#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SCMH1	22955	broad.mit.edu	37	1	41503177	41503177	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr1:41503177G>A	ENST00000326197.7	-	12	1804	c.1505C>T	c.(1504-1506)tCc>tTc	p.S502F	SCMH1_ENST00000337495.5_Missense_Mutation_p.S512F|SCMH1_ENST00000397174.2_Missense_Mutation_p.S482F|SCMH1_ENST00000472037.1_5'Flank|SCMH1_ENST00000402904.2_Missense_Mutation_p.S502F|SCMH1_ENST00000372597.1_Missense_Mutation_p.S455F|SCMH1_ENST00000372596.1_Missense_Mutation_p.S441F|SCMH1_ENST00000456518.2_Missense_Mutation_p.S344F|SCMH1_ENST00000361191.5_Missense_Mutation_p.S441F|SCMH1_ENST00000397171.2_Missense_Mutation_p.S441F|SCMH1_ENST00000361705.3_Missense_Mutation_p.S455F|SCMH1_ENST00000372595.1_Missense_Mutation_p.S441F					sex comb on midleg homolog 1 (Drosophila)											breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				TGGTTCCAAGGAGCGGGCCAG	0.532																																						ENST00000402904.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15						c.(1504-1506)tCc>tTc		sex comb on midleg homolog 1 (Drosophila)							199.0	184.0	189.0					1																	41503177		2203	4300	6503	SO:0001583	missense	22955				anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:41503177G>A	AF149045	CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1	1p34	2013-01-10			ENSG00000010803	ENSG00000010803		"""Sterile alpha motif (SAM) domain containing"""	19003	protein-coding gene	gene with protein product						10524249	Standard	NM_012236		Approved	Scml3	uc001cgs.3	Q96GD3	OTTHUMG00000005720	ENST00000326197.7:c.1505C>T	1.37:g.41503177G>A	ENSP00000318094:p.Ser502Phe					SCMH1_ENST00000456518.2_Missense_Mutation_p.S344F|SCMH1_ENST00000397171.2_Missense_Mutation_p.S441F|SCMH1_ENST00000397174.2_Missense_Mutation_p.S482F|SCMH1_ENST00000372596.1_Missense_Mutation_p.S441F|SCMH1_ENST00000372597.1_Missense_Mutation_p.S455F|SCMH1_ENST00000361705.3_Missense_Mutation_p.S455F|SCMH1_ENST00000361191.5_Missense_Mutation_p.S441F|SCMH1_ENST00000372595.1_Missense_Mutation_p.S441F|SCMH1_ENST00000337495.5_Missense_Mutation_p.S512F|SCMH1_ENST00000326197.7_Missense_Mutation_p.S502F	p.S502F	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN			13	1873	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)	502						Missense_Mutation	SNP	ENST00000326197.7	37	c.1505C>T	CCDS30688.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.433792	0.62955	.	.	ENSG00000010803	ENST00000361705;ENST00000456518;ENST00000402904;ENST00000397174;ENST00000397171;ENST00000361191;ENST00000372597;ENST00000372596;ENST00000337495;ENST00000372595;ENST00000326197	T;T;T;T;T;T;T;T;T;T;T	0.25579	2.15;1.79;2.22;2.12;2.13;2.13;2.15;2.13;2.12;2.22;2.22	4.31	4.31	0.51392	.	0.000000	0.64402	D	0.000004	T	0.25606	0.0623	L	0.27053	0.805	0.42916	D	0.994278	P;P;P;P	0.48016	0.894;0.828;0.904;0.836	B;B;P;B	0.47981	0.367;0.299;0.563;0.326	T	0.02713	-1.1120	10	0.59425	D	0.04	.	14.5889	0.68347	0.0:0.0:1.0:0.0	.	344;512;455;502	B4DRQ8;Q96GD3-2;Q96GD3-4;Q96GD3	.;.;.;SCMH1_HUMAN	F	455;344;502;482;441;441;455;441;512;441;502	ENSP00000354996:S455F;ENSP00000403974:S344F;ENSP00000386079:S502F;ENSP00000380359:S482F;ENSP00000380356:S441F;ENSP00000354656:S441F;ENSP00000361678:S455F;ENSP00000361677:S441F;ENSP00000337352:S512F;ENSP00000361676:S441F;ENSP00000318094:S502F	ENSP00000318094:S502F	S	-	2	0	SCMH1	41275764	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	5.655000	0.67981	2.674000	0.91012	0.655000	0.94253	TCC		0.532	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015656.1			24	80	0	0	0	1	0	24	80				
RIPK3	11035	broad.mit.edu	37	14	24806111	24806111	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr14:24806111G>A	ENST00000216274.5	-	9	1534	c.1316C>T	c.(1315-1317)cCg>cTg	p.P439L	RIPK3_ENST00000554338.1_5'Flank|ADCY4_ENST00000396747.3_5'Flank|RP11-934B9.3_ENST00000555591.1_Missense_Mutation_p.P113L|ADCY4_ENST00000310677.4_5'Flank|ADCY4_ENST00000554068.2_5'Flank|ADCY4_ENST00000418030.2_5'Flank|ADCY4_ENST00000558563.1_5'Flank	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	439	Pro-rich.				activation of protein kinase activity (GO:0032147)|amyloid fibril formation (GO:1990000)|apoptotic signaling pathway (GO:0097190)|cellular protein modification process (GO:0006464)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of ligase activity (GO:0051351)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein deacetylation (GO:0090312)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of activated T cell proliferation (GO:0046006)|regulation of activation-induced cell death of T cells (GO:0070235)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000452)|regulation of interferon-gamma production (GO:0032649)|regulation of T cell mediated cytotoxicity (GO:0001914)|signal transduction (GO:0007165)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|NF-kappaB-inducing kinase activity (GO:0004704)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		ATTTGGCTCCGGGGTCCTGCA	0.537																																					Pancreas(58;918 1191 4668 13304 15331)	ENST00000216274.5																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1315-1317)cCg>cTg		receptor-interacting serine-threonine kinase 3							119.0	114.0	116.0					14																	24806111		2203	4300	6503	SO:0001583	missense	11035				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity	g.chr14:24806111G>A	AF156884	CCDS9628.1	14q12	2006-05-15			ENSG00000129465	ENSG00000129465			10021	protein-coding gene	gene with protein product		605817				10339433, 10358032	Standard	NM_006871		Approved	RIP3	uc001wpb.3	Q9Y572	OTTHUMG00000029349	ENST00000216274.5:c.1316C>T	14.37:g.24806111G>A	ENSP00000216274:p.Pro439Leu					RP11-934B9.3_ENST00000555591.1_Missense_Mutation_p.P113L	p.P439L	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)	9	1534	-			439					B4DJL9|C4AM87|Q5J795|Q5J796|Q6P5Y1	Missense_Mutation	SNP	ENST00000216274.5	37	c.1316C>T	CCDS9628.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.48|10.48	1.361593|1.361593	0.24684|0.24684	.|.	.|.	ENSG00000258973;ENSG00000129465|ENSG00000129465	ENST00000555591;ENST00000216274|ENST00000554569	T|.	0.51325|.	0.71|.	4.17|4.17	2.32|2.32	0.28847|0.28847	.|.	1.012730|.	0.07923|.	N|.	0.976287|.	T|T	0.27454|0.27454	0.0674|0.0674	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	B;B|.	0.24132|.	0.098;0.06|.	B;B|.	0.18871|.	0.023;0.019|.	T|T	0.19712|0.19712	-1.0297|-1.0297	10|5	0.72032|.	D|.	0.01|.	0.1652|0.1652	5.9923|5.9923	0.19474|0.19474	0.1039:0.1916:0.7044:0.0|0.1039:0.1916:0.7044:0.0	.|.	113;439|.	G3V2L1;Q9Y572|.	.;RIPK3_HUMAN|.	L|W	113;439|120	ENSP00000216274:P439L|.	ENSP00000216274:P439L|.	P|R	-|-	2|1	0|2	RIPK3;RP11-934B9.3|RIPK3	23875951|23875951	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.594000|0.594000	0.24014|0.24014	0.692000|0.692000	0.31613|0.31613	-0.885000|-0.885000	0.02943|0.02943	CCG|CGG		0.537	RIPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073203.4	NM_006871		29	73	0	0	0	1	0	29	73				
PTPRH	5794	broad.mit.edu	37	19	55693512	55693512	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr19:55693512C>T	ENST00000376350.3	-	19	3092	c.3070G>A	c.(3070-3072)Gtg>Atg	p.V1024M	SYT5_ENST00000537500.1_5'Flank|SYT5_ENST00000354308.3_5'Flank|PTPRH_ENST00000263434.5_Missense_Mutation_p.V846M|SYT5_ENST00000590851.1_5'Flank	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1024	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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)		GTGCGACCCACGCCAGCACTA	0.587																																						ENST00000376350.3																			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.(3070-3072)Gtg>Atg		protein tyrosine phosphatase, receptor type, H							72.0	73.0	73.0					19																	55693512		2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55693512C>T		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.3070G>A	19.37:g.55693512C>T	ENSP00000365528:p.Val1024Met					PTPRH_ENST00000263434.5_Missense_Mutation_p.V846M	p.V1024M	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	19	3092	-		Renal(1328;0.245)	1024			Tyrosine-protein phosphatase.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.3070G>A	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593873	0.86953	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	D;D	0.85339	-1.97;-1.97	4.86	4.86	0.63082	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.33938	N	0.004405	D	0.94558	0.8247	H	0.94620	3.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96016	0.9005	10	0.87932	D	0	.	17.184	0.86862	0.0:1.0:0.0:0.0	.	846;1024	C9JCH2;Q9HD43	.;PTPRH_HUMAN	M	1024;846	ENSP00000365528:V1024M;ENSP00000263434:V846M	ENSP00000263434:V846M	V	-	1	0	PTPRH	60385324	1.000000	0.71417	0.996000	0.52242	0.741000	0.42261	4.522000	0.60539	2.431000	0.82371	0.650000	0.86243	GTG		0.587	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			17	64	0	0	0	1	0	17	64				
RHOBTB3	22836	broad.mit.edu	37	5	95067675	95067675	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr5:95067675G>T	ENST00000379982.3	+	2	623	c.115G>T	c.(115-117)Gag>Tag	p.E39*	RHOBTB3_ENST00000506817.1_Nonsense_Mutation_p.E39*|CTD-2154I11.2_ENST00000512486.1_RNA|RHOBTB3_ENST00000515852.1_3'UTR|CTD-2154I11.2_ENST00000513235.1_RNA	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	39	Rho-like.				ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		CTCCGGGGACGAGAGCAGCTT	0.642																																						ENST00000379982.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16						c.(115-117)Gag>Tag		Rho-related BTB domain containing 3							57.0	52.0	54.0					5																	95067675		2203	4300	6503	SO:0001587	stop_gained	22836				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding	g.chr5:95067675G>T	AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"""BTB/POZ domain containing"""	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.115G>T	5.37:g.95067675G>T	ENSP00000369318:p.Glu39*					RHOBTB3_ENST00000515852.1_3'UTR|CTD-2154I11.2_ENST00000513235.1_RNA|CTD-2154I11.2_ENST00000512486.1_RNA|RHOBTB3_ENST00000506817.1_Nonsense_Mutation_p.E39*	p.E39*	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN		all cancers(79;8.79e-16)	2	623	+		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)	39			Rho-like.		A0PJA4|A8K1W9|Q8IW06	Nonsense_Mutation	SNP	ENST00000379982.3	37	c.115G>T	CCDS4077.1	.	.	.	.	.	.	.	.	.	.	G	36	5.774001	0.96922	.	.	ENSG00000164292	ENST00000506959;ENST00000506817;ENST00000379982	.	.	.	4.86	4.86	0.63082	.	0.275955	0.34268	N	0.004115	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-10.0894	15.2593	0.73610	0.0:0.0:1.0:0.0	.	.	.	.	X	45;39;39	.	ENSP00000369318:E39X	E	+	1	0	RHOBTB3	95093431	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.255000	0.65462	2.396000	0.81511	0.557000	0.71058	GAG		0.642	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241658.1	NM_014899		3	36	1	0	0.00909568	1	0.00909568	3	36				
