.62872|0.62872	-0.6762|-0.6762	5|10	.|0.87932	.|D	.|0	-20.731|-20.731	10.7132|10.7132	0.45997|0.45997	0.506:0.0:0.0:0.494|0.506:0.0:0.0:0.494	.|.	.|162;162;162	.|Q96H99;Q14247;Q8N707	.|.;SRC8_HUMAN;.	V|C	144|162	.|ENSP00000317189:Y162C;ENSP00000301843:Y162C;ENSP00000365745:Y162C	.|ENSP00000301843:Y162C	M|Y	+|+	1|2	0|0	CTTN|CTTN	69940794|69940794	0.710000|0.710000	0.27896|0.27896	0.111000|0.111000	0.21465|0.21465	0.289000|0.289000	0.27227|0.27227	1.537000|1.537000	0.36083|0.36083	0.332000|0.332000	0.23536|0.23536	0.533000|0.533000	0.62120|0.62120	ATG|TAT		0.582	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	NM_138565		26	93	0	0	0	0	26	93				
CLPB	81570	broad.mit.edu	37	11	72013356	72013356	+	Nonsense_Mutation	SNP	G	G	A	rs200203460		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:72013356G>A	ENST00000294053.3	-	11	1422	c.1249C>T	c.(1249-1251)Cga>Tga	p.R417*	CLPB_ENST00000437826.2_Nonsense_Mutation_p.R372*|AP000593.7_ENST00000546065.1_RNA|CLPB_ENST00000543042.1_Nonsense_Mutation_p.R216*|CLPB_ENST00000340729.5_Nonsense_Mutation_p.R358*|CLPB_ENST00000538021.1_Nonsense_Mutation_p.R25*|CLPB_ENST00000538039.1_Nonsense_Mutation_p.R387*	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	417					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						ACCTCGTGTCGCTCCTGGAAC	0.522																																						uc001osj.2		NA																	0				pancreas(1)	1						c.(1249-1251)CGA>TGA		caseinolytic peptidase B							150.0	113.0	125.0					11																	72013356		2200	4293	6493	SO:0001587	stop_gained	81570				cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr11:72013356G>A	BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"""Ankyrin repeat domain containing"""	30664	protein-coding gene	gene with protein product	"""suppressor of potassium transport defect 3"""					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.1249C>T	11.37:g.72013356G>A	ENSP00000294053:p.Arg417*					CLPB_uc010rqx.1_Nonsense_Mutation_p.R372*|CLPB_uc010rqy.1_Nonsense_Mutation_p.R358*|CLPB_uc001osk.2_Nonsense_Mutation_p.R387*|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_Nonsense_Mutation_p.R216*|CLPB_uc001osi.2_Nonsense_Mutation_p.R25*	p.R417*	NM_030813	NP_110440	Q9H078	CLPB_HUMAN			11	1299	-			417					B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Nonsense_Mutation	SNP	ENST00000294053.3	37	c.1249C>T	CCDS8215.1	.	.	.	.	.	.	.	.	.	.	G	38	7.264557	0.98171	.	.	ENSG00000162129	ENST00000294053;ENST00000538039;ENST00000535990;ENST00000340729;ENST00000437826;ENST00000543042;ENST00000538021	.	.	.	5.95	4.98	0.66077	.	0.056299	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-10.7893	10.9114	0.47110	0.0:0.0:0.7366:0.2634	.	.	.	.	X	417;387;422;358;372;216;25	.	ENSP00000294053:R417X	R	-	1	2	CLPB	71691004	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.232000	0.65332	2.824000	0.97209	0.655000	0.94253	CGA		0.522	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396889.1	NM_030813		9	56	0	0	0	0	9	56				
C2CD3	26005	broad.mit.edu	37	11	73803532	73803532	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:73803532C>T	ENST00000334126.7	-	19	3672	c.3446G>A	c.(3445-3447)gGa>gAa	p.G1149E	C2CD3_ENST00000313663.7_Missense_Mutation_p.G1149E			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1149					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GGTCTGTATTCCCACATCCTC	0.423																																						uc001ouu.2		NA																	0				ovary(4)|pancreas(2)|skin(1)	7						c.(3445-3447)GGA>GAA		C2 calcium-dependent domain containing 3							166.0	147.0	153.0					11																	73803532		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73803532C>T	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.3446G>A	11.37:g.73803532C>T	ENSP00000334379:p.Gly1149Glu						p.G1149E	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN			19	3673	-	Breast(11;4.16e-06)		1149					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.3446G>A		.	.	.	.	.	.	.	.	.	.	C	10.60	1.395161	0.25205	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.08984	3.03;3.04	5.41	4.51	0.55191	.	0.058654	0.64402	D	0.000002	T	0.10766	0.0263	L	0.41079	1.255	0.30235	N	0.79555	D	0.55605	0.972	P	0.47075	0.536	T	0.02983	-1.1086	10	0.40728	T	0.16	-3.8839	12.1795	0.54204	0.0:0.9199:0.0:0.0801	.	1149	Q4AC94-1	.	E	1149	ENSP00000334379:G1149E;ENSP00000323339:G1149E	ENSP00000323339:G1149E	G	-	2	0	C2CD3	73481180	0.999000	0.42202	0.472000	0.27241	0.290000	0.27261	2.690000	0.47001	1.300000	0.44818	0.455000	0.32223	GGA		0.423	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		9	49	0	0	0	0	9	49				
PRKRIR	5612	broad.mit.edu	37	11	76063019	76063019	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:76063019T>A	ENST00000260045.3	-	5	1280	c.1175A>T	c.(1174-1176)cAt>cTt	p.H392L	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	392					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TGGTGATCGATGGAAAAAAGA	0.378																																						uc001oxh.1		NA																	0				ovary(2)|pancreas(1)	3						c.(1174-1176)CAT>CTT		protein-kinase, interferon-inducible double							44.0	43.0	43.0					11																	76063019		2197	4287	6484	SO:0001583	missense	5612				negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity	g.chr11:76063019T>A	AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"""THAP (C2CH-type zinc finger) domain containing"""	9440	protein-coding gene	gene with protein product	"""THAP domain containing 12"""	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.1175A>T	11.37:g.76063019T>A	ENSP00000260045:p.His392Leu					PRKRIR_uc010rrz.1_Missense_Mutation_p.H217L	p.H392L	NM_004705	NP_004696	O43422	P52K_HUMAN			5	1175	-			392					A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP	ENST00000260045.3	37	c.1175A>T	CCDS8243.1	.	.	.	.	.	.	.	.	.	.	T	11.27	1.588227	0.28357	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	T;T	0.21361	2.01;2.01	4.78	2.45	0.29901	Ribonuclease H-like (1);	0.569114	0.20483	N	0.091445	T	0.13927	0.0337	L	0.36672	1.1	0.29907	N	0.823863	B	0.06786	0.001	B	0.01281	0.0	T	0.20174	-1.0283	10	0.16420	T	0.52	.	8.3563	0.32331	0.0:0.2783:0.0:0.7217	.	392	O43422	P52K_HUMAN	L	217;392	ENSP00000436249:H217L;ENSP00000260045:H392L	ENSP00000260045:H392L	H	-	2	0	PRKRIR	75740667	0.993000	0.37304	1.000000	0.80357	0.999000	0.98932	0.705000	0.25675	0.821000	0.34540	0.524000	0.50904	CAT		0.378	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383188.1	NM_004705		10	36	0	0	0	0	10	36				
DLG2	1740	broad.mit.edu	37	11	83874509	83874509	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:83874509C>T	ENST00000532653.1	-	4	606	c.304G>A	c.(304-306)Gag>Aag	p.E102K	DLG2_ENST00000398301.2_Missense_Mutation_p.E141K|DLG2_ENST00000543673.1_Missense_Mutation_p.E207K|DLG2_ENST00000524982.1_Missense_Mutation_p.E102K|DLG2_ENST00000376104.2_Missense_Mutation_p.E207K|DLG2_ENST00000330014.6_Missense_Mutation_p.E41K|DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000280241.8_Missense_Mutation_p.E141K|DLG2_ENST00000398309.2_Missense_Mutation_p.E102K|DLG2_ENST00000531015.1_Missense_Mutation_p.E69K|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000418306.2_Missense_Mutation_p.E51K			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	L27 2. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CTTACCCTCTCCAGTGTAATT	0.308																																						uc001paj.2		NA																	0				ovary(3)|pancreas(2)|skin(1)	6						c.(304-306)GAG>AAG		chapsyn-110 isoform 2							94.0	89.0	91.0					11																	83874509		1782	4059	5841	SO:0001583	missense	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding	g.chr11:83874509C>T	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.304G>A	11.37:g.83874509C>T	ENSP00000435849:p.Glu102Lys					DLG2_uc001pai.2_Missense_Mutation_p.E51K|DLG2_uc010rsy.1_Missense_Mutation_p.E69K|DLG2_uc010rsz.1_Missense_Mutation_p.E102K|DLG2_uc010rta.1_Missense_Mutation_p.E102K|DLG2_uc001pak.2_Missense_Mutation_p.E207K|DLG2_uc010rtb.1_Missense_Mutation_p.E69K|DLG2_uc001pal.1_Missense_Mutation_p.E102K|DLG2_uc001pam.1_Missense_Mutation_p.E141K	p.E102K	NM_001364	NP_001355	Q15700	DLG2_HUMAN			4	607	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	102			PDZ 1.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37	c.304G>A		.	.	.	.	.	.	.	.	.	.	C	22.2	4.256608	0.80246	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000398301;ENST00000398299	T;T;T;T;T;T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62	5.22	5.22	0.72569	PDZ/DHR/GLGF (3);	0.000000	0.64402	D	0.000002	T	0.44201	0.1282	L	0.37466	1.105	0.80722	D	1	D;D;P;B;P;D;P;D	0.63880	0.993;0.975;0.956;0.251;0.927;0.989;0.788;0.991	D;P;D;B;P;D;B;D	0.77004	0.989;0.804;0.918;0.087;0.821;0.958;0.4;0.981	T	0.10520	-1.0626	9	.	.	.	.	14.1585	0.65432	0.0:1.0:0.0:0.0	.	69;102;102;41;141;207;102;51	E9PIW2;B7Z2T4;E9PN83;B7Z264;Q6ZSU2;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	K	102;207;51;207;141;41;102;102;207;69;141;19	ENSP00000381355:E102K;ENSP00000365272:E207K;ENSP00000402275:E51K;ENSP00000441994:E207K;ENSP00000280241:E141K;ENSP00000381353:E41K;ENSP00000432894:E102K;ENSP00000435849:E102K;ENSP00000433848:E69K;ENSP00000381346:E141K;ENSP00000381344:E19K	.	E	-	1	0	DLG2	83552157	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.674000	0.61612	2.696000	0.92011	0.655000	0.94253	GAG		0.308	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		7	26	0	0	0	0	7	26				
CHORDC1	26973	broad.mit.edu	37	11	89944413	89944413	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:89944413G>C	ENST00000320585.6	-	5	812	c.403C>G	c.(403-405)Ctg>Gtg	p.L135V	CHORDC1_ENST00000457199.2_Missense_Mutation_p.L116V|CHORDC1_ENST00000529987.1_5'Flank|CHORDC1_ENST00000529726.1_5'Flank	NM_012124.2	NP_036256.2	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1	135	Interaction with HSP90AA1 and HSP90AB1. {ECO:0000250}.				chaperone-mediated protein folding (GO:0061077)|negative regulation of Rho-dependent protein serine/threonine kinase activity (GO:2000299)|regulation of cellular response to heat (GO:1900034)|regulation of centrosome duplication (GO:0010824)|response to stress (GO:0006950)		Hsp90 protein binding (GO:0051879)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				CCTGATGACAGTTTAAGTTTA	0.303																																						uc001pdg.2		NA																	0					0						c.(403-405)CTG>GTG		cysteine and histidine-rich domain-containing							106.0	114.0	112.0					11																	89944413		2201	4291	6492	SO:0001583	missense	26973				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding	g.chr11:89944413G>C	AF192466	CCDS8289.1, CCDS44705.1	11q14.3	2011-01-25	2011-01-25		ENSG00000110172	ENSG00000110172			14525	protein-coding gene	gene with protein product		604353	"""cysteine and histidine-rich domain (CHORD)-containing, zinc-binding protein 1"", ""cysteine and histidine-rich domain (CHORD)-containing 1"""			10571178	Standard	NM_012124		Approved	CHP1	uc001pdg.2	Q9UHD1	OTTHUMG00000167305	ENST00000320585.6:c.403C>G	11.37:g.89944413G>C	ENSP00000319255:p.Leu135Val					CHORDC1_uc009yvz.2_Missense_Mutation_p.L116V	p.L135V	NM_012124	NP_036256	Q9UHD1	CHRD1_HUMAN			5	813	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)	135			Interaction with HSP90AA1 and HSP90AB1 (By similarity).		B2R6P8|Q6IN49|Q8WVL9|Q9H3D6	Missense_Mutation	SNP	ENST00000320585.6	37	c.403C>G	CCDS8289.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353899	0.41700	.	.	ENSG00000110172	ENST00000320585;ENST00000457199	T;T	0.44482	0.92;0.93	5.77	4.86	0.63082	.	0.064368	0.64402	D	0.000005	T	0.38268	0.1034	L	0.54323	1.7	0.80722	D	1	B;B	0.31790	0.34;0.23	B;B	0.32928	0.155;0.074	T	0.16778	-1.0391	9	.	.	.	-3.8418	11.8295	0.52285	0.1407:0.0:0.8593:0.0	.	116;135	Q9UHD1-2;Q9UHD1	.;CHRD1_HUMAN	V	135;116	ENSP00000319255:L135V;ENSP00000401080:L116V	.	L	-	1	2	CHORDC1	89584061	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	2.212000	0.42835	1.453000	0.47775	0.580000	0.79431	CTG		0.303	CHORDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394111.1	NM_012124		18	65	0	0	0	0	18	65				
KMT2A	4297	broad.mit.edu	37	11	118375349	118375349	+	Silent	SNP	C	C	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:118375349C>A	ENST00000389506.5	+	27	8733	c.8733C>A	c.(8731-8733)gtC>gtA	p.V2911V	KMT2A_ENST00000534358.1_Silent_p.V2914V|KMT2A_ENST00000354520.4_Silent_p.V2873V			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2911					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										ATAGTAGTGTCTCTTCCTCTA	0.478																																						uc001pta.2		NA								T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		0				lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(8731-8733)GTC>GTA		myeloid/lymphoid or mixed-lineage leukemia							169.0	157.0	161.0					11																	118375349		2200	4295	6495	SO:0001819	synonymous_variant	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118375349C>A	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.8733C>A	11.37:g.118375349C>A						MLL_uc001ptb.2_Silent_p.V2914V	p.V2911V	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	27	8756	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	2911					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	c.8733C>A	CCDS31686.1																																																																																				0.478	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		39	117	1	0	2.55e-27	2.93e-27	39	117				
TECTA	7007	broad.mit.edu	37	11	120998603	120998603	+	Silent	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:120998603C>T	ENST00000392793.1	+	9	2188	c.1917C>T	c.(1915-1917)ctC>ctT	p.L639L	TECTA_ENST00000264037.2_Silent_p.L639L			O75443	TECTA_HUMAN	tectorin alpha	639	TIL 1.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCTTCGTCCTCAGCACCAGCC	0.657																																						uc010rzo.1		NA																	0				breast(6)|ovary(2)|skin(2)	10						c.(1915-1917)CTC>CTT		tectorin alpha precursor							72.0	65.0	67.0					11																	120998603		2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120998603C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.1917C>T	11.37:g.120998603C>T							p.L639L	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	8	1917	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	639			TIL 1.			Silent	SNP	ENST00000392793.1	37	c.1917C>T	CCDS8434.1																																																																																				0.657	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		22	69	0	0	0	0	22	69				
SORL1	6653	broad.mit.edu	37	11	121348887	121348887	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:121348887G>A	ENST00000260197.7	+	3	592	c.463G>A	c.(463-465)Ggc>Agc	p.G155S	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	155					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GTTAAACTTTGGCTTGGGAAA	0.453																																						uc001pxx.2		NA																	0				ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15						c.(463-465)GGC>AGC		sortilin-related receptor containing LDLR class							94.0	89.0	91.0					11																	121348887		2203	4299	6502	SO:0001583	missense	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121348887G>A	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.463G>A	11.37:g.121348887G>A	ENSP00000260197:p.Gly155Ser						p.G155S	NM_003105	NP_003096	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	3	543	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	155			Extracellular (Potential).		B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.463G>A	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	7.040	0.562344	0.13498	.	.	ENSG00000137642	ENST00000260197	T	0.24723	1.84	5.4	5.4	0.78164	VPS10 (1);	0.567033	0.17707	N	0.164729	T	0.06508	0.0167	N	0.00260	-1.75	0.80722	D	1	B	0.17852	0.024	B	0.18561	0.022	T	0.31613	-0.9937	10	0.05351	T	0.99	.	14.8054	0.69952	0.0:0.1438:0.8562:0.0	.	155	Q92673	SORL_HUMAN	S	155	ENSP00000260197:G155S	ENSP00000260197:G155S	G	+	1	0	SORL1	120854097	1.000000	0.71417	0.125000	0.21846	0.537000	0.34900	3.015000	0.49599	2.526000	0.85167	0.558000	0.71614	GGC		0.453	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		13	41	0	0	0	0	13	41				
SCAF11	9169	broad.mit.edu	37	12	46320591	46320591	+	Missense_Mutation	SNP	G	G	A	rs112858085		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr12:46320591G>A	ENST00000369367.3	-	11	3126	c.2893C>T	c.(2893-2895)Cgg>Tgg	p.R965W	SCAF11_ENST00000549162.1_Missense_Mutation_p.R773W|SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000419565.2_Missense_Mutation_p.R965W|SCAF11_ENST00000465950.1_Missense_Mutation_p.R650W	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	965	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						CCCTTCCACCGGGGAGAGTAA	0.428																																						uc001rox.2		NA																	0					0						c.(2893-2895)CGG>TGG		splicing factor, arginine/serine-rich 2,							185.0	179.0	181.0					12																	46320591		2203	4300	6503	SO:0001583	missense	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46320591G>A	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.2893C>T	12.37:g.46320591G>A	ENSP00000358374:p.Arg965Trp					SFRS2IP_uc001row.2_Missense_Mutation_p.R650W|SFRS2IP_uc001roy.1_Missense_Mutation_p.R1039W	p.R965W	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)	11	3180	-	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	965			Arg-rich.		A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	c.2893C>T	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	G	12.75	2.030535	0.35797	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T;T	0.69926	0.88;1.6;0.87;1.6;-0.44	5.63	3.74	0.42951	.	0.086976	0.49916	N	0.000138	T	0.77336	0.4115	M	0.62723	1.935	0.45914	D	0.998755	P;D	0.89917	0.901;1.0	B;D	0.91635	0.292;0.999	T	0.79057	-0.1959	10	0.87932	D	0	-5.7182	10.8065	0.46520	0.0678:0.0:0.8015:0.1307	.	773;965	F8VXG7;Q99590	.;SCAFB_HUMAN	W	650;965;773;965;905	ENSP00000449812:R650W;ENSP00000358374:R965W;ENSP00000448864:R773W;ENSP00000413036:R965W;ENSP00000446746:R905W	ENSP00000358374:R965W	R	-	1	2	SCAF11	44606858	1.000000	0.71417	0.918000	0.36340	0.149000	0.21700	4.498000	0.60373	1.386000	0.46466	-0.140000	0.14226	CGG		0.428	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		41	138	0	0	0	0	41	138				
ACVR1B	91	broad.mit.edu	37	12	52380658	52380658	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr12:52380658T>G	ENST00000257963.4	+	7	1270	c.1193T>G	c.(1192-1194)tTt>tGt	p.F398C	RNU6-574P_ENST00000384265.1_RNA|ACVR1B_ENST00000542485.1_Missense_Mutation_p.F346C|ACVR1B_ENST00000415850.2_Missense_Mutation_p.F398C|ACVR1B_ENST00000563121.1_Intron|ACVR1B_ENST00000541224.1_Missense_Mutation_p.F439C|ACVR1B_ENST00000426655.2_Missense_Mutation_p.F398C	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	398	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TTTGACTCCTTTAAATGTGCT	0.408																																						uc001rzn.2		NA																	0				pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1)	9						c.(1192-1194)TTT>TGT		activin A receptor, type IB isoform a precursor	Adenosine triphosphate(DB00171)						122.0	119.0	120.0					12																	52380658		2203	4300	6503	SO:0001583	missense	91				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	g.chr12:52380658T>G		CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.1193T>G	12.37:g.52380658T>G	ENSP00000257963:p.Phe398Cys					ACVR1B_uc001rzl.2_Missense_Mutation_p.F398C|ACVR1B_uc001rzm.2_Missense_Mutation_p.F398C|ACVR1B_uc010snn.1_Missense_Mutation_p.F439C	p.F398C	NM_004302	NP_004293	P36896	ACV1B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.104)	7	1235	+			398			Protein kinase.|Cytoplasmic (Potential).		B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	ENST00000257963.4	37	c.1193T>G	CCDS8816.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.249657	0.80024	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000415850;ENST00000542485	D;D;D;D;D	0.93307	-3.2;-3.2;-3.2;-3.2;-3.2	4.77	4.77	0.60923	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96629	0.8900	M	0.84156	2.68	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.996	D;D;D;D	0.91635	0.992;0.999;0.998;0.966	D	0.97280	0.9917	10	0.87932	D	0	.	14.7716	0.69684	0.0:0.0:0.0:1.0	.	439;398;398;398	P36896-4;P36896;P36896-2;P36896-3	.;ACV1B_HUMAN;.;.	C	398;439;398;398;346	ENSP00000257963:F398C;ENSP00000442656:F439C;ENSP00000390477:F398C;ENSP00000397550:F398C;ENSP00000442885:F346C	ENSP00000257963:F398C	F	+	2	0	ACVR1B	50666925	1.000000	0.71417	0.991000	0.47740	0.996000	0.88848	7.868000	0.87116	2.155000	0.67459	0.460000	0.39030	TTT		0.408	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	NM_020328		33	84	0	0	0	0	33	84				
AMHR2	269	broad.mit.edu	37	12	53823690	53823690	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr12:53823690C>T	ENST00000257863.4	+	9	1296	c.1216C>T	c.(1216-1218)Cga>Tga	p.R406*	AMHR2_ENST00000379791.3_Intron|AMHR2_ENST00000550311.1_Nonsense_Mutation_p.R406*	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	406	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> Q (in PMDS2). {ECO:0000269|PubMed:11549681}.		Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CATGGCCCTCCGACGAGCTGA	0.582																																						uc001scx.1		NA																	0				ovary(1)|skin(1)	2						c.(1216-1218)CGA>TGA		anti-Mullerian hormone receptor, type II isoform	Adenosine triphosphate(DB00171)						73.0	69.0	70.0					12																	53823690		2203	4300	6503	SO:0001587	stop_gained	269	Persistant_Mullerian_Duct_Syndrome_(type_I_and_II)			Mullerian duct regression		ATP binding|hormone binding|metal ion binding	g.chr12:53823690C>T	AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"""Muellerian inhibiting substance type II receptor"""	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.1216C>T	12.37:g.53823690C>T	ENSP00000257863:p.Arg406*					AMHR2_uc009zmy.1_Nonsense_Mutation_p.R406*	p.R406*	NM_020547	NP_065434	Q16671	AMHR2_HUMAN			9	1294	+			406		R -> Q (in PMDS2).	Cytoplasmic (Potential).|Protein kinase.		A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Nonsense_Mutation	SNP	ENST00000257863.4	37	c.1216C>T	CCDS8858.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.466226	0.84425	.	.	ENSG00000135409	ENST00000257863;ENST00000550311	.	.	.	4.87	3.98	0.46160	.	0.240185	0.21884	N	0.067682	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	10.5257	0.44948	0.3522:0.6478:0.0:0.0	.	.	.	.	X	406	.	ENSP00000257863:R406X	R	+	1	2	AMHR2	52109957	0.949000	0.32298	1.000000	0.80357	0.875000	0.50365	1.075000	0.30716	1.414000	0.47017	0.563000	0.77884	CGA		0.582	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547		16	47	0	0	0	0	16	47				
IRAK3	11213	broad.mit.edu	37	12	66639014	66639014	+	Missense_Mutation	SNP	G	G	A	rs140671957		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr12:66639014G>A	ENST00000261233.4	+	11	1707	c.1286G>A	c.(1285-1287)cGg>cAg	p.R429Q	IRAK3_ENST00000457197.2_Missense_Mutation_p.R368Q	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		GCTGCAACGCGGGCAAAGTTA	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		17284	0.0		0.0	False		,,,				2504	0.001					uc001sth.2		NA																	0				lung(3)|ovary(2)|breast(2)|central_nervous_system(1)	8						c.(1285-1287)CGG>CAG		interleukin-1 receptor-associated kinase 3		G	GLN/ARG,GLN/ARG	1,4405		0,1,2202	76.0	79.0	78.0		1103,1286	4.1	0.5	12	dbSNP_134	78	0,8600		0,0,4300	yes	missense,missense	IRAK3	NM_001142523.1,NM_007199.2	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	368/536,429/597	66639014	1,13005	2203	4300	6503	SO:0001583	missense	11213				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66639014G>A	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.1286G>A	12.37:g.66639014G>A	ENSP00000261233:p.Arg429Gln					IRAK3_uc010ssy.1_Missense_Mutation_p.R368Q	p.R429Q	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	11	1388	+			429		R -> Q (may be associated with ASRT5).	Protein kinase.			Missense_Mutation	SNP	ENST00000261233.4	37	c.1286G>A	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702027	0.48307	2.27E-4	0.0	ENSG00000090376	ENST00000261233;ENST00000457197	T;T	0.34275	1.37;1.37	5.89	4.05	0.47172	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.256644	0.30003	N	0.010658	T	0.24967	0.0606	L	0.39020	1.185	0.20873	N	0.999834	P;P	0.37573	0.545;0.6	B;B	0.33339	0.057;0.162	T	0.08472	-1.0720	9	.	.	.	-8.1859	9.5967	0.39578	0.1637:0.0:0.8363:0.0	.	368;429	Q9Y616-2;Q9Y616	.;IRAK3_HUMAN	Q	429;368	ENSP00000261233:R429Q;ENSP00000409852:R368Q	.	R	+	2	0	IRAK3	64925281	0.998000	0.40836	0.511000	0.27724	0.003000	0.03518	2.646000	0.46630	0.813000	0.34350	-0.291000	0.09656	CGG		0.438	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			31	87	0	0	0	0	31	87				
C12orf74	338809	broad.mit.edu	37	12	93100819	93100819	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr12:93100819C>T	ENST00000397833.3	+	2	863	c.412C>T	c.(412-414)Cag>Tag	p.Q138*	C12orf74_ENST00000544406.2_Nonsense_Mutation_p.Q138*	NM_001037671.3|NM_001178097.2	NP_001032760.1|NP_001171568.1	Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	138										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						TCCTGAGCTTCAGCCTGTCAA	0.582																																						uc001tch.1		NA																	0					0						c.(412-414)CAG>TAG		hypothetical protein LOC338809							47.0	52.0	50.0					12																	93100819		1935	4134	6069	SO:0001587	stop_gained	338809							g.chr12:93100819C>T	BC043363	CCDS41819.1, CCDS53818.1	12q22	2012-08-16			ENSG00000214215	ENSG00000214215			27887	protein-coding gene	gene with protein product						12477932	Standard	NM_001037671		Approved		uc001tch.2	Q32Q52	OTTHUMG00000170105	ENST00000397833.3:c.412C>T	12.37:g.93100819C>T	ENSP00000380933:p.Gln138*					C12orf74_uc001tci.2_Nonsense_Mutation_p.Q138*	p.Q138*	NM_001037671	NP_001032760	Q32Q52	CL074_HUMAN			2	642	+			138					F5H4P0	Nonsense_Mutation	SNP	ENST00000397833.3	37	c.412C>T	CCDS41819.1	.	.	.	.	.	.	.	.	.	.	C	37	6.044778	0.97231	.	.	ENSG00000214215	ENST00000397833;ENST00000544406	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.33605	D	0.602877	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	13.672	0.62432	0.0:1.0:0.0:0.0	.	.	.	.	X	138	.	ENSP00000380933:Q138X	Q	+	1	0	C12orf74	91624950	0.047000	0.20315	0.024000	0.17045	0.080000	0.17528	1.092000	0.30927	2.687000	0.91594	0.462000	0.41574	CAG		0.582	C12orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407285.1	NM_001037671		12	50	0	0	0	0	12	50				
KNTC1	9735	broad.mit.edu	37	12	123078827	123078827	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr12:123078827C>G	ENST00000333479.7	+	43	4427	c.4250C>G	c.(4249-4251)tCt>tGt	p.S1417C	KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000545065.1_3'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1417					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTCTAGATTTCTTTTCAACCA	0.343																																						uc001ucv.2		NA																	0				ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10						c.(4249-4251)TCT>TGT		Rough Deal homolog, centromere/kinetochore							74.0	73.0	73.0					12																	123078827		1805	4058	5863	SO:0001583	missense	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123078827C>G		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.4250C>G	12.37:g.123078827C>G	ENSP00000328236:p.Ser1417Cys					KNTC1_uc010taf.1_Intron	p.S1417C	NM_014708	NP_055523	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	43	4413	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1417					A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	c.4250C>G	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.284289	0.80803	.	.	ENSG00000184445	ENST00000333479	T	0.16897	2.31	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.42268	0.1195	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.20405	-1.0276	10	0.59425	D	0.04	-17.3873	19.1024	0.93279	0.0:1.0:0.0:0.0	.	1417	P50748	KNTC1_HUMAN	C	1417	ENSP00000328236:S1417C	ENSP00000328236:S1417C	S	+	2	0	KNTC1	121644780	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.249000	0.72427	2.494000	0.84150	0.591000	0.81541	TCT		0.343	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			21	54	0	0	0	0	21	54				
VPS37B	79720	broad.mit.edu	37	12	123355461	123355461	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr12:123355461A>C	ENST00000267202.2	-	2	640	c.259T>G	c.(259-261)Tat>Gat	p.Y87D		NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	87	Interaction with IST1.|VPS37 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00646}.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		TTTATCTGATAGGCTTCAAAG	0.448																																						uc001udl.2		NA																	0					0						c.(259-261)TAT>GAT		vacuolar protein sorting 37B							126.0	124.0	124.0					12																	123355461		2203	4300	6503	SO:0001583	missense	79720				cellular membrane organization|endosome transport|protein transport	late endosome membrane		g.chr12:123355461A>C	AK022812	CCDS9239.1	12q24.31	2008-02-05	2006-04-04		ENSG00000139722	ENSG00000139722			25754	protein-coding gene	gene with protein product		610037	"""vacuolar protein sorting 37B (yeast)"""			15218037	Standard	NM_024667		Approved	FLJ12750	uc001udl.3	Q9H9H4	OTTHUMG00000168767	ENST00000267202.2:c.259T>G	12.37:g.123355461A>C	ENSP00000267202:p.Tyr87Asp						p.Y87D	NM_024667	NP_078943	Q9H9H4	VP37B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)	2	362	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		87			VPS37 C-terminal.|Interaction with IST1.			Missense_Mutation	SNP	ENST00000267202.2	37	c.259T>G	CCDS9239.1	.	.	.	.	.	.	.	.	.	.	A	16.93	3.258152	0.59321	.	.	ENSG00000139722	ENST00000267202;ENST00000535765;ENST00000371248	T;T;T	0.79033	-1.23;-1.23;-1.23	5.39	4.23	0.50019	Modifier of rudimentary, Modr (2);	0.123341	0.56097	D	0.000026	D	0.84529	0.5492	M	0.76328	2.33	0.53688	D	0.999978	D	0.76494	0.999	D	0.72338	0.977	T	0.82348	-0.0502	10	0.40728	T	0.16	0.3325	7.2166	0.25963	0.7795:0.1476:0.0729:0.0	.	87	Q9H9H4	VP37B_HUMAN	D	87;85;85	ENSP00000267202:Y87D;ENSP00000446075:Y85D;ENSP00000360294:Y85D	ENSP00000267202:Y87D	Y	-	1	0	VPS37B	121921414	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.084000	0.71335	0.866000	0.35629	0.477000	0.44152	TAT		0.448	VPS37B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400946.1	NM_024667		24	79	0	0	0	0	24	79				
RIMBP2	23504	broad.mit.edu	37	12	130921797	130921797	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr12:130921797C>T	ENST00000261655.4	-	10	1808	c.1645G>A	c.(1645-1647)Gtg>Atg	p.V549M	RIMBP2_ENST00000535703.1_Missense_Mutation_p.V457M|RIMBP2_ENST00000536002.1_Missense_Mutation_p.V457M	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	549	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		ACAAGCTCCACGGCCGTGCTG	0.692																																						uc001uil.2		NA																	0				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11						c.(1645-1647)GTG>ATG		RIM-binding protein 2							11.0	11.0	11.0					12																	130921797		2189	4287	6476	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130921797C>T	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1645G>A	12.37:g.130921797C>T	ENSP00000261655:p.Val549Met					RIMBP2_uc001uim.2_Missense_Mutation_p.V457M|RIMBP2_uc001uin.1_Missense_Mutation_p.V208M	p.V549M	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	10	1809	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	549			Fibronectin type-III 3.		Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.1645G>A	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.088919	0.55968	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.38401	1.14;1.14;1.14	4.95	4.95	0.65309	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.58637	0.2136	M	0.79475	2.455	0.50313	D	0.999866	D;D;D	0.76494	0.999;0.999;0.994	P;P;P	0.62382	0.647;0.901;0.647	T	0.64943	-0.6288	10	0.87932	D	0	-29.6493	15.3067	0.73998	0.0:0.8598:0.1402:0.0	.	457;457;549	C9JWN3;O15034-2;O15034	.;.;RIMB2_HUMAN	M	549;457;457;457	ENSP00000261655:V549M;ENSP00000440347:V457M;ENSP00000439159:V457M	ENSP00000261655:V549M	V	-	1	0	RIMBP2	129487750	0.995000	0.38212	0.963000	0.40424	0.065000	0.16274	3.267000	0.51577	2.292000	0.77174	0.555000	0.69702	GTG		0.692	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		5	4	0	0	0	0	5	4				
RIMBP2	23504	broad.mit.edu	37	12	130934748	130934748	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr12:130934748T>C	ENST00000261655.4	-	6	690	c.527A>G	c.(526-528)tAt>tGt	p.Y176C	RIMBP2_ENST00000535703.1_Missense_Mutation_p.Y84C|RIMBP2_ENST00000536002.1_Missense_Mutation_p.Y84C	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	176	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CACTTACCTATAGCGGGCAAC	0.562																																						uc001uil.2		NA																	0				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11						c.(526-528)TAT>TGT		RIM-binding protein 2							148.0	121.0	130.0					12																	130934748		2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130934748T>C	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.527A>G	12.37:g.130934748T>C	ENSP00000261655:p.Tyr176Cys					RIMBP2_uc001uim.2_Missense_Mutation_p.Y84C	p.Y176C	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	6	691	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	176			SH3 1.		Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.527A>G	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	T	14.82	2.648930	0.47362	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.38887	1.11;1.11;1.11	4.02	4.02	0.46733	Src homology-3 domain (3);	0.000000	0.85682	D	0.000000	T	0.74665	0.3746	H	0.97611	4.04	0.53688	D	0.999977	B;D	0.89917	0.241;1.0	B;D	0.87578	0.178;0.998	T	0.82559	-0.0397	10	0.87932	D	0	.	11.5469	0.50698	0.0:0.0:0.0:1.0	.	84;176	O15034-2;O15034	.;RIMB2_HUMAN	C	176;84;84;84	ENSP00000261655:Y176C;ENSP00000440347:Y84C;ENSP00000439159:Y84C	ENSP00000261655:Y176C	Y	-	2	0	RIMBP2	129500701	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	7.420000	0.80191	1.457000	0.47850	0.454000	0.30748	TAT		0.562	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		4	7	0	0	0	0	4	7				
DGKH	160851	broad.mit.edu	37	13	42783488	42783488	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr13:42783488A>G	ENST00000337343.4	+	23	2758	c.2737A>G	c.(2737-2739)Ata>Gta	p.I913V	DGKH_ENST00000540693.1_Missense_Mutation_p.I913V|DGKH_ENST00000538674.1_Missense_Mutation_p.I668V|DGKH_ENST00000261491.5_Missense_Mutation_p.I913V|DGKH_ENST00000536612.1_Missense_Mutation_p.I777V|DGKH_ENST00000379274.2_Missense_Mutation_p.I777V|DGKH_ENST00000498255.2_3'UTR	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	913					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)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GAAAATCACTATATTTGGTGA	0.393																																						uc001uyl.1		NA																	0				ovary(2)	2						c.(2737-2739)ATA>GTA		diacylglycerol kinase, eta isoform 2							102.0	98.0	100.0					13																	42783488		2203	4300	6503	SO:0001583	missense	160851				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr13:42783488A>G	AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.2737A>G	13.37:g.42783488A>G	ENSP00000337572:p.Ile913Val					DGKH_uc010tfh.1_Missense_Mutation_p.I913V|DGKH_uc001uym.1_Missense_Mutation_p.I913V|DGKH_uc010tfi.1_Missense_Mutation_p.I668V|DGKH_uc010tfj.1_Missense_Mutation_p.I768V|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Missense_Mutation_p.I768V|DGKH_uc001uyp.2_RNA	p.I913V	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)	23	2758	+		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)	913					A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	ENST00000337343.4	37	c.2737A>G	CCDS9381.1	.	.	.	.	.	.	.	.	.	.	A	17.69	3.452255	0.63290	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	T;T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61;1.61	5.68	5.68	0.88126	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	T	0.48205	0.1487	L	0.58354	1.805	0.80722	D	1	D;P;P;P	0.53151	0.958;0.675;0.815;0.742	P;B;P;P	0.57502	0.822;0.365;0.755;0.576	T	0.46133	-0.9213	10	0.62326	D	0.03	.	16.2237	0.82280	1.0:0.0:0.0:0.0	.	668;777;913;913	F5GYP2;Q86XP1-3;Q86XP1-2;Q86XP1	.;.;.;DGKH_HUMAN	V	913;913;913;777;777;668	ENSP00000440823:I913V;ENSP00000337572:I913V;ENSP00000261491:I913V;ENSP00000368576:I777V;ENSP00000445114:I777V;ENSP00000441308:I668V	ENSP00000261491:I913V	I	+	1	0	DGKH	41681488	1.000000	0.71417	0.998000	0.56505	0.860000	0.49131	9.287000	0.95975	2.289000	0.77006	0.482000	0.46254	ATA		0.393	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009		10	38	0	0	0	0	10	38				
