#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
MIB2	142678	broad.mit.edu	37	1	1563750	1563750	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:1563750C>T	ENST00000357210.4	+	15	2329	c.2113C>T	c.(2113-2115)Cgc>Tgc	p.R705C	MIB2_ENST00000504599.1_Missense_Mutation_p.R661C|MIB2_ENST00000355826.5_Missense_Mutation_p.R748C|MIB2_ENST00000360522.4_Missense_Mutation_p.R670C|MIB2_ENST00000378708.1_Missense_Mutation_p.R611C|MIB2_ENST00000518681.1_Missense_Mutation_p.R697C|MIB2_ENST00000378712.1_Missense_Mutation_p.R582C|MIB2_ENST00000378710.3_Missense_Mutation_p.R669C|MIB2_ENST00000520777.1_Missense_Mutation_p.R758C|MIB2_ENST00000505820.2_Missense_Mutation_p.R762C	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	705					Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CAACAACCACCGCGAGGTGGC	0.692																																						uc001agg.3																			0				central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18						c.(2284-2286)Cgc>Tgc		Homo sapiens mindbomb homolog 2 (Drosophila) (MIB2), transcript variant 1, mRNA.							19.0	24.0	23.0					1																	1563750		2046	4188	6234	SO:0001583	missense	142678				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:1563750C>T	AK097106	CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1	1p36.33	2013-01-10	2012-02-23	2005-04-01	ENSG00000197530	ENSG00000197530		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	30577	protein-coding gene	gene with protein product		611141	"""zinc finger, ZZ type with ankyrin repeat domain 1"", ""mindbomb homolog 2 (Drosophila)"""	ZZANK1		12761501	Standard	NM_080875		Approved	skeletrophin, ZZZ5, FLJ39787	uc001agg.3	Q96AX9	OTTHUMG00000074647	ENST00000357210.4:c.2113C>T	1.37:g.1563750C>T	ENSP00000349741:p.Arg705Cys					MIB2_uc001agh.3_Missense_Mutation_p.R748C|MIB2_uc001agi.3_Missense_Mutation_p.R758C|MIB2_uc001agj.3_Missense_Mutation_p.R546C|MIB2_uc001agk.3_Missense_Mutation_p.R697C|MIB2_uc001agl.2_Missense_Mutation_p.R661C|MIB2_uc001agm.3_Missense_Mutation_p.R582C|MIB2_uc010nyq.2_Missense_Mutation_p.R661C|MIB2_uc009vkh.3_Missense_Mutation_p.R511C|MIB2_uc001agn.3_Missense_Mutation_p.R337C|MIB2_uc001ago.3_5'Flank	p.R762C	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	14	2329	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	705					A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1	Missense_Mutation	SNP	ENST00000357210.4	37	c.2284C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.70|13.70	2.316613|2.316613	0.40996|0.40996	.|.	.|.	ENSG00000197530|ENSG00000197530	ENST00000514234|ENST00000520777;ENST00000357210;ENST00000360522;ENST00000378710;ENST00000355826;ENST00000518681;ENST00000505820;ENST00000378712;ENST00000504599;ENST00000378708	.|T;T;T;T;T;T;T;T;T;T	.|0.63096	.|-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	4.15|4.15	1.17|1.17	0.20885|0.20885	.|Ankyrin repeat-containing domain (3);	.|0.220397	.|0.40302	.|N	.|0.001137	T|T	0.55705|0.55705	0.1937|0.1937	L|L	0.28740|0.28740	0.885|0.885	0.42876|0.42876	D|D	0.994153|0.994153	.|D;D;D;D;D;D;D	.|0.69078	.|0.997;0.977;0.984;0.997;0.997;0.992;0.995	.|P;P;P;P;P;P;P	.|0.60345	.|0.761;0.713;0.72;0.849;0.873;0.707;0.846	T|T	0.53151|0.53151	-0.8479|-0.8479	5|10	.|0.36615	.|T	.|0.2	-17.0243|-17.0243	2.3558|2.3558	0.04295|0.04295	0.1622:0.517:0.1398:0.181|0.1622:0.517:0.1398:0.181	.|.	.|670;611;582;697;758;691;705	.|Q96AX9-5;F2Z2L2;B3KXY1;E9PHQ1;E9PGU1;Q96AX9-2;Q96AX9	.|.;.;.;.;.;.;MIB2_HUMAN	L|C	520|758;705;670;669;748;697;762;582;661;611	.|ENSP00000428660:R758C;ENSP00000349741:R705C;ENSP00000353713:R670C;ENSP00000367982:R669C;ENSP00000348081:R748C;ENSP00000428264:R697C;ENSP00000426103:R762C;ENSP00000367984:R582C;ENSP00000426128:R661C;ENSP00000367980:R611C	.|ENSP00000348081:R748C	P|R	+|+	2|1	0|0	MIB2|MIB2	1553613|1553613	0.000000|0.000000	0.05858|0.05858	0.490000|0.490000	0.27465|0.27465	0.283000|0.283000	0.27025|0.27025	-0.334000|-0.334000	0.07883|0.07883	0.062000|0.062000	0.16340|0.16340	-0.339000|-0.339000	0.08088|0.08088	CCG|CGC		0.692	MIB2-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_080875	
PLEKHG5	57449	broad.mit.edu	37	1	6537601	6537601	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:6537601G>C	ENST00000400915.3	-	3	265	c.199C>G	c.(199-201)Ctt>Gtt	p.L67V	PLEKHG5_ENST00000377728.3_Missense_Mutation_p.L11V|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.L11V|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.L80V|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.L11V|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.L90V|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.L11V|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.L11V|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.L88V|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.L48V|PLEKHG5_ENST00000377748.1_Missense_Mutation_p.L88V|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.L11V	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	67					apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		TGTGGGGGAAGGTCGAAGCGG	0.617																																						uc001anp.1																			0				liver(1)	1						c.(262-264)Ctt>Gtt		Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5 (PLEKHG5), transcript variant 2, mRNA.							85.0	84.0	84.0					1																	6537601		2203	4300	6503	SO:0001583	missense	57449				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:6537601G>C	AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"""Pleckstrin homology (PH) domain containing"""	29105	protein-coding gene	gene with protein product	"""synectin-binding guanine exchange factor"""	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.199C>G	1.37:g.6537601G>C	ENSP00000383706:p.Leu67Val					PLEKHG5_uc001ann.1_Missense_Mutation_p.L48V|PLEKHG5_uc001ano.1_Missense_Mutation_p.L67V|PLEKHG5_uc001anq.1_Missense_Mutation_p.L88V|PLEKHG5_uc009vma.1_5'UTR|PLEKHG5_uc010nzr.1_Missense_Mutation_p.L80V|PLEKHG5_uc001ank.1_Missense_Mutation_p.L11V|PLEKHG5_uc009vmb.1_Missense_Mutation_p.L11V|PLEKHG5_uc001anl.1_Missense_Mutation_p.L11V|PLEKHG5_uc001anm.1_Missense_Mutation_p.L11V	p.L88V	NM_198681	NP_065682	O94827	PKHG5_HUMAN		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)	2	760	-	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)	67					B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Missense_Mutation	SNP	ENST00000400915.3	37	c.262C>G	CCDS41241.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.821657	0.50633	.	.	ENSG00000171680	ENST00000377748;ENST00000340850;ENST00000400913;ENST00000400915;ENST00000377740;ENST00000377732;ENST00000377728;ENST00000377725;ENST00000535355;ENST00000377737;ENST00000537245;ENST00000544978	T;T;T;T;T;T;T;T;T;T;T;T	0.72394	0.34;-0.65;-0.65;0.34;0.34;0.34;-0.65;-0.64;0.34;-0.65;0.34;-0.64	4.52	3.6	0.41247	.	0.000000	0.64402	D	0.000008	T	0.68485	0.3006	L	0.47716	1.5	0.38587	D	0.950325	D;P;P;D;D	0.57571	0.98;0.955;0.809;0.98;0.966	P;P;B;P;P	0.51487	0.671;0.599;0.395;0.671;0.471	T	0.68934	-0.5278	10	0.41790	T	0.15	-18.0393	8.6192	0.33851	0.1836:0.0:0.8164:0.0	.	80;11;88;88;67	F5GZ21;O94827-4;Q5SY18;O94827-2;O94827	.;.;.;.;PKHG5_HUMAN	V	88;11;11;67;88;48;11;11;80;11;90;11	ENSP00000366977:L88V;ENSP00000344570:L11V;ENSP00000383704:L11V;ENSP00000383706:L67V;ENSP00000366969:L88V;ENSP00000366961:L48V;ENSP00000366957:L11V;ENSP00000366954:L11V;ENSP00000441445:L80V;ENSP00000366966:L11V;ENSP00000439625:L90V;ENSP00000437710:L11V	ENSP00000344570:L11V	L	-	1	0	PLEKHG5	6460188	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	1.802000	0.38853	1.002000	0.39104	0.407000	0.27541	CTT		0.617	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002631.1	NM_020631	
CD53	963	broad.mit.edu	37	1	111435024	111435024	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:111435024G>A	ENST00000271324.5	+	3	233	c.121G>A	c.(121-123)Gga>Aga	p.G41R	CD53_ENST00000429072.2_Missense_Mutation_p.G41R	NM_000560.3|NM_001040033.1	NP_000551.1|NP_001035122.1	P19397	CD53_HUMAN	CD53 molecule	41					positive regulation of myoblast fusion (GO:1901741)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		CAACAACTTCGGAGTGCTCTT	0.507																																						uc001dzw.3																			0		p.F40F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17						c.(121-123)Gga>Aga		Homo sapiens CD53 molecule (CD53), transcript variant 1, mRNA.							204.0	172.0	183.0					1																	111435024		2203	4300	6503	SO:0001583	missense	963				signal transduction	integral to membrane|plasma membrane		g.chr1:111435024G>A	BC040693	CCDS829.1	1p13	2013-02-14	2006-03-28		ENSG00000143119	ENSG00000143119		"""CD molecules"", ""Tetraspanins"""	1686	protein-coding gene	gene with protein product		151525	"""CD53 antigen"""	MOX44		8319976	Standard	XM_006711053		Approved	TSPAN25	uc001dzw.3	P19397	OTTHUMG00000048020	ENST00000271324.5:c.121G>A	1.37:g.111435024G>A	ENSP00000271324:p.Gly41Arg					CD53_uc001dzx.3_Missense_Mutation_p.G41R|CD53_uc010owa.2_Missense_Mutation_p.G41R	p.G41R	NM_001040033	NP_001035122	P19397	CD53_HUMAN		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)	3	292	+		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	41					B2R905|Q5U0D6	Missense_Mutation	SNP	ENST00000271324.5	37	c.121G>A	CCDS829.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.008503	0.54361	.	.	ENSG00000143119	ENST00000429072;ENST00000271324	T;T	0.79845	-1.31;-1.31	5.92	3.04	0.35103	.	0.469539	0.23795	N	0.044488	T	0.49218	0.1544	N	0.24115	0.695	0.41823	D	0.990038	B;B	0.26258	0.145;0.012	B;B	0.26614	0.071;0.011	T	0.44329	-0.9335	10	0.41790	T	0.15	.	6.3342	0.21287	0.0725:0.1327:0.657:0.1378	.	41;41	B4DQB5;P19397	.;CD53_HUMAN	R	41	ENSP00000412250:G41R;ENSP00000271324:G41R	ENSP00000271324:G41R	G	+	1	0	CD53	111236547	1.000000	0.71417	0.361000	0.25849	0.967000	0.64934	5.250000	0.65432	0.409000	0.25649	0.650000	0.86243	GGA		0.507	CD53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032931.1	NM_000560	
HSD3BP2	440606	broad.mit.edu	37	1	119985580	119985580	+	IGR	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:119985580C>T								HSD3B2 (19922 upstream) : HSD3B1 (64245 downstream)																							CCTGCCAGGACGTGTCGGTCG	0.507																																						uc001ehu.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27						c.(385-387)gaC>gaT		Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 1, mRNA.	NADH(DB00157)|Trilostane(DB01108)																																			SO:0001628	intergenic_variant	3284				androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:119985580C>T																													1.37:g.119985580C>T							p.D129D			P26439	3BHS2_HUMAN		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	3	559	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	0		G -> R (in AH2; nonsalt-wasting form).				Silent	SNP		37	c.387C>T																																																																																				0	0.507								
HRNR	388697	broad.mit.edu	37	1	152188024	152188024	+	Silent	SNP	C	C	G	rs142170860		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:152188024C>G	ENST00000368801.2	-	3	6156	c.6081G>C	c.(6079-6081)tcG>tcC	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																																						uc001ezt.1																			2	Substitution - coding silent(2)	p.S2027S(4)	lung(1)|kidney(1)	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						c.(6079-6081)tcG>tcC		Homo sapiens hornerin (HRNR), mRNA.							348.0	495.0	444.0					1																	152188024		2158	4162	6320	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152188024C>G	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>C	1.37:g.152188024C>G							p.S2027S	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	6157	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2027					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.6081G>C	CCDS30859.1																																																																																				0.562	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868	
NUP210L	91181	broad.mit.edu	37	1	154090286	154090286	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:154090286C>T	ENST00000368559.3	-	12	1606	c.1535G>A	c.(1534-1536)gGa>gAa	p.G512E	NUP210L_ENST00000271854.3_Missense_Mutation_p.G512E	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	512					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AGTCACCACTCCTTTCGTGGT	0.433																																						uc001fdw.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(1534-1536)gGa>gAa		Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.							124.0	118.0	120.0					1																	154090286		1918	4125	6043	SO:0001583	missense	91181					integral to membrane		g.chr1:154090286C>T	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.1535G>A	1.37:g.154090286C>T	ENSP00000357547:p.Gly512Glu					NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Missense_Mutation_p.G512E	p.G512E	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		11	1607	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		512					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.1535G>A	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723675	0.68959	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.78364	-1.17;-1.17	4.55	4.55	0.56014	Invasin/intimin cell-adhesion (1);	0.000000	0.56097	D	0.000036	D	0.83876	0.5349	M	0.67397	2.05	0.53688	D	0.99997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86361	0.1717	10	0.87932	D	0	-17.1412	15.0853	0.72148	0.0:1.0:0.0:0.0	.	512;512	E7EP56;Q5VU65	.;P210L_HUMAN	E	512	ENSP00000357547:G512E;ENSP00000271854:G512E	ENSP00000271854:G512E	G	-	2	0	NUP210L	152356910	1.000000	0.71417	0.994000	0.49952	0.583000	0.36354	5.423000	0.66458	2.094000	0.63399	0.557000	0.71058	GGA		0.433	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308	
TIPRL	261726	broad.mit.edu	37	1	168165850	168165850	+	Silent	SNP	C	C	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:168165850C>A	ENST00000367833.2	+	5	727	c.582C>A	c.(580-582)atC>atA	p.I194I		NM_152902.3	NP_690866.1	O75663	TIPRL_HUMAN	TOR signaling pathway regulator	194	Interaction with PPP2CA.				DNA damage checkpoint (GO:0000077)|negative regulation of protein phosphatase type 2A activity (GO:0034048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6	all_hematologic(923;0.215)					GGGTGCTTATCAGAATGAATG	0.323																																						uc001gfg.3																			0				breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6						c.(580-582)atC>atA		Homo sapiens TIP41, TOR signaling pathway regulator-like (S. cerevisiae) (TIPRL), transcript variant 1, mRNA.							122.0	125.0	124.0					1																	168165850		2203	4300	6503	SO:0001819	synonymous_variant	261726				DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding	g.chr1:168165850C>A	AB097034	CCDS1270.1, CCDS30935.1	1q23.2	2014-03-07	2014-03-07		ENSG00000143155	ENSG00000143155			30231	protein-coding gene	gene with protein product		611807	"""TIP41, TOR signaling pathway regulator-like (S. cerevisiae)"""			12761501	Standard	NM_001031800		Approved	MGC3794, dJ69E11.3, TIP41	uc001gfg.3	O75663	OTTHUMG00000034646	ENST00000367833.2:c.582C>A	1.37:g.168165850C>A							p.I194I	NM_152902	NP_690866	O75663	TIPRL_HUMAN			4	727	+	all_hematologic(923;0.215)		194			Interaction with PPP2CA.		B2R8V3|Q5HYB2|Q8IZ86	Silent	SNP	ENST00000367833.2	37	c.582C>A	CCDS1270.1																																																																																				0.323	TIPRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083822.1	NM_152902	
USH2A	7399	broad.mit.edu	37	1	215933077	215933077	+	Missense_Mutation	SNP	C	C	T	rs527236139		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:215933077C>T	ENST00000307340.3	-	57	11542	c.11156G>A	c.(11155-11157)cGt>cAt	p.R3719H	USH2A_ENST00000366943.2_Missense_Mutation_p.R3719H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3719	Fibronectin type-III 22. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTTTCCATTACGACTCAATTG	0.408										HNSCC(13;0.011)																												uc001hku.1																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(11155-11157)cGt>cAt		Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.							122.0	115.0	118.0					1																	215933077		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215933077C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.11156G>A	1.37:g.215933077C>T	ENSP00000305941:p.Arg3719His	HNSCC(13;0.011)					p.R3719H	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	56	11543	-			3719			Fibronectin type-III 22.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.11156G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258397	0.80246	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.55052	0.54;0.54	5.5	4.57	0.56435	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.44483	D	0.000454	T	0.68879	0.3049	M	0.75447	2.3	0.50467	D	0.999877	D	0.89917	1.0	D	0.64410	0.925	T	0.70436	-0.4872	10	0.42905	T	0.14	.	13.475	0.61303	0.2845:0.7155:0.0:0.0	.	3719	O75445	USH2A_HUMAN	H	3719	ENSP00000305941:R3719H;ENSP00000355910:R3719H	ENSP00000305941:R3719H	R	-	2	0	USH2A	213999700	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	3.436000	0.52856	1.405000	0.46838	0.563000	0.77884	CGT		0.408	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