MIR519A2	574500	broad.mit.edu	37	19	54265626	54265626	+	lincRNA	SNP	C	C	T	rs142071806	byFrequency	TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr19:54265626C>T	ENST00000384990.1	+	0	29				MIR516A2_ENST00000384888.1_RNA|RNU6-1041P_ENST00000516254.1_RNA	NR_030222.1				microRNA 519a-2																		TACAGGGAAGCGCTTTCTGTT	0.408													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		19735	0.0		0.0	False		,,,				2504	0.0					ENST00000384990.1																			0															C		1,3135		0,1,1567	181.0	160.0	166.0			0.5	0.0	19	dbSNP_134	166	0,7164		0,0,3582	no	intergenic				0,1,5149	TT,TC,CC		0.0,0.0319,0.0097			54265626	1,10299	1568	3582	5150			0							g.chr19:54265626C>T			19q13.42	2011-09-12		2008-12-18	ENSG00000207723			"""ncRNAs / Micro RNAs"""	32132	non-coding RNA	RNA, micro				MIRN519A-2, MIRN519A2			Standard	NR_030222		Approved	hsa-mir-519a-2	uc021vaz.1				19.37:g.54265626C>T								NR_030222.1						0	29	+									RNA	SNP	ENST00000384990.1	37																																																																																						0.408	MIR519A2-201	KNOWN	basic	miRNA	lincRNA		NR_030222		27	115	0	0	0	1	0	27	115				
MAP1A	4130	broad.mit.edu	37	15	43817506	43817506	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr15:43817506A>G	ENST00000300231.5	+	4	4285	c.3835A>G	c.(3835-3837)Atc>Gtc	p.I1279V	MAP1A_ENST00000399453.1_Missense_Mutation_p.I1279V|MAP1A_ENST00000382031.1_Missense_Mutation_p.I1517V			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1279					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	ACAGACAGACATCACAGATGA	0.542																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(4549-4551)Atc>Gtc		microtubule-associated protein 1A	Estramustine(DB01196)						94.0	103.0	100.0					15																	43817506		2139	4260	6399	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43817506A>G	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.3835A>G	15.37:g.43817506A>G	ENSP00000300231:p.Ile1279Val					MAP1A_ENST00000399453.1_Missense_Mutation_p.I1279V|MAP1A_ENST00000300231.5_Missense_Mutation_p.I1279V	p.I1517V			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	4580	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	1279					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.4549A>G	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	A	9.213	1.031437	0.19590	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01335	5.0;5.01;5.01	4.89	-8.13	0.01073	.	.	.	.	.	T	0.01254	0.0041	M	0.62723	1.935	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49263	-0.8958	9	0.17369	T	0.5	0.0	1.1362	0.01755	0.141:0.2854:0.2147:0.3589	.	1279	P78559	MAP1A_HUMAN	V	1517;1279;1279	ENSP00000371462:I1517V;ENSP00000382380:I1279V;ENSP00000300231:I1279V	ENSP00000300231:I1279V	I	+	1	0	MAP1A	41604798	0.000000	0.05858	0.006000	0.13384	0.170000	0.22686	-0.999000	0.03697	-0.997000	0.03450	-0.490000	0.04691	ATC		0.542	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		4	39	0	0	0	1	0	4	39				
PKNOX1	5316	broad.mit.edu	37	21	44433259	44433259	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr21:44433259C>T	ENST00000291547.5	+	5	644	c.433C>T	c.(433-435)Cga>Tga	p.R145*	PKNOX1_ENST00000432907.2_Nonsense_Mutation_p.R28*	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	145					angiogenesis (GO:0001525)|camera-type eye development (GO:0043010)|erythrocyte differentiation (GO:0030218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						TTTCTGCAGTCGATACATTGC	0.428																																						ENST00000291547.5																			0				cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						c.(433-435)Cga>Tga		PBX/knotted 1 homeobox 1							126.0	123.0	124.0					21																	44433259		2203	4300	6503	SO:0001587	stop_gained	5316						sequence-specific DNA binding	g.chr21:44433259C>T		CCDS13692.1, CCDS68211.1	21q22.3	2011-06-20			ENSG00000160199	ENSG00000160199		"""Homeoboxes / TALE class"""	9022	protein-coding gene	gene with protein product		602100				9479508	Standard	NM_001286258		Approved	PREP1	uc002zcq.1	P55347	OTTHUMG00000086833	ENST00000291547.5:c.433C>T	21.37:g.44433259C>T	ENSP00000291547:p.Arg145*					PKNOX1_ENST00000432907.2_Nonsense_Mutation_p.R28*	p.R145*	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN			5	644	+			145					O00528|Q8IWT7	Nonsense_Mutation	SNP	ENST00000291547.5	37	c.433C>T	CCDS13692.1	.	.	.	.	.	.	.	.	.	.	C	39	7.436778	0.98282	.	.	ENSG00000160199	ENST00000291547;ENST00000432907	.	.	.	5.68	4.8	0.61643	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.9296	14.8384	0.70201	0.0:0.9308:0.0:0.0692	.	.	.	.	X	145;28	.	ENSP00000291547:R145X	R	+	1	2	PKNOX1	43306328	1.000000	0.71417	0.506000	0.27664	0.940000	0.58332	7.415000	0.80131	1.406000	0.46857	0.561000	0.74099	CGA		0.428	PKNOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195520.3			18	87	0	0	0	1	0	18	87				
EPX	8288	broad.mit.edu	37	17	56274319	56274319	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr17:56274319G>A	ENST00000225371.5	+	7	931	c.821G>A	c.(820-822)cGc>cAc	p.R274H		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	274					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	AATGACCCCCGCATCAAGAAC	0.567																																						ENST00000225371.5																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						c.(820-822)cGc>cAc		eosinophil peroxidase							146.0	130.0	135.0					17																	56274319		2203	4300	6503	SO:0001583	missense	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56274319G>A	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.821G>A	17.37:g.56274319G>A	ENSP00000225371:p.Arg274His						p.R274H	NM_000502.4	NP_000493.1	P11678	PERE_HUMAN			7	931	+			274					Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	c.821G>A	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659759	0.88154	.	.	ENSG00000121053	ENST00000225371	T	0.73258	-0.73	4.86	4.86	0.63082	.	0.051148	0.85682	D	0.000000	D	0.84009	0.5378	M	0.76938	2.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86319	0.1691	10	0.87932	D	0	-17.6383	15.8515	0.78934	0.0:0.0:1.0:0.0	.	274	P11678	PERE_HUMAN	H	274	ENSP00000225371:R274H	ENSP00000225371:R274H	R	+	2	0	EPX	53629318	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	7.750000	0.85110	2.408000	0.81797	0.462000	0.41574	CGC		0.567	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		4	82	0	0	0	1	0	4	82				
LILRB3	11025	broad.mit.edu	37	19	54721088	54721088	+	Silent	SNP	G	G	T			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr19:54721088G>T	ENST00000391750.1	-	14	1906	c.1770C>A	c.(1768-1770)tcC>tcA	p.S590S	LILRA6_ENST00000440558.2_Silent_p.S590S|LILRA6_ENST00000419410.2_Silent_p.S591S|LILRB3_ENST00000407860.2_Silent_p.S607S|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000346401.6_Silent_p.S602S|LILRB3_ENST00000245620.9_Silent_p.S591S|LILRA6_ENST00000270464.5_Silent_p.S591S|LILRB3_ENST00000469273.1_5'UTR|LILRB3_ENST00000424807.1_Silent_p.S590S			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	590					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCACATCCTGGGAGGCTTCAG	0.637																																						ENST00000391750.1																			0				endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34						c.(1768-1770)tcC>tcA		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3							80.0	85.0	83.0					19																	54721088		2203	4300	6503	SO:0001819	synonymous_variant	11025				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	g.chr19:54721088G>T	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1770C>A	19.37:g.54721088G>T						LILRB3_ENST00000424807.1_Silent_p.S590S|LILRA6_ENST00000419410.2_Silent_p.S591S|LILRB3_ENST00000469273.1_5'UTR|LILRB3_ENST00000245620.9_Silent_p.S591S|LILRA6_ENST00000270464.5_Silent_p.S591S|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000407860.2_Silent_p.S607S|LILRB3_ENST00000346401.6_Silent_p.S602S|LILRA6_ENST00000440558.2_Silent_p.S590S	p.S590S			O75022	LIRB3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	14	1906	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		590					C9J1P3|C9JIP1|O15471|Q86U49	Silent	SNP	ENST00000391750.1	37	c.1770C>A	CCDS33105.1																																																																																				0.637	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		14	45	1	0	1.5842e-08	1	1.71094e-08	14	45				
ZMIZ1	57178	broad.mit.edu	37	10	81065297	81065297	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr10:81065297G>A	ENST00000334512.5	+	21	2934	c.2362G>A	c.(2362-2364)Gct>Act	p.A788T	ZMIZ1_ENST00000446377.2_5'Flank	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	788					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CAGTAAAACCGCTCTGCTGGA	0.617																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(2362-2364)Gct>Act		zinc finger, MIZ-type containing 1							120.0	115.0	117.0					10																	81065297		2203	4300	6503	SO:0001583	missense	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81065297G>A	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2362G>A	10.37:g.81065297G>A	ENSP00000334474:p.Ala788Thr						p.A788T	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		21	2934	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		788					Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	c.2362G>A	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	G	36	5.627624	0.96671	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347	D	0.84146	-1.81	5.6	5.6	0.85130	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, MIZ-type (1);	0.000000	0.41294	D	0.000915	D	0.92848	0.7725	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.92603	0.6093	10	0.52906	T	0.07	-5.9598	19.6028	0.95570	0.0:0.0:1.0:0.0	.	788	Q9ULJ6	ZMIZ1_HUMAN	T	788;718;691	ENSP00000334474:A788T	ENSP00000334474:A788T	A	+	1	0	ZMIZ1	80735303	1.000000	0.71417	0.986000	0.45419	0.995000	0.86356	9.441000	0.97557	2.648000	0.89879	0.591000	0.81541	GCT		0.617	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		18	96	0	0	0	1	0	18	96				