SLITRK6	84189	broad.mit.edu	37	13	86370532	86370532	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr13:86370532C>T	ENST00000400286.2	-	2	710	c.112G>A	c.(112-114)Gag>Aag	p.E38K		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	38	LRRNT 1.				adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TCTTTTTCCTCACAATTGCAA	0.398																																						uc001vll.1		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(112-114)GAG>AAG		slit and trk like 6 precursor							87.0	82.0	84.0					13																	86370532		1877	4108	5985	SO:0001583	missense	84189					integral to membrane		g.chr13:86370532C>T	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.112G>A	13.37:g.86370532C>T	ENSP00000383143:p.Glu38Lys					SLITRK6_uc010afe.1_5'Flank	p.E38K	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	571	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		38			LRRNT 1.|Extracellular (Potential).		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	c.112G>A	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856418	0.71834	.	.	ENSG00000184564	ENST00000400286	T	0.58940	0.3	6.17	6.17	0.99709	.	0.107337	0.64402	D	0.000007	T	0.55513	0.1925	M	0.67397	2.05	0.45718	D	0.99862	P	0.49090	0.919	B	0.40256	0.324	T	0.61013	-0.7148	10	0.54805	T	0.06	-14.937	12.7145	0.57107	0.0:0.9252:0.0:0.0748	.	38	Q9H5Y7	SLIK6_HUMAN	K	38	ENSP00000383143:E38K	ENSP00000383143:E38K	E	-	1	0	SLITRK6	85268533	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.011000	0.57124	2.941000	0.99782	0.655000	0.94253	GAG		0.398	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		4	51	0	0	0	0	4	51				
MYO16	23026	broad.mit.edu	37	13	109699324	109699324	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr13:109699324C>G	ENST00000357550.2	+	23	2832	c.2791C>G	c.(2791-2793)Cta>Gta	p.L931V	MYO16_ENST00000457511.2_Missense_Mutation_p.L443V|MYO16_ENST00000356711.2_Missense_Mutation_p.L931V|MYO16_ENST00000251041.5_Missense_Mutation_p.L931V	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ACAGAATCTTCTATTTGTAAT	0.313																																						uc001vqt.1		NA																	0				ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(2791-2793)CTA>GTA		myosin heavy chain Myr 8							110.0	112.0	112.0					13																	109699324		2203	4300	6503	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109699324C>G		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.2791C>G	13.37:g.109699324C>G	ENSP00000350160:p.Leu931Val					MYO16_uc010agk.1_Missense_Mutation_p.L953V|MYO16_uc001vqu.1_Missense_Mutation_p.L731V|MYO16_uc010tjh.1_Missense_Mutation_p.L443V	p.L931V	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		24	2917	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		931			Myosin head-like 2.			Missense_Mutation	SNP	ENST00000357550.2	37	c.2791C>G	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	C	0.521	-0.862098	0.02610	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857;ENST00000457511	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.62	3.88	0.44766	Myosin head, motor domain (2);	0.246954	0.20633	U	0.088560	T	0.73583	0.3605	N	0.16233	0.39	0.36853	D	0.888004	B;B;B	0.32467	0.372;0.152;0.075	B;B;B	0.30316	0.114;0.041;0.095	T	0.69015	-0.5257	9	.	.	.	.	7.7421	0.28848	0.1391:0.7145:0.0:0.1464	.	443;931;931	F8W883;Q9Y6X6-2;Q9Y6X6	.;.;MYO16_HUMAN	V	931;931;931;931;719;443	ENSP00000349145:L931V;ENSP00000350160:L931V;ENSP00000251041:L931V;ENSP00000401633:L443V	.	L	+	1	2	MYO16	108497325	0.858000	0.29795	0.916000	0.36221	0.941000	0.58515	0.208000	0.17415	0.824000	0.34613	0.650000	0.86243	CTA		0.313	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		14	46	0	0	0	0	14	46				
PTPN21	11099	broad.mit.edu	37	14	88945670	88945670	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr14:88945670G>C	ENST00000556564.1	-	13	2389	c.2105C>G	c.(2104-2106)tCg>tGg	p.S702W	PTPN21_ENST00000328736.3_Missense_Mutation_p.S702W	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	702					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GGTGGCGTCCGACAGGGACTT	0.672																																						uc001xwv.3		NA																	0				ovary(3)|skin(1)	4						c.(2104-2106)TCG>TGG		protein tyrosine phosphatase, non-receptor type							59.0	57.0	58.0					14																	88945670		2203	4300	6503	SO:0001583	missense	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88945670G>C	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.2105C>G	14.37:g.88945670G>C	ENSP00000452414:p.Ser702Trp					PTPN21_uc010twc.1_Missense_Mutation_p.S498W	p.S702W	NM_007039	NP_008970	Q16825	PTN21_HUMAN			13	2436	-			702						Missense_Mutation	SNP	ENST00000556564.1	37	c.2105C>G	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600142	0.87055	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	D;D	0.81579	-1.51;-1.51	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.90177	0.6930	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91194	0.4986	10	0.87932	D	0	.	19.0372	0.92983	0.0:0.0:1.0:0.0	.	702	Q16825	PTN21_HUMAN	W	702	ENSP00000330276:S702W;ENSP00000452414:S702W	ENSP00000330276:S702W	S	-	2	0	PTPN21	88015423	1.000000	0.71417	0.046000	0.18839	0.035000	0.12851	9.409000	0.97331	2.484000	0.83849	0.655000	0.94253	TCG		0.672	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			15	49	0	0	0	0	15	49				
GPR68	8111	broad.mit.edu	37	14	91700861	91700861	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr14:91700861G>C	ENST00000531499.2	-	2	873	c.534C>G	c.(532-534)atC>atG	p.I178M	GPR68_ENST00000529300.1_5'Flank|GPR68_ENST00000535815.1_Missense_Mutation_p.I178M|GPR68_ENST00000238699.3_Missense_Mutation_p.I188M			Q15743	OGR1_HUMAN	G protein-coupled receptor 68	178					cellular response to pH (GO:0071467)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of osteoclast development (GO:2001206)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		GCCATGCCTGGATGGGGTAGT	0.622																																						uc001xzg.2		NA																	0				kidney(1)	1						c.(532-534)ATC>ATG		G protein-coupled receptor 68							77.0	56.0	63.0					14																	91700861		2203	4300	6503	SO:0001583	missense	8111				inflammatory response	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:91700861G>C	U48405	CCDS9894.1, CCDS9894.2	14q31	2012-08-21				ENSG00000119714		"""GPCR / Class A : Orphans"""	4519	protein-coding gene	gene with protein product		601404				8661159	Standard	NM_001177676		Approved	OGR1	uc001xzg.3	Q15743		ENST00000531499.2:c.534C>G	14.37:g.91700861G>C	ENSP00000434045:p.Ile178Met					GPR68_uc001xzh.2_Missense_Mutation_p.I188M	p.I178M	NM_003485	NP_003476	Q15743	OGR1_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	2	875	-		all_cancers(154;0.0555)	178			Extracellular (Potential).		Q13334|Q4VBB4|Q6IX34	Missense_Mutation	SNP	ENST00000531499.2	37	c.534C>G	CCDS9894.2	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.513110	0.00975	.	.	ENSG00000119714	ENST00000531499;ENST00000238699;ENST00000535815;ENST00000529102	T;T;T;T	0.37411	1.2;1.2;1.2;1.2	5.12	1.05	0.20165	GPCR, rhodopsin-like superfamily (1);	0.109105	0.64402	D	0.000010	T	0.14570	0.0352	N	0.05554	-0.025	0.24939	N	0.991861	B;B	0.15141	0.012;0.003	B;B	0.20577	0.03;0.03	T	0.16276	-1.0408	10	0.22706	T	0.39	.	4.0146	0.09637	0.2013:0.1279:0.5651:0.1057	.	178;178	Q6NWR5;Q15743	.;OGR1_HUMAN	M	178;188;178;178	ENSP00000434045:I178M;ENSP00000238699:I188M;ENSP00000440797:I178M;ENSP00000432740:I178M	ENSP00000238699:I188M	I	-	3	3	GPR68	90770614	0.434000	0.25570	0.194000	0.23346	0.579000	0.36224	0.900000	0.28431	0.151000	0.19162	-0.320000	0.08662	ATC		0.622	GPR68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395245.2			3	18	0	0	0	0	3	18				
CASC5	57082	broad.mit.edu	37	15	40951562	40951562	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr15:40951562G>A	ENST00000346991.5	+	26	7207	c.6817G>A	c.(6817-6819)Gca>Aca	p.A2273T	CASC5_ENST00000399668.2_Missense_Mutation_p.A2247T			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	2273	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CTCTAGCTCCGCAGCATTTGC	0.333																																						uc010bbs.1		NA																	0				breast(3)|central_nervous_system(1)|skin(1)	5						c.(6817-6819)GCA>ACA		cancer susceptibility candidate 5 isoform 1							144.0	127.0	132.0					15																	40951562		1850	4092	5942	SO:0001583	missense	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40951562G>A	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.6817G>A	15.37:g.40951562G>A	ENSP00000335463:p.Ala2273Thr					CASC5_uc010bbt.1_Missense_Mutation_p.A2247T	p.A2273T	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	26	6978	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	2273			Necessary for kinetochore localization and for interaction with NSL1 and DSN1.		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	c.6817G>A	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	g	19.09	3.760804	0.69763	.	.	ENSG00000137812	ENST00000346991;ENST00000399668	T;T	0.05649	3.41;3.41	5.88	5.88	0.94601	.	0.284469	0.27469	U	0.019233	T	0.13200	0.0320	N	0.25144	0.715	0.29389	N	0.862788	D;D	0.76494	0.999;0.999	D;D	0.65773	0.938;0.938	T	0.10941	-1.0608	10	0.25106	T	0.35	.	17.1597	0.86801	0.0:0.0:1.0:0.0	.	2247;2273	Q8NG31-2;Q8NG31	.;CASC5_HUMAN	T	2273;2247	ENSP00000335463:A2273T;ENSP00000382576:A2247T	ENSP00000335463:A2273T	A	+	1	0	CASC5	38738854	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	1.394000	0.34509	2.780000	0.95670	0.639000	0.83563	GCA		0.333	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		20	39	0	0	0	0	20	39				
USP8	9101	broad.mit.edu	37	15	50769638	50769638	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr15:50769638C>G	ENST00000396444.3	+	10	1498	c.1160C>G	c.(1159-1161)tCt>tGt	p.S387C	USP8_ENST00000425032.3_Missense_Mutation_p.S310C|USP8_ENST00000433963.1_Missense_Mutation_p.S387C|USP8_ENST00000307179.4_Missense_Mutation_p.S387C	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	387					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		GTTGCTGCTTCTAAATCTGAT	0.343																																						uc001zym.3		NA																	0				lung(1)|central_nervous_system(1)	2						c.(1159-1161)TCT>TGT		ubiquitin specific peptidase 8							98.0	102.0	101.0					15																	50769638		2196	4294	6490	SO:0001583	missense	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50769638C>G	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.1160C>G	15.37:g.50769638C>G	ENSP00000379721:p.Ser387Cys					USP8_uc001zyk.1_Missense_Mutation_p.S88C|USP8_uc001zyl.3_Missense_Mutation_p.S387C|USP8_uc001zyn.3_Missense_Mutation_p.S387C|USP8_uc010ufh.1_Missense_Mutation_p.S310C|USP8_uc010bev.1_Missense_Mutation_p.S16C	p.S387C	NM_001128611	NP_001122083	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	11	1660	+			387					B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	ENST00000396444.3	37	c.1160C>G	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.874087	0.51695	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.19105	2.18;2.18;2.18;2.17	4.34	4.34	0.51931	.	1.123750	0.06329	N	0.705783	T	0.25121	0.0610	N	0.14661	0.345	0.22127	N	0.999343	P;D;D	0.64830	0.947;0.97;0.994	B;B;P	0.54460	0.436;0.436;0.753	T	0.36311	-0.9753	10	0.52906	T	0.07	-3.0556	11.9447	0.52922	0.0:0.9148:0.0:0.0851	.	310;387;387	B4DKA8;P40818;A8K8N5	.;UBP8_HUMAN;.	C	387;387;387;310	ENSP00000379721:S387C;ENSP00000405537:S387C;ENSP00000302239:S387C;ENSP00000412682:S310C	ENSP00000302239:S387C	S	+	2	0	USP8	48556930	0.950000	0.32346	0.997000	0.53966	0.982000	0.71751	2.021000	0.41020	2.409000	0.81822	0.460000	0.39030	TCT		0.343	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		23	43	0	0	0	0	23	43				
ADAMTS7	11173	broad.mit.edu	37	15	79058842	79058842	+	Silent	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr15:79058842G>A	ENST00000388820.4	-	19	3621	c.3411C>T	c.(3409-3411)gcC>gcT	p.A1137A	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1137					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GGGAGCGGCCGGCCTGGCTAG	0.677																																						uc002bej.3		NA																	0					0						c.(3409-3411)GCC>GCT		ADAM metallopeptidase with thrombospondin type 1							5.0	6.0	6.0					15																	79058842		1925	3931	5856	SO:0001819	synonymous_variant	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79058842G>A	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.3411C>T	15.37:g.79058842G>A						ADAMTS7_uc010und.1_3'UTR	p.A1137A	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN			19	3622	-			1137					Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	c.3411C>T	CCDS32303.1																																																																																				0.677	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		3	15	0	0	0	0	3	15				
SV2B	9899	broad.mit.edu	37	15	91835756	91835756	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr15:91835756G>C	ENST00000394232.1	+	13	2496	c.2026G>C	c.(2026-2028)Gag>Cag	p.E676Q	SV2B_ENST00000545111.2_Missense_Mutation_p.E525Q|SV2B_ENST00000330276.4_Missense_Mutation_p.E676Q	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	676					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)	p.E676Q(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TCGACTGCCAGAGACTCGAGA	0.507																																						uc002bqv.2		NA																	1	Substitution - Missense(1)	p.E676Q(1)	upper_aerodigestive_tract(1)	ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(2026-2028)GAG>CAG		synaptic vesicle protein 2B homolog							114.0	107.0	109.0					15																	91835756		2198	4298	6496	SO:0001583	missense	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91835756G>C	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.2026G>C	15.37:g.91835756G>C	ENSP00000377779:p.Glu676Gln					SV2B_uc010uqv.1_Missense_Mutation_p.E525Q|SV2B_uc002bqu.3_RNA	p.E676Q	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		12	2417	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		676			Cytoplasmic (Potential).		B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	ENST00000394232.1	37	c.2026G>C	CCDS10370.1	.	.	.	.	.	.	.	.	.	.	.	32	5.112198	0.94339	.	.	ENSG00000185518	ENST00000545111;ENST00000394232;ENST00000330276	T;T;T	0.62498	0.02;0.02;0.02	6.12	6.12	0.99158	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.043133	0.85682	D	0.000000	T	0.78842	0.4347	M	0.71036	2.16	0.80722	D	1	D	0.71674	0.998	D	0.70016	0.967	T	0.75508	-0.3293	10	0.40728	T	0.16	-31.8729	19.4041	0.94641	0.0:0.0:1.0:0.0	.	676	Q7L1I2	SV2B_HUMAN	Q	525;676;676	ENSP00000443243:E525Q;ENSP00000377779:E676Q;ENSP00000332818:E676Q	ENSP00000332818:E676Q	E	+	1	0	SV2B	89636760	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.570000	0.98174	2.932000	0.99384	0.644000	0.83932	GAG		0.507	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		31	82	0	0	0	0	31	82				
LYSMD4	145748	broad.mit.edu	37	15	100269526	100269526	+	Silent	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr15:100269526G>A	ENST00000409796.1	-	3	755	c.693C>T	c.(691-693)gtC>gtT	p.V231V	LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000545021.1_Silent_p.V105V|LYSMD4_ENST00000344791.2_Silent_p.V232V|LYSMD4_ENST00000332728.4_Silent_p.V231V	NM_001284417.1|NM_001284418.1|NM_001284420.1	NP_001271346.1|NP_001271347.1|NP_001271349.1	Q5XG99	LYSM4_HUMAN	LysM, putative peptidoglycan-binding, domain containing 4	231						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			AGACAGGCAAGACAATACCAA	0.478																																						uc002bvk.2		NA																	0					0						c.(691-693)GTC>GTT		SubName: Full=cDNA FLJ77040, highly similar to Homo sapiens LysM, putative peptidoglycan-binding, domain containing 4, mRNA; SubName: Full=LysM, putative peptidoglycan-binding, domain containing 4, isoform CRA_c;							164.0	156.0	158.0					15																	100269526		2203	4300	6503	SO:0001819	synonymous_variant	145748				cell wall macromolecule catabolic process	integral to membrane		g.chr15:100269526G>A	BC041097	CCDS10381.1, CCDS66876.1, CCDS66877.1, CCDS73788.1	15q26.3	2005-10-24			ENSG00000183060	ENSG00000183060			26571	protein-coding gene	gene with protein product						12477932	Standard	NM_001284418		Approved	FLJ33008	uc002bvl.3	Q5XG99	OTTHUMG00000149853	ENST00000409796.1:c.693C>T	15.37:g.100269526G>A						LYSMD4_uc002bvj.1_Intron|LYSMD4_uc010bou.1_Intron|LYSMD4_uc002bvl.2_Silent_p.V232V|LYSMD4_uc002bvm.2_3'UTR|LYSMD4_uc010bov.2_Silent_p.V231V	p.V231V			Q5XG99	LYSM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)		3	756	-	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		231			Helical; (Potential).		A6NII6|A8K2N1|Q96LY7	Silent	SNP	ENST00000409796.1	37	c.693C>T																																																																																					0.478	LYSMD4-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335634.1	NM_152449		44	142	0	0	0	0	44	142				
TANGO6	79613	broad.mit.edu	37	16	68893913	68893913	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr16:68893913G>C	ENST00000261778.1	+	2	233	c.221G>C	c.(220-222)aGa>aCa	p.R74T		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	74						integral component of membrane (GO:0016021)											AAACTCCTAAGAGATGAAATT	0.403																																						uc002ewi.3		NA																	0					0						c.(220-222)AGA>ACA		transmembrane and coiled-coil domains 7							88.0	83.0	85.0					16																	68893913		1871	4109	5980	SO:0001583	missense	79613					integral to membrane	binding	g.chr16:68893913G>C		CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.221G>C	16.37:g.68893913G>C	ENSP00000261778:p.Arg74Thr					TMCO7_uc002ewh.2_Missense_Mutation_p.R74T	p.R74T	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)	2	233	+		Ovarian(137;0.0568)	74					Q569F9|Q9H9K1	Missense_Mutation	SNP	ENST00000261778.1	37	c.221G>C	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.564261	0.45694	.	.	ENSG00000103047	ENST00000261778	.	.	.	5.41	3.44	0.39384	.	.	.	.	.	T	0.36663	0.0975	M	0.67953	2.075	0.25451	N	0.988003	P	0.34864	0.473	B	0.28553	0.091	T	0.26121	-1.0112	8	0.42905	T	0.14	-6.8607	7.7511	0.28898	0.1545:0.1342:0.7113:0.0	.	74	Q9C0B7	TMCO7_HUMAN	T	74	.	ENSP00000261778:R74T	R	+	2	0	TMCO7	67451414	1.000000	0.71417	0.744000	0.31058	0.948000	0.59901	3.010000	0.49559	1.290000	0.44636	0.561000	0.74099	AGA		0.403	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		6	51	0	0	0	0	6	51				
ZFP1	162239	broad.mit.edu	37	16	75204123	75204123	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr16:75204123G>A	ENST00000393430.2	+	4	1239	c.1115G>A	c.(1114-1116)cGa>cAa	p.R372Q	ZFP1_ENST00000568079.1_3'UTR|ZFP1_ENST00000464850.1_3'UTR|ZFP1_ENST00000332307.4_Missense_Mutation_p.R339Q|ZFP1_ENST00000570010.1_Missense_Mutation_p.R372Q			Q6P2D0	ZFP1_HUMAN	ZFP1 zinc finger protein	372					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R372Q(1)		endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						TTACACTTGCGAATCCACACA	0.473																																					NSCLC(187;1429 2122 10143 20357 42217)	uc002fdo.2		NA																	1	Substitution - Missense(1)	p.R372Q(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1114-1116)CGA>CAA		zinc finger protein 1 homolog							78.0	70.0	73.0					16																	75204123		2198	4300	6498	SO:0001583	missense	162239				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:75204123G>A	AK094761	CCDS10914.2	16q22.3	2013-01-08	2012-11-27		ENSG00000184517	ENSG00000184517		"""Zinc fingers, C2H2-type"", ""-"""	23328	protein-coding gene	gene with protein product			"""zinc finger protein 1 homolog (mouse)"", ""zinc finger protein 1"""			2574853	Standard	NM_153688		Approved	FLJ34243, ZNF475	uc002fdo.3	Q6P2D0	OTTHUMG00000137602	ENST00000393430.2:c.1115G>A	16.37:g.75204123G>A	ENSP00000377080:p.Arg372Gln					ZFP1_uc002fdp.2_Missense_Mutation_p.R317Q|ZFP1_uc010cgt.2_Missense_Mutation_p.R339Q|ZFP1_uc010cgs.2_Missense_Mutation_p.R317Q|ZFP1_uc002fdq.2_Missense_Mutation_p.R372Q	p.R372Q	NM_153688	NP_710155	Q6P2D0	ZFP1_HUMAN			4	1279	+			372			C2H2-type 7.		A8K5Q7|B4DKG9|Q8N188|Q8N9F9	Missense_Mutation	SNP	ENST00000393430.2	37	c.1115G>A	CCDS10914.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375133	0.82682	.	.	ENSG00000184517	ENST00000332307;ENST00000393430	T	0.24723	1.84	4.57	4.57	0.56435	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40908	D	0.000997	T	0.46425	0.1392	L	0.52823	1.66	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.37478	-0.9704	10	0.66056	D	0.02	-13.7693	15.6671	0.77238	0.0:0.0:1.0:0.0	.	372	Q6P2D0	ZFP1_HUMAN	Q	372	ENSP00000377080:R372Q	ENSP00000333192:R372Q	R	+	2	0	ZFP1	73761624	0.606000	0.26949	0.833000	0.33012	0.640000	0.38277	3.745000	0.55119	2.824000	0.97209	0.655000	0.94253	CGA		0.473	ZFP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269013.2	NM_153688		7	55	0	0	0	0	7	55				
CHST6	4166	broad.mit.edu	37	16	75513142	75513142	+	Silent	SNP	T	T	C	rs138994371		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr16:75513142T>C	ENST00000332272.4	-	3	764	c.585A>G	c.(583-585)ctA>ctG	p.L195L	CHST6_ENST00000390664.2_Silent_p.L195L|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	195					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCACGATGCGTAGGTTGAGCG	0.687													T|||	1	0.000199681	0.0008	0.0	5008	,	,		16180	0.0		0.0	False		,,,				2504	0.0					uc002fef.2		NA																	0					0						c.(583-585)CTA>CTG		carbohydrate (N-acetylglucosamine 6-O)		T		1,4391		0,1,2195	38.0	39.0	39.0		585	1.4	1.0	16	dbSNP_134	39	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	CHST6	NM_021615.4		0,2,6492	CC,CT,TT		0.0116,0.0228,0.0154		195/396	75513142	2,12986	2196	4298	6494	SO:0001819	synonymous_variant	4166				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75513142T>C	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"""Sulfotransferases, membrane-bound"""	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.585A>G	16.37:g.75513142T>C						CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Silent_p.L195L	p.L195L	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN			3	765	-			195			Lumenal (Potential).		D3DUK3	Silent	SNP	ENST00000332272.4	37	c.585A>G	CCDS10918.1																																																																																				0.687	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615		11	44	0	0	0	0	11	44				
MBTPS1	8720	broad.mit.edu	37	16	84104310	84104310	+	Silent	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr16:84104310T>C	ENST00000343411.3	-	13	2160	c.1665A>G	c.(1663-1665)ttA>ttG	p.L555L	MBTPS1_ENST00000569770.1_5'Flank	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	555					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ACCAAGGCCATAAGACCGAGG	0.522																																						uc002fhi.2		NA																	0				ovary(2)	2						c.(1663-1665)TTA>TTG		membrane-bound transcription factor site-1							106.0	94.0	98.0					16																	84104310		2200	4300	6500	SO:0001819	synonymous_variant	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84104310T>C	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.1665A>G	16.37:g.84104310T>C						MBTPS1_uc002fhh.2_Silent_p.L59L	p.L555L	NM_003791	NP_003782	Q14703	MBTP1_HUMAN			13	2167	-			555			Lumenal (Potential).		A8K6V8|Q24JQ2|Q9UF67	Silent	SNP	ENST00000343411.3	37	c.1665A>G	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	T	9.871	1.198901	0.22121	.	.	ENSG00000140943	ENST00000347334	.	.	.	5.76	-7.95	0.01148	.	.	.	.	.	T	0.65637	0.2710	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74993	-0.3474	5	0.87932	D	0	-13.5847	11.8154	0.52207	0.0:0.5526:0.1687:0.2786	.	.	.	.	V	1	.	ENSP00000342515:M1V	M	-	1	0	MBTPS1	82661811	0.007000	0.16637	0.424000	0.26647	0.897000	0.52465	-1.082000	0.03400	-1.436000	0.01970	0.482000	0.46254	ATG		0.522	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		16	73	0	0	0	0	16	73				
ZFP3	124961	broad.mit.edu	37	17	4994843	4994843	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr17:4994843C>T	ENST00000318833.3	+	2	380	c.44C>T	c.(43-45)tCt>tTt	p.S15F		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	15					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						GAAGAAATTTCTGAAGAATCT	0.403																																						uc002gaq.2		NA																	0					0						c.(43-45)TCT>TTT		zinc finger protein-3							61.0	60.0	60.0					17																	4994843		2203	4300	6503	SO:0001583	missense	124961				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:4994843C>T	BX647638	CCDS11067.1	17p13.2	2013-01-08	2012-11-27		ENSG00000180787	ENSG00000180787		"""Zinc fingers, C2H2-type"""	12861	protein-coding gene	gene with protein product		194480	"""zinc finger protein homologous to Zfp-3 in mouse"", ""zinc finger protein 3 homolog (mouse)"""				Standard	NM_153018		Approved	FLJ30726, ZNF752	uc002gaq.3	Q96NJ6		ENST00000318833.3:c.44C>T	17.37:g.4994843C>T	ENSP00000320347:p.Ser15Phe						p.S15F	NM_153018	NP_694563	Q96NJ6	ZFP3_HUMAN			2	169	+			15					A5PLL4	Missense_Mutation	SNP	ENST00000318833.3	37	c.44C>T	CCDS11067.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.426507	0.43020	.	.	ENSG00000180787	ENST00000318833	T	0.10573	2.86	4.13	1.0	0.19881	.	0.000000	0.33040	N	0.005360	T	0.03783	0.0107	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43376	-0.9395	10	0.11794	T	0.64	-13.4958	4.4532	0.11630	0.1583:0.5991:0.1534:0.0892	.	15	Q96NJ6	ZFP3_HUMAN	F	15	ENSP00000320347:S15F	ENSP00000320347:S15F	S	+	2	0	ZFP3	4935567	0.004000	0.15560	0.358000	0.25811	0.991000	0.79684	0.081000	0.14823	0.287000	0.22375	0.563000	0.77884	TCT		0.403	ZFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438979.1	NM_153018		16	15	0	0	0	0	16	15				
TP53	7157	broad.mit.edu	37	17	7577114	7577114	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr17:7577114C>A	ENST00000269305.4	-	8	1013	c.824G>T	c.(823-825)tGt>tTt	p.C275F	TP53_ENST00000455263.2_Missense_Mutation_p.C275F|TP53_ENST00000359597.4_Missense_Mutation_p.C275F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.C275F|TP53_ENST00000420246.2_Missense_Mutation_p.C275F	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	275	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7887414}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGGACAGGCACAAACACGCAC	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		115	Substitution - Missense(92)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(2)	p.C275Y(44)|p.C275F(34)|p.C275G(7)|p.C275W(7)|p.0?(7)|p.C275R(6)|p.C275C(4)|p.C275fs*70(2)|p.C275fs*31(2)|p.?(2)|p.C275S(2)|p.R273_C275delRVC(1)|p.C275_A276ins10(1)|p.V274_P278del(1)|p.C275*(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275fs*20(1)|p.A276fs*29(1)	lung(14)|large_intestine(13)|breast(13)|upper_aerodigestive_tract(12)|central_nervous_system(10)|haematopoietic_and_lymphoid_tissue(10)|ovary(7)|urinary_tract(6)|stomach(5)|oesophagus(5)|bone(5)|liver(5)|skin(3)|pancreas(2)|NS(2)|prostate(2)|biliary_tract(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM076568|CM951234	TP53	M		c.(823-825)TGT>TTT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							71.0	61.0	64.0					17																	7577114		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577114C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.824G>T	17.37:g.7577114C>A	ENSP00000269305:p.Cys275Phe	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.C275F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C143F|TP53_uc010cng.1_Missense_Mutation_p.C143F|TP53_uc002gii.1_Missense_Mutation_p.C143F|TP53_uc010cnh.1_Missense_Mutation_p.C275F|TP53_uc010cni.1_Missense_Mutation_p.C275F|TP53_uc002gij.2_Missense_Mutation_p.C275F	p.C275F	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1018	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	275		C -> S (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.824G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536533	0.85812	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99874	-7.39;-7.39;-7.39;-7.39;-7.39;-7.39	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99883	0.9944	M	0.92738	3.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;D	0.97110	0.993;1.0;0.993;0.993	D	0.96317	0.9233	10	0.87932	D	0	-17.2181	15.662	0.77193	0.0:1.0:0.0:0.0	.	275;275;275;275	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	F	275;275;275;275;275;264;143	ENSP00000352610:C275F;ENSP00000269305:C275F;ENSP00000398846:C275F;ENSP00000391127:C275F;ENSP00000391478:C275F;ENSP00000425104:C143F	ENSP00000269305:C275F	C	-	2	0	TP53	7517839	1.000000	0.71417	0.999000	0.59377	0.904000	0.53231	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	TGT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		16	18	1	0	1.52e-12	1.72e-12	16	18				
ZNF286A	57335	broad.mit.edu	37	17	15619477	15619477	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr17:15619477G>T	ENST00000464847.2	+	5	992	c.439G>T	c.(439-441)Gtc>Ttc	p.V147F	ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000472486.1_3'UTR|ZNF286A_ENST00000421016.1_Missense_Mutation_p.V147F|ZNF286A_ENST00000581529.1_3'UTR|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000583566.1_Missense_Mutation_p.V147F|ZNF286A_ENST00000413242.2_Missense_Mutation_p.V147F|ZNF286A_ENST00000593105.1_Missense_Mutation_p.V137F			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	147					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)			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		ACGGAATAGTGTCTATGACTC	0.403																																						uc010cot.2		NA																	0				central_nervous_system(1)	1						c.(439-441)GTC>TTC		zinc finger protein 286							59.0	59.0	59.0					17																	15619477		2201	4292	6493	SO:0001583	missense	57335				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:15619477G>T	AF217226	CCDS11172.1, CCDS73997.1	17p11.2	2013-02-14	2007-01-05	2007-01-05		ENSG00000187607		"""Zinc fingers, C2H2-type"", ""-"""	13501	protein-coding gene	gene with protein product			"""zinc finger protein 286"""	ZNF286		11347906	Standard	NM_020652		Approved	KIAA1874	uc010cot.3	Q9HBT8	OTTHUMG00000166448	ENST00000464847.2:c.439G>T	17.37:g.15619477G>T	ENSP00000464218:p.Val147Phe					ZNF286A_uc002goz.3_Missense_Mutation_p.V35F|ZNF286A_uc010vwa.1_Missense_Mutation_p.V147F|ZNF286A_uc002gpa.2_Missense_Mutation_p.V147F	p.V147F	NM_001130842	NP_001124314	Q9HBT8	Z286A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)	6	835	+			147					B4DKF9|Q96JF3	Missense_Mutation	SNP	ENST00000464847.2	37	c.439G>T	CCDS11172.1	.	.	.	.	.	.	.	.	.	.	g	1.538	-0.542455	0.04053	.	.	ENSG00000187607	ENST00000421016;ENST00000412988;ENST00000395894	T;T	0.07327	3.56;3.2	4.38	2.23	0.28157	.	1.916000	0.03353	N	0.196435	T	0.04724	0.0128	N	0.08118	0	0.09310	N	1	B	0.32653	0.379	B	0.30782	0.12	T	0.33777	-0.9855	10	0.14252	T	0.57	-2.3418	6.8666	0.24096	0.1029:0.0:0.7125:0.1846	.	147	Q9HBT8	Z286A_HUMAN	F	147;137;147	ENSP00000397163:V147F;ENSP00000408168:V137F	ENSP00000435872:V147F	V	+	1	0	ZNF286A	15560202	0.000000	0.05858	0.036000	0.18154	0.409000	0.31022	0.031000	0.13710	1.053000	0.40415	0.650000	0.86243	GTC		0.403	ZNF286A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130696.4	NM_020652		19	20	1	0	3.62e-10	4.07e-10	19	20				
WIPF2	147179	broad.mit.edu	37	17	38433351	38433351	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr17:38433351G>C	ENST00000323571.4	+	7	1437	c.1197G>C	c.(1195-1197)aaG>aaC	p.K399N	WIPF2_ENST00000394103.3_Missense_Mutation_p.K141N|WIPF2_ENST00000583130.1_Missense_Mutation_p.K399N|WIPF2_ENST00000536600.1_Missense_Mutation_p.K141N|WIPF2_ENST00000585043.1_Missense_Mutation_p.K399N|WIPF2_ENST00000494757.1_3'UTR	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	399					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)		p.K399N(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						TTGAGTCAAAGTATTCCTTCC	0.413										HNSCC(43;0.11)																												uc002hug.1		NA																	1	Substitution - Missense(1)	p.K399N(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						c.(1195-1197)AAG>AAC		WIRE protein							134.0	143.0	140.0					17																	38433351		2203	4300	6503	SO:0001583	missense	147179					cytoplasm|cytoskeleton	actin binding	g.chr17:38433351G>C	BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.1197G>C	17.37:g.38433351G>C	ENSP00000320924:p.Lys399Asn	HNSCC(43;0.11)				WIPF2_uc002huh.1_Missense_Mutation_p.K249N|WIPF2_uc010cww.1_Missense_Mutation_p.K249N|WIPF2_uc002hui.1_Missense_Mutation_p.K399N|WIPF2_uc010cwx.1_Missense_Mutation_p.K141N|WIPF2_uc010cwy.1_Missense_Mutation_p.K399N	p.K399N	NM_133264	NP_573571	Q8TF74	WIPF2_HUMAN			7	1437	+			399					A8K0L3|Q658J8|Q71RE1|Q8TE44	Missense_Mutation	SNP	ENST00000323571.4	37	c.1197G>C	CCDS11364.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509597	0.64522	.	.	ENSG00000171475	ENST00000323571;ENST00000394103;ENST00000536600	T;T;T	0.57752	0.75;0.38;0.38	5.71	0.34	0.15985	.	0.000000	0.85682	D	0.000000	T	0.65354	0.2683	M	0.69823	2.125	0.52501	D	0.999958	D;D	0.76494	0.999;0.999	D;D	0.81914	0.994;0.995	T	0.64011	-0.6507	10	0.72032	D	0.01	-10.8122	8.5088	0.33204	0.5493:0.0:0.4507:0.0	.	141;399	A8MWR2;Q8TF74	.;WIPF2_HUMAN	N	399;141;141	ENSP00000320924:K399N;ENSP00000377663:K141N;ENSP00000439175:K141N	ENSP00000320924:K399N	K	+	3	2	WIPF2	35686877	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	0.851000	0.27751	0.078000	0.16900	0.467000	0.42956	AAG		0.413	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257157.2	NM_133264		20	78	0	0	0	0	20	78				
GFAP	2670	broad.mit.edu	37	17	42992693	42992693	+	Silent	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr17:42992693C>T	ENST00000253408.5	-	1	227	c.162G>A	c.(160-162)ctG>ctA	p.L54L	GFAP_ENST00000588735.1_Intron|GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000435360.2_Silent_p.L54L|GFAP_ENST00000586793.1_Silent_p.L54L	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	54	Head.				astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				GTGCCCCAGCCAGGGAGAAAT	0.657																																						uc002ihq.2		NA																	0				ovary(1)|pancreas(1)	2						c.(160-162)CTG>CTA		glial fibrillary acidic protein isoform 1							30.0	32.0	32.0					17																	42992693		2203	4300	6503	SO:0001819	synonymous_variant	2670					cytoplasm|intermediate filament	structural constituent of cytoskeleton	g.chr17:42992693C>T	S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"""Intermediate filaments type III"""	4235	protein-coding gene	gene with protein product	"""intermediate filament protein"""	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.162G>A	17.37:g.42992693C>T						GFAP_uc002ihr.2_Silent_p.L54L|GFAP_uc010wjg.1_RNA	p.L54L	NM_002055	NP_002046	P14136	GFAP_HUMAN			1	222	-		Prostate(33;0.0959)	54			Head.		B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Silent	SNP	ENST00000253408.5	37	c.162G>A	CCDS11491.1																																																																																				0.657	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	NM_002055		18	40	0	0	0	0	18	40				
TTLL6	284076	broad.mit.edu	37	17	46862375	46862375	+	Silent	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr17:46862375G>A	ENST00000393382.3	-	13	2091	c.1950C>T	c.(1948-1950)ctC>ctT	p.L650L	TTLL6_ENST00000433608.2_Silent_p.L343L	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TCGAGCTGCTGAGATTGATAT	0.537																																						uc010wlo.1		NA																	0					0						c.(1948-1950)CTC>CTT		tubulin tyrosine ligase-like family, member 6							137.0	137.0	137.0					17																	46862375		2203	4300	6503	SO:0001819	synonymous_variant	284076					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr17:46862375G>A	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.1950C>T	17.37:g.46862375G>A						TTLL6_uc002iob.2_Silent_p.L343L|TTLL6_uc010dbi.2_RNA|TTLL6_uc002ioc.2_Silent_p.L403L|TTLL6_uc002iod.2_Silent_p.L497L	p.L650L	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN			14	1985	-			602						Silent	SNP	ENST00000393382.3	37	c.1950C>T	CCDS45724.1																																																																																				0.537	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		72	121	0	0	0	0	72	121				