EPHX1	2052	broad.mit.edu	37	1	226027611	226027611	+	Silent	SNP	C	C	T	rs369274884		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:226027611C>T	ENST00000366837.4	+	6	1000	c.804C>T	c.(802-804)ttC>ttT	p.F268F	EPHX1_ENST00000272167.5_Silent_p.F268F|RP11-285F7.2_ENST00000424332.1_RNA	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	268					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GACAGCGTTTCGGGAGGTTTC	0.552																																						uc001hpk.3																			0		p.R267C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(802-804)ttC>ttT		Homo sapiens epoxide hydrolase 1, microsomal (xenobiotic) (EPHX1), transcript variant 2, mRNA.		C	,	0,4406		0,0,2203	194.0	177.0	183.0		804,804	-9.1	0.0	1		183	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	EPHX1	NM_000120.3,NM_001136018.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	268/456,268/456	226027611	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2052				aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	g.chr1:226027611C>T	J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.804C>T	1.37:g.226027611C>T						EPHX1_uc001hpl.3_Silent_p.F268F	p.F268F	NM_001136018	NP_001129490	P07099	HYEP_HUMAN			5	884	+	Breast(184;0.197)		268					B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Silent	SNP	ENST00000366837.4	37	c.804C>T	CCDS1547.1																																																																																				0.552	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120	
RYR2	6262	broad.mit.edu	37	1	237838075	237838075	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:237838075G>A	ENST00000366574.2	+	60	9076	c.8759G>A	c.(8758-8760)cGa>cAa	p.R2920Q	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.R2918Q|RYR2_ENST00000542537.1_Missense_Mutation_p.R2904Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2920	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATTGAGAAACGATTTGCCTAT	0.423																																						uc001hyl.1																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(8758-8760)cGa>cAa		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							117.0	108.0	111.0					1																	237838075		1862	4101	5963	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237838075G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.8759G>A	1.37:g.237838075G>A	ENSP00000355533:p.Arg2920Gln					RYR2_uc010pxz.1_5'UTR	p.R2920Q	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		59	8879	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2920			4 X approximate repeats.|Modulator (Potential).		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.8759G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	33	5.252877	0.95336	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;D;T	0.98280	-0.05;-4.84;-0.05	4.88	4.88	0.63580	.	0.109676	0.36815	U	0.002400	D	0.98960	0.9646	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.68943	0.961	D	0.99814	1.1043	10	0.87932	D	0	.	18.3939	0.90492	0.0:0.0:1.0:0.0	.	2920	Q92736	RYR2_HUMAN	Q	2920;2918;2904	ENSP00000355533:R2920Q;ENSP00000353174:R2918Q;ENSP00000443798:R2904Q	ENSP00000353174:R2918Q	R	+	2	0	RYR2	235904698	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	9.323000	0.96364	2.406000	0.81754	0.557000	0.71058	CGA		0.423	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
MKX	283078	broad.mit.edu	37	10	27964299	27964299	+	Silent	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr10:27964299C>T	ENST00000375790.5	-	7	1350	c.918G>A	c.(916-918)aaG>aaA	p.K306K	MKX_ENST00000419761.1_Silent_p.K306K			Q8IYA7	MKX_HUMAN	mohawk homeobox	306					collagen fibril organization (GO:0030199)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|positive regulation of collagen biosynthetic process (GO:0032967)|tendon cell differentiation (GO:0035990)|tendon sheath development (GO:0002932)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						CGTTGATCTCCTTCCAATACG	0.458																																						uc001ity.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						c.(916-918)aaG>aaA		Homo sapiens mohawk homeobox (MKX), transcript variant 1, mRNA.							268.0	235.0	246.0					10																	27964299		2203	4300	6503	SO:0001819	synonymous_variant	283078				muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:27964299C>T	BC036207	CCDS7156.1	10p12.1	2011-06-20	2006-03-31	2006-03-31	ENSG00000150051	ENSG00000150051		"""Homeoboxes / TALE class"""	23729	protein-coding gene	gene with protein product		601332	"""chromosome 10 open reading frame 48"", ""iroquois homeobox protein-like 1"""	C10orf48, IRXL1		16408284	Standard	NM_173576		Approved	MGC39616	uc001itx.4	Q8IYA7	OTTHUMG00000017862	ENST00000375790.5:c.918G>A	10.37:g.27964299C>T						MKX_uc001itx.4_Silent_p.K306K	p.K306K	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN			6	1143	-			306					B3KWM5	Silent	SNP	ENST00000375790.5	37	c.918G>A	CCDS7156.1																																																																																				0.458	MKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047332.3	NM_173576	
C10orf12	26148	broad.mit.edu	37	10	98741746	98741746	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr10:98741746G>A	ENST00000286067.2	+	1	706	c.599G>A	c.(598-600)tGt>tAt	p.C200Y		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	200										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AATGGTGACTGTTGTGAGCTG	0.423																																						uc001kmv.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45						c.(598-600)tGt>tAt		Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.							92.0	91.0	91.0					10																	98741746		2203	4300	6503	SO:0001583	missense	26148							g.chr10:98741746G>A	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.599G>A	10.37:g.98741746G>A	ENSP00000286067:p.Cys200Tyr					C10orf12_uc009xvg.2_Missense_Mutation_p.C510Y	p.C200Y	NM_015652	NP_056467	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	0	706	+		Colorectal(252;0.172)	200					Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	c.599G>A	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012574	0.54468	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.09723	2.95	5.95	5.95	0.96441	.	0.000000	0.56097	D	0.000039	T	0.18045	0.0433	N	0.24115	0.695	0.37020	D	0.896151	D;D	0.60575	0.976;0.988	P;P	0.61800	0.894;0.81	T	0.02138	-1.1207	10	0.87932	D	0	-6.3714	13.5545	0.61751	0.0708:0.0:0.9292:0.0	.	34;200	A0PJI9;Q8N655	.;CJ012_HUMAN	Y	200;34	ENSP00000286067:C200Y	ENSP00000286067:C200Y	C	+	2	0	C10orf12	98731736	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.937000	0.48979	2.822000	0.97130	0.655000	0.94253	TGT		0.423	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652	
MMP10	4319	broad.mit.edu	37	11	102647144	102647144	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr11:102647144C>T	ENST00000279441.4	-	6	835	c.799G>A	c.(799-801)Gcc>Acc	p.A267T		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	267					collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	Marimastat(DB00786)	TCAGTAGAGGCAGGGGGAGGT	0.468																																						uc001phg.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22						c.(799-801)Gcc>Acc		Homo sapiens matrix metallopeptidase 10 (stromelysin 2) (MMP10), mRNA.							67.0	65.0	66.0					11																	102647144		2203	4299	6502	SO:0001583	missense	4319				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102647144C>T	X07820	CCDS8321.1	11q22.3	2008-02-05	2005-08-08		ENSG00000166670	ENSG00000166670	3.4.24.22		7156	protein-coding gene	gene with protein product		185260	"""matrix metalloproteinase 10 (stromelysin 2)"""	STMY2			Standard	NM_002425		Approved		uc001phg.2	P09238	OTTHUMG00000168083	ENST00000279441.4:c.799G>A	11.37:g.102647144C>T	ENSP00000279441:p.Ala267Thr						p.A267T	NM_002425	NP_002416	P09238	MMP10_HUMAN	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	5	836	-	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	267					B2R9X9|Q53HH9	Missense_Mutation	SNP	ENST00000279441.4	37	c.799G>A	CCDS8321.1	.	.	.	.	.	.	.	.	.	.	C	8.712	0.912352	0.17907	.	.	ENSG00000166670	ENST00000279441	T	0.12672	2.66	4.27	-2.62	0.06152	Metallopeptidase, catalytic domain (1);	1.248850	0.05927	N	0.634423	T	0.05686	0.0149	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40813	-0.9543	10	0.16896	T	0.51	.	4.4459	0.11597	0.3405:0.1876:0.0:0.4719	.	267	P09238	MMP10_HUMAN	T	267	ENSP00000279441:A267T	ENSP00000279441:A267T	A	-	1	0	MMP10	102152354	0.000000	0.05858	0.000000	0.03702	0.374000	0.29953	-0.878000	0.04192	-0.638000	0.05509	0.650000	0.86243	GCC		0.468	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398014.1		
DDX25	29118	broad.mit.edu	37	11	125787056	125787056	+	Silent	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr11:125787056C>T	ENST00000263576.6	+	9	1103	c.948C>T	c.(946-948)taC>taT	p.Y316Y	RP11-680F20.9_ENST00000533033.2_RNA|DDX25_ENST00000525943.1_3'UTR	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	316	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		GGCAATATTACGTGCTGTGTG	0.478																																						uc001qcz.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(946-948)taC>taT		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 25 (DDX25), mRNA.							64.0	63.0	63.0					11																	125787056		2129	4252	6381	SO:0001819	synonymous_variant	29118				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr11:125787056C>T	AF155140	CCDS44766.1	11q24	2012-02-23	2012-02-23		ENSG00000109832	ENSG00000109832		"""DEAD-boxes"""	18698	protein-coding gene	gene with protein product	"""gonadotropin-regulated testicular RNA helicase"""	607663	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 25"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 25"""			10608860, 15096601	Standard	NM_013264		Approved	GRTH	uc001qcz.5	Q9UHL0	OTTHUMG00000165859	ENST00000263576.6:c.948C>T	11.37:g.125787056C>T						DDX25_uc010sbk.2_Silent_p.Y316Y	p.Y316Y	NM_013264	NP_037396	Q9UHL0	DDX25_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)	8	1089	+	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	316			Helicase C-terminal.		B2R6Z0|Q5XVN2|Q86W81|Q8IYP1	Silent	SNP	ENST00000263576.6	37	c.948C>T	CCDS44766.1																																																																																				0.478	DDX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386736.3	NM_013264	
ITPR2	3709	broad.mit.edu	37	12	26864181	26864181	+	Silent	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr12:26864181G>A	ENST00000381340.3	-	9	1292	c.876C>T	c.(874-876)tgC>tgT	p.C292C		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	292					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CACCCCCACGGCATGGGTCAT	0.433																																						uc001rhg.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(874-876)tgC>tgT		Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.							93.0	90.0	91.0					12																	26864181		2008	4178	6186	SO:0001819	synonymous_variant	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26864181G>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.876C>T	12.37:g.26864181G>A							p.C292C	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			8	1293	-	Colorectal(261;0.0847)		292					O94773	Silent	SNP	ENST00000381340.3	37	c.876C>T	CCDS41764.1																																																																																				0.433	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223	
PRPF40B	25766	broad.mit.edu	37	12	50028946	50028946	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr12:50028946G>C	ENST00000380281.1	+	12	1064	c.1000G>C	c.(1000-1002)Gag>Cag	p.E334Q	FMNL3_ENST00000550668.1_5'Flank|PRPF40B_ENST00000261897.1_Missense_Mutation_p.E328Q|PRPF40B_ENST00000548825.2_Missense_Mutation_p.E356Q			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	334					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GCGGGAGAAGGAGGAGAAGGA	0.582																																						uc001rur.1																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(1000-1002)Gag>Cag		Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.							49.0	49.0	49.0					12																	50028946		2203	4300	6503	SO:0001583	missense	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50028946G>C	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.1000G>C	12.37:g.50028946G>C	ENSP00000369634:p.Glu334Gln					PRPF40B_uc001rup.1_Missense_Mutation_p.E356Q|PRPF40B_uc001ruq.1_Missense_Mutation_p.E328Q|PRPF40B_uc001rus.1_Missense_Mutation_p.E277Q	p.E334Q	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN			11	1063	+			334					O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37	c.1000G>C		.	.	.	.	.	.	.	.	.	.	G	29.6	5.018560	0.93404	.	.	ENSG00000110844	ENST00000261897;ENST00000380281	T;T	0.26810	1.72;1.71	5.13	5.13	0.70059	.	0.000000	0.64402	D	0.000007	T	0.48040	0.1478	L	0.56769	1.78	0.80722	D	1	D;D;D	0.89917	0.987;0.982;1.0	D;P;D	0.80764	0.911;0.886;0.994	T	0.22068	-1.0227	9	.	.	.	-23.3935	17.8835	0.88848	0.0:0.0:1.0:0.0	.	334;328;334	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	Q	328;334	ENSP00000261897:E328Q;ENSP00000369634:E334Q	.	E	+	1	0	PRPF40B	48315213	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.061000	0.93913	2.843000	0.97960	0.655000	0.94253	GAG		0.582	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272	
CAPS2	84698	broad.mit.edu	37	12	75692734	75692734	+	Missense_Mutation	SNP	A	A	C			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr12:75692734A>C	ENST00000409445.3	-	11	1120	c.924T>G	c.(922-924)gaT>gaG	p.D308E	CAPS2_ENST00000409004.1_Intron|CAPS2_ENST00000393284.3_Missense_Mutation_p.D76E|RP11-560G2.1_ENST00000534648.2_RNA|CAPS2_ENST00000442339.2_Intron|CAPS2_ENST00000409799.1_Intron	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	308							calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						CTCTGCAAGCATCACGTCCAT	0.308																																						uc001sxl.3																			0				endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						c.(865-867)gaT>gaG		Homo sapiens calcyphosine 2 (CAPS2), mRNA.							73.0	72.0	73.0					12																	75692734		2203	4300	6503	SO:0001583	missense	84698						calcium ion binding	g.chr12:75692734A>C	AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"""EF-hand domain containing"""	16471	protein-coding gene	gene with protein product		607724	"""calcyphosphine 2"""			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.924T>G	12.37:g.75692734A>C	ENSP00000386959:p.Asp308Glu					CAPS2_uc001sxm.3_Missense_Mutation_p.D76E|CAPS2_uc009zsa.2_Intron|CAPS2_uc001sxi.4_Intron|CAPS2_uc001sxj.4_Intron|CAPS2_uc001sxk.4_Missense_Mutation_p.D308E	p.D289E	NM_032606	NP_115995	Q9BXY5	CAYP2_HUMAN			9	896	-			308					Q6PH84|Q8N242|Q8NAY5	Missense_Mutation	SNP	ENST00000409445.3	37	c.867T>G	CCDS9008.2	.	.	.	.	.	.	.	.	.	.	A	19.72	3.880198	0.72294	.	.	ENSG00000180881	ENST00000409445;ENST00000393284	T;T	0.80738	-1.41;-1.41	5.63	3.25	0.37280	.	0.135098	0.49305	N	0.000153	D	0.82513	0.5053	M	0.70903	2.155	0.80722	D	1	D;D	0.56521	0.976;0.968	P;P	0.52217	0.693;0.656	T	0.80966	-0.1146	10	0.66056	D	0.02	-14.5169	8.2754	0.31868	0.7968:0.1342:0.069:0.0	.	76;308	Q9BXY5-2;Q9BXY5	.;CAYP2_HUMAN	E	308;76	ENSP00000386959:D308E;ENSP00000376963:D76E	ENSP00000376963:D76E	D	-	3	2	CAPS2	73979001	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	3.191000	0.50981	0.412000	0.25729	0.523000	0.50628	GAT		0.308	CAPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327880.2		