PCDHGA12	26025	broad.mit.edu	37	5	140810551	140810551	+	Silent	SNP	C	C	T			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr5:140810551C>T	ENST00000252085.3	+	1	367	c.225C>T	c.(223-225)ttC>ttT	p.F75F	PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB8P_ENST00000502926.1_RNA|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	75	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGCTTTTCGCCCTGAATC	0.632																																						ENST00000252085.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58						c.(223-225)ttC>ttT									57.0	71.0	66.0					5																	140810551		2202	4300	6502	SO:0001819	synonymous_variant	0							g.chr5:140810551C>T	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.225C>T	5.37:g.140810551C>T						PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.F75F	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	367	+								O15100|Q6UW70|Q9Y5D7	Silent	SNP	ENST00000252085.3	37	c.225C>T	CCDS4260.1																																																																																				0.632	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		20	76	0	0	0	1	0	20	76				
RANBP2	5903	broad.mit.edu	37	2	109365442	109365442	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr2:109365442C>T	ENST00000283195.6	+	9	1256	c.1130C>T	c.(1129-1131)gCc>gTc	p.A377V		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	377					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GAAACTTTTGCCAACAAAAGC	0.348																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(1129-1131)gCc>gTc		RAN binding protein 2							200.0	215.0	210.0					2																	109365442		2203	4300	6503	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109365442C>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1130C>T	2.37:g.109365442C>T	ENSP00000283195:p.Ala377Val						p.A377V	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			9	1256	+			377					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.1130C>T	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.423130	0.62733	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.33216	1.42	5.53	5.53	0.82687	.	.	.	.	.	T	0.54919	0.1888	L	0.60455	1.87	0.37478	D	0.915879	D	0.76494	0.999	D	0.80764	0.994	T	0.59172	-0.7504	9	0.87932	D	0	-10.3724	19.8143	0.96560	0.0:1.0:0.0:0.0	.	377	P49792	RBP2_HUMAN	V	377	ENSP00000283195:A377V	ENSP00000283195:A377V	A	+	2	0	RANBP2	108731874	1.000000	0.71417	1.000000	0.80357	0.425000	0.31504	4.255000	0.58804	2.747000	0.94245	0.650000	0.86243	GCC		0.348	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		5	301	0	0	0	1	0	5	301				
UGGT1	56886	broad.mit.edu	37	2	128917179	128917179	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr2:128917179C>T	ENST00000259253.6	+	23	2494	c.2447C>T	c.(2446-2448)gCa>gTa	p.A816V	UGGT1_ENST00000375990.3_Missense_Mutation_p.A792V	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	816					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GCAATCTGGGCAGCTCTCCAA	0.478																																						ENST00000375990.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(2374-2376)gCa>gTa		UDP-glucose glycoprotein glucosyltransferase 1							98.0	99.0	99.0					2																	128917179		2203	4300	6503	SO:0001583	missense	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128917179C>T	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.2447C>T	2.37:g.128917179C>T	ENSP00000259253:p.Ala816Val					UGGT1_ENST00000259253.6_Missense_Mutation_p.A816V	p.A792V			Q9NYU2	UGGG1_HUMAN			23	2778	+			816					Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	c.2375C>T	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	C	35	5.448915	0.96205	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.29655	1.56;1.56	5.4	5.4	0.78164	.	0.154927	0.64402	D	0.000020	T	0.46268	0.1384	M	0.82323	2.585	0.80722	D	1	B;P	0.45594	0.171;0.862	B;B	0.44278	0.193;0.445	T	0.51148	-0.8742	9	.	.	.	.	19.5373	0.95257	0.0:1.0:0.0:0.0	.	792;816	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	V	792;816	ENSP00000365158:A792V;ENSP00000259253:A816V	.	A	+	2	0	UGGT1	128633649	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.315000	0.78998	2.696000	0.92011	0.557000	0.71058	GCA		0.478	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		16	63	0	0	0	1	0	16	63				
ZNF407	55628	broad.mit.edu	37	18	72344424	72344424	+	Silent	SNP	C	C	T			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr18:72344424C>T	ENST00000299687.5	+	1	1449	c.1449C>T	c.(1447-1449)tgC>tgT	p.C483C	ZNF407_ENST00000309902.6_Silent_p.C483C|ZNF407_ENST00000582337.1_Silent_p.C483C|ZNF407_ENST00000577538.1_Silent_p.C483C	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	483					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TGGAAGCGTGCAGCAGTGTGC	0.527																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(1447-1449)tgC>tgT		zinc finger protein 407							46.0	51.0	49.0					18																	72344424		2110	4229	6339	SO:0001819	synonymous_variant	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72344424C>T	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.1449C>T	18.37:g.72344424C>T						ZNF407_ENST00000577538.1_Silent_p.C483C|ZNF407_ENST00000309902.6_Silent_p.C483C|ZNF407_ENST00000582337.1_Silent_p.C483C	p.C483C	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	1449	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	483					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	ENST00000299687.5	37	c.1449C>T	CCDS45885.1																																																																																				0.527	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		6	33	0	0	0	1	0	6	33				
SYNE1	23345	broad.mit.edu	37	6	152453342	152453342	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr6:152453342G>A	ENST00000367255.5	-	144	26610	c.26009C>T	c.(26008-26010)tCt>tTt	p.S8670F	SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000539504.1_Missense_Mutation_p.S825F|SYNE1_ENST00000423061.1_Missense_Mutation_p.S8622F|SYNE1_ENST00000341594.5_Missense_Mutation_p.S8282F|SYNE1_ENST00000265368.4_Missense_Mutation_p.S8670F|SYNE1_ENST00000356820.4_Missense_Mutation_p.S3194F|SYNE1_ENST00000448038.1_Missense_Mutation_p.S8622F|SYNE1_ENST00000354674.4_Missense_Mutation_p.S848F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8670	Ser-rich.				cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGACCAGGAAGACAAATCCTA	0.512										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(26008-26010)tCt>tTt		spectrin repeat containing, nuclear envelope 1							144.0	130.0	135.0					6																	152453342		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152453342G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.26009C>T	6.37:g.152453342G>A	ENSP00000356224:p.Ser8670Phe	HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Missense_Mutation_p.S8622F|SYNE1_ENST00000356820.4_Missense_Mutation_p.S3194F|SYNE1_ENST00000265368.4_Missense_Mutation_p.S8670F|SYNE1_ENST00000354674.4_Missense_Mutation_p.S848F|SYNE1_ENST00000341594.5_Missense_Mutation_p.S8282F|SYNE1_ENST00000539504.1_Missense_Mutation_p.S825F|SYNE1_ENST00000448038.1_Missense_Mutation_p.S8622F|SYNE1_ENST00000347037.5_5'UTR	p.S8670F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	144	26610	-		Ovarian(120;0.0955)	8670			Ser-rich.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.26009C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	30	5.051727	0.93793	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.58210	0.44;4.52;1.34;0.45;0.35;0.45;0.54;2.41;1.5;4.52	5.75	5.75	0.90469	.	0.000000	0.49916	D	0.000130	T	0.66356	0.2781	M	0.68952	2.095	0.58432	D	0.999999	D;D;D;D;P	0.71674	0.997;0.997;0.998;0.997;0.751	P;P;D;D;B	0.68483	0.851;0.851;0.958;0.909;0.395	T	0.63773	-0.6561	10	0.45353	T	0.12	.	19.9447	0.97177	0.0:0.0:1.0:0.0	.	8670;8670;8622;8622;872	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	F	8670;825;1316;8622;8670;8622;8282;3194;855;850;1615;848	ENSP00000356224:S8670F;ENSP00000441052:S825F;ENSP00000356226:S1316F;ENSP00000396024:S8622F;ENSP00000265368:S8670F;ENSP00000390975:S8622F;ENSP00000341887:S8282F;ENSP00000349276:S3194F;ENSP00000356220:S1615F;ENSP00000346701:S848F	ENSP00000265368:S8670F	S	-	2	0	SYNE1	152495035	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	9.230000	0.95299	2.719000	0.93026	0.655000	0.94253	TCT		0.512	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		24	86	0	0	0	1	0	24	86				
TSC2	7249	broad.mit.edu	37	16	2121840	2121840	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr16:2121840G>T	ENST00000219476.3	+	19	2632	c.2002G>T	c.(2002-2004)Ggg>Tgg	p.G668W	TSC2_ENST00000568454.1_Missense_Mutation_p.G679W|TSC2_ENST00000382538.6_Missense_Mutation_p.G619W|TSC2_ENST00000353929.4_Missense_Mutation_p.G668W|TSC2_ENST00000350773.4_Missense_Mutation_p.G668W|TSC2_ENST00000439673.2_Missense_Mutation_p.G631W|TSC2_ENST00000401874.2_Missense_Mutation_p.G668W	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	668					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TCCTCCCACAGGGCCTCCTGG	0.677			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"""D, Mis, N, F, S"""	tuberous sclerosis 2 gene			"""E, O"""		"""hamartoma, renal cell"""			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.(2002-2004)Ggg>Tgg		tuberous sclerosis 2							7.0	9.0	8.0					16																	2121840		2176	4270	6446	SO:0001583	missense	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2121840G>T	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.2002G>T	16.37:g.2121840G>T	ENSP00000219476:p.Gly668Trp					TSC2_ENST00000382538.6_Missense_Mutation_p.G619W|TSC2_ENST00000401874.2_Missense_Mutation_p.G668W|TSC2_ENST00000568454.1_Missense_Mutation_p.G679W|TSC2_ENST00000439673.2_Missense_Mutation_p.G631W|TSC2_ENST00000350773.4_Missense_Mutation_p.G668W|TSC2_ENST00000353929.4_Missense_Mutation_p.G668W	p.G668W	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			19	2632	+		Hepatocellular(780;0.0202)	668					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.2002G>T	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382913	0.61845	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19;-2.19;-2.19	5.45	5.45	0.79879	Tuberin-type domain (1);	0.000000	0.85682	D	0.000000	D	0.92237	0.7538	L	0.60455	1.87	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;0.998;1.0;0.995;1.0	D	0.92444	0.5964	10	0.59425	D	0.04	-43.8667	17.4582	0.87613	0.0:0.0:1.0:0.0	.	619;631;668;668;668;668	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	W	668;668;668;631;619;668	ENSP00000219476:G668W;ENSP00000384468:G668W;ENSP00000248099:G668W;ENSP00000399232:G631W;ENSP00000371978:G619W;ENSP00000344383:G668W	ENSP00000219476:G668W	G	+	1	0	TSC2	2061841	1.000000	0.71417	0.422000	0.26621	0.010000	0.07245	9.153000	0.94687	2.551000	0.86045	0.462000	0.41574	GGG		0.677	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		4	7	1	0	0.00909568	1	0.00909568	4	7				