BAHCC1	57597	broad.mit.edu	37	17	79410170	79410170	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr17:79410170G>A	ENST00000307745.7	+	9	1795	c.1795G>A	c.(1795-1797)Gag>Aag	p.E599K																								CATCAGCGAGGAGCGCAAGGC	0.706																																						uc002kaf.2		NA																	0				ovary(1)	1						c.(1795-1797)GAG>AAG		BAH domain and coiled-coil containing 1							19.0	24.0	22.0					17																	79410170		1981	4157	6138	SO:0001583	missense	57597						DNA binding	g.chr17:79410170G>A																												ENST00000307745.7:c.1795G>A	17.37:g.79410170G>A	ENSP00000303486:p.Glu599Lys					BAHCC1_uc002kae.2_5'Flank	p.E599K	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)		3	1795	+	all_neural(118;0.0804)|Melanoma(429;0.242)		599						Missense_Mutation	SNP	ENST00000307745.7	37	c.1795G>A		.	.	.	.	.	.	.	.	.	.	g	20.9	4.067122	0.76301	.	.	ENSG00000171282	ENST00000307745	T	0.12984	2.63	4.2	4.2	0.49525	.	.	.	.	.	T	0.26666	0.0652	L	0.34521	1.04	0.40798	D	0.983313	D	0.63880	0.993	D	0.72625	0.978	T	0.04900	-1.0919	9	0.66056	D	0.02	.	15.4933	0.75629	0.0:0.0:1.0:0.0	.	599	Q9P281	BAHC1_HUMAN	K	599	ENSP00000303486:E599K	ENSP00000303486:E599K	E	+	1	0	AC110285.1	77024765	1.000000	0.71417	0.997000	0.53966	0.721000	0.41392	2.781000	0.47750	2.170000	0.68504	0.558000	0.71614	GAG		0.706	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				11	30	0	0	0	0	11	30				
EPB41L3	23136	broad.mit.edu	37	18	5397422	5397422	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr18:5397422T>C	ENST00000341928.2	-	18	2816	c.2476A>G	c.(2476-2478)Atg>Gtg	p.M826V	EPB41L3_ENST00000400111.3_Missense_Mutation_p.M604V|EPB41L3_ENST00000544123.1_Missense_Mutation_p.M657V|EPB41L3_ENST00000342933.3_Missense_Mutation_p.M826V|EPB41L3_ENST00000540638.2_Missense_Mutation_p.M604V|EPB41L3_ENST00000542146.1_Missense_Mutation_p.M131V|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000427684.2_Missense_Mutation_p.M123V	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	826	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TTGGTTTCCATTTTCTGCATG	0.517																																						uc002kmt.1		NA																	0				ovary(5)	5						c.(2476-2478)ATG>GTG		erythrocyte membrane protein band 4.1-like 3							69.0	72.0	71.0					18																	5397422		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5397422T>C	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2476A>G	18.37:g.5397422T>C	ENSP00000343158:p.Met826Val					EPB41L3_uc010wzh.1_Missense_Mutation_p.M657V|EPB41L3_uc002kmu.1_Missense_Mutation_p.M604V|EPB41L3_uc010dkq.1_Missense_Mutation_p.M495V|EPB41L3_uc002kms.1_Missense_Mutation_p.M61V|EPB41L3_uc010wze.1_Missense_Mutation_p.M131V|EPB41L3_uc010wzf.1_Missense_Mutation_p.M123V|EPB41L3_uc010wzg.1_Missense_Mutation_p.M98V|EPB41L3_uc010dkr.2_Missense_Mutation_p.M218V	p.M826V	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			18	2562	-			826			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.2476A>G	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	T	3.546	-0.092639	0.07053	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	T;T;T;T;T;D	0.81579	-1.27;-1.42;0.1;0.09;-1.27;-1.51	5.9	2.05	0.26809	.	1.405060	0.04038	N	0.302576	T	0.67202	0.2868	N	0.14661	0.345	0.22253	N	0.999257	B;B;B;B;B;B;B;B	0.09022	0.002;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.12837	0.008;0.001;0.002;0.001;0.0;0.003;0.0;0.001	T	0.51426	-0.8707	10	0.29301	T	0.29	.	6.9417	0.24496	0.0:0.0797:0.2921:0.6282	.	657;123;131;218;495;604;826;61	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	V	826;495;657;495;123;131;826;604	ENSP00000343158:M826V;ENSP00000441174:M657V;ENSP00000392195:M123V;ENSP00000442233:M131V;ENSP00000341138:M826V;ENSP00000382981:M604V	ENSP00000343158:M826V	M	-	1	0	EPB41L3	5387422	0.792000	0.28813	0.422000	0.26621	0.323000	0.28346	0.718000	0.25866	0.096000	0.17463	0.460000	0.39030	ATG		0.517	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		32	82	0	0	0	0	32	82				
ANKRD30B	374860	broad.mit.edu	37	18	14780007	14780007	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr18:14780007C>G	ENST00000358984.4	+	11	1649	c.1469C>G	c.(1468-1470)tCt>tGt	p.S490C	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.S490C|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	490										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GAAGAATATTCTTGGGATTCT	0.313																																						uc010dlo.2		NA																	0				ovary(1)|skin(1)	2						c.(1468-1470)TCT>TGT		ankyrin repeat domain 30B							212.0	192.0	198.0					18																	14780007		692	1591	2283	SO:0001583	missense	374860							g.chr18:14780007C>G	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.1469C>G	18.37:g.14780007C>G	ENSP00000351875:p.Ser490Cys					ANKRD30B_uc010xak.1_RNA	p.S490C	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN			11	1649	+			490					B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.1469C>G	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	9.174	1.021850	0.19433	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.41400	1.0;1.22	1.69	0.795	0.18643	.	.	.	.	.	T	0.38374	0.1038	L	0.44542	1.39	0.09310	N	1	D	0.53462	0.96	P	0.49637	0.617	T	0.22103	-1.0226	9	0.66056	D	0.02	.	4.0834	0.09937	0.0:0.7811:0.0:0.2189	.	490	F8WAG3	.	C	490	ENSP00000351875:S490C;ENSP00000399031:S490C	ENSP00000351875:S490C	S	+	2	0	ANKRD30B	14770007	0.992000	0.36948	0.006000	0.13384	0.088000	0.18126	1.999000	0.40806	0.320000	0.23234	0.297000	0.19635	TCT		0.313	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		5	11	0	0	0	0	5	11				
DSG3	1830	broad.mit.edu	37	18	29055986	29055986	+	Silent	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr18:29055986C>T	ENST00000257189.4	+	16	2846	c.2763C>T	c.(2761-2763)tcC>tcT	p.S921S		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	921					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CAGCTGTTTCCATCCCTGACC	0.507																																						uc002kws.2		NA																	0				skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9						c.(2761-2763)TCC>TCT		desmoglein 3 preproprotein							137.0	127.0	131.0					18																	29055986		2203	4300	6503	SO:0001819	synonymous_variant	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29055986C>T	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.2763C>T	18.37:g.29055986C>T						DSG3_uc002kwt.2_Silent_p.S203S	p.S921S	NM_001944	NP_001935	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		16	2872	+			921			Desmoglein repeat 1.|Cytoplasmic (Potential).		A8K2V2	Silent	SNP	ENST00000257189.4	37	c.2763C>T	CCDS11898.1																																																																																				0.507	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		22	70	0	0	0	0	22	70				
NETO1	81832	broad.mit.edu	37	18	70461478	70461478	+	Splice_Site	SNP	C	C	T	rs191705126	byFrequency	TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr18:70461478C>T	ENST00000327305.6	-	6	1170	c.513G>A	c.(511-513)gcG>gcA	p.A171A	NETO1_ENST00000583169.1_Splice_Site_p.A171A|NETO1_ENST00000299430.2_Splice_Site_p.A170A	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	171					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)		p.A171A(1)		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)		CAAACTCACACGCTAAATAAC	0.388													C|||	3	0.000599042	0.0	0.0	5008	,	,		19481	0.0		0.003	False		,,,				2504	0.0					uc002lkw.2		NA																	1	Substitution - coding silent(1)		endometrium(1)	ovary(2)|skin(2)	4						c.(511-513)GCG>GCA		neuropilin- and tolloid-like protein 1 isoform 3		C	,	0,4406		0,0,2203	83.0	82.0	83.0		513,513	0.0	0.1	18		83	2,8598	2.2+/-6.3	0,2,4298	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	NETO1	NM_001201465.1,NM_138966.3	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	171/534,171/534	70461478	2,13004	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.chr18:70461478C>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.512-1G>A	18.37:g.70461478C>T						NETO1_uc002lkx.1_Silent_p.A170A|NETO1_uc002lky.1_Silent_p.A171A	p.A171A	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	6	797	-		Esophageal squamous(42;0.129)	171			Extracellular (Potential).		Q86W85|Q8ND78|Q8TDF4	Silent	SNP	ENST00000327305.6	37	c.513G>A	CCDS12000.1																																																																																				0.388	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999	Silent	19	61	0	0	0	0	19	61				
SUGP2	10147	broad.mit.edu	37	19	19112448	19112448	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr19:19112448G>A	ENST00000601879.1	-	8	3262	c.2965C>T	c.(2965-2967)Cgg>Tgg	p.R989W	SUGP2_ENST00000337018.6_Missense_Mutation_p.R989W|SUGP2_ENST00000600377.1_Missense_Mutation_p.R1003W|SUGP2_ENST00000452918.2_Missense_Mutation_p.R989W|SUGP2_ENST00000456085.2_Missense_Mutation_p.R758W			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	989					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R989W(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GGACGACCCCGAGGCCTGTCA	0.423																																						uc002nkx.2		NA																	1	Substitution - Missense(1)	p.R989W(1)	upper_aerodigestive_tract(1)		0						c.(2965-2967)CGG>TGG		splicing factor, arginine/serine-rich 14							117.0	100.0	106.0					19																	19112448		2203	4300	6503	SO:0001583	missense	10147				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:19112448G>A	AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.2965C>T	19.37:g.19112448G>A	ENSP00000472286:p.Arg989Trp					SFRS14_uc002nkz.1_Missense_Mutation_p.R1003W|SFRS14_uc002nla.1_Missense_Mutation_p.R989W|SFRS14_uc002nlb.2_Missense_Mutation_p.R989W|SFRS14_uc010xqk.1_Missense_Mutation_p.R758W	p.R989W	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161)		8	3111	-			989					C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Missense_Mutation	SNP	ENST00000601879.1	37	c.2965C>T	CCDS12392.1	.	.	.	.	.	.	.	.	.	.	g	21.2	4.114453	0.77210	.	.	ENSG00000064607	ENST00000337018;ENST00000330854;ENST00000452918;ENST00000456085	T;T;T;T	0.14022	2.7;2.78;2.7;2.54	5.24	4.19	0.49359	.	0.123616	0.36444	N	0.002583	T	0.25644	0.0624	L	0.32530	0.975	0.27330	N	0.956792	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.993;0.95	T	0.03231	-1.1058	10	0.87932	D	0	-12.944	12.8629	0.57924	0.0:0.0:0.8375:0.1625	.	758;989;989	E7ETX7;A8K5G0;Q8IX01	.;.;SUGP2_HUMAN	W	989;937;989;758	ENSP00000337926:R989W;ENSP00000332373:R937W;ENSP00000389380:R989W;ENSP00000409603:R758W	ENSP00000332373:R937W	R	-	1	2	SUGP2	18973448	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.660000	0.61511	1.178000	0.42870	0.580000	0.79431	CGG		0.423	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392		11	62	0	0	0	0	11	62				
ZNF345	25850	broad.mit.edu	37	19	37368294	37368294	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr19:37368294G>A	ENST00000529555.1	+	2	1350	c.562G>A	c.(562-564)Gcc>Acc	p.A188T	ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.A188T|ZNF345_ENST00000420450.1_Missense_Mutation_p.A188T|ZNF345_ENST00000526123.1_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	188					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTTGAATCAGCCCTTATTCG	0.413																																						uc002oex.2		NA																	0				ovary(1)	1						c.(562-564)GCC>ACC		zinc finger protein 345							68.0	64.0	65.0					19																	37368294		2203	4300	6503	SO:0001583	missense	25850				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding	g.chr19:37368294G>A	X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"""Zinc fingers, C2H2-type"""	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.562G>A	19.37:g.37368294G>A	ENSP00000431202:p.Ala188Thr					ZNF345_uc002oey.3_Missense_Mutation_p.A188T|ZNF345_uc002oez.2_Intron	p.A188T	NM_003419	NP_003410	Q14585	ZN345_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		3	940	+	Esophageal squamous(110;0.183)		188			C2H2-type 5.			Missense_Mutation	SNP	ENST00000529555.1	37	c.562G>A	CCDS12497.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.914231	0.33815	.	.	ENSG00000251247	ENST00000420450;ENST00000529555	T;T	0.07567	3.18;3.18	3.86	2.72	0.32119	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04497	0.0123	N	0.17312	0.475	0.20307	N	0.999911	B	0.27166	0.17	B	0.22753	0.041	T	0.37267	-0.9713	8	.	.	.	.	4.9588	0.14056	0.1197:0.218:0.6623:0.0	.	188	Q14585	ZN345_HUMAN	T	188	ENSP00000431216:A188T;ENSP00000431202:A188T	.	A	+	1	0	ZNF345	42060134	0.000000	0.05858	1.000000	0.80357	0.990000	0.78478	-3.751000	0.00376	2.132000	0.65825	0.561000	0.74099	GCC		0.413	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1			22	41	0	0	0	0	22	41				
HNRNPL	3191	broad.mit.edu	37	19	39336360	39336360	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr19:39336360T>C	ENST00000221419.5	-	4	1006	c.640A>G	c.(640-642)Atc>Gtc	p.I214V	AC008982.2_ENST00000600473.1_RNA|HNRNPL_ENST00000600873.1_Missense_Mutation_p.I81V	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	214	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GGATTACAGATAGTGTAAAGA	0.478																																						uc010xul.1		NA																	0					0						c.(640-642)ATC>GTC		heterogeneous nuclear ribonucleoprotein L							78.0	75.0	76.0					19																	39336360		2203	4300	6503	SO:0001583	missense	3191				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	g.chr19:39336360T>C	X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.640A>G	19.37:g.39336360T>C	ENSP00000221419:p.Ile214Val					HNRNPL_uc010xum.1_Missense_Mutation_p.I81V|HNRNPL_uc010xun.1_5'Flank	p.I214V	NM_001533	NP_001524	P14866	HNRPL_HUMAN	Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		4	651	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		214			RRM 2.		A6ND69|A6NIT8|Q9H3P3	Missense_Mutation	SNP	ENST00000221419.5	37	c.640A>G	CCDS33015.1	.	.	.	.	.	.	.	.	.	.	T	18.01	3.528063	0.64860	.	.	ENSG00000104824	ENST00000221419;ENST00000388749;ENST00000388750;ENST00000423415;ENST00000536292	.	.	.	5.51	5.51	0.81932	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.61565	0.2357	N	0.17764	0.52	0.80722	D	1	D	0.53151	0.958	D	0.70716	0.97	T	0.61058	-0.7139	9	0.32370	T	0.25	.	14.6052	0.68472	0.0:0.0:0.0:1.0	.	214	P14866	HNRPL_HUMAN	V	214;81;81;81;142	.	ENSP00000221419:I214V	I	-	1	0	HNRNPL	44028200	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.857000	0.62939	2.105000	0.64084	0.455000	0.32223	ATC		0.478	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1			13	44	0	0	0	0	13	44				
ZNF222	7673	broad.mit.edu	37	19	44536636	44536636	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr19:44536636C>A	ENST00000187879.8	+	4	971	c.809C>A	c.(808-810)tCa>tAa	p.S270*	ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Nonsense_Mutation_p.S310*	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	270					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				TGTCTTAGGTCAAGTCTTAAT	0.393																																						uc002oyc.2		NA																	0				ovary(3)	3						c.(808-810)TCA>TAA		zinc finger protein 222 isoform 2							148.0	152.0	151.0					19																	44536636		2203	4300	6503	SO:0001587	stop_gained	7673				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44536636C>A	AF187988	CCDS33045.1, CCDS46098.1	19q13.2	2013-01-08				ENSG00000159885		"""Zinc fingers, C2H2-type"", ""-"""	13015	protein-coding gene	gene with protein product							Standard	NM_013360		Approved		uc002oye.3	Q9UK12		ENST00000187879.8:c.809C>A	19.37:g.44536636C>A	ENSP00000187879:p.Ser270*					ZNF284_uc010ejd.2_Intron|ZNF222_uc002oye.2_Nonsense_Mutation_p.S310*|ZNF222_uc002oyd.2_Nonsense_Mutation_p.S216*	p.S270*	NM_013360	NP_037492	Q9UK12	ZN222_HUMAN			4	992	+		Prostate(69;0.0435)	270			C2H2-type 5.		G5E9B9|Q8N6G7|Q9P1U5	Nonsense_Mutation	SNP	ENST00000187879.8	37	c.809C>A	CCDS33045.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243985	0.79912	.	.	ENSG00000159885	ENST00000391960;ENST00000187879;ENST00000251272	.	.	.	2.79	2.79	0.32731	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7225	0.57149	0.0:1.0:0.0:0.0	.	.	.	.	X	310;270;216	.	ENSP00000187879:S270X	S	+	2	0	ZNF222	49228476	0.000000	0.05858	0.004000	0.12327	0.573000	0.36030	0.066000	0.14489	1.531000	0.49152	0.205000	0.17691	TCA		0.393	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460465.2			34	97	1	0	9.04e-19	1.03e-18	34	97				
HIF3A	64344	broad.mit.edu	37	19	46828852	46828852	+	Missense_Mutation	SNP	G	G	A	rs139513428		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr19:46828852G>A	ENST00000377670.4	+	11	1427	c.1396G>A	c.(1396-1398)Ggg>Agg	p.G466R	HIF3A_ENST00000300862.3_Missense_Mutation_p.G464R|HIF3A_ENST00000244303.6_Missense_Mutation_p.G397R|HIF3A_ENST00000472815.1_Missense_Mutation_p.G397R|HIF3A_ENST00000339613.2_Missense_Mutation_p.G410R|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000600383.1_Missense_Mutation_p.G397R|HIF3A_ENST00000420102.2_Missense_Mutation_p.G415R	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	466	NTAD.|ODD.				cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.G464R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CTTCACCTCCGGGAAAGACAC	0.507																																						uc002peh.2		NA																	1	Substitution - Missense(1)	p.G464R(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(1396-1398)GGG>AGG		hypoxia inducible factor 3, alpha subunit		G	ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	0,4406		0,0,2203	145.0	145.0	145.0		1189,1390,1396,1189	-0.5	0.0	19	dbSNP_134	145	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	HIF3A	NM_022462.4,NM_152794.3,NM_152795.3,NM_152796.2	125,125,125,125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign	397/601,464/668,466/670,397/451	46828852	1,13005	2203	4300	6503	SO:0001583	missense	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46828852G>A	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.1396G>A	19.37:g.46828852G>A	ENSP00000366898:p.Gly466Arg					HIF3A_uc002peg.3_Missense_Mutation_p.G466R|HIF3A_uc010xxx.1_RNA|HIF3A_uc002pei.3_Missense_Mutation_p.G410R|HIF3A_uc002pej.1_Missense_Mutation_p.G397R|HIF3A_uc002pek.2_Missense_Mutation_p.G410R|HIF3A_uc010xxy.1_Missense_Mutation_p.G397R|HIF3A_uc002pel.2_Missense_Mutation_p.G464R|HIF3A_uc010xxz.1_Missense_Mutation_p.G415R	p.G466R	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	11	1425	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	466			NTAD.|ODD.		B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	ENST00000377670.4	37	c.1396G>A	CCDS12681.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.08|10.08	1.253451|1.253451	0.22965|0.22965	0.0|0.0	1.16E-4|1.16E-4	ENSG00000124440|ENSG00000124440	ENST00000244302;ENST00000377670;ENST00000244303;ENST00000339613;ENST00000291300;ENST00000300862;ENST00000420102|ENST00000472815	T;T;T;T;T|.	0.63913|.	0.66;-0.06;0.55;0.66;-0.07|.	4.47|4.47	-0.542|-0.542	0.11854|0.11854	.|.	2.302890|.	0.01809|.	N|.	0.033353|.	T|T	0.20455|0.20455	0.0492|0.0492	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B;B;B;B;B;B|.	0.15719|.	0.011;0.014;0.006;0.013;0.003;0.003;0.007|.	B;B;B;B;B;B;B|.	0.09377|.	0.004;0.002;0.003;0.002;0.001;0.001;0.002|.	T|T	0.28004|0.28004	-1.0057|-1.0057	10|5	0.21014|.	T|.	0.42|.	.|.	5.085|5.085	0.14676|0.14676	0.2011:0.3431:0.4559:0.0|0.2011:0.3431:0.4559:0.0	.|.	415;397;464;415;410;466;466|.	F5H884;B4DNA2;Q9Y2N7-2;B4DSD9;A8MPQ1;Q9Y2N7;B0M185|.	.;.;.;.;.;HIF3A_HUMAN;.|.	R|Q	466;466;397;410;410;464;415|438	ENSP00000366898:G466R;ENSP00000244303:G397R;ENSP00000341877:G410R;ENSP00000300862:G464R;ENSP00000407771:G415R|.	ENSP00000244302:G466R|.	G|R	+|+	1|2	0|0	HIF3A|HIF3A	51520692|51520692	0.068000|0.068000	0.21057|0.21057	0.000000|0.000000	0.03702|0.03702	0.015000|0.015000	0.08874|0.08874	0.273000|0.273000	0.18662|0.18662	-0.065000|-0.065000	0.13021|0.13021	-0.145000|-0.145000	0.13849|0.13849	GGG|CGG		0.507	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3			45	129	0	0	0	0	45	129				
EMP3	2014	broad.mit.edu	37	19	48830823	48830823	+	Missense_Mutation	SNP	G	G	A	rs370992861		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr19:48830823G>A	ENST00000270221.6	+	3	425	c.124G>A	c.(124-126)Gac>Aac	p.D42N	EMP3_ENST00000597279.1_Missense_Mutation_p.D42N|EMP3_ENST00000596315.1_5'UTR	NM_001425.2	NP_001416.1	P54852	EMP3_HUMAN	epithelial membrane protein 3	42					cell growth (GO:0016049)|negative regulation of cell proliferation (GO:0008285)	integral component of membrane (GO:0016021)				lung(1)	1		all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		TCTCTGGTACGACTGCACGTG	0.562																																						uc002piv.2		NA																	0					0						c.(124-126)GAC>AAC		epithelial membrane protein 3		G	ASN/ASP	0,4406		0,0,2203	114.0	81.0	92.0		124	4.5	1.0	19		92	1,8599	1.2+/-3.3	0,1,4299	no	missense	EMP3	NM_001425.2	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	42/164	48830823	1,13005	2203	4300	6503	SO:0001583	missense	2014				cell growth|negative regulation of cell proliferation	integral to membrane		g.chr19:48830823G>A	U52101	CCDS12715.1	19q13.3	2008-07-16				ENSG00000142227			3335	protein-coding gene	gene with protein product		602335				8996089, 10331954	Standard	NM_001425		Approved	YMP	uc002piv.2	P54852		ENST00000270221.6:c.124G>A	19.37:g.48830823G>A	ENSP00000270221:p.Asp42Asn						p.D42N	NM_001425	NP_001416	P54852	EMP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)	3	378	+		all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|Ovarian(192;0.0261)|Breast(70;0.203)	42					Q6FH01	Missense_Mutation	SNP	ENST00000270221.6	37	c.124G>A	CCDS12715.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.883028	0.33255	0.0	1.16E-4	ENSG00000142227	ENST00000270221	D	0.88354	-2.37	4.5	4.5	0.54988	.	0.101870	0.64402	D	0.000003	T	0.66733	0.2819	N	0.00368	-1.59	0.46609	D	0.999128	B	0.28801	0.223	B	0.26969	0.075	T	0.69829	-0.5039	10	0.18276	T	0.48	.	16.4897	0.84197	0.0:0.0:1.0:0.0	.	42	P54852	EMP3_HUMAN	N	42	ENSP00000270221:D42N	ENSP00000270221:D42N	D	+	1	0	EMP3	53522635	1.000000	0.71417	0.989000	0.46669	0.969000	0.65631	4.672000	0.61597	2.506000	0.84524	0.655000	0.94253	GAC		0.562	EMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465613.1	NM_001425		7	32	0	0	0	0	7	32				
SLC6A16	28968	broad.mit.edu	37	19	49813315	49813315	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr19:49813315T>A	ENST00000335875.4	-	4	923	c.682A>T	c.(682-684)Atg>Ttg	p.M228L	SLC6A16_ENST00000454748.3_Missense_Mutation_p.M228L|MIR4324_ENST00000584846.1_RNA	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	228					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		CTAGAGTTCATCGTTAAGGGA	0.468																																						uc002pmz.2		NA																	0				skin(2)|ovary(1)|kidney(1)	4						c.(682-684)ATG>TTG		solute carrier family 6, member 16							92.0	80.0	84.0					19																	49813315		1893	4129	6022	SO:0001583	missense	28968					integral to membrane|intracellular	neurotransmitter:sodium symporter activity	g.chr19:49813315T>A	AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"""Solute carriers"""	13622	protein-coding gene	gene with protein product	"""NTT5 protein"""	607972	"""solute carrier family 6 (neurotransmitter transporter), member 16"""			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.682A>T	19.37:g.49813315T>A	ENSP00000338627:p.Met228Leu					SLC6A16_uc002pna.2_Missense_Mutation_p.M228L|hsa-mir-4324|MI0015854_5'Flank	p.M228L	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)	4	916	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	228			Extracellular (Potential).		Q8IYV4|Q9Y5I9	Missense_Mutation	SNP	ENST00000335875.4	37	c.682A>T	CCDS42590.1	.	.	.	.	.	.	.	.	.	.	T	4.751	0.139604	0.09083	.	.	ENSG00000063127	ENST00000335875;ENST00000454748	T;T	0.73152	-0.72;-0.72	4.58	1.4	0.22301	.	0.789599	0.12212	N	0.489237	T	0.34221	0.0890	N	0.00841	-1.15	0.09310	N	1	B;B	0.21381	0.055;0.055	B;B	0.17433	0.018;0.018	T	0.28776	-1.0033	10	0.16896	T	0.51	.	6.5655	0.22509	0.0:0.2858:0.0:0.7142	.	228;228	Q8IYV4;Q9GZN6	.;S6A16_HUMAN	L	228	ENSP00000338627:M228L;ENSP00000404022:M228L	ENSP00000338627:M228L	M	-	1	0	SLC6A16	54505127	0.001000	0.12720	0.001000	0.08648	0.000000	0.00434	1.171000	0.31896	0.152000	0.19188	-0.274000	0.10170	ATG		0.468	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	NM_014037		28	61	0	0	0	0	28	61				
ZNF616	90317	broad.mit.edu	37	19	52619980	52619980	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr19:52619980G>T	ENST00000600228.1	-	4	698	c.437C>A	c.(436-438)tCa>tAa	p.S146*	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	146					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)		AGCCAGACGTGACTCAAAGTT	0.383																																						uc002pym.2		NA																	0					0						c.(436-438)TCA>TAA		zinc finger protein 616							180.0	164.0	169.0					19																	52619980		2202	4300	6502	SO:0001587	stop_gained	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52619980G>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.437C>A	19.37:g.52619980G>T	ENSP00000471000:p.Ser146*					ZNF616_uc002pyn.2_RNA	p.S146*	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	720	-			146					B3KRV1|Q0P658|Q658V7	Nonsense_Mutation	SNP	ENST00000600228.1	37	c.437C>A	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545091	0.65198	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.38	1.38	0.22167	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.2508	0.31717	0.0:0.0:1.0:0.0	.	.	.	.	X	146	.	ENSP00000328722:S146X	S	-	2	0	ZNF616	57311792	0.001000	0.12720	0.002000	0.10522	0.015000	0.08874	0.631000	0.24568	0.729000	0.32403	0.305000	0.20034	TCA		0.383	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		35	122	1	0	9.04e-19	1.03e-18	35	122				
NLRP4	147945	broad.mit.edu	37	19	56388492	56388492	+	Missense_Mutation	SNP	C	C	T	rs147716168		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr19:56388492C>T	ENST00000301295.6	+	8	3078	c.2656C>T	c.(2656-2658)Cgg>Tgg	p.R886W	NLRP4_ENST00000587891.1_Missense_Mutation_p.R811W|NLRP4_ENST00000346986.5_Missense_Mutation_p.R830W	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	886					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.R886W(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GCTGTTGTGTCGGGCTCTGAC	0.498													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20933	0.0		0.0	False		,,,				2504	0.0					uc002qmd.3		NA																	1	Substitution - Missense(1)	p.R886W(1)	upper_aerodigestive_tract(1)	ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(2656-2658)CGG>TGG		NLR family, pyrin domain containing 4		C	TRP/ARG	0,4406		0,0,2203	204.0	194.0	198.0		2656	-0.8	0.0	19	dbSNP_134	198	1,8599	1.2+/-3.3	0,1,4299	no	missense	NLRP4	NM_134444.4	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	886/995	56388492	1,13005	2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56388492C>T	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2656C>T	19.37:g.56388492C>T	ENSP00000301295:p.Arg886Trp					NLRP4_uc002qmf.2_Missense_Mutation_p.R811W|NLRP4_uc010etf.2_Missense_Mutation_p.R661W	p.R886W	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	8	3078	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	886			LRR 6.		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.2656C>T	CCDS12936.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	14.12	2.440920	0.43326	0.0	1.16E-4	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.46451	0.87;0.87	3.91	-0.796	0.10912	.	.	.	.	.	T	0.42988	0.1227	L	0.61036	1.89	0.09310	N	1	P;P;P	0.52316	0.901;0.899;0.952	B;P;P	0.49301	0.123;0.599;0.606	T	0.34675	-0.9819	9	0.87932	D	0	.	4.6632	0.12652	0.2055:0.3526:0.442:0.0	.	830;811;886	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	W	886;830	ENSP00000301295:R886W;ENSP00000344787:R830W	ENSP00000301295:R886W	R	+	1	2	NLRP4	61080304	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.032000	0.13732	-0.117000	0.11872	-0.211000	0.12701	CGG		0.498	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		38	108	0	0	0	0	38	108				
PEG3	5178	broad.mit.edu	37	19	57325894	57325894	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr19:57325894T>G	ENST00000326441.9	-	10	4279	c.3916A>C	c.(3916-3918)Aat>Cat	p.N1306H	PEG3_ENST00000593695.1_Missense_Mutation_p.N1180H|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.N1182H|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.N1306H	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1306					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.N1306H(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TAGGGCTCATTCTTATGAACA	0.448																																						uc002qnu.2		NA																	2	Substitution - Missense(2)	p.N1306H(2)	upper_aerodigestive_tract(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(3916-3918)AAT>CAT		paternally expressed 3 isoform 1							103.0	97.0	99.0					19																	57325894		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57325894T>G	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3916A>C	19.37:g.57325894T>G	ENSP00000326581:p.Asn1306His					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.N1277H|PEG3_uc002qnv.2_Missense_Mutation_p.N1306H|PEG3_uc002qnw.2_Missense_Mutation_p.N1182H|PEG3_uc002qnx.2_Missense_Mutation_p.N1180H|PEG3_uc010etr.2_Missense_Mutation_p.N1306H	p.N1306H	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	4267	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1306					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.3916A>C	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	T	10.51	1.371365	0.24771	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02682	4.2;4.2	4.33	1.85	0.25348	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.496939	0.17311	N	0.178892	T	0.02342	0.0072	L	0.37697	1.125	.	.	.	B;P;P	0.49559	0.007;0.906;0.925	B;B;B	0.37888	0.003;0.188;0.26	T	0.40478	-0.9561	9	0.66056	D	0.02	-7.3832	5.5955	0.17325	0.0:0.6718:0.1836:0.1446	.	1182;1306;1241	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	H	1306	ENSP00000326581:N1306H;ENSP00000403051:N1306H	ENSP00000326581:N1306H	N	-	1	0	ZIM2	62017706	0.632000	0.27172	0.008000	0.14137	0.743000	0.42351	2.680000	0.46918	0.512000	0.28257	-0.250000	0.11733	AAT		0.448	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			18	52	0	0	0	0	18	52				
USP34	9736	broad.mit.edu	37	2	61415337	61415337	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr2:61415337A>G	ENST00000398571.2	-	80	10617	c.10541T>C	c.(10540-10542)aTg>aCg	p.M3514T	AHSA2_ENST00000394457.3_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3514					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ATGTTGCTGCATATGACTAAA	0.468																																						uc002sbe.2		NA																	0				ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(10540-10542)ATG>ACG		ubiquitin specific protease 34							80.0	76.0	77.0					2																	61415337		1891	4120	6011	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61415337A>G	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.10541T>C	2.37:g.61415337A>G	ENSP00000381577:p.Met3514Thr					USP34_uc002sbd.2_Missense_Mutation_p.M316T	p.M3514T	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		80	10563	-			3514					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.10541T>C	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	.	3.185	-0.167169	0.06461	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571;ENST00000436269	T	0.03212	4.01	5.52	4.23	0.50019	.	0.324355	0.39083	N	0.001479	T	0.03095	0.0091	N	0.19112	0.55	0.30221	N	0.796848	B	0.02656	0.0	B	0.01281	0.0	T	0.13818	-1.0495	10	0.66056	D	0.02	.	9.4955	0.38986	0.8451:0.0:0.1549:0.0	.	3514	Q70CQ2	UBP34_HUMAN	T	3362;3279;3514;392	ENSP00000381577:M3514T	ENSP00000263989:M3362T	M	-	2	0	USP34	61268841	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.222000	0.42926	0.902000	0.36520	0.482000	0.46254	ATG		0.468	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			16	68	0	0	0	0	16	68				
ERCC3	2071	broad.mit.edu	37	2	128044295	128044295	+	Silent	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr2:128044295T>C	ENST00000285398.2	-	8	1420	c.1326A>G	c.(1324-1326)gaA>gaG	p.E442E	ERCC3_ENST00000493187.2_Silent_p.E378E	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	442	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TGGTGTGCACTTCATCCAGGA	0.557			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002toh.1		NA	yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	Mis|S	"""excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"""			E		skin basal cell|skin squamous cell|melanoma			0				ovary(2)|lung(2)|breast(2)|kidney(1)	7						c.(1324-1326)GAA>GAG	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							93.0	90.0	91.0					2																	128044295		2203	4300	6503	SO:0001819	synonymous_variant	2071	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	g.chr2:128044295T>C	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	3435	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group B complementing"""	133510	"""excision repair cross-complementing rodent repair deficiency, complementation group 3"""			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.1326A>G	2.37:g.128044295T>C						ERCC3_uc002toe.1_Silent_p.E197E|ERCC3_uc002tof.1_Silent_p.E378E|ERCC3_uc002tog.1_Silent_p.E378E|ERCC3_uc010flx.1_Silent_p.E197E	p.E442E	NM_000122	NP_000113	P19447	ERCC3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	8	1421	-	Colorectal(110;0.1)		442			Helicase ATP-binding.|DEVH box.		Q53QM0	Silent	SNP	ENST00000285398.2	37	c.1326A>G	CCDS2144.1																																																																																				0.557	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122		23	84	0	0	0	0	23	84				
LRP1B	53353	broad.mit.edu	37	2	141081531	141081531	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr2:141081531C>A	ENST00000389484.3	-	81	13416	c.12445G>T	c.(12445-12447)Gag>Tag	p.E4149*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4149					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)	p.E4149*(1)		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)		GCTAAGTACTCTACTGAACCA	0.289										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	1	Substitution - Nonsense(1)	p.E4149*(1)	upper_aerodigestive_tract(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(12445-12447)GAG>TAG		low density lipoprotein-related protein 1B							65.0	73.0	70.0					2																	141081531		2203	4286	6489	SO:0001587	stop_gained	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141081531C>A	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.12445G>T	2.37:g.141081531C>A	ENSP00000374135:p.Glu4149*	TSP Lung(27;0.18)					p.E4149*	NM_018557	NP_061027	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)	81	13417	-		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)	4149			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Nonsense_Mutation	SNP	ENST00000389484.3	37	c.12445G>T	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	57|57	29.226833|29.226833	0.99975|0.99975	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	.|.	.|.	.|.	5.37|5.37	3.53|3.53	0.40419|0.40419	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.19590|.	T|.	0.45|.	.|.	10.9646|10.9646	0.47406|0.47406	0.0:0.7992:0.1304:0.0704|0.0:0.7992:0.1304:0.0704	.|.	.|.	.|.	.|.	X|Y	4149;4087|380	.|.	ENSP00000374135:E4149X|.	E|X	-|-	1|3	0|2	LRP1B|LRP1B	140798001|140798001	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	5.717000|5.717000	0.68446|0.68446	0.724000|0.724000	0.32296|0.32296	0.655000|0.655000	0.94253|0.94253	GAG|TAG		0.289	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		21	55	1	0	7.45e-12	8.38e-12	21	55				
LRP1B	53353	broad.mit.edu	37	2	141625820	141625821	+	Missense_Mutation	DNP	CC	CC	GG			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr2:141625820_141625821CC>GG	ENST00000389484.3	-	26	5152_5153	c.4181_4182GG>CC	c.(4180-4182)tGG>tCC	p.W1394S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1394					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)		CCCAGTCTGTCCAGAAAAGAAT	0.356										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(4180-4182)TGG>TCC		low density lipoprotein-related protein 1B																																				SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141625820_141625821CC>GG	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.4181_4182delinsGG	2.37:g.141625820_141625821delinsGG	ENSP00000374135:p.Trp1394Ser	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Missense_Mutation_p.W576S	p.W1394S	NM_018557	NP_061027	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)	26	5153_5154	-		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)	1394			Extracellular (Potential).|LDL-receptor class B 11.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	DNP	ENST00000389484.3	37	c.4181_4182GG>CC	CCDS2182.1																																																																																				0.356	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		9	33	0	0	0	0	9	33				