NT5DC3	51559	broad.mit.edu	37	12	104186945	104186945	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr12:104186945C>T	ENST00000392876.3	-	9	1056	c.1016G>A	c.(1015-1017)cGg>cAg	p.R339Q		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	339						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						CACTCACCTCCGCTTATCATT	0.403																																						uc010swe.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						c.(1015-1017)cGg>cAg		Homo sapiens 5'-nucleotidase domain containing 3 (NT5DC3), mRNA.							139.0	147.0	144.0					12																	104186945		2203	4300	6503	SO:0001583	missense	51559						hydrolase activity|metal ion binding	g.chr12:104186945C>T	AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.1016G>A	12.37:g.104186945C>T	ENSP00000376615:p.Arg339Gln						p.R339Q	NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN			8	1057	-			339					Q9NUM7|Q9P2T2|Q9P2T3	Missense_Mutation	SNP	ENST00000392876.3	37	c.1016G>A	CCDS41824.1	.	.	.	.	.	.	.	.	.	.	C	31	5.060491	0.93846	.	.	ENSG00000111696	ENST00000392876	T	0.22539	1.95	5.95	5.95	0.96441	HAD-like domain (1);	0.047041	0.85682	D	0.000000	T	0.17066	0.0410	L	0.31752	0.955	0.58432	D	0.999999	P	0.35628	0.513	B	0.30105	0.111	T	0.02868	-1.1100	10	0.29301	T	0.29	.	18.5772	0.91159	0.0:1.0:0.0:0.0	.	339	Q86UY8	NT5D3_HUMAN	Q	339	ENSP00000376615:R339Q	ENSP00000376615:R339Q	R	-	2	0	NT5DC3	102711075	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.445000	0.80570	2.829000	0.97493	0.655000	0.94253	CGG		0.403	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575	
NOS1	4842	broad.mit.edu	37	12	117710315	117710315	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr12:117710315C>T	ENST00000338101.4	-	9	1718	c.1714G>A	c.(1714-1716)Gtg>Atg	p.V572M	NOS1_ENST00000317775.6_Missense_Mutation_p.V572M|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.V572M(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		ATGTTGGACACGGCGGGGAGG	0.617																																					Esophageal Squamous(162;1748 2599 51982 52956)	uc001twn.2																			1	Substitution - Missense(1)	p.V572M(2)|p.A571A(1)	endometrium(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(1714-1716)Gtg>Atg		Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	L-Citrulline(DB00155)						53.0	59.0	57.0					12																	117710315		2182	4298	6480	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117710315C>T		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.1714G>A	12.37:g.117710315C>T	ENSP00000337459:p.Val572Met					NOS1_uc021ren.1_Missense_Mutation_p.V236M|NOS1_uc021reo.1_Missense_Mutation_p.V236M|NOS1_uc001twm.2_Missense_Mutation_p.V572M	p.V572M	NM_001204218	NP_001191147	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	9	2425	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		572						Missense_Mutation	SNP	ENST00000338101.4	37	c.1714G>A	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	C	31	5.090012	0.94149	.	.	ENSG00000089250	ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.52754	0.65;0.65	4.85	4.85	0.62838	Nitric oxide synthase, oxygenase domain (2);	0.000000	0.85682	D	0.000000	T	0.77452	0.4132	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84250	0.0477	10	0.87932	D	0	-20.5176	18.1863	0.89793	0.0:1.0:0.0:0.0	.	572	P29475	NOS1_HUMAN	M	572	ENSP00000320758:V572M;ENSP00000337459:V572M	ENSP00000320758:V572M	V	-	1	0	NOS1	116194698	1.000000	0.71417	0.953000	0.39169	0.958000	0.62258	7.651000	0.83577	2.514000	0.84764	0.655000	0.94253	GTG		0.617	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1		
TMEM132D	121256	broad.mit.edu	37	12	130015732	130015732	+	Silent	SNP	G	G	A	rs147002439	byFrequency	TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr12:130015732G>A	ENST00000422113.2	-	3	1313	c.987C>T	c.(985-987)ggC>ggT	p.G329G		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	329					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TGATGTTCACGCCTTTCTTCA	0.557													G|||	2	0.000399361	0.0	0.0	5008	,	,		17746	0.001		0.0	False		,,,				2504	0.001					uc009zyl.1																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(985-987)ggC>ggT		Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.		G		0,4406		0,0,2203	126.0	122.0	124.0		987	-5.5	0.0	12	dbSNP_134	124	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TMEM132D	NM_133448.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		329/1100	130015732	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	121256					integral to membrane		g.chr12:130015732G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.987C>T	12.37:g.130015732G>A							p.G329G	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	1315	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	329					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	c.987C>T	CCDS9266.1																																																																																				0.557	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448	
SERPINA10	51156	broad.mit.edu	37	14	94756360	94756360	+	Missense_Mutation	SNP	C	C	T	rs533103231		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr14:94756360C>T	ENST00000393096.1	-	2	1036	c.571G>A	c.(571-573)Gtg>Atg	p.V191M	SERPINA10_ENST00000554723.1_Missense_Mutation_p.V231M|SERPINA10_ENST00000554173.1_Missense_Mutation_p.V191M|SERPINA10_ENST00000261994.4_Missense_Mutation_p.V191M	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	191					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TTCATAGGCACGCACTCTGTA	0.418																																						uc001yct.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33						c.(571-573)Gtg>Atg		Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.							91.0	93.0	92.0					14																	94756360		2203	4300	6503	SO:0001583	missense	51156				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94756360C>T	AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"""Serine (or cysteine) peptidase inhibitors"""	15996	protein-coding gene	gene with protein product		605271	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"""			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.571G>A	14.37:g.94756360C>T	ENSP00000376809:p.Val191Met					SERPINA10_uc001ycu.4_Missense_Mutation_p.V191M	p.V191M	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	1	1037	-		all_cancers(154;0.105)	191					A5Z2A5|Q6UWX9|Q86U20	Missense_Mutation	SNP	ENST00000393096.1	37	c.571G>A	CCDS9923.1	.	.	.	.	.	.	.	.	.	.	C	8.640	0.895800	0.17686	.	.	ENSG00000140093	ENST00000554723;ENST00000393096;ENST00000261994;ENST00000554173	D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83	4.8	1.89	0.25635	Serpin domain (3);	0.378221	0.21157	N	0.079223	D	0.86070	0.5845	L	0.55743	1.74	0.09310	N	1	D	0.76494	0.999	D	0.64595	0.927	T	0.75227	-0.3392	10	0.66056	D	0.02	.	2.587	0.04833	0.2354:0.4836:0.1284:0.1527	.	191	Q9UK55	ZPI_HUMAN	M	231;191;191;191	ENSP00000450896:V231M;ENSP00000376809:V191M;ENSP00000261994:V191M;ENSP00000450971:V191M	ENSP00000261994:V191M	V	-	1	0	SERPINA10	93826113	0.000000	0.05858	0.003000	0.11579	0.131000	0.20780	-0.018000	0.12568	0.431000	0.26258	0.313000	0.20887	GTG		0.418	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413061.1	NM_016186	
CILP	8483	broad.mit.edu	37	15	65489345	65489345	+	Silent	SNP	G	G	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr15:65489345G>T	ENST00000261883.4	-	9	3445	c.3279C>A	c.(3277-3279)ggC>ggA	p.G1093G		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	1093					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CAAAGCACCGGCCGAGCGCGA	0.582																																						uc002aon.2																			0		p.L1092L(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						c.(3277-3279)ggC>ggA		Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.							74.0	53.0	60.0					15																	65489345		2202	4299	6501	SO:0001819	synonymous_variant	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65489345G>T	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.3279C>A	15.37:g.65489345G>T							p.G1093G	NM_003613	NP_003604	O75339	CILP1_HUMAN			8	3460	-			1093					B2R8F7|Q6UW99|Q8IYI5	Silent	SNP	ENST00000261883.4	37	c.3279C>A	CCDS10203.1																																																																																				0.582	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613	
SV2B	9899	broad.mit.edu	37	15	91835641	91835641	+	Silent	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr15:91835641C>T	ENST00000394232.1	+	13	2381	c.1911C>T	c.(1909-1911)ggC>ggT	p.G637G	SV2B_ENST00000330276.4_Silent_p.G637G|SV2B_ENST00000545111.2_Silent_p.G486G	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	637					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			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)			GCAAATTTGGCGCCATCCTGG	0.463																																						uc002bqv.3																			0		p.F636F(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						c.(1909-1911)ggC>ggT		Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.							144.0	133.0	137.0					15																	91835641		2198	4298	6496	SO:0001819	synonymous_variant	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91835641C>T	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.1911C>T	15.37:g.91835641C>T						SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Silent_p.G486G	p.G637G	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		13	2802	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		637					B4DH30|C6G489|O94840|Q6IAR8	Silent	SNP	ENST00000394232.1	37	c.1911C>T	CCDS10370.1																																																																																				0.463	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848	
MSLNL	401827	broad.mit.edu	37	16	822701	822701	+	Silent	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr16:822701G>A	ENST00000442466.1	-	11	1352	c.1353C>T	c.(1351-1353)atC>atT	p.I451I	MSLNL_ENST00000293892.3_Silent_p.I802I|MIR662_ENST00000384847.1_RNA			Q96KJ4	MSLNL_HUMAN	mesothelin-like	451					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CCTGGGGATGGATGGTCTGGA	0.647																																						uc002cjz.1																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						c.(2404-2406)atC>atT		Homo sapiens mesothelin-like (MSLNL), mRNA.							18.0	23.0	21.0					16																	822701		1977	4147	6124	SO:0001819	synonymous_variant	401827				cell adhesion	integral to membrane		g.chr16:822701G>A			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.1353C>T	16.37:g.822701G>A							p.I802I	NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN			11	2406	-			451						Silent	SNP	ENST00000442466.1	37	c.2406C>T																																																																																					0.647	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190	
ERCC4	2072	broad.mit.edu	37	16	14024621	14024621	+	Missense_Mutation	SNP	T	T	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr16:14024621T>A	ENST00000311895.7	+	5	856	c.847T>A	c.(847-849)Tcc>Acc	p.S283T	ERCC4_ENST00000575156.1_Missense_Mutation_p.S283T|CTD-2135D7.2_ENST00000570663.1_RNA|ERCC4_ENST00000574781.1_3'UTR|CTD-2135D7.2_ENST00000575137.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	283	Helicase-like.|Leucine-zipper 2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						CAAGACTAAATCCTTAGTTCA	0.363			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002dce.2			yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"""Mis, N, F"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						c.(847-849)Tcc>Acc	Nucleotide excision repair (NER)	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 4 (ERCC4), mRNA.							93.0	84.0	87.0					16																	14024621		2197	4300	6497	SO:0001583	missense	2072	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr16:14024621T>A	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.847T>A	16.37:g.14024621T>A	ENSP00000310520:p.Ser283Thr					ERCC4_uc010bva.3_Missense_Mutation_p.S283T	p.S283T	NM_005236	NP_005227	Q92889	XPF_HUMAN			4	856	+			283			Leucine-zipper 2.		A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	ENST00000311895.7	37	c.847T>A	CCDS32390.1	.	.	.	.	.	.	.	.	.	.	T	15.91	2.973802	0.53720	.	.	ENSG00000175595	ENST00000311895;ENST00000439007;ENST00000389138	T	0.62941	-0.01	5.9	5.9	0.94986	.	0.046660	0.85682	D	0.000000	T	0.50633	0.1627	N	0.19112	0.55	0.58432	D	0.999995	P;P	0.47910	0.902;0.791	B;B	0.44133	0.442;0.297	T	0.48317	-0.9046	10	0.22706	T	0.39	-26.4696	15.5133	0.75802	0.0:0.0:0.0:1.0	.	283;283	A5PKV6;Q92889	.;XPF_HUMAN	T	283;272;272	ENSP00000310520:S283T	ENSP00000310520:S283T	S	+	1	0	ERCC4	13932122	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	5.030000	0.64128	2.251000	0.74343	0.528000	0.53228	TCC		0.363	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236	
ITPRIPL2	162073	broad.mit.edu	37	16	19126333	19126333	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr16:19126333C>G	ENST00000381440.3	+	1	1080	c.550C>G	c.(550-552)Ccg>Gcg	p.P184A	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	184						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GCGCCTCCCGCCGCTTGTGGC	0.697											OREG0023657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002dfu.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(550-552)Ccg>Gcg		Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein-like 2 (ITPRIPL2), transcript variant 1, mRNA.							9.0	12.0	11.0					16																	19126333		2044	4052	6096	SO:0001583	missense	162073					integral to membrane		g.chr16:19126333C>G		CCDS32395.1	16p12.3	2011-04-28	2011-04-28		ENSG00000205730	ENSG00000205730			27257	protein-coding gene	gene with protein product			"""inositol 1,4,5-triphosphate receptor interacting protein-like 2"""				Standard	NM_001034841		Approved	FLJ22994, MGC126798, MGC126800, LOC162073	uc002dfu.4	Q3MIP1		ENST00000381440.3:c.550C>G	16.37:g.19126333C>G	ENSP00000370849:p.Pro184Ala		OREG0023657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	730	ITPRIPL2_uc002dft.3_5'UTR	p.P184A	NM_001034841	NP_001030013	Q3MIP1	IPIL2_HUMAN			0	1080	+			184						Missense_Mutation	SNP	ENST00000381440.3	37	c.550C>G	CCDS32395.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.636497	0.67130	.	.	ENSG00000205730	ENST00000381440	T	0.14766	2.48	4.67	4.67	0.58626	.	0.130592	0.32563	U	0.005924	T	0.15219	0.0367	N	0.24115	0.695	0.42349	D	0.992361	P	0.51791	0.948	P	0.48738	0.588	T	0.07481	-1.0770	10	0.30078	T	0.28	-22.0837	17.5536	0.87884	0.0:1.0:0.0:0.0	.	184	Q3MIP1	IPIL2_HUMAN	A	184	ENSP00000370849:P184A	ENSP00000370849:P184A	P	+	1	0	ITPRIPL2	19033834	1.000000	0.71417	0.999000	0.59377	0.945000	0.59286	4.253000	0.58791	2.137000	0.66172	0.655000	0.94253	CCG		0.697	ITPRIPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435827.3	NM_001034841	
RANBP10	57610	broad.mit.edu	37	16	67763893	67763893	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr16:67763893G>C	ENST00000317506.3	-	8	1061	c.946C>G	c.(946-948)Cgc>Ggc	p.R316G	RANBP10_ENST00000602677.1_Missense_Mutation_p.R316G|RANBP10_ENST00000536251.1_Missense_Mutation_p.R87G|RANBP10_ENST00000448631.2_Missense_Mutation_p.R260G|RANBP10_ENST00000411657.2_Missense_Mutation_p.R199G	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	316	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.				microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		GGGTAGAAGCGCTGGGTGGTC	0.632																																						uc002eud.3																			0				endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23						c.(946-948)Cgc>Ggc		Homo sapiens RAN binding protein 10 (RANBP10), mRNA.							93.0	82.0	85.0					16																	67763893		2198	4300	6498	SO:0001583	missense	57610							g.chr16:67763893G>C	AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.946C>G	16.37:g.67763893G>C	ENSP00000316589:p.Arg316Gly					RANBP10_uc010ceo.3_Missense_Mutation_p.R87G|RANBP10_uc010vju.2_Missense_Mutation_p.R260G|RANBP10_uc010vjv.2_Missense_Mutation_p.R199G|RANBP10_uc010vjw.1_5'UTR	p.R316G	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)	7	1062	-		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)	316			CTLH.		A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Missense_Mutation	SNP	ENST00000317506.3	37	c.946C>G	CCDS32469.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.335958	0.60853	.	.	ENSG00000141084	ENST00000317506;ENST00000448631;ENST00000536251;ENST00000411657	.	.	.	6.07	5.11	0.69529	CTLH, C-terminal LisH motif (2);	0.162443	0.56097	D	0.000024	T	0.58308	0.2113	L	0.39898	1.24	0.80722	D	1	B;B;B	0.27910	0.182;0.073;0.193	B;B;B	0.36418	0.095;0.08;0.224	T	0.58103	-0.7695	9	0.46703	T	0.11	-19.1614	13.5493	0.61723	0.0725:0.0:0.9275:0.0	.	199;260;316	B4DID0;B4DQH9;Q6VN20	.;.;RBP10_HUMAN	G	316;260;87;199	.	ENSP00000316589:R316G	R	-	1	0	RANBP10	66321394	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.438000	0.97539	1.577000	0.49804	0.655000	0.94253	CGC		0.632	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467896.1	NM_020850	