SETX	23064	broad.mit.edu	37	9	135153581	135153581	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr9:135153581T>G	ENST00000224140.5	-	21	6900	c.6718A>C	c.(6718-6720)Aat>Cat	p.N2240H	SETX_ENST00000372169.2_Missense_Mutation_p.N2240H|SETX_ENST00000477049.1_5'Flank|SETX_ENST00000393220.1_Missense_Mutation_p.N2240H	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2240					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TGTTCTACATTCTCTTCCAGC	0.453																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(6718-6720)Aat>Cat		senataxin							176.0	156.0	163.0					9																	135153581		2203	4300	6503	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135153581T>G	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.6718A>C	9.37:g.135153581T>G	ENSP00000224140:p.Asn2240His					SETX_ENST00000393220.1_Missense_Mutation_p.N2240H|SETX_ENST00000224140.5_Missense_Mutation_p.N2240H	p.N2240H			Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	21	6900	-		Myeloproliferative disorder(178;0.204)	2240					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.6718A>C	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.310270	0.60414	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.91011	-2.16;-2.77;-2.24;-1.89	5.87	2.19	0.27852	.	0.935070	0.09027	N	0.859291	D	0.88429	0.6434	L	0.39898	1.24	0.09310	N	1	B;P;P	0.49696	0.329;0.927;0.911	B;P;P	0.52109	0.208;0.69;0.562	T	0.77739	-0.2475	10	0.62326	D	0.03	.	2.2649	0.04076	0.1287:0.0912:0.2418:0.5384	.	2240;2240;2240	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	H	2240;482;2240;2240	ENSP00000224140:N2240H;ENSP00000409143:N482H;ENSP00000361242:N2240H;ENSP00000376913:N2240H	ENSP00000224140:N2240H	N	-	1	0	SETX	134143402	0.237000	0.23815	0.312000	0.25196	0.980000	0.70556	1.200000	0.32247	0.427000	0.26145	0.528000	0.53228	AAT		0.453	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		16	77	0	0	0	1	0	16	77				
WFS1	7466	broad.mit.edu	37	4	6302392	6302392	+	Silent	SNP	G	G	A			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr4:6302392G>A	ENST00000226760.1	+	8	1040	c.870G>A	c.(868-870)aaG>aaA	p.K290K	WFS1_ENST00000503569.1_Silent_p.K290K	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	290					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		AGGTGGTCAAGTACCCCCTGC	0.617																																						ENST00000226760.1																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(868-870)aaG>aaA		Wolfram syndrome 1 (wolframin)							137.0	119.0	125.0					4																	6302392		2203	4300	6503	SO:0001819	synonymous_variant	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6302392G>A	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.870G>A	4.37:g.6302392G>A						WFS1_ENST00000503569.1_Silent_p.K290K	p.K290K	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	8	1040	+			290					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Silent	SNP	ENST00000226760.1	37	c.870G>A	CCDS3386.1	.	.	.	.	.	.	.	.	.	.	g	0.071	-1.202685	0.01581	.	.	ENSG00000109501	ENST00000506362	.	.	.	4.45	2.34	0.29019	.	.	.	.	.	T	0.46927	0.1418	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33828	-0.9853	4	.	.	.	-17.8313	4.2006	0.10464	0.5304:0.0:0.4696:0.0	.	.	.	.	N	168	.	.	S	+	2	0	WFS1	6353293	1.000000	0.71417	0.996000	0.52242	0.332000	0.28634	1.480000	0.35464	0.869000	0.35703	0.556000	0.70494	AGT		0.617	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			11	19	0	0	0	1	0	11	19				
PLEKHG4B	153478	broad.mit.edu	37	5	161984	161984	+	Silent	SNP	C	C	T	rs373547646	byFrequency	TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr5:161984C>T	ENST00000283426.6	+	10	1556	c.1506C>T	c.(1504-1506)agC>agT	p.S502S		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	502							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S502S(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GGGGCCTGAGCGCCGTGGTCA	0.612													C|||	2	0.000399361	0.0	0.0	5008	,	,		16549	0.0		0.0	False		,,,				2504	0.002					ENST00000283426.6																			1	Substitution - coding silent(1)	p.S502S(1)	large_intestine(1)	endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11						c.(1504-1506)agC>agT		pleckstrin homology domain containing, family G (with RhoGef domain) member 4B		C		0,4406		0,0,2203	86.0	78.0	81.0		1506	-2.3	0.0	5		81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PLEKHG4B	NM_052909.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		502/1272	161984	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:161984C>T	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.1506C>T	5.37:g.161984C>T							p.S502S	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	10	1556	+			502						Silent	SNP	ENST00000283426.6	37	c.1506C>T	CCDS34124.1																																																																																				0.612	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		9	24	0	0	0	1	0	9	24				
SSX3	10214	broad.mit.edu	37	X	48207020	48207020	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chrX:48207020A>T	ENST00000298396.2	-	7	538	c.486T>A	c.(484-486)caT>caA	p.H162Q	SSX3_ENST00000376895.1_Missense_Mutation_p.H74Q	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	162					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(1)|lung(9)	13						GGGTCCAGGCATGTTCCCCCC	0.478																																					Colon(37;227 826 19399 40970 48007)	ENST00000298396.2																			0				endometrium(3)|large_intestine(1)|lung(9)	13						c.(484-486)caT>caA		synovial sarcoma, X breakpoint 3							259.0	234.0	242.0					X																	48207020		2203	4297	6500	SO:0001583	missense	10214				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48207020A>T	U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.486T>A	X.37:g.48207020A>T	ENSP00000298396:p.His162Gln					SSX3_ENST00000376895.1_Missense_Mutation_p.H74Q	p.H162Q	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN			7	538	-			162					O60223|Q5JQZ3|Q9BRW7	Missense_Mutation	SNP	ENST00000298396.2	37	c.486T>A	CCDS14291.1	.	.	.	.	.	.	.	.	.	.	a	12.40	1.927391	0.34002	.	.	ENSG00000165584	ENST00000298396;ENST00000376895	T;T	0.32023	3.14;1.47	1.86	-0.931	0.10438	SSXRD motif (1);	2.040690	0.02170	N	0.059583	T	0.29190	0.0726	N	0.22421	0.69	0.09310	N	1	P	0.50272	0.933	P	0.53146	0.719	T	0.07908	-1.0748	10	0.46703	T	0.11	.	1.5181	0.02510	0.4783:0.0:0.212:0.3098	.	162	Q99909	SSX3_HUMAN	Q	162;74	ENSP00000298396:H162Q;ENSP00000366092:H74Q	ENSP00000298396:H162Q	H	-	3	2	SSX3	48091964	0.000000	0.05858	0.000000	0.03702	0.125000	0.20455	-0.313000	0.08103	-0.316000	0.08690	0.293000	0.19593	CAT		0.478	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056486.1	NM_021014		66	112	0	0	0	1	0	66	112				
HPS5	11234	broad.mit.edu	37	11	18303529	18303529	+	Missense_Mutation	SNP	G	G	C	rs139039126	byFrequency	TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr11:18303529G>C	ENST00000349215.3	-	22	3574	c.3297C>G	c.(3295-3297)tgC>tgG	p.C1099W	HPS5_ENST00000438420.2_Missense_Mutation_p.C985W|HPS5_ENST00000396253.3_Missense_Mutation_p.C985W|HPS5_ENST00000537258.1_Missense_Mutation_p.C206W|HPS5_ENST00000352460.3_5'UTR	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	1099					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TCAGGATATCGCAGGTTCTGG	0.498									Hermansky-Pudlak syndrome																													ENST00000396253.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(2953-2955)tgC>tgG		Hermansky-Pudlak syndrome 5							130.0	126.0	128.0					11																	18303529		2199	4293	6492	SO:0001583	missense	11234	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18303529G>C	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.3297C>G	11.37:g.18303529G>C	ENSP00000265967:p.Cys1099Trp					HPS5_ENST00000349215.3_Missense_Mutation_p.C1099W|HPS5_ENST00000537258.1_Missense_Mutation_p.C206W|HPS5_ENST00000438420.2_Missense_Mutation_p.C985W|HPS5_ENST00000352460.3_5'UTR	p.C985W	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN			21	3417	-			1099					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	ENST00000349215.3	37	c.2955C>G	CCDS7836.1	.	.	.	.	.	.	.	.	.	.	g	11.72	1.723164	0.30503	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215;ENST00000537258	T;T;T	0.61158	0.13;0.13;0.2	4.82	-9.02	0.00741	.	0.048296	0.85682	D	0.000000	T	0.64692	0.2621	L	0.50333	1.59	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	T	0.78178	-0.2305	10	0.72032	D	0.01	.	18.6972	0.91605	0.7729:0.0:0.2271:0.0	.	1099	Q9UPZ3	HPS5_HUMAN	W	985;985;1099;206	ENSP00000379552:C985W;ENSP00000399590:C985W;ENSP00000265967:C1099W	ENSP00000265967:C1099W	C	-	3	2	HPS5	18260105	0.000000	0.05858	0.163000	0.22734	0.449000	0.32228	-3.536000	0.00438	-1.711000	0.01395	-1.128000	0.01989	TGC		0.498	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		17	71	0	0	0	1	0	17	71				
LRRC8B	23507	broad.mit.edu	37	1	90058514	90058514	+	Missense_Mutation	SNP	G	G	C	rs369449390		TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr1:90058514G>C	ENST00000330947.2	+	6	2684	c.2324G>C	c.(2323-2325)cGg>cCg	p.R775P	LRRC8B_ENST00000358200.4_Missense_Mutation_p.R775P|LRRC8B_ENST00000439853.1_Missense_Mutation_p.R775P|RP5-1007M22.2_ENST00000443562.1_RNA	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	775					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TCCCTAAAACGGAACTGTCTG	0.433																																						ENST00000330947.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26						c.(2323-2325)cGg>cCg		leucine rich repeat containing 8 family, member B							154.0	139.0	144.0					1																	90058514		2203	4300	6503	SO:0001583	missense	23507					integral to membrane		g.chr1:90058514G>C	AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"""T cell activation leucine repeat rich protein"""	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.2324G>C	1.37:g.90058514G>C	ENSP00000332674:p.Arg775Pro					RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Missense_Mutation_p.R775P|LRRC8B_ENST00000439853.1_Missense_Mutation_p.R775P	p.R775P	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN		all cancers(265;0.00515)|Epithelial(280;0.0241)	6	2684	+		all_lung(203;0.17)	775					D3DT28|Q6UY21|Q8N106|Q92627	Missense_Mutation	SNP	ENST00000330947.2	37	c.2324G>C	CCDS724.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.473874	0.63737	.	.	ENSG00000197147	ENST00000330947;ENST00000358200;ENST00000439853	T;T;T	0.01005	5.45;5.45;5.45	6.16	6.16	0.99307	.	0.000000	0.64402	D	0.000012	T	0.00608	0.0020	L	0.45137	1.4	0.50467	D	0.99987	B	0.17465	0.022	B	0.13407	0.009	T	0.65578	-0.6134	9	.	.	.	.	16.2434	0.82429	0.0:0.1318:0.8682:0.0	.	775	Q6P9F7	LRC8B_HUMAN	P	775	ENSP00000332674:R775P;ENSP00000350933:R775P;ENSP00000400704:R775P	.	R	+	2	0	LRRC8B	89831102	1.000000	0.71417	0.985000	0.45067	0.928000	0.56348	3.492000	0.53259	2.937000	0.99478	0.650000	0.86243	CGG		0.433	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1	NM_015350		22	81	0	0	0	1	0	22	81				