ZEB2	9839	broad.mit.edu	37	2	145156648	145156648	+	Silent	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr2:145156648A>G	ENST00000558170.2	-	8	3290	c.2106T>C	c.(2104-2106)aaT>aaC	p.N702N	ZEB2_ENST00000539609.3_Silent_p.N678N|ZEB2_ENST00000303660.4_Silent_p.N702N|ZEB2_ENST00000409487.3_Silent_p.N702N	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	702					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GGGACCTGGAATTTGAGTACT	0.463																																					Melanoma(33;1235 1264 5755 16332)	uc002tvu.2		NA																	0				ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9						c.(2104-2106)AAT>AAC		zinc finger homeobox 1b							154.0	162.0	160.0					2																	145156648		2203	4300	6503	SO:0001819	synonymous_variant	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145156648A>G	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.2106T>C	2.37:g.145156648A>G						ZEB2_uc002tvv.2_Silent_p.N696N|ZEB2_uc010zbm.1_Silent_p.N673N|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Silent_p.N731N	p.N702N	NM_014795	NP_055610	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	2586	-			702			Homeobox; atypical.		A0JP09|B7Z2P2|F5H814|Q9UED1	Silent	SNP	ENST00000558170.2	37	c.2106T>C	CCDS2186.1																																																																																				0.463	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		48	155	0	0	0	0	48	155				
EPC2	26122	broad.mit.edu	37	2	149526743	149526743	+	Silent	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr2:149526743G>A	ENST00000258484.6	+	8	1198	c.1164G>A	c.(1162-1164)ccG>ccA	p.P388P		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	388					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		TATCAGAACCGGAAGAAGAAA	0.388																																						uc010zbt.1		NA																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(1162-1164)CCG>CCA		enhancer of polycomb homolog 2							83.0	81.0	82.0					2																	149526743		1866	4110	5976	SO:0001819	synonymous_variant	26122				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:149526743G>A	AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.1164G>A	2.37:g.149526743G>A							p.P388P	NM_015630	NP_056445	Q52LR7	EPC2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0516)	8	1191	+			388					B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Silent	SNP	ENST00000258484.6	37	c.1164G>A	CCDS46422.1																																																																																				0.388	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1	NM_015630		7	14	0	0	0	0	7	14				
PGAP1	80055	broad.mit.edu	37	2	197738421	197738421	+	Silent	SNP	C	C	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr2:197738421C>G	ENST00000354764.4	-	15	1602	c.1488G>C	c.(1486-1488)ctG>ctC	p.L496L	PGAP1_ENST00000409475.1_Silent_p.L496L	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	496					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						GTCCAAAGTTCAGAAGCTCTA	0.294																																						uc002utw.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(1486-1488)CTG>CTC		GPI deacylase							96.0	100.0	99.0					2																	197738421		2203	4287	6490	SO:0001819	synonymous_variant	80055				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity	g.chr2:197738421C>G		CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.1488G>C	2.37:g.197738421C>G						PGAP1_uc002utx.2_Silent_p.L322L|PGAP1_uc002uty.1_Silent_p.L496L	p.L496L	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN			15	1602	-			496			Lumenal (Potential).		Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Silent	SNP	ENST00000354764.4	37	c.1488G>C	CCDS2318.1																																																																																				0.294	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989		15	48	0	0	0	0	15	48				
SF3B1	23451	broad.mit.edu	37	2	198285204	198285204	+	Silent	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr2:198285204C>T	ENST00000335508.6	-	4	454	c.363G>A	c.(361-363)aaG>aaA	p.K121K	SF3B1_ENST00000487698.1_Silent_p.K121K|SF3B1_ENST00000414963.2_Silent_p.K121K|SF3B1_ENST00000409915.4_Silent_p.K121K	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	121					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TCCGCCTATGCTTTTTGTATT	0.373			Mis		myelodysplastic syndrome																																	uc002uue.2		NA		Dom	yes		2	2q33.1	23451		"""splicing factor 3b, subunit 1, 155kDa"""			L					0				pancreas(3)|ovary(1)|breast(1)|skin(1)	6						c.(361-363)AAG>AAA		splicing factor 3b, subunit 1 isoform 1							180.0	177.0	178.0					2																	198285204		2203	4300	6503	SO:0001819	synonymous_variant	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198285204C>T	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.363G>A	2.37:g.198285204C>T						SF3B1_uc010fsk.1_RNA|SF3B1_uc002uuf.2_Silent_p.K121K|SF3B1_uc002uug.2_Silent_p.K121K	p.K121K	NM_012433	NP_036565	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		4	411	-			121					E9PCH3	Silent	SNP	ENST00000335508.6	37	c.363G>A	CCDS33356.1																																																																																				0.373	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			23	49	0	0	0	0	23	49				
PSMD1	5707	broad.mit.edu	37	2	231944262	231944262	+	Silent	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr2:231944262A>G	ENST00000308696.6	+	11	1335	c.1173A>G	c.(1171-1173)gaA>gaG	p.E391E	PSMD1_ENST00000373635.4_Silent_p.E391E|PSMD1_ENST00000409643.1_Silent_p.E391E	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	391					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	ATAATTTGGAATGGTTAGCCA	0.313																																						uc002vrn.1		NA																	0				ovary(1)|skin(1)	2						c.(1171-1173)GAA>GAG		proteasome 26S non-ATPase subunit 1	Bortezomib(DB00188)						73.0	76.0	75.0					2																	231944262		2203	4300	6503	SO:0001819	synonymous_variant	5707				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr2:231944262A>G	D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.1173A>G	2.37:g.231944262A>G						PSMD1_uc002vrm.1_Silent_p.E391E|PSMD1_uc010fxu.1_Silent_p.E255E	p.E391E	NM_002807	NP_002798	Q99460	PSMD1_HUMAN		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	11	1304	+		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)	391					B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Silent	SNP	ENST00000308696.6	37	c.1173A>G	CCDS2482.1																																																																																				0.313	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2			6	21	0	0	0	0	6	21				
INPP5D	3635	broad.mit.edu	37	2	233925301	233925301	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr2:233925301G>A	ENST00000359570.5	+	1	113	c.113G>A	c.(112-114)cGg>cAg	p.R38Q	INPP5D_ENST00000538935.1_Missense_Mutation_p.R38Q			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	38	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TCCATCTCCCGGGCATACGCG	0.617																																					NSCLC(82;1215 1426 16163 20348 41018)	uc010zmo.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(112-114)CGG>CAG		SH2 containing inositol phosphatase isoform a							46.0	51.0	50.0					2																	233925301		2088	4207	6295	SO:0001583	missense	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:233925301G>A	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.113G>A	2.37:g.233925301G>A	ENSP00000352575:p.Arg38Gln					INPP5D_uc010zmp.1_Missense_Mutation_p.R38Q	p.R38Q	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	1	266	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	38			SH2.		O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37	c.113G>A		.	.	.	.	.	.	.	.	.	.	G	19.03	3.747547	0.69533	.	.	ENSG00000168918	ENST00000422935;ENST00000451407;ENST00000359570;ENST00000538935	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36	4.68	3.8	0.43715	SH2 motif (4);	0.376195	0.26971	N	0.021575	D	0.89269	0.6667	.	.	.	0.26993	N	0.965082	P;D	0.56968	0.91;0.978	B;P	0.51415	0.317;0.669	T	0.82859	-0.0249	9	0.59425	D	0.04	.	9.2719	0.37677	0.0866:0.1895:0.724:0.0	.	38;38	Q92835-2;Q92835	.;SHIP1_HUMAN	Q	38	ENSP00000409018:R38Q;ENSP00000415253:R38Q;ENSP00000352575:R38Q;ENSP00000441010:R38Q	ENSP00000352575:R38Q	R	+	2	0	INPP5D	233633545	0.999000	0.42202	1.000000	0.80357	0.984000	0.73092	4.646000	0.61411	0.982000	0.38575	0.485000	0.47835	CGG		0.617	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		15	57	0	0	0	0	15	57				
ASB1	51665	broad.mit.edu	37	2	239344474	239344474	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr2:239344474A>G	ENST00000264607.4	+	3	561	c.314A>G	c.(313-315)gAt>gGt	p.D105G	ASB1_ENST00000409297.1_Intron|ASB1_ENST00000469885.1_3'UTR	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	105					intracellular signal transduction (GO:0035556)|male genitalia development (GO:0030539)|negative regulation of cytokine biosynthetic process (GO:0042036)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		GCCGAGGTGGATCTGGTGGAC	0.627																																						uc002vyg.2		NA																	0					0						c.(313-315)GAT>GGT		ankyrin repeat and SOCS box-containing protein							63.0	59.0	61.0					2																	239344474		2203	4300	6503	SO:0001583	missense	51665				intracellular signal transduction|negative regulation of cytokine biosynthetic process			g.chr2:239344474A>G	AF156777	CCDS33416.1	2q37	2013-01-10	2011-01-25		ENSG00000065802	ENSG00000065802		"""Ankyrin repeat domain containing"""	16011	protein-coding gene	gene with protein product		605758	"""ankyrin repeat and SOCS box-containing 1"""				Standard	XR_241235		Approved	ASB-1	uc002vyg.3	Q9Y576	OTTHUMG00000152866	ENST00000264607.4:c.314A>G	2.37:g.239344474A>G	ENSP00000264607:p.Asp105Gly						p.D105G	NM_001040445	NP_001035535	Q9Y576	ASB1_HUMAN		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)	3	400	+		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	105			ANK 2.		A6NL50|Q4ZG29|Q9ULS4	Missense_Mutation	SNP	ENST00000264607.4	37	c.314A>G	CCDS33416.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.844481	0.51164	.	.	ENSG00000065802	ENST00000264607	T	0.55413	0.52	5.58	5.58	0.84498	Ankyrin repeat-containing domain (4);	0.043911	0.85682	D	0.000000	T	0.71307	0.3324	M	0.74258	2.255	0.80722	D	1	D	0.67145	0.996	D	0.65773	0.938	T	0.75269	-0.3377	10	0.72032	D	0.01	.	15.7458	0.77939	1.0:0.0:0.0:0.0	.	105	Q9Y576	ASB1_HUMAN	G	105	ENSP00000264607:D105G	ENSP00000264607:D105G	D	+	2	0	ASB1	239009213	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.428000	0.90278	2.124000	0.65301	0.528000	0.53228	GAT		0.627	ASB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328294.1	NM_001040445		12	29	0	0	0	0	12	29				
VPS16	64601	broad.mit.edu	37	20	2844895	2844895	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr20:2844895C>T	ENST00000380445.3	+	17	1754	c.1682C>T	c.(1681-1683)gCa>gTa	p.A561V	VPS16_ENST00000380469.3_Missense_Mutation_p.A417V|VPS16_ENST00000380443.3_Missense_Mutation_p.A247V|PTPRA_ENST00000380393.3_5'UTR	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	561					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						AGCAAACTGGCACTAAGCAAG	0.602																																						uc002whe.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1681-1683)GCA>GTA		vacuolar protein sorting 16 isoform 1							47.0	46.0	46.0					20																	2844895		2203	4300	6503	SO:0001583	missense	64601				intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		g.chr20:2844895C>T	AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.1682C>T	20.37:g.2844895C>T	ENSP00000369810:p.Ala561Val					VPS16_uc002whh.2_RNA|PTPRA_uc002whj.2_5'UTR|VPS16_uc002whf.2_Missense_Mutation_p.A417V|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_Missense_Mutation_p.A247V|VPS16_uc002whi.2_Missense_Mutation_p.A45V	p.A561V	NM_022575	NP_072097	Q9H269	VPS16_HUMAN			17	1730	+			561					Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP	ENST00000380445.3	37	c.1682C>T	CCDS13036.1	.	.	.	.	.	.	.	.	.	.	C	32	5.110847	0.94292	.	.	ENSG00000215305	ENST00000380445;ENST00000380469;ENST00000380443	T;T;T	0.68181	-0.31;-0.31;-0.31	5.2	5.2	0.72013	Vps16, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.82669	0.5087	M	0.89414	3.03	0.80722	D	1	P;P;D;D	0.57899	0.952;0.952;0.976;0.981	P;P;P;P	0.60236	0.73;0.821;0.853;0.871	D	0.86005	0.1497	10	0.87932	D	0	-11.9204	16.2695	0.82607	0.0:1.0:0.0:0.0	.	37;247;417;561	A1A4H0;Q5JUA8;Q9H269-2;Q9H269	.;.;.;VPS16_HUMAN	V	561;417;247	ENSP00000369810:A561V;ENSP00000369836:A417V;ENSP00000369808:A247V	ENSP00000369808:A247V	A	+	2	0	VPS16	2792895	1.000000	0.71417	0.995000	0.50966	0.962000	0.63368	6.839000	0.75364	2.706000	0.92434	0.561000	0.74099	GCA		0.602	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575		14	41	0	0	0	0	14	41				
CABIN1	23523	broad.mit.edu	37	22	24432587	24432587	+	Silent	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr22:24432587A>G	ENST00000398319.2	+	3	439	c.54A>G	c.(52-54)gaA>gaG	p.E18E	CABIN1_ENST00000263119.5_Silent_p.E18E|CABIN1_ENST00000405822.2_Silent_p.E18E	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	18					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ATGATCATGAAGGAAGCTTTA	0.453																																						uc002zzi.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(52-54)GAA>GAG		calcineurin binding protein 1							227.0	220.0	222.0					22																	24432587		2203	4300	6503	SO:0001819	synonymous_variant	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24432587A>G	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.54A>G	22.37:g.24432587A>G						CABIN1_uc002zzj.1_Silent_p.E18E|CABIN1_uc002zzl.1_Silent_p.E18E|CABIN1_uc010guk.1_Silent_p.E18E|CABIN1_uc002zzk.1_Silent_p.E18E	p.E18E	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN			3	181	+			18					G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	ENST00000398319.2	37	c.54A>G	CCDS13823.1																																																																																				0.453	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		76	174	0	0	0	0	76	174				
DNAJB7	150353	broad.mit.edu	37	22	41257490	41257490	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr22:41257490G>C	ENST00000307221.4	-	1	640	c.509C>G	c.(508-510)tCt>tGt	p.S170C	XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000544094.1_5'Flank|XPNPEP3_ENST00000541156.1_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	170							chaperone binding (GO:0051087)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						GGAAGAGAAAGAAGTAAGGCC	0.353																																						uc003azj.2		NA																	0				ovary(1)	1						c.(508-510)TCT>TGT		DnaJ (Hsp40) homolog, subfamily B, member 7							91.0	92.0	91.0					22																	41257490		2203	4300	6503	SO:0001583	missense	150353				protein folding		heat shock protein binding|unfolded protein binding	g.chr22:41257490G>C	AF085232	CCDS14008.1	22q13.2	2011-09-02			ENSG00000172404	ENSG00000172404		"""Heat shock proteins / DNAJ (HSP40)"""	24986	protein-coding gene	gene with protein product		611336				12477932	Standard	NM_145174		Approved	HSC3	uc003azj.3	Q7Z6W7	OTTHUMG00000151202	ENST00000307221.4:c.509C>G	22.37:g.41257490G>C	ENSP00000307197:p.Ser170Cys					XPNPEP3_uc011aox.1_Intron|XPNPEP3_uc003azh.2_Intron|XPNPEP3_uc003azi.2_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azg.1_Intron|XPNPEP3_uc003azf.1_Intron|XPNPEP3_uc010gyh.1_5'Flank	p.S170C	NM_145174	NP_660157	Q7Z6W7	DNJB7_HUMAN			1	641	-			170					Q2M220|Q5H904|Q8WYJ7	Missense_Mutation	SNP	ENST00000307221.4	37	c.509C>G	CCDS14008.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.316727	0.40996	.	.	ENSG00000172404	ENST00000307221	T	0.76968	-1.06	4.7	3.68	0.42216	.	0.167850	0.28088	N	0.016658	T	0.79678	0.4487	M	0.87617	2.895	0.80722	D	1	B	0.34241	0.444	B	0.35607	0.206	T	0.81125	-0.1075	10	0.49607	T	0.09	.	11.2929	0.49261	0.0893:0.0:0.9107:0.0	.	170	Q7Z6W7	DNJB7_HUMAN	C	170	ENSP00000307197:S170C	ENSP00000307197:S170C	S	-	2	0	DNAJB7	39587436	0.505000	0.26131	0.788000	0.31933	0.263000	0.26337	1.463000	0.35277	1.586000	0.49944	0.591000	0.81541	TCT		0.353	DNAJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321765.1	NM_145174		14	58	0	0	0	0	14	58				
KIAA1644	85352	broad.mit.edu	37	22	44681438	44681438	+	Missense_Mutation	SNP	G	G	A	rs552627791	byFrequency	TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr22:44681438G>A	ENST00000381176.4	-	4	601	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	157						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				TGACCCGGCCGAGGGGCCCGA	0.697																																						uc003bet.2		NA																	0				ovary(1)	1						c.(469-471)CGG>TGG		hypothetical protein LOC85352 precursor							37.0	41.0	40.0					22																	44681438		1916	4124	6040	SO:0001583	missense	85352					integral to membrane		g.chr22:44681438G>A	AB051431	CCDS43025.1	22q13	2009-02-06	2009-02-06		ENSG00000138944	ENSG00000138944			29335	protein-coding gene	gene with protein product						11258795	Standard	NM_001099294		Approved		uc003bet.2	Q3SXP7	OTTHUMG00000030991	ENST00000381176.4:c.469C>T	22.37:g.44681438G>A	ENSP00000370568:p.Arg157Trp						p.R157W	NM_001099294	NP_001092764	Q3SXP7	K1644_HUMAN			4	602	-		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)	157			Cytoplasmic (Potential).		A6NHP0|A9Z1Z0|Q3SXP8|Q5JZ71|Q9BYB5	Missense_Mutation	SNP	ENST00000381176.4	37	c.469C>T	CCDS43025.1	.	.	.	.	.	.	.	.	.	.	G	6.127	0.391756	0.11581	.	.	ENSG00000138944	ENST00000381176	.	.	.	3.99	1.64	0.23874	.	1.337600	0.04745	N	0.423593	T	0.15955	0.0384	N	0.14661	0.345	0.32496	N	0.539466	D	0.54772	0.968	B	0.33042	0.157	T	0.26815	-1.0092	8	0.87932	D	0	-8.8065	7.3602	0.26742	0.0:0.1466:0.5974:0.256	.	157	Q3SXP7	K1644_HUMAN	W	157	.	ENSP00000370568:R157W	R	-	1	2	KIAA1644	43012771	0.995000	0.38212	0.152000	0.22495	0.023000	0.10783	2.701000	0.47094	0.801000	0.34066	-0.304000	0.09214	CGG		0.697	KIAA1644-006	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075879.2	NM_001099294		21	67	0	0	0	0	21	67				
PKDREJ	10343	broad.mit.edu	37	22	46658432	46658432	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr22:46658432G>A	ENST00000253255.5	-	1	787	c.788C>T	c.(787-789)tCc>tTc	p.S263F		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	263	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GGCGGGCACGGAGAACACCTG	0.667																																						uc003bhh.2		NA																	0				breast(3)|ovary(2)	5						c.(787-789)TCC>TTC		receptor for egg jelly-like protein precursor							27.0	34.0	32.0					22																	46658432		2196	4280	6476	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46658432G>A	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.788C>T	22.37:g.46658432G>A	ENSP00000253255:p.Ser263Phe						p.S263F	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	788	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	263			Extracellular (Potential).|REJ.		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.788C>T	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889006	0.52014	.	.	ENSG00000130943	ENST00000253255	T	0.72505	-0.66	4.15	1.75	0.24633	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	1.326220	0.05233	N	0.510804	T	0.77170	0.4091	L	0.50333	1.59	0.09310	N	1	D	0.61697	0.99	P	0.59357	0.856	T	0.61282	-0.7094	10	0.66056	D	0.02	-3.557	7.9836	0.30198	0.0:0.3159:0.5187:0.1654	.	263	Q9NTG1	PKDRE_HUMAN	F	263	ENSP00000253255:S263F	ENSP00000253255:S263F	S	-	2	0	PKDREJ	45037096	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.182000	0.16900	0.829000	0.34733	0.505000	0.49811	TCC		0.667	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		9	63	0	0	0	0	9	63				
PKDREJ	10343	broad.mit.edu	37	22	46658434	46658434	+	Silent	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr22:46658434G>A	ENST00000253255.5	-	1	785	c.786C>T	c.(784-786)ttC>ttT	p.F262F		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	262	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CGGGCACGGAGAACACCTGCC	0.677																																						uc003bhh.2		NA																	0				breast(3)|ovary(2)	5						c.(784-786)TTC>TTT		receptor for egg jelly-like protein precursor							27.0	34.0	32.0					22																	46658434		2198	4281	6479	SO:0001819	synonymous_variant	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46658434G>A	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.786C>T	22.37:g.46658434G>A							p.F262F	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	786	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	262			Extracellular (Potential).|REJ.		B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	c.786C>T	CCDS14073.1																																																																																				0.677	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		9	60	0	0	0	0	9	60				
KIF9	64147	broad.mit.edu	37	3	47284589	47284589	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr3:47284589A>G	ENST00000265529.3	-	17	2341	c.1661T>C	c.(1660-1662)aTt>aCt	p.I554T	KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000335044.2_Missense_Mutation_p.I554T|KIF9_ENST00000352910.4_Intron|KIF9_ENST00000452770.2_Missense_Mutation_p.I554T|KIF9_ENST00000444589.2_Intron			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	554					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AAGGGGCTCAATGCTGGAAGT	0.498																																					Colon(44;962 1147 15977 24541)	uc010hjp.2		NA																	0				skin(1)	1						c.(1660-1662)ATT>ACT		kinesin family member 9 isoform 2							111.0	101.0	104.0					3																	47284589		2203	4300	6503	SO:0001583	missense	64147				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr3:47284589A>G	AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"""Kinesins"""	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.1661T>C	3.37:g.47284589A>G	ENSP00000265529:p.Ile554Thr					KIF9_uc003cqx.2_Missense_Mutation_p.I554T|KIF9_uc003cqy.2_Intron|KIF9_uc011bat.1_Intron|uc003cqw.1_RNA	p.I554T	NM_001134878	NP_001128350	Q9HAQ2	KIF9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	17	2265	-		Acute lymphoblastic leukemia(5;0.164)	554					Q86Z28|Q9H8A4	Missense_Mutation	SNP	ENST00000265529.3	37	c.1661T>C	CCDS2752.1	.	.	.	.	.	.	.	.	.	.	A	9.870	1.198711	0.22121	.	.	ENSG00000088727	ENST00000335044;ENST00000265529;ENST00000452770	T;T;T	0.48201	0.82;0.82;0.82	5.69	-7.09	0.01553	.	1.140900	0.06255	N	0.692819	T	0.31389	0.0795	L	0.36672	1.1	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.33085	-0.9882	10	0.13853	T	0.58	.	11.069	0.47993	0.2559:0.1358:0.6083:0.0	.	554	Q9HAQ2	KIF9_HUMAN	T	554	ENSP00000333942:I554T;ENSP00000265529:I554T;ENSP00000391100:I554T	ENSP00000265529:I554T	I	-	2	0	KIF9	47259593	0.000000	0.05858	0.005000	0.12908	0.826000	0.46750	-0.561000	0.05957	-0.801000	0.04427	0.459000	0.35465	ATT		0.498	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257475.2			16	41	0	0	0	0	16	41				
P4HTM	54681	broad.mit.edu	37	3	49042401	49042401	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr3:49042401G>A	ENST00000383729.4	+	6	1366	c.995G>A	c.(994-996)gGg>gAg	p.G332E	WDR6_ENST00000608424.1_5'Flank|WDR6_ENST00000395474.3_5'Flank|P4HTM_ENST00000343546.4_Missense_Mutation_p.G332E|WDR6_ENST00000415265.2_5'Flank|WDR6_ENST00000448293.1_5'Flank	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	332	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	GTGGACAGTGGGCCTGTGTAC	0.617																																						uc003cvg.2		NA																	0				skin(1)|pancreas(1)	2						c.(994-996)GGG>GAG		hypoxia-inducible factor prolyl 4-hydroxylase	Vitamin C(DB00126)						132.0	102.0	112.0					3																	49042401		2203	4300	6503	SO:0001583	missense	54681					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr3:49042401G>A		CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"""Prolyl hydroxlase domain-containing 4"", ""hypoxia inducible factor prolyl 4 hydroxylase"""	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.995G>A	3.37:g.49042401G>A	ENSP00000373235:p.Gly332Glu					P4HTM_uc003cvh.2_Missense_Mutation_p.G332E|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank	p.G332E	NM_177939	NP_808808	Q9NXG6	P4HTM_HUMAN			6	1344	+			332			Lumenal (Potential).|Fe2OG dioxygenase.		Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Missense_Mutation	SNP	ENST00000383729.4	37	c.995G>A	CCDS43089.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.381232	0.82792	.	.	ENSG00000178467	ENST00000383729;ENST00000343546	T	0.58060	0.36	5.29	5.29	0.74685	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.050531	0.85682	D	0.000000	T	0.60495	0.2273	L	0.33137	0.985	0.58432	D	0.999991	P;D	0.55800	0.912;0.973	P;P	0.62089	0.76;0.898	T	0.53774	-0.8391	10	0.22706	T	0.39	-21.7972	19.0165	0.92897	0.0:0.0:1.0:0.0	.	332;332	Q9NXG6-3;Q9NXG6	.;P4HTM_HUMAN	E	332	ENSP00000373235:G332E	ENSP00000341422:G332E	G	+	2	0	P4HTM	49017405	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.418000	0.80167	2.491000	0.84063	0.650000	0.86243	GGG		0.617	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157211.1	NM_177938		26	48	0	0	0	0	26	48				
USP19	10869	broad.mit.edu	37	3	49155121	49155121	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr3:49155121G>C	ENST00000398888.2	-	4	759	c.441C>G	c.(439-441)ttC>ttG	p.F147L	USP19_ENST00000488993.1_5'UTR|USP19_ENST00000417901.1_Missense_Mutation_p.F147L|USP19_ENST00000453664.1_Missense_Mutation_p.F147L|USP19_ENST00000398892.3_Missense_Mutation_p.F85L|USP19_ENST00000434032.2_Missense_Mutation_p.F147L|USP19_ENST00000398896.1_5'UTR|USP19_ENST00000398898.2_Missense_Mutation_p.F85L	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	147	CS 1. {ECO:0000255|PROSITE- ProRule:PRU00547}.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ctgtatctgtgaaagcagcat	0.502																																						uc003cwd.1		NA																	0				ovary(4)|breast(2)|lung(1)	7						c.(439-441)TTC>TTG		ubiquitin thioesterase 19							120.0	133.0	128.0					3																	49155121		2146	4260	6406	SO:0001583	missense	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49155121G>C	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.441C>G	3.37:g.49155121G>C	ENSP00000381863:p.Phe147Leu					USP19_uc003cwa.2_5'UTR|USP19_uc003cvz.3_Missense_Mutation_p.F147L|USP19_uc011bcg.1_Missense_Mutation_p.F147L|USP19_uc003cwb.2_Missense_Mutation_p.F132L|USP19_uc003cwc.1_5'Flank|USP19_uc011bch.1_Missense_Mutation_p.F147L|USP19_uc011bci.1_Missense_Mutation_p.F132L	p.F147L	NM_006677	NP_006668	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	4	602	-			147			Cytoplasmic (Potential).|CS 1.		A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	c.441C>G	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.897280	0.52121	.	.	ENSG00000172046	ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032;ENST00000306026;ENST00000425298	T;T;T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52;2.52;2.52	5.07	4.2	0.49525	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.281252	0.41396	D	0.000890	T	0.24509	0.0594	L	0.29908	0.895	0.32347	N	0.558917	P;D;D;D;D	0.76494	0.512;0.966;0.966;0.999;0.997	B;P;P;D;D	0.79108	0.32;0.654;0.654;0.992;0.93	T	0.20075	-1.0286	10	0.87932	D	0	-16.8428	12.5275	0.56096	0.081:0.0:0.919:0.0	.	210;147;147;147;132	A5PKX8;E9PEG8;E7EN22;O94966;O94966-2	.;.;.;UBP19_HUMAN;.	L	85;147;147;85;147;147;132;132	ENSP00000381872:F85L;ENSP00000395260:F147L;ENSP00000400090:F147L;ENSP00000381867:F85L;ENSP00000381863:F147L;ENSP00000401197:F147L;ENSP00000303503:F132L	ENSP00000303503:F132L	F	-	3	2	USP19	49130125	1.000000	0.71417	1.000000	0.80357	0.517000	0.34286	4.169000	0.58223	1.361000	0.45981	-0.157000	0.13467	TTC		0.502	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		14	38	0	0	0	0	14	38				
PHLDB2	90102	broad.mit.edu	37	3	111688671	111688671	+	Silent	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr3:111688671C>T	ENST00000431670.2	+	16	3861	c.3450C>T	c.(3448-3450)ctC>ctT	p.L1150L	PHLDB2_ENST00000481953.1_Silent_p.L1107L|PHLDB2_ENST00000412622.1_Silent_p.L1107L|PHLDB2_ENST00000393925.3_Silent_p.L1150L|PHLDB2_ENST00000393923.3_Silent_p.L1134L|PHLDB2_ENST00000495180.1_Silent_p.L641L	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1150	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)		p.L1107L(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GAGGATTCCTCATCAAAATGG	0.418																																						uc010hqa.2		NA																	1	Substitution - coding silent(1)		breast(1)	ovary(4)|skin(2)	6						c.(3448-3450)CTC>CTT		pleckstrin homology-like domain, family B,							135.0	138.0	137.0					3																	111688671		2203	4300	6503	SO:0001819	synonymous_variant	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111688671C>T		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.3450C>T	3.37:g.111688671C>T						PHLDB2_uc003dyc.2_Silent_p.L1134L|PHLDB2_uc003dyd.2_Silent_p.L1107L|PHLDB2_uc003dyg.2_Silent_p.L1150L|PHLDB2_uc003dyh.2_Silent_p.L1107L|PHLDB2_uc003dyi.2_Silent_p.L641L|PHLDB2_uc003dyj.2_Silent_p.L205L	p.L1150L	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN			16	3861	+			1150			PH.		A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Silent	SNP	ENST00000431670.2	37	c.3450C>T	CCDS46886.1																																																																																				0.418	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		18	78	0	0	0	0	18	78				
KALRN	8997	broad.mit.edu	37	3	124175521	124175521	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr3:124175521G>T	ENST00000240874.3	+	23	3951	c.3794G>T	c.(3793-3795)cGg>cTg	p.R1265L	KALRN_ENST00000460856.1_Missense_Mutation_p.R1256L|KALRN_ENST00000360013.3_Missense_Mutation_p.R1265L	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1265					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GTCAAGCTGCGGGACGCCAAC	0.547																																						uc003ehg.2		NA																	0				large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(3793-3795)CGG>CTG		kalirin, RhoGEF kinase isoform 1							104.0	101.0	102.0					3																	124175521		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124175521G>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.3794G>T	3.37:g.124175521G>T	ENSP00000240874:p.Arg1265Leu					KALRN_uc010hrv.1_Missense_Mutation_p.R1256L|KALRN_uc003ehf.1_Missense_Mutation_p.R1265L|KALRN_uc011bjy.1_Missense_Mutation_p.R1256L|KALRN_uc003ehh.1_Missense_Mutation_p.R611L	p.R1265L	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			23	3921	+			1265					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.3794G>T	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.1|21.1	4.105332|4.105332	0.77096|0.77096	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000354186|ENST00000460856;ENST00000240874;ENST00000360013	.|T;T;T	.|0.61859	.|0.61;0.54;0.07	4.88|4.88	4.88|4.88	0.63580|0.63580	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.73992|0.73992	0.3658|0.3658	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	.|D;P;D;B	.|0.63880	.|0.979;0.771;0.993;0.2	.|P;B;D;B	.|0.71184	.|0.776;0.406;0.972;0.108	T|T	0.73534|0.73534	-0.3952|-0.3952	5|10	.|0.41790	.|T	.|0.15	.|.	18.2159|18.2159	0.89885|0.89885	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1256;611;1265;1265	.|C9IZQ6;F2Z3Q6;O60229;O60229-2	.|.;.;KALRN_HUMAN;.	W|L	1234|1256;1265;1265	.|ENSP00000418611:R1256L;ENSP00000240874:R1265L;ENSP00000353109:R1265L	.|ENSP00000240874:R1265L	G|R	+|+	1|2	0|0	KALRN|KALRN	125658211|125658211	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.984000|0.984000	0.73092|0.73092	9.652000|9.652000	0.98499|0.98499	2.530000|2.530000	0.85305|0.85305	0.585000|0.585000	0.79938|0.79938	GGG|CGG		0.547	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		4	74	1	0	0.00909568	0.00966416	4	74				
ZBTB38	253461	broad.mit.edu	37	3	141162473	141162473	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr3:141162473A>G	ENST00000514251.1	+	4	1522	c.1243A>G	c.(1243-1245)Att>Gtt	p.I415V	ZBTB38_ENST00000321464.5_Missense_Mutation_p.I416V|ZBTB38_ENST00000441582.2_Missense_Mutation_p.I415V					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						CTATCCTACCATTGGACAAAA	0.448																																						uc003etw.2		NA																	0				ovary(3)	3						c.(1243-1245)ATT>GTT		zinc finger and BTB domain containing 38							105.0	101.0	102.0					3																	141162473		1879	4100	5979	SO:0001583	missense	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141162473A>G	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.1243A>G	3.37:g.141162473A>G	ENSP00000426387:p.Ile415Val					ZBTB38_uc010hun.2_Missense_Mutation_p.I412V|ZBTB38_uc010huo.2_Missense_Mutation_p.I415V|ZBTB38_uc003ety.2_Missense_Mutation_p.I415V|ZBTB38_uc010hup.2_Missense_Mutation_p.I416V	p.I415V	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN			8	2225	+			415						Missense_Mutation	SNP	ENST00000514251.1	37	c.1243A>G	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	A	5.175	0.217762	0.09810	.	.	ENSG00000177311	ENST00000509883;ENST00000514251;ENST00000441582;ENST00000321464	T;T;T;T	0.08720	3.61;3.06;3.06;3.06	5.56	3.04	0.35103	.	0.632217	0.15411	N	0.263782	T	0.03959	0.0111	N	0.14661	0.345	0.09310	N	1	B;B	0.26318	0.146;0.146	B;B	0.24974	0.057;0.057	T	0.38542	-0.9656	9	.	.	.	-17.8252	2.8888	0.05670	0.6227:0.1485:0.0856:0.1432	.	416;415	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	V	415;415;415;416	ENSP00000424254:I415V;ENSP00000426387:I415V;ENSP00000406955:I415V;ENSP00000372635:I416V	.	I	+	1	0	ZBTB38	142645163	0.193000	0.23313	0.998000	0.56505	0.929000	0.56500	1.910000	0.39927	2.123000	0.65237	0.528000	0.53228	ATT		0.448	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			27	77	0	0	0	0	27	77				
GRK7	131890	broad.mit.edu	37	3	141499575	141499575	+	Silent	SNP	G	G	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr3:141499575G>T	ENST00000264952.2	+	2	1109	c.972G>T	c.(970-972)ctG>ctT	p.L324L		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	324	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						ATGTGCTTCTGGATGACCTCG	0.587																																						uc011bnd.1		NA																	0				lung(2)|stomach(1)|ovary(1)|skin(1)	5						c.(970-972)CTG>CTT		G-protein-coupled receptor kinase 7 precursor							84.0	71.0	75.0					3																	141499575		2203	4300	6503	SO:0001819	synonymous_variant	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141499575G>T		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.972G>T	3.37:g.141499575G>T							p.L324L	NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN			2	1056	+			324			Protein kinase.			Silent	SNP	ENST00000264952.2	37	c.972G>T	CCDS3120.1																																																																																				0.587	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		6	27	1	0	0.000157383	0.000170499	6	27				
AADAC	13	broad.mit.edu	37	3	151532078	151532078	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr3:151532078T>C	ENST00000232892.7	+	1	254	c.128T>C	c.(127-129)aTa>aCa	p.I43T	RP11-454C18.2_ENST00000475855.1_RNA|AADAC_ENST00000488869.1_Missense_Mutation_p.I43T|RP11-454C18.2_ENST00000483843.2_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	43					positive regulation of triglyceride catabolic process (GO:0010898)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|deacetylase activity (GO:0019213)|lipase activity (GO:0016298)|serine hydrolase activity (GO:0017171)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CTGAAAACTATACAAAATTTG	0.348																																					Ovarian(30;839 841 2699 32801 46334)	uc003eze.2		NA																	0				skin(2)	2						c.(127-129)ATA>ACA		arylacetamide deacetylase							45.0	45.0	45.0					3																	151532078		2203	4300	6503	SO:0001583	missense	13				positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity	g.chr3:151532078T>C	L32179	CCDS33877.1	3q25.1	2014-03-18	2012-07-13		ENSG00000114771	ENSG00000114771	3.1.1.3		17	protein-coding gene	gene with protein product		600338	"""arylacetamide deacetylase (esterase)"""			8063807	Standard	XM_005247103		Approved	DAC, CES5A1	uc003eze.3	P22760	OTTHUMG00000159876	ENST00000232892.7:c.128T>C	3.37:g.151532078T>C	ENSP00000232892:p.Ile43Thr						p.I43T	NM_001086	NP_001077	P22760	AAAD_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		1	218	+		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	43			Lumenal (Potential).		A8K3L3|D3DNJ6|Q8N1A9	Missense_Mutation	SNP	ENST00000232892.7	37	c.128T>C	CCDS33877.1	.	.	.	.	.	.	.	.	.	.	T	3.282	-0.146815	0.06627	.	.	ENSG00000114771	ENST00000232892;ENST00000488869	T;T	0.11495	3.65;2.77	5.04	-0.343	0.12632	.	4.910570	0.00496	N	0.000144	T	0.07503	0.0189	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.30909	-0.9962	10	0.20519	T	0.43	7.1613	5.3978	0.16278	0.0:0.2413:0.143:0.6156	.	43	P22760	AAAD_HUMAN	T	43	ENSP00000232892:I43T;ENSP00000419620:I43T	ENSP00000232892:I43T	I	+	2	0	AADAC	153014768	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.686000	0.25392	-0.228000	0.09869	-0.274000	0.10170	ATA		0.348	AADAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357883.2	NM_001086		3	21	0	0	0	0	3	21				