DNAH2	146754	broad.mit.edu	37	17	7671485	7671485	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr17:7671485C>T	ENST00000572933.1	+	24	5301	c.3841C>T	c.(3841-3843)Cga>Tga	p.R1281*	DNAH2_ENST00000389173.2_Nonsense_Mutation_p.R1281*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1281	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGCTCAGGACCGAAACTGGGA	0.547																																						uc002giu.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(3841-3843)Cga>Tga		Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.							127.0	134.0	132.0					17																	7671485		2203	4300	6503	SO:0001587	stop_gained	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7671485C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.3841C>T	17.37:g.7671485C>T	ENSP00000458355:p.Arg1281*						p.R1281*	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			22	3855	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1281			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Nonsense_Mutation	SNP	ENST00000572933.1	37	c.3841C>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	41	8.698272	0.98918	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	.	.	.	4.26	3.27	0.37495	.	0.639994	0.13888	N	0.355797	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.3906	0.44166	0.355:0.645:0.0:0.0	.	.	.	.	X	1281	.	ENSP00000353818:R1281X	R	+	1	2	DNAH2	7612210	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	2.745000	0.47459	0.751000	0.32900	0.561000	0.74099	CGA		0.547	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
DSG1	1828	broad.mit.edu	37	18	28913591	28913591	+	Nonsense_Mutation	SNP	C	C	T	rs568609861		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr18:28913591C>T	ENST00000257192.4	+	7	936	c.724C>T	c.(724-726)Cga>Tga	p.R242*		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	242	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AGGCTCTGACCGAGATGGCGG	0.428																																						uc002kwp.3																			0				NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(724-726)Cga>Tga		Homo sapiens desmoglein 1 (DSG1), mRNA.							133.0	120.0	124.0					18																	28913591		2203	4300	6503	SO:0001587	stop_gained	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28913591C>T	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.724C>T	18.37:g.28913591C>T	ENSP00000257192:p.Arg242*						p.R242*	NM_001942	NP_001933	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		6	936	+			242			Cadherin 2.		B7Z845	Nonsense_Mutation	SNP	ENST00000257192.4	37	c.724C>T	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856665	0.71834	.	.	ENSG00000134760	ENST00000257192	.	.	.	5.82	-4.55	0.03441	.	0.245803	0.27871	N	0.017502	.	.	.	.	.	.	0.39368	D	0.966044	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	23.0013	0.99978	0.8461:0.1538:0.0:0.0	.	.	.	.	X	242	.	ENSP00000257192:R242X	R	+	1	2	DSG1	27167589	0.006000	0.16342	0.673000	0.29887	0.039000	0.13416	-0.974000	0.03794	-0.574000	0.05990	-0.152000	0.13540	CGA		0.428	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942	
MUC16	94025	broad.mit.edu	37	19	8996490	8996490	+	Silent	SNP	A	A	G			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:8996490A>G	ENST00000397910.4	-	61	41285	c.41082T>C	c.(41080-41082)ccT>ccC	p.P13694P	MUC16_ENST00000380951.5_Silent_p.P335P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13696	SEA 11. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CATCCTTTTCAGGCCTGGAGA	0.542																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(41080-41082)ccT>ccC		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							52.0	47.0	49.0					19																	8996490		1889	4114	6003	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8996490A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.41082T>C	19.37:g.8996490A>G						MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.P511P|MUC16_uc021uog.1_Non-coding_Transcript	p.P13694P	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			60	41286	-			13696	Missing (in Ref. 3; AAK74120).		SEA 11.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.41082T>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	3.210	-0.161856	0.06502	.	.	ENSG00000181143	ENST00000542240	.	.	.	3.36	-6.73	0.01749	.	.	.	.	.	T	0.19287	0.0463	.	.	.	.	.	.	.	.	.	.	.	.	T	0.21552	-1.0242	3	.	.	.	-2.1149	4.5103	0.11908	0.1776:0.1387:0.5467:0.1369	.	.	.	.	P	534	.	.	L	-	2	0	MUC16	8857490	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-4.414000	0.00237	-2.006000	0.00958	-0.560000	0.04181	CTG		0.542	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
RASAL3	64926	broad.mit.edu	37	19	15571922	15571922	+	Silent	SNP	A	A	G			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:15571922A>G	ENST00000343625.7	-	5	640	c.555T>C	c.(553-555)ccT>ccC	p.P185P	RASAL3_ENST00000608577.1_5'Flank	NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	185					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CTGTTTTTCCAGGCATCCGAT	0.582																																						uc002nbe.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						c.(553-555)ccT>ccC		Homo sapiens RAS protein activator like 3 (RASAL3), mRNA.							55.0	55.0	55.0					19																	15571922		1910	4106	6016	SO:0001819	synonymous_variant	64926				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr19:15571922A>G		CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.555T>C	19.37:g.15571922A>G							p.P185P	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN			4	641	-			185					Q8N2T9|Q9H735	Silent	SNP	ENST00000343625.7	37	c.555T>C	CCDS46006.1																																																																																				0.582	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461331.3	NM_022904	
ZNF507	22847	broad.mit.edu	37	19	32847587	32847609	+	Frame_Shift_Del	DEL	TAATGAGCCAAGAATTTCCAGTG	TAATGAGCCAAGAATTTCCAGTG	-			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:32847587_32847609delTAATGAGCCAAGAATTTCCAGTG	ENST00000311921.4	+	3	2385_2407	c.2193_2215delTAATGAGCCAAGAATTTCCAGTG	c.(2191-2217)tctaatgagccaagaatttccagtgatfs	p.NEPRISSD732fs	ZNF507_ENST00000544431.1_Frame_Shift_Del_p.NEPRISSD732fs|ZNF507_ENST00000355898.5_Frame_Shift_Del_p.NEPRISSD732fs	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	732					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(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TAGCAACTTCTAATGAGCCAAGAATTTCCAGTGATACAGCTGA	0.381																																						uc002nte.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31						c.(2191-2217)tctaatgagccaagaatttccagtgatfs		Homo sapiens zinc finger protein 507 (ZNF507), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	22847				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:32847587_32847609delTAATGAGCCAAGAATTTCCAGTG	AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.2193_2215delTAATGAGCCAAGAATTTCCAGTG	19.37:g.32847587_32847609delTAATGAGCCAAGAATTTCCAGTG	ENSP00000312277:p.Asn732fs					ZNF507_uc002ntc.2_Frame_Shift_Del_p.S731fs|ZNF507_uc010xrn.1_Frame_Shift_Del_p.S731fs|ZNF507_uc002ntd.3_Frame_Shift_Del_p.S731fs	p.S731fs	NM_001136156	NP_055725	Q8TCN5	ZN507_HUMAN			3	2465_2487	+	Esophageal squamous(110;0.162)		731					A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Frame_Shift_Del	DEL	ENST00000311921.4	37	c.2193_2215delTAATGAGCCAAGAATTTCCAGTG	CCDS32985.1																																																																																				0.381	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3	NM_014910	
OPA3	80207	broad.mit.edu	37	19	46056784	46056784	+	Silent	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:46056784C>T	ENST00000263275.4	-	2	582	c.528G>A	c.(526-528)gcG>gcA	p.A176A	OPA3_ENST00000544371.1_Silent_p.A123A|OPA3_ENST00000323060.3_Intron	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	176					growth (GO:0040007)|mitochondrion morphogenesis (GO:0070584)|neuromuscular process (GO:0050905)|regulation of lipid metabolic process (GO:0019216)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	mitochondrion (GO:0005739)				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		ATTTCTTGGACGCAGGCACTG	0.637																																						uc002pcj.4																			0				cervix(1)|large_intestine(1)|lung(2)	4								Homo sapiens optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) (OPA3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							49.0	55.0	53.0					19																	46056784		2172	4241	6413	SO:0001819	synonymous_variant	80207				response to stimulus|visual perception	mitochondrion		g.chr19:46056784C>T	AK025840	CCDS12668.1, CCDS33052.1	19q13.2-q13.3	2014-01-28				ENSG00000125741			8142	protein-coding gene	gene with protein product		606580				9097959, 11668429	Standard	NM_001017989		Approved	FLJ22187, MGA3	uc002pcj.4	Q9H6K4		ENST00000263275.4:c.528G>A	19.37:g.46056784C>T						OPA3_uc002pck.4_Silent_p.A176A|OPA3_uc010xxk.2_Silent_p.A123A		NM_001017989	NP_001017989	Q9H6K4	OPA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)			-		Ovarian(192;0.051)|all_neural(266;0.112)						Q6P384|Q8N784	Silent	SNP	ENST00000263275.4	37		CCDS12668.1																																																																																				0.637	OPA3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459601.1		
CCDC114	93233	broad.mit.edu	37	19	48805978	48805978	+	Missense_Mutation	SNP	G	G	A	rs200690633		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:48805978G>A	ENST00000315396.7	-	10	1784	c.1102C>T	c.(1102-1104)Cgg>Tgg	p.R368W		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	368					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		AGCTGTCCCCGCACATCCTGG	0.647																																						uc002pir.2																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24						c.(1102-1104)Cgg>Tgg		Homo sapiens coiled-coil domain containing 114 (CCDC114), transcript variant 2, mRNA.			TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	49.0	47.0	48.0		1102	-1.2	0.0	19		48	0,8600		0,0,4300	yes	missense	CCDC114	NM_144577.3	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	368/671	48805978	1,13005	2203	4300	6503	SO:0001583	missense	93233							g.chr19:48805978G>A	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.1102C>T	19.37:g.48805978G>A	ENSP00000318429:p.Arg368Trp					CCDC114_uc002piq.2_Missense_Mutation_p.R177W|CCDC114_uc002pio.3_Missense_Mutation_p.R405W|CCDC114_uc002pis.1_Missense_Mutation_p.R48W|CCDC114_uc002pit.1_Missense_Mutation_p.R405W	p.R368W	NM_144577	NP_653178	Q96M63	CC114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)	9	1785	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	368					Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	ENST00000315396.7	37	c.1102C>T	CCDS12714.2	.	.	.	.	.	.	.	.	.	.	g	14.26	2.481199	0.44147	2.27E-4	0.0	ENSG00000105479	ENST00000315396	T	0.25085	1.82	3.88	-1.25	0.09405	.	0.277154	0.19264	N	0.118599	T	0.27205	0.0667	L	0.34521	1.04	0.09310	N	1	D;D;D	0.89917	0.998;1.0;0.998	P;D;P	0.67725	0.738;0.953;0.738	T	0.10683	-1.0619	10	0.66056	D	0.02	-8.3772	1.5408	0.02554	0.1168:0.1834:0.3475:0.3523	.	161;368;368	Q96M63-4;Q96M63;Q96M63-5	.;CC114_HUMAN;.	W	368	ENSP00000318429:R368W	ENSP00000318429:R368W	R	-	1	2	CCDC114	53497790	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.219000	0.17641	0.051000	0.15978	0.538000	0.68166	CGG		0.647	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577	
CA11	770	broad.mit.edu	37	19	49143426	49143426	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:49143426G>C	ENST00000084798.4	-	4	1076	c.397C>G	c.(397-399)Ctg>Gtg	p.L133V	SEC1P_ENST00000430145.2_RNA|DBP_ENST00000222122.5_5'Flank|DBP_ENST00000601104.1_5'Flank	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	133						basolateral plasma membrane (GO:0016323)|extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	Zonisamide(DB00909)	AGCAGCCGCAGTTCACTGAGT	0.592																																						uc002pjz.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14						c.(397-399)Ctg>Gtg		Homo sapiens carbonic anhydrase XI (CA11), mRNA.							81.0	76.0	78.0					19																	49143426		2203	4300	6503	SO:0001583	missense	770					extracellular region		g.chr19:49143426G>C	AF067662	CCDS12729.1	19q13.3	2012-07-02			ENSG00000063180	ENSG00000063180		"""Carbonic anhydrases"""	1370	protein-coding gene	gene with protein product	"""CA-RP XI"", ""carbonic anhydrase-related protein XI"", ""carbonic anhydrase-related protein 2"""	604644				9878252	Standard	XR_243956		Approved	CARP2, CARPX1	uc002pjz.1	O75493		ENST00000084798.4:c.397C>G	19.37:g.49143426G>C	ENSP00000084798:p.Leu133Val					SEC1_uc010xzv.2_Intron|SEC1_uc002pka.3_Intron|SEC1_uc010xzw.2_Intron|SEC1_uc010ema.3_Intron|DBP_uc002pjx.4_5'Flank|DBP_uc002pjy.2_5'Flank|DBP_uc010elz.1_5'Flank	p.L133V	NM_001217	NP_001208	O75493	CAH11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	3	959	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	133					O60596|Q6FHI1|Q9UEC4	Missense_Mutation	SNP	ENST00000084798.4	37	c.397C>G	CCDS12729.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.505831	0.26949	.	.	ENSG00000063180	ENST00000084798	T	0.69435	-0.4	3.56	1.36	0.22044	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.190129	0.35151	N	0.003401	T	0.43656	0.1257	N	0.17082	0.46	0.32521	N	0.536236	B	0.19200	0.034	B	0.20955	0.032	T	0.36138	-0.9760	10	0.45353	T	0.12	.	4.2577	0.10726	0.1222:0.0:0.6526:0.2252	.	133	O75493	CAH11_HUMAN	V	133	ENSP00000084798:L133V	ENSP00000084798:L133V	L	-	1	2	CA11	53835238	0.997000	0.39634	0.981000	0.43875	0.993000	0.82548	0.414000	0.21164	0.323000	0.23307	0.462000	0.41574	CTG		0.592	CA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466172.1	NM_001217	
SIGLEC10	89790	broad.mit.edu	37	19	51919569	51919569	+	Missense_Mutation	SNP	G	G	A	rs200888407		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:51919569G>A	ENST00000339313.5	-	4	865	c.749C>T	c.(748-750)aCg>aTg	p.T250M	SIGLEC10_ENST00000442846.3_Missense_Mutation_p.T192M|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.T167M|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.T250M|CTD-2616J11.3_ENST00000532473.1_RNA|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.T250M|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.T192M|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.T192M|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.T202M|SIGLEC10_ENST00000353836.5_Missense_Mutation_p.T250M			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	250					cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		AGTACCTGGCGTGTTGTCACG	0.547													g|||	1	0.000199681	0.0008	0.0	5008	,	,		16377	0.0		0.0	False		,,,				2504	0.0					uc002pwo.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(748-750)aCg>aTg		Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.							120.0	121.0	121.0					19																	51919569		2203	4300	6503	SO:0001583	missense	89790				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr19:51919569G>A	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.749C>T	19.37:g.51919569G>A	ENSP00000345243:p.Thr250Met					SIGLEC10_uc002pwp.3_Missense_Mutation_p.T192M|SIGLEC10_uc021uyl.1_Missense_Mutation_p.T167M|SIGLEC10_uc002pwq.3_Missense_Mutation_p.T192M|SIGLEC10_uc010ycz.2_Missense_Mutation_p.T202M|SIGLEC10_uc002pws.2_Missense_Mutation_p.T192M|SIGLEC10_uc002pwr.3_Missense_Mutation_p.T250M|SIGLEC10_uc010ycy.2_Missense_Mutation_p.T250M|SIGLEC10_uc010eow.3_Missense_Mutation_p.R15C|LOC100129083_uc021uym.1_Intron	p.T250M	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)	3	971	-		all_neural(266;0.0199)	250					A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	ENST00000339313.5	37	c.749C>T	CCDS12832.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	8.262	0.811381	0.16537	.	.	ENSG00000142512	ENST00000353836;ENST00000432469;ENST00000442846;ENST00000356298;ENST00000441969;ENST00000525998;ENST00000439889;ENST00000436984;ENST00000339313;ENST00000529627	T;T;T;T;T;T;T;T;T;T	0.62364	0.86;2.14;1.66;0.73;1.95;1.84;0.6;1.89;0.73;0.03	4.4	-8.8	0.00817	.	1.373680	0.04807	N	0.434525	T	0.45316	0.1336	L	0.51422	1.61	0.09310	N	1	B;B;P;B;B;B;P	0.51147	0.162;0.403;0.942;0.108;0.33;0.287;0.607	B;B;B;B;B;B;B	0.40199	0.029;0.026;0.322;0.063;0.071;0.064;0.066	T	0.53222	-0.8469	10	0.46703	T	0.11	.	2.474	0.04571	0.2499:0.4272:0.1259:0.197	.	202;250;192;250;192;192;250	C9JM10;E9PL79;C9JJ33;Q96LC7-2;Q96LC7-6;Q96LC7-3;Q96LC7	.;.;.;.;.;.;SIG10_HUMAN	M	250;167;192;250;192;250;192;202;250;64	ENSP00000342389:T250M;ENSP00000396742:T167M;ENSP00000395475:T192M;ENSP00000348646:T250M;ENSP00000408387:T192M;ENSP00000431444:T250M;ENSP00000389132:T192M;ENSP00000414324:T202M;ENSP00000345243:T250M;ENSP00000435281:T64M	ENSP00000345243:T250M	T	-	2	0	SIGLEC10	56611381	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.445000	0.02401	-1.642000	0.01521	-0.680000	0.03767	ACG		0.547	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130	