TTI1	9675	broad.mit.edu	37	20	36627645	36627645	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr20:36627645G>A	ENST00000373448.2	-	6	2976	c.2738C>T	c.(2737-2739)tCg>tTg	p.S913L	TTI1_ENST00000373447.3_Missense_Mutation_p.S913L|TTI1_ENST00000449821.1_Missense_Mutation_p.S913L	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	913					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						GTGAACGAGCGAGGGCCAGGC	0.562																																						ENST00000373448.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						c.(2737-2739)tCg>tTg		TELO2 interacting protein 1							109.0	95.0	100.0					20																	36627645		2203	4300	6503	SO:0001583	missense	9675						binding	g.chr20:36627645G>A	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.2738C>T	20.37:g.36627645G>A	ENSP00000362547:p.Ser913Leu					TTI1_ENST00000449821.1_Missense_Mutation_p.S913L|TTI1_ENST00000373447.3_Missense_Mutation_p.S913L	p.S913L	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN			6	2976	-			913					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	ENST00000373448.2	37	c.2738C>T	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.762164	0.49468	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.58060	0.36;0.36;0.36	4.59	4.59	0.56863	Armadillo-like helical (1);Armadillo-type fold (1);	0.498441	0.21991	N	0.066142	T	0.44808	0.1311	L	0.60455	1.87	0.32407	N	0.551212	B	0.27229	0.172	B	0.23018	0.043	T	0.49634	-0.8919	10	0.11485	T	0.65	-0.2922	12.4521	0.55682	0.0:0.1687:0.8313:0.0	.	913	O43156	TTI1_HUMAN	L	913	ENSP00000362547:S913L;ENSP00000362546:S913L;ENSP00000407270:S913L	ENSP00000362546:S913L	S	-	2	0	TTI1	36061059	0.985000	0.35326	0.904000	0.35570	0.553000	0.35397	4.910000	0.63321	2.379000	0.81126	0.563000	0.77884	TCG		0.562	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		10	43	0	0	0	1	0	10	43				
SIDT2	51092	broad.mit.edu	37	11	117052521	117052521	+	Splice_Site	SNP	A	A	G			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr11:117052521A>G	ENST00000324225.4	+	3	836		c.e3-1		SIDT2_ENST00000530948.1_Splice_Site|SIDT2_ENST00000431081.2_Splice_Site	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2						cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		TTCGGGCCATAGGTTTCAGCG	0.592											OREG0021368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000324225.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36						c.e3-1		SID1 transmembrane family, member 2							80.0	81.0	81.0					11																	117052521		2201	4296	6497	SO:0001630	splice_region_variant	51092					integral to membrane|lysosomal membrane		g.chr11:117052521A>G	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.306-1A>G	11.37:g.117052521A>G			OREG0021368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1478	SIDT2_ENST00000530948.1_Splice_Site|SIDT2_ENST00000431081.2_Splice_Site		NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)	3	836	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)						Q8NBY7|Q9Y357	Splice_Site	SNP	ENST00000324225.4	37		CCDS31682.1	.	.	.	.	.	.	.	.	.	.	A	19.50	3.840103	0.71488	.	.	ENSG00000149577	ENST00000324225;ENST00000532960;ENST00000525347;ENST00000278951;ENST00000431081;ENST00000531353	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1236	0.72465	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SIDT2	116557731	1.000000	0.71417	0.966000	0.40874	0.853000	0.48598	7.929000	0.87595	2.161000	0.67846	0.459000	0.35465	.		0.592	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996	Intron	3	55	0	0	0	1	0	3	55				
DLG5	9231	broad.mit.edu	37	10	79571813	79571813	+	Silent	SNP	G	G	A			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr10:79571813G>A	ENST00000372391.2	-	22	4196	c.4191C>T	c.(4189-4191)ttC>ttT	p.F1397F	DLG5_ENST00000372388.2_Silent_p.F1057F|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1397	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TTATGCCGTTGAACTGGGGAA	0.647																																						ENST00000372391.2																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(4189-4191)ttC>ttT		discs, large homolog 5 (Drosophila)							66.0	60.0	62.0					10																	79571813		2203	4300	6503	SO:0001819	synonymous_variant	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79571813G>A	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.4191C>T	10.37:g.79571813G>A						DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Silent_p.F1057F	p.F1397F	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		22	4196	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		1397			PDZ 3.		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	ENST00000372391.2	37	c.4191C>T	CCDS7353.2																																																																																				0.647	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			10	43	0	0	0	1	0	10	43				
BAI3	577	broad.mit.edu	37	6	70071345	70071345	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr6:70071345G>A	ENST00000370598.1	+	29	5001	c.4180G>A	c.(4180-4182)Gat>Aat	p.D1394N	BAI3_ENST00000238918.8_Missense_Mutation_p.D600N|BAI3_ENST00000546190.1_Missense_Mutation_p.D358N	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1394					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGAGTTGGATGATAATGCAGG	0.403																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(4180-4182)Gat>Aat		brain-specific angiogenesis inhibitor 3							102.0	107.0	106.0					6																	70071345		2203	4299	6502	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70071345G>A	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.4180G>A	6.37:g.70071345G>A	ENSP00000359630:p.Asp1394Asn					BAI3_ENST00000238918.8_Missense_Mutation_p.D600N|BAI3_ENST00000546190.1_Missense_Mutation_p.D358N	p.D1394N	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			29	5001	+		all_lung(197;0.212)	1394					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.4180G>A	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708064	0.48412	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.05717	3.4;3.4;3.4	5.8	5.8	0.92144	.	0.093649	0.64402	D	0.000001	T	0.02848	0.0085	N	0.22421	0.69	0.52099	D	0.999945	B;B	0.26635	0.155;0.0	B;B	0.26614	0.071;0.0	T	0.52895	-0.8514	10	0.23891	T	0.37	.	20.1141	0.97919	0.0:0.0:1.0:0.0	.	600;1394	B7Z356;O60242	.;BAI3_HUMAN	N	1394;600;358	ENSP00000359630:D1394N;ENSP00000238918:D600N;ENSP00000441821:D358N	ENSP00000238918:D600N	D	+	1	0	BAI3	70128066	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.766000	0.95052	0.650000	0.86243	GAT		0.403	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			27	49	0	0	0	1	0	27	49				
USP31	57478	broad.mit.edu	37	16	23116855	23116855	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr16:23116855G>C	ENST00000219689.7	-	5	995	c.996C>G	c.(994-996)caC>caG	p.H332Q		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TCCTCATGCAGTGAGAACATT	0.433																																						ENST00000219689.7																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57						c.(994-996)caC>caG		ubiquitin specific peptidase 31							117.0	94.0	102.0					16																	23116855		2197	4300	6497	SO:0001583	missense	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23116855G>C	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.996C>G	16.37:g.23116855G>C	ENSP00000219689:p.His332Gln						p.H332Q	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	5	995	-			332					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	c.996C>G	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630092	0.67015	.	.	ENSG00000103404	ENST00000219689	T	0.07688	3.17	4.69	3.72	0.42706	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.122893	0.53938	D	0.000057	T	0.13884	0.0336	L	0.35414	1.06	0.80722	D	1	D	0.60575	0.988	P	0.60012	0.867	T	0.07028	-1.0794	10	0.27785	T	0.31	-13.3742	12.1731	0.54169	0.0842:0.0:0.9158:0.0	.	332	Q70CQ4	UBP31_HUMAN	Q	332	ENSP00000219689:H332Q	ENSP00000219689:H332Q	H	-	3	2	USP31	23024356	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.266000	0.65525	2.157000	0.67596	0.655000	0.94253	CAC		0.433	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		6	60	0	0	0	1	0	6	60				
CA13	377677	broad.mit.edu	37	8	86163132	86163132	+	Silent	SNP	C	C	T			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr8:86163132C>T	ENST00000321764.3	+	2	503	c.201C>T	c.(199-201)ttC>ttT	p.F67F	RP11-219B4.6_ENST00000551479.1_5'Flank|CA13_ENST00000517298.1_3'UTR	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	67					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|myelin sheath (GO:0043209)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.F67F(2)		large_intestine(1)|lung(6)	7					Zonisamide(DB00909)	GCCATTCCTTCAATGTTGACT	0.398																																						ENST00000321764.3																			2	Substitution - coding silent(2)	p.F67F(2)	lung(2)	large_intestine(1)|lung(6)	7						c.(199-201)ttC>ttT		carbonic anhydrase XIII							171.0	171.0	171.0					8																	86163132		2203	4300	6503	SO:0001819	synonymous_variant	377677				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	g.chr8:86163132C>T	BC052602	CCDS6236.1	8q21	2004-05-10				ENSG00000185015		"""Carbonic anhydrases"""	14914	protein-coding gene	gene with protein product		611436				14600151	Standard	NM_198584		Approved	CAXIII, FLJ37995, MGC59868	uc003ydg.2	Q8N1Q1		ENST00000321764.3:c.201C>T	8.37:g.86163132C>T						CA13_ENST00000517298.1_3'UTR	p.F67F	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN			2	503	+			67						Silent	SNP	ENST00000321764.3	37	c.201C>T	CCDS6236.1																																																																																				0.398	CA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381066.1	NM_198584		5	221	0	0	0	1	0	5	221				