SI	6476	broad.mit.edu	37	3	164735778	164735778	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr3:164735778A>T	ENST00000264382.3	-	29	3562	c.3500T>A	c.(3499-3501)tTa>tAa	p.L1167*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1167	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.L1167*(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GCTGTTGAGTAAGAAAACACC	0.338										HNSCC(35;0.089)																												uc003fei.2		NA																	1	Substitution - Nonsense(1)	p.L1167*(1)	upper_aerodigestive_tract(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(3499-3501)TTA>TAA		sucrase-isomaltase	Acarbose(DB00284)						109.0	107.0	108.0					3																	164735778		2203	4300	6503	SO:0001587	stop_gained	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164735778A>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3500T>A	3.37:g.164735778A>T	ENSP00000264382:p.Leu1167*	HNSCC(35;0.089)					p.L1167*	NM_001041	NP_001032	P14410	SUIS_HUMAN			29	3562	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1167			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Nonsense_Mutation	SNP	ENST00000264382.3	37	c.3500T>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	A	42	9.308104	0.99132	.	.	ENSG00000090402	ENST00000264382	.	.	.	5.17	5.17	0.71159	.	0.082067	0.50627	D	0.000116	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1773	0.72924	1.0:0.0:0.0:0.0	.	.	.	.	X	1167	.	ENSP00000264382:L1167X	L	-	2	0	SI	166218472	1.000000	0.71417	0.981000	0.43875	0.774000	0.43823	8.054000	0.89451	2.171000	0.68590	0.402000	0.26972	TTA		0.338	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		26	31	0	0	0	0	26	31				
CLDN11	5010	broad.mit.edu	37	3	170150427	170150427	+	Silent	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr3:170150427C>T	ENST00000064724.3	+	3	709	c.507C>T	c.(505-507)ctC>ctT	p.L169L	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000489485.1_3'UTR	NM_005602.5	NP_005593.2	O75508	CLD11_HUMAN	claudin 11	169					axon ensheathment (GO:0008366)|calcium-independent cell-cell adhesion (GO:0016338)|spermatogenesis (GO:0007283)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TGCTGTGCCTCGTGGGTGGCT	0.592																																						uc003fgx.2		NA																	0				central_nervous_system(1)	1						c.(505-507)CTC>CTT		claudin 11							182.0	166.0	171.0					3																	170150427		2203	4300	6503	SO:0001819	synonymous_variant	5010				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr3:170150427C>T	AF068863	CCDS3213.1	3q26.2-q26.3	2008-08-01	2008-08-01		ENSG00000013297	ENSG00000013297		"""Claudins"""	8514	protein-coding gene	gene with protein product		601326	"""oligodendrocyte transmembrane protein"""	OTM		8661061, 8797478	Standard	NM_005602		Approved	OSP	uc003fgx.3	O75508	OTTHUMG00000158940	ENST00000064724.3:c.507C>T	3.37:g.170150427C>T						CLDN11_uc011bpt.1_Intron|CLDN11_uc003fgy.2_Silent_p.L85L	p.L169L	NM_005602	NP_005593	O75508	CLD11_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		3	709	+	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		169			Helical; (Potential).		B2R7C1|D3DNQ5|Q5U0P3	Silent	SNP	ENST00000064724.3	37	c.507C>T	CCDS3213.1																																																																																				0.592	CLDN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352403.1	NM_005602		31	131	0	0	0	0	31	131				
FNDC3B	64778	broad.mit.edu	37	3	172070689	172070689	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr3:172070689G>C	ENST00000336824.4	+	22	2710	c.2611G>C	c.(2611-2613)Gag>Cag	p.E871Q	FNDC3B_ENST00000416957.1_Missense_Mutation_p.E871Q|FNDC3B_ENST00000415807.2_Missense_Mutation_p.E871Q	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	871	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CTGTGTCCTGGAGGAGGAGCC	0.567																																						uc003fhy.2		NA																	0				ovary(2)|breast(1)	3						c.(2611-2613)GAG>CAG		fibronectin type III domain containing 3B							96.0	85.0	89.0					3																	172070689		2203	4300	6503	SO:0001583	missense	64778					endoplasmic reticulum|integral to membrane		g.chr3:172070689G>C	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.2611G>C	3.37:g.172070689G>C	ENSP00000338523:p.Glu871Gln					FNDC3B_uc003fhz.3_Missense_Mutation_p.E871Q	p.E871Q	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	22	2783	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		871			Fibronectin type-III 7.		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	c.2611G>C	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.790963	0.70452	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.53857	0.6;0.6;0.6	5.9	5.9	0.94986	Fibronectin, type III (3);	0.144720	0.64402	D	0.000007	T	0.61553	0.2356	M	0.87900	2.915	0.80722	D	1	B	0.29571	0.249	B	0.29524	0.103	T	0.60505	-0.7250	10	0.22109	T	0.4	-21.0344	20.2723	0.98479	0.0:0.0:1.0:0.0	.	871	Q53EP0	FND3B_HUMAN	Q	871	ENSP00000411242:E871Q;ENSP00000338523:E871Q;ENSP00000389094:E871Q	ENSP00000338523:E871Q	E	+	1	0	FNDC3B	173553383	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	6.260000	0.72502	2.793000	0.96121	0.563000	0.77884	GAG		0.567	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		26	68	0	0	0	0	26	68				
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		555	Substitution - Missense(555)	p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1624-1626)GAA>AAA		phosphoinositide-3-kinase, catalytic, alpha							56.0	56.0	56.0					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936082G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E542K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1781	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		542		E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1624G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			11	59	0	0	0	0	11	59				
ZNF595	152687	broad.mit.edu	37	4	86787	86787	+	3'UTR	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr4:86787A>G	ENST00000339368.6	+	0	1596							Q8IYB9	ZN595_HUMAN	zinc finger protein 595						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		TACACGGTCCACAACACTGAA	0.393																																						uc003fzv.1		NA																	0					0						c.(1393-1395)ACA>GCA		zinc finger protein 595							37.0	41.0	40.0					4																	86787		2139	4255	6394	SO:0001624	3_prime_UTR_variant	152687				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr4:86787A>G	BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000339368.6:c.*1593A>G	4.37:g.86787A>G						ZNF595_uc003fzu.1_Intron|ZNF718_uc003fzt.3_Intron|ZNF595_uc011bus.1_Missense_Mutation_p.T233A|ZNF595_uc011but.1_Missense_Mutation_p.T233A	p.T465A	NM_182524	NP_872330	Q7Z3I0	Q7Z3I0_HUMAN		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)	6	1549	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)	465						Missense_Mutation	SNP	ENST00000339368.6	37	c.1393A>G																																																																																					0.393	ZNF595-001	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000357814.2	NM_182524		7	23	0	0	0	0	7	23				
ZAR1	326340	broad.mit.edu	37	4	48496198	48496198	+	Silent	SNP	C	C	T	rs367693998		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr4:48496198C>T	ENST00000327939.4	+	4	1252	c.1212C>T	c.(1210-1212)tgC>tgT	p.C404C		NM_175619.1	NP_783318.1	Q86SH2	ZAR1_HUMAN	zygote arrest 1	404					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(4)	5						AAGATTTGTGCGGTAGATGCA	0.478																																						uc003gyd.2		NA																	0					0						c.(1210-1212)TGC>TGT		zygote arrest 1		C		0,4406		0,0,2203	98.0	97.0	98.0		1212	2.0	1.0	4		98	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZAR1	NM_175619.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		404/425	48496198	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	326340				multicellular organismal development	cytoplasm|membrane	bile acid:sodium symporter activity	g.chr4:48496198C>T	AY193890	CCDS3483.1	4p11	2014-02-20			ENSG00000182223	ENSG00000182223			20436	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 6"""	607520				12539046	Standard	NM_175619		Approved	Z3CXXC6	uc003gyd.3	Q86SH2	OTTHUMG00000102093	ENST00000327939.4:c.1212C>T	4.37:g.48496198C>T							p.C404C	NM_175619	NP_783318	Q86SH2	ZAR1_HUMAN			4	1212	+			404						Silent	SNP	ENST00000327939.4	37	c.1212C>T	CCDS3483.1																																																																																				0.478	ZAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219927.3			14	62	0	0	0	0	14	62				
ANKRD17	26057	broad.mit.edu	37	4	74007554	74007554	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr4:74007554G>C	ENST00000358602.4	-	14	2352	c.2236C>G	c.(2236-2238)Cgt>Ggt	p.R746G	ANKRD17_ENST00000330838.6_Missense_Mutation_p.R746G|ANKRD17_ENST00000509867.2_Missense_Mutation_p.R633G|ANKRD17_ENST00000514252.1_5'UTR	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	746					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACTGGTACACGAGGAGCCTAA	0.418																																						uc003hgp.2		NA																	0				ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10						c.(2236-2238)CGT>GGT		ankyrin repeat domain protein 17 isoform a							74.0	71.0	72.0					4																	74007554		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:74007554G>C	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.2236C>G	4.37:g.74007554G>C	ENSP00000351416:p.Arg746Gly					ANKRD17_uc003hgo.2_Missense_Mutation_p.R633G|ANKRD17_uc003hgq.2_Missense_Mutation_p.R746G|ANKRD17_uc003hgr.2_Missense_Mutation_p.R746G|ANKRD17_uc011cbd.1_Missense_Mutation_p.R311G	p.R746G	NM_032217	NP_115593	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		14	2353	-	Breast(15;0.000295)		746					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.2236C>G	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	G	34	5.371863	0.95923	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000411811	T;T;T	0.68765	-0.35;-0.23;-0.34	6.05	6.05	0.98169	Ankyrin repeat-containing domain (1);	0.000000	0.64402	D	0.000003	T	0.77572	0.4150	L	0.47190	1.495	0.45452	D	0.998429	D;D;D;D;D	0.65815	0.995;0.986;0.991;0.995;0.964	P;P;D;P;P	0.65233	0.822;0.9;0.933;0.9;0.801	T	0.73707	-0.3898	10	0.40728	T	0.16	.	20.6013	0.99457	0.0:0.0:1.0:0.0	.	267;746;746;746;633	B4DR08;O75179-2;G5E964;O75179;E7EUV3	.;.;.;ANR17_HUMAN;.	G	746;746;746;633;746	ENSP00000351416:R746G;ENSP00000332265:R746G;ENSP00000427151:R633G	ENSP00000332265:R746G	R	-	1	0	ANKRD17	74226418	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.848000	0.99507	2.878000	0.98634	0.650000	0.86243	CGT		0.418	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		7	27	0	0	0	0	7	27				
ART3	419	broad.mit.edu	37	4	77033553	77033553	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr4:77033553C>T	ENST00000355810.4	+	12	1170	c.1051C>T	c.(1051-1053)Cct>Tct	p.P351S	ART3_ENST00000349321.3_Missense_Mutation_p.P340S|ART3_ENST00000341029.5_Missense_Mutation_p.P329S	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	351					protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AGGTCCAGTTCCTGTTCCAGG	0.403																																						uc003hjo.2		NA																	0				ovary(2)	2						c.(1051-1053)CCT>TCT		ADP-ribosyltransferase 3 isoform a							208.0	192.0	197.0					4																	77033553		2203	4300	6503	SO:0001583	missense	419				protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity	g.chr4:77033553C>T	X95827	CCDS3575.1, CCDS47079.1, CCDS47080.1	4q21.1	2008-05-15			ENSG00000156219	ENSG00000156219			725	protein-coding gene	gene with protein product		603086				9119374	Standard	NM_001130017		Approved		uc003hjo.3	Q13508	OTTHUMG00000130110	ENST00000355810.4:c.1051C>T	4.37:g.77033553C>T	ENSP00000348064:p.Pro351Ser					ART3_uc003hjk.2_Missense_Mutation_p.P329S|ART3_uc003hjn.2_Missense_Mutation_p.P340S|ART3_uc003hjp.2_RNA|ART3_uc010ijb.2_RNA|ART3_uc003hjq.2_RNA|ART3_uc003hjr.2_Missense_Mutation_p.P332S|ART3_uc010ijc.2_Missense_Mutation_p.P310S|ART3_uc010ijd.2_Missense_Mutation_p.P310S	p.P351S	NM_001130016	NP_001123488	Q13508	NAR3_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		12	1170	+			351					Q53XW3|Q6FHT7|Q8WVJ7|Q93069|Q96HL1	Missense_Mutation	SNP	ENST00000355810.4	37	c.1051C>T	CCDS47079.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.340619	0.24339	.	.	ENSG00000156219	ENST00000341029;ENST00000355810;ENST00000349321;ENST00000511188	T;T;T	0.19806	2.79;2.12;3.01	5.7	4.86	0.63082	.	0.436899	0.18782	N	0.131306	T	0.28830	0.0715	L	0.43923	1.385	0.23577	N	0.997379	B;D;B;B	0.63880	0.2;0.993;0.301;0.301	B;P;B;B	0.55713	0.062;0.782;0.184;0.184	T	0.07009	-1.0795	10	0.46703	T	0.11	-14.2201	9.6151	0.39687	0.0:0.9074:0.0:0.0926	.	300;351;340;329	D6RBN3;Q13508;Q13508-3;Q13508-2	.;NAR3_HUMAN;.;.	S	329;351;340;114	ENSP00000343843:P329S;ENSP00000348064:P351S;ENSP00000304313:P340S	ENSP00000343843:P329S	P	+	1	0	ART3	77252577	0.926000	0.31397	0.952000	0.39060	0.799000	0.45148	2.118000	0.41949	2.703000	0.92315	0.555000	0.69702	CCT		0.403	ART3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252416.2	NM_001179		22	72	0	0	0	0	22	72				
FRAS1	80144	broad.mit.edu	37	4	79455676	79455676	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr4:79455676C>G	ENST00000264895.6	+	71	11439	c.10999C>G	c.(10999-11001)Cag>Gag	p.Q3667E		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3663					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CACTGAATTTCAGCTCTGCAA	0.418																																						uc003hlb.2		NA																	0				large_intestine(5)	5						c.(10999-11001)CAG>GAG		Fraser syndrome 1							174.0	158.0	163.0					4																	79455676		1906	4121	6027	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79455676C>G	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.10999C>G	4.37:g.79455676C>G	ENSP00000264895:p.Gln3667Glu						p.Q3667E	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			71	11439	+			3662			Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.10999C>G	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.00|19.00	3.741119|3.741119	0.69304|0.69304	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.62788|.	0.0|.	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.73892|.	0.3645|.	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	D|.	0.63880|.	0.993|.	P|.	0.60415|.	0.874|.	T|.	0.72381|.	-0.4311|.	10|.	0.42905|.	T|.	0.14|.	.|.	18.9337|18.9337	0.92577|0.92577	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3667|.	E9PHH6|.	.|.	E|X	3667|1895	ENSP00000264895:Q3667E|.	ENSP00000264895:Q3667E|.	Q|S	+|+	1|2	0|0	FRAS1|FRAS1	79674700|79674700	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	7.667000|7.667000	0.83888|0.83888	2.454000|2.454000	0.82982|0.82982	0.591000|0.591000	0.81541|0.81541	CAG|TCA		0.418	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				42	115	0	0	0	0	42	115				
FAT1	2195	broad.mit.edu	37	4	187525003	187525003	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr4:187525003G>C	ENST00000441802.2	-	19	10886	c.10677C>G	c.(10675-10677)taC>taG	p.Y3559*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3559	Cadherin 33. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGCCACCTGAGTATTCTTCTC	0.468										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(10675-10677)TAC>TAG		FAT tumor suppressor 1 precursor							86.0	87.0	86.0					4																	187525003		1961	4137	6098	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187525003G>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.10677C>G	4.37:g.187525003G>C	ENSP00000406229:p.Tyr3559*	HNSCC(5;0.00058)					p.Y3559*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			19	10865	-			3559			Extracellular (Potential).|Cadherin 33.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.10677C>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	52	19.100370	0.99915	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.06	2.03	0.26663	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	6.8082	0.23788	0.4374:0.0:0.5626:0.0	.	.	.	.	X	3559;3561	.	ENSP00000260147:Y3561X	Y	-	3	2	FAT1	187761997	0.990000	0.36364	0.917000	0.36280	0.717000	0.41224	0.676000	0.25247	0.662000	0.31006	0.563000	0.77884	TAC		0.468	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		15	23	0	0	0	0	15	23				
ZFYVE16	9765	broad.mit.edu	37	5	79734575	79734575	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr5:79734575A>G	ENST00000338008.5	+	3	2251	c.2071A>G	c.(2071-2073)Ata>Gta	p.I691V	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.I691V|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.I691V	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	691					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		CACTTGTGCTATAGATTCTAC	0.388																																					Melanoma(150;1452 1854 16018 17851 37292)	uc003kgr.3		NA																	0					0						c.(2071-2073)ATA>GTA		zinc finger, FYVE domain containing 16							104.0	98.0	100.0					5																	79734575		2203	4300	6503	SO:0001583	missense	9765				BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	g.chr5:79734575A>G	AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.2071A>G	5.37:g.79734575A>G	ENSP00000337159:p.Ile691Val					ZFYVE16_uc010jak.1_Missense_Mutation_p.I691V|ZFYVE16_uc003kgp.2_Missense_Mutation_p.I691V|ZFYVE16_uc003kgq.3_Missense_Mutation_p.I691V|ZFYVE16_uc003kgs.3_Missense_Mutation_p.I691V	p.I691V	NM_001105251	NP_001098721	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	4	2373	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	691					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	c.2071A>G	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.095246	0.00364	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.36878	1.23;1.23;1.23	5.82	-9.62	0.00547	.	1.977500	0.01919	N	0.040408	T	0.13756	0.0333	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.12734	-1.0536	10	0.27082	T	0.32	4.3125	6.8498	0.24008	0.2002:0.2172:0.4894:0.0932	.	691;691	Q7Z3T8-3;Q7Z3T8	.;ZFY16_HUMAN	V	691	ENSP00000337159:I691V;ENSP00000423663:I691V;ENSP00000426848:I691V	ENSP00000337159:I691V	I	+	1	0	ZFYVE16	79770331	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.054000	0.03496	-2.215000	0.00733	-2.495000	0.00193	ATA		0.388	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		16	35	0	0	0	0	16	35				
SLCO6A1	133482	broad.mit.edu	37	5	101834543	101834543	+	Silent	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr5:101834543G>A	ENST00000506729.1	-	1	177	c.6C>T	c.(4-6)ttC>ttT	p.F2F	SLCO6A1_ENST00000513675.1_Silent_p.F2F|RP11-58B2.1_ENST00000502494.1_RNA|SLCO6A1_ENST00000389019.3_Silent_p.F2F|SLCO6A1_ENST00000514551.1_5'Flank|SLCO6A1_ENST00000379810.1_Silent_p.F2F|SLCO6A1_ENST00000379807.3_Silent_p.F2F			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CGACGCCTACGAACATGGCTC	0.711																																						uc003knn.2		NA																	0				ovary(3)|skin(3)|central_nervous_system(1)	7						c.(4-6)TTC>TTT		solute carrier organic anion transporter family,							55.0	64.0	61.0					5																	101834543		2192	4278	6470	SO:0001819	synonymous_variant	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101834543G>A	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.6C>T	5.37:g.101834543G>A						SLCO6A1_uc003kno.2_Silent_p.F2F|SLCO6A1_uc003knp.2_Silent_p.F2F|SLCO6A1_uc003knq.2_Silent_p.F2F	p.F2F	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	1	178	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	2			Cytoplasmic (Potential).		A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Silent	SNP	ENST00000506729.1	37	c.6C>T	CCDS34206.1																																																																																				0.711	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		31	140	0	0	0	0	31	140				
RAPGEF6	51735	broad.mit.edu	37	5	130764620	130764620	+	Silent	SNP	C	C	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr5:130764620C>G	ENST00000509018.1	-	27	4960	c.4755G>C	c.(4753-4755)gtG>gtC	p.V1585V	RAPGEF6_ENST00000296859.6_Silent_p.V1593V|RAPGEF6_ENST00000307984.5_Intron|RAPGEF6_ENST00000507093.1_Intron|CTC-432M15.3_ENST00000514667.1_Silent_p.V1635V	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1585					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CTGCATCAGTCACATCTCCTA	0.418																																					Melanoma(168;435 1955 13113 13877 23213)	uc003kvn.1		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(4753-4755)GTG>GTC		PDZ domain-containing guanine nucleotide							125.0	117.0	120.0					5																	130764620		2203	4300	6503	SO:0001819	synonymous_variant	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130764620C>G	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.4755G>C	5.37:g.130764620C>G						RAPGEF6_uc003kvp.1_Silent_p.V1635V|RAPGEF6_uc003kvo.1_Intron|RAPGEF6_uc010jdi.1_Silent_p.V1593V|RAPGEF6_uc010jdj.1_Intron|RAPGEF6_uc003kvm.1_Silent_p.V508V	p.V1585V	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	27	4961	-			1585					A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Silent	SNP	ENST00000509018.1	37	c.4755G>C	CCDS34225.1																																																																																				0.418	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		22	74	0	0	0	0	22	74				
AFF4	27125	broad.mit.edu	37	5	132222032	132222032	+	Silent	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr5:132222032C>T	ENST00000265343.5	-	18	3448	c.3069G>A	c.(3067-3069)aaG>aaA	p.K1023K		NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	1023					spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCTTTGAGTACTTCAGAGCAT	0.473																																					Ovarian(126;889 1733 2942 10745 11605)	uc003kyd.2		NA																	0				ovary(2)|kidney(2)|skin(1)	5						c.(3067-3069)AAG>AAA		ALL1 fused gene from 5q31							161.0	148.0	152.0					5																	132222032		2203	4300	6503	SO:0001819	synonymous_variant	27125				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr5:132222032C>T	AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.3069G>A	5.37:g.132222032C>T						AFF4_uc011cxk.1_Silent_p.K701K	p.K1023K	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		18	3477	-		all_cancers(142;0.145)|Breast(839;0.198)	1023					B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Silent	SNP	ENST00000265343.5	37	c.3069G>A	CCDS4164.1																																																																																				0.473	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423		38	82	0	0	0	0	38	82				
JADE2	23338	broad.mit.edu	37	5	133896507	133896507	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr5:133896507A>G	ENST00000402835.1	+	6	799	c.544A>G	c.(544-546)Atg>Gtg	p.M182V	PHF15_ENST00000395003.1_Missense_Mutation_p.M182V|PHF15_ENST00000361895.2_Missense_Mutation_p.M182V|PHF15_ENST00000282605.4_Missense_Mutation_p.M182V																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCACCAGAATATGGCCAGGGC	0.617																																						uc003kzo.1		NA																	0					0						c.(544-546)ATG>GTG		PHD finger protein 15							131.0	104.0	113.0					5																	133896507		2203	4300	6503	SO:0001583	missense	23338				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chr5:133896507A>G																												ENST00000402835.1:c.544A>G	5.37:g.133896507A>G	ENSP00000384671:p.Met182Val					PHF15_uc011cxt.1_Missense_Mutation_p.M182V|PHF15_uc003kzk.2_Missense_Mutation_p.M198V|PHF15_uc003kzl.2_Missense_Mutation_p.M182V|PHF15_uc003kzm.2_Missense_Mutation_p.M182V|PHF15_uc003kzn.2_Missense_Mutation_p.M182V	p.M182V	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		6	723	+			182						Missense_Mutation	SNP	ENST00000402835.1	37	c.544A>G		.	.	.	.	.	.	.	.	.	.	A	17.40	3.380089	0.61845	.	.	ENSG00000043143	ENST00000413974;ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000402835;ENST00000395003;ENST00000431355	T;T;T;T;T	0.46819	0.86;0.91;0.92;0.91;1.48	5.97	5.97	0.96955	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.52158	0.1717	M	0.66939	2.045	0.80722	D	1	B;P;B;P;B	0.37997	0.243;0.614;0.243;0.562;0.243	B;B;B;B;B	0.40009	0.258;0.298;0.258;0.316;0.119	T	0.56019	-0.8048	10	0.59425	D	0.04	.	15.6316	0.76912	1.0:0.0:0.0:0.0	.	182;182;182;182;198	Q9NQC1;B5MBX1;D3DQA3;Q9NQC1-3;B3KPL2	JADE2_HUMAN;.;.;.;.	V	182;198;182;182;182;182;182;182	ENSP00000282605:M182V;ENSP00000354425:M182V;ENSP00000384671:M182V;ENSP00000378451:M182V;ENSP00000406189:M182V	ENSP00000282605:M182V	M	+	1	0	PHF15	133924406	1.000000	0.71417	0.987000	0.45799	0.011000	0.07611	7.576000	0.82467	2.288000	0.76882	0.533000	0.62120	ATG		0.617	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000318543.1			10	31	0	0	0	0	10	31				
C5orf24	134553	broad.mit.edu	37	5	134190804	134190804	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr5:134190804A>G	ENST00000394976.3	+	2	442	c.214A>G	c.(214-216)Ata>Gta	p.I72V	C5orf24_ENST00000435259.2_Missense_Mutation_p.I72V|C5orf24_ENST00000504727.1_Missense_Mutation_p.I72V|C5orf24_ENST00000338051.4_Missense_Mutation_p.I72V	NM_001135586.1	NP_001129058.1	Q7Z6I8	CE024_HUMAN	chromosome 5 open reading frame 24	72										breast(2)|endometrium(2)|lung(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGGCAGAAGCATAGAAATAAA	0.453																																						uc003kzx.2		NA																	0					0						c.(214-216)ATA>GTA		hypothetical protein LOC134553							85.0	89.0	88.0					5																	134190804		2203	4300	6503	SO:0001583	missense	134553							g.chr5:134190804A>G	BC053677	CCDS4179.1, CCDS75307.1	5q31.1	2008-02-05			ENSG00000181904	ENSG00000181904			26746	protein-coding gene	gene with protein product						12477932	Standard	NM_152409		Approved	FLJ37562	uc003kzz.3	Q7Z6I8	OTTHUMG00000129121	ENST00000394976.3:c.214A>G	5.37:g.134190804A>G	ENSP00000378427:p.Ile72Val					C5orf24_uc003kzy.3_Missense_Mutation_p.I72V|C5orf24_uc003kzz.2_Missense_Mutation_p.I72V	p.I72V	NM_152409	NP_689622	Q7Z6I8	CE024_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	275	+			72					D3DQA7|Q86Y53|Q8N1T9	Missense_Mutation	SNP	ENST00000394976.3	37	c.214A>G	CCDS4179.1	.	.	.	.	.	.	.	.	.	.	A	3.496	-0.102819	0.06967	.	.	ENSG00000181904	ENST00000338051;ENST00000394976;ENST00000504727;ENST00000435259	.	.	.	5.98	0.348	0.16026	.	0.630869	0.17921	N	0.157508	T	0.21427	0.0516	N	0.19112	0.55	0.29194	N	0.875681	B;B	0.10296	0.003;0.003	B;B	0.12156	0.007;0.004	T	0.12528	-1.0544	9	0.24483	T	0.36	-4.5423	4.4275	0.11511	0.463:0.3573:0.0643:0.1154	.	72;72	Q7Z6I8-2;Q7Z6I8	.;CE024_HUMAN	V	72	.	ENSP00000337044:I72V	I	+	1	0	C5orf24	134218703	0.995000	0.38212	1.000000	0.80357	0.996000	0.88848	0.447000	0.21710	0.114000	0.18032	0.533000	0.62120	ATA		0.453	C5orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251167.1	NM_152409		28	55	0	0	0	0	28	55				
TENM2	57451	broad.mit.edu	37	5	167655115	167655115	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr5:167655115A>G	ENST00000518659.1	+	25	5539	c.5500A>G	c.(5500-5502)Atc>Gtc	p.I1834V	TENM2_ENST00000545108.1_Missense_Mutation_p.I1833V|CTB-178M22.2_ENST00000519795.1_RNA|TENM2_ENST00000403607.2_Missense_Mutation_p.I1658V|TENM2_ENST00000519204.1_Missense_Mutation_p.I1713V|TENM2_ENST00000520394.1_Missense_Mutation_p.I1595V	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1834					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CAAAGTCACCATCTTTGGCAG	0.498																																						uc010jjd.2		NA																	0				ovary(6)|central_nervous_system(4)	10						c.(5473-5475)ATC>GTC		odz, odd Oz/ten-m homolog 2							41.0	41.0	41.0					5																	167655115		1969	4157	6126	SO:0001583	missense	57451							g.chr5:167655115A>G	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.5500A>G	5.37:g.167655115A>G	ENSP00000429430:p.Ile1834Val					ODZ2_uc003lzr.3_Missense_Mutation_p.I1595V|ODZ2_uc003lzt.3_Missense_Mutation_p.I1198V|ODZ2_uc010jje.2_Missense_Mutation_p.I1089V	p.I1825V	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	25	5473	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.5473A>G		.	.	.	.	.	.	.	.	.	.	A	4.381	0.070215	0.08436	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.88124	-1.86;-1.85;-1.95;-2.34;-2.33	5.66	4.3	0.51218	.	0.210895	0.48767	N	0.000171	T	0.52108	0.1714	N	0.00260	-1.75	0.37310	D	0.909076	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.61879	-0.6972	10	0.02654	T	1	.	5.2523	0.15529	0.7457:0.0:0.2543:0.0	.	1833;1834;1595	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	V	1834;1833;1713;1595;1658	ENSP00000429430:I1834V;ENSP00000438635:I1833V;ENSP00000428964:I1713V;ENSP00000427874:I1595V;ENSP00000384905:I1658V	ENSP00000384905:I1658V	I	+	1	0	ODZ2	167587693	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.552000	0.67281	2.153000	0.67306	0.459000	0.35465	ATC		0.498	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		9	15	0	0	0	0	9	15				
FOXI1	2299	broad.mit.edu	37	5	169535280	169535280	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr5:169535280C>T	ENST00000306268.6	+	2	863	c.802C>T	c.(802-804)Ccc>Tcc	p.P268S	FOXI1_ENST00000449804.2_Intron			Q12951	FOXI1_HUMAN	forkhead box I1	268					embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGAGAAGCGGCCCTCCCCTCC	0.647									Pendred syndrome																													uc003mai.3		NA																	0				breast(3)|central_nervous_system(1)	4						c.(802-804)CCC>TCC		forkhead box I1 isoform a							48.0	56.0	53.0					5																	169535280		2203	4300	6503	SO:0001583	missense	2299	Pendred_syndrome	Familial Cancer Database	Goiter-Deafness syndrome	epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr5:169535280C>T	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"""Forkhead boxes"""	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.802C>T	5.37:g.169535280C>T	ENSP00000304286:p.Pro268Ser					FOXI1_uc003maj.3_Intron	p.P268S	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	847	+	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	268					Q14518|Q66SR7|Q8N6L8	Missense_Mutation	SNP	ENST00000306268.6	37	c.802C>T	CCDS4372.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.150111	0.00328	.	.	ENSG00000168269	ENST00000306268	D	0.94576	-3.46	5.01	-6.07	0.02158	.	0.781535	0.12263	N	0.484538	T	0.81413	0.4817	N	0.05124	-0.11	0.19945	N	0.999949	B	0.02656	0.0	B	0.01281	0.0	T	0.72327	-0.4327	10	0.06236	T	0.91	.	11.3142	0.49381	0.0:0.0921:0.1027:0.8052	.	268	Q12951	FOXI1_HUMAN	S	268	ENSP00000304286:P268S	ENSP00000304286:P268S	P	+	1	0	FOXI1	169467858	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.090000	0.11163	-1.131000	0.02910	-0.391000	0.06502	CCC		0.647	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	NM_144769, NM_012188		17	63	0	0	0	0	17	63				
ERVFRD-1	405754	broad.mit.edu	37	6	11105000	11105000	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr6:11105000G>A	ENST00000472091.1	-	2	919	c.544C>T	c.(544-546)Cag>Tag	p.Q182*	ERVFRD-1_ENST00000542862.1_Nonsense_Mutation_p.Q182*|SMIM13_ENST00000416247.2_Intron	NM_207582.2	NP_997465.1	P60508	SYCY2_HUMAN	endogenous retrovirus group FRD, member 1	182					syncytium formation (GO:0006949)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|viral envelope (GO:0019031)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1)	15						AAAGTTCCCTGAGGAAAAGTA	0.453																																						uc003mzt.2		NA																	0					0						c.(544-546)CAG>TAG		syncytin 2							129.0	143.0	138.0					6																	11105000		2203	4298	6501	SO:0001587	stop_gained	405754					integral to membrane|plasma membrane|virion		g.chr6:11105000G>A	AK075092, AK123938, AY358244	CCDS4519.1	6p24.2	2014-05-02			ENSG00000244476	ENSG00000244476			33823	other	endogenous retrovirus		610524				12970426, 14557543, 15476554, 21542922	Standard	NM_207582		Approved	HERV-W/FRD, HERV-FRD, envFRD, ERVFRDE1, syncytin-2	uc003mzt.3	P60508	OTTHUMG00000159193	ENST00000472091.1:c.544C>T	6.37:g.11105000G>A	ENSP00000420174:p.Gln182*					LOC221710_uc003mzr.2_Intron|LOC221710_uc011dio.1_Intron	p.Q182*	NM_207582	NP_997465	P60508	EFRD1_HUMAN			2	914	-			182			Extracellular (Potential).			Nonsense_Mutation	SNP	ENST00000472091.1	37	c.544C>T	CCDS4519.1	.	.	.	.	.	.	.	.	.	.	G	37	6.361980	0.97507	.	.	ENSG00000244476	ENST00000472091;ENST00000542862	.	.	.	0.235	0.235	0.15431	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	.	.	.	.	.	.	.	X	182	.	ENSP00000420174:Q182X	Q	-	1	0	ERVFRD-1	11212986	0.834000	0.29399	0.758000	0.31321	0.760000	0.43138	0.364000	0.20325	0.308000	0.22923	0.313000	0.20887	CAG		0.453	ERVFRD-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353776.1	NM_207582		58	176	0	0	0	0	58	176				
BTN1A1	696	broad.mit.edu	37	6	26509146	26509146	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr6:26509146C>G	ENST00000244513.6	+	7	1391	c.1325C>G	c.(1324-1326)tCt>tGt	p.S442C		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	442	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						AATGATGGATCTGATATCTAT	0.517																																						uc003nif.3		NA																	0				ovary(1)|skin(1)	2						c.(1324-1326)TCT>TGT		butyrophilin, subfamily 1, member A1 precursor							81.0	74.0	76.0					6																	26509146		2203	4300	6503	SO:0001583	missense	696					extracellular region|integral to plasma membrane	receptor activity	g.chr6:26509146C>G	U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.1325C>G	6.37:g.26509146C>G	ENSP00000244513:p.Ser442Cys						p.S442C	NM_001732	NP_001723	Q13410	BT1A1_HUMAN			7	1345	+			442			B30.2/SPRY.|Cytoplasmic (Potential).		Q4VAN3|Q4VAN4|Q9H458	Missense_Mutation	SNP	ENST00000244513.6	37	c.1325C>G	CCDS4614.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.722081	0.30503	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	T	0.70045	-0.45	5.84	4.05	0.47172	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.329132	0.26816	N	0.022346	T	0.61211	0.2329	M	0.70903	2.155	0.09310	N	1	P	0.45396	0.857	P	0.49192	0.602	T	0.59273	-0.7485	10	0.87932	D	0	.	13.5209	0.61568	0.2834:0.7166:0.0:0.0	.	442	Q13410	BT1A1_HUMAN	C	442	ENSP00000244513:S442C	ENSP00000244513:S442C	S	+	2	0	BTN1A1	26617125	0.001000	0.12720	0.002000	0.10522	0.024000	0.10985	1.663000	0.37429	0.785000	0.33685	-0.169000	0.13324	TCT		0.517	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	NM_001732		11	37	0	0	0	0	11	37				
VARS	7407	broad.mit.edu	37	6	31752260	31752260	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr6:31752260G>A	ENST00000375663.3	-	12	1927	c.1487C>T	c.(1486-1488)aCa>aTa	p.T496I	VARS_ENST00000482996.1_5'Flank|VARS_ENST00000444930.2_Missense_Mutation_p.T201I	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	496					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)	p.T496I(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GGTGCGACCTGTCAGCTCCTT	0.587																																						uc003nxe.2		NA																	1	Substitution - Missense(1)	p.T496I(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1486-1488)ACA>ATA		valyl-tRNA synthetase	L-Valine(DB00161)						71.0	74.0	73.0					6																	31752260		2203	4300	6503	SO:0001583	missense	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31752260G>A	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.1487C>T	6.37:g.31752260G>A	ENSP00000364815:p.Thr496Ile					VARS_uc011doi.1_RNA	p.T496I	NM_006295	NP_006286	P26640	SYVC_HUMAN			12	1910	-			496					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	ENST00000375663.3	37	c.1487C>T	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.453622	0.43531	.	.	ENSG00000204394	ENST00000375663;ENST00000444930	T;T	0.36878	1.23;1.23	5.82	4.9	0.64082	Aminoacyl-tRNA synthetase, class Ia (1);	0.381349	0.25416	N	0.030830	T	0.37972	0.1023	M	0.67517	2.055	0.09310	N	0.999999	P	0.38129	0.619	P	0.50896	0.653	T	0.16748	-1.0392	10	0.62326	D	0.03	-22.6654	12.4775	0.55823	0.0:0.2814:0.7186:0.0	.	496	P26640	SYVC_HUMAN	I	496;201	ENSP00000364815:T496I;ENSP00000398317:T201I	ENSP00000364815:T496I	T	-	2	0	VARS	31860239	0.001000	0.12720	0.956000	0.39512	0.987000	0.75469	0.303000	0.19210	2.747000	0.94245	0.655000	0.94253	ACA		0.587	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		23	60	0	0	0	0	23	60				