LILRB4	11006	broad.mit.edu	37	19	55175317	55175317	+	Missense_Mutation	SNP	G	G	A	rs377613190		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:55175317G>A	ENST00000391736.1	+	5	491	c.176G>A	c.(175-177)cGt>cAt	p.R59H	LILRB4_ENST00000270452.2_Missense_Mutation_p.R59H|LILRB4_ENST00000430952.2_Missense_Mutation_p.R59H|LILRB4_ENST00000391734.3_Missense_Mutation_p.R59H|LILRB4_ENST00000391733.3_Missense_Mutation_p.R59H	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	59	Ig-like C2-type 1.				immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CGGGAGTACCGTCTGGATAAA	0.587																																						uc002qgp.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39						c.(175-177)cGt>cAt		Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	186.0	173.0	178.0		176,176	-4.9	0.0	19		178	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LILRB4	NM_001081438.1,NM_006847.3	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	59/448,59/449	55175317	1,13005	2203	4300	6503	SO:0001583	missense	11006					integral to membrane|plasma membrane	antigen binding|receptor activity	g.chr19:55175317G>A	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.176G>A	19.37:g.55175317G>A	ENSP00000375616:p.Arg59His					LILRB4_uc002qgo.1_Missense_Mutation_p.R100H|LILRB4_uc002qgq.3_Missense_Mutation_p.R59H|LILRB4_uc010ers.1_5'UTR|LILRB4_uc010ert.3_Missense_Mutation_p.R100H|LILRB4_uc010eru.3_Missense_Mutation_p.R88H	p.R59H	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN		GBM - Glioblastoma multiforme(193;0.035)	2	538	+			59			Ig-like C2-type 1.		A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	c.176G>A	CCDS12902.1	.	.	.	.	.	.	.	.	.	.	G	0.188	-1.055662	0.01965	0.0	1.16E-4	ENSG00000186818	ENST00000420271;ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733;ENST00000434286	T;T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66;2.66	2.43	-4.87	0.03123	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.06416	0.0165	N	0.21097	0.63	0.09310	N	1	B;B;B;B;B;B	0.21381	0.033;0.055;0.027;0.0;0.004;0.045	B;B;B;B;B;B	0.24269	0.052;0.02;0.007;0.002;0.003;0.016	T	0.27502	-1.0072	9	0.29301	T	0.29	.	0.3278	0.00314	0.3454:0.1334:0.1862:0.335	.	59;59;59;59;59;100	A8MUE1;C9JST2;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6;C9JHA6	.;.;.;.;LIRB4_HUMAN;.	H	100;59;59;59;59;59;59	ENSP00000375616:R59H;ENSP00000270452:R59H;ENSP00000408995:R59H;ENSP00000375614:R59H;ENSP00000375613:R59H;ENSP00000401962:R59H	ENSP00000270452:R59H	R	+	2	0	LILRB4	59867129	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-8.816000	0.00016	-3.203000	0.00216	-0.513000	0.04457	CGT		0.587	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3		
NLRP7	199713	broad.mit.edu	37	19	55450816	55450816	+	Silent	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:55450816G>A	ENST00000590030.1	-	3	1411	c.1371C>T	c.(1369-1371)gaC>gaT	p.D457D	NLRP7_ENST00000340844.2_Silent_p.D457D|NLRP7_ENST00000448121.2_Silent_p.D457D|NLRP7_ENST00000446217.1_Silent_p.D485D|NLRP7_ENST00000328092.5_Silent_p.D457D|NLRP7_ENST00000592784.1_Silent_p.D457D|NLRP7_ENST00000588756.1_Silent_p.D457D			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	457	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TGGAGACTCTGTCCTGGCGGA	0.617																																						uc002qih.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(1369-1371)gaC>gaT		Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.							35.0	34.0	34.0					19																	55450816		2203	4297	6500	SO:0001819	synonymous_variant	199713						ATP binding	g.chr19:55450816G>A	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1371C>T	19.37:g.55450816G>A						NLRP7_uc010esk.3_Silent_p.D457D|NLRP7_uc002qig.4_Silent_p.D457D|NLRP7_uc002qii.4_Silent_p.D457D|NLRP7_uc010esl.3_Silent_p.D485D	p.D457D	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	3	1447	-			457			NACHT.		E9PE16|Q32MH8|Q7RTR1	Silent	SNP	ENST00000590030.1	37	c.1371C>T	CCDS33109.1																																																																																				0.617	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176	
PTPRH	5794	broad.mit.edu	37	19	55708508	55708508	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:55708508G>A	ENST00000376350.3	-	9	1989	c.1967C>T	c.(1966-1968)aCg>aTg	p.T656M	PTPRH_ENST00000263434.5_Missense_Mutation_p.T478M|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	656	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GAGGCTCTGCGTGGAACTGGC	0.547																																						uc002qjq.3																			0				breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67						c.(1966-1968)aCg>aTg		Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.							126.0	98.0	108.0					19																	55708508		2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55708508G>A		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.1967C>T	19.37:g.55708508G>A	ENSP00000365528:p.Thr656Met					PTPRH_uc010esv.3_Missense_Mutation_p.T478M|PTPRH_uc002qjs.2_Missense_Mutation_p.T663M	p.T656M	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	8	2040	-		Renal(1328;0.245)	656			Fibronectin type-III 7.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.1967C>T	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	G	8.429	0.848150	0.17034	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.06371	3.31;4.28	5.24	-10.5	0.00291	Fibronectin, type III (2);	2.198960	0.02515	N	0.091963	T	0.02380	0.0073	N	0.08118	0	0.09310	N	1	B;B;B	0.26935	0.164;0.136;0.147	B;B;B	0.22753	0.031;0.018;0.041	T	0.35919	-0.9769	10	0.45353	T	0.12	.	1.0753	0.01631	0.3001:0.2524:0.2783:0.1692	.	478;478;656	C9JCH2;Q9HD43-2;Q9HD43	.;.;PTPRH_HUMAN	M	656;478	ENSP00000365528:T656M;ENSP00000263434:T478M	ENSP00000263434:T478M	T	-	2	0	PTPRH	60400320	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.229000	0.00549	-2.245000	0.00705	-2.325000	0.00251	ACG		0.547	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1		
SNTG2	54221	broad.mit.edu	37	2	1271318	1271318	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr2:1271318C>T	ENST00000308624.5	+	14	1388	c.1259C>T	c.(1258-1260)aCg>aTg	p.T420M	SNTG2_ENST00000407292.1_Missense_Mutation_p.T293M	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	420	PH.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CAAAGAGCCACGTTCATGGAA	0.527																																						uc002qwq.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1258-1260)aCg>aTg		Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.							38.0	38.0	38.0					2																	1271318		1970	4150	6120	SO:0001583	missense	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1271318C>T	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.1259C>T	2.37:g.1271318C>T	ENSP00000311837:p.Thr420Met					SNTG2_uc010ewi.3_Missense_Mutation_p.T293M	p.T420M	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	13	1388	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	420			PH.		Q05AH5	Missense_Mutation	SNP	ENST00000308624.5	37	c.1259C>T	CCDS46220.1	.	.	.	.	.	.	.	.	.	.	C	3.962	-0.010150	0.07727	.	.	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.76839	-1.05;-1.05	4.61	2.48	0.30137	Pleckstrin homology domain (1);	0.119063	0.56097	D	0.000023	T	0.63651	0.2529	L	0.59436	1.845	0.22389	N	0.999146	P;B	0.38167	0.621;0.037	B;B	0.24006	0.05;0.009	T	0.60811	-0.7189	10	0.59425	D	0.04	.	4.3025	0.10932	0.0:0.4605:0.0:0.5395	.	293;420	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	M	420;293	ENSP00000311837:T420M;ENSP00000385020:T293M	ENSP00000311837:T420M	T	+	2	0	SNTG2	1253899	0.826000	0.29277	0.219000	0.23793	0.011000	0.07611	2.335000	0.43929	0.907000	0.36646	-0.137000	0.14449	ACG		0.527	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968	
TTN	7273	broad.mit.edu	37	2	179425883	179425883	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr2:179425883G>A	ENST00000591111.1	-	276	80277	c.80053C>T	c.(80053-80055)Cgg>Tgg	p.R26685W	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R25758W|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R19261W|TTN_ENST00000342175.6_Missense_Mutation_p.R19453W|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R19386W|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R28326W|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26685	Fibronectin type-III 94. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAAAAACCCGGAATTCATAA	0.403																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(77272-77274)Cgg>Tgg		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							86.0	83.0	84.0					2																	179425883		1896	4110	6006	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179425883G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.80053C>T	2.37:g.179425883G>A	ENSP00000465570:p.Arg26685Trp					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R19453W|TTN_uc021vta.1_Missense_Mutation_p.R19386W|TTN_uc021vtb.1_Missense_Mutation_p.R19261W	p.R25758W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		274	77497	-			26685			Fibronectin type-III 87.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.77272C>T		.	.	.	.	.	.	.	.	.	.	G	13.13	2.144790	0.37825	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.84	5.84	0.93424	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.86830	0.6027	H	0.98818	4.34	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.72075	0.976;0.976;0.976;0.976	D	0.91608	0.5300	9	0.87932	D	0	.	20.1386	0.98045	0.0:0.0:1.0:0.0	.	19261;19386;19453;26685	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	W	25758;19261;19453;19386;19259	ENSP00000343764:R25758W;ENSP00000434586:R19261W;ENSP00000340554:R19453W;ENSP00000352154:R19386W	ENSP00000340554:R19453W	R	-	1	2	TTN	179134129	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.625000	0.67770	2.767000	0.95098	0.561000	0.74099	CGG		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
NMUR1	10316	broad.mit.edu	37	2	232393454	232393454	+	Missense_Mutation	SNP	G	G	A	rs201125357		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr2:232393454G>A	ENST00000305141.4	-	2	411	c.278C>T	c.(277-279)aCg>aTg	p.T93M		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	93					activation of phospholipase C activity (GO:0007202)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|chloride transport (GO:0006821)|G-protein coupled receptor signaling pathway (GO:0007186)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|smooth muscle contraction (GO:0006939)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuromedin U receptor activity (GO:0001607)|neuropeptide receptor activity (GO:0008188)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GTTGGTAGGCGTGCGCATGGC	0.612													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20860	0.0		0.0	False		,,,				2504	0.0					uc002vry.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24						c.(277-279)aCg>aTg		Homo sapiens neuromedin U receptor 1 (NMUR1), mRNA.							98.0	93.0	95.0					2																	232393454		2203	4300	6503	SO:0001583	missense	10316				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity	g.chr2:232393454G>A	AF044600	CCDS2486.1	2q37.1	2012-08-08	2004-05-27	2004-05-28	ENSG00000171596	ENSG00000171596		"""GPCR / Class A : Neuromedin U receptors"""	4518	protein-coding gene	gene with protein product		604153	"""G protein-coupled receptor 66"""	GPR66		9782091	Standard	NM_006056		Approved	GPC-R, FM-3, NMU1R	uc002vry.4	Q9HB89	OTTHUMG00000133225	ENST00000305141.4:c.278C>T	2.37:g.232393454G>A	ENSP00000305877:p.Thr93Met						p.T93M	NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	1	388	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)	93					O43664|Q7LDP6|Q8NE20	Missense_Mutation	SNP	ENST00000305141.4	37	c.278C>T	CCDS2486.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	21.4	4.147140	0.77888	.	.	ENSG00000171596	ENST00000305141	T	0.46819	0.86	5.21	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	0.107337	0.64402	D	0.000005	T	0.80949	0.4722	H	0.99261	4.49	0.52099	D	0.999946	D	0.89917	1.0	D	0.87578	0.998	D	0.87592	0.2491	10	0.87932	D	0	-19.6708	12.6924	0.56982	0.0799:0.0:0.9201:0.0	.	93	Q9HB89	NMUR1_HUMAN	M	93	ENSP00000305877:T93M	ENSP00000305877:T93M	T	-	2	0	NMUR1	232101698	1.000000	0.71417	0.995000	0.50966	0.887000	0.51463	7.953000	0.87836	1.210000	0.43336	0.555000	0.69702	ACG		0.612	NMUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256961.1	NM_006056	
PCSK2	5126	broad.mit.edu	37	20	17445987	17445987	+	Missense_Mutation	SNP	C	C	T	rs138900084		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr20:17445987C>T	ENST00000262545.2	+	11	1534	c.1219C>T	c.(1219-1221)Cgg>Tgg	p.R407W	PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000536609.1_Missense_Mutation_p.R372W|PCSK2_ENST00000377899.1_Missense_Mutation_p.R388W	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	407	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TCTGACCTGGCGGGACATGCA	0.552																																						uc002wpm.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1219-1221)Cgg>Tgg		Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						71.0	54.0	60.0					20																	17445987		2203	4300	6503	SO:0001583	missense	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17445987C>T	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1219C>T	20.37:g.17445987C>T	ENSP00000262545:p.Arg407Trp					PCSK2_uc002wpl.3_Missense_Mutation_p.R388W|PCSK2_uc010zrm.2_Missense_Mutation_p.R372W|PCSK2_uc002wpn.3_Missense_Mutation_p.R61W	p.R407W	NM_002594	NP_001188457	P16519	NEC2_HUMAN			10	1573	+			407			Catalytic.		B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	c.1219C>T	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.957113	0.73902	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	D;D;D	0.88277	-2.36;-2.36;-2.36	5.61	-1.12	0.09808	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.95790	0.8630	H	0.96547	3.84	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96527	0.9390	10	0.87932	D	0	-11.855	16.6645	0.85249	0.6934:0.3066:0.0:0.0	.	372;388;407	B4DFQ3;B1ANH9;P16519	.;.;NEC2_HUMAN	W	388;407;372	ENSP00000367131:R388W;ENSP00000262545:R407W;ENSP00000437458:R372W	ENSP00000262545:R407W	R	+	1	2	PCSK2	17393987	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	0.976000	0.29462	-0.032000	0.13758	-0.226000	0.12346	CGG		0.552	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594	
TPX2	22974	broad.mit.edu	37	20	30371716	30371716	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr20:30371716G>T	ENST00000300403.6	+	12	1933	c.1405G>T	c.(1405-1407)Gat>Tat	p.D469Y	TPX2_ENST00000340513.4_Missense_Mutation_p.D505Y	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	469					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			GATTTTGGAAGATGTTGTGGT	0.413																																						uc002wwp.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(1405-1407)Gat>Tat		Homo sapiens TPX2, microtubule-associated, homolog (Xenopus laevis) (TPX2), mRNA.							127.0	110.0	116.0					20																	30371716		2203	4300	6503	SO:0001583	missense	22974				activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	g.chr20:30371716G>T	AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"""chromosome 20 open reading frame 1"", ""TPX2, microtubule-associated, homolog (Xenopus laevis)"""	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.1405G>T	20.37:g.30371716G>T	ENSP00000300403:p.Asp469Tyr					TPX2_uc010gdv.1_Missense_Mutation_p.D505Y	p.D469Y	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)		11	2103	+			469					Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Missense_Mutation	SNP	ENST00000300403.6	37	c.1405G>T	CCDS13190.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.421461	0.83559	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.32515	1.45	5.49	5.49	0.81192	.	0.113853	0.64402	D	0.000015	T	0.56352	0.1979	M	0.68317	2.08	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.87578	0.993;0.998	T	0.57963	-0.7720	10	0.72032	D	0.01	-19.1776	18.369	0.90400	0.0:0.0:1.0:0.0	.	505;469	Q96RR5;Q9ULW0	.;TPX2_HUMAN	Y	469;505	ENSP00000341145:D505Y	ENSP00000300403:D469Y	D	+	1	0	TPX2	29835377	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.684000	0.74538	2.573000	0.86826	0.650000	0.86243	GAT		0.413	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2		
BPI	671	broad.mit.edu	37	20	36932646	36932646	+	Silent	SNP	C	C	T	rs532589861|rs397794979	byFrequency	TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr20:36932646C>T	ENST00000262865.4	+	1	122	c.33C>T	c.(31-33)aaC>aaT	p.N11N	CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	11					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				GCCCTTGCAACGCGCCGAGAT	0.627													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16803	0.0		0.0	False		,,,				2504	0.0					uc002xib.2																			0				kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30						c.(31-33)aaC>aaT		Homo sapiens bactericidal/permeability-increasing protein (BPI), mRNA.							74.0	74.0	74.0					20																	36932646		2203	4300	6503	SO:0001819	synonymous_variant	671				defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	g.chr20:36932646C>T	J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"""BPI fold containing"""	1095	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 1"""	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.33C>T	20.37:g.36932646C>T							p.N11N	NM_001725	NP_001716	P17213	BPI_HUMAN			0	95	+		Myeloproliferative disorder(115;0.00878)	11					B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Silent	SNP	ENST00000262865.4	37	c.33C>T	CCDS13303.1																																																																																				0.627	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725	