COX7C	1350	broad.mit.edu	37	5	85915176	85915176	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr5:85915176C>T	ENST00000509578.1	+	2	182	c.82C>T	c.(82-84)Cca>Tca	p.P28S	COX7C_ENST00000247655.3_Missense_Mutation_p.P28S|MIR3607_ENST00000362392.1_RNA|COX7C_ENST00000513124.1_3'UTR|COX7C_ENST00000515763.1_Missense_Mutation_p.P28S			P15954	COX7C_HUMAN	cytochrome c oxidase subunit VIIc	28					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)			endometrium(1)|lung(1)	2		all_cancers(142;7e-06)|Lung NSC(167;0.000601)|all_lung(232;0.000693)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;1.56e-40)|Epithelial(54;3.17e-34)|all cancers(79;3.36e-29)		ACAGAATTTGCCATTTTCAGT	0.338																																						ENST00000509578.1																			0				endometrium(1)|lung(1)	2						c.(82-84)Cca>Tca		cytochrome c oxidase subunit VIIc							112.0	108.0	109.0					5																	85915176		2203	4300	6503	SO:0001583	missense	1350				respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity	g.chr5:85915176C>T	BC001005	CCDS4063.1	5q14	2011-07-04			ENSG00000127184	ENSG00000127184	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2292	protein-coding gene	gene with protein product		603774				10072584	Standard	NM_001867		Approved		uc003kir.3	P15954	OTTHUMG00000119049	ENST00000509578.1:c.82C>T	5.37:g.85915176C>T	ENSP00000425759:p.Pro28Ser					COX7C_ENST00000247655.3_Missense_Mutation_p.P28S|COX7C_ENST00000515763.1_Missense_Mutation_p.P28S|COX7C_ENST00000513124.1_3'UTR	p.P28S			P15954	COX7C_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.56e-40)|Epithelial(54;3.17e-34)|all cancers(79;3.36e-29)	2	182	+		all_cancers(142;7e-06)|Lung NSC(167;0.000601)|all_lung(232;0.000693)|Ovarian(174;0.0423)	28					Q6NR81	Missense_Mutation	SNP	ENST00000509578.1	37	c.82C>T	CCDS4063.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.830793	0.71258	.	.	ENSG00000127184	ENST00000247655;ENST00000509578;ENST00000515763	.	.	.	5.6	5.6	0.85130	Cytochrome c oxidase, subunit VIIc domain (2);	0.000000	0.85682	D	0.000000	T	0.79305	0.4423	.	.	.	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.80937	-0.1159	8	0.62326	D	0.03	-13.1853	15.1019	0.72284	0.0:1.0:0.0:0.0	.	28	P15954	COX7C_HUMAN	S	28	.	ENSP00000247655:P28S	P	+	1	0	COX7C	85950932	1.000000	0.71417	1.000000	0.80357	0.591000	0.36615	5.376000	0.66178	2.622000	0.88805	0.655000	0.94253	CCA		0.338	COX7C-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369746.1	NM_001867		4	79	0	0	0	1	0	4	79				
CNTNAP5	129684	broad.mit.edu	37	2	125547510	125547510	+	Silent	SNP	A	A	G			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr2:125547510A>G	ENST00000431078.1	+	18	3145	c.2781A>G	c.(2779-2781)ctA>ctG	p.L927L		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	927	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AAGGCTTCCTAGGATGCATTC	0.463																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(2779-2781)ctA>ctG		contactin associated protein-like 5							55.0	54.0	54.0					2																	125547510		1988	4173	6161	SO:0001819	synonymous_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125547510A>G	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2781A>G	2.37:g.125547510A>G							p.L927L	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	18	3145	+			927			Laminin G-like 3.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	c.2781A>G	CCDS46401.1																																																																																				0.463	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			11	34	0	0	0	1	0	11	34				
PSAT1	29968	broad.mit.edu	37	9	80923474	80923474	+	Silent	SNP	T	T	C			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr9:80923474T>C	ENST00000376588.3	+	6	783	c.715T>C	c.(715-717)Ttg>Ctg	p.L239L	PSAT1_ENST00000347159.2_Silent_p.L239L	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	239					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-serine biosynthetic process (GO:0006564)|pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	O-phospho-L-serine:2-oxoglutarate aminotransferase activity (GO:0004648)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						AAACAGCTCCTTGTACAACAC	0.537																																					Colon(34;187 791 10662 18313 37609)	ENST00000376588.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						c.(715-717)Ttg>Ctg		phosphoserine aminotransferase 1	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)						94.0	77.0	83.0					9																	80923474		2203	4300	6503	SO:0001819	synonymous_variant	29968				L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr9:80923474T>C	BC004863	CCDS6659.1, CCDS6660.1	9q21.2	2008-08-11			ENSG00000135069	ENSG00000135069			19129	protein-coding gene	gene with protein product		610936				12633500, 3651428	Standard	NM_058179		Approved	PSA	uc004ala.3	Q9Y617	OTTHUMG00000020066	ENST00000376588.3:c.715T>C	9.37:g.80923474T>C						PSAT1_ENST00000347159.2_Silent_p.L239L	p.L239L	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN			6	783	+			239					Q5T7G5|Q5T7G6|Q96AW2|Q9BQ12	Silent	SNP	ENST00000376588.3	37	c.715T>C	CCDS6660.1																																																																																				0.537	PSAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052777.1	NM_021154		3	59	0	0	0	1	0	3	59				
ZNF471	57573	broad.mit.edu	37	19	57036932	57036932	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr19:57036932G>T	ENST00000308031.5	+	5	1629	c.1496G>T	c.(1495-1497)aGt>aTt	p.S499I	ZNF471_ENST00000591537.1_3'UTR|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	499					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		TTTAGAATCAGTTCACAGCTG	0.378																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	ENST00000308031.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(1495-1497)aGt>aTt		zinc finger protein 471							56.0	59.0	58.0					19																	57036932		2203	4300	6503	SO:0001583	missense	57573				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57036932G>T	AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.1496G>T	19.37:g.57036932G>T	ENSP00000309161:p.Ser499Ile					ZNF471_ENST00000591537.1_3'UTR|ZNF471_ENST00000593197.1_Intron	p.S499I	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN		GBM - Glioblastoma multiforme(193;0.0307)	5	1629	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	499					B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	c.1496G>T	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	G	9.918	1.211425	0.22289	.	.	ENSG00000196263	ENST00000308031	T	0.10288	2.89	3.51	1.24	0.21308	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09730	0.0239	M	0.73372	2.23	0.09310	N	1	P	0.44946	0.846	B	0.29267	0.1	T	0.24764	-1.0151	9	0.35671	T	0.21	.	8.7518	0.34620	0.2046:0.0:0.7954:0.0	.	499	Q9BX82	ZN471_HUMAN	I	499	ENSP00000309161:S499I	ENSP00000309161:S499I	S	+	2	0	ZNF471	61728744	0.000000	0.05858	0.335000	0.25508	0.949000	0.60115	-0.415000	0.07106	0.681000	0.31386	0.462000	0.41574	AGT		0.378	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813		17	45	1	0	4.7546e-09	1	5.23977e-09	17	45				
MORN4	118812	broad.mit.edu	37	10	99376049	99376049	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr10:99376049A>T	ENST00000307450.6	-	5	575	c.412T>A	c.(412-414)Tcc>Acc	p.S138T	MORN4_ENST00000335628.3_Missense_Mutation_p.S196T|PI4K2A_ENST00000370649.3_Intron|MORN4_ENST00000478953.1_3'UTR|PI4K2A_ENST00000555577.1_Intron	NM_001098831.1|NM_178832.3	NP_001092301.1|NP_849154.1	Q8NDC4	MORN4_HUMAN	MORN repeat containing 4	138										large_intestine(1)|lung(1)|stomach(2)	4						GCTGACTTGGAGGCGCTCTGG	0.532																																						ENST00000335628.3																			0				large_intestine(1)|lung(1)|stomach(2)	4						c.(586-588)Tcc>Acc		MORN repeat containing 4							62.0	59.0	60.0					10																	99376049		2203	4300	6503	SO:0001583	missense	118812							g.chr10:99376049A>T	AJ431726	CCDS7468.1	10q24.2	2008-06-23	2008-06-23	2008-06-23	ENSG00000171160	ENSG00000171160			24001	protein-coding gene	gene with protein product	"""44050 protein"""		"""chromosome 10 open reading frame 83"""	C10orf83		12477932	Standard	NM_178832		Approved	bA548K23.4, FLJ25925	uc001koe.3	Q8NDC4	OTTHUMG00000018861	ENST00000307450.6:c.412T>A	10.37:g.99376049A>T	ENSP00000307636:p.Ser138Thr					PI4K2A_ENST00000555577.1_Intron|MORN4_ENST00000478953.1_3'UTR|PI4K2A_ENST00000370649.3_Intron|MORN4_ENST00000307450.6_Missense_Mutation_p.S138T	p.S196T			Q8NDC4	MORN4_HUMAN			4	585	-			138					Q86Y54	Missense_Mutation	SNP	ENST00000307450.6	37	c.586T>A	CCDS7468.1	.	.	.	.	.	.	.	.	.	.	A	19.62	3.862519	0.71949	.	.	ENSG00000171160	ENST00000307450;ENST00000515674;ENST00000335628	T;T	0.59638	0.68;0.25	5.03	5.03	0.67393	.	0.057529	0.64402	D	0.000001	T	0.65270	0.2675	L	0.40543	1.245	0.45946	D	0.998771	D;B	0.69078	0.997;0.39	P;B	0.60789	0.879;0.054	T	0.68577	-0.5372	10	0.66056	D	0.02	-11.5381	14.9245	0.70866	1.0:0.0:0.0:0.0	.	196;138	Q8NDC4-2;Q8NDC4	.;MORN4_HUMAN	T	138;138;196	ENSP00000307636:S138T;ENSP00000335498:S196T	ENSP00000307636:S138T	S	-	1	0	MORN4	99366039	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.875000	0.56108	2.119000	0.64992	0.459000	0.35465	TCC		0.532	MORN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049730.1	NM_178832		3	32	0	0	0	1	0	3	32				
TP53BP1	7158	broad.mit.edu	37	15	43701149	43701149	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr15:43701149C>T	ENST00000263801.3	-	26	5783	c.5531G>A	c.(5530-5532)cGt>cAt	p.R1844H	TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1849H|TP53BP1_ENST00000450115.2_Missense_Mutation_p.R1847H|TP53BP1_ENST00000382039.3_Missense_Mutation_p.R1799H	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1844	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CAGATAATTACGGTAGTTCTG	0.502								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(5530-5532)cGt>cAt	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							136.0	120.0	126.0					15																	43701149		2201	4298	6499	SO:0001583	missense	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43701149C>T	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.5531G>A	15.37:g.43701149C>T	ENSP00000263801:p.Arg1844His					TP53BP1_ENST00000450115.2_Missense_Mutation_p.R1847H|TP53BP1_ENST00000382039.3_Missense_Mutation_p.R1799H|TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1849H	p.R1844H	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	26	5783	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	1844			BRCT 1.		F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.5531G>A	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833978	0.91036	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17	5.34	5.34	0.76211	BRCT (2);	0.000000	0.85682	D	0.000000	D	0.92417	0.7593	M	0.70595	2.14	0.54753	D	0.999986	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.992;0.977;0.996	D	0.92721	0.6191	10	0.72032	D	0.01	-9.1651	13.6975	0.62589	0.0:0.9255:0.0:0.0745	.	1844;1849;1847	Q12888;Q12888-2;F8VY86	TP53B_HUMAN;.;.	H	1844;1849;1799;1847	ENSP00000263801:R1844H;ENSP00000371475:R1849H;ENSP00000371470:R1799H;ENSP00000393497:R1847H	ENSP00000263801:R1844H	R	-	2	0	TP53BP1	41488441	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.567000	0.53813	2.659000	0.90383	0.650000	0.86243	CGT		0.502	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			14	67	0	0	0	1	0	14	67				