PTK7	5754	broad.mit.edu	37	6	43096755	43096755	+	Silent	SNP	C	C	T	rs140431672		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr6:43096755C>T	ENST00000230419.4	+	2	341	c.120C>T	c.(118-120)tcC>tcT	p.S40S	PTK7_ENST00000349241.2_Silent_p.S40S|PTK7_ENST00000471863.1_Silent_p.S40S|PTK7_ENST00000476760.1_Silent_p.S40S|PTK7_ENST00000352931.2_Silent_p.S40S|PTK7_ENST00000345201.2_Silent_p.S40S|PTK7_ENST00000481273.1_Silent_p.S48S	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	40	Ig-like C2-type 1.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			AGCCGTCCTCCCAGGATGCAC	0.637																																						uc003oub.1		NA																	0				ovary(2)|large_intestine(1)	3						c.(118-120)TCC>TCT		PTK7 protein tyrosine kinase 7 isoform a							46.0	46.0	46.0					6																	43096755		2203	4300	6503	SO:0001819	synonymous_variant	5754				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43096755C>T	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.120C>T	6.37:g.43096755C>T						PTK7_uc003ouc.1_Silent_p.S40S|PTK7_uc003oud.1_Silent_p.S40S|PTK7_uc003oue.1_Silent_p.S40S|PTK7_uc003ouf.1_RNA|PTK7_uc003oug.1_RNA|PTK7_uc011dve.1_Silent_p.S48S|PTK7_uc003oua.2_Silent_p.S40S	p.S40S	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		2	318	+			40			Ig-like C2-type 1.|Extracellular (Potential).		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Silent	SNP	ENST00000230419.4	37	c.120C>T	CCDS4884.1																																																																																				0.637	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			11	50	0	0	0	0	11	50				
RNGTT	8732	broad.mit.edu	37	6	89650812	89650812	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr6:89650812G>C	ENST00000369485.4	-	2	338	c.152C>G	c.(151-153)tCa>tGa	p.S51*	RNGTT_ENST00000538899.1_Intron|RNGTT_ENST00000369475.3_Nonsense_Mutation_p.S51*|RNGTT_ENST00000265607.6_Nonsense_Mutation_p.S51*	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	51	TPase.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA processing (GO:0006396)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|mRNA guanylyltransferase activity (GO:0004484)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA guanylyltransferase activity (GO:0008192)|triphosphatase activity (GO:0050355)	p.S51*(1)		endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		TAGGTAATTTGAGAGCATGCT	0.343																																						uc003pmr.2		NA																	1	Substitution - Nonsense(1)	p.S51*(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)	1						c.(151-153)TCA>TGA		RNA guanylyltransferase and 5'-phosphatase							164.0	162.0	163.0					6																	89650812		2203	4300	6503	SO:0001587	stop_gained	8732				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:89650812G>C	AF025654	CCDS5017.1	6q16	2011-06-09			ENSG00000111880	ENSG00000111880	2.7.7.50	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	10073	protein-coding gene	gene with protein product		603512				9828141, 9512541	Standard	NM_001286428		Approved	HCE, HCE1, hCAP	uc003pmr.2	O60942	OTTHUMG00000015190	ENST00000369485.4:c.152C>G	6.37:g.89650812G>C	ENSP00000358497:p.Ser51*					RNGTT_uc003pms.2_Nonsense_Mutation_p.S51*|RNGTT_uc011dzu.1_Intron|RNGTT_uc003pmt.2_Nonsense_Mutation_p.S51*	p.S51*	NM_003800	NP_003791	O60942	MCE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.151)	2	372	-		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)	51			TPase.		E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Nonsense_Mutation	SNP	ENST00000369485.4	37	c.152C>G	CCDS5017.1	.	.	.	.	.	.	.	.	.	.	G	33	5.217856	0.95104	.	.	ENSG00000111880	ENST00000369485;ENST00000265607;ENST00000536746;ENST00000369475	.	.	.	5.16	5.16	0.70880	.	0.059836	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	18.6118	0.91288	0.0:0.0:1.0:0.0	.	.	.	.	X	51;51;22;51	.	ENSP00000265607:S51X	S	-	2	0	RNGTT	89707531	1.000000	0.71417	1.000000	0.80357	0.455000	0.32408	5.784000	0.68990	2.545000	0.85829	0.643000	0.83706	TCA		0.343	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041469.1			15	60	0	0	0	0	15	60				
ROS1	6098	broad.mit.edu	37	6	117710592	117710592	+	Silent	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr6:117710592G>A	ENST00000368508.3	-	12	1878	c.1680C>T	c.(1678-1680)cgC>cgT	p.R560R	ROS1_ENST00000368507.3_Silent_p.R569R|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	560	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GCTCCTGCGGGCGGCCTGGCA	0.552			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1		NA		Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		0		p.R560C(1)		lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(1678-1680)CGC>CGT		proto-oncogene c-ros-1 protein precursor							78.0	83.0	81.0					6																	117710592		2203	4300	6503	SO:0001819	synonymous_variant	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117710592G>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.1680C>T	6.37:g.117710592G>A						ROS1_uc011ebi.1_Intron|GOPC_uc003pxq.1_Intron	p.R560R	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	12	1879	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	560			Fibronectin type-III 3.|Extracellular (Potential).		Q15368|Q5TDB5	Silent	SNP	ENST00000368508.3	37	c.1680C>T	CCDS5116.1																																																																																				0.552	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			26	83	0	0	0	0	26	83				
ABRACL	58527	broad.mit.edu	37	6	139363993	139363993	+	Silent	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr6:139363993C>T	ENST00000367660.3	+	3	399	c.199C>T	c.(199-201)Ctg>Ttg	p.L67L		NM_021243.2	NP_067066.1	Q9P1F3	ABRAL_HUMAN	ABRA C-terminal like	67																	AGAGCTGCTTCTGCAAGGTGT	0.373																																						uc003qil.2		NA																	0					0						c.(199-201)CTG>TTG		hypothetical protein LOC58527							241.0	222.0	228.0					6																	139363993		1918	4122	6040	SO:0001819	synonymous_variant	58527							g.chr6:139363993C>T	BC014953	CCDS43509.1	6q24.1	2012-03-05	2012-03-05	2012-03-05	ENSG00000146386	ENSG00000146386			21230	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 115"""	C6orf115		21082705	Standard	NM_021243		Approved	PRO2013, HSPC280, Costars	uc003qil.2	Q9P1F3	OTTHUMG00000015684	ENST00000367660.3:c.199C>T	6.37:g.139363993C>T						C6orf115_uc003qim.2_Silent_p.L67L	p.L67L	NM_021243	NP_067066	Q9P1F3	CF115_HUMAN		GBM - Glioblastoma multiforme(68;0.000278)|OV - Ovarian serous cystadenocarcinoma(155;0.000413)	3	399	+			67					Q5SZC8|Q9P0A1	Silent	SNP	ENST00000367660.3	37	c.199C>T	CCDS43509.1																																																																																				0.373	ABRACL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042445.1	NM_021243		34	101	0	0	0	0	34	101				
GRM1	2911	broad.mit.edu	37	6	146720766	146720766	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr6:146720766A>G	ENST00000282753.1	+	7	2826	c.2591A>G	c.(2590-2592)aAg>aGg	p.K864R	GRM1_ENST00000492807.2_Missense_Mutation_p.K864R|GRM1_ENST00000355289.4_Missense_Mutation_p.K864R|GRM1_ENST00000361719.2_Missense_Mutation_p.K864R|GRM1_ENST00000507907.1_Missense_Mutation_p.K864R|GRM1_ENST00000392299.2_Missense_Mutation_p.K864R			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	864					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GGCGATGGCAAGCTGCCCTGC	0.507																																						uc010khw.1		NA																	0				lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(2590-2592)AAG>AGG		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						44.0	37.0	39.0					6																	146720766		2203	4299	6502	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146720766A>G	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2591A>G	6.37:g.146720766A>G	ENSP00000282753:p.Lys864Arg					GRM1_uc010khv.1_Missense_Mutation_p.K864R|GRM1_uc003qll.2_Missense_Mutation_p.K864R|GRM1_uc011edz.1_Missense_Mutation_p.K864R|GRM1_uc011eea.1_Missense_Mutation_p.K864R	p.K864R	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	8	3061	+		Ovarian(120;0.0387)	864			Cytoplasmic (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.2591A>G	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.139093	0.77775	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.88741	-2.42;-2.37;-2.37;-2.42;-2.36;-2.37	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.88800	0.6535	M	0.77103	2.36	0.80722	D	1	P;P;P	0.52463	0.837;0.953;0.837	P;P;P	0.47603	0.476;0.551;0.476	D	0.89522	0.3779	10	0.49607	T	0.09	.	15.9149	0.79503	1.0:0.0:0.0:0.0	.	864;864;864	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	R	864	ENSP00000354896:K864R;ENSP00000376119:K864R;ENSP00000424095:K864R;ENSP00000282753:K864R;ENSP00000347437:K864R;ENSP00000425599:K864R	ENSP00000282753:K864R	K	+	2	0	GRM1	146762459	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.169000	0.68431	0.477000	0.44152	AAG		0.507	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		8	27	0	0	0	0	8	27				
AKAP12	9590	broad.mit.edu	37	6	151672243	151672243	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr6:151672243T>C	ENST00000253332.1	+	3	2906	c.2717T>C	c.(2716-2718)aTt>aCt	p.I906T	AKAP12_ENST00000359755.5_Missense_Mutation_p.I801T|AKAP12_ENST00000354675.6_Missense_Mutation_p.I808T|AKAP12_ENST00000402676.2_Missense_Mutation_p.I906T			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	906					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)	p.I906T(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GCTACCATTATTGAAGAAAGG	0.507																																					Melanoma(141;1616 1805 10049 24534 51979)	uc011eep.1		NA																	1	Substitution - Missense(1)	p.I906T(1)	upper_aerodigestive_tract(1)	large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8						c.(2716-2718)ATT>ACT		A kinase (PRKA) anchor protein 12 isoform 1							59.0	65.0	63.0					6																	151672243		2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151672243T>C	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.2717T>C	6.37:g.151672243T>C	ENSP00000253332:p.Ile906Thr					AKAP12_uc003qoe.2_Missense_Mutation_p.I906T|AKAP12_uc003qof.2_Missense_Mutation_p.I808T|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.I801T	p.I906T	NM_005100	NP_005091	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	2957	+		Ovarian(120;0.125)	906					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.2717T>C	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	T	11.37	1.618661	0.28801	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.09445	2.98;2.98;2.99;2.99	5.4	2.9	0.33743	.	1.558760	0.03971	N	0.291630	T	0.02970	0.0088	L	0.39898	1.24	0.09310	N	1	B;B;B	0.26577	0.081;0.081;0.153	B;B;B	0.27500	0.08;0.08;0.024	T	0.46176	-0.9210	10	0.13853	T	0.58	.	7.7606	0.28951	0.1241:0.0684:0.0:0.8075	.	801;808;906	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	T	906;906;808;801	ENSP00000384537:I906T;ENSP00000253332:I906T;ENSP00000346702:I808T;ENSP00000352794:I801T	ENSP00000253332:I906T	I	+	2	0	AKAP12	151713936	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	0.685000	0.25378	0.320000	0.23234	-0.444000	0.05651	ATT		0.507	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			15	41	0	0	0	0	15	41				
SP8	221833	broad.mit.edu	37	7	20824320	20824321	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr7:20824320_20824321GC>AA	ENST00000361443.4	-	3	1298_1299	c.1061_1062GC>TT	c.(1060-1062)gGC>gTT	p.G354V	SP8_ENST00000418710.2_Missense_Mutation_p.G372V	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	354					dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						AGCTGTGCAGGCCCTTGCGCCG	0.718																																						uc003suy.2		NA																	0				pancreas(1)	1						c.(1060-1062)GGC>GTT		Sp8 transcription factor isoform 2																																				SO:0001583	missense	221833				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:20824320_20824321GC>AA		CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.1061_1062delinsAA	7.37:g.20824320_20824321delinsAA	ENSP00000354482:p.Gly354Val					SP8_uc003suz.2_Missense_Mutation_p.G372V	p.G354V	NM_198956	NP_945194	Q8IXZ3	SP8_HUMAN			3	1302_1303	-			354			C2H2-type 2.		Q7Z615|Q7Z616|Q96MJ1	Missense_Mutation	DNP	ENST00000361443.4	37	c.1061_1062GC>TT	CCDS5372.1																																																																																				0.718	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326904.2			8	20	0	0	0	0	8	20				
YAE1D1	57002	broad.mit.edu	37	7	39606030	39606030	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr7:39606030C>T	ENST00000223273.2	+	1	56	c.13C>T	c.(13-15)Caa>Taa	p.Q5*	YAE1D1_ENST00000448268.1_Nonsense_Mutation_p.Q5*|AC011290.4_ENST00000439751.2_RNA|YAE1D1_ENST00000432096.2_Nonsense_Mutation_p.Q5*	NM_020192.3	NP_064577.1	Q9NRH1	YAED1_HUMAN	Yae1 domain containing 1	5																	GTCGTGGGTTCAAGCAGCCTC	0.622																																						uc003thc.3		NA																	0					0						c.(13-15)CAA>TAA		hypothetical protein LOC57002							89.0	76.0	81.0					7																	39606030		2203	4300	6503	SO:0001587	stop_gained	57002							g.chr7:39606030C>T	AF226046	CCDS5459.1, CCDS64630.1	7p14.1	2011-11-24	2011-11-24	2011-11-24	ENSG00000241127	ENSG00000241127			24857	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 36"""	C7orf36		12477932	Standard	NM_020192		Approved	GK003	uc003thc.4	Q9NRH1	OTTHUMG00000128689	ENST00000223273.2:c.13C>T	7.37:g.39606030C>T	ENSP00000223273:p.Gln5*						p.Q5*	NM_020192	NP_064577	Q9NRH1	CG036_HUMAN			1	22	+			5					A4D1W4|B4DE83|Q6IAF7|Q8WVZ5	Nonsense_Mutation	SNP	ENST00000223273.2	37	c.13C>T	CCDS5459.1	.	.	.	.	.	.	.	.	.	.	C	31	5.070732	0.93950	.	.	ENSG00000241127	ENST00000223273;ENST00000448268;ENST00000432096	.	.	.	5.65	3.63	0.41609	.	0.318933	0.34133	N	0.004235	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-1.7003	14.4379	0.67296	0.2791:0.7209:0.0:0.0	.	.	.	.	X	5	.	ENSP00000223273:Q5X	Q	+	1	0	C7orf36	39572555	0.000000	0.05858	0.588000	0.28705	0.167000	0.22549	0.191000	0.17076	1.344000	0.45657	0.655000	0.94253	CAA		0.622	YAE1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250586.1	NM_020192		15	26	0	0	0	0	15	26				
PCLO	27445	broad.mit.edu	37	7	82545553	82545553	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr7:82545553G>T	ENST00000333891.9	-	7	12086	c.11749C>A	c.(11749-11751)Cag>Aag	p.Q3917K	PCLO_ENST00000423517.2_Missense_Mutation_p.Q3917K|PCLO_ENST00000437081.1_Missense_Mutation_p.Q637K	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAAACTTGCTGATGGTACAAA	0.463																																						uc003uhx.2		NA																	0				ovary(7)	7						c.(11749-11751)CAG>AAG		piccolo isoform 1							409.0	406.0	407.0					7																	82545553		2030	4176	6206	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82545553G>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.11749C>A	7.37:g.82545553G>T	ENSP00000334319:p.Gln3917Lys					PCLO_uc003uhv.2_Missense_Mutation_p.Q3917K|PCLO_uc010lec.2_Missense_Mutation_p.Q882K	p.Q3917K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			7	12038	-			3848			Gln-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.11749C>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	4.786	0.146087	0.09134	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.17691	2.26;2.26	5.6	4.71	0.59529	.	.	.	.	.	T	0.27697	0.0681	M	0.63843	1.955	0.38258	D	0.941805	B;P;P	0.50272	0.18;0.933;0.933	B;P;P	0.47251	0.07;0.542;0.461	T	0.22800	-1.0206	9	0.87932	D	0	.	16.3743	0.83379	0.0:0.132:0.868:0.0	.	3848;3917;3917	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	K	3917;3917;637	ENSP00000334319:Q3917K;ENSP00000388393:Q3917K	ENSP00000334319:Q3917K	Q	-	1	0	PCLO	82383489	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	6.403000	0.73264	1.340000	0.45581	0.563000	0.77884	CAG		0.463	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		119	316	1	0	3.9e-80	4.5e-80	119	316				
PRKAR2B	5577	broad.mit.edu	37	7	106781346	106781346	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr7:106781346G>A	ENST00000265717.4	+	5	794	c.535G>A	c.(535-537)Gag>Aag	p.E179K	PRKAR2B_ENST00000393613.2_3'UTR	NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	179					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						CAAAGATGGGGAGCATGTAAT	0.328																																						uc003vdx.2		NA																	0				ovary(1)	1						c.(535-537)GAG>AAG		cAMP-dependent protein kinase, regulatory							171.0	167.0	169.0					7																	106781346		2203	4300	6503	SO:0001583	missense	5577				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr7:106781346G>A		CCDS5740.1	7q22.3	2010-04-22			ENSG00000005249	ENSG00000005249	2.7.11.1		9392	protein-coding gene	gene with protein product		176912		PRKAR2		1358799	Standard	NM_002736		Approved		uc003vdx.3	P31323	OTTHUMG00000137418	ENST00000265717.4:c.535G>A	7.37:g.106781346G>A	ENSP00000265717:p.Glu179Lys						p.E179K	NM_002736	NP_002727	P31323	KAP3_HUMAN			5	710	+			179			cAMP 1.		A4D0R9	Missense_Mutation	SNP	ENST00000265717.4	37	c.535G>A	CCDS5740.1	.	.	.	.	.	.	.	.	.	.	G	36	5.778494	0.96929	.	.	ENSG00000005249	ENST00000265717;ENST00000543645;ENST00000539794	D	0.94092	-3.35	5.55	5.55	0.83447	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.97021	0.9027	M	0.86864	2.845	0.80722	D	1	D	0.76494	0.999	D	0.64776	0.929	D	0.97417	1.0006	10	0.87932	D	0	-11.7862	19.5077	0.95125	0.0:0.0:1.0:0.0	.	179	P31323	KAP3_HUMAN	K	179;179;166	ENSP00000265717:E179K	ENSP00000265717:E179K	E	+	1	0	PRKAR2B	106568582	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.783000	0.99037	2.624000	0.88883	0.563000	0.77884	GAG		0.328	PRKAR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268386.1			7	44	0	0	0	0	7	44				
NDUFA5	4698	broad.mit.edu	37	7	123185711	123185711	+	Nonsense_Mutation	SNP	A	A	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr7:123185711A>C	ENST00000355749.2	-	4	662	c.203T>G	c.(202-204)tTa>tGa	p.L68*	NDUFA5_ENST00000467117.1_5'UTR|NDUFA5_ENST00000471770.1_Nonsense_Mutation_p.L68*	NM_001282419.1|NM_005000.2	NP_001269348.1|NP_004991.1	Q16718	NDUA5_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5	68					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			large_intestine(1)|urinary_tract(1)	2						TTGGTCTTCTAATTTTTTAAC	0.303																																						uc003vks.2		NA																	0					0						c.(202-204)TTA>TGA		NADH dehydrogenase (ubiquinone) 1 alpha	NADH(DB00157)						89.0	89.0	89.0					7																	123185711		2203	4298	6501	SO:0001587	stop_gained	4698				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr7:123185711A>C		CCDS5788.1, CCDS64760.1, CCDS75655.1, CCDS75656.1	7q31.33	2013-06-19	2013-06-19		ENSG00000128609	ENSG00000128609		"""Mitochondrial respiratory chain complex / Complex I"""	7688	protein-coding gene	gene with protein product	"""complex I 13kDa subunit B"", ""ubiquinone reductase"", ""type I dehydrogenase"", ""NADH-ubiquinone oxidoreductase 13 kDa-B subunit"""	601677	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 (13kD, B13)"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa"""			9763677, 9021153	Standard	XM_005250371		Approved	B13, NUFM, CI-13KD-B, UQOR13, CI-13kB	uc003vks.3	Q16718	OTTHUMG00000157348	ENST00000355749.2:c.203T>G	7.37:g.123185711A>C	ENSP00000347988:p.Leu68*					NDUFA5_uc003vkr.2_RNA	p.L68*	NM_005000	NP_004991	Q16718	NDUA5_HUMAN			4	312	-			68					B2RD98|Q5H9R2|Q6IRX7	Nonsense_Mutation	SNP	ENST00000355749.2	37	c.203T>G	CCDS5788.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.5|23.5	4.424409|4.424409	0.83667|0.83667	.|.	.|.	ENSG00000128609|ENSG00000128609	ENST00000378795|ENST00000471770;ENST00000355749;ENST00000470123	.|.	.|.	.|.	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	.|.	.|.	.|.	.|.	T|.	0.41673|.	0.1169|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.32877|.	-0.9890|.	4|.	.|0.02654	.|T	.|1	.|.	14.4226|14.4226	0.67193|0.67193	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	M|X	63|68;68;78	.|.	.|ENSP00000347988:L68X	I|L	-|-	3|2	3|0	NDUFA5|NDUFA5	122972947|122972947	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.572000|0.572000	0.35998|0.35998	6.578000|6.578000	0.74032|0.74032	2.101000|2.101000	0.63845|0.63845	0.378000|0.378000	0.23410|0.23410	ATT|TTA		0.303	NDUFA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348533.1	NM_005000		3	82	0	0	0	0	3	82				
NUP205	23165	broad.mit.edu	37	7	135279436	135279436	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr7:135279436G>C	ENST00000285968.6	+	13	1998	c.1972G>C	c.(1972-1974)Gaa>Caa	p.E658Q	NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	658					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						AAAATCTCCTGAAATTGCTGC	0.463																																						uc003vsw.2		NA																	0				ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(1972-1974)GAA>CAA		nucleoporin 205kDa							79.0	78.0	78.0					7																	135279436		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135279436G>C	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.1972G>C	7.37:g.135279436G>C	ENSP00000285968:p.Glu658Gln						p.E658Q	NM_015135	NP_055950	Q92621	NU205_HUMAN			13	2003	+			658					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.1972G>C	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	G	32	5.157627	0.94686	.	.	ENSG00000155561	ENST00000285968	T	0.35605	1.3	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.61590	0.2359	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.57631	-0.7778	10	0.23302	T	0.38	-28.7843	19.0836	0.93192	0.0:0.0:1.0:0.0	.	658	Q92621	NU205_HUMAN	Q	658	ENSP00000285968:E658Q	ENSP00000285968:E658Q	E	+	1	0	NUP205	134929976	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.802000	0.99131	2.479000	0.83701	0.655000	0.94253	GAA		0.463	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			20	48	0	0	0	0	20	48				
KIAA1549	57670	broad.mit.edu	37	7	138602949	138602949	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr7:138602949C>G	ENST00000422774.1	-	2	1471	c.1423G>C	c.(1423-1425)Gag>Cag	p.E475Q	KIAA1549_ENST00000440172.1_Missense_Mutation_p.E475Q|KIAA1549_ENST00000242365.4_Missense_Mutation_p.E425Q			Q9HCM3	K1549_HUMAN	KIAA1549	475						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGATCTTCCTCAAATTCAGAG	0.483			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	uc011kql.1		NA		Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(229)	0				central_nervous_system(229)|pancreas(1)	230						c.(1423-1425)GAG>CAG		hypothetical protein LOC57670 isoform 1							36.0	36.0	36.0					7																	138602949		2001	4181	6182	SO:0001583	missense	57670					integral to membrane		g.chr7:138602949C>G		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.1423G>C	7.37:g.138602949C>G	ENSP00000416040:p.Glu475Gln					KIAA1549_uc003vuk.3_Missense_Mutation_p.E425Q|KIAA1549_uc011kqj.1_Missense_Mutation_p.E475Q	p.E475Q	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN			2	1472	-			475					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.1423G>C	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.886093	0.72410	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.30182	1.54;1.55;1.54	4.75	4.75	0.60458	.	0.000000	0.56097	D	0.000028	T	0.39200	0.1069	L	0.32530	0.975	0.42504	D	0.99294	D;D	0.61080	0.982;0.989	P;P	0.61132	0.769;0.884	T	0.05402	-1.0887	10	0.25106	T	0.35	.	15.0735	0.72059	0.0:1.0:0.0:0.0	.	475;475	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	Q	475;425;475	ENSP00000406661:E475Q;ENSP00000242365:E425Q;ENSP00000416040:E475Q	ENSP00000242365:E425Q	E	-	1	0	KIAA1549	138253489	0.995000	0.38212	0.271000	0.24616	0.240000	0.25518	3.298000	0.51818	2.471000	0.83476	0.655000	0.94253	GAG		0.483	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			14	31	0	0	0	0	14	31				
PRSS1	5644	broad.mit.edu	37	7	142458409	142458409	+	Missense_Mutation	SNP	C	C	T	rs200665515		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr7:142458409C>T	ENST00000311737.7	+	2	50	c.44C>T	c.(43-45)gCt>gTt	p.A15V	PRSS1_ENST00000486171.1_Missense_Mutation_p.A15V	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	15					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)	ACTCCAGTTGCTGCCCCCTTT	0.502																																						uc003wak.2		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(43-45)GCT>GTT		protease, serine, 1 preproprotein							160.0	163.0	162.0					7																	142458409		2203	4300	6503	SO:0001583	missense	5644	Hereditary_Pancreatitis			digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142458409C>T	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.44C>T	7.37:g.142458409C>T	ENSP00000308720:p.Ala15Val					uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc011ksm.1_Intron|PRSS1_uc003wam.2_5'Flank	p.A15V	NM_002769	NP_002760	P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		2	61	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	15					A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	c.44C>T	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.278681	0.59758	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243	D;D	0.92965	-3.14;-3.14	3.49	3.49	0.39957	Peptidase cysteine/serine, trypsin-like (1);	0.048314	0.85682	D	0.000000	D	0.89712	0.6794	L	0.43701	1.375	0.52501	D	0.999951	B	0.31859	0.343	B	0.37833	0.259	D	0.89856	0.4013	10	0.54805	T	0.06	.	14.3966	0.67015	0.0:1.0:0.0:0.0	.	15	P07477	TRY1_HUMAN	V	15	ENSP00000417854:A15V;ENSP00000308720:A15V	ENSP00000308720:A15V	A	+	2	0	PRSS1	142137983	1.000000	0.71417	0.112000	0.21494	0.035000	0.12851	4.608000	0.61141	1.879000	0.54435	0.404000	0.27445	GCT		0.502	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			42	222	0	0	0	0	42	222				
DLGAP2	9228	broad.mit.edu	37	8	1497609	1497609	+	Silent	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr8:1497609G>A	ENST00000421627.2	+	2	884	c.750G>A	c.(748-750)gcG>gcA	p.A250A		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	329					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		ACCCCGACGCGCTGCAGAGCC	0.677																																						uc003wpl.2		NA																	0					0						c.(748-750)GCG>GCA		discs large-associated protein 2							56.0	65.0	62.0					8																	1497609		2097	4233	6330	SO:0001819	synonymous_variant	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1497609G>A	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.750G>A	8.37:g.1497609G>A						DLGAP2_uc003wpm.2_Silent_p.A250A	p.A250A	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	2	847	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	329					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Silent	SNP	ENST00000421627.2	37	c.750G>A	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	G	3.560	-0.089912	0.07053	.	.	ENSG00000198010	ENST00000520901	.	.	.	5.3	-10.6	0.00265	.	.	.	.	.	T	0.30572	0.0769	.	.	.	0.44402	D	0.997318	.	.	.	.	.	.	T	0.40850	-0.9541	4	.	.	.	-3.4101	0.7989	0.01072	0.2742:0.2897:0.2177:0.2184	.	.	.	.	H	267	.	.	R	+	2	0	DLGAP2	1485016	0.000000	0.05858	0.000000	0.03702	0.417000	0.31264	-2.558000	0.00923	-2.839000	0.00336	-0.778000	0.03378	CGC		0.677	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		36	65	0	0	0	0	36	65				
VPS37A	137492	broad.mit.edu	37	8	17142026	17142026	+	Silent	SNP	A	A	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr8:17142026A>T	ENST00000324849.4	+	10	1688	c.1014A>T	c.(1012-1014)gcA>gcT	p.A338A	VPS37A_ENST00000521829.1_Silent_p.A313A	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)	338	VPS37 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00646}.				cell death (GO:0008219)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		AAGTAGCTGCACATGAAGCTG	0.393																																						uc003wxj.2		NA																	0					0						c.(1012-1014)GCA>GCT		hepatocellular carcinoma related protein 1							100.0	101.0	101.0					8																	17142026		2203	4300	6503	SO:0001819	synonymous_variant	137492				cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus		g.chr8:17142026A>T		CCDS6001.1, CCDS47811.1	8p22	2012-06-29	2006-04-04		ENSG00000155975	ENSG00000155975			24928	protein-coding gene	gene with protein product	"""hepatocellular carcinoma related protein 1"""	609927	"""vacuolar protein sorting 37A (yeast)"", ""polyglutamine binding protein 2"""	PQBP2		15240819, 15218037, 22717650	Standard	NM_152415		Approved	FLJ32642, HCRP1, SPG53	uc003wxj.3	Q8NEZ2	OTTHUMG00000130785	ENST00000324849.4:c.1014A>T	8.37:g.17142026A>T						VPS37A_uc003wxk.2_Silent_p.A313A|VPS37A_uc003wxl.2_Silent_p.A109A	p.A338A	NM_152415	NP_689628	Q8NEZ2	VP37A_HUMAN		Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)	10	1367	+			338			VPS37 C-terminal.		Q336D5|Q6NW27|Q8N3D7|Q8TBL7|Q96DL9	Silent	SNP	ENST00000324849.4	37	c.1014A>T	CCDS6001.1																																																																																				0.393	VPS37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253301.2	NM_152415		27	21	0	0	0	0	27	21				
STC1	6781	broad.mit.edu	37	8	23709899	23709899	+	Splice_Site	SNP	T	T	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr8:23709899T>A	ENST00000290271.2	-	2	402		c.e2-2		STC1_ENST00000524323.1_Splice_Site	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1						bone development (GO:0060348)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cAMP (GO:0071320)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hypoxia (GO:0071456)|chondrocyte proliferation (GO:0035988)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endothelial cell morphogenesis (GO:0001886)|growth plate cartilage axis specification (GO:0003421)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of renal phosphate excretion (GO:1903403)|ossification (GO:0001503)|positive regulation of calcium ion import (GO:0090280)|regulation of anion transport (GO:0044070)|regulation of cardiac muscle cell contraction (GO:0086004)|response to vitamin D (GO:0033280)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.?(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		CCACTTCAGCTGAAAGAGACA	0.507																																						uc003xdw.1		NA																	1	Unknown(1)	p.?(1)	upper_aerodigestive_tract(1)	skin(3)|upper_aerodigestive_tract(1)	4						c.e2-1		stanniocalcin 1 precursor							85.0	78.0	80.0					8																	23709899		2203	4300	6503	SO:0001630	splice_region_variant	6781				cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity	g.chr8:23709899T>A		CCDS6043.1	8p22-p12	2008-06-23			ENSG00000159167	ENSG00000159167			11373	protein-coding gene	gene with protein product		601185		STC		9480753	Standard	NM_003155		Approved		uc003xdw.1	P52823	OTTHUMG00000097853	ENST00000290271.2:c.119-2A>T	8.37:g.23709899T>A							p.A40_splice	NM_003155	NP_003146	P52823	STC1_HUMAN		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	2	403	-		Prostate(55;0.055)|Breast(100;0.116)						B4DN22|Q71UE5	Splice_Site	SNP	ENST00000290271.2	37	c.119_splice	CCDS6043.1	.	.	.	.	.	.	.	.	.	.	T	18.22	3.574781	0.65878	.	.	ENSG00000159167	ENST00000290271	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1777	0.65552	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	STC1	23765844	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	7.502000	0.81614	2.044000	0.60594	0.460000	0.39030	.		0.507	STC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215143.1		Intron	19	34	0	0	0	0	19	34				
ZFHX4	79776	broad.mit.edu	37	8	77768159	77768159	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr8:77768159G>A	ENST00000521891.2	+	10	9450	c.9002G>A	c.(9001-9003)gGa>gAa	p.G3001E	ZFHX4_ENST00000518282.1_Missense_Mutation_p.G2975E|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G2956E|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G2956E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2956					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AATCAAGGCGGAACGGAAGGC	0.463										HNSCC(33;0.089)																												uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(8866-8868)GGA>GAA		zinc finger homeodomain 4							46.0	45.0	46.0					8																	77768159		1922	4125	6047	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77768159G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9002G>A	8.37:g.77768159G>A	ENSP00000430497:p.Gly3001Glu	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.G3001E|ZFHX4_uc003yaw.1_Missense_Mutation_p.G2956E	p.G2956E	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	9254	+			2956					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.8867G>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	10.22	1.290738	0.23564	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.47528	0.84;0.89;0.86;0.85	5.17	5.17	0.71159	.	0.000000	0.43579	U	0.000545	T	0.55705	0.1937	L	0.35542	1.07	0.41251	D	0.986715	P;D;D	0.61697	0.92;0.971;0.99	P;P;D	0.63957	0.573;0.754;0.92	T	0.55366	-0.8152	10	0.49607	T	0.09	.	15.2542	0.73571	0.0:0.1405:0.8595:0.0	.	2956;2956;3001	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	E	3001;2985;2956;2956;2975	ENSP00000430497:G3001E;ENSP00000399605:G2956E;ENSP00000050961:G2956E;ENSP00000430848:G2975E	ENSP00000050961:G2956E	G	+	2	0	ZFHX4	77930714	1.000000	0.71417	0.893000	0.35052	0.328000	0.28507	4.961000	0.63681	2.687000	0.91594	0.643000	0.83706	GGA		0.463	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		9	30	0	0	0	0	9	30				
CCNE2	9134	broad.mit.edu	37	8	95894373	95894373	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr8:95894373T>C	ENST00000520509.1	-	11	1340	c.1088A>G	c.(1087-1089)tAt>tGt	p.Y363C	RP11-347C18.5_ENST00000605911.1_RNA|CCNE2_ENST00000308108.4_Missense_Mutation_p.Y363C|CCNE2_ENST00000396133.3_Missense_Mutation_p.Y363C			O96020	CCNE2_HUMAN	cyclin E2	363					cell cycle checkpoint (GO:0000075)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					CATAGCCAAATAGTTTGTATG	0.363																																						uc003yhc.2		NA																	0					0						c.(1087-1089)TAT>TGT		cyclin E2							150.0	142.0	145.0					8																	95894373		2203	4300	6503	SO:0001583	missense	9134				cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding	g.chr8:95894373T>C	AF091433	CCDS6264.1	8q22.1	2005-10-18			ENSG00000175305	ENSG00000175305			1590	protein-coding gene	gene with protein product		603775				9840927, 9840943	Standard	NM_057749		Approved	CYCE2	uc003yhc.3	O96020	OTTHUMG00000164696	ENST00000520509.1:c.1088A>G	8.37:g.95894373T>C	ENSP00000429089:p.Tyr363Cys					CCNE2_uc003yhd.2_Missense_Mutation_p.Y363C	p.Y363C	NM_057749	NP_477097	O96020	CCNE2_HUMAN			11	1197	-	Breast(36;8.75e-07)		363					O95439	Missense_Mutation	SNP	ENST00000520509.1	37	c.1088A>G	CCDS6264.1	.	.	.	.	.	.	.	.	.	.	T	12.97	2.096276	0.36952	.	.	ENSG00000175305	ENST00000520509;ENST00000308108;ENST00000542725;ENST00000396133	T;T;T	0.32515	1.88;1.88;1.45	6.08	4.89	0.63831	Cyclin-like (1);	0.051609	0.85682	D	0.000000	T	0.50531	0.1621	M	0.64997	1.995	0.80722	D	1	B;D	0.89917	0.12;1.0	B;D	0.77557	0.126;0.99	T	0.45116	-0.9283	10	0.39692	T	0.17	.	12.5445	0.56190	0.1249:0.0:0.0:0.8751	.	363;363	Q8WUE3;O96020	.;CCNE2_HUMAN	C	363;363;255;363	ENSP00000429089:Y363C;ENSP00000309181:Y363C;ENSP00000379437:Y363C	ENSP00000309181:Y363C	Y	-	2	0	CCNE2	95963549	1.000000	0.71417	0.981000	0.43875	0.858000	0.48976	4.114000	0.57858	1.066000	0.40716	0.533000	0.62120	TAT		0.363	CCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379808.1	NM_057749, NM_004702		21	76	0	0	0	0	21	76				
VPS13B	157680	broad.mit.edu	37	8	100831673	100831673	+	Silent	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr8:100831673C>T	ENST00000358544.2	+	48	8841	c.8730C>T	c.(8728-8730)ccC>ccT	p.P2910P	VPS13B_ENST00000357162.2_Silent_p.P2885P|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2910					protein transport (GO:0015031)			p.P2885P(1)|p.P2910P(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GTGCAGTTCCCATCTCAACAT	0.363																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(8728-8730)CCC>CCT		vacuolar protein sorting 13B isoform 5							116.0	111.0	113.0					8																	100831673		2203	4300	6503	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100831673C>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.8730C>T	8.37:g.100831673C>T						VPS13B_uc003yiw.2_Silent_p.P2885P	p.P2910P	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		48	8841	+	Breast(36;3.73e-07)		2910					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.8730C>T	CCDS6280.1																																																																																				0.363	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		7	60	0	0	0	0	7	60				