KRTAP10-9	386676	broad.mit.edu	37	21	46047200	46047200	+	Missense_Mutation	SNP	G	G	A	rs201090014		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr21:46047200G>A	ENST00000397911.3	+	1	161	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	KRTAP10-9_ENST00000484861.1_3'UTR|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	38	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						CAGCTGCTGCGCCCCGGCCCC	0.687																																						uc002zfp.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						c.(112-114)Gcc>Acc		Homo sapiens keratin associated protein 10-9 (KRTAP10-9), mRNA.		G	,THR/ALA	0,4352		0,0,2176	33.0	43.0	40.0		,112	-3.5	0.2	21		40	3,8535		0,3,4266	no	intron,missense	TSPEAR,KRTAP10-9	NM_144991.2,NM_198690.2	,58	0,3,6442	AA,AG,GG		0.0351,0.0,0.0233	,benign	,38/293	46047200	3,12887	2176	4269	6445	SO:0001583	missense	386676					keratin filament		g.chr21:46047200G>A	AJ566386	CCDS42961.1	21q22.3	2007-10-05			ENSG00000221837	ENSG00000221837		"""Keratin associated proteins"""	22971	protein-coding gene	gene with protein product				KRTAP18-9			Standard	NM_198690		Approved	KAP10.9, KAP18.9	uc002zfp.4	P60411	OTTHUMG00000057637	ENST00000397911.3:c.112G>A	21.37:g.46047200G>A	ENSP00000381009:p.Ala38Thr					TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	p.A38T	NM_198690	NP_941963	P60411	KR109_HUMAN			0	161	+			38			25 X 5 AA repeats of C-C-X(3).		A2RRG1|A6NIR9|Q70LJ1	Missense_Mutation	SNP	ENST00000397911.3	37	c.112G>A	CCDS42961.1	.	.	.	.	.	.	.	.	.	.	g	0.280	-0.986763	0.02180	0.0	3.51E-4	ENSG00000221837	ENST00000397911	T	0.04654	3.58	3.63	-3.45	0.04781	.	.	.	.	.	T	0.03263	0.0095	L	0.49455	1.56	0.09310	N	1	B	0.28178	0.202	B	0.17433	0.018	T	0.47071	-0.9145	9	0.14252	T	0.57	.	1.361	0.02191	0.439:0.1847:0.2407:0.1355	.	38	P60411	KR109_HUMAN	T	38	ENSP00000381009:A38T	ENSP00000381009:A38T	A	+	1	0	KRTAP10-9	44871628	0.000000	0.05858	0.181000	0.23098	0.005000	0.04900	-0.912000	0.04046	-0.422000	0.07405	-0.768000	0.03414	GCC		0.687	KRTAP10-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128040.1		
KRTAP10-11	386678	broad.mit.edu	37	21	46066382	46066382	+	Missense_Mutation	SNP	G	G	A	rs150246805	byFrequency	TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr21:46066382G>A	ENST00000334670.8	+	1	52	c.7G>A	c.(7-9)Gcg>Acg	p.A3T	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60412	KR10B_HUMAN	keratin associated protein 10-11	3						keratin filament (GO:0045095)				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						CAGCATGGCCGCGTCCACCAT	0.647													g|||	9	0.00179712	0.0068	0.0	5008	,	,		14288	0.0		0.0	False		,,,				2504	0.0					uc002zfr.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						c.(7-9)Gcg>Acg		Homo sapiens keratin associated protein 10-11 (KRTAP10-11), mRNA.		A	,THR/ALA	17,4389	22.3+/-47.3	0,17,2186	65.0	70.0	68.0		,7	1.4	0.2	21	dbSNP_134	68	1,8597	1.2+/-3.3	0,1,4298	no	intron,missense	TSPEAR,KRTAP10-11	NM_144991.2,NM_198692.2	,58	0,18,6484	AA,AG,GG		0.0116,0.3858,0.1384	,benign	,3/299	46066382	18,12986	2203	4299	6502	SO:0001583	missense	386678					keratin filament		g.chr21:46066382G>A	AB076359	CCDS42962.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000243489	ENSG00000243489		"""Keratin associated proteins"""	20528	protein-coding gene	gene with protein product			"""keratin associated protein 10-11"""	KRTAP18-11			Standard	NM_198692		Approved	KRTAP18.11, KAP18.11, KAP10.11	uc002zfr.4	P60412	OTTHUMG00000057626	ENST00000334670.8:c.7G>A	21.37:g.46066382G>A	ENSP00000334197:p.Ala3Thr					TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	p.A3T	NM_198692	NP_941965	P60411	KR109_HUMAN			0	52	+			3					A2RRF9	Missense_Mutation	SNP	ENST00000334670.8	37	c.7G>A	CCDS42962.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	g	5.626	0.300251	0.10678	0.003858	1.16E-4	ENSG00000243489	ENST00000334670	T	0.14391	2.51	3.31	1.42	0.22433	.	.	.	.	.	T	0.08714	0.0216	M	0.74647	2.275	0.09310	N	1	B	0.34061	0.436	B	0.17098	0.017	T	0.20605	-1.0270	9	0.46703	T	0.11	.	3.9275	0.09270	0.2376:0.1978:0.5646:0.0	.	3	P60412	KR10B_HUMAN	T	3	ENSP00000334197:A3T	ENSP00000334197:A3T	A	+	1	0	KRTAP10-11	44890810	0.000000	0.05858	0.249000	0.24280	0.068000	0.16541	-1.989000	0.01480	0.123000	0.18342	-0.355000	0.07637	GCG		0.647	KRTAP10-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128029.1	NM_198692	
TMPRSS6	164656	broad.mit.edu	37	22	37491997	37491997	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr22:37491997C>T	ENST00000346753.3	-	5	681	c.565G>A	c.(565-567)Gtc>Atc	p.V189I	TMPRSS6_ENST00000381792.2_Missense_Mutation_p.V180I|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.V180I|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.V180I|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.V189I	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	189	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CTGTAGGGGACGGCAGCCGAG	0.642																																						uc003aqt.1																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(538-540)Gtc>Atc		Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.							61.0	57.0	58.0					22																	37491997		2203	4300	6503	SO:0001583	missense	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37491997C>T	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.565G>A	22.37:g.37491997C>T	ENSP00000334962:p.Val189Ile					TMPRSS6_uc003aqs.1_Missense_Mutation_p.V189I|TMPRSS6_uc003aqu.3_Missense_Mutation_p.V180I	p.V180I	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN			4	600	-			189					B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	c.538G>A	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	c	6.564	0.472334	0.12461	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856;ENST00000442782	D;D;D;D;T	0.92348	-3.02;-3.01;-3.01;-3.02;-1.08	4.85	-0.297	0.12820	.	0.891799	0.09756	N	0.759866	T	0.77136	0.4086	N	0.08118	0	0.09310	N	1	P;B;B	0.34864	0.473;0.001;0.103	B;B;B	0.22386	0.039;0.001;0.006	T	0.68036	-0.5515	10	0.30078	T	0.28	.	5.4838	0.16739	0.0:0.2811:0.4561:0.2628	.	189;180;189	Q8IU80-2;Q8IU80-5;Q8IU80	.;.;TMPS6_HUMAN	I	180;189;180;180;189	ENSP00000371211:V180I;ENSP00000334962:V189I;ENSP00000385453:V180I;ENSP00000384964:V180I;ENSP00000397691:V189I	ENSP00000334962:V189I	V	-	1	0	TMPRSS6	35821943	0.001000	0.12720	0.001000	0.08648	0.017000	0.09413	0.455000	0.21843	0.463000	0.27118	-0.642000	0.03964	GTC		0.642	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609	
PTPRG	5793	broad.mit.edu	37	3	62188854	62188854	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr3:62188854C>T	ENST00000474889.1	+	12	1762	c.1385C>T	c.(1384-1386)gCg>gTg	p.A462V	PTPRG_ENST00000295874.10_Missense_Mutation_p.A462V	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	462					brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CAGCCCACAGCGTCTCCTGCC	0.547																																						uc003dlb.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(1384-1386)gCg>gTg		Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.							67.0	74.0	71.0					3																	62188854		2203	4300	6503	SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62188854C>T	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.1385C>T	3.37:g.62188854C>T	ENSP00000418112:p.Ala462Val					PTPRG_uc003dlc.3_Missense_Mutation_p.A462V	p.A462V	NM_002841	NP_002832	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	11	2104	+			462					B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.1385C>T	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465375	0.43839	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.47528	0.88;0.84	4.3	4.3	0.51218	.	0.205995	0.44902	D	0.000412	T	0.30572	0.0769	L	0.29908	0.895	0.35955	D	0.834206	B;B	0.15719	0.011;0.014	B;B	0.10450	0.003;0.005	T	0.21314	-1.0249	10	0.07030	T	0.85	.	10.7709	0.46321	0.0:0.9114:0.0:0.0886	.	462;462	P23470-2;P23470	.;PTPRG_HUMAN	V	462	ENSP00000418112:A462V;ENSP00000295874:A462V	ENSP00000295874:A462V	A	+	2	0	PTPRG	62163894	1.000000	0.71417	0.994000	0.49952	0.821000	0.46438	4.161000	0.58170	2.104000	0.64026	0.591000	0.81541	GCG		0.547	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841	
STAG1	10274	broad.mit.edu	37	3	136076625	136076625	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr3:136076625delA	ENST00000383202.2	-	28	3258	c.3002delT	c.(3001-3003)ctgfs	p.L1001fs	STAG1_ENST00000536929.1_Frame_Shift_Del_p.L585fs|STAG1_ENST00000236698.5_Frame_Shift_Del_p.L1001fs|STAG1_ENST00000434713.2_Frame_Shift_Del_p.L741fs	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	1001					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						AAGAAAAGCCAGATTAGGAGG	0.333																																						uc003era.1																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(3001-3003)ctgfs		Homo sapiens stromal antigen 1 (STAG1), mRNA.							104.0	102.0	102.0					3																	136076625		2203	4295	6498	SO:0001589	frameshift_variant	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136076625delA	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.3002delT	3.37:g.136076625delA	ENSP00000372689:p.Leu1001fs					STAG1_uc003erb.1_Frame_Shift_Del_p.L1001fs	p.L1001fs	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN			27	3294	-			1001					O00539|Q6P275	Frame_Shift_Del	DEL	ENST00000383202.2	37	c.3002delT	CCDS3090.1																																																																																				0.333	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862	
BMP3	651	broad.mit.edu	37	4	81952456	81952456	+	Silent	SNP	G	G	A	rs368705872		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr4:81952456G>A	ENST00000282701.2	+	1	338	c.18G>A	c.(16-18)agG>agA	p.R6R		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	6					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						GGGCGAGCAGGCTGCTCTTTC	0.706																																						uc003hmg.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						c.(16-18)agG>agA		Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.		G		0,4390		0,0,2195	13.0	16.0	15.0		18	-3.7	0.0	4		15	2,8558		0,2,4278	no	coding-synonymous	BMP3	NM_001201.2		0,2,6473	AA,AG,GG		0.0234,0.0,0.0154		6/473	81952456	2,12948	2195	4280	6475	SO:0001819	synonymous_variant	651				cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr4:81952456G>A	M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"""Bone morphogenetic proteins"""	1070	protein-coding gene	gene with protein product	"""osteogenin"""	112263	"""bone morphogenetic protein 3 (osteogenic)"""				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.18G>A	4.37:g.81952456G>A							p.R6R	NM_001201	NP_001192	P12645	BMP3_HUMAN			0	338	+			6					Q4VAS5	Silent	SNP	ENST00000282701.2	37	c.18G>A	CCDS3588.1																																																																																				0.706	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1		
MTTP	4547	broad.mit.edu	37	4	100534247	100534247	+	Missense_Mutation	SNP	G	G	A	rs371023325		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr4:100534247G>A	ENST00000265517.5	+	15	2370	c.2167G>A	c.(2167-2169)Gac>Aac	p.D723N	MTTP_ENST00000511045.1_Missense_Mutation_p.D750N|MTTP_ENST00000457717.1_Missense_Mutation_p.D723N|RP11-766F14.1_ENST00000508578.1_RNA			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	723					cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	AGCATCTGGCGACCCTATCAG	0.428																																						uc011cej.2																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57						c.(2248-2250)Gac>Aac		Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	Hesperetin(DB01094)						157.0	139.0	145.0					4																	100534247		2203	4300	6503	SO:0001583	missense	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100534247G>A		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.2167G>A	4.37:g.100534247G>A	ENSP00000265517:p.Asp723Asn					MTTP_uc003hvc.4_Missense_Mutation_p.D723N	p.D750N	NM_000253	NP_000244	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	14	2261	+			723					A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	c.2248G>A	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	G	33	5.264110	0.95399	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	T;T;T	0.64085	-0.08;-0.06;-0.06	5.49	5.49	0.81192	.	0.090639	0.85682	D	0.000000	T	0.77585	0.4152	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.72075	0.976;0.453	T	0.76277	-0.3018	10	0.44086	T	0.13	-14.0027	19.349	0.94376	0.0:0.0:1.0:0.0	.	750;723	E9PBP6;P55157	.;MTP_HUMAN	N	750;723;723	ENSP00000427679:D750N;ENSP00000400821:D723N;ENSP00000265517:D723N	ENSP00000265517:D723N	D	+	1	0	MTTP	100753270	1.000000	0.71417	0.955000	0.39395	0.954000	0.61252	9.307000	0.96226	2.581000	0.87130	0.585000	0.79938	GAC		0.428	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3		
TLL1	7092	broad.mit.edu	37	4	166915601	166915601	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr4:166915601C>T	ENST00000061240.2	+	4	1077	c.430C>T	c.(430-432)Cga>Tga	p.R144*	TLL1_ENST00000513213.1_Nonsense_Mutation_p.R144*|TLL1_ENST00000507499.1_Nonsense_Mutation_p.R144*	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	144					cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TGAGAAAAATCGAGTTCCCAG	0.423																																						uc003irh.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(430-432)Cga>Tga		Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.							76.0	74.0	75.0					4																	166915601		2203	4300	6503	SO:0001587	stop_gained	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166915601C>T	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.430C>T	4.37:g.166915601C>T	ENSP00000061240:p.Arg144*					TLL1_uc021xud.1_Nonsense_Mutation_p.R144*|TLL1_uc011cjn.2_Nonsense_Mutation_p.R144*|TLL1_uc011cjo.2_5'UTR	p.R144*	NM_012464	NP_036596	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	3	1077	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	144					B2RMU2|Q96AN3|Q9NQS4	Nonsense_Mutation	SNP	ENST00000061240.2	37	c.430C>T	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	C	38	6.691577	0.97768	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213;ENST00000506144	.	.	.	5.51	4.67	0.58626	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0951	0.65016	0.4309:0.5691:0.0:0.0	.	.	.	.	X	144;144;144;44	.	ENSP00000061240:R144X	R	+	1	2	TLL1	167135051	0.562000	0.26586	0.994000	0.49952	0.037000	0.13140	1.062000	0.30555	1.314000	0.45095	0.655000	0.94253	CGA		0.423	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1		
PDE8B	8622	broad.mit.edu	37	5	76640735	76640735	+	Silent	SNP	A	A	G			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr5:76640735A>G	ENST00000264917.5	+	7	900	c.855A>G	c.(853-855)acA>acG	p.T285T	PDE8B_ENST00000333194.4_Silent_p.T285T|PDE8B_ENST00000340978.3_Silent_p.T285T|PDE8B_ENST00000342343.4_Silent_p.T265T|PDE8B_ENST00000346042.3_Silent_p.T285T	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	285	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	TAGAAATAACAAGCGATGACC	0.353																																						uc003kfa.3																		GMDS/PDE8B(2)	0				NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40						c.(853-855)acA>acG		Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA.							145.0	139.0	141.0					5																	76640735		2203	4300	6503	SO:0001819	synonymous_variant	8622				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr5:76640735A>G	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.855A>G	5.37:g.76640735A>G						PDE8B_uc003kfd.3_Silent_p.T285T|PDE8B_uc003kfe.3_Silent_p.T285T|PDE8B_uc003kfb.3_Silent_p.T265T|PDE8B_uc003kfc.3_Silent_p.T285T	p.T285T	NM_003719	NP_003710	O95263	PDE8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	6	900	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)	285			PAS.		Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Silent	SNP	ENST00000264917.5	37	c.855A>G	CCDS4037.1																																																																																				0.353	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719	