IGSF11	152404	broad.mit.edu	37	3	118621499	118621499	+	Silent	SNP	G	G	A			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr3:118621499G>A	ENST00000393775.2	-	7	1469	c.1164C>T	c.(1162-1164)agC>agT	p.S388S	IGSF11_ENST00000489689.1_Silent_p.S364S|IGSF11_ENST00000441144.2_Silent_p.S363S|IGSF11_ENST00000491903.1_Silent_p.S360S|IGSF11_ENST00000425327.2_Silent_p.S387S|IGSF11_ENST00000354673.2_Silent_p.S387S	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	388			S -> N (in dbSNP:rs34908332).		cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTGAGCCATTGCTCCTGGACA	0.527																																						ENST00000354673.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1159-1161)agC>agT		immunoglobulin superfamily, member 11							132.0	100.0	111.0					3																	118621499		2203	4300	6503	SO:0001819	synonymous_variant	152404				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	g.chr3:118621499G>A	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.1164C>T	3.37:g.118621499G>A						IGSF11_ENST00000491903.1_Silent_p.S360S|IGSF11_ENST00000393775.2_Silent_p.S388S|IGSF11_ENST00000425327.2_Silent_p.S387S|IGSF11_ENST00000489689.1_Silent_p.S364S|IGSF11_ENST00000441144.2_Silent_p.S363S	p.S387S	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN			9	1541	-			388					C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Silent	SNP	ENST00000393775.2	37	c.1161C>T	CCDS46891.1																																																																																				0.527	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2			14	40	0	0	0	1	0	14	40				
ZNF420	147923	broad.mit.edu	37	19	37619569	37619569	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr19:37619569A>G	ENST00000337995.3	+	5	1891	c.1676A>G	c.(1675-1677)tAt>tGt	p.Y559C	CTC-454I21.4_ENST00000587645.1_RNA|ZNF420_ENST00000586540.1_3'UTR|ZNF420_ENST00000304239.7_Intron|ZNF585A_ENST00000588723.1_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	559					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGAAACCATATCAATGTAAG	0.418																																						ENST00000337995.3																			0				breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27						c.(1675-1677)tAt>tGt		zinc finger protein 420							85.0	82.0	83.0					19																	37619569		2203	4300	6503	SO:0001583	missense	147923				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37619569A>G	AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"""Zinc fingers, C2H2-type"", ""-"""	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.1676A>G	19.37:g.37619569A>G	ENSP00000338770:p.Tyr559Cys					ZNF420_ENST00000304239.7_Intron|ZNF420_ENST00000586540.1_3'UTR|ZNF585A_ENST00000588723.1_Intron	p.Y559C	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1891	+			559					B2RDY6|Q96ML5	Missense_Mutation	SNP	ENST00000337995.3	37	c.1676A>G	CCDS12498.1	.	.	.	.	.	.	.	.	.	.	A	10.88	1.475659	0.26511	.	.	ENSG00000197050	ENST00000337995	T	0.25414	1.8	4.35	0.945	0.19543	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45478	0.1344	M	0.78344	2.41	0.18873	N	0.999982	D	0.89917	1.0	D	0.91635	0.999	T	0.23619	-1.0183	8	.	.	.	.	4.6931	0.12790	0.4503:0.0:0.086:0.4637	.	559	Q8TAQ5	ZN420_HUMAN	C	559	ENSP00000338770:Y559C	.	Y	+	2	0	ZNF420	42311409	0.000000	0.05858	0.040000	0.18447	0.934000	0.57294	-0.302000	0.08221	-0.096000	0.12329	-0.438000	0.05819	TAT		0.418	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	NM_144689		4	59	0	0	0	1	0	4	59				
CCER1	196477	broad.mit.edu	37	12	91347894	91347894	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr12:91347894C>T	ENST00000358859.2	-	1	1059	c.626G>A	c.(625-627)cGt>cAt	p.R209H	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	209																	CTCCTGCTGACGCTCCACCTT	0.647																																						ENST00000358859.2																			0											c.(625-627)cGt>cAt		coiled-coil glutamate-rich protein 1							81.0	85.0	84.0					12																	91347894		2203	4300	6503	SO:0001583	missense	196477							g.chr12:91347894C>T	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.626G>A	12.37:g.91347894C>T	ENSP00000351727:p.Arg209His					CCER1_ENST00000548187.1_Intron	p.R209H	NM_152638.2	NP_689851.1					1	1059	-								Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	c.626G>A	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.248913	0.39797	.	.	ENSG00000197651	ENST00000358859	T	0.36157	1.27	4.46	3.57	0.40892	.	0.000000	0.35040	N	0.003497	T	0.42494	0.1205	L	0.27053	0.805	0.28195	N	0.927583	D	0.89917	1.0	D	0.87578	0.998	T	0.19095	-1.0316	10	0.72032	D	0.01	-17.1838	8.0531	0.30589	0.0:0.7542:0.0:0.2458	.	209	Q8TC90	CL012_HUMAN	H	209	ENSP00000351727:R209H	ENSP00000351727:R209H	R	-	2	0	C12orf12	89872025	1.000000	0.71417	1.000000	0.80357	0.101000	0.19017	1.232000	0.32636	1.096000	0.41439	-0.355000	0.07637	CGT		0.647	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		12	95	0	0	0	1	0	12	95				
S100A8	6279	broad.mit.edu	37	1	153362588	153362588	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr1:153362588G>T	ENST00000368733.3	-	3	442	c.273C>A	c.(271-273)caC>caA	p.H91Q	S100A8_ENST00000477801.1_5'Flank|S100A8_ENST00000368732.1_Missense_Mutation_p.H91Q	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	S100 calcium binding protein A8	91				VAAHKKSHEESHKE -> WQPTKKAMKKATKSS (in Ref. 1; CAA68390). {ECO:0000305}.	activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|acute inflammatory response (GO:0002526)|autophagy (GO:0006914)|chemokine production (GO:0032602)|chronic inflammatory response (GO:0002544)|cytokine production (GO:0001816)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|neutrophil aggregation (GO:0070488)|neutrophil chemotaxis (GO:0030593)|positive regulation of cell growth (GO:0030307)|positive regulation of inflammatory response (GO:0050729)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of cytoskeleton organization (GO:0051493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to zinc ion (GO:0010043)|sequestering of zinc ion (GO:0032119)|wound healing (GO:0042060)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonic acid binding (GO:0050544)|calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|RAGE receptor binding (GO:0050786)|Toll-like receptor 4 binding (GO:0035662)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTACTCTTTGTGGCTTTCTT	0.468																																						ENST00000368733.3																			0				breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4						c.(271-273)caC>caA		S100 calcium binding protein A8							109.0	111.0	111.0					1																	153362588		2203	4300	6503	SO:0001583	missense	6279				chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding	g.chr1:153362588G>T	BC005928	CCDS1038.1	1q12-q22	2013-01-10	2006-09-11		ENSG00000143546	ENSG00000143546		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10498	protein-coding gene	gene with protein product		123885	"""S100 calcium-binding protein A8 (calgranulin A)"", ""S100 calcium binding protein A8 (calgranulin A)"""	CAGA, CFAG			Standard	NM_002964		Approved	P8, MRP8, 60B8AG, CGLA	uc001fbs.3	P05109	OTTHUMG00000013124	ENST00000368733.3:c.273C>A	1.37:g.153362588G>T	ENSP00000357722:p.His91Gln					S100A8_ENST00000368732.1_Missense_Mutation_p.H91Q	p.H91Q	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	442	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		91	VAAHKKSHEESHKE -> WQPTKKAMKKATKSS (in Ref. 1; CAA68390).				A8K5L3|D3DV37|Q5SY70|Q9UC84|Q9UC92|Q9UCJ0|Q9UCM6	Missense_Mutation	SNP	ENST00000368733.3	37	c.273C>A	CCDS1038.1	.	.	.	.	.	.	.	.	.	.	G	3.559	-0.090004	0.07053	.	.	ENSG00000143546	ENST00000368733;ENST00000368732	T;T	0.05319	3.46;3.46	4.52	4.52	0.55395	EF-hand-like domain (1);	.	.	.	.	T	0.01905	0.0060	.	.	.	0.20307	N	0.999919	P	0.34662	0.462	B	0.36534	0.227	T	0.46679	-0.9174	8	0.16896	T	0.51	.	13.0476	0.58935	0.0:0.0:1.0:0.0	.	91	P05109	S10A8_HUMAN	Q	91	ENSP00000357722:H91Q;ENSP00000357721:H91Q	ENSP00000357721:H91Q	H	-	3	2	S100A8	151629212	0.746000	0.28272	0.420000	0.26596	0.170000	0.22686	3.817000	0.55668	2.798000	0.96311	0.650000	0.86243	CAC		0.468	S100A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036791.1	NM_002964		18	88	1	0	1.96292e-10	1	2.20829e-10	18	88				
DSG4	147409	broad.mit.edu	37	18	28992796	28992796	+	Silent	SNP	G	G	A			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr18:28992796G>A	ENST00000308128.4	+	16	2496	c.2361G>A	c.(2359-2361)gcG>gcA	p.A787A	DSG4_ENST00000359747.4_Silent_p.A806A|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	787					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTTAGAAAGCGTATGCTTATG	0.398																																						ENST00000359747.4																			0				NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70						c.(2416-2418)gcG>gcA		desmoglein 4							62.0	59.0	60.0					18																	28992796		2203	4300	6503	SO:0001819	synonymous_variant	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28992796G>A	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.2361G>A	18.37:g.28992796G>A						RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Silent_p.A787A|RP11-534N16.1_ENST00000581856.1_RNA	p.A806A	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		15	2447	+			787					A2RUI1|Q6Y9L9|Q8IXV4	Silent	SNP	ENST00000308128.4	37	c.2418G>A	CCDS11897.1																																																																																				0.398	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		16	51	0	0	0	1	0	16	51				