PKHD1L1	93035	broad.mit.edu	37	8	110456987	110456987	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr8:110456987G>C	ENST00000378402.5	+	38	4993	c.4889G>C	c.(4888-4890)aGg>aCg	p.R1630T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1630	IPT/TIG 8.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTTGGTATCAGGGAAACTGTC	0.413										HNSCC(38;0.096)																												uc003yne.2		NA																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(4888-4890)AGG>ACG		fibrocystin L precursor							229.0	228.0	228.0					8																	110456987		1936	4128	6064	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110456987G>C	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.4889G>C	8.37:g.110456987G>C	ENSP00000367655:p.Arg1630Thr	HNSCC(38;0.096)					p.R1630T	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		38	4993	+			1630			Extracellular (Potential).|IPT/TIG 8.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.4889G>C	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	0.269	-0.994267	0.02145	.	.	ENSG00000205038	ENST00000378402	T	0.75367	-0.93	5.73	4.86	0.63082	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.212944	0.41712	D	0.000835	T	0.67832	0.2935	L	0.60455	1.87	0.22266	N	0.999242	B	0.21452	0.056	B	0.32805	0.153	T	0.53641	-0.8410	10	0.08381	T	0.77	.	8.5372	0.33371	0.0812:0.1536:0.7652:0.0	.	1630	Q86WI1	PKHL1_HUMAN	T	1630	ENSP00000367655:R1630T	ENSP00000367655:R1630T	R	+	2	0	PKHD1L1	110526163	1.000000	0.71417	0.849000	0.33467	0.040000	0.13550	4.998000	0.63927	1.561000	0.49584	-0.136000	0.14681	AGG		0.413	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		67	293	0	0	0	0	67	293				
CSMD3	114788	broad.mit.edu	37	8	114327022	114327022	+	Splice_Site	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr8:114327022C>T	ENST00000297405.5	-	2	423	c.179G>A	c.(178-180)gGa>gAa	p.G60E	CSMD3_ENST00000352409.3_Splice_Site_p.G60E|CSMD3_ENST00000455883.2_Splice_Site_p.G60E|CSMD3_ENST00000343508.3_Splice_Site_p.G20E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATAAATAAATCCTGCAACAAA	0.318										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(178-180)GGA>GAA		CUB and Sushi multiple domains 3 isoform 1							66.0	69.0	68.0					8																	114327022		2202	4300	6502	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:114327022C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.179-1G>A	8.37:g.114327022C>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Missense_Mutation_p.G20E|CSMD3_uc011lhx.1_Missense_Mutation_p.G60E|CSMD3_uc010mcx.1_Missense_Mutation_p.G60E|CSMD3_uc003ynx.3_Missense_Mutation_p.G60E	p.G60E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			2	338	-			60			Helical; (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.179G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.928011	0.73327	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.26067	2.27;2.11;1.76;2.12	5.87	5.87	0.94306	.	0.000000	0.56097	D	0.000028	T	0.50701	0.1631	M	0.73753	2.245	0.37550	D	0.918654	D;D;D;P;B	0.89917	0.966;0.997;1.0;0.943;0.018	P;P;D;P;B	0.79784	0.791;0.884;0.993;0.622;0.005	T	0.55205	-0.8177	10	0.52906	T	0.07	.	14.0833	0.64939	0.1504:0.8496:0.0:0.0	.	60;60;60;60;20	Q7Z407-3;Q7Z407-4;Q7Z407-5;Q7Z407;Q7Z407-2	.;.;.;CSMD3_HUMAN;.	E	20;60;60;60	ENSP00000345799:G20E;ENSP00000297405:G60E;ENSP00000412263:G60E;ENSP00000343124:G60E	ENSP00000297405:G60E	G	-	2	0	CSMD3	114396198	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	4.954000	0.63631	2.777000	0.95525	0.557000	0.71058	GGA		0.318	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Missense_Mutation	22	93	0	0	0	0	22	93				
MTBP	27085	broad.mit.edu	37	8	121475947	121475947	+	Silent	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr8:121475947T>C	ENST00000305949.1	+	10	1038	c.993T>C	c.(991-993)agT>agC	p.S331S		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	331					cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TGACAAACAGTACCAAACAGA	0.343																																						uc003ypc.1		NA																	0				skin(2)|ovary(1)	3						c.(991-993)AGT>AGC		Mdm2, transformed 3T3 cell double minute 2, p53							225.0	219.0	221.0					8																	121475947		2203	4300	6503	SO:0001819	synonymous_variant	27085				cell cycle arrest			g.chr8:121475947T>C		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.993T>C	8.37:g.121475947T>C						MTBP_uc011lie.1_RNA	p.S331S	NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		10	1038	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		331					B4DUR5|Q9HA89	Silent	SNP	ENST00000305949.1	37	c.993T>C	CCDS6333.1																																																																																				0.343	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		24	136	0	0	0	0	24	136				
FAM84B	157638	broad.mit.edu	37	8	127569307	127569307	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr8:127569307C>A	ENST00000304916.3	-	2	783	c.328G>T	c.(328-330)Gag>Tag	p.E110*	RP11-89K10.1_ENST00000519880.1_RNA|RP11-89K10.1_ENST00000520512.1_RNA|RP11-103H7.5_ENST00000524320.1_RNA|RP11-89K10.1_ENST00000517773.1_RNA|FAM84B_ENST00000517458.1_5'Flank	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	110						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			AGCAGGTTCTCGGGCGTGTAG	0.617																																						uc003yrz.1		NA																	0					0						c.(328-330)GAG>TAG		family with sequence similarity 84, member B							25.0	28.0	27.0					8																	127569307		2201	4293	6494	SO:0001587	stop_gained	157638					cytoplasm|plasma membrane	protein binding	g.chr8:127569307C>A	AJ417849	CCDS6358.1	8q24.13	2006-02-09				ENSG00000168672			24166	protein-coding gene	gene with protein product	"""breast cancer membrane-associated protein 101"", ""neurological/sensory 2"""	609483				12477722	Standard	NM_174911		Approved	BCMP101, NSE2	uc003yrz.2	Q96KN1		ENST00000304916.3:c.328G>T	8.37:g.127569307C>A	ENSP00000302578:p.Glu110*						p.E110*	NM_174911	NP_777571	Q96KN1	FA84B_HUMAN	STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)		2	612	-	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		110						Nonsense_Mutation	SNP	ENST00000304916.3	37	c.328G>T	CCDS6358.1	.	.	.	.	.	.	.	.	.	.	C	37	6.443290	0.97572	.	.	ENSG00000168672	ENST00000304916	.	.	.	4.4	4.4	0.53042	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-19.2015	15.9657	0.79968	0.0:1.0:0.0:0.0	.	.	.	.	X	110	.	ENSP00000302578:E110X	E	-	1	0	FAM84B	127638489	1.000000	0.71417	0.924000	0.36721	0.150000	0.21749	7.774000	0.85478	1.966000	0.57179	0.313000	0.20887	GAG		0.617	FAM84B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381487.1	NM_174911		25	25	1	0	3.08e-08	3.42e-08	25	25				
PLEC	5339	broad.mit.edu	37	8	144993792	144993792	+	Silent	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr8:144993792C>T	ENST00000322810.4	-	32	10777	c.10608G>A	c.(10606-10608)gtG>gtA	p.V3536V	PLEC_ENST00000354589.3_Silent_p.V3399V|PLEC_ENST00000357649.2_Silent_p.V3403V|PLEC_ENST00000436759.2_Silent_p.V3426V|PLEC_ENST00000354958.2_Silent_p.V3377V|PLEC_ENST00000527096.1_Silent_p.V3422V|PLEC_ENST00000345136.3_Silent_p.V3399V|PLEC_ENST00000356346.3_Silent_p.V3385V|PLEC_ENST00000398774.2_Silent_p.V3367V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3536	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCACGGGGTCCACCAGGAAGC	0.692																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(10606-10608)GTG>GTA		plectin isoform 1							11.0	14.0	13.0					8																	144993792		1928	4114	6042	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144993792C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.10608G>A	8.37:g.144993792C>T						PLEC_uc003zab.1_Silent_p.V3399V|PLEC_uc003zac.1_Silent_p.V3403V|PLEC_uc003zad.2_Silent_p.V3399V|PLEC_uc003zae.1_Silent_p.V3367V|PLEC_uc003zag.1_Silent_p.V3377V|PLEC_uc003zah.2_Silent_p.V3385V|PLEC_uc003zaj.2_Silent_p.V3426V	p.V3536V	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	10778	-			3536			Plectin 13.|Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.10608G>A	CCDS43772.1																																																																																				0.692	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		10	26	0	0	0	0	10	26				
SLC24A2	25769	broad.mit.edu	37	9	19516220	19516220	+	Silent	SNP	G	G	C	rs41270119		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr9:19516220G>C	ENST00000341998.2	-	10	1978	c.1917C>G	c.(1915-1917)ctC>ctG	p.L639L	SLC24A2_ENST00000286344.3_Silent_p.L622L	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	639					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		ACACAAAGTAGAGGCCAAACA	0.493																																						uc003zoa.1		NA																	0				ovary(3)	3						c.(1915-1917)CTC>CTG		solute carrier family 24							166.0	157.0	160.0					9																	19516220		2203	4300	6503	SO:0001819	synonymous_variant	25769				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr9:19516220G>C	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.1917C>G	9.37:g.19516220G>C						SLC24A2_uc003zob.1_Silent_p.L622L	p.L639L	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN		GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)	10	1979	-			639			Helical; (Potential).		B7ZLL8|Q9NTN5|Q9NZQ4	Silent	SNP	ENST00000341998.2	37	c.1917C>G	CCDS6493.1																																																																																				0.493	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344		33	207	0	0	0	0	33	207				
ZCCHC6	79670	broad.mit.edu	37	9	88961250	88961250	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr9:88961250C>G	ENST00000375963.3	-	3	838	c.666G>C	c.(664-666)gaG>gaC	p.E222D	ZCCHC6_ENST00000375961.2_Missense_Mutation_p.E222D|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.E222D|ZCCHC6_ENST00000375947.1_Missense_Mutation_p.E55D|ZCCHC6_ENST00000277141.6_5'UTR	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	222					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TCTTCAGTCTCTCCTCAGCCT	0.423																																						uc004aoq.2		NA																	0				ovary(2)	2						c.(664-666)GAG>GAC		zinc finger, CCHC domain containing 6							243.0	222.0	229.0					9																	88961250		2203	4300	6503	SO:0001583	missense	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88961250C>G	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.666G>C	9.37:g.88961250C>G	ENSP00000365130:p.Glu222Asp					ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.E222D|ZCCHC6_uc004aou.2_Missense_Mutation_p.E222D|ZCCHC6_uc004aov.2_Missense_Mutation_p.E222D|ZCCHC6_uc004aow.2_Missense_Mutation_p.E222D	p.E222D	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN			3	881	-			222					Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	c.666G>C	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.684202	0.68157	.	.	ENSG00000083223	ENST00000375960;ENST00000375961;ENST00000375963;ENST00000427388;ENST00000375947	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.29	1.32	0.21799	.	0.278194	0.35646	N	0.003076	T	0.57844	0.2081	M	0.66939	2.045	0.40384	D	0.97947	D;D;D;D	0.89917	0.998;0.998;1.0;0.999	D;D;D;D	0.83275	0.957;0.915;0.996;0.991	T	0.59112	-0.7515	10	0.59425	D	0.04	-17.0015	10.5466	0.45064	0.0:0.649:0.0:0.351	.	222;222;222;222	Q5VYS8-5;Q5VYS8-2;Q5VYS8-4;Q5VYS8	.;.;.;TUT7_HUMAN	D	222;222;222;55;55	ENSP00000365127:E222D;ENSP00000365128:E222D;ENSP00000365130:E222D;ENSP00000365114:E55D	ENSP00000365114:E55D	E	-	3	2	ZCCHC6	88151070	1.000000	0.71417	0.977000	0.42913	0.739000	0.42172	1.092000	0.30927	0.375000	0.24679	0.484000	0.47621	GAG		0.423	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		30	134	0	0	0	0	30	134				
GRIN3A	116443	broad.mit.edu	37	9	104433149	104433149	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr9:104433149C>G	ENST00000361820.3	-	3	2145	c.1545G>C	c.(1543-1545)ttG>ttC	p.L515F		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	515					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	TAACCACTCTCAAGTGTAGCT	0.507																																						uc004bbp.1		NA																	0				ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(1543-1545)TTG>TTC		glutamate receptor, ionotropic,	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						206.0	181.0	190.0					9																	104433149		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104433149C>G		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1545G>C	9.37:g.104433149C>G	ENSP00000355155:p.Leu515Phe					GRIN3A_uc004bbq.1_Missense_Mutation_p.L515F	p.L515F	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN			3	2146	-		Acute lymphoblastic leukemia(62;0.0568)	515			Extracellular (Potential).		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.1545G>C	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.811662	0.50527	.	.	ENSG00000198785	ENST00000361820	T	0.17054	2.3	5.77	2.39	0.29439	.	0.075685	0.52532	D	0.000063	T	0.19248	0.0462	M	0.80422	2.495	0.58432	D	0.999991	P	0.41569	0.755	B	0.38616	0.277	T	0.02539	-1.1144	10	0.87932	D	0	.	4.6353	0.12521	0.1135:0.6095:0.1112:0.1658	.	515	Q8TCU5	NMD3A_HUMAN	F	515	ENSP00000355155:L515F	ENSP00000355155:L515F	L	-	3	2	GRIN3A	103472970	0.997000	0.39634	0.980000	0.43619	0.986000	0.74619	0.592000	0.23984	0.638000	0.30545	0.655000	0.94253	TTG		0.507	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			26	142	0	0	0	0	26	142				
CYLC2	1539	broad.mit.edu	37	9	105767470	105767470	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr9:105767470A>G	ENST00000374798.3	+	5	627	c.557A>G	c.(556-558)aAg>aGg	p.K186R	CYLC2_ENST00000487798.1_Missense_Mutation_p.K186R	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	186	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				ggaggtgcaaagaaagataac	0.363																																						uc004bbs.2		NA																	0				skin(1)	1						c.(556-558)AAG>AGG		cylicin 2							80.0	77.0	78.0					9																	105767470		2202	4300	6502	SO:0001583	missense	1539				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:105767470A>G	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.557A>G	9.37:g.105767470A>G	ENSP00000420256:p.Lys186Arg						p.K186R	NM_001340	NP_001331	Q14093	CYLC2_HUMAN			5	627	+		all_hematologic(171;0.125)	186			3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.|2.		B2R8F4|Q5VVJ9	Missense_Mutation	SNP	ENST00000374798.3	37	c.557A>G	CCDS35085.1	.	.	.	.	.	.	.	.	.	.	A	11.90	1.775517	0.31411	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.25414	1.8;1.8	4.54	3.4	0.38934	.	0.138096	0.33477	N	0.004869	T	0.35682	0.0940	M	0.81497	2.545	0.09310	N	0.999995	D	0.54047	0.964	P	0.48873	0.593	T	0.21724	-1.0237	10	0.41790	T	0.15	-6.4815	8.3986	0.32572	0.9055:0.0:0.0945:0.0	.	186	Q14093	CYLC2_HUMAN	R	186	ENSP00000420256:K186R;ENSP00000417674:K186R	ENSP00000420256:K186R	K	+	2	0	CYLC2	104807291	1.000000	0.71417	0.839000	0.33178	0.021000	0.10359	4.307000	0.59123	0.882000	0.36016	0.443000	0.29094	AAG		0.363	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340		6	12	0	0	0	0	6	12				
GLE1	2733	broad.mit.edu	37	9	131285595	131285595	+	Silent	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr9:131285595A>G	ENST00000309971.4	+	5	724	c.618A>G	c.(616-618)aaA>aaG	p.K206K	GLE1_ENST00000539582.1_5'UTR|GLE1_ENST00000372770.4_Silent_p.K206K	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	206					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear pore (GO:0005643)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						AGAAGCTAAAAGCTGAGCACC	0.488																																						uc004bvj.2		NA																	0					0						c.(616-618)AAA>AAG		GLE1 RNA export mediator homolog isoform 1							112.0	108.0	109.0					9																	131285595		2203	4300	6503	SO:0001819	synonymous_variant	2733				poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding	g.chr9:131285595A>G	AF058922	CCDS6904.1, CCDS35154.1	9q34.13	2014-09-17	2013-06-18	2007-10-04	ENSG00000119392	ENSG00000119392			4315	protein-coding gene	gene with protein product		603371	"""GLE1 (yeast homolog)-like, RNA export mediator"", ""GLE1 RNA export mediator-like (yeast)"", ""GLE1 RNA export mediator (yeast)"", ""lethal congenital contracture syndrome 1"", ""GLE1 RNA export mediator homolog (yeast)"""	GLE1L, LCCS1		9618489, 18204449	Standard	NM_001499		Approved	hGLE1	uc004bvj.3	Q53GS7	OTTHUMG00000020749	ENST00000309971.4:c.618A>G	9.37:g.131285595A>G						GLE1_uc004bvi.2_Silent_p.K206K|GLE1_uc010myd.2_5'UTR	p.K206K	NM_001003722	NP_001003722	Q53GS7	GLE1_HUMAN			5	732	+			206			Potential.		O75458|Q53GT9|Q5VVU1|Q8NCP6|Q9UFL6	Silent	SNP	ENST00000309971.4	37	c.618A>G	CCDS35154.1																																																																																				0.488	GLE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054456.1	NM_001003722		3	86	0	0	0	0	3	86				
SARDH	1757	broad.mit.edu	37	9	136582547	136582547	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr9:136582547C>A	ENST00000371872.4	-	8	1308	c.1051G>T	c.(1051-1053)Gac>Tac	p.D351Y	SARDH_ENST00000422262.2_Missense_Mutation_p.D183Y|SARDH_ENST00000439388.1_Missense_Mutation_p.D351Y	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	351					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CAGTCCAGGTCAAAGAGGCCG	0.597																																						uc004cep.3		NA																	0					0						c.(1051-1053)GAC>TAC		sarcosine dehydrogenase precursor							89.0	77.0	81.0					9																	136582547		2203	4300	6503	SO:0001583	missense	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136582547C>A		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1051G>T	9.37:g.136582547C>A	ENSP00000360938:p.Asp351Tyr					SARDH_uc004ceo.2_Missense_Mutation_p.D351Y|SARDH_uc011mdn.1_Missense_Mutation_p.D351Y|SARDH_uc011mdo.1_Missense_Mutation_p.D183Y	p.D351Y	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	8	1185	-			351					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	c.1051G>T	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.163880	0.78226	.	.	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000422262;ENST00000427237;ENST00000539227;ENST00000535281	D;D;D	0.83837	-1.77;-1.77;-1.77	3.95	3.95	0.45737	FAD dependent oxidoreductase (1);	0.061176	0.64402	D	0.000006	D	0.91778	0.7399	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.93659	0.6980	10	0.87932	D	0	-38.7506	16.0188	0.80464	0.0:1.0:0.0:0.0	.	351	Q9UL12	SARDH_HUMAN	Y	351;351;183;351;351;351	ENSP00000360938:D351Y;ENSP00000403084:D351Y;ENSP00000415537:D183Y	ENSP00000360938:D351Y	D	-	1	0	SARDH	135572368	1.000000	0.71417	0.995000	0.50966	0.849000	0.48306	7.704000	0.84595	1.760000	0.52011	0.462000	0.41574	GAC		0.597	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			10	43	1	0	2.81e-09	3.14e-09	10	43				
NLGN4X	57502	broad.mit.edu	37	X	6069124	6069124	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:6069124A>C	ENST00000381095.3	-	2	1011	c.384T>G	c.(382-384)ttT>ttG	p.F128L	NLGN4X_ENST00000275857.6_Missense_Mutation_p.F128L|NLGN4X_ENST00000381093.2_Missense_Mutation_p.F128L|NLGN4X_ENST00000538097.1_Missense_Mutation_p.F128L|NLGN4X_ENST00000381092.1_Missense_Mutation_p.F128L|NLGN4X_ENST00000469740.1_5'UTR	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	128					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AATTGGCGGTAAACCAGATGG	0.478																																						uc010ndh.2		NA																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.(382-384)TTT>TTG		X-linked neuroligin 4 precursor							153.0	129.0	137.0					X																	6069124		2203	4300	6503	SO:0001583	missense	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:6069124A>C	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.384T>G	X.37:g.6069124A>C	ENSP00000370485:p.Phe128Leu					NLGN4X_uc004crp.2_Missense_Mutation_p.F128L|NLGN4X_uc004crq.2_Missense_Mutation_p.F128L|NLGN4X_uc010ndi.2_Missense_Mutation_p.F128L|NLGN4X_uc004crr.2_Missense_Mutation_p.F128L|NLGN4X_uc010ndj.2_Missense_Mutation_p.F128L	p.F128L	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN			2	885	-			128			Extracellular (Potential).		Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	c.384T>G	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	A	8.221	0.802559	0.16397	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26	4.08	-0.134	0.13481	Carboxylesterase, type B (1);	.	.	.	.	T	0.49372	0.1553	L	0.33485	1.01	0.51233	D	0.999917	B;B;B	0.28350	0.025;0.208;0.03	B;B;B	0.27715	0.082;0.056;0.028	T	0.15867	-1.0422	9	0.34782	T	0.22	.	7.2557	0.26175	0.6514:0.0:0.3486:0.0	.	128;128;128	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	L	128	ENSP00000370485:F128L;ENSP00000370483:F128L;ENSP00000275857:F128L;ENSP00000370482:F128L;ENSP00000439203:F128L	ENSP00000275857:F128L	F	-	3	2	NLGN4X	6079124	1.000000	0.71417	0.500000	0.27589	0.043000	0.13939	0.777000	0.26718	-0.441000	0.07201	-0.447000	0.05616	TTT		0.478	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		25	90	0	0	0	0	25	90				
TBL1X	6907	broad.mit.edu	37	X	9652149	9652149	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:9652149C>T	ENST00000217964.7	+	6	918	c.278C>T	c.(277-279)aCg>aTg	p.T93M	TBL1X_ENST00000424279.1_Missense_Mutation_p.T42M|TBL1X_ENST00000380961.1_Missense_Mutation_p.T42M|TBL1X_ENST00000536365.1_Missense_Mutation_p.T42M|TBL1X_ENST00000407597.2_Missense_Mutation_p.T93M	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	93	F-box-like.				canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				ATCAATGGGACGCTAGTGCCA	0.567																																						uc010ndq.2		NA																	0				ovary(1)	1						c.(277-279)ACG>ATG		transducin beta-like 1X isoform a							119.0	88.0	99.0					X																	9652149		2203	4300	6503	SO:0001583	missense	6907				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:9652149C>T	Y12781	CCDS14133.1, CCDS48078.1	Xp22.3	2013-01-10	2002-05-22	2002-05-24	ENSG00000101849	ENSG00000101849		"""WD repeat domain containing"""	11585	protein-coding gene	gene with protein product		300196	"""transducin (beta)-like 1"""	TBL1		10330347	Standard	NM_005647		Approved	EBI	uc004csr.3	O60907	OTTHUMG00000021117	ENST00000217964.7:c.278C>T	X.37:g.9652149C>T	ENSP00000217964:p.Thr93Met					TBL1X_uc004csq.3_Missense_Mutation_p.T42M|TBL1X_uc010ndr.2_Missense_Mutation_p.T42M|TBL1X_uc004csr.2_Missense_Mutation_p.T93M|TBL1X_uc004css.2_Missense_Mutation_p.T44M	p.T93M	NM_001139466	NP_001132938	O60907	TBL1X_HUMAN			6	646	+		Hepatocellular(5;0.000888)	93			F-box-like.		A8K044|A8K4J7|Q86UY2	Missense_Mutation	SNP	ENST00000217964.7	37	c.278C>T	CCDS14133.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.365666	0.82463	.	.	ENSG00000101849	ENST00000407597;ENST00000424279;ENST00000536365;ENST00000380961;ENST00000415293;ENST00000217964;ENST00000422314	T;T;T;T;T	0.57107	0.42;0.54;0.54;0.54;0.42	4.21	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.52500	0.1738	N	0.24115	0.695	0.58432	D	0.999998	D;D	0.64830	0.989;0.994	P;P	0.55455	0.776;0.776	T	0.54132	-0.8339	10	0.37606	T	0.19	.	16.2719	0.82626	0.0:1.0:0.0:0.0	.	56;93	Q59F53;O60907	.;TBL1X_HUMAN	M	93;42;42;42;42;93;42	ENSP00000385988:T93M;ENSP00000394097:T42M;ENSP00000445317:T42M;ENSP00000370348:T42M;ENSP00000217964:T93M	ENSP00000217964:T93M	T	+	2	0	TBL1X	9612149	1.000000	0.71417	0.891000	0.34965	0.654000	0.38779	7.285000	0.78660	1.835000	0.53391	0.538000	0.68166	ACG		0.567	TBL1X-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055709.1	NM_005647		16	60	0	0	0	0	16	60				
OFD1	8481	broad.mit.edu	37	X	13769430	13769430	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:13769430A>G	ENST00000340096.6	+	10	1325	c.998A>G	c.(997-999)cAg>cGg	p.Q333R	OFD1_ENST00000398395.3_Missense_Mutation_p.Q333R|OFD1_ENST00000380567.1_Missense_Mutation_p.Q193R|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Intron	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	333					axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AGACAGGAGCAGAATATAAAG	0.303																																						uc004cvp.3		NA																	0					0						c.(997-999)CAG>CGG		oral-facial-digital syndrome 1							62.0	58.0	59.0					X																	13769430		2203	4300	6503	SO:0001583	missense	8481				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13769430A>G	Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.998A>G	X.37:g.13769430A>G	ENSP00000344314:p.Gln333Arg					OFD1_uc004cvr.3_5'UTR|OFD1_uc011mil.1_5'UTR|OFD1_uc004cvq.3_Missense_Mutation_p.Q193R|OFD1_uc010nen.2_Missense_Mutation_p.Q332R|OFD1_uc004cvs.3_Intron|OFD1_uc004cvu.3_Intron|OFD1_uc004cvv.3_Intron|OFD1_uc010neo.1_Intron	p.Q333R	NM_003611	NP_003602	O75665	OFD1_HUMAN			10	1357	+			333			Potential.		B9ZVU5|O75666|Q4VAK4	Missense_Mutation	SNP	ENST00000340096.6	37	c.998A>G	CCDS14157.1	.	.	.	.	.	.	.	.	.	.	.	6.738	0.504864	0.12822	.	.	ENSG00000046651	ENST00000398395;ENST00000340096;ENST00000380567	D;D;D	0.95554	-3.49;-3.74;-1.66	5.63	3.14	0.36123	.	0.265631	0.37906	N	0.001900	D	0.89291	0.6673	L	0.36672	1.1	0.22366	N	0.999169	P;P	0.38420	0.589;0.63	B;B	0.32211	0.142;0.131	T	0.78298	-0.2258	10	0.15952	T	0.53	-3.205	9.3144	0.37926	0.3871:0.0:0.0:0.6129	.	193;333	A6NF31;O75665	.;OFD1_HUMAN	R	333;333;193	ENSP00000381432:Q333R;ENSP00000344314:Q333R;ENSP00000369941:Q193R	ENSP00000344314:Q333R	Q	+	2	0	OFD1	13679351	1.000000	0.71417	0.144000	0.22314	0.871000	0.50021	3.118000	0.50414	0.232000	0.21100	0.417000	0.27973	CAG		0.303	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611		24	48	0	0	0	0	24	48				
PRDX4	10549	broad.mit.edu	37	X	23700515	23700515	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:23700515G>A	ENST00000379341.4	+	5	727	c.602G>A	c.(601-603)gGt>gAt	p.G201D		NM_006406.1	NP_006397.1	Q13162	PRDX4_HUMAN	peroxiredoxin 4	201	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|I-kappaB phosphorylation (GO:0007252)|male gonad development (GO:0008584)|negative regulation of male germ cell proliferation (GO:2000255)|protein maturation by protein folding (GO:0022417)|reactive oxygen species metabolic process (GO:0072593)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	thioredoxin peroxidase activity (GO:0008379)	p.G201D(1)		lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						TTTTACAGAGGTCTCTTCATT	0.373																																						uc004dam.2		NA																	1	Substitution - Missense(1)	p.G201D(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)	1						c.(601-603)GGT>GAT		peroxiredoxin 4							90.0	83.0	85.0					X																	23700515		2203	4300	6503	SO:0001583	missense	10549				cell redox homeostasis|I-kappaB phosphorylation		thioredoxin peroxidase activity	g.chrX:23700515G>A	U25182	CCDS14206.1	Xp22.11	2012-09-20			ENSG00000123131	ENSG00000123131			17169	protein-coding gene	gene with protein product		300927				9388242	Standard	XM_005274438		Approved	AOE37-2	uc004dam.3	Q13162	OTTHUMG00000021253	ENST00000379341.4:c.602G>A	X.37:g.23700515G>A	ENSP00000368646:p.Gly201Asp						p.G201D	NM_006406	NP_006397	Q13162	PRDX4_HUMAN			5	645	+			201			Thioredoxin.		Q6FHT3	Missense_Mutation	SNP	ENST00000379341.4	37	c.602G>A	CCDS14206.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.951038	0.92660	.	.	ENSG00000123131	ENST00000379341	T	0.30714	1.52	5.85	5.85	0.93711	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.76004	0.3927	H	0.99516	4.605	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87209	0.2246	10	0.87932	D	0	-9.6826	19.1271	0.93390	0.0:0.0:1.0:0.0	.	201	Q13162	PRDX4_HUMAN	D	201	ENSP00000368646:G201D	ENSP00000368646:G201D	G	+	2	0	PRDX4	23610436	1.000000	0.71417	0.997000	0.53966	0.960000	0.62799	9.869000	0.99810	2.467000	0.83353	0.594000	0.82650	GGT		0.373	PRDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056049.1	NM_006406		12	37	0	0	0	0	12	37				
FAM47C	442444	broad.mit.edu	37	X	37027222	37027222	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:37027222C>T	ENST00000358047.3	+	1	791	c.739C>T	c.(739-741)Cgc>Tgc	p.R247C		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	247										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GTCCCATCTCCGCCCAGAGCC	0.627																																						uc004ddl.1		NA																	0				ovary(3)	3						c.(739-741)CGC>TGC		hypothetical protein LOC442444							53.0	50.0	51.0					X																	37027222		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37027222C>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.739C>T	X.37:g.37027222C>T	ENSP00000367913:p.Arg247Cys						p.R247C	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	753	+			247					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.739C>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	c	1.813	-0.474182	0.04414	.	.	ENSG00000198173	ENST00000358047	T	0.21543	2.0	0.959	-1.92	0.07618	.	.	.	.	.	T	0.11750	0.0286	L	0.31065	0.9	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29549	-1.0008	9	0.52906	T	0.07	.	1.5054	0.02485	0.3313:0.3568:0.0:0.3118	.	247	Q5HY64	FA47C_HUMAN	C	247	ENSP00000367913:R247C	ENSP00000367913:R247C	R	+	1	0	FAM47C	36937143	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-1.500000	0.02283	-0.865000	0.04073	-0.872000	0.02987	CGC		0.627	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		18	66	0	0	0	0	18	66				
NDUFB11	54539	broad.mit.edu	37	X	47002066	47002066	+	Silent	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:47002066G>A	ENST00000377811.3	-	2	1109	c.285C>T	c.(283-285)gtC>gtT	p.V95V	RBM10_ENST00000377604.3_5'Flank|NDUFB11_ENST00000276062.8_Silent_p.V95V|RBM10_ENST00000329236.7_5'Flank|RBM10_ENST00000345781.6_5'Flank	NM_001135998.2	NP_001129470.1	Q9NX14	NDUBB_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa	95					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7						GGATGATGGAGACGCCAAAGA	0.537																																					Ovarian(77;454 1296 7908 21551 37072)	uc004dhd.2		NA																	0					0						c.(283-285)GTC>GTT		NADH dehydrogenase (ubiquinone) 1 beta							180.0	139.0	153.0					X																	47002066		2203	4300	6503	SO:0001819	synonymous_variant	54539				respiratory electron transport chain|transport	integral to membrane|mitochondrial respiratory chain complex I		g.chrX:47002066G>A	AF044213	CCDS14273.1, CCDS48100.1	Xp11.3	2011-07-04			ENSG00000147123	ENSG00000147123		"""Mitochondrial respiratory chain complex / Complex I"""	20372	protein-coding gene	gene with protein product	"""complex I NP17.3 subunit"""	300403				10544803, 12381726	Standard	NM_019056		Approved	ESSS, NP17.3, Np15	uc004dhc.3	Q9NX14	OTTHUMG00000021433	ENST00000377811.3:c.285C>T	X.37:g.47002066G>A						NDUFB11_uc004dhc.2_Silent_p.V95V|RBM10_uc004dhe.1_5'Flank|RBM10_uc004dhf.2_5'Flank|RBM10_uc004dhg.2_5'Flank|RBM10_uc004dhh.2_5'Flank|RBM10_uc010nhq.2_5'Flank|RBM10_uc004dhi.2_5'Flank	p.V95V	NM_001135998	NP_001129470	Q9NX14	NDUBB_HUMAN			2	816	-			95			Helical; (Potential).		Q5JRR3|Q5JRR4|Q6IAB6|Q8WZ96|Q9BXX9	Silent	SNP	ENST00000377811.3	37	c.285C>T	CCDS48100.1																																																																																				0.537	NDUFB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056382.1	NM_019056		27	61	0	0	0	0	27	61				
HDAC6	10013	broad.mit.edu	37	X	48665100	48665100	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:48665100A>T	ENST00000334136.5	+	8	797	c.619A>T	c.(619-621)Atg>Ttg	p.M207L	HDAC6_ENST00000469223.1_3'UTR|HDAC6_ENST00000376619.2_Missense_Mutation_p.M207L|HDAC6_ENST00000444343.2_Missense_Mutation_p.M221L|HDAC6_ENST00000413163.2_Missense_Mutation_p.M152L			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	207	Histone deacetylase 1.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)	p.M207L(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	CCGGAATGGCATGGCCATCAT	0.473																																					Pancreas(112;205 1675 2305 8976 15959)	uc011mmi.1		NA																	1	Substitution - Missense(1)	p.M207L(1)	upper_aerodigestive_tract(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(619-621)ATG>TTG		histone deacetylase 6	Vorinostat(DB02546)						72.0	56.0	62.0					X																	48665100		2203	4300	6503	SO:0001583	missense	10013				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	g.chrX:48665100A>T	AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.619A>T	X.37:g.48665100A>T	ENSP00000334061:p.Met207Leu					HDAC6_uc004dks.1_Missense_Mutation_p.M207L|HDAC6_uc010nig.1_Missense_Mutation_p.M55L|HDAC6_uc004dkt.1_Missense_Mutation_p.M207L|HDAC6_uc004dku.3_3'UTR|HDAC6_uc011mmj.1_Missense_Mutation_p.M152L|HDAC6_uc011mmk.1_Missense_Mutation_p.M188L	p.M207L	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN			8	714	+			207			Histone deacetylase 1.		O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	37	c.619A>T	CCDS14306.1	.	.	.	.	.	.	.	.	.	.	A	8.265	0.812048	0.16537	.	.	ENSG00000094631	ENST00000376643;ENST00000444343;ENST00000376610;ENST00000334136;ENST00000376619;ENST00000436813;ENST00000413163;ENST00000426196	T;T;T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31	4.94	3.83	0.44106	Histone deacetylase domain (2);	0.151040	0.44483	D	0.000442	T	0.36082	0.0954	N	0.04245	-0.25	0.35188	D	0.773158	B;B;B	0.18610	0.029;0.002;0.029	B;B;B	0.21917	0.037;0.023;0.037	T	0.32666	-0.9898	10	0.12103	T	0.63	-20.8854	4.2301	0.10599	0.5459:0.283:0.0:0.1712	.	197;152;207	B4DZN1;E7EUZ1;Q9UBN7	.;.;HDAC6_HUMAN	L	207;221;207;207;207;207;152;207	ENSP00000365831:M207L;ENSP00000398566:M221L;ENSP00000365795:M207L;ENSP00000334061:M207L;ENSP00000365804:M207L;ENSP00000398801:M152L;ENSP00000402189:M207L	ENSP00000334061:M207L	M	+	1	0	HDAC6	48550044	0.919000	0.31177	1.000000	0.80357	0.903000	0.53119	1.239000	0.32719	1.642000	0.50584	0.430000	0.28490	ATG		0.473	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		13	31	0	0	0	0	13	31				
HEPH	9843	broad.mit.edu	37	X	65392280	65392280	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:65392280A>T	ENST00000343002.2	+	2	915	c.251A>T	c.(250-252)gAc>gTc	p.D84V	HEPH_ENST00000441993.2_Missense_Mutation_p.D87V|HEPH_ENST00000336279.5_5'UTR|HEPH_ENST00000419594.1_Missense_Mutation_p.D87V|HEPH_ENST00000519389.1_Missense_Mutation_p.D138V|HEPH_ENST00000374727.3_Missense_Mutation_p.D87V			Q9BQS7	HEPH_HUMAN	hephaestin	84	Plastocyanin-like 1.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TACAAGGATGACTCATACACA	0.478																																						uc011moz.1		NA																	0				lung(5)|ovary(4)	9						c.(259-261)GAC>GTC		hephaestin isoform a							74.0	64.0	67.0					X																	65392280		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65392280A>T	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.251A>T	X.37:g.65392280A>T	ENSP00000343939:p.Asp84Val					HEPH_uc004dwn.2_Missense_Mutation_p.D87V|HEPH_uc004dwo.2_5'UTR|HEPH_uc010nkr.2_Missense_Mutation_p.D87V|HEPH_uc011mpa.1_Missense_Mutation_p.D87V	p.D87V	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN			3	320	+			84			Extracellular (Potential).|Plastocyanin-like 1.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.260A>T		.	.	.	.	.	.	.	.	.	.	A	5.774	0.327247	0.10900	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000458621;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	D;D;D;D;D;D;D	0.98807	-5.15;-5.15;-5.15;-5.15;-5.15;-5.15;-5.15	4.83	0.0324	0.14175	Cupredoxin (2);	1.353990	0.04212	N	0.331878	D	0.97408	0.9152	L	0.58583	1.82	0.09310	N	1	B;B;B	0.29671	0.093;0.175;0.254	B;B;B	0.36186	0.102;0.054;0.219	D	0.92047	0.5645	10	0.46703	T	0.11	.	6.1545	0.20330	0.2734:0.2281:0.4986:0.0	.	138;87;84	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	V	138;87;84;87;87;84;84	ENSP00000430620:D138V;ENSP00000363859:D87V;ENSP00000396907:D84V;ENSP00000411687:D87V;ENSP00000413211:D87V;ENSP00000343939:D84V;ENSP00000398078:D84V	ENSP00000343939:D84V	D	+	2	0	HEPH	65309005	0.000000	0.05858	0.000000	0.03702	0.145000	0.21501	0.362000	0.20284	-0.355000	0.08199	0.481000	0.45027	GAC		0.478	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		13	41	0	0	0	0	13	41				
HEPH	9843	broad.mit.edu	37	X	65393633	65393633	+	Silent	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:65393633C>T	ENST00000343002.2	+	3	1279	c.615C>T	c.(613-615)acC>acT	p.T205T	HEPH_ENST00000441993.2_Silent_p.T208T|HEPH_ENST00000336279.5_5'UTR|HEPH_ENST00000419594.1_Silent_p.T208T|HEPH_ENST00000519389.1_Silent_p.T259T|HEPH_ENST00000374727.3_Silent_p.T208T			Q9BQS7	HEPH_HUMAN	hephaestin	205	Plastocyanin-like 1.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CTCTCATCACCTGTAAAAGAG	0.498																																						uc011moz.1		NA																	0				lung(5)|ovary(4)	9						c.(622-624)ACC>ACT		hephaestin isoform a							44.0	29.0	34.0					X																	65393633		2202	4297	6499	SO:0001819	synonymous_variant	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65393633C>T	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.615C>T	X.37:g.65393633C>T						HEPH_uc004dwn.2_Silent_p.T208T|HEPH_uc004dwo.2_5'UTR|HEPH_uc010nkr.2_Silent_p.T208T|HEPH_uc011mpa.1_Silent_p.T208T	p.T208T	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN			4	684	+			205			Extracellular (Potential).|Plastocyanin-like 1.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Silent	SNP	ENST00000343002.2	37	c.624C>T																																																																																					0.498	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		5	13	0	0	0	0	5	13				