RASA1	5921	broad.mit.edu	37	5	86659220	86659220	+	Silent	SNP	A	A	G			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr5:86659220A>G	ENST00000274376.6	+	11	2073	c.1509A>G	c.(1507-1509)caA>caG	p.Q503Q	RASA1_ENST00000506290.1_Silent_p.Q337Q|RASA1_ENST00000456692.2_Silent_p.Q326Q|RASA1_ENST00000512763.1_Silent_p.Q336Q	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	503	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		GTGATGCCCAACTTATTTATT	0.323																																						uc003kiw.3																			0				NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48						c.(1507-1509)caA>caG		Homo sapiens RAS p21 protein activator (GTPase activating protein) 1 (RASA1), transcript variant 1, mRNA.							78.0	79.0	79.0					5																	86659220		2203	4300	6503	SO:0001819	synonymous_variant	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86659220A>G		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.1509A>G	5.37:g.86659220A>G						RASA1_uc010jav.3_Non-coding_Transcript|RASA1_uc003kix.3_Silent_p.Q326Q|RASA1_uc011ctv.2_Silent_p.Q336Q|RASA1_uc011ctw.2_Silent_p.Q337Q|RASA1_uc010jaw.3_Silent_p.Q325Q	p.Q503Q	NM_002890	NP_002881	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	10	1708	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	503			PH.		B2R6W3|Q9UDI1	Silent	SNP	ENST00000274376.6	37	c.1509A>G	CCDS34200.1																																																																																				0.323	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890	
GPR98	84059	broad.mit.edu	37	5	89986845	89986845	+	Missense_Mutation	SNP	C	C	T	rs199571511		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr5:89986845C>T	ENST00000405460.2	+	31	7034	c.6938C>T	c.(6937-6939)cCg>cTg	p.P2313L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2313	Calx-beta 16. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GACGACGTTCCGGAGATTGAA	0.468																																						uc003kju.3																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(6937-6939)cCg>cTg		Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.							130.0	124.0	126.0					5																	89986845		1947	4150	6097	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89986845C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.6938C>T	5.37:g.89986845C>T	ENSP00000384582:p.Pro2313Leu					GPR98_uc003kjt.3_Intron|GPR98_uc003kjv.3_5'Flank	p.P2313L	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	30	7034	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2313			Calx-beta 16.		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.6938C>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	32	5.159227	0.94686	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.29655	1.56	5.94	5.94	0.96194	Na-Ca exchanger/integrin-beta4 (1);	0.000000	0.85682	D	0.000000	T	0.48943	0.1528	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.44772	-0.9306	10	0.87932	D	0	.	20.3593	0.98849	0.0:1.0:0.0:0.0	.	2313	Q8WXG9	GPR98_HUMAN	L	2313	ENSP00000384582:P2313L	ENSP00000296619:P2313L	P	+	2	0	GPR98	90022601	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.755000	0.85180	2.807000	0.96579	0.591000	0.81541	CCG		0.468	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
TRPC7	57113	broad.mit.edu	37	5	135583350	135583350	+	Silent	SNP	G	G	A	rs575768183		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr5:135583350G>A	ENST00000513104.1	-	7	1935	c.1653C>T	c.(1651-1653)agC>agT	p.S551S	TRPC7_ENST00000355180.3_Silent_p.S490S|TRPC7_ENST00000426057.2_Silent_p.S435S	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	551					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGCGAGAGAAGCTCAGCACGA	0.502													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20627	0.0		0.0	False		,,,				2504	0.0					uc003lbn.2																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(1651-1653)agC>agT		Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.							117.0	118.0	117.0					5																	135583350		1976	4172	6148	SO:0001819	synonymous_variant	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135583350G>A	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.1653C>T	5.37:g.135583350G>A						TRPC7_uc010jef.2_Silent_p.S487S|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Silent_p.S102S|TRPC7_uc010jeh.2_Silent_p.S490S|TRPC7_uc010jei.2_Silent_p.S435S	p.S551S	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		6	1875	-			551					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Silent	SNP	ENST00000513104.1	37	c.1653C>T	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	G	9.633	1.137001	0.21123	.	.	ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753	.	.	.	5.65	2.96	0.34315	.	.	.	.	.	T	0.58680	0.2139	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52366	-0.8585	4	.	.	.	-26.0154	9.3372	0.38058	0.2699:0.0:0.7301:0.0	.	.	.	.	F	435;490;496	.	.	L	-	1	0	TRPC7	135611249	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	1.855000	0.39378	0.502000	0.28037	-0.126000	0.14955	CTT		0.502	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389	
GABRA1	2554	broad.mit.edu	37	5	161324264	161324264	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr5:161324264G>A	ENST00000428797.2	+	11	1562	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	GABRA1_ENST00000444819.1_Missense_Mutation_p.E403K|GABRA1_ENST00000420560.1_Missense_Mutation_p.E403K|GABRA1_ENST00000437025.2_Missense_Mutation_p.E403K|GABRA1_ENST00000023897.6_Missense_Mutation_p.E403K|GABRA1_ENST00000393943.4_Missense_Mutation_p.E403K	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	403					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.E403K(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	GGTCAAGCCCGAAACAAAACC	0.473																																						uc010jiw.3																			1	Substitution - Missense(1)	p.E403K(2)	NS(1)	NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(1207-1209)Gaa>Aaa		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						139.0	139.0	139.0					5																	161324264		2203	4300	6503	SO:0001583	missense	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161324264G>A		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.1207G>A	5.37:g.161324264G>A	ENSP00000393097:p.Glu403Lys					GABRA1_uc010jix.3_Missense_Mutation_p.E403K|GABRA1_uc010jiy.3_Missense_Mutation_p.E403K|GABRA1_uc003lyx.4_Missense_Mutation_p.E403K|GABRA1_uc010jiz.3_Missense_Mutation_p.E403K|GABRA1_uc010jja.3_Missense_Mutation_p.E403K|GABRA1_uc010jjb.3_Missense_Mutation_p.E403K	p.E403K	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	10	1675	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	403					D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	c.1207G>A	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.769814	0.49680	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	D;D;D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01;-2.01;-2.01	5.32	4.44	0.53790	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.332212	0.35235	N	0.003346	T	0.67515	0.2901	N	0.12527	0.23	0.42659	D	0.993474	B	0.18166	0.026	B	0.14578	0.011	T	0.59794	-0.7387	10	0.06891	T	0.86	.	9.0842	0.36570	0.0736:0.0:0.7784:0.1481	.	403	P14867	GBRA1_HUMAN	K	403	ENSP00000023897:E403K;ENSP00000393097:E403K;ENSP00000377517:E403K;ENSP00000415441:E403K;ENSP00000408041:E403K;ENSP00000414232:E403K	ENSP00000023897:E403K	E	+	1	0	GABRA1	161256842	1.000000	0.71417	0.656000	0.29637	0.984000	0.73092	5.197000	0.65141	1.345000	0.45676	0.563000	0.77884	GAA		0.473	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5	
CUL9	23113	broad.mit.edu	37	6	43181519	43181519	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr6:43181519G>A	ENST00000252050.4	+	29	5641	c.5557G>A	c.(5557-5559)Gca>Aca	p.A1853T	CUL9_ENST00000372647.2_Intron|CUL9_ENST00000354495.3_Missense_Mutation_p.A1743T|RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000502937.1_3'UTR	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1853				Missing (in Ref. 3; CAH18696). {ECO:0000305}.	microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						ACCTCCCCAGGCATACCTGAA	0.577																																						uc003ouk.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(5557-5559)Gca>Aca		Homo sapiens cullin 9 (CUL9), mRNA.							71.0	73.0	72.0					6																	43181519		2203	4300	6503	SO:0001583	missense	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43181519G>A	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.5557G>A	6.37:g.43181519G>A	ENSP00000252050:p.Ala1853Thr					CUL9_uc003oul.3_Intron|CUL9_uc010jyk.3_Missense_Mutation_p.A1005T|CUL9_uc003oun.3_5'Flank	p.A1853T	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN			28	5632	+			1853	Missing (in Ref. 3; CAH18696).				O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.5557G>A	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	G	4.848	0.157663	0.09236	.	.	ENSG00000112659	ENST00000252050;ENST00000354495	T;T	0.70631	-0.5;-0.5	4.92	1.16	0.20824	.	0.712783	0.14672	N	0.305298	T	0.10637	0.0260	N	0.01109	-1.01	0.26962	N	0.965797	B;B	0.10296	0.003;0.0	B;B	0.04013	0.001;0.0	T	0.40346	-0.9568	10	0.02654	T	1	-0.1086	4.7435	0.13026	0.7003:0.0:0.1598:0.1399	.	1743;1853	Q8IWT3-3;Q8IWT3	.;CUL9_HUMAN	T	1853;1743	ENSP00000252050:A1853T;ENSP00000346490:A1743T	ENSP00000252050:A1853T	A	+	1	0	CUL9	43289497	0.937000	0.31787	0.628000	0.29241	0.975000	0.68041	2.093000	0.41710	0.291000	0.22468	-0.302000	0.09304	GCA		0.577	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089	
CLIC5	53405	broad.mit.edu	37	6	45882070	45882070	+	Silent	SNP	G	G	A	rs146052023		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr6:45882070G>A	ENST00000185206.6	-	5	1112	c.960C>T	c.(958-960)gaC>gaT	p.D320D	CLIC5_ENST00000339561.6_Silent_p.D161D|CLIC5_ENST00000486570.1_5'UTR|CLIC5_ENST00000544153.1_Silent_p.D161D	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	320	GST C-terminal.				auditory receptor cell stereocilium organization (GO:0060088)|chloride transport (GO:0006821)|diet induced thermogenesis (GO:0002024)|female pregnancy (GO:0007565)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	actin cytoskeleton (GO:0015629)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|stereocilium (GO:0032420)	voltage-gated chloride channel activity (GO:0005247)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						AAGTGTTGGCGTCAATCTCCT	0.537																																						uc003oxv.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						c.(958-960)gaC>gaT		Homo sapiens chloride intracellular channel 5 (CLIC5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.		A	,	2,4404	4.2+/-10.8	0,2,2201	134.0	132.0	133.0		960,483	-8.7	0.0	6	dbSNP_134	133	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CLIC5	NM_001114086.1,NM_016929.3	,	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	,	320/411,161/252	45882070	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	53405				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity	g.chr6:45882070G>A	AF216941	CCDS4914.1, CCDS47438.1, CCDS59022.1	6p12.3	2014-03-14			ENSG00000112782	ENSG00000112782		"""Ion channels / Chloride channels : Intracellular"""	13517	protein-coding gene	gene with protein product		607293				10793131	Standard	NM_001114086		Approved		uc003oxv.3	Q9NZA1	OTTHUMG00000014775	ENST00000185206.6:c.960C>T	6.37:g.45882070G>A						CLIC5_uc003oxu.3_Silent_p.D161D|CLIC5_uc003oxw.3_Non-coding_Transcript|CLIC5_uc003oxx.3_Silent_p.D161D	p.D320D	NM_001114086	NP_001107558	Q9NZA1	CLIC5_HUMAN			4	1066	-			320			GST C-terminal.		B3KUF1|Q5T4Z0|Q8NBY3|Q96JT5|Q9BWZ0	Silent	SNP	ENST00000185206.6	37	c.960C>T	CCDS47438.1																																																																																				0.537	CLIC5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040761.1		
STX7	8417	broad.mit.edu	37	6	132792715	132792715	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr6:132792715G>A	ENST00000367941.2	-	5	387	c.274C>T	c.(274-276)Cgc>Tgc	p.R92C	STX7_ENST00000367937.4_Missense_Mutation_p.R92C|STX7_ENST00000448348.3_5'UTR	NM_003569.2	NP_003560.2	O15400	STX7_HUMAN	syntaxin 7	92					intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)|synaptic vesicle exocytosis (GO:0016079)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		GCCACTAAGCGATCCTTCTGT	0.453																																						uc003qdg.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19						c.(274-276)Cgc>Tgc		Homo sapiens syntaxin 7 (STX7), mRNA.							157.0	144.0	148.0					6																	132792715		2203	4300	6503	SO:0001583	missense	8417				intracellular protein transport|post-Golgi vesicle-mediated transport	early endosome membrane|integral to membrane	SNAP receptor activity	g.chr6:132792715G>A	U77942	CCDS5153.1	6q23.1	2008-02-05			ENSG00000079950	ENSG00000079950			11442	protein-coding gene	gene with protein product		603217				9358037	Standard	NM_003569		Approved		uc003qdg.2	O15400	OTTHUMG00000015577	ENST00000367941.2:c.274C>T	6.37:g.132792715G>A	ENSP00000356918:p.Arg92Cys					STX7_uc011ecg.1_Intron|STX7_uc011ech.1_Intron	p.R92C	NM_003569	NP_003560	O15400	STX7_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)	4	524	-	Breast(56;0.0615)		92					E1P579|Q5SZW2|Q96ES9	Missense_Mutation	SNP	ENST00000367941.2	37	c.274C>T	CCDS5153.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.910793	0.92178	.	.	ENSG00000079950	ENST00000367941;ENST00000448348;ENST00000367937	T;T;T	0.36699	1.24;1.24;1.24	5.93	5.93	0.95920	t-SNARE (1);Syntaxin, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.63710	0.2534	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68296	-0.5446	10	0.87932	D	0	-5.7239	20.3368	0.98748	0.0:0.0:1.0:0.0	.	92	O15400	STX7_HUMAN	C	92	ENSP00000356918:R92C;ENSP00000412202:R92C;ENSP00000356914:R92C	ENSP00000356914:R92C	R	-	1	0	STX7	132834408	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	7.335000	0.79234	2.805000	0.96524	0.655000	0.94253	CGC		0.453	STX7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042252.2		
PDE1C	5137	broad.mit.edu	37	7	31890345	31890345	+	Missense_Mutation	SNP	G	G	A	rs377062465		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:31890345G>A	ENST00000396191.1	-	8	1216	c.761C>T	c.(760-762)aCg>aTg	p.T254M	PDE1C_ENST00000396193.1_Missense_Mutation_p.T314M|PDE1C_ENST00000396184.3_Missense_Mutation_p.T254M|PDE1C_ENST00000321453.7_Missense_Mutation_p.T254M|PDE1C_ENST00000396182.2_Missense_Mutation_p.T254M	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	254	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	CTCCAGCTCCGTCAGCCAGTT	0.463																																						uc003tcm.2																			0		p.L253Q(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81						c.(760-762)aCg>aTg		Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.		G	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	134.0	121.0	125.0		761,761,941,761,761	5.9	1.0	7		125	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	PDE1C	NM_001191056.1,NM_001191057.1,NM_001191058.1,NM_001191059.1,NM_005020.2	81,81,81,81,81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	254/635,254/710,314/770,254/710,254/635	31890345	1,13005	2203	4300	6503	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31890345G>A	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.761C>T	7.37:g.31890345G>A	ENSP00000379494:p.Thr254Met					PDE1C_uc003tcn.1_Missense_Mutation_p.T254M|PDE1C_uc003tco.2_Missense_Mutation_p.T314M|PDE1C_uc003tcr.3_Missense_Mutation_p.T254M|PDE1C_uc003tcs.3_Missense_Mutation_p.T254M	p.T254M	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		7	1222	-			254			Catalytic (By similarity).		B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	c.761C>T	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.405567	0.83230	2.27E-4	0.0	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31	5.91	5.91	0.95273	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.92815	0.7715	M	0.93328	3.405	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.977;0.99;0.982	D	0.93800	0.7100	10	0.87932	D	0	.	19.9008	0.96985	0.0:0.0:1.0:0.0	.	254;314;254	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	M	314;254;254;254;254	ENSP00000379496:T314M;ENSP00000379494:T254M;ENSP00000318105:T254M;ENSP00000379487:T254M;ENSP00000379485:T254M	ENSP00000318105:T254M	T	-	2	0	PDE1C	31856870	1.000000	0.71417	0.975000	0.42487	0.976000	0.68499	7.863000	0.87023	2.805000	0.96524	0.651000	0.88453	ACG		0.463	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1		