LRIT1	26103	broad.mit.edu	37	10	85992631	85992631	+	Silent	SNP	C	C	T			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr10:85992631C>T	ENST00000372105.3	-	4	945	c.924G>A	c.(922-924)acG>acA	p.T308T		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	308	Ig-like C2-type.					integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GAGTCCAGCTCGTGCCGTCAC	0.572																																						ENST00000372105.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						c.(922-924)acG>acA		leucine-rich repeat, immunoglobulin-like and transmembrane domains 1							26.0	25.0	25.0					10																	85992631		2181	4278	6459	SO:0001819	synonymous_variant	26103					integral to endoplasmic reticulum membrane		g.chr10:85992631C>T	AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.924G>A	10.37:g.85992631C>T							p.T308T	NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN			4	945	-			308			Ig-like C2-type.		Q0QD41|Q9Y4N7	Silent	SNP	ENST00000372105.3	37	c.924G>A	CCDS7373.1																																																																																				0.572	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613		8	30	0	0	0	1	0	8	30				
ATN1	1822	broad.mit.edu	37	12	7048124	7048124	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr12:7048124C>G	ENST00000356654.4	+	7	3235	c.2998C>G	c.(2998-3000)Cga>Gga	p.R1000G	ATN1_ENST00000396684.2_Missense_Mutation_p.R1000G	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	1000					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GCCCCTGGAGCGAGAACGTCT	0.682																																						ENST00000356654.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(2998-3000)Cga>Gga		atrophin 1							46.0	55.0	52.0					12																	7048124		2203	4298	6501	SO:0001583	missense	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7048124C>G	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.2998C>G	12.37:g.7048124C>G	ENSP00000349076:p.Arg1000Gly					ATN1_ENST00000396684.2_Missense_Mutation_p.R1000G	p.R1000G	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN			7	3235	+			1000					Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	c.2998C>G	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.360027	0.41801	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.70631	-0.5;-0.5;-0.5	4.82	2.81	0.32909	.	0.000000	0.30620	U	0.009237	T	0.77184	0.4093	L	0.57536	1.79	0.47245	D	0.999362	D	0.57899	0.981	P	0.57283	0.817	T	0.79152	-0.1921	10	0.72032	D	0.01	.	14.0698	0.64852	0.5728:0.4272:0.0:0.0	.	1000	P54259	ATN1_HUMAN	G	1000;1000;1000;585	ENSP00000349076:R1000G;ENSP00000379915:R1000G;ENSP00000441744:R1000G	ENSP00000229279:R585G	R	+	1	2	ATN1	6918385	0.996000	0.38824	0.993000	0.49108	0.132000	0.20833	0.558000	0.23469	0.618000	0.30179	0.650000	0.86243	CGA		0.682	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		22	84	0	0	0	1	0	22	84				
CCDC27	148870	broad.mit.edu	37	1	3679746	3679746	+	Frame_Shift_Del	DEL	G	G	-			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr1:3679746delG	ENST00000294600.2	+	7	1113	c.1029delG	c.(1027-1029)ctgfs	p.L343fs		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	343	Glu-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		ACGAGGGCCTGGAAGGGGAGC	0.672																																						ENST00000294600.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36						c.(1027-1029)ctfs		coiled-coil domain containing 27							43.0	43.0	43.0					1																	3679746		2179	4283	6462	SO:0001589	frameshift_variant	148870							g.chr1:3679746delG		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.1029delG	1.37:g.3679746delG	ENSP00000294600:p.Leu343fs						p.L343fs	NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	7	1113	+	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)	343			Glu-rich.		Q5TBV3|Q96M50	Frame_Shift_Del	DEL	ENST00000294600.2	37	c.1029delG	CCDS50.1																																																																																				0.672	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492		2	4						2	4	---	---	---	---
RANBP2	5903	broad.mit.edu	37	2	109382805	109382805	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr2:109382805delT	ENST00000283195.6	+	20	5936	c.5810delT	c.(5809-5811)attfs	p.I1937fs		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1937					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CGTGGTGTGATTTTTGGCCAA	0.413																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(5809-5811)atfs		RAN binding protein 2							93.0	111.0	105.0					2																	109382805		2195	4282	6477	SO:0001589	frameshift_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109382805delT	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.5810delT	2.37:g.109382805delT	ENSP00000283195:p.Ile1937fs						p.I1937fs	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			20	5936	+			1937					Q13074|Q15280|Q53TE2|Q59FH7	Frame_Shift_Del	DEL	ENST00000283195.6	37	c.5810delT	CCDS2079.1																																																																																				0.413	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		7	539						7	539	---	---	---	---
PROC	5624	broad.mit.edu	37	2	128186333	128186333	+	Frame_Shift_Del	DEL	G	G	-			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr2:128186333delG	ENST00000234071.3	+	9	1284	c.1197delG	c.(1195-1197)gagfs	p.E399fs	PROC_ENST00000422777.3_Frame_Shift_Del_p.E399fs|PROC_ENST00000453608.2_Frame_Shift_Del_p.E454fs|PROC_ENST00000409048.1_Frame_Shift_Del_p.E433fs	NM_000312.3	NP_000303.1	P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	399	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood coagulation (GO:0030195)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	ATGCCTGCGAGGGCGACAGTG	0.652																																						ENST00000453608.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15						c.(1360-1362)gafs		protein C (inactivator of coagulation factors Va and VIIIa)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)						58.0	66.0	63.0					2																	128186333		2203	4300	6503	SO:0001589	frameshift_variant	5624				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity	g.chr2:128186333delG	X02750	CCDS2145.1	2q13-q14	2014-01-30			ENSG00000115718	ENSG00000115718		"""Endogenous ligands"""	9451	protein-coding gene	gene with protein product	"""prepro-protein C"""	612283				2991887, 2437584	Standard	NM_000312		Approved		uc002tok.3	P04070	OTTHUMG00000131528	ENST00000234071.3:c.1197delG	2.37:g.128186333delG	ENSP00000234071:p.Glu399fs					PROC_ENST00000409048.1_Frame_Shift_Del_p.E433fs|PROC_ENST00000234071.3_Frame_Shift_Del_p.E399fs|PROC_ENST00000422777.3_Frame_Shift_Del_p.E399fs	p.E454fs			P04070	PROC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0673)	8	1370	+	Colorectal(110;0.1)		399					B4DPQ7|Q15189|Q15190|Q16001|Q53S74|Q9UC55	Frame_Shift_Del	DEL	ENST00000234071.3	37	c.1362delG	CCDS2145.1																																																																																				0.652	PROC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254385.2	NM_000312		18	99						18	99	---	---	---	---
ANKRD54P1	100419962	broad.mit.edu	37	10	45646972	45646972	+	RNA	DEL	G	G	-			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr10:45646972delG	ENST00000427229.2	+	0	1563																											CTTTGGTACTGGTCATCTGGA	0.552																																						ENST00000427229.2																			0																																																			0							g.chr10:45646972delG																													10.37:g.45646972delG														0	1563	+									RNA	DEL	ENST00000427229.2	37																																																																																						0.552	RP11-445N18.7-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000470688.1			2	4						2	4	---	---	---	---
DPYSL4	10570	broad.mit.edu	37	10	134017305	134017305	+	Frame_Shift_Del	DEL	G	G	-	rs61865802		TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr10:134017305delG	ENST00000338492.4	+	13	1665	c.1501delG	c.(1501-1503)gggfs	p.G501fs	DPYSL4_ENST00000368627.1_Frame_Shift_Del_p.G341fs|DPYSL4_ENST00000368629.1_Frame_Shift_Del_p.G341fs	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	501					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		ACTGTATGACGGGCCCGTCCA	0.711																																						ENST00000338492.4																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1501-1503)ggfs		dihydropyrimidinase-like 4							57.0	57.0	57.0					10																	134017305		2202	4298	6500	SO:0001589	frameshift_variant	10570				axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr10:134017305delG	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.1501delG	10.37:g.134017305delG	ENSP00000339850:p.Gly501fs					DPYSL4_ENST00000368627.1_Frame_Shift_Del_p.G341fs|DPYSL4_ENST00000368629.1_Frame_Shift_Del_p.G341fs	p.G501fs	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)	13	1665	+		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	501					B2RMQ1|D3DRG5|O00240|Q5T0Q7	Frame_Shift_Del	DEL	ENST00000338492.4	37	c.1501delG	CCDS7665.1																																																																																				0.711	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			14	61						14	61	---	---	---	---
C16orf71	146562	broad.mit.edu	37	16	4796953	4796955	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr16:4796953_4796955delGAG	ENST00000299320.5	+	8	1685_1687	c.1207_1209delGAG	c.(1207-1209)gagdel	p.E409del	RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_In_Frame_Del_p.E426del	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	409								p.E403delE(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						CTCTGACAGTGAGGAGGAGGAGG	0.611																																						ENST00000299320.5																			1	Deletion - In frame(1)	p.E403delE(1)	breast(1)	breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						c.(1207-1209)del		chromosome 16 open reading frame 71				1,296,3965		0,0,1,33,230,1867						-6.0	0.9			21	4,602,7644		0,0,4,58,486,3577	no	codingComplex	C16orf71	NM_139170.2		0,0,5,91,716,5444	A1A1,A1A2,A1R,A2A2,A2R,RR		7.3455,6.9686,7.2171				5,898,11609				SO:0001651	inframe_deletion	146562							g.chr16:4796953_4796955delGAG	AF447587	CCDS10521.1	16p13.3	2008-02-05			ENSG00000166246	ENSG00000166246			25081	protein-coding gene	gene with protein product						12477932	Standard	XM_005255144		Approved	FLJ43261, DKFZp686H2240	uc002cxn.3	Q8IYS4	OTTHUMG00000129480	ENST00000299320.5:c.1207_1209delGAG	16.37:g.4796962_4796964delGAG	ENSP00000299320:p.Glu409del					RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_In_Frame_Del_p.E426del	p.E409del	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN			8	1685_1687	+			409					Q8NCV0	In_Frame_Del	DEL	ENST00000299320.5	37	c.1207_1209delGAG	CCDS10521.1																																																																																				0.611	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251644.1	NM_139170		2	4						2	4	---	---	---	---