TAF1	6872	broad.mit.edu	37	X	70612527	70612527	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:70612527T>A	ENST00000373790.4	+	19	2938	c.2887T>A	c.(2887-2889)Ttc>Atc	p.F963I	TAF1_ENST00000276072.3_Missense_Mutation_p.F984I|TAF1_ENST00000449580.1_Missense_Mutation_p.F963I|TAF1_ENST00000423759.1_Missense_Mutation_p.F984I	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	963	Histone acetyltransferase (HAT).				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TGGTGAAGGATTCTCCTATGT	0.488																																						uc004dzu.3		NA																	0				ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17						c.(2887-2889)TTC>ATC		TBP-associated factor 1 isoform 2							84.0	74.0	77.0					X																	70612527		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70612527T>A		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.2887T>A	X.37:g.70612527T>A	ENSP00000362895:p.Phe963Ile					BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.F984I|TAF1_uc004dzv.3_Missense_Mutation_p.F137I	p.F963I	NM_138923	NP_620278	P21675	TAF1_HUMAN			19	2938	+	Renal(35;0.156)	all_lung(315;0.000321)	963					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.2887T>A	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	25.6	4.656281	0.88056	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.15139	2.45;2.45;2.45;2.45	4.81	4.81	0.61882	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.112582	0.64402	D	0.000003	T	0.39064	0.1064	M	0.71206	2.165	0.80722	D	1	D;P;P	0.59357	0.985;0.95;0.938	D;D;P	0.64687	0.924;0.928;0.881	T	0.29852	-0.9998	10	0.87932	D	0	.	13.7641	0.62983	0.0:0.0:0.0:1.0	.	963;963;984	P21675-4;P21675;P21675-2	.;TAF1_HUMAN;.	I	963;963;984;984	ENSP00000362895:F963I;ENSP00000389000:F963I;ENSP00000406549:F984I;ENSP00000276072:F984I	ENSP00000276072:F984I	F	+	1	0	TAF1	70529252	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.655000	0.83696	1.694000	0.51137	0.441000	0.28932	TTC		0.488	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		17	78	0	0	0	0	17	78				
GPR174	84636	broad.mit.edu	37	X	78427029	78427029	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:78427029G>C	ENST00000276077.1	+	1	561	c.525G>C	c.(523-525)agG>agC	p.R175S		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						TTCCTACCAGGAATGTCAACC	0.483										HNSCC(63;0.18)																												uc004edg.1		NA																	0				lung(1)|central_nervous_system(1)	2						c.(523-525)AGG>AGC		putative purinergic receptor FKSG79							124.0	105.0	111.0					X																	78427029		2203	4300	6503	SO:0001583	missense	84636					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78427029G>C	AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"""GPCR / Class A : Orphans"""	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.525G>C	X.37:g.78427029G>C	ENSP00000276077:p.Arg175Ser	HNSCC(63;0.18)					p.R175S	NM_032553	NP_115942	Q9BXC1	GP174_HUMAN			1	561	+			175			Extracellular (Potential).		Q2M3F7	Missense_Mutation	SNP	ENST00000276077.1	37	c.525G>C	CCDS14443.1	.	.	.	.	.	.	.	.	.	.	g	10.06	1.246279	0.22796	.	.	ENSG00000147138	ENST00000276077	T	0.31510	1.49	5.08	3.32	0.38043	GPCR, rhodopsin-like superfamily (1);	0.463268	0.23975	N	0.042727	T	0.17534	0.0421	N	0.05031	-0.125	0.29988	N	0.81715	B	0.27166	0.17	B	0.37943	0.261	T	0.32107	-0.9919	10	0.15952	T	0.53	.	10.0355	0.42127	0.1545:0.0:0.8455:0.0	.	175	Q9BXC1	GP174_HUMAN	S	175	ENSP00000276077:R175S	ENSP00000276077:R175S	R	+	3	2	GPR174	78313685	0.063000	0.20901	0.987000	0.45799	0.490000	0.33462	2.104000	0.41815	0.383000	0.24910	-0.550000	0.04213	AGG		0.483	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057327.1	NM_032553		19	64	0	0	0	0	19	64				
TBX22	50945	broad.mit.edu	37	X	79283536	79283536	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:79283536T>C	ENST00000373294.5	+	7	938	c.910T>C	c.(910-912)Ttc>Ctc	p.F304L	TBX22_ENST00000442340.1_Missense_Mutation_p.F184L|TBX22_ENST00000373296.3_Missense_Mutation_p.F304L|TBX22_ENST00000373291.1_Missense_Mutation_p.F184L	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	304					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GAGGCCTTCTTTCACTCTCGA	0.368																																						uc010nmg.1		NA																	0				lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						c.(910-912)TTC>CTC		T-box 22 isoform 1							96.0	88.0	91.0					X																	79283536		2203	4300	6503	SO:0001583	missense	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79283536T>C	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.910T>C	X.37:g.79283536T>C	ENSP00000362390:p.Phe304Leu					TBX22_uc004edi.1_Missense_Mutation_p.F184L|TBX22_uc004edj.1_Missense_Mutation_p.F304L	p.F304L	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN			8	1044	+			304					Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	37	c.910T>C	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	T	0.645	-0.811886	0.02798	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	D;D;D;D	0.85171	-1.95;-1.68;-1.95;-1.68	3.88	0.267	0.15622	.	0.290613	0.27362	N	0.019703	T	0.51058	0.1652	N	0.01048	-1.04	0.34086	D	0.660152	B	0.02656	0.0	B	0.01281	0.0	T	0.48875	-0.8996	10	0.06494	T	0.89	.	3.5406	0.07809	0.172:0.4438:0.0:0.3842	.	304	Q9Y458	TBX22_HUMAN	L	304;184;304;184	ENSP00000362393:F304L;ENSP00000396394:F184L;ENSP00000362390:F304L;ENSP00000362388:F184L	ENSP00000362388:F184L	F	+	1	0	TBX22	79170192	0.840000	0.29493	0.982000	0.44146	0.579000	0.36224	0.157000	0.16402	-0.146000	0.11274	-0.239000	0.12128	TTC		0.368	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		13	56	0	0	0	0	13	56				
HDX	139324	broad.mit.edu	37	X	83724401	83724401	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:83724401T>C	ENST00000297977.5	-	3	441	c.330A>G	c.(328-330)atA>atG	p.I110M	HDX_ENST00000506585.2_Missense_Mutation_p.I52M|HDX_ENST00000373177.2_Missense_Mutation_p.I110M	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	110						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.I110M(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CTGGACTGTATATACCAGTTA	0.408													T|||	2	0.000529801	0.0	0.0029	3775	,	,		14182	0.0		0.0	False		,,,				2504	0.0				Pancreas(53;231 1169 36156 43751 51139)	uc004eek.1		NA																	1	Substitution - Missense(1)	p.I110M(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(328-330)ATA>ATG		highly divergent homeobox							187.0	159.0	169.0					X																	83724401		2203	4300	6503	SO:0001583	missense	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83724401T>C	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.330A>G	X.37:g.83724401T>C	ENSP00000297977:p.Ile110Met					HDX_uc011mqv.1_Missense_Mutation_p.I110M|HDX_uc004eel.1_Missense_Mutation_p.I52M	p.I110M	NM_144657	NP_653258	Q7Z353	HDX_HUMAN			3	439	-			110					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	ENST00000297977.5	37	c.330A>G	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	T	8.507	0.865592	0.17250	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585;ENST00000449553	T;T;T;T	0.56776	1.55;1.15;1.55;0.44	4.75	2.11	0.27256	.	0.167865	0.51477	D	0.000081	T	0.42177	0.1191	L	0.58101	1.795	0.33329	D	0.568289	P	0.42123	0.771	B	0.39617	0.305	T	0.55792	-0.8085	10	0.87932	D	0	-17.5866	2.8451	0.05540	0.1293:0.0826:0.2415:0.5466	.	110	Q7Z353	HDX_HUMAN	M	110;52;110;52	ENSP00000297977:I110M;ENSP00000362272:I52M;ENSP00000423670:I110M;ENSP00000387790:I52M	ENSP00000297977:I110M	I	-	3	3	HDX	83611057	1.000000	0.71417	0.995000	0.50966	0.534000	0.34807	1.056000	0.30480	0.719000	0.32188	0.417000	0.27973	ATA		0.408	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		28	89	0	0	0	0	28	89				
TCEAL7	56849	broad.mit.edu	37	X	102586386	102586386	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:102586386A>T	ENST00000332431.4	+	3	309	c.55A>T	c.(55-57)Agg>Tgg	p.R19W	TCEAL7_ENST00000372666.1_Missense_Mutation_p.R19W	NM_152278.3	NP_689491.1	Q9BRU2	TCAL7_HUMAN	transcription elongation factor A (SII)-like 7	19					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.R19W(1)		endometrium(1)|upper_aerodigestive_tract(1)	2						cgtgccaaagagggaggaaaa	0.433																																						uc004ekc.1		NA																	1	Substitution - Missense(1)	p.R19W(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)	1						c.(55-57)AGG>TGG		transcription elongation factor A (SII)-like 7							42.0	38.0	39.0					X																	102586386		2198	4266	6464	SO:0001583	missense	56849				negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:102586386A>T	BC016786	CCDS14506.1	Xq22.1	2014-03-21			ENSG00000182916	ENSG00000182916			28336	protein-coding gene	gene with protein product		300771				14702039, 16221301	Standard	NM_152278		Approved	MGC23947, WEX5	uc004ekc.2	Q9BRU2	OTTHUMG00000022096	ENST00000332431.4:c.55A>T	X.37:g.102586386A>T	ENSP00000329794:p.Arg19Trp						p.R19W	NM_152278	NP_689491	Q9BRU2	TCAL7_HUMAN			3	268	+			19					B3KSV2|Q96AT4	Missense_Mutation	SNP	ENST00000332431.4	37	c.55A>T	CCDS14506.1	.	.	.	.	.	.	.	.	.	.	A	17.81	3.480408	0.63849	.	.	ENSG00000182916	ENST00000332431;ENST00000372666	T;T	0.10099	2.91;2.91	4.07	1.49	0.22878	.	0.000000	0.40144	N	0.001173	T	0.07503	0.0189	L	0.36672	1.1	0.28939	N	0.89111	B	0.06786	0.001	B	0.06405	0.002	T	0.17349	-1.0372	10	0.66056	D	0.02	-7.6947	3.898	0.09147	0.5602:0.2219:0.0:0.2179	.	19	Q9BRU2	TCAL7_HUMAN	W	19	ENSP00000329794:R19W;ENSP00000361751:R19W	ENSP00000329794:R19W	R	+	1	2	TCEAL7	102473042	0.844000	0.29557	0.990000	0.47175	0.994000	0.84299	0.635000	0.24629	0.182000	0.20032	0.481000	0.45027	AGG		0.433	TCEAL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057704.1	NM_152278		3	8	0	0	0	0	3	8				
VSIG1	340547	broad.mit.edu	37	X	107301344	107301344	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:107301344C>G	ENST00000217957.5	+	2	243	c.126C>G	c.(124-126)atC>atG	p.I42M	VSIG1_ENST00000415430.3_Missense_Mutation_p.I42M	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	42	Ig-like V-type 1.					integral component of membrane (GO:0016021)		p.I42M(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						TCACTCTCATCTGCATCTACA	0.448																																						uc004eno.2		NA																	2	Substitution - Missense(2)	p.I42M(2)	upper_aerodigestive_tract(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(124-126)ATC>ATG		V-set and immunoglobulin domain containing 1							238.0	170.0	193.0					X																	107301344		2203	4300	6503	SO:0001583	missense	340547					integral to membrane		g.chrX:107301344C>G	BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.126C>G	X.37:g.107301344C>G	ENSP00000217957:p.Ile42Met					VSIG1_uc011msk.1_Missense_Mutation_p.I42M	p.I42M	NM_182607	NP_872413	Q86XK7	VSIG1_HUMAN			2	287	+			42			Extracellular (Potential).|Ig-like V-type 1.		C9J4P2|Q6MZS4	Missense_Mutation	SNP	ENST00000217957.5	37	c.126C>G	CCDS14535.1	.	.	.	.	.	.	.	.	.	.	C	9.765	1.171034	0.21621	.	.	ENSG00000101842	ENST00000415430;ENST00000217957;ENST00000458383	T;T;T	0.65178	-0.14;-0.14;-0.14	5.33	4.45	0.53987	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.314140	0.04931	N	0.456864	T	0.57359	0.2048	L	0.36672	1.1	0.20764	N	0.99986	B;B	0.20887	0.049;0.039	B;B	0.21546	0.035;0.023	T	0.48917	-0.8992	10	0.54805	T	0.06	.	10.4878	0.44733	0.0:0.8091:0.1909:0.0	.	42;42	C9J4P2;Q86XK7	.;VSIG1_HUMAN	M	42	ENSP00000402219:I42M;ENSP00000217957:I42M;ENSP00000407102:I42M	ENSP00000217957:I42M	I	+	3	3	VSIG1	107188000	1.000000	0.71417	0.833000	0.33012	0.427000	0.31564	1.478000	0.35442	1.184000	0.42957	0.600000	0.82982	ATC		0.448	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057858.1	NM_182607		19	56	0	0	0	0	19	56				
IL13RA2	3598	broad.mit.edu	37	X	114238663	114238663	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:114238663C>T	ENST00000371936.1	-	11	1372	c.1123G>A	c.(1123-1125)Gaa>Aaa	p.E375K	IL13RA2_ENST00000243213.1_Missense_Mutation_p.E375K			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	375					cytokine-mediated signaling pathway (GO:0019221)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)	p.E375K(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						CAGAAAAATTCTGGAATCTAG	0.333																																						uc004epx.2		NA																	1	Substitution - Missense(1)	p.E375K(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3						c.(1123-1125)GAA>AAA		interleukin 13 receptor, alpha 2 precursor							77.0	68.0	71.0					X																	114238663		2201	4295	6496	SO:0001583	missense	3598					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity	g.chrX:114238663C>T	X95302	CCDS14565.1	Xq23	2014-01-21			ENSG00000123496	ENSG00000123496		"""Interleukins and interleukin receptors"", ""CD molecules"""	5975	protein-coding gene	gene with protein product	"""cancer/testis antigen 19"""	300130				8663118, 9083087	Standard	NM_000640		Approved	IL-13R, IL13BP, CD213a2, CT19	uc004epx.3	Q14627	OTTHUMG00000022229	ENST00000371936.1:c.1123G>A	X.37:g.114238663C>T	ENSP00000361004:p.Glu375Lys						p.E375K	NM_000640	NP_000631	Q14627	I13R2_HUMAN			10	1248	-			375			Cytoplasmic (Potential).		A8K7E2|O00667	Missense_Mutation	SNP	ENST00000371936.1	37	c.1123G>A	CCDS14565.1	.	.	.	.	.	.	.	.	.	.	C	9.251	1.040683	0.19669	.	.	ENSG00000123496	ENST00000371936;ENST00000243213	D;D	0.90069	-2.61;-2.61	3.7	3.7	0.42460	.	3.107050	0.01480	U	0.016649	D	0.86727	0.6002	L	0.57536	1.79	0.26652	N	0.972072	B	0.33694	0.421	B	0.27500	0.08	T	0.72168	-0.4372	10	0.25106	T	0.35	-0.2137	9.9454	0.41604	0.0:1.0:0.0:0.0	.	375	Q14627	I13R2_HUMAN	K	375	ENSP00000361004:E375K;ENSP00000243213:E375K	ENSP00000243213:E375K	E	-	1	0	IL13RA2	114144919	0.970000	0.33590	0.883000	0.34634	0.008000	0.06430	2.927000	0.48900	2.098000	0.63641	0.600000	0.82982	GAA		0.333	IL13RA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057966.1	NM_000640		6	16	0	0	0	0	6	16				
IGSF1	3547	broad.mit.edu	37	X	130415220	130415220	+	Silent	SNP	T	T	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:130415220T>G	ENST00000361420.3	-	9	1697	c.1618A>C	c.(1618-1620)Agg>Cgg	p.R540R	IGSF1_ENST00000370904.1_Silent_p.R531R|IGSF1_ENST00000370903.3_Silent_p.R540R|IGSF1_ENST00000370910.1_Silent_p.R531R			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	540					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CACTTCCACCTTATCCACAGC	0.493																																						uc004ewd.2		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)	5						c.(1618-1620)AGG>CGG		immunoglobulin superfamily, member 1 isoform 1							249.0	212.0	224.0					X																	130415220		2203	4300	6503	SO:0001819	synonymous_variant	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130415220T>G	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.1618A>C	X.37:g.130415220T>G						IGSF1_uc004ewe.3_Silent_p.R529R|IGSF1_uc004ewf.2_Silent_p.R520R	p.R540R	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN			9	1856	-			540			Cytoplasmic (Potential).		B5MEG2|H9KV64|O15070|Q9NTC8	Silent	SNP	ENST00000361420.3	37	c.1618A>C	CCDS14629.1																																																																																				0.493	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			78	215	0	0	0	0	78	215				
MCF2	4168	broad.mit.edu	37	X	138686866	138686866	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:138686866T>A	ENST00000370576.4	-	15	1926	c.1717A>T	c.(1717-1719)Aga>Tga	p.R573*	MCF2_ENST00000370573.4_Nonsense_Mutation_p.R573*|MCF2_ENST00000370578.4_Nonsense_Mutation_p.R718*|MCF2_ENST00000338585.6_Nonsense_Mutation_p.R589*|MCF2_ENST00000536274.1_Nonsense_Mutation_p.R534*|MCF2_ENST00000520602.1_Nonsense_Mutation_p.R633*|MCF2_ENST00000483690.1_5'Flank|MCF2_ENST00000414978.1_Nonsense_Mutation_p.R633*|MCF2_ENST00000519895.1_Nonsense_Mutation_p.R649*	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	573	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GGTCCCACTCTTTCTGGAGCA	0.308																																						uc004fau.2		NA																	0				lung(1)|pleura(1)	2						c.(1717-1719)AGA>TGA		MCF.2 cell line derived transforming sequence							27.0	26.0	27.0					X																	138686866		2200	4292	6492	SO:0001587	stop_gained	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138686866T>A		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.1717A>T	X.37:g.138686866T>A	ENSP00000359608:p.Arg573*					MCF2_uc004fav.2_Nonsense_Mutation_p.R589*|MCF2_uc011mwl.1_Nonsense_Mutation_p.R550*|MCF2_uc010nsh.1_Nonsense_Mutation_p.R573*|MCF2_uc011mwm.1_Nonsense_Mutation_p.R534*|MCF2_uc011mwn.1_Nonsense_Mutation_p.R718*|MCF2_uc004faw.2_Nonsense_Mutation_p.R633*|MCF2_uc011mwo.1_Nonsense_Mutation_p.R649*	p.R573*	NM_005369	NP_005360	P10911	MCF2_HUMAN			15	2011	-	Acute lymphoblastic leukemia(192;0.000127)		573			DH.		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Nonsense_Mutation	SNP	ENST00000370576.4	37	c.1717A>T	CCDS14667.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.9|24.9	4.578114|4.578114	0.86645|0.86645	.|.	.|.	ENSG00000101977|ENSG00000101977	ENST00000437564|ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000446225;ENST00000519895;ENST00000370573;ENST00000338585	.|.	.|.	.|.	5.56|5.56	0.618|0.618	0.17624|0.17624	.|.	.|0.316997	.|0.36854	.|N	.|0.002362	T|.	0.36468|.	0.0968|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.38351|.	-0.9665|.	3|.	.|0.07175	.|T	.|0.84	.|.	13.6727|13.6727	0.62436|0.62436	0.0:0.0:0.4522:0.5478|0.0:0.0:0.4522:0.5478	.|.	.|.	.|.	.|.	M|X	76|633;573;534;718;633;176;649;573;589	.|.	.|ENSP00000342204:R589X	K|R	-|-	2|1	0|2	MCF2|MCF2	138514532|138514532	0.198000|0.198000	0.23374|0.23374	0.979000|0.979000	0.43373|0.43373	0.019000|0.019000	0.09904|0.09904	0.086000|0.086000	0.14935|0.14935	0.001000|0.001000	0.14605|0.14605	-0.496000|-0.496000	0.04628|0.04628	AAG|AGA		0.308	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		8	14	0	0	0	0	8	14				
HCFC1	3054	broad.mit.edu	37	X	153227686	153227686	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:153227686T>C	ENST00000310441.7	-	5	1750	c.784A>G	c.(784-786)Acc>Gcc	p.T262A	HCFC1_ENST00000461098.1_5'UTR|HCFC1_ENST00000354233.3_Missense_Mutation_p.T262A|HCFC1_ENST00000369984.4_Missense_Mutation_p.T262A	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	262					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTTCCGATGGTGGTTGCCGAG	0.587																																						uc004fjp.2		NA																	0				ovary(2)	2						c.(784-786)ACC>GCC		host cell factor 1							52.0	52.0	52.0					X																	153227686		2063	4167	6230	SO:0001583	missense	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153227686T>C		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.784A>G	X.37:g.153227686T>C	ENSP00000309555:p.Thr262Ala						p.T262A	NM_005334	NP_005325	P51610	HCFC1_HUMAN			5	1312	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		262			Kelch 4.		Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.784A>G	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.178036	0.78564	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.37411	1.2;1.2;1.2	5.6	5.6	0.85130	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.37972	0.1023	N	0.17674	0.51	0.45076	D	0.99809	P	0.51933	0.949	P	0.57057	0.812	T	0.13045	-1.0524	10	0.25106	T	0.35	.	13.6954	0.62575	0.0:0.0:0.0:1.0	.	262	P51610	HCFC1_HUMAN	A	262	ENSP00000309555:T262A;ENSP00000359001:T262A;ENSP00000346174:T262A	ENSP00000309555:T262A	T	-	1	0	HCFC1	152880880	0.997000	0.39634	0.876000	0.34364	0.824000	0.46624	2.624000	0.46444	1.878000	0.54408	0.425000	0.28330	ACC		0.587	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		3	30	0	0	0	0	3	30				
FAM24B	196792	broad.mit.edu	37	10	124610029	124610030	+	Start_Codon_Ins	INS	-	-	A	rs146874803		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr10:124610029_124610030insA	ENST00000368898.3	-	0	292_293				FAM24B_ENST00000462859.1_Intron|CUZD1_ENST00000545804.1_Intron|CUZD1_ENST00000368904.1_5'UTR|FAM24B_ENST00000368896.1_Start_Codon_Ins	NM_152644.2	NP_689857.2	Q8N5W8	FA24B_HUMAN	family with sequence similarity 24, member B							extracellular region (GO:0005576)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141)		CGATGACAGGCATAATCACTGT	0.5																																						uc001lgt.2		NA																	0					0						c.(1-3)ATGfs		hypothetical protein LOC196792 precursor																																				SO:0001582	initiator_codon_variant	196792					extracellular region		g.chr10:124610029_124610030insA	BC031343	CCDS31303.1	10q26.13	2004-05-27			ENSG00000213185	ENSG00000213185			23475	protein-coding gene	gene with protein product						12477932	Standard	NM_152644		Approved	MGC45962, AC073585.2	uc021qai.1	Q8N5W8	OTTHUMG00000019194	ENST00000368898.3:c.3dupT	10.37:g.124610030_124610030dupA						CUZD1_uc001lgs.2_5'UTR|CUZD1_uc010qtz.1_Intron|LOC399815_uc001lgu.3_5'Flank	p.M1fs	NM_152644	NP_689857	Q8N5W8	FA24B_HUMAN		Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141)	3	336_337	-		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)	1					Q5JPG1	Frame_Shift_Ins	INS	ENST00000368898.3	37	c.2_3insT	CCDS31303.1																																																																																				0.500	FAM24B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050825.1	NM_152644		26	71	NA	NA	NA	NA	26	71	---	---	---	---
KMT2A	4297	broad.mit.edu	37	11	118368762	118368763	+	Frame_Shift_Ins	INS	-	-	T	rs140545520		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:118368762_118368763insT	ENST00000389506.5	+	21	5767_5768	c.5767_5768insT	c.(5767-5769)atgfs	p.M1923fs	KMT2A_ENST00000534358.1_Frame_Shift_Ins_p.M1926fs|KMT2A_ENST00000354520.4_Frame_Shift_Ins_p.M1885fs			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1923					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GAATGTGCATATGGCTGTGATC	0.406																																						uc001pta.2		NA								T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		0				lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(5767-5769)ATGfs		myeloid/lymphoid or mixed-lineage leukemia																																				SO:0001589	frameshift_variant	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118368762_118368763insT	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.5768dupT	11.37:g.118368763_118368763dupT	ENSP00000374157:p.Met1923fs					MLL_uc001ptb.2_Frame_Shift_Ins_p.M1926fs	p.M1923fs	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	21	5790_5791	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	1923					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Frame_Shift_Ins	INS	ENST00000389506.5	37	c.5767_5768insT	CCDS31686.1																																																																																				0.406	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		22	82	NA	NA	NA	NA	22	82	---	---	---	---
MDGA2	161357	broad.mit.edu	37	14	47566080	47566080	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr14:47566080delT	ENST00000399232.2	-	6	1329	c.965delA	c.(964-966)aagfs	p.K322fs	MDGA2_ENST00000426342.1_Frame_Shift_Del_p.K93fs|MDGA2_ENST00000439988.3_Frame_Shift_Del_p.K391fs|MDGA2_ENST00000357362.3_Frame_Shift_Del_p.K93fs	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	322	Ig-like 3.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GTTGGTGGACTTTTTTGCAGG	0.393																																						uc001wwj.3		NA																	0				ovary(4)|large_intestine(1)|pancreas(1)	6						c.(964-966)AAGfs		MAM domain containing 1 isoform 1							136.0	128.0	130.0					14																	47566080		1880	4124	6004	SO:0001589	frameshift_variant	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47566080delT	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.965delA	14.37:g.47566080delT	ENSP00000382178:p.Lys322fs					MDGA2_uc001wwi.3_Frame_Shift_Del_p.K93fs|MDGA2_uc010ani.2_5'UTR	p.K322fs	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN			6	1161	-			322			Ig-like 3.		F6W3S7|J3KPX6	Frame_Shift_Del	DEL	ENST00000399232.2	37	c.965delA																																																																																					0.393	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		25	104	NA	NA	NA	NA	25	104	---	---	---	---
ABR	29	broad.mit.edu	37	17	914076	914077	+	In_Frame_Ins	INS	-	-	TCA			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr17:914076_914077insTCA	ENST00000302538.5	-	20	2274_2275	c.2128_2129insTGA	c.(2128-2130)agt>aTGAgt	p.709_710insM	ABR_ENST00000543210.2_In_Frame_Ins_p.160_161insM|ABR_ENST00000544583.2_In_Frame_Ins_p.663_664insM|ABR_ENST00000291107.2_In_Frame_Ins_p.672_673insM|ABR_ENST00000572441.1_Intron|ABR_ENST00000574437.1_In_Frame_Ins_p.663_664insM|ABR_ENST00000536794.2_In_Frame_Ins_p.491_492insM	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	709	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S710delS(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GTCCATGTCACTCAGCATCAGC	0.634																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	uc002fsd.2		NA																	1	Deletion - In frame(1)	p.S710delS(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)	1						c.(2128-2130)AGT>ATGAGT		active breakpoint cluster region-related																																				SO:0001652	inframe_insertion	29				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr17:914076_914077insTCA	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.2126_2128dupTGA	17.37:g.914077_914079dupTCA	ENSP00000303909:p.Leu709_Ser710insMet					ABR_uc002fse.2_In_Frame_Ins_p.663_664insM|ABR_uc010vqf.1_In_Frame_Ins_p.160_161insM|ABR_uc010vqg.1_In_Frame_Ins_p.491_492insM|ABR_uc002fsg.2_In_Frame_Ins_p.672_673insM|ABR_uc002fsh.1_In_Frame_Ins_p.317_318insM|ABR_uc002fsf.2_In_Frame_Ins_p.246_247insM	p.709_710insM	NM_021962	NP_068781	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	20	2238_2239	-			709_710			Rho-GAP.		B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	In_Frame_Ins	INS	ENST00000302538.5	37	c.2128_2129insTGA	CCDS10999.1																																																																																				0.634	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			69	93	NA	NA	NA	NA	69	93	---	---	---	---
USP34	9736	broad.mit.edu	37	2	61515972	61515973	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr2:61515972_61515973insA	ENST00000398571.2	-	34	4664_4665	c.4588_4589insT	c.(4588-4590)tgcfs	p.C1530fs		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1530					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGCAAACTGGCATATTAACTTC	0.411																																						uc002sbe.2		NA																	0				ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(4588-4590)TGCfs		ubiquitin specific protease 34																																				SO:0001589	frameshift_variant	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61515972_61515973insA	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.4589dupT	2.37:g.61515973_61515973dupA	ENSP00000381577:p.Cys1530fs						p.C1530fs	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		34	4610_4611	-			1530					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Frame_Shift_Ins	INS	ENST00000398571.2	37	c.4588_4589insT	CCDS42686.1																																																																																				0.411	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			20	40	NA	NA	NA	NA	20	40	---	---	---	---
SLC25A12	8604	broad.mit.edu	37	2	172644450	172644451	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr2:172644450_172644451insG	ENST00000422440.2	-	16	1629_1630	c.1592_1593insC	c.(1591-1593)ccafs	p.P531fs	SLC25A12_ENST00000392592.4_Frame_Shift_Ins_p.P424fs	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	531					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	GAGATGCAGCTGGGACACCTTT	0.465																																						uc002uhh.2		NA																	0					0						c.(1591-1593)CCAfs		solute carrier family 25, member 12	L-Aspartic Acid(DB00128)																																			SO:0001589	frameshift_variant	8604				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding	g.chr2:172644450_172644451insG	Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"""Solute carriers"", ""EF-hand domain containing"""	10982	protein-coding gene	gene with protein product		603667	"""solute carrier family 25 (mitochondrial carrier, Aralar), member 12"""			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.1593dupC	2.37:g.172644453_172644453dupG	ENSP00000388658:p.Pro531fs					SLC25A12_uc010fqh.2_Frame_Shift_Ins_p.P424fs	p.P531fs	NM_003705	NP_003696	O75746	CMC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		16	1681_1682	-			531			Helical; Name=5; (Potential).|Solcar 3.		B3KR64|Q96AM8	Frame_Shift_Ins	INS	ENST00000422440.2	37	c.1592_1593insC	CCDS33327.1																																																																																				0.465	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259010.2	NM_003705		16	39	NA	NA	NA	NA	16	39	---	---	---	---
CXCL9	4283	broad.mit.edu	37	4	76928561	76928572	+	In_Frame_Del	DEL	CAAGATGATGCC	CAAGATGATGCC	-			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr4:76928561_76928572delCAAGATGATGCC	ENST00000264888.5	-	1	69_80	c.31_42delGGCATCATCTTG	c.(31-42)ggcatcatcttgdel	p.GIIL11del	RP11-630D6.5_ENST00000501239.2_RNA	NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	chemokine (C-X-C motif) ligand 9	11					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|defense response (GO:0006952)|defense response to virus (GO:0051607)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|regulation of cell proliferation (GO:0042127)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|cytokine activity (GO:0005125)			large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCAGAACCAGCAAGATGATGCCCAAGAGGAAA	0.396																																						uc003hjh.1		NA																	0				ovary(1)	1						c.(31-42)GGCATCATCTTGdel		small inducible cytokine B9 precursor																																				SO:0001651	inframe_deletion	4283				cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space	chemokine activity	g.chr4:76928561_76928572delCAAGATGATGCC	X72755	CCDS34014.1	4q21	2013-02-25	2002-08-22	2002-08-23		ENSG00000138755		"""Endogenous ligands"""	7098	protein-coding gene	gene with protein product		601704	"""monokine induced by gamma interferon"""	CMK, MIG		8476424, 9730616	Standard	NM_002416		Approved	SCYB9, Humig, crg-10	uc003hjh.1	Q07325		ENST00000264888.5:c.31_42delGGCATCATCTTG	4.37:g.76928561_76928572delCAAGATGATGCC	ENSP00000354901:p.Gly11_Leu14del						p.GIIL11del	NM_002416	NP_002407	Q07325	CXCL9_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		1	70_81	-			11_14					Q503B4	In_Frame_Del	DEL	ENST00000264888.5	37	c.31_42delGGCATCATCTTG	CCDS34014.1																																																																																				0.396	CXCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362819.1			11	101	NA	NA	NA	NA	11	101	---	---	---	---
ARHGAP26	23092	broad.mit.edu	37	5	142513667	142513667	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr5:142513667delA	ENST00000274498.4	+	19	2212	c.1834delA	c.(1834-1836)aaafs	p.K612fs	ARHGAP26_ENST00000378004.3_Frame_Shift_Del_p.K612fs	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	612	Ser-rich.				actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTCAACAGAGAAACGTGAGTC	0.587																																						uc011dbj.1		NA																	0				ovary(1)	1						c.(1834-1836)AAAfs		GTPase regulator associated with the focal							116.0	95.0	102.0					5																	142513667		2203	4300	6503	SO:0001589	frameshift_variant	23092				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chr5:142513667delA	AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"""Rho GTPase activating proteins"""	17073	protein-coding gene	gene with protein product	"""GTPase regulator associated with the focal adhesion kinase pp125"""	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.1834delA	5.37:g.142513667delA	ENSP00000274498:p.Lys612fs					ARHGAP26_uc003lmt.2_Frame_Shift_Del_p.K612fs|ARHGAP26_uc003lmw.2_Frame_Shift_Del_p.K612fs	p.K612fs	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		19	1869	+		all_hematologic(541;0.0416)	612			Ser-rich.		O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Frame_Shift_Del	DEL	ENST00000274498.4	37	c.1834delA	CCDS4277.1																																																																																				0.587	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071		18	87	NA	NA	NA	NA	18	87	---	---	---	---
UFSP1	402682	broad.mit.edu	37	7	100486561	100486562	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr7:100486561_100486562delCC	ENST00000388761.2	-	1	777_778	c.331_332delGG	c.(331-333)ggcfs	p.G111fs		NM_001015072.3	NP_001015072.2	Q6NVU6	UFSP1_HUMAN	UFM1-specific peptidase 1 (non-functional)	111						extracellular vesicular exosome (GO:0070062)	thiolester hydrolase activity (GO:0016790)|UFM1 hydrolase activity (GO:0071567)			lung(1)|stomach(1)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTCTTGCCAGCCCACCCACCCA	0.584																																						uc003uxc.3		NA																	0					0						c.(331-333)GGCfs		inactive Ufm1-specific protease 1																																				SO:0001589	frameshift_variant	402682							g.chr7:100486561_100486562delCC	AF312032	CCDS34710.1	7q22.1	2008-03-25			ENSG00000176125	ENSG00000176125			33821	protein-coding gene	gene with protein product		611481				17182609, 18321862	Standard	NM_001015072		Approved	UFSP	uc003uxc.4	Q6NVU6	OTTHUMG00000159662	ENST00000388761.2:c.331_332delGG	7.37:g.100486561_100486562delCC	ENSP00000373413:p.Gly111fs					uc010lhm.1_5'Flank	p.G111fs	NM_001015072	NP_001015072	Q6NVU6	UFSP1_HUMAN			1	778_779	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		111					A4D2E4|A8K8V2|B6ZDG6|Q9BXP6	Frame_Shift_Del	DEL	ENST00000388761.2	37	c.331_332delGG	CCDS34710.1																																																																																				0.584	UFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356751.1	NM_001015072		24	100	NA	NA	NA	NA	24	100	---	---	---	---
KDM7A	80853	broad.mit.edu	37	7	139810963	139810964	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr7:139810963_139810964insA	ENST00000397560.2	-	11	1456_1457	c.1359_1360insT	c.(1357-1362)tttgaafs	p.E454fs	JHDM1D_ENST00000006967.5_Frame_Shift_Ins_p.E454fs	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		454					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TCTGGAATTTCAAAGGCATGTT	0.297																																						uc003vvm.2		NA																	0				ovary(1)	1						c.(1357-1362)TTTGAAfs		jumonji C domain containing histone demethylase																																				SO:0001589	frameshift_variant	80853				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr7:139810963_139810964insA																												ENST00000397560.2:c.1360dupT	7.37:g.139810966_139810966dupA	ENSP00000380692:p.Glu454fs					JHDM1D_uc010lng.2_RNA	p.F453fs	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN			11	1363_1364	-	Melanoma(164;0.0142)		453_454					A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Frame_Shift_Ins	INS	ENST00000397560.2	37	c.1359_1360insT	CCDS43658.1																																																																																				0.297	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			12	56	NA	NA	NA	NA	12	56	---	---	---	---
SLC9A6	10479	broad.mit.edu	37	X	135098865	135098865	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:135098865delT	ENST00000370698.3	+	10	1237	c.1202delT	c.(1201-1203)ctgfs	p.L401fs	SLC9A6_ENST00000370701.1_Frame_Shift_Del_p.L381fs|SLC9A6_ENST00000370695.4_Frame_Shift_Del_p.L433fs	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	401					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)	p.L401Q(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					GGGCTGACACTGTTCACCTTC	0.333																																						uc004ezj.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)	1						c.(1201-1203)CTGfs		solute carrier family 9 (sodium/hydrogen							130.0	111.0	117.0					X																	135098865		2203	4300	6503	SO:0001589	frameshift_variant	10479				regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	g.chrX:135098865delT	AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"""Solute carriers"""	11079	protein-coding gene	gene with protein product		300231	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 6"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 6"""			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.1202delT	X.37:g.135098865delT	ENSP00000359732:p.Leu401fs					SLC9A6_uc004ezk.2_Frame_Shift_Del_p.L433fs	p.L401fs	NM_006359	NP_006350	Q92581	SL9A6_HUMAN			10	1278	+	Acute lymphoblastic leukemia(192;0.000127)		401			Helical; (Potential).		A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Frame_Shift_Del	DEL	ENST00000370698.3	37	c.1202delT	CCDS14654.1																																																																																				0.333	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	NM_006359		25	65	NA	NA	NA	NA	25	65	---	---	---	---