ABCA13	154664	broad.mit.edu	37	7	48556332	48556332	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:48556332T>C	ENST00000435803.1	+	52	13676	c.13652T>C	c.(13651-13653)cTt>cCt	p.L4551P	ABCA13_ENST00000544596.1_Missense_Mutation_p.L281P	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4551					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TATGCAACTCTTCCATGGATG	0.378																																						uc003toq.2																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(13651-13653)cTt>cCt		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.							264.0	257.0	259.0					7																	48556332		1882	4105	5987	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48556332T>C	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.13652T>C	7.37:g.48556332T>C	ENSP00000411096:p.Leu4551Pro					ABCA13_uc010kys.1_Missense_Mutation_p.L1626P|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Missense_Mutation_p.L281P	p.L4551P	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			51	13676	+			4551					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.13652T>C	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	T	17.18	3.323449	0.60634	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.83837	-1.77;-1.77;-1.77	5.35	5.35	0.76521	.	0.171905	0.27134	N	0.020779	D	0.89722	0.6797	M	0.69823	2.125	0.53005	D	0.99996	D;D;D	0.89917	0.984;0.997;1.0	D;D;D	0.77557	0.921;0.959;0.99	D	0.90416	0.4413	10	0.62326	D	0.03	.	13.0808	0.59114	0.0:0.0:0.0:1.0	.	281;2253;4551	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	P	4551;324;281	ENSP00000411096:L4551P;ENSP00000391042:L324P;ENSP00000442634:L281P	ENSP00000391042:L324P	L	+	2	0	ABCA13	48526878	0.543000	0.26434	0.090000	0.20809	0.929000	0.56500	5.153000	0.64888	2.006000	0.58801	0.533000	0.62120	CTT		0.378	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
STEAP2	261729	broad.mit.edu	37	7	89856794	89856794	+	Silent	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:89856794C>T	ENST00000287908.3	+	3	1395	c.1002C>T	c.(1000-1002)ctC>ctT	p.L334L	STEAP2_ENST00000394622.2_Silent_p.L334L|STEAP2_ENST00000394621.2_Silent_p.L334L|STEAP2_ENST00000394629.2_Silent_p.L334L|STEAP2_ENST00000394626.1_Silent_p.L334L|STEAP2_ENST00000394632.1_Silent_p.L334L|STEAP2_ENST00000402625.2_Silent_p.L334L	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	334	Ferric oxidoreductase.				copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					ATTTGTTTCTCAACATGGCTT	0.338																																						uc010len.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						c.(1000-1002)ctC>ctT		Homo sapiens STEAP family member 2, metalloreductase (STEAP2), transcript variant 4, mRNA.							57.0	57.0	57.0					7																	89856794		2202	4294	6496	SO:0001819	synonymous_variant	261729				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity	g.chr7:89856794C>T	AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"""prostate cancer associated protein 1"", ""six transmembrane epithelial antigen of the prostate 2"""	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.1002C>T	7.37:g.89856794C>T						STEAP2_uc003ujy.2_Silent_p.L376L|STEAP2_uc003uka.3_Silent_p.L334L|STEAP2_uc003ujz.3_Silent_p.L334L|STEAP2_uc003ukc.3_Silent_p.L334L|STEAP2_uc003ukb.3_Silent_p.L334L|STEAP2_uc003ukd.3_Silent_p.L334L	p.L334L	NM_001244944	NP_001231873	Q8NFT2	STEA2_HUMAN			3	1508	+	all_hematologic(106;0.112)		334			Ferric oxidoreductase.		A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Silent	SNP	ENST00000287908.3	37	c.1002C>T	CCDS5615.1																																																																																				0.338	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	NM_152999	
ZAN	7455	broad.mit.edu	37	7	100382333	100382333	+	RNA	SNP	C	C	T	rs377384170		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:100382333C>T	ENST00000348028.3	+	0	6875				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGTGTGAGGGCGCCAAAGTCC	0.612																																						uc003uwj.3																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139						c.(6706-6708)ggC>ggT		Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.		C	,	1,4223		0,1,2111	61.0	64.0	63.0		6710,6710	2.4	0.0	7		63	0,8434		0,0,4217	no	coding-synonymous,coding-synonymous	ZAN	NM_003386.1,NM_173059.1	,	0,1,6328	TT,TC,CC		0.0,0.0237,0.0079	,	2237/2813,2237/2722	100382333	1,12657	2112	4217	6329			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100382333C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100382333C>T						ZAN_uc003uwk.3_Silent_p.G2236G|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Silent_p.G287G	p.G2236G	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		36	6873	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		2237			TIL 4.		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	ENST00000348028.3	37	c.6708C>T																																																																																					0.612	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386	
IFRD1	3475	broad.mit.edu	37	7	112097053	112097053	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:112097053delA	ENST00000403825.3	+	4	630	c.369delA	c.(367-369)agafs	p.R123fs	IFRD1_ENST00000535603.1_Frame_Shift_Del_p.R73fs|IFRD1_ENST00000005558.4_Frame_Shift_Del_p.R123fs|IFRD1_ENST00000429071.1_Frame_Shift_Del_p.R123fs	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	123					adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						TGGAAAGGAGAATGACTTTAA	0.368																																						uc003vgh.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						c.(367-369)agafs		Homo sapiens interferon-related developmental regulator 1 (IFRD1), transcript variant 2, mRNA.							92.0	89.0	90.0					7																	112097053		2203	4300	6503	SO:0001589	frameshift_variant	3475				multicellular organismal development|myoblast cell fate determination		binding	g.chr7:112097053delA	Y10313	CCDS34736.1, CCDS56504.1	7q31.1	2005-10-17			ENSG00000006652	ENSG00000006652			5456	protein-coding gene	gene with protein product		603502				9722946	Standard	NM_001550		Approved	PC4, TIS7	uc003vgh.3	O00458	OTTHUMG00000155124	ENST00000403825.3:c.369delA	7.37:g.112097053delA	ENSP00000384477:p.Arg123fs					IFRD1_uc011kmn.2_Frame_Shift_Del_p.R73fs|IFRD1_uc003vgi.3_Frame_Shift_Del_p.R123fs|IFRD1_uc003vgj.3_Frame_Shift_Del_p.R123fs|IFRD1_uc011kmo.2_Non-coding_Transcript|IFRD1_uc011kmp.2_Frame_Shift_Del_p.R73fs	p.R123fs	NM_001007245	NP_001184009	O00458	IFRD1_HUMAN			4	839	+			123					B7Z5G1|O75234|Q5U013|Q9BVE4	Frame_Shift_Del	DEL	ENST00000403825.3	37	c.369delA	CCDS34736.1																																																																																				0.368	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338700.1	NM_001550	
FLNC	2318	broad.mit.edu	37	7	128490536	128490536	+	Splice_Site	SNP	A	A	G			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:128490536A>G	ENST00000325888.8	+	32	5658	c.5397A>G	c.(5395-5397)acA>acG	p.T1799T	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Splice_Site_p.T1766T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1799					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGGAGCTCACAGGTACTGCCC	0.592																																						uc003vnz.4																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.e32+1		Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.							70.0	77.0	75.0					7																	128490536		1948	4145	6093	SO:0001630	splice_region_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128490536A>G	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.5398+1A>G	7.37:g.128490536A>G						FLNC_uc003voa.4_Splice_Site_p.G1767_splice	p.G1800_splice	NM_001458	NP_001449	Q14315	FLNC_HUMAN			32	5607	+			1800					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.5398_splice	CCDS43644.1																																																																																				0.592	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3		Silent
FLNC	2318	broad.mit.edu	37	7	128493857	128493857	+	Silent	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:128493857C>T	ENST00000325888.8	+	39	6711	c.6450C>T	c.(6448-6450)atC>atT	p.I2150I	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.I2117I	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2150					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCGCCACCATCGGCAGCACCT	0.662																																						uc003vnz.4																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(6448-6450)atC>atT		Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.							37.0	48.0	44.0					7																	128493857		2120	4236	6356	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128493857C>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.6450C>T	7.37:g.128493857C>T						FLNC_uc003voa.4_Silent_p.I2117I	p.I2150I	NM_001458	NP_001449	Q14315	FLNC_HUMAN			38	6659	+			2150					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.6450C>T	CCDS43644.1																																																																																				0.662	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3		
C7orf49	78996	broad.mit.edu	37	7	134851619	134851619	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:134851619C>T	ENST00000393114.3	-	4	399	c.218G>A	c.(217-219)cGc>cAc	p.R73H	C7orf49_ENST00000459937.1_Intron|C7orf49_ENST00000424142.1_Missense_Mutation_p.R18H|RP11-134L10.1_ENST00000608819.1_RNA|C7orf49_ENST00000430372.1_Missense_Mutation_p.R72H|C7orf49_ENST00000483029.2_Missense_Mutation_p.R18H			Q9BWK5	MRI_HUMAN	chromosome 7 open reading frame 49	73						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						TTCCTGTTTGCGGCTCTGTGG	0.552																																						uc003vsl.3																			0		p.P72L(1)		endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						c.(217-219)cGc>cAc		Homo sapiens chromosome 7 open reading frame 49 (C7orf49), transcript variant 1, mRNA.							58.0	62.0	61.0					7																	134851619		2203	4300	6503	SO:0001583	missense	78996					cytoplasm		g.chr7:134851619C>T	BC000168	CCDS5838.2, CCDS59082.1, CCDS75663.1	7q33	2011-12-09			ENSG00000122783	ENSG00000122783			22432	protein-coding gene	gene with protein product	"""modulator of retrovirus infection"""					17043244	Standard	NM_001243755		Approved	MGC5242, FLJ27285, FLJ22450, MRI	uc003vsh.3	Q9BWK5	OTTHUMG00000155447	ENST00000393114.3:c.218G>A	7.37:g.134851619C>T	ENSP00000376823:p.Arg73His					C7orf49_uc003vsh.3_Intron|C7orf49_uc003vsj.3_Missense_Mutation_p.R44H|C7orf49_uc022alz.1_3'UTR|C7orf49_uc022ama.1_Missense_Mutation_p.R18H|C7orf49_uc022amb.1_3'UTR|C7orf49_uc003vsm.3_3'UTR|C7orf49_uc003vso.3_Missense_Mutation_p.R18H|C7orf49_uc003vsk.3_3'UTR	p.R73H	NM_024033	NP_001230684	Q9BWK5	MRI_HUMAN			3	531	-			73					Q6NWZ4|Q6ZNR5	Missense_Mutation	SNP	ENST00000393114.3	37	c.218G>A	CCDS5838.2	.	.	.	.	.	.	.	.	.	.	C	9.583	1.124011	0.20959	.	.	ENSG00000122783	ENST00000435834;ENST00000424142;ENST00000393114;ENST00000430372	.	.	.	5.37	-0.62	0.11567	.	0.459807	0.18826	N	0.130106	T	0.48892	0.1525	M	0.65498	2.005	0.58432	D	0.999997	B;B;B	0.29232	0.238;0.059;0.098	B;B;B	0.22601	0.04;0.013;0.023	T	0.41556	-0.9502	9	0.62326	D	0.03	-2.453	8.3717	0.32419	0.0:0.4697:0.0:0.5303	.	72;73;44	C9JKC7;Q9BWK5;Q9BWK5-2	.;MRI_HUMAN;.	H	18;18;73;72	.	ENSP00000376823:R73H	R	-	2	0	C7orf49	134502159	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-1.180000	0.03088	-0.197000	0.10350	0.563000	0.77884	CGC		0.552	C7orf49-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340145.1	NM_024033	
ATP6V0A4	50617	broad.mit.edu	37	7	138453573	138453573	+	Silent	SNP	G	G	A	rs137955459		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:138453573G>A	ENST00000310018.2	-	5	525	c.243C>T	c.(241-243)ctC>ctT	p.L81L	ATP6V0A4_ENST00000353492.4_Silent_p.L81L|ATP6V0A4_ENST00000393054.1_Silent_p.L81L|ATP6V0A4_ENST00000483139.1_5'UTR	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	81					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GGCTTTTCTCGAGCAACTGAA	0.483																																						uc003vuf.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(241-243)ctC>ctT		Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.							82.0	79.0	80.0					7																	138453573		2203	4300	6503	SO:0001819	synonymous_variant	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138453573G>A	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.243C>T	7.37:g.138453573G>A						ATP6V0A4_uc003vug.3_Silent_p.L81L|ATP6V0A4_uc003vuh.3_Silent_p.L81L	p.L81L	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN			3	481	-			81					A4D1R4|A8KA80|Q32M47	Silent	SNP	ENST00000310018.2	37	c.243C>T	CCDS5849.1																																																																																				0.483	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632	
KEL	3792	broad.mit.edu	37	7	142658446	142658446	+	Splice_Site	SNP	C	C	T	rs369569464		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:142658446C>T	ENST00000355265.2	-	3	698		c.e3+1		KEL_ENST00000479768.2_Splice_Site	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase						vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					ATCTTGCTTACGAGGGCCACA	0.602																																						uc003wcb.3																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	GRCh37	CS012497|CS012498	KEL	S		c.e3+1		Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.		C		0,4406		0,0,2203	58.0	57.0	57.0			4.4	0.9	7		57	1,8599	1.2+/-3.3	0,1,4299	no	splice-5	KEL	NM_000420.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077			142658446	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142658446C>T	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.223+1G>A	7.37:g.142658446C>T							p.R75_splice	NM_000420	NP_000411	P23276	KELL_HUMAN			3	433	-	Melanoma(164;0.059)		75					B2RBV4|Q96RS8|Q99885	Splice_Site	SNP	ENST00000355265.2	37	c.223_splice	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	C	9.086	1.000416	0.19121	0.0	1.16E-4	ENSG00000197993	ENST00000355265;ENST00000476829;ENST00000467543;ENST00000460479	.	.	.	4.45	4.45	0.53987	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4997	0.55948	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KEL	142368568	0.890000	0.30428	0.875000	0.34327	0.027000	0.11550	3.682000	0.54656	2.319000	0.78375	0.655000	0.94253	.		0.602	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420	Intron
FAM83H	286077	broad.mit.edu	37	8	144810766	144810766	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr8:144810766C>T	ENST00000388913.3	-	5	990	c.865G>A	c.(865-867)Gcg>Acg	p.A289T		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	289					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCCAGGGCCGCGGCCGAGGGC	0.711																																						uc003yzk.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21						c.(865-867)Gcg>Acg		Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.							11.0	14.0	13.0					8																	144810766		1967	4118	6085	SO:0001583	missense	286077				biomineral tissue development			g.chr8:144810766C>T	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.865G>A	8.37:g.144810766C>T	ENSP00000373565:p.Ala289Thr						p.A289T	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		4	934	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		289					A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	c.865G>A	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	c	6.506	0.461530	0.12342	.	.	ENSG00000180921	ENST00000388913	T	0.14266	2.52	4.75	3.87	0.44632	.	0.513654	0.16372	N	0.217274	T	0.06962	0.0177	N	0.14661	0.345	0.09310	N	0.999999	B	0.06786	0.001	B	0.01281	0.0	T	0.39840	-0.9594	10	0.14656	T	0.56	.	6.8643	0.24084	0.0:0.7123:0.0:0.2877	.	289	Q6ZRV2	FA83H_HUMAN	T	289	ENSP00000373565:A289T	ENSP00000373565:A289T	A	-	1	0	FAM83H	144882754	0.000000	0.05858	0.907000	0.35723	0.218000	0.24690	0.991000	0.29654	1.110000	0.41699	-0.254000	0.11334	GCG		0.711	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488	
EPPK1	83481	broad.mit.edu	37	8	144940597	144940597	+	Silent	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr8:144940597G>A	ENST00000525985.1	-	2	6896	c.6825C>T	c.(6823-6825)ccC>ccT	p.P2275P				P58107	EPIPL_HUMAN	epiplakin 1	2275						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGTTGCGCACGGGGTCGATGA	0.721																																						uc003zaa.1																			0		p.D2274D(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6823-6825)ccC>ccT		Homo sapiens epiplakin 1 (EPPK1), mRNA.							50.0	47.0	48.0					8																	144940597		2163	4239	6402	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940597G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6825C>T	8.37:g.144940597G>A							p.P2275P	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		0	6838	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2275					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.6825C>T																																																																																					0.721	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308	
